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Genes:
A4GALT, AC002472.13, AC006547.14, AC006946.15, AC008132.1, AC008132.13, ACO2, ACR, ADM2, ADORA2A, ADRBK2, AIFM3, ALG12, AP000350.4, AP1B1, APOBEC3A, APOBEC3B, APOBEC3F, APOBEC3G, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, ARFGAP3, ARHGAP8, ARSA, ARVCF, ASCC2, ATF4, ATP5L2, BAIAP2L2, BCL2L13, BCR, BPIFC, BRD1, C1QTNF6, C22orf15, C22orf23, C22orf24, C22orf26, C22orf29, C22orf34, C22orf43, C22orf46, CABIN1, CARD10, CCDC157, CCT8L2, CDC42EP1, CDC45, CDPF1, CECR1, CECR2, CECR5, CECR6, CELSR1, CENPM, CERK, CHCHD10, CHKB, CLDN5, CLTCL1, COMT, CPT1B, CRELD2, CRYBA4, CRYBB3, CSF2RB, CTA-299D3.8, CYP2D6, CYP2D7P, DENND6B, DEPDC5, DERL3, DGCR14, DGCR2, DGCR6, DGCR6L, DNAL4, EFCAB6, EIF3L, EIF4ENIF1, ELFN2, EMID1, EP300, FAM109B, FAM118A, FAM19A5, FBLN1, FBXO7, FLJ27365, FOXRED2, GAB4, GALR3, GAS2L1, GATSL3, GCAT, GGT1, GGT2, GGT5, GGTLC2, GNAZ, GNB1L, GP1BB, GRAMD4, GSTT2B, GTSE1, HDAC10, HIC2, HMGXB4, HPS4, IGLC3, IGLC7, IGLJ3, IGLJ5, IGLJ7, IGLV1-36, IGLV1-47, IGLV1-50, IGLV10-54, IGLV11-55, IGLV2-14, IGLV2-18, IGLV2-23, IGLV2-8, IGLV3-12, IGLV3-16, IGLV3-21, IGLV3-22, IGLV3-25, IGLV4-60, IGLV5-37, IGLV5-45, IGLV5-48, IGLV6-57, IGLV7-46, IGLV9-49, IL17RA, IL17REL, INPP5J, ISX, KCNJ4, KCTD17, KIAA0930, KIAA1644, KIAA1671, KLHDC7B, KREMEN1, L3MBTL2, LARGE, LIMK2, LL22NC03-75H12.2, LMF2, LRP5L, LZTR1, MAPK11, MAPK12, MAPK8IP2, MB, MCHR1, MED15, MEI1, MICAL3, MICALL1, MIEF1, MKL1, MMP11, MN1, MORC2, MOV10L1, MPPED1, MTFP1, MTMR3, MYH9, MYO18B, NAGA, NCAPH2, NCF4, NDUFA6, NEFH, NFAM1, NIPSNAP1, NPTXR, NUP50, OR11H1, OSBP2, P2RX6, PACSIN2, PANX2, PARVB, PARVG, PI4KA, PIK3IP1, PIM3, PIWIL3, PKDREJ, PLA2G3, PLA2G6, PLXNB2, PNPLA3, PNPLA5, POM121L7, POTEH, PPIL2, PPM1F, PPP6R2, PRAME, PRODH, PRR14L, PRR5, RAB36, RANGAP1, RBFOX2, RFPL1, RFPL2, RFPL3, RGL4, RHBDD3, RIBC2, RIMBP3, RIMBP3B, RNF215, RP1-32I10.10, RPL3, RRP7A, RTCB, RTDR1, RTN4R, SAMM50, SBF1, SCARF2, SCO2, SCUBE1, SEC14L2, SEC14L3, SEC14L6, SELO, SERHL2, SEZ6L, SF3A1, SFI1, SGSM1, SH3BP1, SLC16A8, SLC2A11, SLC35E4, SLC7A4, SMARCB1, SMC1B, SMTN, SNAP29, SNRPD3, SOX10, SPECC1L, SREBF2, SRRD, SSTR3, ST13, SUSD2, SYN3, SYNGR1, TBC1D10A, TBC1D22A, TCF20, TCN2, THAP7, THOC5, TIMP3, TMEM211, TMPRSS6, TOB2, TOM1, TOP3B, TPST2, TRIOBP, TRMU, TSPO, TSSK2, TTC28, TTC38, TTLL1, TTLL12, TTLL8, TUBGCP6, TXNRD2, TYMP, UPB1, UPK3A, USP18, USP41, WBP2NL, XRCC6, YWHAH, ZBED4, ZNF280A, ZNF280B, ZNRF3,

+ Genes associated with diseases 61

Genes at Omim

A4GALT, ACO2, ACR, ALG12, APOL1, APOL2, APOL4, ARSA, BCR, CHCHD10, CHKB, COMT, CRYBA4, CRYBB3, CSF2RB, CYP2D6, DEPDC5, DGCR2, DNAL4, EP300, FBLN1, FBXO7, GGT1, GGT2, GP1BB, HPS4, IL17RA, KCTD17, KREMEN1, LARGE, LZTR1, MKL1, MN1, MORC2, MYH9, MYO18B, NAGA, NCF4, NDUFA6, NEFH, PI4KA, PLA2G6, PRODH, RTN4R, SBF1, SCARF2, SCO2, SMARCB1, SNAP29, SOX10, SPECC1L, TCN2, TIMP3, TMPRSS6, TRIOBP, TRMU, TUBGCP6, TXNRD2, TYMP, UPB1, USP18,

A4GALT	NOR polyagglutination syndrome, 111400 (3) [Blood group, P1Pk system, P(2) phenotype], 111400 (3) [Blood group, P1Pk system, p phenotype], 111400 (3)
ACO2	Infantile cerebellar-retinal degeneration, 614559 (3) ?Optic atrophy 9, 616289 (3)
ACR	?Male infertility due to acrosin deficiency (2)
ALG12	Congenital disorder of glycosylation, type Ig, 607143 (3)
APOL1	{Glomerulosclerosis, focal segmental, 4, susceptibility to}, 612551 (3) {End-stage renal disease, nondiabetic, susceptibility to}, 612551 (3)
APOL2	{Schizophrenia}, 181500 (1)
APOL4	{Schizophrenia}, 181500 (1)
ARSA	Metachromatic leukodystrophy, 250100 (3)
BCR	Leukemia, acute lymphocytic, somatic, 613065 (3) Leukemia, chronic myeloid, somatic, 608232 (3)
CHCHD10	Frontotemporal dementia and/or amyotrophic lateral sclerosis 2, 615911 (3) ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 (3) Spinal muscular atrophy, Jokela type, 615048 (3)
CHKB	Muscular dystrophy, congenital, megaconial type, 602541 (3)
COMT	{Panic disorder, susceptibility to}, 167870 (3) {Schizophrenia, susceptibility to}, 181500 (3)
CRYBA4	Cataract 23, 610425 (3)
CRYBB3	Cataract 22, 609741 (3)
CSF2RB	Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)
CYP2D6	{Codeine sensitivity}, 608902 (3) {Debrisoquine sensitivity}, 608902 (3)
