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+ Genes 268

Genes:
AC002472.13, AC006547.14, AC006946.15, AC008132.13, ACO2, ACR, ADM2, ADORA2A, AIFM3, ALG12, AP1B1, APOBEC3B, APOBEC3F, APOBEC3H, APOL1, APOL2, APOL3, APOL4, APOL5, ARFGAP3, ARHGAP8, ARSA, ARVCF, ASCC2, ATP6V1E1, ATXN10, BAIAP2L2, BCL2L13, BCR, BID, BPIFC, C1QTNF6, C22orf23, C22orf24, C22orf26, C22orf31, C22orf34, C22orf42, C22orf43, C22orf46, CABIN1, CACNA1I, CARD10, CBY1, CCDC116, CCDC157, CCT8L2, CDC42EP1, CECR1, CECR2, CECR5, CECR6, CELSR1, CENPM, CHCHD10, CLDN5, CLTCL1, COMT, CPT1B, CRYBA4, CSF2RB, CTA-299D3.8, CYB5R3, CYP2D6, CYP2D7P, CYTH4, DEPDC5, DERL3, DGCR2, DNAL4, EFCAB6, EIF3D, EIF4ENIF1, ELFN2, EP300, FAM118A, FAM19A5, FAM211B, FAM230A, FBLN1, FBXO7, FLJ27365, FOXRED2, GAB4, GAL3ST1, GALR3, GAS2L1, GCAT, GGT1, GGT2, GGTLC2, GNAZ, GRAMD4, GSTT2, GTSE1, HDAC10, HIC2, HMGXB4, HMOX1, HPS4, IGLC3, IGLJ3, IGLJ5, IGLJ7, IGLV1-47, IGLV10-54, IGLV11-55, IGLV2-23, IGLV3-25, IGLV4-60, IGLV4-69, IGLV5-37, IGLV5-45, IGLV5-48, IGLV6-57, IGLV7-46, IGLV9-49, IL17RA, IL17REL, IL2RB, INPP5J, ISX, KCNJ4, KCTD17, KDELR3, KIAA0930, KIAA1644, KIAA1671, KLHDC7B, KREMEN1, L3MBTL2, LARGE, LIMK2, LL22NC03-75H12.2, LMF2, LRP5L, LZTR1, MAPK11, MAPK12, MAPK8IP2, MB, MCHR1, MCM5, MED15, MEI1, MICAL3, MIOX, MKL1, MMP11, MN1, MOV10L1, MPPED1, MYH9, MYO18B, NAGA, NCF4, NDUFA6, NEFH, NPTXR, ODF3B, OSBP2, P2RX6, PACSIN2, PANX2, PARVB, PARVG, PATZ1, PEX26, PHF21B, PI4KA, PIK3IP1, PIM3, PIWIL3, PKDREJ, PLA2G3, PLA2G6, PLXNB2, PNPLA3, PNPLA5, POLDIP3, POM121L7, POTEH, PPIL2, PPM1F, PPP6R2, PRAME, PRODH, PRR5, RAB36, RANGAP1, RASD2, RBFOX2, RFPL1, RFPL2, RFPL3, RGL4, RHBDD3, RIBC2, RIMBP3, RIMBP3B, RNF215, RP1-32I10.10, RPL3, RRP7A, RTDR1, SAMM50, SBF1, SCARF2, SCO2, SCUBE1, SEC14L2, SEC14L3, SEC14L6, SELO, SERPIND1, SEZ6L, SFI1, SHANK3, SLC16A8, SLC35E4, SLC7A4, SMARCB1, SMC1B, SMTN, SNAP29, SNRPD3, SOX10, SPECC1L, SRRD, SUN2, SUSD2, SYNGR1, TBX1, TCF20, TCN2, TEX33, TFIP11, THAP7, THOC5, TIMP3, TMPRSS6, TNRC6B, TOB2, TOP3B, TPST2, TRIOBP, TSPO, TTC38, TTLL1, TTLL12, TTLL8, TUBGCP6, TXNRD2, TYMP, UPB1, UPK3A, UQCR10, USP41, WBP2NL, XBP1, XKR3, XRCC6, YDJC, ZBED4, ZNF280A, ZNF280B, ZNF70, ZNRF3,

+ Genes associated with diseases 62

Genes at Omim

ACO2, ACR, ALG12, APOL1, APOL2, APOL4, ARSA, ATP6V1E1, ATXN10, BCR, CHCHD10, COMT, CRYBA4, CSF2RB, CYB5R3, CYP2D6, DEPDC5, DGCR2, DNAL4, EP300, FBLN1, FBXO7, GGT1, GGT2, HMOX1, HPS4, IL17RA, KCTD17, KREMEN1, LARGE, LZTR1, MCM5, MKL1, MN1, MYH9, MYO18B, NAGA, NCF4, NDUFA6, NEFH, PEX26, PI4KA, PLA2G6, PRODH, SBF1, SCARF2, SCO2, SHANK3, SMARCB1, SNAP29, SOX10, SPECC1L, TBX1, TCN2, TIMP3, TMPRSS6, TRIOBP, TUBGCP6, TXNRD2, TYMP, UPB1, XBP1,
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)
ATP6V1E1 Cutis laxa, autosomal recessive, type IIC, 617402 (3)
ATXN10 Spinocerebellar ataxia 10, 603516 (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)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CRYBA4 Cataract 23, 610425 (3)
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5, 614370 (3)
CYB5R3 Methemoglobinemia, type I, 250800 (3)
Methemoglobinemia, type II, 250800 (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)
HMOX1 Heme oxygenase-1 deficiency, 614034 (3)
{Pulmonary disease, chronic obstructive, susceptibility to}, 606963 (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)
MCM5 ?Meier-Gorlin syndrome 8, 617564 (3)
MKL1 Megakaryoblastic leukemia, acute (3)
MN1 Meningioma, 607174 (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)
PEX26 Peroxisome biogenesis disorder 7A (Zellweger), 614872 (3)
