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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:
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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

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+ Genes 2

Genes:
AQP2, CEP290,

+ Genes associated with diseases 2

Genes at Omim

AQP2, CEP290,

AQP2	Diabetes insipidus, nephrogenic, 125800 (3)
CEP290	Joubert syndrome 5, 610188 (3) Leber congenital amaurosis 10, 611755 (3) Meckel syndrome 4, 611134 (3) Senior-Loken syndrome 6, 610189 (3) ?Bardet-Biedl syndrome 14, 615991 (3)

Genes at Clinical Genomics Database

AQP2, CEP290,

AQP2	Diabetes insipidus, nephrogenic, autosomal
CEP290	Leber congenital amaurosis 10 Meckel syndrome 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14

Genes at HGMD

Summary

Number of Variants: 45
Number of Genes: 2

Export to: CSV

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AQP2
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	53586-full_variant_table	12	rs426496 dbSNP Clinvar	50348078	10000.0	T	C	PASS	1/1	861	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH		0.66713	0.66710	0.30671				None None	None None None None	AQP2\|0.155383896\|42.24%
CEP290
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	53586-full_variant_table	12	rs45502896 dbSNP Clinvar	88523494	10000.0	C	G	PASS	0/1	456	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.01538	0.01538	0.01414	0.00	0.97		None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs2468255 dbSNP Clinvar	88505078	10000.0	T	C	PASS	0/1	532	SYNONYMOUS_CODING	LOW	SILENT	0.76458	0.76460	0.22873				None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs45465996 dbSNP Clinvar	88505633	10000.0	A	G	PASS	0/1	438	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	SILENT	0.06889	0.06889	0.13844				None None	None None None None	CEP290\|0.560411435\|13.34%
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	53586-full_variant_table	12	.	88525048	634.0	AT...	AT...	off_target;homopolymer_region	1/1	186	None	None	None							None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs113132803 dbSNP Clinvar	88525014	2669.0	A	T	off_target	0/1	234	None	None	None	0.05471	0.05471	0.04647				None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs79458642,rs371652299,rs71082426 dbSNP Clinvar	88522936	1285.0	C	CTTA	off_target	1/1	63	None	None	None	0.92272	0.92270					None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	.	88522824	148.0	A	C	low_variant_fraction;off_target	0/1	212	None	None	None							None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs71082425 dbSNP Clinvar	88522823	10000.0	A	AC	off_target	1/1	224	None	None	None	0.87360	0.87360	0.12946				None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs2471521 dbSNP Clinvar	88520428	1909.0	C	T	off_target	1/1	66	None	None	None	0.87380	0.87380					None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs2468260 dbSNP Clinvar	88519401	1176.0	A	G	off_target	1/1	41	None	None	None	0.87380	0.87380					None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs190820871 dbSNP Clinvar	88510729	1450.0	A	C	off_target	0/1	142	None	None	None	0.10982	0.10980					None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs78143067 dbSNP Clinvar	88505336	1486.0	T	A	off_target	0/1	139	None	None	None	0.09984	0.09984					None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs115837670 dbSNP Clinvar	88502995	10000.0	A	C	off_target	0/1	296	None	None	None	0.03654	0.03654	0.01376				None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs2471532 dbSNP Clinvar	88496838	10000.0	C	G	off_target	0/1	417	None	None	None	0.76458	0.76460	0.22733				None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs67055170,rs773158172,rs66532357,rs59853208 dbSNP Clinvar	88496418	2585.0	TTG	T	off_target	1/1	104	None	None	None	0.86222	0.86220					None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs112112148 dbSNP Clinvar	88484318	1695.0	G	T	off_target	0/1	136	None	None	None	0.04054	0.04054					None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	.	88483272	10000.0	TA...	TA...	off_target	1/1	404	None	None	None							None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	.	88478316	2283.0	TA...	