DEPDC5	Epilepsy, familial focal, with variable foci 1, 604364 (3)
DGCR2	DiGeorge syndrome/velocardiofacial syndrome complex-2 (2)
DNAL4	?Mirror movements 3, 616059 (3)
EP300	Colorectal cancer, somatic, 114500 (3) Menke-Hennekam syndrome 2, 618333 (3) Rubinstein-Taybi syndrome 2, 613684 (3)
FBLN1	Synpolydactyly, 3/3'4, associated with metacarpal and metatarsal synostoses, 608180 (4)
FBXO7	Parkinson disease 15, autosomal recessive, 260300 (3)
GGT1	?Glutathioninuria, 231950 (3)
GGT2	[Gamma-glutamyltransferase, familial high serum] (2)
GP1BB	Giant platelet disorder, isolated, 231200 (3) Bernard-Soulier syndrome, type B, 231200 (3)
HPS4	Hermansky-Pudlak syndrome 4, 614073 (3)
IL17RA	Immunodeficiency 51, 613953 (3)
KCTD17	Dystonia 26, myoclonic, 616398 (3)
KREMEN1	Ectodermal dysplasia 13, hair/tooth type, 617392 (3)
LARGE	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3) Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, 608840 (3)
LZTR1	{Schwannomatosis-2, susceptibility to}, 615670 (3) Noonan syndrome 10, 616564 (3) Noonan syndrome 2, 605275 (3)
MKL1	Megakaryoblastic leukemia, acute (3)
MN1	Meningioma, 607174 (3)
MORC2	Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 (3)
MYH9	Deafness, autosomal dominant 17, 603622 (3) Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, 155100 (3)
MYO18B	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism, 616549 (3)
NAGA	Kanzaki disease, 609242 (3) Schindler disease, type I, 609241 (3) Schindler disease, type III, 609241 (3)
NCF4	?Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III, 613960 (3)
NDUFA6	Mitochondrial complex I deficiency, nuclear type 33, 618253 (3)
NEFH	Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3) ?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
PI4KA	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3)
PLA2G6	Infantile neuroaxonal dystrophy 1, 256600 (3) Neurodegeneration with brain iron accumulation 2B, 610217 (3) Parkinson disease 14, autosomal recessive, 612953 (3)
PRODH	Hyperprolinemia, type I, 239500 (3) {Schizophrenia, susceptibility to, 4}, 600850 (3)
RTN4R	{Schizophrenia, susceptibility to}, 181500 (3)
SBF1	Charcot-Marie-Tooth disease, type 4B3, 615284 (3)
SCARF2	Van den Ende-Gupta syndrome, 600920 (3)
SCO2	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3) Myopia 6, 608908 (3)
SMARCB1	Coffin-Siris syndrome 3, 614608 (3) {Rhabdoid tumor predisposition syndrome 1}, 609322 (3) {Schwannomatosis-1, susceptibility to}, 162091 (3) Rhabdoid tumors, somatic, 609322 (3)
SNAP29	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)
SOX10	PCWH syndrome, 609136 (3) Waardenburg syndrome, type 2E, with or without neurologic involvement, 611584 (3) Waardenburg syndrome, type 4C, 613266 (3)
SPECC1L	Hypertelorism, Teebi type, 145420 (3) ?Facial clefting, oblique, 1, 600251 (3) Opitz GBBB syndrome, type II, 145410 (3)
TCN2	Transcobalamin II deficiency, 275350 (3)
TIMP3	Sorsby fundus dystrophy, 136900 (3)
TMPRSS6	Iron-refractory iron deficiency anemia, 206200 (3)
TRIOBP	Deafness, autosomal recessive 28, 609823 (3)
TRMU	Liver failure, transient infantile, 613070 (3) {Deafness, mitochondrial, modifier of}, 580000 (3)
TUBGCP6	Microcephaly and chorioretinopathy, autosomal recessive, 1, 251270 (3)
TXNRD2	?Glucocorticoid deficiency 5, 617825 (3)
TYMP	Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)
UPB1	Beta-ureidopropionase deficiency, 613161 (3)
USP18	Pseudo-TORCH syndrome 2, 617397 (3)

Genes at Clinical Genomics Database

A4GALT, ACO2, ALG12, ARSA, BCR, CECR1, CHCHD10, CHKB, COMT, CRYBA4, CRYBB3, CSF2RB, CYP2D6, DEPDC5, DGCR2, DNAL4, EP300, FBLN1, FBXO7, GP1BB, HPS4, IL17RA, KCTD17, LARGE, LZTR1, MN1, MORC2, MYH9, MYO18B, NAGA, NCF4, NEFH, PI4KA, PLA2G6, PRODH, SBF1, SCARF2, SCO2, SMARCB1, SNAP29, SOX10, SPECC1L, TCN2, TIMP3, TMPRSS6, TRIOBP, TRMU, TUBGCP6, TYMP, UPB1, UPK3A,

A4GALT	Blood group, P system
ACO2	Infantile cerebellar-retinal degeneration Optic atrophy 9
ALG12	Congenital disorder of glycosylation, type Ig
ARSA	Metachromatic leukodystrophy
BCR	CML treatment, response to
CECR1	Polyarteritis nodosa, childhood-onset (ADA2 deficiency) Sneddon syndrome
