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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 3

Genes:
GPR98, PIK3R1, TGFBI,

+ Genes associated with diseases 2

Genes at Omim

PIK3R1, TGFBI,

PIK3R1	Immunodeficiency 36, 616005 (3) SHORT syndrome, 269880 (3) ?Agammaglobulinemia 7, autosomal recessive, 615214 (3)
TGFBI	Corneal dystrophy, Avellino type, 607541 (3) Corneal dystrophy, Groenouw type I, 121900 (3) Corneal dystrophy, Reis-Bucklers type, 608470 (3) Corneal dystrophy, Thiel-Behnke type, 602082 (3) Corneal dystrophy, epithelial basement membrane, 121820 (3) Corneal dystrophy, lattice type I, 122200 (3) Corneal dystrophy, lattice type IIIA, 608471 (3)

Genes at Clinical Genomics Database

PIK3R1, TGFBI,

PIK3R1	Agammaglobulinemia 7, autosomal recessive
TGFBI	Corneal dystrophy, lattice type I Corneal dystrophy, lattice type IIIA Corneal dystrophy of Bowman layer, type I Corneal dystrophy, Avellino type Corneal dystrophy, Reis-Bucklers type Corneal dystrophy, Thiel-Behnke type Corneal dystrophy, Groenouw type I Corneal dystrophy, epithelial basement membrane

