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+ Genes 416

Genes:
ABCD4, ABHD12B, ABHD4, AC007956.1, ACIN1, ACOT1, ACOT2, ACOT4, ADAM21, ADSSL1, AHNAK2, AHSA1, AK7, AKAP5, AKAP6, AKT1, AL133373.1, AL139099.1, AL391152.1, ALKBH1, ANGEL1, AP5M1, APEX1, APOPT1, ARHGEF40, ARID4A, ASB2, ASPG, ATG2B, ATL1, ATP5S, ATXN3, BAZ1A, BCL11B, BCL2L2-PABPN1, BDKRB1, BDKRB2, BEGAIN, BRF1, BTBD6, C14orf105, C14orf132, C14orf144, C14orf159, C14orf166B, C14orf178, C14orf180, C14orf2, C14orf23, C14orf37, C14orf39, C14orf64, C14orf79, C14orf80, C14orf93, CATSPERB, CCDC175, CCDC177, CCDC85C, CCDC88C, CCNB1IP1, CCNK, CDC42BPB, CDCA4, CDH24, CDKL1, CEP170B, CHD8, CHGA, CHMP4A, CKB, CMA1, CMTM5, COCH, COQ6, CPNE6, CTAGE5, DAAM1, DACT1, DAD1, DDHD1, DDX24, DEGS2, DHRS4, DHRS4-AS1, DHRS4L2, DIO2, DKFZP434O1614, DLK1, DLST, DNAAF2, DPF3, DYNC1H1, EDDM3A, EDDM3B, EFCAB11, EFS, EGLN3, ELMSAN1, EML1, EML5, ENTPD5, ESR2, ESRRB, EVL, EXD2, EXOC3L4, EXOC5, FAM161B, FAM181A, FANCM, FBLN5, FERMT2, FLRT2, FLVCR2, FOS, FOXA1, FOXG1, FOXN3, FRMD6, FSCB, FUT8, GALC, GALNT16, GLRX5, GOLGA5, GPATCH2L, GPR132, GPR135, GPR137C, GPR65, GSTZ1, GZMB, HEATR4, HEATR5A, HECTD1, HHIPL1, HOMEZ, HSP90AA1, IFI27, IFI27L1, IFT43, IGHA1, IGHA2, IGHD, IGHD2-2, IGHD2-21, IGHE, IGHG1, IGHG2, IGHG3, IGHG4, IGHJ6, IGHM, IGHV1-18, IGHV1-46, IGHV1-58, IGHV1-69, IGHV1-8, IGHV2-26, IGHV2-5, IGHV2-70, IGHV3-11, IGHV3-15, IGHV3-16, IGHV3-20, IGHV3-30, IGHV3-35, IGHV3-38, IGHV3-43, IGHV3-48, IGHV3-53, IGHV3-64, IGHV3-66, IGHV3-7, IGHV3-73, IGHV4-28, IGHV4-31, IGHV4-39, IGHV4-4, IGHV4-59, IGHV4-61, IGHV5-51, IGHV6-1, IGHV7-81, IL25, INF2, INSM2, IRF2BPL, ISM2, JAG2, JDP2, JPH4, KCNH5, KCNK10, KHNYN, KIAA0391, KIAA0586, KIF26A, KLHDC1, KLHL33, L2HGDH, L3HYPDH, LGMN, LRFN5, LRRC16B, LRRC9, LTBP2, MARK3, MBIP, MDGA2, METTL17, METTL3, MIA2, MIS18BP1, MLH3, MMP14, MOK, MRPL52, MTA1, MTHFD1, MYH6, MYH7, NAA30, NDUFB1, NEK9, NEMF, NFATC4, NFKBIA, NGDN, NID2, NIN, NOP9, NRDE2, NRXN3, NUDT14, NUMB, NYNRIN, OR10G2, OR10G3, OR11G2, OR11H12, OR11H6, OR11H7, OR4E2, OR4K1, OR4K14, OR4K15, OR4K17, OR4K2, OR4K5, OR4L1, OR4M1, OR4Q2, OR4Q3, OR5AU1, OR6J1, OR6S1, OSGEP, OTUB2, OXA1L, PAPLN, PARP2, PAX9, PCK2, PCNX, PCNXL4, PLEKHD1, PLEKHG3, PLEKHH1, PNN, POMT2, POTEG, PPP1R36, PRIMA1, PRKCH, PSMA6, PSMC1, PSME2, PTGER2, PTGR2, PTPN21, PYGL, RAB15, RALGAPA1, RBM23, REC8, RGS6, RIN3, RNASE13, RNASE3, RNASE7, RNASE8, RNASE9, RNF31, RP11-131H24.4, RP11-187E13.1, RP11-80A15.1, RP11-998D10.1, RPGRIP1, RPS6KA5, RPS6KL1, RTL1, RTN1, SAMD15, SAV1, SDR39U1, SEC23A, SERPINA1, SERPINA11, SERPINA12, SERPINA3, SERPINA5, SERPINA6, SERPINA9, SIPA1L1, SIX1, SIX6, SLC10A1, SLC24A4, SLC25A29, SLC25A47, SLC38A6, SLC39A2, SLC7A7, SLC7A8, SLC8A3, SLIRP, SMEK1, SMOC1, SNW1, SNX6, SOS2, SPATA7, SPTB, SPTLC2, SSTR1, STON2, STRN3, STXBP6, SUPT16H, SYNDIG1L, SYNE2, SYNE3, SYT16, TBPL2, TC2N, TDRD9, TECPR2, TEP1, TMED10, TMED8, TMEM179, TMEM253, TMEM260, TMEM30B, TMEM63C, TMX1, TNFAIP2, TOX4, TRAF3, TRAJ13, TRAJ16, TRAJ32, TRAJ36, TRAJ37, TRAJ47, TRAV1-1, TRAV12-2, TRAV13-1, TRAV14DV4, TRAV20, TRAV26-1, TRAV27, TRAV30, TRAV35, TRAV36DV7, TRAV6, TRAV8-3, TRAV8-4, TRAV8-6, TRAV9-2, TRDC, TRDJ4, TRDV2, TRDV3, TRIM9, TRIP11, TRMT5, TRMT61A, TSHR, TSSK4, TTC5, TTC6, TTC7B, TTC9, TTLL5, TXNDC16, UNC79, VASH1, VRK1, VSX2, VTI1B, WDR20, WDR25, XRCC3, YLPM1, ZBTB42, ZC2HC1C, ZFHX2, ZFP36L1, ZFYVE1, ZFYVE26, ZNF219, ZNF410, ZNF839,