CHCHD10	Myopathy, isolated mitochondrial, autosomal dominant
CHKB	Muscular dystrophy, congenital, megaconial type
COMT	Medication response, association with
CRYBA4	Cataract 23
CRYBB3	Cataract, congenital nuclear, autosomal recessive, 2
CSF2RB	Surfactant metabolism dysfunction, pulmonary, 5
CYP2D6	Drug metabolism, CYP2CD6-related
DEPDC5	Epilepsy, familial focal, with variable foci
DGCR2	Schizophrenia
DNAL4	Mirror movements 3
EP300	Rubinstein-Taybi syndrome 2
FBLN1	Synpolydactyly 2
FBXO7	Parkinson disease 15, autosomal recessive
GP1BB	Bernard-Soulier syndrome Giant platelet disorder, isolated
HPS4	Hermansky-Pudlak syndrome 4
IL17RA	Candiasis, familial, 5
KCTD17	Dystonia 26, myoclonic
LARGE	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6
LZTR1	Schwannomatosis 2 Noonan syndrome 10
MN1	Meningioma, familial
MORC2	Charcot-Marie-Tooth disease type, axonal, type 2Z
MYH9	Sebastian syndrome May-Hegglin anomaly Fechtner syndrome Epstein syndrome Macrothrombocytopenia and progressive sensorineural deafness
MYO18B	Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism
NAGA	Kanzaki disease Alpha-n-acetylgalactosaminidase deficiency Schindler disease type I Schindler disease type III
NCF4	Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III
NEFH	Charcot-Marie-Tooth disease, axonal, type 2CC
PI4KA	Perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis
PLA2G6	Parkinson disease 14, autosomal recessive Neurodegeneration with brain iron accumulation 2A Neurodegeneration with brain iron accumulation 2B
PRODH	Hyperprolinemia, type I
SBF1	Charcot-Marie-Tooth disease, type 4B3
SCARF2	Van den Ende-Gupta syndrome
SCO2	Myopia 6 Leigh syndrome Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 Hypertrophic cardiomyopathy
SMARCB1	Schwannomatosis Rhabdoid tumor predisposition syndrome
SNAP29	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (CEDNIK syndrome)
SOX10	Waardenburg syndrome, type 4C Waardenburg syndrome, type 2E Peripheral demyelinating neuropathy, central dysmyelination, Waardenburg syndrome, and Hirschsprung disease Hirschsprung disease, susceptibility to, 10
SPECC1L	Facial clefting, oblique, 1 Opitz GBBB syndrome, type II
TCN2	Transcobalamin II deficiency
TIMP3	Sorsby fundus dystrophy
TMPRSS6	Iron-refractory iron deficiency anemia
TRIOBP	Deafness, autosomal recessive 28
TRMU	Liver failure, infantile, transient Reversible infantile respiratory chain deficiency
TUBGCP6	Microcephaly and chorioretinopathy, autosomal recessive 1
TYMP	Mitochondrial DNA depletion syndrome 1 (MNGIE type)
UPB1	Beta-ureidopropionase deficiency
UPK3A	Renal/urogenital adysplasia

Genes at HGMD

Summary

Number of Variants: 1438
Number of Genes: 299

Export to: CSV

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A4GALT
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	oje115-001 vqsr all	22	rs11541159 dbSNP Clinvar	43089849	217076.94	T	C	PASS	0/1	326	NON_SYNONYMOUS_CODING	MODERATE	None	0.35064	0.35060	0.40440	0.26	0.00		None None	None None None None	A4GALT\|0.02220674\|73.08%
	View	oje115-001 vqsr all	22	rs9623659 dbSNP Clinvar	43088971	28662.45	C	T	PASS	0/1	136	SYNONYMOUS_CODING	LOW	None	0.34904	0.34900	0.40420				None None	None None None None	A4GALT\|0.02220674\|73.08%
	View	oje115-001 vqsr all	22	rs6002904 dbSNP Clinvar	43089055	22345.16	G	C	PASS	1/1	127	SYNONYMOUS_CODING	LOW	None	0.69529	0.69530	0.34674				None None	None None None None	A4GALT\|0.02220674\|73.08%
AC002472.13
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	oje115-001 vqsr all	22	rs28450680 dbSNP Clinvar	21403376	164.77	C	T	ABlow	0/1	35	SYNONYMOUS_CODING	LOW	None	0.18311	0.18310					None None	None None None None	None
	View	oje115-001 vqsr all	22	rs28504593 dbSNP Clinvar	21403375	164.77	C	A	ABlow	0/1	36	NON_SYNONYMOUS_CODING	MODERATE	None	0.18311	0.18310		0.00	1.00		None None	None None None None	None
	View	oje115-001 vqsr all	22	rs201821840 dbSNP Clinvar	21403360	60.77	C	T	ABlow	0/1	41	NON_SYNONYMOUS_CODING	MODERATE	None				0.07	0.80		None None	None None None None	None
AC006547.14
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	oje115-001 vqsr all	22	rs139050179 dbSNP Clinvar	20137723	909.77	C	T	PASS	0/1	56	SYNONYMOUS_CODING	LOW	None	0.22963	0.22960					None None	None None None None	None
