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

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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

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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

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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 16

Genes:
ASS1, BRD3, CDK5RAP2, DNM1, EHMT1, GABBR2, GALT, GLDC, GRIN1, KCNT1, LAMC3, MAN1B1, PAX5, SLC1A1, SMARCA2, SPTAN1,

+ Genes associated with diseases 15

Genes at Omim

ASS1, CDK5RAP2, DNM1, EHMT1, GABBR2, GALT, GLDC, GRIN1, KCNT1, LAMC3, MAN1B1, PAX5, SLC1A1, SMARCA2, SPTAN1,

ASS1	Citrullinemia, 215700 (3)
CDK5RAP2	Microcephaly 3, primary, autosomal recessive, 604804 (3)
DNM1	Epileptic encephalopathy, early infantile, 31, 616346 (3)
EHMT1	Kleefstra syndrome 1, 610253 (3)
GABBR2	{Nicotine dependence, protection against}, 188890 (3) {Nicotine dependence, susceptibility to}, 188890 (3) Epileptic encephalopathy, early infantile, 59, 617904 (3) Neurodevelopmental disorder with poor language and loss of hand skills, 617903 (3)
GALT	Galactosemia, 230400 (3)
GLDC	Glycine encephalopathy, 605899 (3)
GRIN1	Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant, 614254 (3) Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive, 617820 (3)
KCNT1	Epilepsy, nocturnal frontal lobe, 5, 615005 (3) Epileptic encephalopathy, early infantile, 14, 614959 (3)
LAMC3	Cortical malformations, occipital, 614115 (3)
MAN1B1	Mental retardation, autosomal recessive 15, 614202 (3)
PAX5	{Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3)
SLC1A1	Dicarboxylic aminoaciduria, 222730 (3) {?Schizophrenia susceptibility 18}, 615232 (3)
SMARCA2	Nicolaides-Baraitser syndrome, 601358 (3)
SPTAN1	Epileptic encephalopathy, early infantile, 5, 613477 (3)

Genes at Clinical Genomics Database

ASS1, CDK5RAP2, DNM1, EHMT1, GALT, GLDC, GRIN1, KCNT1, LAMC3, MAN1B1, PAX5, SLC1A1, SMARCA2, SPTAN1,

ASS1	Citrullinemia
CDK5RAP2	Microcephaly, primary autosomal recessive, 3
DNM1	Epileptic encephalopathy, early infantile 31
EHMT1	Kleefstra syndrome
GALT	Galactosemia
GLDC	Glycine encephalopathy
GRIN1	Mental retardation, autosomal dominant 8
KCNT1	Epilepsy, nocturnal frontal lobe, 5 Early infantile epileptic encephalopathy 14
LAMC3	Cortical malformations, occipital
MAN1B1	Mental retardation, autosomal recessive 15
PAX5	Pre-B cell acute lymphoblastic leukemia
SLC1A1	Dicarboxylic aminoaciduria
SMARCA2	Nicolaides-Baraitser syndrome
SPTAN1	Epileptic encephalopathy, early infantile, 5