+ Genes associated with diseases 80

Genes at Omim

ABCD4, ADSSL1, AK7, AKT1, APOPT1, ATL1, ATXN3, BCL11B, BRF1, CCDC88C, CCNK, CHD8, COCH, COQ6, DACT1, DDHD1, DYNC1H1, EML1, ESR2, ESRRB, FANCM, FBLN5, FLVCR2, FOXG1, FUT8, GALC, GLRX5, GSTZ1, IFT43, IGHG2, IGHM, INF2, IRF2BPL, KIAA0586, L2HGDH, LTBP2, MARK3, MLH3, MMP14, MTHFD1, MYH6, MYH7, NEK9, NFKBIA, NIN, OSGEP, PAX9, PCK2, POMT2, PRKCH, PSMA6, PTGER2, PYGL, RPGRIP1, SEC23A, SERPINA1, SERPINA3, SIX1, SIX6, SLC24A4, SLC7A7, SMOC1, SOS2, SPATA7, SPTB, SPTLC2, SYNE2, TDRD9, TECPR2, TMEM260, TRAF3, TRIP11, TRMT5, TSHR, TTLL5, VRK1, XRCC3, ZBTB42, ZFHX2, ZFYVE26,
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type, 614857 (3)
ADSSL1 Myopathy, distal, 5, 617030 (3)
AK7 ?Spermatogenic failure 27, 617965 (3)
AKT1 Breast cancer, somatic, 114480 (3)
Colorectal cancer, somatic, 114500 (3)
Cowden syndrome 6, 615109 (3)
{Schizophrenia, susceptibility to}, 181500 (2)
Ovarian cancer, somatic, 167000 (3)
Proteus syndrome, somatic, 176920 (3)
APOPT1 Mitochondrial complex IV deficiency, 220110 (3)
ATL1 Neuropathy, hereditary sensory, type ID, 613708 (3)
Spastic paraplegia 3A, autosomal dominant, 182600 (3)
ATXN3 Machado-Joseph disease, 109150 (3)
BCL11B Immunodeficiency 49, 617237 (3)
Intellectual developmental disorder with dysmorphic facies, speech delay, and T-cell abnormalities, 618092 (3)
BRF1 Cerebellofaciodental syndrome, 616202 (3)
CCDC88C Hydrocephalus, congenital, 1, 236600 (3)
?Spinocerebellar ataxia 40, 616053 (3)
CCNK ?Intellectual developmental disorder with hypertelorism and distinctive facies, 618147 (3)
CHD8 {Autism, susceptibility to, 18}, 615032 (3)
COCH Deafness, autosomal dominant 9, 601369 (3)
?Deafness, autosomal recessive 110, 618094 (3)
COQ6 Coenzyme Q10 deficiency, primary, 6, 614650 (3)
DACT1 ?Townes-Brocks syndrome 2, 617466 (3)
DDHD1 Spastic paraplegia 28, autosomal recessive, 609340 (3)
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 20, 614228 (3)
Mental retardation, autosomal dominant 13, 614563 (3)
Spinal muscular atrophy, lower extremity-predominant 1, AD, 158600 (3)
EML1 Band heterotopia, 600348 (3)
ESR2 ?Ovarian dysgenesis 8, 618187 (3)
ESRRB Deafness, autosomal recessive 35, 608565 (3)
FANCM ?Premature ovarian failure 15, 618096 (3)
Spermatogenic failure 28, 618086 (3)
FBLN5 Cutis laxa, autosomal dominant 2, 614434 (3)
Cutis laxa, autosomal recessive, type IA, 219100 (3)
Macular degeneration, age-related, 3, 608895 (3)
Neuropathy, hereditary, with or without age-related macular degeneration, 608895 (3)
FLVCR2 Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome, 225790 (3)
FOXG1 Rett syndrome, congenital variant, 613454 (3)
FUT8 Congenital disorder of glycosylation with defective fucosylation 1, 618005 (3)
GALC Krabbe disease, 245200 (3)
GLRX5 Anemia, sideroblastic, 3, pyridoxine-refractory, 616860 (3)
Spasticity, childhood-onset, with hyperglycinemia, 616859 (3)
GSTZ1 [Maleylacetoacetate isomerase deficiency], 617596 (3)
IFT43 ?Cranioectodermal dysplasia 3, 614099 (3)
?Retinitis pigmentosa 81, 617871 (3)
Short-rib thoracic dysplasia 18 with polydactyly, 617866 (3)
IGHG2 IgG2 deficiency, selective (3)
IGHM Agammaglobulinemia 1, 601495 (3)
INF2 Glomerulosclerosis, focal segmental, 5, 613237 (3)
Charcot-Marie-Tooth disease, dominant intermediate E, 614455 (3)
IRF2BPL Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
KIAA0586 Joubert syndrome 23, 616490 (3)
Short-rib thoracic dysplasia 14 with polydactyly, 616546 (3)
L2HGDH L-2-hydroxyglutaric aciduria, 236792 (3)
LTBP2 Glaucoma 3, primary congenital, D, 613086 (3)
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma, 251750 (3)
?Weill-Marchesani syndrome 3, recessive, 614819 (3)
MARK3 ?Visual impairment and progressive phthisis bulbi, 618283 (3)