	View	oje115-001 vqsr all	22	rs73391926 dbSNP Clinvar	20138105	110.77	T	C	PASS	0/1	11	SYNONYMOUS_CODING	LOW	None	0.46985	0.46980					None None	None None None None	None
AC006946.15
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	oje115-001 vqsr all	22	rs5992629 dbSNP Clinvar	17602839	14159.74	G	A	PASS	1/1	75	SYNONYMOUS_CODING	LOW	None	0.87820	0.87820					None None	None None None None	None
	View	oje115-001 vqsr all	22	rs5748871 dbSNP Clinvar	17603477	887.77	A	G	PASS	1/1	31	None	None	None	0.44828	0.44830			0.00		None None	None None None None	None
AC008132.1
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	oje115-001 vqsr all	22	.	18734143	120.77	G	A	ABlow	0/1	58	NON_SYNONYMOUS_CODING	MODERATE	None				0.17	0.12		None None	None None None None	None
	View	oje115-001 vqsr all	22	rs752505843 dbSNP Clinvar	18727078	935.77	T	C	PASS	0/1	72	NON_SYNONYMOUS_CODING	MODERATE	None				0.41	0.00		None None	None None None None	None
AC008132.13
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	oje115-001 vqsr all	22	rs199679028 dbSNP Clinvar	18835139	1919.73	G	A	DPhigh;ABlow	0/1	136	NON_SYNONYMOUS_CODING	MODERATE	None	0.07328	0.07328		0.10	0.01		None None	None None None None	None
	View	oje115-001 vqsr all	22	rs200753959 dbSNP Clinvar	18835298	17523.57	T	C	DPhigh;ABlow	0/1	282	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.00		None None	None None None None	None
	View	oje115-001 vqsr all	22	rs62231277 dbSNP Clinvar	18835365	4395.95	T	G	PASS	1/1	32	SYNONYMOUS_CODING	LOW	None	0.77496	0.77500					None None	None None None None	None
	View	oje115-001 vqsr all	22	rs16987804 dbSNP Clinvar	18835403	958.08	A	G	FShigh	1/1	16	NON_SYNONYMOUS_CODING	MODERATE	None				1.00	0.00		None None	None None None None	None
	View	oje115-001 vqsr all	22	.	18834491	70.77	T	A	ABlow	0/1	25	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.26		None None	None None None None	None
	View	oje115-001 vqsr all	22	.	18834492	70.77	C	A	ABlow	0/1	27	SYNONYMOUS_CODING	LOW	None							None None	None None None None	None
	View	oje115-001 vqsr all	22	rs62231276 dbSNP Clinvar	18835221	219405.55	A	G	DPhigh;FShigh	1/1	169	SYNONYMOUS_CODING	LOW	None	0.89397	0.89400					None None	None None None None	None
ACO2
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	oje115-001 vqsr all	22	rs1799932 dbSNP Clinvar	41911525	191.77	C	T	PASS	0/1	16	SYNONYMOUS_CODING	LOW	None	0.27037	0.27040	0.38375				None None	None None None None	ACO2\|0.657906877\|9.8%
ACR
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	oje115-001 vqsr all	22	rs5771002 dbSNP Clinvar	51183255	874.77	A	G	PASS	1/1	28	NON_SYNONYMOUS_CODING	MODERATE	None	0.72584	0.72580		0.57	0.02		None None	None None None None	ACR\|0.009551139\|81.19%
ADM2
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	oje115-001 vqsr all	22	rs13056677 dbSNP Clinvar	50921644	1185.77	G	A	PASS	0/1	90	NON_SYNONYMOUS_CODING	MODERATE	None	0.02895	0.02895		0.00	0.97		None None	None None None None	ADM2\|0.006259599\|84.34%
	View	oje115-001 vqsr all	22	rs72438078,rs3840963 dbSNP Clinvar	50921148	584.73	AA...	A	PASS	0/1	32	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.11761	0.11760	0.07880				None None	None None None None	ADM2\|0.006259599\|84.34%
ADORA2A
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	oje115-001 vqsr all	22	rs141377465 dbSNP Clinvar	24836998	1836.77	C	T	PASS	0/1	127	SYNONYMOUS_CODING	LOW	None	0.00020	0.00020	0.00062				None None	None None None None	ADORA2A\|0.246666916\|31.87%
ADRBK2
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	oje115-001 vqsr all	22	rs145971750 dbSNP Clinvar	26083608	984.77	C	A	PASS	0/1	99	SYNONYMOUS_CODING	LOW	None	0.00379	0.00379	0.00346				None None	None None None None	ADRBK2\|0.084212284\|54.36%
AIFM3
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	oje115-001 vqsr all	22	rs7285694 dbSNP Clinvar	21330787	118993.57	C	T	PASS	0/1	213	SYNONYMOUS_CODING	LOW	None	0.19129	0.19130	0.27172				None None	None None None None	AIFM3\|0.183569407\|38.59%
	View	oje115-001 vqsr all	22	rs178269 dbSNP Clinvar	21331043	1352.77	A	T	PASS	1/1	46	SYNONYMOUS_CODING	LOW	None	1.00000	1.00000					None None	None None None None	AIFM3\|0.183569407\|38.59%