Genes at HGMD

Summary

Number of Variants: 251
Number of Genes: 16

Export to: CSV

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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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs10819420 dbSNP Clinvar	131353567	120.03	C	G	.	1/1	4	None	None	None							None None	None None None None	SPTAN1\|0.694942404\|8.65%
SPTAN1
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs1415568 dbSNP Clinvar	131375701	2355.77	A	G	.	1/1	72	SYNONYMOUS_CODING	LOW	None	0.98482	0.98480	0.01461				None None	None None None None	SPTAN1\|0.694942404\|8.65%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs2227862 dbSNP Clinvar	131379967	2138.77	C	T	.	1/1	63	SYNONYMOUS_CODING	LOW	None	0.61701	0.61700	0.26718				None None	None None None None	SPTAN1\|0.694942404\|8.65%
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs10776842 dbSNP Clinvar	138650121	156.77	A	G	.	0/1	10	None	None	None							None None	None None None None	KCNT1\|0.089485146\|53.34%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs12379259 dbSNP Clinvar	2622121	18.59	A	G	LowQual	1/1	2	None	None	None	0.81230	0.81230					None None	None None None None	VLDLR\|0.558705939\|13.41%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs11103170 dbSNP Clinvar	138650122	134.77	C	T	.	0/1	10	None	None	None							None None	None None None None	KCNT1\|0.089485146\|53.34%
PAX5
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs3780135 dbSNP Clinvar	36840623	771.77	G	A	.	1/1	24	SYNONYMOUS_CODING	LOW	None	0.74201	0.74200	0.23688			-0.04	None None	None None None None	PAX5\|0.967915764\|1.77%
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs10964528 dbSNP Clinvar	2039983	872.77	A	C	.	0/1	62	None	None	None	0.41014	0.41010					None None	None None None None	None
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs571497167,rs538594475 dbSNP Clinvar	2047083	397.73	CT	C	.	0/1	66	None	None	None	0.18610	0.18610					None None	None None None None	None
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs3829069 dbSNP Clinvar	2056563	66.77	G	A	.	0/1	6	None	None	None	0.41354	0.41350					None None	None None None None	None
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs150124430 dbSNP Clinvar	2056861	1131.73	G	GT	.	0/1	45	None	None	None	0.07548	0.07548	0.13069				None None	None None None None	None
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs6475447 dbSNP Clinvar	2058133	119.78	T	C	.	0/1	5	None	None	None	0.41613	0.41610					None None	None None None None	None
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs3737268 dbSNP Clinvar	2073162	650.77	G	C	.	0/1	45	None	None	None	0.10743	0.10740	0.11772				None None	None None None None	None
SMARCA2
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs13288443 dbSNP Clinvar	2073292	1265.77	A	G	.	0/1	76	SYNONYMOUS_CODING	LOW	None	0.10743	0.10740	0.11879				None None	None None None None	None
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs7864080 dbSNP Clinvar	2073514	1810.77	A	T	.	1/1	50	None	None	None	0.45427	0.45430	0.45214				None None	None None None None	None
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs3765579 dbSNP Clinvar	2077875	789.77	T	C	.	1/1	21	None	None	None	0.44369	0.44370					None None	None None None None	None
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs3765580 dbSNP Clinvar	2077888	353.77	A	G	.	0/1	17	None	None	None	0.26058	0.26060					None None	None None None None	None
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs60293281,rs796301316 dbSNP Clinvar	2097548	378.73	GA	G	.	0/1	43	None	None	None							None None	None None None None	None
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs2275419 dbSNP Clinvar	2097585	239.77	C	T	.	0/1	22	None	None	None	0.35543	0.35540					None None	None None None None	None
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs10757158 dbSNP Clinvar	2101434	132.77	G	A	.	0/1	10	None	None	None	0.36701	0.36700					None None	None None None None	None
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs641510 dbSNP Clinvar	133346983	1855.77	A	G	.	1/1	52	None	None	None	0.92512	0.92510	0.07709				None None	None None None None	ASS1\|0.463790404\|17.47%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs10738570 dbSNP Clinvar	2101545	1039.77	T	A	.	0/1	62	None	None	None	0.31869	0.31870	0.27705				None None	None None None None	None
