+ Filter Options

SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
 CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

+ Genes 440

Genes:
AADAT, AASDH, ABLIM2, AC021860.1, AC068620.1, AC079341.1, AC093323.1, AC093677.1, AC097381.1, ACOX3, ACSL1, ADAMTS3, ADH1B, ADH1C, ADH4, ADH5, ADH6, AFAP1, AFM, AFP, AGA, ALB, ALPK1, AMBN, AMTN, ANK2, ANKRD17, ANKRD37, ANKRD50, ANTXR2, ANXA10, AP001816.1, APBB2, ARAP2, ARHGAP10, ARHGAP24, ARHGEF38, ARSJ, ASB5, ASIC5, ATP10D, ATP8A1, BANK1, BBS12, BMP2K, BMP3, BOD1L1, BST1, BTC, C4orf17, C4orf19, C4orf21, C4orf22, C4orf27, C4orf32, C4orf33, C4orf36, C4orf45, C4orf48, C4orf50, CABS1, CBR4, CC2D2A, CCDC109B, CCDC110, CCDC158, CCDC96, CCNA2, CCNG2, CCNI, CD38, CDS1, CEP44, CFI, CHRNA9, CLCN3, CLDN24, CLGN, CLNK, CLOCK, CLRN2, CNOT6L, COL25A1, COQ2, CORIN, COX18, CPE, CPEB2, CPZ, CRIPAK, CRMP1, CSN1S1, CSN2, CSN3, CWH43, CXCL1, CXCL5, CYP4V2, CYTL1, DAPP1, DCAF4L1, DCHS2, DCLK2, DCTD, DCUN1D4, DDIT4L, DDX60, DDX60L, DGKQ, DKK2, DMP1, DOK7, DRD5, DSPP, DTHD1, EDNRA, EGF, ELF2, ENAM, ENOPH1, ENPEP, ENPP6, EPHA5, EREG, ERVMER34-1, ETFDH, EVC, EVC2, EXOC1, F11, FABP2, FAM114A1, FAM149A, FAM160A1, FAM175A, FAM184B, FAM198B, FAM200B, FAM218A, FAM47E, FAM53A, FAT1, FAT4, FBXL5, FBXO8, FGB, FGF5, FGFBP1, FGFBP2, FGFR3, FGFRL1, FHDC1, FRAS1, FREM3, FRG1, FRYL, FSTL5, GAB1, GABRA2, GABRB1, GABRG1, GAK, GALNTL6, GAR1, GBA3, GC, GLRA3, GLRB, GPR125, GPR78, GPRIN3, GRID2, GRK4, GRSF1, GRXCR1, GSX2, GUCY1A3, GUCY1B3, GUF1, GYPB, HADH, HAUS3, HELQ, HERC3, HERC5, HERC6, HGFAC, HMX1, HOPX, HPSE, HSD17B11, HTN3, HTT, IBSP, IDUA, IL21, ING2, INPP4B, INTS12, INTU, KCNIP4, KDR, KIAA0922, KIAA1109, KIAA1211, KIAA1239, KIAA1430, KIT, KLB, KLF3, KLHL2, KLHL5, KLKB1, LAP3, LARP1B, LCORL, LDB2, LETM1, LGI2, LIAS, LIMCH1, LIN54, LINC00955, LNX1, LPHN3, LRBA, LRIT3, LRP2BP, LYAR, MAEA, MAML3, MAN2B2, MANBA, MED28, MEPE, MMRN1, MND1, MTTP, MXD4, MYL5, N4BP2, NAAA, NAF1, NCAPG, NDNF, NDST3, NDST4, NEIL3, NEK1, NEUROG2, NFKB1, NFXL1, NKX1-1, NKX3-2, NOA1, NPNT, NPY5R, NR3C2, NSUN7, NUDT6, NUP54, ODAM, OTOP1, PABPC4L, PALLD, PAPSS1, PARM1, PCDH10, PCDH18, PCGF3, PDE5A, PDE6B, PDGFRA, PDLIM3, PDLIM5, PDS5A, PHOX2B, PI4K2B, PIGG, PKD2, PLK4, PLRG1, POLN, POLR2B, POU4F2, PPA2, PPARGC1A, PPAT, PPEF2, PPP2R2C, PPP3CA, PRDM5, PRDM8, PRIMPOL, PRKG2, PRMT10, PROM1, PRSS12, PRSS48, PSAPL1, PTPN13, PTTG2, QDPR, QRFPR, RAPGEF2, RBM46, RBM47, RBPJ, RFC1, RGS12, RNF175, RNF212, RP11-171N4.2, RP11-455G16.1, RP11-503N18.3, RP11-62N21.1, RP11-763F8.1, RP11-766F14.2, RPL9, RWDD4, RXFP1, S100P, SCD5, SCFD2, SCLT1, SCOC, SDAD1, SEC24B, SEC24D, SEC31A, SEL1L3, SETD7, SFRP2, SH3BP2, SH3TC1, SHROOM3, SLBP, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC39A8, SLC4A4, SLC7A11, SLC9B1, SLIT2, SMARCA5, SMARCAD1, SMR3A, SOD3, SORCS2, SOWAHB, SPARCL1, SPATA4, SPOCK3, SPON2, SPP1, STAP1, STIM2, STOX2, STPG2, STX18, SULT1B1, SYNPO2, TACC3, TAPT1, TBC1D1, TBC1D19, TBC1D9, TBCK, TDO2, TEC, TECRL, TENM3, TET2, THAP6, THAP9, TIFA, TIGD2, TIGD4, TLL1, TLR1, TLR10, TLR3, TLR6, TMEM128, TMEM129, TMEM150C, TMEM155, TMEM156, TMEM165, TMEM175, TMEM192, TMPRSS11A, TMPRSS11B, TMPRSS11BNL, TMPRSS11E, TMPRSS11F, TNIP2, TRAPPC11, TRIM2, TRIML1, TRIML2, TRMT44, TRPC3, TTC29, TXK, UBA6, UCHL1, UCP1, UFSP2, UGDH, UGT2A1, UGT2A3, UGT2B11, UGT2B15, UGT2B17, UGT2B28, UGT2B4, UGT2B7, UGT8, UNC5C, USO1, USP38, USP53, UVSSA, WDFY3, WDR1, WDR17, WDR19, WFS1, WHSC1, WWC2, YTHDC1, ZAR1, ZBTB49, ZFP42, ZFYVE28, ZNF518B, ZNF721,

