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Genes:
AAGAB, ABHD17C, ACAN, ACSBG1, ADAL, ADAMTS17, ADAMTS7, ADAMTSL3, ADPGK, AEN, AGBL1, AKAP13, ALDH1A2, ALPK3, ANKDD1A, ANKRD34C, ANKRD63, ANPEP, ANXA2, AP4E1, AQP9, AQR, ARID3B, ARRDC4, ATP10A, ATP8B4, BAHD1, BBS4, BCL2A1, BCL2L10, BLM, BUB1B, C15ORF37, C15orf27, C15orf37, C15orf39, C15orf40, C15orf41, C15orf48, C15orf52, C15orf54, C15orf56, C15orf59, C15orf62, C2CD4B, CAPN3, CASC5, CDAN1, CERS3, CGNL1, CHAC1, CHD2, CHRNA3, CHRNA5, CHRNA7, CHRNB4, CHSY1, CIB2, CILP, CLK3, COPS2, CPEB1, CRABP1, CRTC3, CSK, CSNK1G1, CSPG4, CTD-2054N24.2, CTD-2116N17.1, CTSH, CTXN2, CYFIP1, CYP19A1, DAPK2, DENND4A, DIS3L, DKFZP779J2370, DMXL2, DNAJA4, DTWD1, DUOX1, DUOX2, DUOXA2, DYX1C1, EFTUD1, EHD4, EIF2AK4, ETFA, EXD1, FAM154B, FAM169B, FAM174B, FAM189A1, FAM214A, FAM81A, FAM96A, FAM98B, FANCI, FBN1, FEM1B, FES, FMN1, GABARAPL3, GABRA5, GABRG3, GALK2, GANC, GCOM1, GDPGP1, GJD2, GLCE, GOLGA6L2, GOLGA6L6, GOLGA8I, GOLGA8M, GOLGA8R, GOLGA8S, GPR176, HCN4, HDGFRP3, HERC1, HERC2, HEXA, IDH3A, IGDCC3, IGDCC4, IL16, IMP3, IQCH, IREB2, ISG20, ISL2, ISLR, ITGA11, JMJD7-PLA2G4B, KBTBD13, KIAA1024, KIAA1199, KIF23, KIF7, KLF13, KLHL25, LACTB, LARP6, LDHAL6B, LINGO1, LINS, LIPC, LMAN1L, LOXL1, LRRK1, LYSMD4, MAN2A2, MAN2C1, MAP1A, MAPK6, MAPKBP1, MCTP2, MEF2A, MEGF11, MESP1, MFGE8, MGA, MTFMT, MYEF2, MYO1E, MYO5A, MYO5C, MYO9A, NEDD4, NEO1, NIPA1, NIPA2, NOX5, NPAP1, NRG4, NTRK3, NUTM1, OCA2, OR4M2, OR4N4, OTUD7A, PARP16, PATL2, PCSK6, PDCD7, PDE8A, PDIA3, PEAK1, PEX11A, PGPEP1L, PIF1, PIGB, PLA2G4D, PLA2G4E, PLA2G4F, PLCB2, PLIN1, PML, POLG, PPCDC, PRC1, PSMA4, RAB8B, RASGRF1, RASGRP1, RASL12, RBPMS2, RCCD1, RFX7, RGMA, RNF111, RORA, RP11-133K1.2, RP11-247C2.2, RP11-625H11.1, RP11-89K11.1, RPAP1, RSL24D1, RTF1, RYR3, SCAMP5, SCAPER, SCG3, SECISBP2L, SEMA4B, SEMA6D, SEMA7A, SENP8, SH2D7, SHF, SKOR1, SLC12A1, SLC12A6, SLC24A1, SLC27A2, SLC28A1, SLC28A2, SLC30A4, SLCO3A1, SMAD3, SNAP23, SPESP1, SPG11, SPINT1, SPRED1, SPTBN5, SQRDL, SRP14, ST20, ST8SIA2, STARD9, STOML1, STRA6, SYNM, TARSL2, TBC1D21, TBC1D2B, TGM5, TGM7, THSD4, TICRR, TIPIN, TJP1, TLE3, TLN2, TM2D3, TMED3, TMEM87A, TP53BP1, TPM1, TRIM69, TRIP4, TRPM1, TRPM7, TSPAN3, TTBK2, TTC23, TYRO3, UACA, UBE2Q2, UBL7, UBR1, ULK3, UNC13C, USP8, VPS13C, VPS33B, VPS39, VWA9, WDR72, WDR73, WDR76, WDR93, ZFYVE19, ZNF280D, ZNF592, ZNF609, ZNF710, ZNF770, ZSCAN2, ZSCAN29, ZWILCH,

+ Genes associated with diseases 70

Genes at Omim

AAGAB, ACAN, ADAMTS17, AGBL1, ALPK3, AP4E1, BBS4, BUB1B, C15orf41, CAPN3, CDAN1, CERS3, CHD2, CHRNA3, CHRNA5, CHSY1, CIB2, CILP, CYP19A1, DMXL2, DUOX2, DUOXA2, EIF2AK4, ETFA, FANCI, FBN1, HCN4, HERC1, HERC2, HEXA, KBTBD13, KIF7, LINGO1, LIPC, LOXL1, MAPKBP1, MEF2A, MTFMT, MYO1E, MYO5A, MYO9A, NIPA1, OCA2, PATL2, PLCB2, PLIN1, PML, POLG, RORA, SCAPER, SEMA7A, SLC12A1, SLC12A6, SLC24A1, SMAD3, SPG11, SPRED1, STRA6, TGM5, TPM1, TRIP4, TRPM1, TRPM7, TTBK2, UBR1, USP8, VPS13C, VPS33B, WDR72, WDR73,

AAGAB	Keratoderma, palmoplantar, punctate type IA, 148600 (3)
ACAN	?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3) Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3) Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3)
ADAMTS17	Weill-Marchesani 4 syndrome, recessive, 613195 (3)
AGBL1	Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
ALPK3	Cardiomyopathy, familial hypertrophic 27, 618052 (3)
AP4E1	Spastic paraplegia 51, autosomal recessive, 613744 (3) Stuttering, familial persistent, 1, 184450 (3)
BBS4	Bardet-Biedl syndrome 4, 615982 (3)
BUB1B	Colorectal cancer, somatic, 114500 (3) Mosaic variegated aneuploidy syndrome 1, 257300 (3) [Premature chromatid separation trait], 176430 (3)
C15orf41	Dyserythropoietic anemia, congenital, type Ib, 615631 (3)
CAPN3	Muscular dystrophy, limb-girdle, autosomal dominant 4, 618129 (3) Muscular dystrophy, limb-girdle, autosomal recessive 1, 253600 (3)
CDAN1	Dyserythropoietic anemia, congenital, type Ia, 224120 (3)
CERS3	Ichthyosis, congenital, autosomal recessive 9, 615023 (3)
CHD2	Epileptic encephalopathy, childhood-onset, 615369 (3)
CHRNA3	{Lung cancer susceptibility 2}, 612052 (3)
CHRNA5	{Lung cancer susceptibility 2}, 612052 (3) {Nicotine dependence, susceptibility to}, 612052 (3)
CHSY1	Temtamy preaxial brachydactyly syndrome, 605282 (3)
CIB2	Deafness, autosomal recessive 48, 609439 (3) Usher syndrome, type IJ, 614869 (3)
CILP	{Lumbar disc disease, susceptibility to}, 603932 (3)
CYP19A1	Aromatase deficiency, 613546 (3) Aromatase excess syndrome, 139300 (3)