	View	oje115-001 vqsr all	22	rs61356271 dbSNP Clinvar	21333605	13380.54	G	C	PASS	0/1	166	NON_SYNONYMOUS_CODING	MODERATE	None	0.05391	0.05391	0.04493	0.46	0.02		None None	None None None None	AIFM3\|0.183569407\|38.59%
ALG12
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	oje115-001 vqsr all	22	rs8135963 dbSNP Clinvar	50301476	161615.35	T	C	PASS	0/1	286	SYNONYMOUS_CODING	LOW	None	0.40216	0.40220	0.38336				None None	None None None None	ALG12\|0.005312033\|85.41%
	View	oje115-001 vqsr all	22	rs1321 dbSNP Clinvar	50297435	2817.96	T	C	PASS	0/1	81	None	None	None	0.40216	0.40220	0.38093		0.00		None None	None None None None	ALG12\|0.005312033\|85.41%
AP000350.4
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	oje115-001 vqsr all	22	rs2070767 dbSNP Clinvar	24237463	359859.03	T	C	PASS	1/1	188	NON_SYNONYMOUS_CODING	MODERATE	None	0.77197	0.77200			0.00		None None	None None None None	None
	View	oje115-001 vqsr all	22	rs34383331 dbSNP Clinvar	24238079	465.77	T	A	PASS	0/1	53	NON_SYNONYMOUS_CODING	MODERATE	None	0.18291	0.18290			0.00		None None	None None None None	None
AP1B1
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	oje115-001 vqsr all	22	rs2857465 dbSNP Clinvar	29727886	571.77	T	C	PASS	1/1	15	NON_SYNONYMOUS_CODING	MODERATE	None	0.99980	0.99980	0.00008	1.00	0.00		None None	None None None None	AP1B1\|0.336808042\|25.03%
	View	oje115-001 vqsr all	22	rs2072051 dbSNP Clinvar	29755888	53483.45	T	C	PASS	0/1	116	SYNONYMOUS_CODING	LOW	None	0.66893	0.66890	0.35760				None None	None None None None	AP1B1\|0.336808042\|25.03%
APOBEC3A
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	oje115-001 vqsr all	22	rs35994173 dbSNP Clinvar	39357581	62199.79	C	T	PASS	0/1	234	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None	0.24581	0.24580	0.20635				None None	None None None None	APOBEC3A\|0.000261531\|99.57%
APOBEC3B
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	oje115-001 vqsr all	22	rs5757414 dbSNP Clinvar	39388216	217.77	T	G	PASS	0/1	7	NON_SYNONYMOUS_CODING	MODERATE	None	0.23223	0.23220		0.55	0.00		None None	None None None None	APOBEC3B\|0.000325736\|99.32%
	View	oje115-001 vqsr all	22	rs5757413 dbSNP Clinvar	39388207	407.77	G	A	PASS	0/1	14	NON_SYNONYMOUS_CODING	MODERATE	None	0.23203	0.23200		0.50	0.00		None None	None None None None	APOBEC3B\|0.000325736\|99.32%
	View	oje115-001 vqsr all	22	rs1065184 dbSNP Clinvar	39387558	177417.81	C	T	PASS	1/1	171	SYNONYMOUS_CODING	LOW	None			0.48365				None None	None None None None	APOBEC3B\|0.000325736\|99.32%
	View	oje115-001 vqsr all	22	rs2076111 dbSNP Clinvar	39381999	4695.67	T	C	PASS	1/1	45	SYNONYMOUS_CODING	LOW	None							None None	None None None None	APOBEC3B\|0.000325736\|99.32%
	View	oje115-001 vqsr all	22	rs5995649 dbSNP Clinvar	39382079	1391.77	C	A	PASS	1/1	36	NON_SYNONYMOUS_CODING	MODERATE	None	0.94968	0.94970	0.04888	1.00	0.00		None None	None None None None	APOBEC3B\|0.000325736\|99.32%
	View	oje115-001 vqsr all	22	rs2076109 dbSNP Clinvar	39381826	1208.77	A	G	PASS	1/1	30	NON_SYNONYMOUS_CODING	MODERATE	None	0.64117	0.64120	0.39427	0.77	0.00		None None	None None None None	APOBEC3B\|0.000325736\|99.32%
APOBEC3F
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	oje115-001 vqsr all	22	rs2020390 dbSNP Clinvar	39441096	12751.24	G	T	DPhigh;ABlow	0/1	169	NON_SYNONYMOUS_CODING	MODERATE	None	0.53375	0.53370		0.15	1.00		None None	None None None None	APOBEC3F\|0.000410636\|98.87%,APOBEC3G\|0.000537592\|98.25%
	View	oje115-001 vqsr all	22	rs5750728 dbSNP Clinvar	39440149	7663.54	C	T	PASS	0/1	111	None	None	None	0.50000	0.50000	0.43758	0.44	0.01		None None	None None None None	APOBEC3F\|0.000410636\|98.87%,APOBEC3G\|0.000537592\|98.25%
	View	oje115-001 vqsr all	22	rs4821862 dbSNP Clinvar	39441203	382.77	C	T	PASS	0/1	28	SYNONYMOUS_CODING	LOW	None	0.59345	0.59350	0.46363				None None	None None None None	APOBEC3F\|0.000410636\|98.87%,APOBEC3G\|0.000537592\|98.25%
	View	oje115-001 vqsr all	22	rs2076101 dbSNP Clinvar	39445554	91363.99	G	A	PASS	0/1	124	NON_SYNONYMOUS_CODING	MODERATE	None	0.49541	0.49540	0.43426	0.16	0.90		None None	None None None None	APOBEC3F\|0.000410636\|98.87%,APOBEC3G\|0.000537592\|98.25%
APOBEC3G