MLH3 Colorectal cancer, hereditary nonpolyposis, type 7, 614385 (3)
Colorectal cancer, somatic, 114500 (3)
{Endometrial cancer, susceptibility to}, 608089 (3)
MMP14 ?Winchester syndrome, 277950 (3)
MTHFD1 Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia, 617780 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MYH6 Atrial septal defect 3, 614089 (3)
Cardiomyopathy, dilated, 1EE, 613252 (3)
Cardiomyopathy, hypertrophic, 14, 613251 (3)
{Sick sinus syndrome 3}, 614090 (3)
MYH7 Cardiomyopathy, dilated, 1S, 613426 (3)
Cardiomyopathy, hypertrophic, 1, 192600 (3)
Laing distal myopathy, 160500 (3)
Left ventricular noncompaction 5, 613426 (3)
Myopathy, myosin storage, autosomal dominant, 608358 (3)
Myopathy, myosin storage, autosomal recessive, 255160 (3)
Scapuloperoneal syndrome, myopathic type, 181430 (3)
NEK9 Lethal congenital contracture syndrome 10, 617022 (3)
Nevus comedonicus, somatic, 617025 (3)
?Arthrogryposis, Perthes disease, and upward gaze palsy, 614262 (3)
NFKBIA Ectodermal dysplasia and immunodeficiency 2, 612132 (3)
NIN ?Seckel syndrome 7, 614851 (3)
OSGEP Galloway-Mowat syndrome 3, 617729 (3)
PAX9 Tooth agenesis, selective, 3, 604625 (3)
PCK2 PEPCK deficiency, mitochondrial, 261650 (1)
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)
PRKCH {Cerebral infarction, susceptibility to}, 601367 (3)
PSMA6 {Myocardial infarction, susceptibility to}, 608446 (3)
PTGER2 {Asthma, aspirin-induced, susceptibility to}, 208550 (3)
PYGL Glycogen storage disease VI, 232700 (3)
RPGRIP1 Cone-rod dystrophy 13, 608194 (3)
Leber congenital amaurosis 6, 613826 (3)
SEC23A Craniolenticulosutural dysplasia, 607812 (3)
SERPINA1 Hemorrhagic diathesis due to antithrombin Pittsburgh, 613490 (3)
Emphysema due to AAT deficiency, 613490 (3)
Emphysema-cirrhosis, due to AAT deficiency, 613490 (3)
{Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (1)
SERPINA3 Alpha-1-antichymotrypsin deficiency (3)
Cerebrovascular disease, occlusive (3)
SIX1 Branchiootic syndrome 3, 608389 (3)
Deafness, autosomal dominant 23, 605192 (3)
SIX6 Optic disc anomalies with retinal and/or macular dystrophy, 212550 (3)
SLC24A4 Amelogenesis imperfecta, type IIA5, 615887 (3)
[Skin/hair/eye pigmentation 6, blond/brown hair], 210750 (3)
[Skin/hair/eye pigmentation 6, blue/green eyes], 210750 (3)
SLC7A7 Lysinuric protein intolerance, 222700 (3)
SMOC1 Microphthalmia with limb anomalies, 206920 (3)
SOS2 Noonan syndrome 9, 616559 (3)
SPATA7 Leber congenital amaurosis 3, 604232 (3)
Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)
SPTB Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3)
Elliptocytosis-3, 617948 (3)
Spherocytosis, type 2, 616649 (3)
SPTLC2 Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
TDRD9 ?Spermatogenic failure 30, 618110 (3)
TECPR2 Spastic paraplegia 49, autosomal recessive, 615031 (3)
TMEM260 Structural heart defects and renal anomalies syndrome, 617478 (3)
TRAF3 {?Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 5}, 614849 (3)
TRIP11 Achondrogenesis, type IA, 200600 (3)
Osteochondrodysplasia, 184260 (3)
TRMT5 Combined oxidative phosphorylation deficiency 26, 616539 (3)
TSHR Hyperthyroidism, familial gestational, 603373 (3)
Hyperthyroidism, nonautoimmune, 609152 (3)
Hypothyroidism, congenital, nongoitrous, 1 275200 (3)
Thyroid adenoma, hyperfunctioning, somatic (3)
Thyroid carcinoma with thyrotoxicosis (3)
TTLL5 Cone-rod dystrophy 19, 615860 (3)
VRK1 Pontocerebellar hypoplasia type 1A, 607596 (3)
XRCC3 {Melanoma, cutaneous malignant, 6}, 613972 (3)
{Breast cancer, susceptibility to}, 114480 (3)
ZBTB42 ?Lethal congenital contracture syndrome 6, 616248 (3)
ZFHX2 ?Marsili syndrome, 147430 (3)
ZFYVE26 Spastic paraplegia 15, autosomal recessive, 270700 (3)

