Mendel,MD | Dashboard

+ Filter Options

SELECT VARIANTS FROM		EXCLUDE VARIANTS FROM
INDIVIDUALS: SNP LIST:	GROUPS: SAVED GENE LIST: GENE LIST:	INDIVIDUALS: EXCLUDE SNP LIST:	EXCLUDE GROUPS: EXCLUDE SAVED GENE LIST: EXCLUDE GENE LIST:
SELECT INHERITANCE:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:

VARIANT EFFECT	FUNCTIONAL CLASS	IMPACT
MUTATION TYPE:	CHR: POS:

DBSNP BUILD: EXCLUDE VARIANTS AT VARISNP	READ DEPTH: QUAL:	VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES	DBSNP FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN DBSNP	ESP6500 FREQUENCY	EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE	EXCLUDE VARIANTS WITHOUT SIFT SCORE	POLYPHEN2 SCORE	EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD	EXCLUDE VARIANTS WITHOUT CADD SCORE	MCAP	EXCLUDE VARIANTS WITHOUT M-CAP SCORE

OPEN RESULT IN A NEW WINDOW

RESET FILTER | Save Config | Save Analysis

Genes:
ACAP1, ACSM2A, ALKBH2, ALOX15B, ASB11, B4GALT1, CAT, CLIC1, CNOT1, CYP21A2, DUSP3, ENDOV, EPHA2, EYA2, FOLH1, HCN2, HMGCS1, HSD17B8, METAP2, MLYCD, MVD, NCR3, PHYH, PTPN23, RAB1A, SERPINB1, SULT1A2, TARS, TBC1D20, TFRC, TICAM1, TNFSF14, TOM1, VCP, WDR5, WHSC1L1, YARS,

+ Genes associated with diseases 13

Genes at Omim

B4GALT1, CAT, CYP21A2, EPHA2, MLYCD, MVD, NCR3, PHYH, TBC1D20, TFRC, TICAM1, VCP, YARS,

B4GALT1	Congenital disorder of glycosylation, type IId, 607091 (3)
CAT	Acatalasemia, 614097 (3)
CYP21A2	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 (3) Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 (3)
EPHA2	Cataract 6, multiple types, 116600 (3)
MLYCD	Malonyl-CoA decarboxylase deficiency, 248360 (3)
MVD	Porokeratosis 7, multiple types, 614714 (3)
NCR3	{Malaria, mild, susceptibility to}, 609148 (3)
PHYH	Refsum disease, 266500 (3)
TBC1D20	Warburg micro syndrome 4, 615663 (3)
TFRC	Immunodeficiency 46, 616740 (3)
TICAM1	{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 6}, 614850 (3)
VCP	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3) Charcot-Marie-Tooth disease, type 2Y, 616687 (3) Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3)
YARS	Charcot-Marie-Tooth disease, dominant intermediate C, 608323 (3)

Genes at Clinical Genomics Database

B4GALT1, CAT, CYP21A2, EPHA2, MLYCD, MVD, PHYH, TBC1D20, TFRC, TICAM1, VCP, YARS,

B4GALT1	Congenital disorder of glycosylation, type IId
CAT	Acatalasemia
CYP21A2	Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency
EPHA2	Cataract 6, multiple types
MLYCD	Malonyl-CoA decarboxylase deficiency
MVD	Porokeratosis 7
PHYH	Refsum disease
TBC1D20	Warburg micro syndrome 4
TFRC	Immunodeficiency 46
TICAM1	Herpes simplex encephalitis, susceptibility to, 4
VCP	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia Charcot-Marie-Tooth disease type, axonal type, 2Y Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1
YARS	Charcot-Marie-Tooth disease, dominant intermediate C