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	oje115-001 vqsr all	22	rs5757465 dbSNP Clinvar	39477123	112107.66	T	C	PASS	0/1	278	SYNONYMOUS_CODING	LOW	None	0.28455	0.28450	0.31755				None None	None None None None	APOBEC3G\|0.000537592\|98.25%
APOBEC3H
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	oje115-001 vqsr all	22	rs139300 dbSNP Clinvar	39497509	951.77	A	G	PASS	1/1	24	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	1.00000	1.00000		1.00	0.00		None None	None None None None	APOBEC3H\|0.000715686\|97.18%
	View	oje115-001 vqsr all	22	rs139302 dbSNP Clinvar	39498038	8102.27	G	C	PASS	1/1	70	NON_SYNONYMOUS_CODING	MODERATE	None	0.51558	0.51560	0.42911	0.23	0.01		None None	None None None None	APOBEC3H\|0.000715686\|97.18%
	View	oje115-001 vqsr all	22	rs139299 dbSNP Clinvar	39497454	35106.08	G	C	PASS	1/1	98	NON_SYNONYMOUS_CODING	MODERATE	None	0.52975	0.52980	0.42365	0.04	0.40		None None	None None None None	APOBEC3H\|0.000715686\|97.18%
	View	oje115-001 vqsr all	22	rs140936762,rs201177427,rs139292 dbSNP Clinvar	39496322	38905.08	TAAC	T	PASS	1/1	102	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.31749	0.31750	0.32481				None None	None None None None	APOBEC3H\|0.000715686\|97.18%
	View	oje115-001 vqsr all	22	rs139293 dbSNP Clinvar	39496336	27156.35	G	T	PASS	1/1	135	NON_SYNONYMOUS_CODING	MODERATE	None	0.20168	0.20170	0.20898	0.02	0.49		None None	None None None None	APOBEC3H\|0.000715686\|97.18%
	View	oje115-001 vqsr all	22	rs139294 dbSNP Clinvar	39496412	41697.46	G	C	PASS	1/1	108	SYNONYMOUS_CODING	LOW	None	0.51478	0.51480	0.43995				None None	None None None None	APOBEC3H\|0.000715686\|97.18%
	View	oje115-001 vqsr all	22	rs139297 dbSNP Clinvar	39497404	134290.24	G	C	PASS	1/1	289	NON_SYNONYMOUS_CODING	MODERATE	None	0.52476	0.52480	0.42050	1.00	0.00		None None	None None None None	APOBEC3H\|0.000715686\|97.18%
	View	oje115-001 vqsr all	22	rs139298 dbSNP Clinvar	39497452	38557.45	A	G	PASS	1/1	108	NON_SYNONYMOUS_CODING	MODERATE	None	0.52975	0.52980	0.42496	1.00	0.01		None None	None None None None	APOBEC3H\|0.000715686\|97.18%
APOL1
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	oje115-001 vqsr all	22	rs136177 dbSNP Clinvar	36661842	78815.39	G	A	PASS	0/1	135	SYNONYMOUS_CODING	LOW	None	0.85324	0.85320	0.16023				None None	None None None None	APOL1\|0.000329557\|99.31%
	View	oje115-001 vqsr all	22	rs136176 dbSNP Clinvar	36661646	280.77	G	A	PASS	0/1	14	NON_SYNONYMOUS_CODING	MODERATE	None	0.86262	0.86260	0.15101	1.00	0.00		None None	None None None None	APOL1\|0.000329557\|99.31%
	View	oje115-001 vqsr all	22	rs136175 dbSNP Clinvar	36661566	523.77	G	A	PASS	0/1	24	NON_SYNONYMOUS_CODING	MODERATE	None	0.86422	0.86420	0.15308	0.04	0.00		None None	None None None None	APOL1\|0.000329557\|99.31%
	View	oje115-001 vqsr all	22	rs136174 dbSNP Clinvar	36661536	889.77	C	A	PASS	0/1	57	SYNONYMOUS_CODING	LOW	None	0.86422	0.86420	0.15324				None None	None None None None	APOL1\|0.000329557\|99.31%
	View	oje115-001 vqsr all	22	rs60910145 dbSNP Clinvar	36662034	624.77	T	G	PASS	0/1	32	NON_SYNONYMOUS_CODING	MODERATE	None	0.06949	0.06949	0.07559	0.18	0.16		None None	None None None None	APOL1\|0.000329557\|99.31%
	View	oje115-001 vqsr all	22	rs73885319 dbSNP Clinvar	36661906	1412.77	A	G	PASS	0/1	101	NON_SYNONYMOUS_CODING	MODERATE	None	0.06969	0.06969	0.07666	1.00	0.00		None None	None None None None	APOL1\|0.000329557\|99.31%
APOL2
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	oje115-001 vqsr all	22	rs7285167 dbSNP Clinvar	36623920	1335.77	G	A	PASS	0/1	67	NON_SYNONYMOUS_CODING	MODERATE	None	0.15116	0.15120	0.14476	0.09	0.01		None None	None None None None	APOL2\|0.000262519\|99.56%
	View	oje115-001 vqsr all	22	rs132760 dbSNP Clinvar	36623731	71283.73	T	C	PASS	1/1	120	NON_SYNONYMOUS_CODING	MODERATE	None	1.00000	1.00000		0.66	0.00		None None	None None None None	APOL2\|0.000262519\|99.56%
APOL3
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	oje115-001 vqsr all	22	rs132618 dbSNP Clinvar	36537500	183151.4	A	T	PASS	0/1	175	SYNONYMOUS_CODING	LOW	None	0.36262	0.36260	0.36506				None None	None None None None	APOL3\|0.000202491\|99.75%