DMXL2	?Deafness, autosomal dominant 71, 617605 (3) ?Polyendocrine-polyneuropathy syndrome, 616113 (3)
DUOX2	Thyroid dyshormonogenesis 6, 607200 (3)
DUOXA2	Thyroid dyshormonogenesis 5, 274900 (3)
EIF2AK4	Pulmonary venoocclusive disease 2, 234810 (3)
ETFA	Glutaric acidemia IIA, 231680 (3)
FANCI	Fanconi anemia, complementation group I, 609053 (3)
FBN1	Geleophysic dysplasia 2, 614185 (3) Ectopia lentis, familial, 129600 (3) MASS syndrome, 604308 (3) Marfan lipodystrophy syndrome, 616914 (3) Marfan syndrome, 154700 (3) Acromicric dysplasia, 102370 (3) Stiff skin syndrome, 184900 (3) Weill-Marchesani syndrome 2, dominant, 608328 (3)
HCN4	Brugada syndrome 8, 613123 (3) Sick sinus syndrome 2, 163800 (3)
HERC1	Macrocephaly, dysmorphic facies, and psychomotor retardation, 617011 (3)
HERC2	Mental retardation, autosomal recessive 38, 615516 (3) [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3) [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
HEXA	GM2-gangliosidosis, several forms, 272800 (3) Tay-Sachs disease, 272800 (3) [Hex A pseudodeficiency], 272800 (3)
KBTBD13	Nemaline myopathy 6, autosomal dominant, 609273 (3)
KIF7	Acrocallosal syndrome, 200990 (3) Joubert syndrome 12, 200990 (3) ?Hydrolethalus syndrome 2, 614120 (3) ?Al-Gazali-Bakalinova syndrome, 607131 (3)
LINGO1	Mental retardation, autosomal recessive 64, 618103 (3)
LIPC	Hepatic lipase deficiency, 614025 (3) [High density lipoprotein cholesterol level QTL 12], 612797 (3) {Diabetes mellitus, noninsulin-dependent}, 125853 (3)
LOXL1	{Exfoliation syndrome, susceptibility to}, 177650 (3)
MAPKBP1	Nephronophthisis 20, 617271 (3)
MEF2A	{Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MTFMT	Combined oxidative phosphorylation deficiency 15, 614947 (3) Mitochondrial complex I deficiency, nuclear type 27, 618248 (3)
MYO1E	Glomerulosclerosis, focal segmental, 6, 614131 (3)
MYO5A	Griscelli syndrome, type 1, 214450 (3)
MYO9A	Myasthenic syndrome, congenital, 24, presynaptic, 618198 (3)
NIPA1	Spastic paraplegia 6, autosomal dominant, 600363 (3)
OCA2	Albinism, brown oculocutaneous, 203200 (3) Albinism, oculocutaneous, type II, 203200 (3) [Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3) [Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
PATL2	Oocyte maturation defect 4, 617743 (3)
PLCB2	Platelet PLC beta-2 deficiency (1)
PLIN1	Lipodystrophy, familial partial, type 4, 613877 (3)
PML	Leukemia, acute promyelocytic, PML/RARA type (3)
POLG	Mitochondrial DNA depletion syndrome 4A (Alpers type), 203700 (3) Mitochondrial DNA depletion syndrome 4B (MNGIE type), 613662 (3) Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), 607459 (3) Progressive external ophthalmoplegia, autosomal dominant 1, 157640 (3) Progressive external ophthalmoplegia, autosomal recessive 1, 258450 (3)
RORA	Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 (3)
SCAPER	Intellectual developmental disorder and retinitis pigmentosa, 618195 (3)
SEMA7A	[Blood group, John-Milton-Hagen system], 614745 (3)
SLC12A1	Bartter syndrome, type 1, 601678 (3)
SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)
SLC24A1	Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830 (3)
SMAD3	Loeys-Dietz syndrome 3, 613795 (3)
SPG11	Amyotrophic lateral sclerosis 5, juvenile, 602099 (3) Charcot-Marie-Tooth disease, axonal, type 2X, 616668 (3) Spastic paraplegia 11, autosomal recessive, 604360 (3)
SPRED1	Legius syndrome, 611431 (3)
STRA6	Microphthalmia, isolated, with coloboma 8, 601186 (3) Microphthalmia, syndromic 9, 601186 (3)
TGM5	Peeling skin syndrome 2, 609796 (3)
TPM1	Cardiomyopathy, dilated, 1Y, 611878 (3) Cardiomyopathy, hypertrophic, 3, 115196 (3) Left ventricular noncompaction 9, 611878 (3)
TRIP4	?Muscular dystrophy, congenital, Davignon-Chauveau type, 617066 (3) Spinal muscular atrophy with congenital bone fractures 1, 616866 (3)
TRPM1	Night blindness, congenital stationary (complete), 1C, autosomal recessive, 613216 (3)
TRPM7	{Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to}, 105500 (3)
TTBK2	Spinocerebellar ataxia 11, 604432 (3)
UBR1	Johanson-Blizzard syndrome, 243800 (3)
USP8	Pituitary adenoma 4, ACTH-secreting, somatic, 219090 (3)
VPS13C	Parkinson disease 23, autosomal recessive, early onset, 616840 (3)
VPS33B	Arthrogryposis, renal dysfunction, and cholestasis 1, 208085 (3)
WDR72	Amelogenesis imperfecta, type IIA3, 613211 (3)
WDR73	Galloway-Mowat syndrome 1, 251300 (3)

Genes at Clinical Genomics Database