TA...	off_target	0/1	517	None	None	None							None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs2468246 dbSNP Clinvar	88473825	2523.0	A	G	off_target	0/1	230	None	None	None	0.76438	0.76440					None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs2468245 dbSNP Clinvar	88473049	10000.0	C	T	off_target	0/1	334	None	None	None	0.76458	0.76460	0.22874				None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs17015438 dbSNP Clinvar	88470974	10000.0	T	G	off_target	0/1	492	None	None	None	0.04073	0.04073	0.03745				None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs45477793 dbSNP Clinvar	88470954	10000.0	C	G	off_target	0/1	456	None	None	None	0.06769	0.06769	0.14505				None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	.	88458071	1336.0	CAAA	CAAAA	off_target	1/1	92	None	None	None							None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	.	88454594	1538.0	TA...	TA...	PASS	0/1	413	None	None	None							None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs2471512 dbSNP Clinvar	88453608	10000.0	C	T	off_target	1/1	394	None	None	None	0.92951	0.92950					None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	.	88448066	658.0	AT...	AT...	off_target;homopolymer_region	0/1	277	None	None	None							None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs45477492 dbSNP Clinvar	88447561	10000.0	G	C	off_target	0/1	365	None	None	None	0.03854	0.03854	0.03245				None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	.	88447355	357.0	CA...	CA...	off_target;homopolymer_region	0/1	220	None	None	None							None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs45613639 dbSNP Clinvar	88443213	10000.0	A	G	off_target	0/1	338	None	None	None	0.01617	0.01617	0.01268				None None	None None None None	C12orf29\|0.429935486\|19.14%,CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs457487 dbSNP Clinvar	50349411	10000.0	C	A	off_target	1/1	579	None	None	None	0.43750	0.43750	0.39541				None None	None None None None	AQP2\|0.155383896\|42.24%
	View	53586-full_variant_table	12	rs403201 dbSNP Clinvar	50349143	10000.0	C	G	off_target	1/1	548	None	None	None	0.66653	0.66650	0.26132				None None	None None None None	AQP2\|0.155383896\|42.24%
	View	53586-full_variant_table	12	rs371777 dbSNP Clinvar	50349123	10000.0	C	A	off_target	0/1	469	None	None	None	0.59265	0.59270					None None	None None None None	AQP2\|0.155383896\|42.24%
	View	53586-full_variant_table	12	rs410837 dbSNP Clinvar	50349090	10000.0	A	G	off_target	1/1	348	None	None	None	0.88179	0.88180					None None	None None None None	AQP2\|0.155383896\|42.24%
	View	53586-full_variant_table	12	rs7299924 dbSNP Clinvar	50348961	770.0	A	G	off_target	0/1	83	None	None	None	0.07448	0.07448					None None	None None None None	AQP2\|0.155383896\|42.24%
	View	53586-full_variant_table	12	rs439779 dbSNP Clinvar	50348929	1205.0	T	C	off_target	1/1	42	None	None	None	0.66713	0.66710					None None	None None None None	AQP2\|0.155383896\|42.24%
	View	53586-full_variant_table	12	rs402813 dbSNP Clinvar	50348674	2917.0	C	T	off_target	1/1	102	None	None	None	0.64097	0.64100					None None	None None None None	AQP2\|0.155383896\|42.24%
	View	53586-full_variant_table	12	rs12372344 dbSNP Clinvar	50348359	10000.0	T	C	off_target	0/1	507	None	None	None	0.07448	0.07448	0.15046				None None	None None None None	AQP2\|0.155383896\|42.24%
	View	53586-full_variant_table	12	rs467199 dbSNP Clinvar	50345265	1033.0	A	G	off_target	1/1	36	None	None	None	0.68690	0.68690					None None	None None None None	AQP2\|0.155383896\|42.24%
	View	53586-full_variant_table	12	rs461872 dbSNP Clinvar	50345206	1408.0	G	A	off_target	0/1	117	None	None	None	0.27935	0.27940					None None	None None None None	AQP2\|0.155383896\|42.24%
	View	53586-full_variant_table	12	.	88535298	858.0	CA	CAA	off_target	0/1	86	None	None	None							None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs3782319 dbSNP Clinvar	50345079	10000.0	G	A	off_target	0/1	488	None	None	None	0.08187	0.08187					None None	None None None None	AQP2\|0.155383896\|42.24%
	View	53586-full_variant_table	12	rs45468703 dbSNP Clinvar	88532886	10000.0	T	C	off_target	0/1	309	None	None	None	0.02895	0.02895	0.02742				None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	.	88530706	109.0	CT...	CT...	off_target;homopolymer_region	0/1	238	None	None	None							None None	None None None None	CEP290\|0.560411435\|13.34%
	View	53586-full_variant_table	12	rs115764060 dbSNP Clinvar	88525080	1794.0	G	A	off_target	0/1	140	None	None	None	0.04073	0.04073					None None	None None None None	CEP290\|0.560411435\|13.34%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 2

+ Genes associated with diseases 2

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

AQP2

CEP290

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