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs1986592 dbSNP Clinvar	2103950	841.77	T	C	.	0/1	48	None	None	None	0.43810	0.43810					None None	None None None None	None
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs1962292 dbSNP Clinvar	2110581	116.77	A	G	.	0/1	7	None	None	None	0.30292	0.30290					None None	None None None None	None
SMARCA2
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs6601 dbSNP Clinvar	2116037	998.77	G	A	.	0/1	61	SYNONYMOUS_CODING	LOW	None	0.23542	0.23540	0.26803				None None	None None None None	None
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs3793511 dbSNP Clinvar	2170512	1508.77	G	C	.	1/1	43	None	None	None	0.40375	0.40380	0.44041				None None	None None None None	None
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs2281786 dbSNP Clinvar	2182062	1631.77	A	G	.	1/1	49	None	None	None	0.71825	0.71830					None None	None None None None	None
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs10974624 dbSNP Clinvar	4561374	776.77	C	T	.	0/1	46	None	None	None	0.25619	0.25620					None None	None None None None	SLC1A1\|0.254280296\|31.18%,SPATA6L\|0.02025056\|74.04%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs10974625 dbSNP Clinvar	4561596	594.77	G	A	.	0/1	35	None	None	None	0.00579	0.27120	0.21945				None None	None None None None	SLC1A1\|0.254280296\|31.18%,SPATA6L\|0.02025056\|74.04%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs1805311 dbSNP Clinvar	4561651	177.77	G	A	.	0/1	9	None	None	None	0.25399	0.25400					None None	None None None None	SLC1A1\|0.254280296\|31.18%,SPATA6L\|0.02025056\|74.04%
SLC1A1
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs2228622 dbSNP Clinvar	4564432	660.77	G	A	.	0/1	45	SYNONYMOUS_CODING	LOW	None	0.32828	0.32830	0.35637				None None	None None None None	SLC1A1\|0.254280296\|31.18%,SPATA6L\|0.02025056\|74.04%
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs7022772 dbSNP Clinvar	4566210	791.77	A	C	.	1/1	22	None	None	None	0.79792	0.79790					None None	None None None None	SLC1A1\|0.254280296\|31.18%,SPATA6L\|0.02025056\|74.04%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs2277202 dbSNP Clinvar	34648020	308.77	G	A	.	0/1	39	None	None	None	0.04153	0.04153					None None	None None None None	GALT\|0.258615009\|30.87%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs3780412 dbSNP Clinvar	4572480	339.77	T	C	.	0/1	15	None	None	None	0.44968	0.44970					None None	None None None None	SLC1A1\|0.254280296\|31.18%,SPATA6L\|0.02025056\|74.04%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs41279547 dbSNP Clinvar	4576218	547.77	G	C	.	0/1	29	None	None	None	0.00679	0.00679					None None	None None None None	SLC1A1\|0.254280296\|31.18%,SPATA6L\|0.02025056\|74.04%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs301979 dbSNP Clinvar	4576851	758.77	G	C	.	1/1	20	None	None	None	0.71426	0.71430					None None	None None None None	SLC1A1\|0.254280296\|31.18%,SPATA6L\|0.02025056\|74.04%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs2228098 dbSNP Clinvar	6533010	725.77	C	G	.	0/1	50	None	None	None	0.75519	0.75520	0.34807				None None	None None None None	GLDC\|0.25815224\|30.92%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs4740848 dbSNP Clinvar	6554558	990.77	G	A	.	1/1	27	None	None	None	0.53395	0.53390					None None	None None None None	GLDC\|0.25815224\|30.92%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs12683164 dbSNP Clinvar	6554589	413.77	G	C	.	0/1	45	None	None	None	0.23762	0.23760					None None	None None None None	GLDC\|0.25815224\|30.92%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs2274874 dbSNP Clinvar	6554844	776.77	G	C	.	0/1	47	None	None	None	0.27037	0.27040					None None	None None None None	GLDC\|0.25815224\|30.92%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs968197 dbSNP Clinvar	6587054	760.77	A	T	.	0/1	38	None	None	None	0.44689	0.44690					None None	None None None None	GLDC\|0.25815224\|30.92%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs11789777 dbSNP Clinvar	6594978	943.77	T	C	.	