AAGAB, ACAN, ADAMTS17, AGBL1, AP4E1, BBS4, BLM, BUB1B, CAPN3, CDAN1, CERS3, CHD2, CHSY1, CIB2, CYP19A1, DMXL2, DUOX2, DUOXA2, DYX1C1, EIF2AK4, ETFA, FANCI, FBN1, HCN4, HERC2, HEXA, KBTBD13, KIF7, LIPC, MTFMT, MYO1E, MYO5A, NIPA1, OCA2, PLIN1, POLG, SEMA7A, SLC12A1, SLC12A6, SLC24A1, SMAD3, SPG11, SPRED1, STRA6, TGM5, TPM1, TRIP4, TRPM1, TTBK2, UBR1, VPS13C, VPS39, WDR72, WDR73, ZNF592,

AAGAB	Keratoderma, palmoplantar, punctate type IA
ACAN	Spondyloepimetaphyseal dysplasia, aggrecan type Spondyloepiphyseal dysplasia, Kimberley type Osteochondritis dissecans, short stature, and early-onset osteoarthritis
ADAMTS17	Weill-Marchesani-like syndrome
AGBL1	Corneal dystrophy, Fuchs endothelial, 8
AP4E1	Stuttering, familial persistent, 1 Spastic paraplegia 51, autosomal recessive
BBS4	Bardet-Biedl syndrome 4
BLM	Bloom syndrome
BUB1B	Mosaic variegated aneuploidy syndrome Premature chromatid separation trait
CAPN3	Muscular dystrophy, limb-girdle, type 2A Eosinophilic myositis
CDAN1	Anemia, dyserythropoietic congenital, type Ia
CERS3	Ichthyosis, congenital, autosomal recessive 9
CHD2	Epileptic encephalopathy, childhood-onset
CHSY1	Temtamy preaxial brachydactyly syndrome
CIB2	Deafness, autosomal recessive 48 Usher syndrome type IJ
CYP19A1	Aromatase deficiency
DMXL2	Polyendocrine-polyneuropathy syndrome
DUOX2	Thyroid dyshormonogenesis 6
DUOXA2	Thyroid dyshormonogenesis 5
DYX1C1	Ciliary dyskinesia, primary 25
EIF2AK4	Pulmonary venoocclusive disease 2
ETFA	Multiple acyl-CoA dehydrogenase deficiency Glutaric aciduria II
FANCI	Fanconi anemia, complementation group I
FBN1	Marfan syndrome MASS syndrome Shprintzen-Goldberg syndrome Marfan lipodystrophy syndrome
HCN4	Brugada syndrome 8 Sick sinus syndrome 2
HERC2	Skin/hair/eye pigmentation 1 Mental retardation, autosomal recessive 38
HEXA	Tay-Sachs disease GM2-gangliosidosis Hexosaminidase A deficiency
KBTBD13	Nemaline myopathy 6
KIF7	Hydrolethalus syndrome 2 Acrocallosal syndrome Joubert syndrome 12 Al-Gazali-Bakalinova syndrome
LIPC	Hepatic lipase deficiency
MTFMT	Combined oxidative phosphorylation deficiency 15
MYO1E	Focal segmental glomerulosclerosis 6
MYO5A	Griscelli syndrome, type 1
NIPA1	Spastic paraplegia 6
OCA2	Albinism, oculocutaneous, type II Albinism, brown oculocutaneous Skin/hair/eye pigmentation 1
PLIN1	Lipodystrophy, familial partial, type 4
POLG	Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 Mitochondrial DNA depletion syndrome 4B Sensory ataxia, dysarthria, and ophthalmoparesis Mitochondrial DNA depletion syndrome 4A (Alpers type) Alpers syndrome POLG-related ataxia neuropathy spectrum disorders
SEMA7A	Blood group, John Milton Hagen
SLC12A1	Bartter syndrome, antenatal, type 1
SLC12A6	Agenesis of the corpus callosum with peripheral neuropathy (Andermann syndrome)
SLC24A1	Night blindness, congenital stationary, type 1D
SMAD3	Aneurysms-osteoarthritis syndrome Loeys-Dietz syndrome, type 3
SPG11	Amyotrophic lateral sclerosis 5, juvenile recessive Charcot-Marie-Tooth disease, axonal, type 2X Spastic paraplegia 11
SPRED1	Legius syndrome
STRA6	Microphthalmia, syndromic 9 Microphthalmia, isolated, with coloboma 8
TGM5	Peeling skin syndrome 2
TPM1	Cardiomyopathy, dilated, 1Y Cardiomyopathy, familial hypertrophic, 3
TRIP4	Spinal muscular atrophy with congenital bone fractures 1 (AR)
TRPM1	Night blindness, congenital stationary, type 1C
TTBK2	Spinocerebellar ataxia 11
UBR1	Johanson-Blizzard syndrome
VPS13C	Parkinson disease 23, autosomal recessive, early onset
VPS39	Schizophrenia
WDR72	Amelogenesis imperfecta, hypomaturation type, IIA3
WDR73	Galloway-Mowat syndrome
ZNF592	Spinocerebellar ataxia, autosomal recessive 5

Genes at HGMD

Summary

Number of Variants: 2823
Number of Genes: 303

Export to: CSV

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AAGAB
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	62388010_s7 mvar 62388010_S7.GATK	15	rs7173826 dbSNP Clinvar	67528374	1610.77	T	G	PASS	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.36342	0.36340	0.25390	0.48	0.02		None None	None None None None	AAGAB\|0.101167866\|50.94%
ABHD17C
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	62388010_s7 mvar 62388010_S7.GATK	15	rs62007944 dbSNP Clinvar	80987812	911.77	T	C	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.97744	0.97740	0.01825				None None	None None None None	ABHD17C\|0.053788984\|61.53%
ACAN