Peroxisome biogenesis disorder 7B, 614873 (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)
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)
SHANK3 {Schizophrenia 15}, 613950 (3)
Phelan-McDermid syndrome, 606232 (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)
TBX1 Conotruncal anomaly face syndrome, 217095 (3)
DiGeorge syndrome, 188400 (3)
Tetralogy of Fallot, 187500 (3)
Velocardiofacial syndrome, 192430 (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)
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)
XBP1 {Major affective disorder-7, susceptibility to}, 612371 (3)

Genes at Clinical Genomics Database

ACO2, ALG12, ARSA, ATXN10, BCR, CECR1, CHCHD10, COMT, CRYBA4, CSF2RB, CYB5R3, CYP2D6, DEPDC5, DGCR2, DNAL4, EP300, FBLN1, FBXO7, HMOX1, HPS4, IL17RA, KCTD17, LARGE, LZTR1, MN1, MYH9, MYO18B, NAGA, NCF4, NEFH, PEX26, PI4KA, PLA2G6, PRODH, SBF1, SCARF2, SCO2, SERPIND1, SHANK3, SMARCB1, SNAP29, SOX10, SPECC1L, TBX1, TCN2, TIMP3, TMPRSS6, TRIOBP, TUBGCP6, TYMP, UPB1, UPK3A,
ACO2 Infantile cerebellar-retinal degeneration
Optic atrophy 9
ALG12 Congenital disorder of glycosylation, type Ig
ARSA Metachromatic leukodystrophy
ATXN10 Spinocerebellar ataxia 10
BCR CML treatment, response to
CECR1 Polyarteritis nodosa, childhood-onset (ADA2 deficiency)
Sneddon syndrome
CHCHD10 Myopathy, isolated mitochondrial, autosomal dominant
COMT Medication response, association with
CRYBA4 Cataract 23
CSF2RB Surfactant metabolism dysfunction, pulmonary, 5
CYB5R3 Methemoglobinemia due to methemoglobin reductase deficiency
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
HMOX1 Heme oxygenase 1 deficiency
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
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
PEX26 Peroxisome biogenesis factor disorder, 26
Adrenoleukodystrophy, neonatal
Refsum disease, infantile
Zellweger syndrome
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
SERPIND1 Heparin cofactor II deficiency
SHANK3 Phelan-McDermid syndrome
Schizophrenia
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
TBX1 Conotruncal anomaly face syndrome
Tetralogy of Fallot
TCN2 Transcobalamin II deficiency
TIMP3 Sorsby fundus dystrophy
TMPRSS6 Iron-refractory iron deficiency anemia
TRIOBP Deafness, autosomal recessive 28
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: 3968
Number of Genes: 268

Export to: CSV
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_51.variant15 22 rs200815903
dbSNP Clinvar 		17183025 508.9 G A PASS 0/1 51 None None None None None None None None None None
View combined sample_51.variant15 22 rs766349174
dbSNP Clinvar 		16157951 140.9 A G DRAGENHardSNP 0/1 20 None None None None None None None None None None

C1QTNF6
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_51.variant15 22 rs229527
dbSNP Clinvar 		37581485 1723.54 C A PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.45008 0.45010 0.39636 0.12 0.77 None None None None None None C1QTNF6|0.040924441|65.44%
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_51.variant15 22 rs200462164
dbSNP Clinvar 		17183103 447.28 C T PASS 0/1 36 None None None None None None None None None None
View combined sample_51.variant15 22 . 17690779 52.42 ATT AT... PASS 0/2 20 None None None None None None None None None CECR1|0.005555604|85.15%
View combined sample_51.variant15 22 rs11089399
dbSNP Clinvar 		16914189 43.4 A G PASS 0/1 47 None None None None None None None None None None
View combined sample_51.variant15 22 . 16914190 55.31 G T PASS 0/1 45 None None None None None None None None None None