0/1	62	None	None	None	0.19948	0.19950	0.20498				None None	None None None None	GLDC\|0.25815224\|30.92%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs13298254 dbSNP Clinvar	6606388	180.77	C	A	.	0/1	13	None	None	None	0.03175	0.03175					None None	None None None None	GLDC\|0.25815224\|30.92%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs10975681 dbSNP Clinvar	6606746	651.77	T	C	.	0/1	62	None	None	None	0.29633	0.29630					None None	None None None None	GLDC\|0.25815224\|30.92%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs141545653 dbSNP Clinvar	6606811	277.77	G	A	.	0/1	27	None	None	None	0.00379	0.00379					None None	None None None None	GLDC\|0.25815224\|30.92%
GLDC
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs35374927 dbSNP Clinvar	6610326	1142.77	C	T	.	0/1	75	SYNONYMOUS_CODING	LOW	None	0.19209	0.19210	0.23620				None None	None None None None	GLDC\|0.25815224\|30.92%
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs2118653 dbSNP Clinvar	6620059	382.77	A	G	.	0/1	23	None	None	None	0.76278	0.76280					None None	None None None None	GLDC\|0.25815224\|30.92%
GLDC
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs13289273 dbSNP Clinvar	6620216	1335.77	C	T	.	0/1	82	SYNONYMOUS_CODING	LOW	None	0.02975	0.02975	0.06751				None None	None None None None	GLDC\|0.25815224\|30.92%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs12341698 dbSNP Clinvar	6645251	621.77	C	T	.	0/1	48	SYNONYMOUS_CODING	LOW	None	0.24920	0.24920	0.20852				None None	None None None None	GLDC\|0.25815224\|30.92%
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs41274865 dbSNP Clinvar	34647802	776.77	G	C	.	0/1	53	None	None	None	0.04153	0.04153	0.04590				None None	None None None None	GALT\|0.258615009\|30.87%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs41274867 dbSNP Clinvar	34648088	575.77	G	A	.	0/1	44	None	None	None	0.04153	0.04153	0.04583				None None	None None None None	GALT\|0.258615009\|30.87%
GALT
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs2070074 dbSNP Clinvar	34649442	684.77	A	G	.	0/1	48	NON_SYNONYMOUS_CODING	MODERATE	None	0.07288	0.07288	0.07151	1.00	0.00	0.95	None None	None None None None	GALT\|0.258615009\|30.87%
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs1053318 dbSNP Clinvar	35056961	295.77	C	A	.	0/1	16	None	None	None	0.18670	0.18670					None None	None None None None	VCP\|0.893080702\|3.59%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs684562 dbSNP Clinvar	35060302	1737.77	T	C	.	1/1	49	None	None	None	0.40875	0.40870	0.43795				None None	None None None None	VCP\|0.893080702\|3.59%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs562381 dbSNP Clinvar	35060746	1900.77	A	G	.	1/1	55	None	None	None	0.69189	0.69190	0.25706				None None	None None None None	VCP\|0.893080702\|3.59%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs2258240 dbSNP Clinvar	35060955	2070.77	T	C	.	1/1	60	None	None	None	0.70188	0.70190	0.23828				None None	None None None None	VCP\|0.893080702\|3.59%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs11272867 dbSNP Clinvar	35061693	5601.73	G	GA...	.	1/1	74	None	None	None	0.40835	0.40830					None None	None None None None	VCP\|0.893080702\|3.59%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs514492 dbSNP Clinvar	35062972	2272.77	C	T	.	1/1	66	None	None	None	0.70108	0.70110	0.24058				None None	None None None None	VCP\|0.893080702\|3.59%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs35504855,rs398010682 dbSNP Clinvar	35066579	292.73	T	TA	.	1/1	23	None	None	None	0.38059	0.38060					None None	None None None None	VCP\|0.893080702\|3.59%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs10972300 dbSNP Clinvar	35068201	1188.77	C	T	.	0/1	61	None	None	None	0.17033	0.17030	0.18353				None None	None None None None	VCP\|0.893080702\|3.59%
PAX5
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs376375916 dbSNP Clinvar	36923395	861.77	G	A	.	0/1	48	SYNONYMOUS_CODING	LOW	None							None None	None None None None	PAX5\|0.967915764\|1.77%