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	62388010_s7 mvar 62388010_S7.GATK	15	rs1568116 dbSNP Clinvar	89392745	3593.77	T	C	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.99561	0.99560	0.00990				None None	None None None None	ACAN\|0.017538305\|75.58%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs372041880 dbSNP Clinvar	89382027	1128.77	A	C	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.01597	0.01597	0.00008				None None	None None None None	ACAN\|0.017538305\|75.58%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs3743399 dbSNP Clinvar	89398330	1795.77	G	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.00040	0.75900	0.13242				None None	None None None None	ACAN\|0.017538305\|75.58%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs144501729 dbSNP Clinvar	89392689	1620.77	C	A	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.02696	0.02696		0.08	0.06		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs2882676 dbSNP Clinvar	89400339	2433.77	A	C	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.42412	0.42410	0.43105	0.19	0.24		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs757476544 dbSNP Clinvar	89392753	1238.77	C	G	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.99		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs200412974 dbSNP Clinvar	89392818	1881.77	G	A	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.02676	0.02676	0.00008	0.00	0.57		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs4932439 dbSNP Clinvar	89401109	2692.77	A	G	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.76038	0.76040	0.13224	1.00	0.01		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs938608 dbSNP Clinvar	89398605	3632.77	G	T	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.45268	0.45270	0.40313	0.01	0.84		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs79925540 dbSNP Clinvar	89400963	2657.77	G	T	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.02955	0.02955	0.00008	0.00	1.00		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs2272023 dbSNP Clinvar	89391160	2007.77	C	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.69429	0.69430	0.20369				None None	None None None None	ACAN\|0.017538305\|75.58%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs148070768 dbSNP Clinvar	89388894	2532.77	A	G	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.02676	0.02676	0.00008	0.16	0.00		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs1042630 dbSNP Clinvar	89402051	1594.77	A	G	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.64597	0.64600	0.26503	0.20	0.01		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs76282091 dbSNP Clinvar	89401616	2929.77	G	C	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.03035	0.03035		0.09	0.54		None None	None None None None	ACAN\|0.017538305\|75.58%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs1042631 dbSNP Clinvar	89402239	3221.77	T	C	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.73642	0.73640	0.18514				None None	None None None None	ACAN\|0.017538305\|75.58%
ACSBG1
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	62388010_s7 mvar 62388010_S7.GATK	15	rs17479031 dbSNP Clinvar	78471954	2717.77	G	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.08886	0.08886	0.06873				None None	None None None None	ACSBG1\|0.055446923\|61.08%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs17850484 dbSNP Clinvar	78471110	1337.77	G	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.08866	0.08866	0.06850				None None	None None None None	ACSBG1\|0.055446923\|61.08%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs17850483 dbSNP Clinvar	78466781	2153.77	G	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.09085	0.09085	0.06164				None None	None None None None	ACSBG1\|0.055446923\|61.08%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs2304824 dbSNP Clinvar	78466127	3805.77	T	C	PASS	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.52676	0.52680	0.43674	0.87	0.00		None None	None None None None	ACSBG1\|0.055446923\|61.08%
ADAL
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	62388010_s7 mvar 62388010_S7.GATK	15	rs2278857 dbSNP Clinvar	43632549	744.77	T	C	PASS	0/1	0	SPLICE_SITE_REGION+SYNONYMOUS_CODING	LOW	None	0.53914	0.53910	0.48339				None None	None None None None	ADAL\|0.343367733\|24.61%
ADAMTS17