Genes at HGMD

Summary

Number of Variants: 51
Number of Genes: 3

Export to: CSV

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GPR98
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	12067_s13	5	rs1878878 dbSNP Clinvar	89990324	100.0	A	G	PASS	0/1	56	NON_SYNONYMOUS_CODING	MODERATE	None	0.80851	0.80850	0.26875	1.00	0.00		None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs16868972 dbSNP Clinvar	89979750	100.0	G	T	PASS	0/1	18	NON_SYNONYMOUS_CODING	MODERATE	None	0.31370	0.31370	0.22990	0.06	1.00		None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs41303352 dbSNP Clinvar	89979691	100.0	A	G	PASS	0/1	18	NON_SYNONYMOUS_CODING	MODERATE	None	0.00060	0.00060	0.18921	0.09	0.01		None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs4916684 dbSNP Clinvar	89979589	100.0	G	A	PASS	0/1	48	NON_SYNONYMOUS_CODING	MODERATE	None	0.80371	0.80370	0.27248	0.89	0.00		None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs2366777 dbSNP Clinvar	89943571	100.0	G	T	PASS	0/1	76	NON_SYNONYMOUS_CODING	MODERATE	None	0.81030	0.81030	0.27251	1.00	0.00		None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs950692 dbSNP Clinvar	89943433	100.0	A	G	PASS	0/1	76	SYNONYMOUS_CODING	LOW	None	0.22145	0.22140	0.14467				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs2366928 dbSNP Clinvar	90024735	100.0	G	A	PASS	0/1	32	NON_SYNONYMOUS_CODING	MODERATE	None	0.82907	0.82910	0.24704	1.00	0.00		None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs3763073 dbSNP Clinvar	90119293	100.0	C	T	PASS	0/1	39	SYNONYMOUS_CODING	LOW	None	0.08646	0.08646	0.00942				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs6880570 dbSNP Clinvar	90001368	100.0	T	G	PASS	0/1	65	SYNONYMOUS_CODING	LOW	None	0.27536	0.27540	0.19157				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs2438374 dbSNP Clinvar	90107108	100.0	A	G	PASS	1/1	79	NON_SYNONYMOUS_CODING	MODERATE	None	0.94609	0.94610	0.06388	1.00	0.00		None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs16869032 dbSNP Clinvar	90016871	100.0	G	A	PASS	0/1	30	NON_SYNONYMOUS_CODING	MODERATE	None	0.22185	0.22180	0.13831	0.00	0.84		None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs77469944 dbSNP Clinvar	90445889	100.0	A	G	PASS	0/1	74	NON_SYNONYMOUS_CODING	MODERATE	None	0.07388	0.07388	0.03879	0.06	0.00		None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs2438378 dbSNP Clinvar	90119324	100.0	G	A	PASS	1/1	39	NON_SYNONYMOUS_CODING	MODERATE	None	0.97224	0.97220	0.02790	0.25	0.00		None None	None None None None	ADGRV1\|0.328571635\|25.58%
PIK3R1
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	12067_s13	5	rs706713 dbSNP Clinvar	67522722	100.0	C	T	PASS	1/1	17	SYNONYMOUS_CODING	LOW	None	0.41933	0.41930	0.29333				None None	None None None None	PIK3R1\|0.917149804\|3.05%
TGFBI
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	12067_s13	5	rs1133170 dbSNP Clinvar	135391374	100.0	C	T	PASS	0/1	51	SYNONYMOUS_CODING	LOW	None	0.28015	0.28020	0.28005				None None	None None None None	TGFBI\|0.999587957\|0.3%
	View	12067_s13	5	rs4669 dbSNP Clinvar	135392426	100.0	T	C	PASS	0/1	77	SYNONYMOUS_CODING	LOW	None	0.42053	0.42050	0.37555				None None	None None None None	TGFBI\|0.999587957\|0.3%
	View	12067_s13	5	rs1054124 dbSNP Clinvar	135388663	100.0	A	G	PASS	0/1	37	SYNONYMOUS_CODING	LOW	None	0.38718	0.38720	0.34547				None None	None None None None	TGFBI\|0.999587957\|0.3%
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	12067_s13	5	rs6452906 dbSNP Clinvar	90016129	82.0	A	G	PASS	0/1	13	None	None	None	0.79812	0.79810					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs6881412 dbSNP Clinvar	90015792	100.0	C	T	PASS	1/1	23	None	None	None	0.80531	0.80530					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs10067181 dbSNP Clinvar	90012614	100.0	A	T	PASS	0/1	48	None	None	None	0.66414	0.66410					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs7732169 dbSNP Clinvar	90007196	100.0	C	T	PASS	0/1	48	None	None	None	0.66314	0.66310					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs60522638 dbSNP Clinvar	90002220	100.0	C	CT	PASS	0/1	61	None	None	None							None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs6880837 dbSNP Clinvar	135396669	100.0	T	C	PASS	1/1	127	None	None	None	0.59105	0.59110	0.42413				None None	None None None None	TGFBI\|0.999587957\|0.3%
	View	12067_s13	5	rs10068473 dbSNP Clinvar	89990545	100.0	C	A	PASS	0/1	31	None	None	None	0.00140	0.64720	0.45261				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs2366776 dbSNP Clinvar	89941743	100.0	T	C	PASS	0/1	27	None	None	None	0.24960	0.24960	0.18186				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs16868903 dbSNP Clinvar	89940771	100.0	A	G	PASS	0/1	28	None	None	None	0.24062	0.24060					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs2366773 dbSNP Clinvar	89938587	100.0	C	T	PASS	0/1	96	None	None	None	0.82129	0.82130	0.25136				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs1344030 dbSNP Clinvar	89938434	100.0	G	T	PASS	0/1	68	None	None	None	0.24042	0.24040	0.17018				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs3838659 dbSNP Clinvar	89931159	100.0	CA	C	PASS	0/1	76	None	None	None	0.24042	0.24040	0.17361				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs56360530 dbSNP Clinvar	89925410	100.0	C	T	PASS	0/1	43	None	None	None	0.24042	0.24040					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs2366771 dbSNP Clinvar	89924976	100.0	C	A	PASS	0/1	60	None	None	None	0.79034	0.79030	0.28226				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs796402339 dbSNP Clinvar	67584512	100.0	AT	A	R5x9	0/1	49	None	None	None							None None	None None None None	PIK3R1\|0.917149804\|3.05%
	View	12067_s13	5	rs171649 dbSNP Clinvar	67569746	100.0	G	A	PASS	1/1	48	None	None	None	0.28734	0.28730	0.26949				None None	None None None None	PIK3R1\|0.917149804\|3.05%
	View	12067_s13	5	rs706714 dbSNP Clinvar	67522851	100.0	A	C	PASS	1/1	111	None	None	None	0.42492	0.42490	0.29388				None None	None None None None	PIK3R1\|0.917149804\|3.05%
	View	12067_s13	5	rs1160121 dbSNP Clinvar	90001988	100.0	G	T	PASS	0/1	33	None	None	None	0.70807	0.70810					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs13188659 dbSNP Clinvar	135396468	100.0	T	A	PASS	1/1	30	None	None	None	0.59365	0.59370					None None	None None None None	TGFBI\|0.999587957\|0.3%
	View	12067_s13	5	rs13168506 dbSNP Clinvar	135396452	100.0	A	G	PASS	1/1	30	None	None	None	0.59565	0.59560					None None	None None None None	TGFBI\|0.999587957\|0.3%
	View	12067_s13	5	rs6860369 dbSNP Clinvar	135391326	100.0	A	G	PASS	0/1	50	None	None	None	0.40415	0.40420	0.37090				None None	None None None None	TGFBI\|0.999587957\|0.3%
	View	12067_s13	5	rs6889640 dbSNP Clinvar	135389425	100.0	C	A	PASS	0/1	25	None	None	None	0.36981	0.36980					None None	None None None None	TGFBI\|0.999587957\|0.3%
	View	12067_s13	5	rs17169753 dbSNP Clinvar	135385316	100.0	T	C	PASS	0/1	86	None	None	None	0.40655	0.40650	0.36110				None None	None None None None	TGFBI\|0.999587957\|0.3%
	View	12067_s13	5	rs7726023 dbSNP Clinvar	90449031	100.0	T	C	PASS	1/1	39	None	None	None	0.89836	0.89840	0.08332				None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs72784680 dbSNP Clinvar	90445831	100.0	T	C	PASS	0/1	75	None	None	None	0.09046	0.09046					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs35858094 dbSNP Clinvar	90445829	100.0	T	TTC	R5x9	0/1	75	None	None	None	0.67372	0.67370					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs141501365 dbSNP Clinvar	90086590	100.0	ATT	A	PASS	0/1	40	None	None	None	0.06769	0.08746					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs879571 dbSNP Clinvar	90079972	100.0	C	T	PASS	0/1	29	None	None	None	0.31909	0.31910					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs881289 dbSNP Clinvar	90059001	75.0	T	A	PASS	0/1	17	None	None	None	0.72844	0.72840					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs62373966 dbSNP Clinvar	90058982	75.0	T	G	PASS	0/1	17	None	None	None	0.19249	0.19250					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs2438339 dbSNP Clinvar	90049238	100.0	A	G	PASS	0/1	32	None	None	None	0.82828	0.82830					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs201379473 dbSNP Clinvar	90024467	100.0	A	T	PASS	0/1	57	None	None	None	0.00080	0.00080					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs4916815 dbSNP Clinvar	90021499	100.0	G	T	PASS	0/1	25	None	None	None		0.60260					None None	None None None None	ADGRV1\|0.328571635\|25.58%
	View	12067_s13	5	rs7723259 dbSNP Clinvar	90020868	100.0	A	C	PASS	0/1	85	None	None	None	0.79812	0.79810	0.28279				None None	None None None None	ADGRV1\|0.328571635\|25.58%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 3

+ Genes associated with diseases 2

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

GPR98

PIK3R1

TGFBI

Langdon's Birthday

Frodo Updated His Profile

Nora Joined Mailing List

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