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs2297105 dbSNP Clinvar	37020622	1676.77	A	C	.	1/1	50	None	None	None	0.55172	0.55170	0.46940				None None	None None None None	PAX5\|0.967915764\|1.77%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs143723948 dbSNP Clinvar	37034095	69.77	C	T	.	0/1	12	None	None	None	0.00060	0.49660					None None	None None None None	PAX5\|0.967915764\|1.77%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs2304388 dbSNP Clinvar	101151307	426.77	A	T	.	0/1	39	None	None	None	0.10383	0.10380	0.09995				None None	None None None None	GABBR2\|0.519790848\|15.02%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs724890 dbSNP Clinvar	101151382	111.77	C	T	.	0/1	18	None	None	None	0.21845	0.21850					None None	None None None None	GABBR2\|0.519790848\|15.02%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs2779547 dbSNP Clinvar	101243021	342.78	T	C	.	1/1	9	None	None	None	0.78415	0.78410					None None	None None None None	GABBR2\|0.519790848\|15.02%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs2808557 dbSNP Clinvar	101243364	1348.77	T	G	.	1/1	38	None	None	None	0.76578	0.76580					None None	None None None None	GABBR2\|0.519790848\|15.02%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs1000440 dbSNP Clinvar	101258881	557.77	T	C	.	0/1	35	None	None	None	0.49101	0.49100					None None	None None None None	GABBR2\|0.519790848\|15.02%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs2184026 dbSNP Clinvar	101304348	777.77	C	T	.	0/1	58	None	None	None	0.24641	0.24640	0.16216				None None	None None None None	GABBR2\|0.519790848\|15.02%
GABBR2
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs2808536 dbSNP Clinvar	101340301	2669.77	A	C	.	1/1	79	SYNONYMOUS_CODING	LOW	None	0.73103	0.73100	0.21090				None None	None None None None	GABBR2\|0.519790848\|15.02%
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs3750343 dbSNP Clinvar	101340425	1645.77	A	G	.	1/1	44	None	None	None	0.55092	0.55090					None None	None None None None	GABBR2\|0.519790848\|15.02%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs2808537 dbSNP Clinvar	101340440	1377.77	A	G	.	1/1	37	None	None	None	0.69529	0.69530					None None	None None None None	GABBR2\|0.519790848\|15.02%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs4577 dbSNP Clinvar	104184022	790.77	G	A	.	0/1	60	None	None	None	0.44189	0.44190					None None	None None None None	ALDOB\|0.494696623\|16.09%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs682 dbSNP Clinvar	104187020	100.77	C	T	.	0/1	9	None	None	None	0.51617	0.51620					None None	None None None None	ALDOB\|0.494696623\|16.09%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs681 dbSNP Clinvar	104187041	102.77	A	G	.	0/1	10	None	None	None	0.55152	0.55150					None None	None None None None	ALDOB\|0.494696623\|16.09%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs506571 dbSNP Clinvar	104187400	316.77	A	G	.	0/1	19	None	None	None	0.45008	0.45010					None None	None None None None	ALDOB\|0.494696623\|16.09%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs1929480 dbSNP Clinvar	104189680	391.77	T	G	.	0/1	32	None	None	None	0.16034	0.16030					None None	None None None None	ALDOB\|0.494696623\|16.09%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs16909739 dbSNP Clinvar	123166107	109.77	A	G	.	0/1	7	None	None	None	0.03554	0.03554					None None	None None None None	CDK5RAP2\|0.080331777\|55.08%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs201128059 dbSNP Clinvar	123205755	491.73	CT	C	.	0/1	20	None	None	None	0.00359	0.00359					None None	None None None None	CDK5RAP2\|0.080331777\|55.08%
CDK5RAP2
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs2501727 dbSNP Clinvar	123220829	967.77	A	G	.	0/1	71	SYNONYMOUS_CODING	LOW	None	0.23283	0.23280	0.18407				None None	None None None None	CDK5RAP2\|0.080331777\|55.08%
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs3003574 dbSNP Clinvar	130981145	205.84	T	A	.	1/1	6	None	None	None	0.87540	0.87540					None None	None None None None	DNM1\|0.556141328\|13.49%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs2490594 dbSNP Clinvar	123249744	789.77	A	C	.	0/1	50	None	None	None	0.21046	0.21050	0.16325				None None	None None None None	CDK5RAP2\|0.080331777\|55.08%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs2095064 dbSNP Clinvar	123280950	902.77	T	C	.	0/1	60	None	None	None	0.79573	0.79570	0.16308				None None	None None None None	CDK5RAP2\|0.080331777\|55.08%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs41305509 dbSNP Clinvar	123290996	1187.77	C	A	.	0/1	75	None	None	None	0.14697	0.14700	0.09580				None None	None None None None	CDK5RAP2\|0.080331777\|55.08%