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	62388010_s7 mvar 62388010_S7.GATK	15	rs4965613 dbSNP Clinvar	100801698	598.77	G	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.69209	0.69210	0.32600				None None	None None None None	ADAMTS17\|0.138524801\|44.61%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs4369638 dbSNP Clinvar	100794363	283.77	C	T	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.82149	0.82150	0.25465				None None	None None None None	ADAMTS17\|0.138524801\|44.61%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs2573652 dbSNP Clinvar	100514614	1040.77	T	C	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.67951	0.67950	0.28556	1.00	0.00		None None	None None None None	ADAMTS17\|0.138524801\|44.61%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs12907333 dbSNP Clinvar	100672237	3334.77	T	G	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.99760	0.99760	0.00162				None None	None None None None	ADAMTS17\|0.138524801\|44.61%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs28567966 dbSNP Clinvar	100692845	1891.77	A	G	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.14577	0.14580	0.16608	0.92	0.00		None None	None None None None	ADAMTS17\|0.138524801\|44.61%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs61752832 dbSNP Clinvar	100649248	1199.77	G	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.08526	0.08526	0.08811				None None	None None None None	ADAMTS17\|0.138524801\|44.61%
ADAMTS7
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	62388010_s7 mvar 62388010_S7.GATK	15	rs1809421 dbSNP Clinvar	79058572	865.77	T	G	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.00080	0.00080	0.06722				None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs7173267 dbSNP Clinvar	79092750	2146.77	G	C	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.24860	0.24860	0.32778				None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs3825807 dbSNP Clinvar	79089111	496.77	A	G	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.25020	0.25020	0.34649	0.40	0.00		None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs3743057 dbSNP Clinvar	79089007	1282.77	T	C	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.79253	0.79250	0.25304				None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs11854507 dbSNP Clinvar	79069121	906.77	A	G	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.25340	0.25340	0.33291				None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs11635870 dbSNP Clinvar	79064143	955.77	C	G	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.18610	0.18610	0.31877				None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs11635931 dbSNP Clinvar	79064080	658.77	G	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.18610	0.18610	0.31892				None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs28699256 dbSNP Clinvar	79058951	92.77	T	C	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.27177	0.27180	0.36795	0.68	0.00		None None	None None None None	ADAMTS7\|0.010836867\|80.23%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs7495616 dbSNP Clinvar	79054900	1388.77	C	G	PASS	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.66653	0.66650	0.26927	1.00	0.00		None None	None None None None	ADAMTS7\|0.010836867\|80.23%
ADAMTSL3
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	62388010_s7 mvar 62388010_S7.GATK	15	rs7176737 dbSNP Clinvar	84651290	2123.77	T	C	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.86921	0.86920	0.16600				None None	None None None None	ADAMTSL3\|0.040550889\|65.6%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs4483821 dbSNP Clinvar	84488636	840.77	A	G	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.67931	0.67930	0.43749	0.57	0.00		None None	None None None None	ADAMTSL3\|0.040550889\|65.6%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs950169 dbSNP Clinvar	84706461	549.77	C	T	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.12899	0.12900	0.19479	0.05	0.00		None None	None None None None	ADAMTSL3\|0.040550889\|65.6%
ADPGK
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	62388010_s7 mvar 62388010_S7.GATK	15	rs11634630 dbSNP Clinvar	73067234	1769.77	T	C	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.96006	0.96010	0.03962				None None	None None None None	ADPGK\|0.134394275\|45.22%
AEN
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	62388010_s7 mvar 62388010_S7.GATK	15	rs3743476 dbSNP Clinvar	89169614	2184.77	A	G	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.19788	0.19790	0.26836				None None	None None None None	AEN\|0.108873578\|49.4%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs3743475 dbSNP Clinvar	89172558	3899.77	G	C	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.75240	0.75240	0.19457				None None	None None None None	AEN\|0.108873578\|49.4%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs3743477 dbSNP Clinvar	89169484	1592.77	C	T	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.07388	0.07388	0.07301	0.04	0.00		None None	None None None None	AEN\|0.108873578\|49.4%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs8027765 dbSNP Clinvar	89169858	7940.77	A	G	PASS	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.75839	0.75840	0.18626	1.00	0.00		None None	None None None None	AEN\|0.108873578\|49.4%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs34649587 dbSNP Clinvar	89169653	2499.77	G	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.04034	0.04034	0.04096				None None	None None None None	AEN\|0.108873578\|49.4%