Genes at Clinical Genomics Database

ABCD4, AKT1, APOPT1, ATL1, ATXN3, BRF1, CCDC88C, CHD8, COCH, COQ6, DNAAF2, DYNC1H1, ESRRB, FANCM, FBLN5, FLVCR2, FOXG1, GALC, GLRX5, IFT43, IGHM, INF2, KIAA0586, L2HGDH, LTBP2, MLH3, MMP14, MTHFD1, MYH6, MYH7, NFKBIA, NIN, PAX9, POMT2, PYGL, RPGRIP1, SEC23A, SERPINA1, SERPINA6, SIX1, SIX6, SLC24A4, SLC7A7, SMOC1, SOS2, SPATA7, SPTB, SYNE2, TECPR2, TRAF3, TRIP11, TRMT5, TSHR, TTLL5, VRK1, VSX2, ZBTB42, ZFYVE26,
ABCD4 Methylmalonic aciduria and homocystinuria, cblJ type
AKT1 Cowden syndrome 6
Proteus syndrome
APOPT1 Mitochondrial complex IV deficiency
ATL1 Neuropathy, hereditary sensory, type 1D
Spastic paraplegia 3, autosomal dominant
ATXN3 Spinocerebellar ataxia 3 (Machado-Joseph disease)
BRF1 Cerebellofaciodental syndrome
CCDC88C Spinocerebellar ataxia 40
CHD8 Autism, susceptibility to 18
COCH Deafness, autosomal dominant 9
COQ6 Coenzyme Q10 deficiency, primary 6
DNAAF2 Ciliary dyskinesia, primary, 10
DYNC1H1 Charcot-Marie-Tooth disease, axonal, type 2O
Mental retardation, autosomal dominant 13
Spinal muscular atrophy, lower extremity, autosomal dominant
ESRRB Deafness, autosomal recessive 35
FANCM Fanconi anemia type M
FBLN5 Macular degeneration, age-related 3
Cutis laxa, autosomal dominant 2
Cutis laxa, autosomal recessive, type IA
FLVCR2 Proliferative vasculopathy and hydraencephaly-hydrocephaly syndrome
FOXG1 Rett syndrome, congenital variant
GALC Krabbe disease
GLRX5 Anemia, sideroblastic 3, pyridoxine-refractory
IFT43 Cranioectodermal dysplasia 3
IGHM Agammaglobulinemia 1
INF2 Focal segmental glomerulosclerosis 5
Charcot-Marie-Tooth disease, dominant intermediate E
KIAA0586 Joubert syndrome 23
Short rib thoracic dysplasia 14 with polydactyly
L2HGDH L-2-hydroxyglutaric aciduria
LTBP2 Glaucoma 3, primary congenital, D
Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma
Weill-Marchesani syndrome 3
MLH3 Colorectal cancer, hereditary nonpolyposis type 7
Endometrial carcinoma
MMP14 Winchester syndrome
MTHFD1 Severe combined immunodeficiency
MYH6 Cardiomyopathy, dilated, 1EE
Cardiomyopathy, familial hypertrophic 14
MYH7 Cardiomyopathy, dilated, 1S
Cardiomyopathy, familial hypertrophic
Myopathy, distal
Myopathy, myosin storage, autosomal recessive
NFKBIA Ectodermal dysplasia, anhidrotic, with T-cell immunodeficiency
NIN Seckel syndrome 7
PAX9 Tooth agenesis, selective, 3
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2
PYGL Glycogen storage disease VI
RPGRIP1 Leber congenital amaurosis 6
Cone-rod dystrophy 13
SEC23A Craniolenticulosutural dysplasia
SERPINA1 Alpha-1-Antitrypsin deficiency
SERPINA6 Corticosteroid-binding globulin deficiency
SIX1 Deafness, autosomal dominant 23
Branchiootorenal syndrome 3
Branchiootic syndrome 3
SIX6 Microphthalmia, isolated, with cataract 2
Optic disc anomalies with retinal and/or macular dystrophy
SLC24A4 Ameliogenesis imperfecta, hypomaturation type, IIA5
SLC7A7 Lysinuric protein intolerance
SMOC1 Microphthalmia with limb anomalies
SOS2 Noonan syndrome 9
SPATA7 Leber congenital amaurosis 3
Retitinitis pigmentosa, juvenile, SPATA7-related
SPTB Spherocytosis, type 2
Ellipsocytosis, type 3
Anemia, neonatal hemolytic
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant
TECPR2 Spastic paraplegia 49, autosomal recessive
TRAF3 Herpes simplex encephalitis, susceptibility to, 3
TRIP11 Achondrogenesis, type IA
TRMT5 Combined oxidative phosphorylation deficiency 26
TSHR Hyperthyroidism, familial, gestational
Hyperthyroidism, nonautoimmune
Hypothyroidism, congenital, nongoitrous, 1
TTLL5 Cone-rod dystrophy 19
VRK1 Pontocerebellar hypoplasia type 1A
VSX2 Microphthalmia, isolated 2
Microphthalmia, isolated, with coloboma 3
ZBTB42 Lethal congenital contracture syndrome 6
ZFYVE26 Spastic paraplegia 15