View combined sample_51.variant15 22 rs28662084
dbSNP Clinvar 		16914195 64.32 A G PASS 0/1 41 None None None None None None None None None None
View combined sample_51.variant15 22 rs11089401
dbSNP Clinvar 		16914261 36.67 G C PASS 0/1 17 None None None None None None None None None None
View combined sample_51.variant15 22 rs375786598
dbSNP Clinvar 		28202319 774.74 C CA... PASS 0/3 42 None None None None None None None None None None
View combined sample_51.variant15 22 . 37887751 179.96 A C PASS 0/1 70 None None None None None None None None None CARD10|0.081670514|54.84%
View combined sample_51.variant15 22 . 37887755 149.92 A C PASS 0/1 72 None None None None None None None None None CARD10|0.081670514|54.84%
View combined sample_51.variant15 22 . 37887758 136.91 T C PASS 0/1 69 None None None None None None None None None CARD10|0.081670514|54.84%
View combined sample_51.variant15 22 . 37887760 121.25 A C PASS 0/1 70 None None None None None None None None None CARD10|0.081670514|54.84%
View combined sample_51.variant15 22 rs573197165
dbSNP Clinvar 		18043325 380.37 G A PASS 0/1 30 None None None None None None None None None SLC25A18|0.018312946|75.08%
View combined sample_51.variant15 22 rs76749047
dbSNP Clinvar 		30781774 38.17 CA C PASS 0/1 29 None None None None None None None None None RNF215|0.035503512|67.31%
View combined sample_51.variant15 22 rs143929428,rs59571998
dbSNP Clinvar 		38169992 231.76 T TA... PASS 1/1 21 None None None None None None None None None TRIOBP|0.083019472|54.57%
View combined sample_51.variant15 22 rs72490655
dbSNP Clinvar 		21045405 183.4 A G PASS 0/1 148 None None None None None None None None None None
View combined sample_51.variant15 22 rs78600721
dbSNP Clinvar 		21045443 30.2 C T PASS 0/1 149 None None None None None None None None None None
View combined sample_51.variant15 22 rs199638851
dbSNP Clinvar 		21045452 125.38 C T PASS 0/1 147 None None None None None None None None None None
View combined sample_51.variant15 22 rs750643673
dbSNP Clinvar 		22707349 179.46 C A PASS 0/1 113 None None None None None None None None None None
View combined sample_51.variant15 22 rs866222992
dbSNP Clinvar 		39218068 304.69 G C PASS 0/1 30 None None None None None None None None None NPTXR|0.286215395|28.64%
View combined sample_51.variant15 22 rs763007925
dbSNP Clinvar 		22707351 176.45 G C PASS 0/1 114 None None None None None None None None None None
View combined sample_51.variant15 22 rs5748823
dbSNP Clinvar 		16914274 138.32 T A PASS 1/1 12 None None None None None None None None None None
View combined sample_51.variant15 22 rs11089402
dbSNP Clinvar 		16914293 35.96 G A PASS 0/1 9 None None None None None None None None None None
View combined sample_51.variant15 22 rs4010323
dbSNP Clinvar 		16967983 927.57 T C PASS 0/1 33 None None None None None None None None None None
View combined sample_51.variant15 22 rs4010325
dbSNP Clinvar 		16968203 224.46 A C PASS 0/1 70 None None None None None None None None None None
View combined sample_51.variant15 22 rs376648586
dbSNP Clinvar 		22707361 147.84 T C PASS 0/1 126 None None None None None None None None None None
View combined sample_51.variant15 22 rs765563634
dbSNP Clinvar 		22707366 114.73 C A PASS 0/1 140 None None None None None None None None None None
View combined sample_51.variant15 22 rs879082499
dbSNP Clinvar 		22707367 72.74 A C PASS 0/1 141 None None None None None None None None None None
View combined sample_51.variant15 22 rs553748540