AGBL1
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	62388010_s7 mvar 62388010_S7.GATK	15	rs1353578 dbSNP Clinvar	86800209	1156.77	C	T	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.53974	0.53970	0.35463				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs79994825 dbSNP Clinvar	86790990	1736.77	C	T	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.01238	0.01238	0.00047				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs11857527 dbSNP Clinvar	86807843	1148.77	T	C	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.13359	0.13360	0.16900	0.05	0.00		None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs11856833 dbSNP Clinvar	86807884	1344.77	A	C	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.13379	0.13380	0.17401				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs1006030 dbSNP Clinvar	87531281	1006.77	A	C	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.82069	0.82070	0.19396				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs10520617 dbSNP Clinvar	86807542	652.77	C	T	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.12800	0.12800	0.16026				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs1566088 dbSNP Clinvar	86806029	1789.77	C	T	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None			0.30818				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs1367647 dbSNP Clinvar	86940673	2402.77	C	T	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.11102	0.11100	0.10937				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs4362360 dbSNP Clinvar	86940622	1940.77	T	C	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.74421	0.74420	0.39279				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs11858435 dbSNP Clinvar	86814866	809.77	A	G	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.68211	0.68210	0.26808				None None	None None None None	AGBL1\|0.082073978\|54.74%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs8028043 dbSNP Clinvar	87217613	3979.77	A	G	PASS	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.89217	0.89220	0.11030	1.00	0.00		None None	None None None None	AGBL1\|0.082073978\|54.74%
AKAP13
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	62388010_s7 mvar 62388010_S7.GATK	15	rs7179919 dbSNP Clinvar	86125304	1033.77	C	T	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.19229	0.19230	0.12610				None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs2241268 dbSNP Clinvar	86278309	917.77	G	A	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.13658	0.13660	0.19151	0.04	0.97		None None	None None None None	AKAP13\|0.042148693\|65.04%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs2291049 dbSNP Clinvar	86087309	2509.77	T	C	PASS	1/1	0	None	None	None	0.74421	0.74420					None None	None None None None	AKAP13\|0.042148693\|65.04%
ALDH1A2
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	62388010_s7 mvar 62388010_S7.GATK	15	rs4646626 dbSNP Clinvar	58256127	2685.77	C	T	PASS	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.37280	0.37280	0.47193	0.33	0.00		None None	None None None None	ALDH1A2\|0.864934326\|4.39%
ALPK3
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	62388010_s7 mvar 62388010_S7.GATK	15	rs167379 dbSNP Clinvar	85401419	1694.77	T	C	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.84784	0.84780	0.16228				None None	None None None None	ALPK3\|0.009711296\|81.06%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs306197 dbSNP Clinvar	85401259	1836.77	C	T	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.80471	0.80470	0.21088	0.84	0.00		None None	None None None None	ALPK3\|0.009711296\|81.06%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs3803406 dbSNP Clinvar	85383839	2317.77	G	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.74361	0.74360	0.32490				None None	None None None None	ALPK3\|0.009711296\|81.06%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs11857356 dbSNP Clinvar	85360101	1343.77	T	C	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.86482	0.86480	0.14436				None None	None None None None	ALPK3\|0.009711296\|81.06%
