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INDIVIDUALS: SNP LIST:	GROUPS: SAVED GENE LIST: GENE LIST:	INDIVIDUALS: EXCLUDE SNP LIST:	EXCLUDE GROUPS: EXCLUDE SAVED GENE LIST: EXCLUDE GENE LIST:
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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 20

Genes:
AC110781.3, ANKRD20A1, APOL4, ATP6V1B1, C19orf26, ERCC6L2, FAM188B, HIBCH, IFNA13, IGHV3-23, IGHV3-64, IGLV3-12, JSRP1, KCNJ16, KRTAP9-1, LENG9, MTTP, NOL12, OR8K1, SCAPER,

+ Genes associated with diseases 5

Genes at Omim

APOL4, ERCC6L2, HIBCH, MTTP, SCAPER,

APOL4	{Schizophrenia}, 181500 (1)
ERCC6L2	Bone marrow failure syndrome 2, 615715 (3)
HIBCH	3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)
MTTP	{Metabolic syndrome, protection against}, 605552 (3) Abetalipoproteinemia, 200100 (3)
SCAPER	Intellectual developmental disorder and retinitis pigmentosa, 618195 (3)

Genes at Clinical Genomics Database

ATP6V1B1, ERCC6L2, HIBCH, MTTP,

ATP6V1B1	Renal tubular acidosis with deafness
ERCC6L2	Bone marrow failure syndrome 2
HIBCH	3-hydroxyisobutryl-CoA hydrolase deficiency
MTTP	Abetalipoproteinemia

Genes at HGMD

Summary

Number of Variants: 20
Number of Genes: 20

Export to: CSV

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AC110781.3
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	mm180111m	7	rs3889573 dbSNP Clinvar	1878377	5541.77	A	G	.	1/1	194	START_LOST	HIGH	None	0.83646	0.83650			0.00		None None	None None None None	MAD1L1\|0.134111219\|45.25%
ANKRD20A1
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	mm180111m	9	.	67926873	11.12	A	G	LowQual	0/1	33	START_LOST	HIGH	None				0.00	0.02		None None	None None None None	ANKRD20A1\|0.001623081\|92.24%
APOL4
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	mm180111m	22	rs6000181 dbSNP Clinvar	36598081	2775.77	A	T	.	0/1	225	START_LOST	HIGH	None	0.07668	0.07668	0.08435	0.00	0.01		None None	None None None None	APOL4\|0.000586223\|97.99%
ATP6V1B1
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	mm180111m	2	rs11681642 dbSNP Clinvar	71163086	1776.77	T	C	.	0/1	146	START_LOST	HIGH	None	0.36881	0.36880	0.41504	0.00	0.60		None None	None None None None	ATP6V1B1\|0.123167959\|46.96%
C19orf26
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	mm180111m	19	rs113298601 dbSNP Clinvar	1236080	2219.77	A	G	.	0/1	205	START_LOST	HIGH	None	0.00459	0.00459	0.01311	0.08	0.01		None None	None None None None	C19orf26\|0.024523264\|72.02%
ERCC6L2
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	mm180111m	9	rs690528 dbSNP Clinvar	98638288	1787.77	A	G	.	0/1	138	START_LOST	HIGH	None	0.25240	0.25240	0.24126	0.71	0.00		None None	None None None None	ERCC6L2\|0.051614036\|62.16%
FAM188B
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	mm180111m	7	rs10216063 dbSNP Clinvar	30915263	1229.77	A	G	.	0/1	110	START_LOST	HIGH	None	0.45967	0.45970	0.31216	1.00	0.00		None None	None None None None	FAM188B\|0.025227559\|71.7%,AQP1\|0.308533326\|26.95%
HIBCH
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	mm180111m	2	rs291466 dbSNP Clinvar	191184475	5051.77	A	G	.	1/1	189	START_LOST	HIGH	None	0.43171	0.43170	0.44810	0.01	0.02		None None	None None None None	HIBCH\|0.096813865\|51.74%
IFNA13
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	mm180111m	9	rs146195386 dbSNP Clinvar	21368008	32.77	A	G	.	0/1	168	START_LOST	HIGH	None				0.02	0.00		None None	None None None None	IFNA13\|0.001617129\|92.26%
IGHV3-23
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	mm180111m	14	rs781968724 dbSNP Clinvar	106725653	88.77	A	T	.	0/1	278	START_LOST	HIGH	None				0.00	0.96		None None	None None None None	None
IGHV3-64
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	mm180111m	14	rs782379681 dbSNP Clinvar	107114195	929.77	C	G	.	0/1	462	START_LOST	HIGH	None				1.00	0.00		None None	None None None None	None
IGLV3-12
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	mm180111m	22	rs6003299 dbSNP Clinvar	23114327	5531.77	T	C	.	1/1	201	START_LOST	HIGH	None	0.60863	0.60860		0.00	1.00		None None	None None None None	None
JSRP1
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	mm180111m	19	rs7250822 dbSNP Clinvar	2255311	627.77	C	G	.	0/1	71	START_LOST	HIGH	None	0.23482	0.23480	0.15601	0.90	0.00		None None	None None None None	JSRP1\|0.001614314\|92.27%
KCNJ16
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	mm180111m	17	rs7224070 dbSNP Clinvar	68093044	1267.77	A	G	.	1/1	46	START_LOST	HIGH	None	0.83107	0.83110			0.00		None None	None None None None	KCNJ16\|0.085500733\|54.06%
KRTAP9-1
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	mm180111m	17	rs61743546 dbSNP Clinvar	39346139	737.77	A	G	.	0/1	76	START_LOST	HIGH	None	0.14357	0.14360		0.60	0.00		None None	None None None None	KRTAP9-1\|0.001839367\|91.43%
LENG9
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	mm180111m	19	rs1981829 dbSNP Clinvar	54974774	469.77	A	T	.	0/1	38	START_LOST	HIGH	None	0.59365	0.59370		0.02	0.00		None None	None None None None	LENG9\|0.000334699\|99.27%
MTTP
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	mm180111m	4	rs11944752 dbSNP Clinvar	100485255	938.77	G	A	.	0/1	79	START_LOST	HIGH	None	0.25000	0.25000			0.00		None None	None None None None	MTTP\|0.164689629\|40.96%
NOL12
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	mm180111m	22	rs748899728 dbSNP Clinvar	38082401	2433.77	T	C	.	0/1	237	START_LOST	HIGH	None				0.00	0.92		None None	None None None None	NOL12\|0.072676948\|56.86%
OR8K1
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	mm180111m	11	rs1905055 dbSNP Clinvar	56113516	683.77	T	C	.	0/1	57	START_LOST	HIGH	None	0.77995	0.78000	0.32099	0.00	0.01		None None	None None None None	OR8K1\|0.005619396\|85.08%
SCAPER
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	mm180111m	15	rs3812908 dbSNP Clinvar	77176158	348.77	T	C	.	0/1	34	START_LOST	HIGH	None	0.41773	0.41770	0.29627	0.15	0.00		None None	None None None None	SCAPER\|0.365657343\|23.01%

+ Filter Options

FREQUENCIES

SCORES

+ Genes 20

+ Genes associated with diseases 5

Genes at Omim

Genes at Clinical Genomics Database

Genes at HGMD

Summary

AC110781.3

ANKRD20A1

APOL4

ATP6V1B1

C19orf26

ERCC6L2

FAM188B

HIBCH

IFNA13

IGHV3-23

IGHV3-64

IGLV3-12

JSRP1

KCNJ16

KRTAP9-1

LENG9

MTTP

NOL12

OR8K1

SCAPER

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