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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 9

Genes:
ADCY2, ATXN1, CCDC82, CNTROB, DEFB136, DRD4, NSUN2, POLH, YTHDC2,

+ Genes associated with diseases 4

Genes at Omim

ATXN1, DRD4, NSUN2, POLH,

ATXN1	Spinocerebellar ataxia 1, 164400 (3)
DRD4	Autonomic nervous system dysfunction (3) [Novelty seeking personality], 601696 (1) {Attention deficit-hyperactivity disorder}, 143465 (3)
NSUN2	Mental retardation, autosomal recessive 5, 611091 (3)
POLH	Xeroderma pigmentosum, variant type, 278750 (3)

Genes at Clinical Genomics Database

ATXN1, POLH,

ATXN1	Spinocerebellar ataxia 1
POLH	Xeroderma pigmentosum, variant type

Genes at HGMD

Summary

Number of Variants: 9
Number of Genes: 9

Export to: CSV

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ADCY2
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	.	7396593	86.73	TG...	T	PASS	0/1	4	CODON_DELETION	MODERATE								None None	None None None None	ADCY2\|0.904669113\|3.35%
ATXN1
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	.	16327684	222.73	ATGC	A	PASS	0/1	26	CODON_DELETION	MODERATE								None None	None None None None	ATXN1\|0.832563526\|5.05%
CCDC82
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	.	96092210	2221.73	TT...	T	PASS	1/1	52	CODON_DELETION	MODERATE								None None	None None None None	CCDC82\|0.027344726\|70.72%
CNTROB
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	.	7850977	1268.73	TC...	T	PASS	1/1	29	CODON_DELETION	MODERATE								None None	None None None None	CNTROB\|0.086163509\|53.91%
DEFB136
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	.	11831499	370.73	CTCT	C	PASS	0/1	14	CODON_DELETION	MODERATE								None None	None None None None	DEFB136\|0.000613592\|97.85%
DRD4
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	rs572586776 dbSNP Clinvar	637361	250.73	CG...	C	PASS	0/1	9	CODON_DELETION	MODERATE		0.08067	0.08067					None None	None None None None	DRD4\|0.015467826\|76.84%
NSUN2
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	.	6607012	400.73	GAAC	G	PASS	0/1	19	CODON_DELETION	MODERATE								None None	None None None None	NSUN2\|0.037362108\|66.66%
POLH
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	.	43581676	37.73	GGGC	G	PASS	0/1	5	CODON_DELETION	MODERATE								None None	None None None None	POLH\|0.268463918\|29.98%,GTPBP2\|0.262700619\|30.5%
YTHDC2
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	.	112862374	98.25	AAGG	A	PASS	1/1	3	CODON_DELETION	MODERATE								None None	None None None None	YTHDC2\|0.446125013\|18.36%

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+ Filter Options

FREQUENCIES

SCORES

+ Genes 9

+ Genes associated with diseases 4

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

ADCY2

ATXN1

CCDC82

CNTROB

DEFB136

DRD4

NSUN2

POLH

YTHDC2

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