ANKDD1A
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	62388010_s7 mvar 62388010_S7.GATK	15	rs2414865 dbSNP Clinvar	65236875	983.77	T	C	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.55292	0.55290	0.45293				None None	None None None None	ANKDD1A\|0.020521915\|73.92%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs144426862 dbSNP Clinvar	65236879	1674.77	C	T	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.00280	0.00280	0.00085	0.00	1.00		None None	None None None None	ANKDD1A\|0.020521915\|73.92%
ANKRD34C
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	62388010_s7 mvar 62388010_S7.GATK	15	rs8038778 dbSNP Clinvar	79586361	5607.77	T	C	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.68371	0.68370					None None	None None None None	ANKRD34C\|0.011717454\|79.43%
ANKRD63
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	62388010_s7 mvar 62388010_S7.GATK	15	rs4924446 dbSNP Clinvar	40573716	3440.77	A	G	PASS	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.99701	0.99700		1.00	0.00		None None	None None None None	PLCB2\|0.161252195\|41.37%,ANKRD63\|0.046527849\|63.73%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs12440450 dbSNP Clinvar	40573675	1076.77	G	T	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.32648	0.32650					None None	None None None None	PLCB2\|0.161252195\|41.37%,ANKRD63\|0.046527849\|63.73%
ANPEP
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	62388010_s7 mvar 62388010_S7.GATK	15	rs25652 dbSNP Clinvar	90335534	3053.77	G	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.25220	0.25220	0.26219				None None	None None None None	ANPEP\|0.009750059\|81.03%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs25651 dbSNP Clinvar	90335788	1426.77	C	T	PASS	0/1	0	PROTEIN_STRUCTURAL_INTERACTION_LOCUS	HIGH	None	0.35064	0.35060	0.37537	1.00	0.00		None None	None None None None	ANPEP\|0.009750059\|81.03%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs2305443 dbSNP Clinvar	90346861	2170.77	C	T	PASS	0/1	0	None	None	None	0.45567	0.45570	0.48831	0.00	0.00		None None	None None None None	ANPEP\|0.009750059\|81.03%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs25654 dbSNP Clinvar	90334240	1312.77	A	G	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.31350	0.31350	0.33221				None None	None None None None	ANPEP\|0.009750059\|81.03%
ANXA2
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	62388010_s7 mvar 62388010_S7.GATK	15	rs12904657 dbSNP Clinvar	60690089	1440.77	A	G	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.79433	0.79430	0.25341				None None	None None None None	ANXA2\|0.820928885\|5.29%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs12442554 dbSNP Clinvar	60639874	572.77	G	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.03135	0.03135	0.00877				None None	None None None None	ANXA2\|0.820928885\|5.29%
AP4E1
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	62388010_s7 mvar 62388010_S7.GATK	15	rs2306331 dbSNP Clinvar	51217361	1408.77	T	C	PASS	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.44090	0.44090	0.43713	1.00	0.00		None None	None None None None	AP4E1\|0.148213005\|43.26%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs3825798 dbSNP Clinvar	51294832	791.77	G	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.20407	0.20410	0.18963				None None	None None None None	AP4E1\|0.148213005\|43.26%
AQP9
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	62388010_s7 mvar 62388010_S7.GATK	15	rs2249783 dbSNP Clinvar	58471368	2781.77	C	T	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.83646	0.83650	0.09948				None None	None None None None	ALDH1A2\|0.864934326\|4.39%,AQP9\|0.053776428\|61.54%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs1867380 dbSNP Clinvar	58476281	1975.77	A	G	PASS	1/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.84285	0.84290	0.09940	1.00	0.00		None None	None None None None	ALDH1A2\|0.864934326\|4.39%,AQP9\|0.053776428\|61.54%
AQR
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	62388010_s7 mvar 62388010_S7.GATK	15	rs9920529 dbSNP Clinvar	35256624	1180.77	C	G	PASS	0/1	0	None	None	None	0.70088	0.70090					None None	None None None None	AQR\|0.159778967\|41.59%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs8035240 dbSNP Clinvar	35149008	6966.77	C	T	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.97744	0.97740	0.02611				None None	None None None None	AQR\|0.159778967\|41.59%