CDK5RAP2
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs4836822 dbSNP Clinvar	123291036	1172.77	C	G	.	0/1	83	NON_SYNONYMOUS_CODING	MODERATE	None	0.80112	0.80110	0.15162	0.06	0.67	2.31	None None	None None None None	CDK5RAP2\|0.080331777\|55.08%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs3750494 dbSNP Clinvar	123301346	1159.77	T	G	.	0/1	87	SYNONYMOUS_CODING	LOW	None	0.11661	0.11660	0.06028				None None	None None None None	CDK5RAP2\|0.080331777\|55.08%
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs60645195,rs796859613 dbSNP Clinvar	123307915	829.73	GA	G	.	0/1	68	None	None	None	0.11342	0.11340					None None	None None None None	CDK5RAP2\|0.080331777\|55.08%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs10739564 dbSNP Clinvar	123308276	219.84	T	C	.	1/1	6	None	None	None	0.96586	0.96590					None None	None None None None	CDK5RAP2\|0.080331777\|55.08%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs954214 dbSNP Clinvar	123313246	299.77	T	C	.	0/1	40	None	None	None	0.79992	0.79990					None None	None None None None	CDK5RAP2\|0.080331777\|55.08%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs4837782 dbSNP Clinvar	123330813	213.77	T	C	.	0/1	14	None	None	None	0.82328	0.82330					None None	None None None None	CDK5RAP2\|0.080331777\|55.08%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs932975 dbSNP Clinvar	123342259	2071.77	C	A	.	1/1	61	None	None	None	0.98043	0.98040	0.02622				None None	None None None None	CDK5RAP2\|0.080331777\|55.08%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs932974 dbSNP Clinvar	123342275	1805.77	A	G	.	1/1	54	None	None	None	0.96546	0.96550	0.04121				None None	None None None None	CDK5RAP2\|0.080331777\|55.08%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs7036307 dbSNP Clinvar	130425777	293.78	C	T	.	1/1	9	None	None	None	0.99401	0.99400					None None	None None None None	STXBP1\|0.391277269\|21.32%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs955159772 dbSNP Clinvar	130435355	745.77	G	A	.	0/1	48	None	None	None							None None	None None None None	STXBP1\|0.391277269\|21.32%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs4836575 dbSNP Clinvar	130446493	671.77	A	G	.	1/1	18	None	None	None	0.00439	0.00439					None None	None None None None	STXBP1\|0.391277269\|21.32%
DNM1
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs2229917 dbSNP Clinvar	130980937	852.77	G	A	.	0/1	62	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None	0.10124	0.10120	0.12125				None None	None None None None	DNM1\|0.556141328\|13.49%
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs3003602 dbSNP Clinvar	130981064	596.77	C	T	.	1/1	20	None	None	None	0.61482	0.61480					None None	None None None None	DNM1\|0.556141328\|13.49%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs3003606 dbSNP Clinvar	130982416	894.77	C	T	.	0/1	57	None	None	None	0.46326	0.46330	0.41266				None None	None None None None	DNM1\|0.556141328\|13.49%
	View	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs3003608 dbSNP Clinvar	130984430	779.77	C	A	.	0/1	61	None	None	None	0.58127	0.58130	0.46848				None None	None None None None	DNM1\|0.556141328\|13.49%
DNM1
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	dossier4-di450-2-b00h4r3_hg19_snp annot	9	rs3003609 dbSNP Clinvar	130984755	969.77	C	T	.	0/1	61	SYNONYMOUS_CODING	LOW	None	0.45467	0.45470	0.40428				None None	None None None None	DNM1\|0.556141328\|13.49%

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+ Genes 16

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Genes at Omim

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Summary

SPTAN1

PAX5

SMARCA2

SMARCA2

SLC1A1

GLDC

GLDC

GALT

PAX5

GABBR2

CDK5RAP2

CDK5RAP2

DNM1

DNM1

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