dbSNP Clinvar 		22707369 75.75 A T PASS 0/1 144 None None None 0.00020 None None None None None None None
View combined sample_51.variant15 22 rs372526196
dbSNP Clinvar 		22730436 150.7 T A PASS 0/1 142 None None None None None None None None None None
View combined sample_51.variant15 22 rs375107958
dbSNP Clinvar 		22730439 138.66 A G PASS 0/1 147 None None None None None None None None None None
View combined sample_51.variant15 22 rs368030178
dbSNP Clinvar 		22730441 132.64 T C PASS 0/1 153 None None None 0.00040 None None None None None None None
View combined sample_51.variant15 22 rs371745029
dbSNP Clinvar 		22730443 162.59 C A PASS 0/1 156 None None None None None None None None None None
View combined sample_51.variant15 22 rs374732725
dbSNP Clinvar 		22730445 201.57 G C PASS 0/1 159 None None None None None None None None None None
View combined sample_51.variant15 22 rs369028307
dbSNP Clinvar 		22730455 66.57 T C PASS 0/1 188 None None None None None None None None None None
View combined sample_51.variant15 22 rs67930564
dbSNP Clinvar 		22730458 82.94 GC G PASS 0/1 194 None None None None None None None None None None
View combined sample_51.variant15 22 rs374840879
dbSNP Clinvar 		22730463 122.73 C CT PASS 0/1 208 None None None None None None None None None None
View combined sample_51.variant15 22 rs71326743,rs542924634
dbSNP Clinvar 		39419112 48.41 CTATT CT... PASS 0/1 5 None None None None None None None None None APOBEC3D|0.000290532|99.46%
View combined sample_51.variant15 22 rs78704796
dbSNP Clinvar 		20657742 232.58 C A PASS 0/1 15 None None None None None None None None None None
View combined sample_51.variant15 22 rs79496019
dbSNP Clinvar 		20657752 322.58 G T PASS 0/1 12 None None None None None None None None None None
View combined sample_51.variant15 22 rs201436520
dbSNP Clinvar 		16968311 810.61 T C PASS 0/1 103 None None None 0.09125 0.09125 None None None None None None None
View combined sample_51.variant15 22 . 20657761 361.56 AAG AT... PASS 0/2 12 None None None None None None None None None None
View combined sample_51.variant15 22 . 20657765 85.32 A AGACC PASS 0/1 10 None None None None None None None None None None
View combined sample_51.variant15 22 . 20657767 637.66 AGG CGG,A PASS 0/2 9 None None None None None None None None None None
View combined sample_51.variant15 22 rs12484321
dbSNP Clinvar 		16968330 252.08 G T PASS 0/1 110 None None None None None None None None None None
View combined sample_51.variant15 22 rs199674018
dbSNP Clinvar 		16968369 1010.61 A T PASS 0/1 116 None None None 0.09125 0.09125 0.80 0.00 0.09477 T None None None None None
View combined sample_51.variant15 22 rs12172402
dbSNP Clinvar 		18668702 655.98 C T PASS 1/1 64 None None None None None None None None None None
View combined sample_51.variant15 22 rs62229556
dbSNP Clinvar 		18668752 1879.35 G A PASS 0/1 171 None None None None None None None None None None
View combined sample_51.variant15 22 . 18685215 61.77 T G PASS 1/1 2 None None None None None None None None None None
View combined sample_51.variant15 22 . 18685225 61.77 G A PASS 1/1 2 None None None None None None None None None None
View combined sample_51.variant15 22 . 18685245 61.77 A G PASS 1/1 2 None None None None None None None None None None
View combined sample_51.variant15 22 . 18685255 41.5 T C PASS 1/1 2 None None None None None None None None None None
View combined sample_51.variant15 22 . 18685260 41.5 G A,C PASS 1/1 3 None None None None None None None None None None
View combined sample_51.variant15 22 . 18685273 61.77 C G PASS 1/1 3 None None None None None None None None None None