Genes at HGMD

Summary

Number of Variants: 6178
Number of Genes: 416

Export to: CSV

ABCD4
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 combined sample_46.variant10 14 rs139863822
dbSNP Clinvar 		74769606 3719.72 C G PASS 0/1 250 NON_SYNONYMOUS_CODING MODERATE None 0.00719 0.00719 0.00702 1.00 0.00 None None None None None None ABCD4|0.201608796|36.57%
View combined sample_46.variant10 14 rs34992370
dbSNP Clinvar 		74763064 725.08 C T PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.07268 0.07268 0.07474 0.49 0.01 None None None None None None ABCD4|0.201608796|36.57%
View combined sample_46.variant10 14 rs57773157
dbSNP Clinvar 		74754936 597.39 G A PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.07248 0.07248 0.07481 None None None None None None ABCD4|0.201608796|36.57%
View combined sample_46.variant10 14 rs61744947
dbSNP Clinvar 		74764675 1480.68 G A PASS 0/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.07268 0.07268 0.07466 1.00 0.00 None None None None None None ABCD4|0.201608796|36.57%
View combined sample_46.variant10 14 rs11845976
dbSNP Clinvar 		74757019 1335.71 C T PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.07248 0.07248 0.07481 None None None None None None ABCD4|0.201608796|36.57%
View combined sample_46.variant10 14 rs1052000
dbSNP Clinvar 		74759529 1344.23 G A PASS 0/1 198 SYNONYMOUS_CODING LOW None 0.07268 0.07268 0.07481 None None None None None None ABCD4|0.201608796|36.57%
View combined sample_46.variant10 14 rs36031534
dbSNP Clinvar 		74763086 784.66 G C PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.07268 0.07268 0.07474 None None None None None None ABCD4|0.201608796|36.57%
View combined sample_46.variant10 14 rs58272575
dbSNP Clinvar 		74766360 422.2 T C PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.07428 0.07428 0.07543 0.37 0.01 None None None None None None ABCD4|0.201608796|36.57%

ABHD12B
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 combined sample_46.variant10 14 rs28564871
dbSNP Clinvar 		51368610 909.0 A G PASS 1/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.28375 0.28370 0.17772 1.00 0.00 None None None None None None PYGL|0.75708561|6.92%,ABHD12B|0.032837943|68.22%

ABHD4
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 combined sample_46.variant10 14 rs72677597
dbSNP Clinvar 		23078810 1722.93 A T PASS 1/1 194 SYNONYMOUS_CODING LOW None 0.10723 0.10720 0.12348 None None None None None None ABHD4|0.265560662|30.22%

AC007956.1
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 combined sample_46.variant10 14 rs2270425
dbSNP Clinvar 		75179734 1712.17 C G PASS 0/1 210 NON_SYNONYMOUS_CODING MODERATE None 0.36522 0.36520 1.00 0.00 None None None None None None AREL1|0.445762843|18.38%
View combined sample_46.variant10 14 rs2270424
dbSNP Clinvar 		75159007 821.8 G A PASS 0/1 54 STOP_GAINED HIGH None 0.24461 0.24460 None None None None None None AREL1|0.445762843|18.38%

ACIN1
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 combined sample_46.variant10 14 rs34870944
dbSNP Clinvar 		23548787 3336.79 C CG... PASS 0/1 186 CODON_INSERTION MODERATE None None None None None None None ACIN1|0.717450786|8.04%
View combined sample_46.variant10 14 rs1885097
dbSNP Clinvar 		23549319 1164.55 A G PASS 0/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.42832 0.42830 0.44526 0.00 None None None None None None ACIN1|0.717450786|8.04%
View combined sample_46.variant10 14 rs941719
dbSNP Clinvar 		23549379 4217.43 C G PASS 1/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.99960 0.99960 0.00338 0.00 None None None None None None ACIN1|0.717450786|8.04%
View combined sample_46.variant10 14 rs1885098
dbSNP Clinvar 		23549380 1339.46 G A PASS 0/1 117 SYNONYMOUS_CODING LOW None 0.00040 0.10520 0.00277 None None None None None None ACIN1|0.717450786|8.04%
View combined sample_46.variant10 14 rs3811182
dbSNP Clinvar 		23549785 1842.62 T C PASS 0/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.50080 0.50080 0.49300 0.00 None None None None None None ACIN1|0.717450786|8.04%