	View	oje115-001 vqsr all	22	rs132653 dbSNP Clinvar	36556823	558560.84	G	T	PASS	0/1	302	NON_SYNONYMOUS_CODING	MODERATE	None	0.78474	0.78470	0.28410		0.31		None None	None None None None	APOL3\|0.000202491\|99.75%
	View	oje115-001 vqsr all	22	rs11089781 dbSNP Clinvar	36556768	16724.54	G	A	PASS	0/1	215	STOP_GAINED	HIGH	None	0.06929	0.06929	0.07435				None None	None None None None	APOL3\|0.000202491\|99.75%
	View	oje115-001 vqsr all	22	rs132642 dbSNP Clinvar	36545137	344183.95	A	T	PASS	1/1	166	None	None	None	0.94169	0.94170	0.11710		0.00		None None	None None None None	APOL3\|0.000202491\|99.75%
	View	oje115-001 vqsr all	22	rs6000152 dbSNP Clinvar	36538053	1320.77	G	A	PASS	0/1	79	NON_SYNONYMOUS_CODING	MODERATE	None	0.02336	0.02336	0.02407	0.19	0.10		None None	None None None None	APOL3\|0.000202491\|99.75%
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	oje115-001 vqsr all	22	rs2227168 dbSNP Clinvar	36587511	295990.01	C	T	PASS	1/1	189	NON_SYNONYMOUS_CODING	MODERATE	None	0.65316	0.65320	0.44114	0.58	0.00		None None	None None None None	APOL4\|0.000586223\|97.99%
	View	oje115-001 vqsr all	22	rs6000174 dbSNP Clinvar	36587279	88669.74	A	G	PASS	1/1	126	SYNONYMOUS_CODING	LOW	None	0.64697	0.64700	0.44084				None None	None None None None	APOL4\|0.000586223\|97.99%
	View	oje115-001 vqsr all	22	rs5845253,rs3075364 dbSNP Clinvar	36587845	290071.09	A	ACT	PASS	1/1	149	None	None	None	0.67572	0.67570	0.40732				None None	None None None None	APOL4\|0.000586223\|97.99%
	View	oje115-001 vqsr all	22	rs2227167 dbSNP Clinvar	36587486	397395.75	A	G	PASS	1/1	307	SYNONYMOUS_CODING	LOW	None	0.64736	0.64740	0.44397				None None	None None None None	APOL4\|0.000586223\|97.99%
	View	oje115-001 vqsr all	22	rs6000172 dbSNP Clinvar	36587202	35572.42	G	A	PASS	1/1	140	NON_SYNONYMOUS_CODING	MODERATE	None	0.64697	0.64700	0.44227	0.00	0.02		None None	None None None None	APOL4\|0.000586223\|97.99%
	View	oje115-001 vqsr all	22	rs132736 dbSNP Clinvar	36598058	106531.55	T	C	PASS	1/1	137	NON_SYNONYMOUS_CODING	MODERATE	None	0.62121	0.62120	0.47593	1.00	0.00		None None	None None None None	APOL4\|0.000586223\|97.99%
	View	oje115-001 vqsr all	22	rs80587 dbSNP Clinvar	36598049	82170.75	C	G	PASS	1/1	105	NON_SYNONYMOUS_CODING	MODERATE	None	0.62101	0.62100	0.47578	1.00	0.00		None None	None None None None	APOL4\|0.000586223\|97.99%
	View	oje115-001 vqsr all	22	rs6000173 dbSNP Clinvar	36587223	81893.03	G	T	PASS	1/1	158	NON_SYNONYMOUS_CODING	MODERATE	None	0.64717	0.64720	0.44378	0.00	0.66		None None	None None None None	APOL4\|0.000586223\|97.99%
	View	oje115-001 vqsr all	22	rs2007468 dbSNP Clinvar	36591380	6981.73	A	G	PASS	1/1	94	SYNONYMOUS_CODING	LOW	None	0.70068	0.70070	0.38713				None None	None None None None	APOL4\|0.000586223\|97.99%
	View	oje115-001 vqsr all	22	rs2227169 dbSNP Clinvar	36587952	847.77	C	T	PASS	1/1	22	SYNONYMOUS_CODING	LOW	None	0.64257	0.64260	0.44647				None None	None None None None	APOL4\|0.000586223\|97.99%
APOL5
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	oje115-001 vqsr all	22	rs2076673 dbSNP Clinvar	36124860	12005.21	C	G	PASS	1/1	58	NON_SYNONYMOUS_CODING	MODERATE	None	0.36202	0.36200	0.28095	0.00	0.70		None None	None None None None	APOL5\|0.000570206\|98.07%
	View	oje115-001 vqsr all	22	rs2076671 dbSNP Clinvar	36122930	99155.49	C	T	PASS	1/1	139	NON_SYNONYMOUS_CODING	MODERATE	None	0.38638	0.38640	0.31316	0.02	0.01		None None	None None None None	APOL5\|0.000570206\|98.07%
ARFGAP3
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	oje115-001 vqsr all	22	rs1128013 dbSNP Clinvar	43195147	2506.77	A	G	PASS	1/1	65	SYNONYMOUS_CODING	LOW	None	0.37740	0.37740	0.49377				None None	None None None None	ARFGAP3\|0.023747491\|72.32%
	View	oje115-001 vqsr all	22	rs738535 dbSNP Clinvar	43203137	3730.71	C	T	PASS	1/1	87	SYNONYMOUS_CODING	LOW	None	0.31010	0.31010	0.41727				None None	None None None None	ARFGAP3\|0.023747491\|72.32%
	View	oje115-001 vqsr all	22	rs1018448 dbSNP Clinvar	43206950	2768.77	A	C	PASS	1/1	70	NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION	MODERATE	None	0.70188	0.70190	0.34669	0.79	0.00		None None	None None None None	ARFGAP3\|0.023747491\|72.32%
ARHGAP8