View combined sample_51.variant15 22 . 18685282 61.77 A G,C PASS 1/1 3 None None None None None None None None None None
View combined sample_51.variant15 22 rs11914011
dbSNP Clinvar 		18685296 131.49 C T PASS 1/1 3 None None None None None None None None None None
View combined sample_51.variant15 22 rs867244145
dbSNP Clinvar 		18737033 342.97 G A PASS 1/1 9 None None None None None None None None None None
View combined sample_51.variant15 22 rs879123244
dbSNP Clinvar 		18766302 113.79 G A DRAGENHardSNP 0/1 17 None None None None None None None None None None
View combined sample_51.variant15 22 rs201821925
dbSNP Clinvar 		16968511 569.87 T C PASS 0/1 53 None None None 0.09125 0.09125 None None None None None None None
View combined sample_51.variant15 22 rs4010265
dbSNP Clinvar 		16988977 92.52 A G PASS 1/1 10 None None None None None None None None None None
View combined sample_51.variant15 22 rs199524818
dbSNP Clinvar 		18766947 199.05 C G,T DRAGENHardSNP 0/1 33 None None None 0.00100 0.00100 None None None None None None None
View combined sample_51.variant15 22 rs62229896
dbSNP Clinvar 		18767057 238.63 A G DRAGENHardSNP 0/1 43 None None None None None None None None None None
View combined sample_51.variant15 22 rs62229897
dbSNP Clinvar 		18767059 238.63 T C DRAGENHardSNP 0/1 41 None None None None None None None None None None
View combined sample_51.variant15 22 rs878905423
dbSNP Clinvar 		20749051 147.87 CT C,... PASS 0/3 50 None None None None None None None None None ZNF74|0.004649939|86.28%
View combined sample_51.variant15 22 rs796645884
dbSNP Clinvar 		22730498 316.26 G A PASS 0/1 292 None None None None None None None None None None
View combined sample_51.variant15 22 rs9606617
dbSNP Clinvar 		17594472 191.5 G A PASS 0/1 56 None None None 0.15974 0.15970 None None None None None None IL17RA|0.005708246|84.96%
View combined sample_51.variant15 22 rs796186924
dbSNP Clinvar 		22730513 203.7 G C PASS 0/1 335 None None None None None None None None None None
View combined sample_51.variant15 22 rs201907120
dbSNP Clinvar 		21045582 3167.68 C T PASS 0/1 306 None None None 0.00280 0.00280 None None None None None None None
View combined sample_51.variant15 22 rs746037953
dbSNP Clinvar 		22730514 203.7 G C PASS 0/1 335 None None None None None None None None None None
View combined sample_51.variant15 22 rs1062731
dbSNP Clinvar 		28248840 3617.15 C T PASS 0/1 387 None None None None None None None None None PITPNB|0.607508911|11.53%
View combined sample_51.variant15 22 rs730647
dbSNP Clinvar 		28250810 1105.29 C T PASS 0/1 104 None None None None None None None None None PITPNB|0.607508911|11.53%
View combined sample_51.variant15 22 rs766632406
dbSNP Clinvar 		29240444 299.8 GA... GG... PASS 0/2 26 None None None None None None None None None None
View combined sample_51.variant15 22 rs146772100
dbSNP Clinvar 		29240464 896.53 A G PASS 0/1 22 None None None None None None None None None None
View combined sample_51.variant15 22 rs143661813
dbSNP Clinvar 		18767081 244.62 G A DRAGENHardSNP 0/1 30 None None None 0.00040 0.00040 None None None None None None None
View combined sample_51.variant15 22 rs11702918
dbSNP Clinvar 		17594623 987.29 C T PASS 0/1 94 None None None 0.11342 0.11340 None None None None None None IL17RA|0.005708246|84.96%
View combined sample_51.variant15 22 rs369840003
dbSNP Clinvar 		18836085 275.75 T A DRAGENHardSNP 0/1 144 None None None None None None None None None None
View combined sample_51.variant15 22 rs5747857