Genes at HGMD

Summary

Number of Variants: 44
Number of Genes: 37

Export to: CSV

Page 1 of 1

Page 1 of 1

ACAP1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	17	.	7247233	692.77	A	G	PASS	0/1	74	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	ACAP1\|0.086299912\|53.89%
ACSM2A
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	16	.	20480994	1681.77	C	T	PASS	1/1	36	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	ACSM2A\|0.005190474\|85.6%
	View	wes08-paw final	16	.	20480982	2138.77	A	T	PASS	1/1	48	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	ACSM2A\|0.005190474\|85.6%
ALKBH2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	12	.	109526297	334.77	C	T	PASS	0/1	35	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	ALKBH2\|0.007056546\|83.44%
ALOX15B
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	17	.	7945769	978.77	C	G	PASS	1/1	30	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH					0.52	0.00		None None	None None None None	ALOX15B\|0.008183706\|82.49%
ASB11
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	X	.	15315720	195.84	T	A	PASS	1/1	6	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH					0.22	1.00		None None	None None None None	ASB11\|0.151540693\|42.75%
B4GALT1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	9	.	33135240	479.77	G	A	PASS	0/1	33	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH					0.00	1.00		None None	None None None None	B4GALT1\|0.06435347\|58.79%
CAT
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	11	.	34470896	670.77	C	A	PASS	1/1	22	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	CAT\|0.949304275\|2.27%
CLIC1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	6	.	31702005	207.77	G	A	PASS	0/1	16	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	CLIC1\|0.6252556\|10.94%
CNOT1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	16	.	58555208	367.77	G	A	PASS	0/1	19	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH					0.00	1.00		None None	None None None None	CNOT1\|0.849359651\|4.66%
CYP21A2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	6	.	32006551	207.77	G	A	MG_SNP_Filter	0/1	14	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	CYP21A2\|0.039907204\|65.79%
DUSP3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	17	.	41847169	257.77	C	T	PASS	0/1	16	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	DUSP3\|0.128877516\|46.05%
ENDOV
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	17	rs775271641 dbSNP Clinvar	78399340	682.77	G	A	PASS	0/1	37	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH					0.00	1.00		None None	None None None None	ENDOV\|0.017164071\|75.74%
EPHA2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	1	.	16451770	94.77	G	T	PASS	0/1	9	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	EPHA2\|0.768915771\|6.62%
EYA2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	20	rs761096505 dbSNP Clinvar	45725733	183.77	G	A	PASS	0/1	20	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH					0.00	0.96		None None	None None None None	EYA2\|0.640546711\|10.43%
FOLH1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	11	.	49175864	330.77	A	G	PASS	0/1	22	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	FOLH1\|0.065976588\|58.36%
HCN2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	19	rs1054786 dbSNP Clinvar	613898	3996.77	T	C	PASS	1/1	135	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.82169	0.82170	0.30923				None None	None None None None	HCN2\|0.016086187\|76.44%
HMGCS1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	5	.	43298211	289.41	T	G	PASS	0/1	11	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	HMGCS1\|0.437033693\|18.84%
HSD17B8
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	6	.	33173476	268.77	T	G	PASS	0/1	33	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	HSD17B8\|0.095490496\|52.02%
METAP2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	12	.	95906577	144.03	G	C	PASS	1/1	4	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH					0.00	0.99		None None	None None None None	METAP2\|0.903697464\|3.37%
MLYCD
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	16	.	83948855	909.77	A	G	PASS	1/1	26	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	MLYCD\|0.040655509\|65.55%
MVD
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	16	.	88722526	739.77	A	G	PASS	1/1	20	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH					0.49	0.21		None None	None None None None	MVD\|0.030828097\|69.02%
NCR3
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	6	.	31557671	486.77	C	T	PASS	0/1	36	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	NCR3\|0.162756468\|41.19%
PHYH
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	10	rs367762012 dbSNP Clinvar	13336445	1410.77	A	G	PASS	1/1	44	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH				0.00008	0.00	1.00		None None	None None None None	PHYH\|0.021009347\|73.67%
PTPN23
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	3	.	47422632	42.77	A	G	PASS	0/1	7	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	PTPN23\|0.042746364\|64.87%
RAB1A
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	2	.	65331893	475.77	A	G	PASS	1/1	17	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH					0.00	1.00		None None	None None None None	RAB1A\|0.906392493\|3.32%
SERPINB1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	6	.	2834031	664.77	C	T	PASS	1/1	23	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	SERPINB1\|0.214322052\|35.07%
SULT1A2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	16	.	28606747	1032.77	G	A	PASS	0/1	48	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	SULT1A2\|0.020328499\|74.01%
	View	wes08-paw final	16	.	28606744	994.77	A	T	PASS	0/1	47	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	SULT1A2\|0.020328499\|74.01%
	View	wes08-paw final	16	rs775873329 dbSNP Clinvar	28607125	796.77	T	C	PASS	0/1	51	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH					0.11	0.03		None None	None None None None	SULT1A2\|0.020328499\|74.01%
TARS
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	5	.	33458728	149.77	T	C	PASS	0/1	13	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	TARS\|0.510897589\|15.33%
TBC1D20
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	20	.	419860	29.74	AG...	A	PASS	0/1	7	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	TBC1D20\|0.217946046\|34.62%
TFRC
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	3	.	195791241	3517.73	T	TG...	PASS	1/1	69	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	TFRC\|0.701274957\|8.47%
	View	wes08-paw final	3	.	195789759	2457.77	G	T	PASS	1/1	80	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	TFRC\|0.701274957\|8.47%
	View	wes08-paw final	3	.	195779036	754.73	TG...	T	PASS	0/1	103	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	TFRC\|0.701274957\|8.47%
	View	wes08-paw final	3	.	195778940	2096.73	TG...	T	PASS	0/1	156	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	TFRC\|0.701274957\|8.47%
TICAM1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	19	.	4818366	930.77	T	C	PASS	1/1	29	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	TICAM1\|0.001006178\|95.39%
TNFSF14
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	19	.	6665009	3217.77	T	C	PASS	1/1	91	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	TNFSF14\|0.025473309\|71.58%
TOM1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	22	.	35718007	124.77	C	T	PASS	0/1	9	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH					0.00	0.61		None None	None None None None	TOM1\|0.117632845\|47.82%
	View	wes08-paw final	22	.	35718000	154.77	C	T	PASS	0/1	11	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	TOM1\|0.117632845\|47.82%
VCP
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	9	.	35062975	243.77	C	T	PASS	0/1	28	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH					0.00	1.00		None None	None None None None	VCP\|0.893080702\|3.59%
WDR5
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	9	.	137007762	397.77	A	G	PASS	1/1	13	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH					0.00	1.00		None None	None None None None	WDR5\|0.18423131\|38.43%
WHSC1L1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	8	.	38146269	1844.77	T	C	PASS	1/1	54	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH								None None	None None None None	WHSC1L1\|0.701625331\|8.45%
YARS
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	wes08-paw final	1	.	33276294	554.77	G	A	PASS	0/1	30	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH					0.00	1.00		None None	None None None None	YARS\|0.727770087\|7.73%