ACOT1
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 combined sample_46.variant10 14 rs193163333
dbSNP Clinvar 		74004517 2810.54 C T PASS 0/1 232 NON_SYNONYMOUS_CODING MODERATE None 0.01498 0.01498 0.01525 0.26 0.04 None None None None None None HEATR4|0.005039419|85.75%,ACOT1|0.012166346|79.11%

ACOT2
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 combined sample_46.variant10 14 rs7494
dbSNP Clinvar 		74042189 199.54 A G PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.21 0.00 None None None None None None ACOT2|0.010972761|80.08%
View combined sample_46.variant10 14 rs118157277
dbSNP Clinvar 		74040111 829.02 G C PASS 0/1 98 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00180 0.00180 None None None None None None ACOT2|0.010972761|80.08%

ACOT4
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 combined sample_46.variant10 14 rs2010070
dbSNP Clinvar 		74061968 3603.1 T C PASS 1/1 306 SYNONYMOUS_CODING LOW None 0.86182 0.86180 0.20060 None None None None None None ACOT4|0.025540514|71.55%
View combined sample_46.variant10 14 rs3742819
dbSNP Clinvar 		74058832 2712.0 C T PASS 0/1 207 NON_SYNONYMOUS_CODING MODERATE None 0.39697 0.39700 0.25100 0.04 0.74 None None None None None None ACOT4|0.025540514|71.55%

ADAM21
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 combined sample_46.variant10 14 rs12436346
dbSNP Clinvar 		70925257 1795.25 A G PASS 1/1 27 SYNONYMOUS_CODING LOW None 0.02736 None None None None None None ADAM21|0.009866102|80.97%
View combined sample_46.variant10 14 rs3829455
dbSNP Clinvar 		70924852 2139.76 A C PASS 1/1 67 SYNONYMOUS_CODING LOW None 0.44070 0.44070 0.36028 None None None None None None ADAM21|0.009866102|80.97%
View combined sample_46.variant10 14 rs3751523
dbSNP Clinvar 		70924462 1922.08 A G PASS 1/1 133 SYNONYMOUS_CODING LOW None 0.19437 None None None None None None ADAM21|0.009866102|80.97%
View combined sample_46.variant10 14 rs2022624
dbSNP Clinvar 		70925818 2077.46 T C PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.74301 0.74300 None None None None None None ADAM21|0.009866102|80.97%
View combined sample_46.variant10 14 rs3751521
dbSNP Clinvar 		70924249 154.96 A G PASS 1/1 30 SYNONYMOUS_CODING LOW None 0.64836 0.64840 0.37315 None None None None None None ADAM21|0.009866102|80.97%
View combined sample_46.variant10 14 rs58247196
dbSNP Clinvar 		70924450 388.46 C T PASS 0/1 135 SYNONYMOUS_CODING LOW None None None None None None None ADAM21|0.009866102|80.97%
View combined sample_46.variant10 14 rs8010994
dbSNP Clinvar 		70924501 1591.15 C G PASS 0/1 112 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.00 None None None None None None ADAM21|0.009866102|80.97%
View combined sample_46.variant10 14 rs3751520
dbSNP Clinvar 		70924237 163.5 C A PASS 1/1 25 SYNONYMOUS_CODING LOW None 0.37460 0.37460 None None None None None None ADAM21|0.009866102|80.97%

ADSSL1
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 combined sample_46.variant10 14 rs33958252
dbSNP Clinvar 		105196365 951.94 T C PASS 0/1 118 SYNONYMOUS_CODING LOW None 0.60923 0.60920 0.44888 None None None None None None ADSSL1|0.059470498|60.05%