ARID3B
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	62388010_s7 mvar 62388010_S7.GATK	15	rs8043032 dbSNP Clinvar	74836316	468.77	A	G	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.00160	0.36080	0.13978				None None	None None None None	ARID3B\|0.157497653\|41.95%
ARRDC4
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	62388010_s7 mvar 62388010_S7.GATK	15	rs2130882 dbSNP Clinvar	98513845	537.77	T	C	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.41913	0.41910	0.37514	0.17	0.88		None None	None None None None	ARRDC4\|0.053899861\|61.5%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs4965046 dbSNP Clinvar	98504100	1118.77	G	C	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.76238	0.76240	0.23067				None None	None None None None	ARRDC4\|0.053899861\|61.5%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs12101554 dbSNP Clinvar	98504326	699.77	A	G	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.76218	0.76220	0.26056	0.32	0.00		None None	None None None None	ARRDC4\|0.053899861\|61.5%
ATP10A
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	62388010_s7 mvar 62388010_S7.GATK	15	rs2076744 dbSNP Clinvar	25926179	745.77	C	T	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.28215	0.28210	0.24735	0.06	0.10		None None	None None None None	ATP10A\|0.032097365\|68.57%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs1047700 dbSNP Clinvar	25924539	2325.77	T	C	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.26637	0.26640	0.22836				None None	None None None None	ATP10A\|0.032097365\|68.57%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs10873607 dbSNP Clinvar	25961964	3091.77	A	G	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.99221	0.99220	0.00600				None None	None None None None	ATP10A\|0.032097365\|68.57%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs2076743 dbSNP Clinvar	25926186	745.77	G	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.67792	0.67790	0.31993				None None	None None None None	ATP10A\|0.032097365\|68.57%
ATP8B4
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	62388010_s7 mvar 62388010_S7.GATK	15	rs4774549 dbSNP Clinvar	50152583	2284.77	G	T	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	1.00000	1.00000					None None	None None None None	ATP8B4\|0.392767287\|21.21%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs16963151 dbSNP Clinvar	50279662	1285.77	T	C	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.29213	0.29210	0.27168	0.20	0.01		None None	None None None None	ATP8B4\|0.392767287\|21.21%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs2452524 dbSNP Clinvar	50226313	634.77	G	T	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.63978	0.63980	0.25628	0.18	0.00		None None	None None None None	ATP8B4\|0.392767287\|21.21%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs571860319 dbSNP Clinvar	50168526	883.77	C	T	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None	0.00020	0.00020					None None	None None None None	ATP8B4\|0.392767287\|21.21%
BAHD1
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	62388010_s7 mvar 62388010_S7.GATK	15	rs3803357 dbSNP Clinvar	40751555	3015.77	C	A	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.67572	0.67570	0.41450	0.01	0.02		None None	None None None None	BAHD1\|0.194465075\|37.34%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs3743143 dbSNP Clinvar	40750740	1957.77	A	G	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.05671	0.05671	0.01622	0.00	0.00		None None	None None None None	BAHD1\|0.194465075\|37.34%
BBS4
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	62388010_s7 mvar 62388010_S7.GATK	15	rs12914333 dbSNP Clinvar	73023937	3737.77	T	C	PASS	1/1	0	SYNONYMOUS_CODING	LOW	None	0.96046	0.96050	0.04396				None None	None None None None	BBS4\|0.334154614\|25.16%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs2277598 dbSNP Clinvar	73027478	769.77	T	C	PASS	0/1	0	NON_SYNONYMOUS_CODING	MODERATE	None	0.42891	0.42890	0.46728	0.48	0.00		None None	None None None None	BBS4\|0.334154614\|25.16%
	View	62388010_s7 mvar 62388010_S7.GATK	15	rs778939142 dbSNP Clinvar	73027512	891.77	C	A	PASS	0/1	0	SYNONYMOUS_CODING	LOW	None							None None	None None None None	BBS4\|0.334154614\|25.16%
BCL2A1
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	62388010_s7 mvar 62388010_S7.GATK	15	rs8026803 dbSNP Clinvar	80260014	424.77	T	C	PASS	0/1	0	None	None	None	0.38938	0.38940	0.29010				None None	None None None None	BCL2A1\|0.007127851\|83.37%