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	oje115-001 vqsr all	22	rs2239813 dbSNP Clinvar	45198009	54366.97	A	G	PASS	1/1	163	SYNONYMOUS_CODING	LOW	None	0.63878	0.63880	0.45510				None None	None None None None	PRR5-ARHGAP8\|0.014398514\|77.56%,ARHGAP8\|0.011339423\|79.74%
	View	oje115-001 vqsr all	22	rs2269543 dbSNP Clinvar	45244930	25857.02	C	T	PASS	0/1	102	SYNONYMOUS_CODING	LOW	None	0.36721	0.36720	0.36007				None None	None None None None	PRR5-ARHGAP8\|0.014398514\|77.56%,ARHGAP8\|0.011339423\|79.74%
	View	oje115-001 vqsr all	22	rs111568032 dbSNP Clinvar	45204555	288.77	C	T	PASS	0/1	40	None	None	None	0.07149	0.07149					None None	None None None None	PRR5-ARHGAP8\|0.014398514\|77.56%,ARHGAP8\|0.011339423\|79.74%
	View	oje115-001 vqsr all	22	rs9626585 dbSNP Clinvar	45255628	2846.96	C	T	PASS	0/1	181	NON_SYNONYMOUS_CODING	MODERATE	None	0.01957	0.01957	0.02007	0.00	1.00		None None	None None None None	PRR5-ARHGAP8\|0.014398514\|77.56%,ARHGAP8\|0.011339423\|79.74%
	View	oje115-001 vqsr all	22	rs2071762 dbSNP Clinvar	45258324	19959.72	C	T	PASS	1/1	108	NON_SYNONYMOUS_CODING	MODERATE	None	0.22504	0.22500	0.14178	0.40	0.02		None None	None None None None	PRR5-ARHGAP8\|0.014398514\|77.56%,ARHGAP8\|0.011339423\|79.74%
ARSA
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	oje115-001 vqsr all	22	rs743616 dbSNP Clinvar	51064039	205256.25	G	C	PASS	0/1	249	NON_SYNONYMOUS_CODING	MODERATE	None	0.40555	0.40560	0.48408	0.42	0.00		None None	None None None None	ARSA\|0.046995067\|63.58%
ARVCF
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	oje115-001 vqsr all	22	rs33992092 dbSNP Clinvar	19969495	1511.77	G	T	PASS	0/1	145	SYNONYMOUS_CODING	LOW	None	0.02157	0.02157	0.02130				None None	None None None None	ARVCF\|0.083030294\|54.56%
	View	oje115-001 vqsr all	22	rs5993890 dbSNP Clinvar	19958829	544.77	G	A	PASS	0/1	26	SYNONYMOUS_CODING	LOW	None	0.08926	0.08926	0.07397				None None	None None None None	ARVCF\|0.083030294\|54.56%
	View	oje115-001 vqsr all	22	rs2240717 dbSNP Clinvar	19969106	1534.77	A	G	PASS	1/1	56	NON_SYNONYMOUS_CODING	MODERATE	None	0.41953	0.41950	0.40522	0.50	0.00		None None	None None None None	ARVCF\|0.083030294\|54.56%
	View	oje115-001 vqsr all	22	rs2073747 dbSNP Clinvar	19969075	1119.77	A	G	PASS	1/1	28	SYNONYMOUS_CODING	LOW	None	0.72145	0.72140	0.19203				None None	None None None None	ARVCF\|0.083030294\|54.56%
	View	oje115-001 vqsr all	22	rs2073748 dbSNP Clinvar	19968971	354.78	G	A	PASS	1/1	9	NON_SYNONYMOUS_CODING	MODERATE	None	0.36002	0.36000	0.34425	0.07	0.00		None None	None None None None	ARVCF\|0.083030294\|54.56%
	View	oje115-001 vqsr all	22	rs165815 dbSNP Clinvar	19959473	842.77	C	T	PASS	0/1	39	NON_SYNONYMOUS_CODING	MODERATE	None	0.61681	0.61680	0.26496	1.00	0.00		None None	None None None None	ARVCF\|0.083030294\|54.56%
ASCC2
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	oje115-001 vqsr all	22	rs10559800,rs146848976 dbSNP Clinvar	30234192	1305.73	TGCC	T	PASS	0/1	64	None	None	None							None None	None None None None	ASCC2\|0.130819121\|45.77%
	View	oje115-001 vqsr all	22	rs34833047 dbSNP Clinvar	30197031	2087.96	T	C	PASS	0/1	104	NON_SYNONYMOUS_CODING	MODERATE	None	0.00240	0.00240	0.00730	0.00	1.00		None None	None None None None	ASCC2\|0.130819121\|45.77%
ATF4
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	oje115-001 vqsr all	22	rs4894 dbSNP Clinvar	39917515	341.77	A	C	PASS	0/1	28	NON_SYNONYMOUS_CODING	MODERATE	None	0.27376	0.27380	0.30225	0.25	0.00		None None	None None None None	ATF4\|0.396217257\|21.01%
ATP5L2
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	oje115-001 vqsr all	22	rs6519327 dbSNP Clinvar	43036245	770.77	G	A	PASS	0/1	46	SYNONYMOUS_CODING	LOW	None	0.27276	0.27280	0.13820				None None	None None None None	CYB5R3\|0.035531313\|67.3%,ATP5L2\|0.004011842\|87.02%
BAIAP2L2
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	oje115-001 vqsr all	22	rs66500630,rs371997714 dbSNP Clinvar	38482352	683.73	GT...	G	PASS	1/1	16	CODON_CHANGE_PLUS_CODON_DELETION	MODERATE	None	0.14137	0.14140	0.10928				None None	None None None None	BAIAP2L2\|0.045525826\|64.05%
	View	oje115-001 vqsr all	22	rs4820313 dbSNP Clinvar	38506509	1668.77	A	G	PASS	1/1	47	SYNONYMOUS_CODING	LOW	None	1.00000	1.00000					None None	None None None None	BAIAP2L2\|0.045525826\|64.05%