AHNAK2
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 combined sample_46.variant10 14 rs199536215
dbSNP Clinvar 		105410451 2159.96 T C PASS 0/1 748 SYNONYMOUS_CODING LOW None None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 . 105410481 927.36 C G DRAGENHardSNP 0/1 712 SYNONYMOUS_CODING LOW None None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 . 105416103 6598.14 C T PASS 0/1 496 SYNONYMOUS_CODING LOW None None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs12890949
dbSNP Clinvar 		105415352 10804.2 G C PASS 1/1 290 NON_SYNONYMOUS_CODING MODERATE None 0.00519 0.00519 0.05832 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs10134675
dbSNP Clinvar 		105415229 4211.63 T C PASS 0/1 401 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.28230 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs10145566
dbSNP Clinvar 		105415200 5757.98 G C PASS 0/1 477 SYNONYMOUS_CODING LOW None 0.28994 0.28990 0.37128 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs10145032
dbSNP Clinvar 		105414810 13822.4 C G PASS 1/1 465 SYNONYMOUS_CODING LOW None 0.53235 0.53230 0.43901 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs2582513
dbSNP Clinvar 		105414790 13427.1 A G PASS 1/1 480 NON_SYNONYMOUS_CODING MODERATE None 0.56310 0.56310 0.41529 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs72702027
dbSNP Clinvar 		105414629 10500.9 G A PASS 1/1 570 NON_SYNONYMOUS_CODING MODERATE None 0.53195 0.53190 0.43679 0.80 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs2819429
dbSNP Clinvar 		105414280 10224.5 T G PASS 1/1 473 NON_SYNONYMOUS_CODING MODERATE None 0.84325 0.84330 0.10362 0.25 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs60106058
dbSNP Clinvar 		105414252 13405.9 C T PASS 1/1 462 SYNONYMOUS_CODING LOW None 0.45487 0.45490 0.47157 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs60754080
dbSNP Clinvar 		105414238 14029.5 C A PASS 1/1 481 NON_SYNONYMOUS_CODING MODERATE None 0.48023 0.48020 0.44926 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs11848564
dbSNP Clinvar 		105413790 6821.31 G A PASS 1/1 452 SYNONYMOUS_CODING LOW None 0.35044 0.35040 0.48287 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs55797226
dbSNP Clinvar 		105413223 12042.0 A G PASS 1/1 478 SYNONYMOUS_CODING LOW None 0.52716 0.52720 0.44573 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs3742935
dbSNP Clinvar 		105405599 1522.13 G C PASS 1/1 176 NON_SYNONYMOUS_CODING MODERATE None 0.55511 0.55510 0.41569 0.73 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs2582514
dbSNP Clinvar 		105413204 12070.1 G T PASS 1/1 459 NON_SYNONYMOUS_CODING MODERATE None 0.56709 0.56710 0.40549 0.01 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 . 105410492 7451.0 G A PASS 0/1 706 SYNONYMOUS_CODING LOW None None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs79003030
dbSNP Clinvar 		105415422 8889.05 G A PASS 1/1 306 SYNONYMOUS_CODING LOW None 0.27436 0.27440 0.16623 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs201434975
dbSNP Clinvar 		105413143 557.84 G A PASS 0/1 481 NON_SYNONYMOUS_CODING MODERATE None 0.01 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs200865013
dbSNP Clinvar 		105413142 557.84 T C PASS 0/1 481 SYNONYMOUS_CODING LOW None None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs28454709
dbSNP Clinvar 		105405942 2598.63 G A PASS 1/1 179 SYNONYMOUS_CODING LOW None 0.55491 0.55490 0.41459 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs2819419
dbSNP Clinvar 		105406238 2577.19 A C PASS 1/1 174 NON_SYNONYMOUS_CODING MODERATE None 0.59086 0.59090 0.38914 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs577072628
dbSNP Clinvar 		105413058 648.09 A G PASS 0/1 499 SYNONYMOUS_CODING LOW None 0.00160 0.00160 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs554150808
dbSNP Clinvar 		105413057 636.05 G T PASS 0/1 501 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 0.32 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs752415528
dbSNP Clinvar 		105413042 144.4 T C PASS 0/1 467 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs755431279
dbSNP Clinvar 		105413040 120.48 T C DRAGENHardSNP 0/1 464 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs61421370
dbSNP Clinvar 		105406372 2152.87 C T PASS 1/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.29313 0.29310 0.42651 0.04 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs11623422
dbSNP Clinvar 		105407031 1810.8 A G PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.55491 0.55490 0.41700 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs3000771
dbSNP Clinvar 		105412561 5607.96 C T PASS 1/1 201 NON_SYNONYMOUS_CODING MODERATE None 0.01 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs12436986
dbSNP Clinvar 		105412554 5393.39 T G PASS 1/1 181 SYNONYMOUS_CODING LOW None 0.51498 0.51500 0.29044 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs12433815
dbSNP Clinvar 		105412542 5013.42 A G PASS 1/1 190 SYNONYMOUS_CODING LOW None 0.51757 0.51760 0.26062 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs11851053
dbSNP Clinvar 		105407208 1028.78 T C PASS 1/1 88 SYNONYMOUS_CODING LOW None 0.55491 0.55490 0.41696 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs12433837
dbSNP Clinvar 		105412541 4971.43 C T PASS 1/1 197 NON_SYNONYMOUS_CODING MODERATE None 0.51857 0.51860 0.26354 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs201181175
dbSNP Clinvar 		105412163 833.01 C G PASS 1/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.12 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs4465542
dbSNP Clinvar 		105407798 1886.5 T C PASS 1/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.55511 0.55510 0.41678 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs150617757