dbSNP Clinvar 		18842290 131.49 C T PASS 0/1 67 None None None None None None None None None None
View combined sample_51.variant15 22 rs11703539
dbSNP Clinvar 		17594755 1636.89 G A PASS 0/1 159 None None None 0.09844 0.09844 None None None None None None IL17RA|0.005708246|84.96%
View combined sample_51.variant15 22 rs5742571
dbSNP Clinvar 		18842353 136.51 G A PASS 0/1 223 None None None None None None None None None None
View combined sample_51.variant15 22 rs9604886
dbSNP Clinvar 		18842438 2913.09 G A PASS 0/1 516 None None None None None None None None None None
View combined sample_51.variant15 22 rs200220455
dbSNP Clinvar 		18880442 36.17 T C PASS 0/1 37 None None None 0.00080 None None None None None None None
View combined sample_51.variant15 22 rs917865
dbSNP Clinvar 		17565974 3210.29 G C PASS 1/1 327 None None None 0.77476 0.77480 None None None None None None IL17RA|0.005708246|84.96%
View combined sample_51.variant15 22 rs4643631
dbSNP Clinvar 		16159060 473.68 G A PASS 1/1 37 None None None 0.85124 0.85120 None None None None None None None
View combined sample_51.variant15 22 rs149773035
dbSNP Clinvar 		16255891 783.94 G A DRAGENHardSNP 0/1 136 None None None None None None None None None None
View combined sample_51.variant15 22 rs2212142
dbSNP Clinvar 		16277923 70.04 T G PASS 1/1 4 None None None None None None None None None POTEH|0.00123995|94.24%
View combined sample_51.variant15 22 rs4008588
dbSNP Clinvar 		17054103 888.0 G A PASS 0/1 52 None None None 0.13758 0.13760 None None None None None None None
View combined sample_51.variant15 22 rs201944459
dbSNP Clinvar 		16279319 1694.95 GC... G PASS 0/1 205 None None None 0.21126 0.21130 None None None None None None POTEH|0.00123995|94.24%
View combined sample_51.variant15 22 rs11089398
dbSNP Clinvar 		16914176 31.38 C T PASS 0/1 50 None None None None None None None None None None
View combined sample_51.variant15 22 rs796663191
dbSNP Clinvar 		16157496 543.41 A G DRAGENHardSNP 1/1 5 None None None None None None None None None None
View combined sample_51.variant15 22 rs370790235
dbSNP Clinvar 		16157603 1289.59 G C DRAGENHardSNP 1/1 22 None None None None None None None None None None
View combined sample_51.variant15 22 rs374192809
dbSNP Clinvar 		16157622 1695.26 G C DRAGENHardSNP 1/1 19 None None None 0.61222 0.61220 None None None None None None None
View combined sample_51.variant15 22 rs373638938
dbSNP Clinvar 		16157648 1178.03 CCTT C PASS 1/1 14 None None None None None None None None None None
View combined sample_51.variant15 22 rs781042121
dbSNP Clinvar 		16157771 69.98 C A DRAGENHardSNP 0/1 24 None None None None None None None None None None
View combined sample_51.variant15 22 rs368849066
dbSNP Clinvar 		16157883 1410.81 T C DRAGENHardSNP 0/1 65 None None None None None None None None None None
View combined sample_51.variant15 22 rs770027687
dbSNP Clinvar 		16157913 860.48 T G DRAGENHardSNP 0/1 48 None None None None None None None None None None

POTEH
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_51.variant15 22 rs201840700
dbSNP Clinvar 		16287372 775.08 C T PASS 0/1 329 NON_SYNONYMOUS_CODING MODERATE None 0.02622 0.66 0.02 None None None None None None POTEH|0.00123995|94.24%
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_51.variant15 22 rs2520624
dbSNP Clinvar 		16353399 1207.56 C G DRAGENHardSNP 0/1 99 None None None None None None None None None None
View combined sample_51.variant15 22 rs2530274
dbSNP Clinvar 		16353491 1262.51 A G DRAGENHardSNP 0/1 117 None None None None None None None None None None