dbSNP Clinvar 		105415541 6895.63 T C PASS 0/1 363 NON_SYNONYMOUS_CODING MODERATE None 0.06130 0.06130 0.08103 0.91 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs9671643
dbSNP Clinvar 		105408030 8417.82 A G PASS 1/1 450 SYNONYMOUS_CODING LOW None 0.55551 0.55550 0.41507 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs200384326
dbSNP Clinvar 		105412138 1249.27 A G PASS 1/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs77154428
dbSNP Clinvar 		105412066 314.9 C T PASS 1/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.01 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs9672139
dbSNP Clinvar 		105408182 9177.76 T G PASS 1/1 526 NON_SYNONYMOUS_CODING MODERATE None 0.52756 0.52760 0.44488 0.01 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs28600075
dbSNP Clinvar 		105408315 7623.29 T C PASS 1/1 436 SYNONYMOUS_CODING LOW None 0.55551 0.55550 0.41384 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs2819421
dbSNP Clinvar 		105408811 13191.3 A G PASS 1/1 550 NON_SYNONYMOUS_CODING MODERATE None 0.55511 0.55510 0.41776 0.01 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs11850949
dbSNP Clinvar 		105408827 13859.6 A C PASS 1/1 560 NON_SYNONYMOUS_CODING MODERATE None 0.53075 0.53080 0.43830 0.05 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs2819422
dbSNP Clinvar 		105408955 9909.74 A G PASS 1/1 617 NON_SYNONYMOUS_CODING MODERATE None 0.58067 0.58070 0.39517 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs10141053
dbSNP Clinvar 		105409907 7724.37 T C PASS 0/1 441 NON_SYNONYMOUS_CODING MODERATE None 0.24581 0.24580 0.37089 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs10438246
dbSNP Clinvar 		105410183 8241.56 T C PASS 1/1 531 NON_SYNONYMOUS_CODING MODERATE None 0.55591 0.55590 0.41195 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs28714612
dbSNP Clinvar 		105412009 437.98 A G PASS 1/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.38518 0.38520 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs28564728
dbSNP Clinvar 		105412005 420.73 A G PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.37280 0.37280 0.27296 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs151023874
dbSNP Clinvar 		105410295 6686.81 G C PASS 0/1 522 SYNONYMOUS_CODING LOW None 0.00399 0.00399 0.00552 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs201817721
dbSNP Clinvar 		105410382 1582.17 T C PASS 0/1 637 SYNONYMOUS_CODING LOW None 0.02356 0.02356 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs553656839
dbSNP Clinvar 		105410383 1582.17 T C PASS 0/1 639 NON_SYNONYMOUS_CODING MODERATE None 0.00180 0.00180 0.98 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs28737397
dbSNP Clinvar 		105411971 1241.64 T C PASS 1/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.26158 0.26160 0.04490 0.28 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs11160825
dbSNP Clinvar 		105410411 8750.78 C T PASS 0/1 688 NON_SYNONYMOUS_CODING MODERATE None 0.54972 0.54970 0.41916 0.98 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs373797895
dbSNP Clinvar 		105411957 1472.68 G A PASS 1/1 94 SYNONYMOUS_CODING LOW None None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs10438247
dbSNP Clinvar 		105411781 9153.68 G A PASS 1/1 573 NON_SYNONYMOUS_CODING MODERATE None 0.53854 0.53850 0.42047 1.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs200284292
dbSNP Clinvar 		105410417 2551.68 G A PASS 0/1 703 SYNONYMOUS_CODING LOW None 0.03534 0.03534 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs4264326
dbSNP Clinvar 		105411700 9664.73 A G PASS 1/1 652 NON_SYNONYMOUS_CODING MODERATE None 0.56350 0.56350 0.40369 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs201263008
dbSNP Clinvar 		105415497 881.29 T C PASS 0/1 318 SYNONYMOUS_CODING LOW None 0.06135 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs201237638
dbSNP Clinvar 		105410435 2319.04 G A PASS 0/1 743 SYNONYMOUS_CODING LOW None 0.03614 0.03614 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs760792869
dbSNP Clinvar 		105410460 1962.05 T C PASS 0/1 744 SYNONYMOUS_CODING LOW None None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs11846918
dbSNP Clinvar 		105415469 10603.5 T C PASS 1/1 338 NON_SYNONYMOUS_CODING MODERATE None 0.44808 0.44810 0.31536 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs34499888
dbSNP Clinvar 		105411153 8133.29 G A PASS 0/1 503 SYNONYMOUS_CODING LOW None 0.24062 0.24060 0.37356 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs771414548
dbSNP Clinvar 		105410461 1917.05 G C PASS 0/1 745 NON_SYNONYMOUS_CODING MODERATE None 0.83 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs28380382
dbSNP Clinvar 		105410827 9991.56 C T PASS 1/1 619 NON_SYNONYMOUS_CODING MODERATE None 0.55252 0.55250 0.41489 1.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs2819424
dbSNP Clinvar 		105410775 10301.8 A G PASS 1/1 649 SYNONYMOUS_CODING LOW None 0.58586 0.58590 0.39270 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs777192686
dbSNP Clinvar 		105410463 1836.08 G A PASS 0/1 738 SYNONYMOUS_CODING LOW None None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs201988473
dbSNP Clinvar 		105415551 2698.68 C G PASS 0/1 363 NON_SYNONYMOUS_CODING MODERATE None 0.04673 0.04673 0.00 None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs375265904
dbSNP Clinvar 		105415577 1324.72 G A PASS 0/1 329 SYNONYMOUS_CODING LOW None None None None None None None AHNAK2|0.000253171|99.62%
View combined sample_46.variant10 14 rs768145521
dbSNP Clinvar 		105415587 1043.19 G A PASS 0/1 312 SYNONYMOUS_CODING LOW None None None None None None None AHNAK2|0.000253171|99.62%