+ Genes associated with diseases 109

Genes at Omim

ADAMTS3, ADH1B, ADH1C, AFP, AGA, ALB, AMBN, AMTN, ANK2, ANTXR2, BBS12, CC2D2A, CFI, COL25A1, COQ2, CORIN, CYP4V2, DMP1, DOK7, DRD5, DSPP, EDNRA, EGF, ENAM, ETFDH, EVC, EVC2, F11, FAT4, FGB, FGF5, FGFR3, FRAS1, GAB1, GABRA2, GABRB1, GLRB, GRID2, GRXCR1, GUCY1A3, GUF1, GYPB, HMX1, HTT, IDUA, IL21, INTU, KDR, KIAA1109, KIT, KLKB1, LIAS, LRBA, LRIT3, MANBA, MTTP, NEK1, NFKB1, NKX3-2, NR3C2, PALLD, PDE6B, PDGFRA, PHOX2B, PIGG, PKD2, PLK4, PPA2, PPP3CA, PRDM5, PRDM8, PROM1, PRSS12, QDPR, RAPGEF2, RBPJ, RNF212, SEC24D, SH3BP2, SLC26A1, SLC2A9, SLC30A9, SLC34A2, SLC39A8, SLC4A4, SMARCAD1, SOD3, TAPT1, TBCK, TDO2, TEC, TECRL, TENM3, TET2, TLL1, TLR1, TLR3, TMEM165, TRAPPC11, TRIM2, TRPC3, UCHL1, UCP1, UFSP2, UGT2B17, UVSSA, WDFY3, WDR19, WFS1,
ADAMTS3 ?Hennekam lymphangiectasia-lymphedema syndrome 3, 618154 (3)
ADH1B {Aerodigestive tract cancer, squamous cell, alcohol-related, protection against}, 103780 (3)
{Alcohol dependence, protection against}, 103780 (3)
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)
AFP Alpha-fetoprotein deficiency, 615969 (3)
[Hereditary persistence of alpha-fetoprotein], 615970 (3)
AGA Aspartylglucosaminuria, 208400 (3)
ALB Analbuminemia, 616000 (3)
[Dysalbuminemic hyperthyroxinemia], 615999 (3)
AMBN Amelogenesis imperfecta, type IF, 616270 (3)
AMTN ?Amelogenesis imperfecta, type IIIB, 617607 (3)
ANK2 Cardiac arrhythmia, ankyrin-B-related, 600919 (3)
Long QT syndrome 4, 600919 (3)
ANTXR2 Hyaline fibromatosis syndrome, 228600 (3)
BBS12 Bardet-Biedl syndrome 12, 615989 (3)
CC2D2A COACH syndrome, 216360 (3)
Joubert syndrome 9, 612285 (3)
Meckel syndrome 6, 612284 (3)
CFI {Hemolytic uremic syndrome, atypical, susceptibility to, 3}, 612923 (3)
{Macular degeneration, age-related, 13, susceptibility to}, 615439 (3)
Complement factor I deficiency, 610984 (3)
COL25A1 Fibrosis of extraocular muscles, congenital, 5, 616219 (3)
COQ2 Coenzyme Q10 deficiency, primary, 1, 607426 (3)
{Multiple system atrophy, susceptibility to}, 146500 (3)
CORIN Preeclampsia/eclampsia 5, 614595 (3)
CYP4V2 Bietti crystalline corneoretinal dystrophy, 210370 (3)
DMP1 Hypophosphatemic rickets, AR, 241520 (3)
DOK7 ?Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 10, 254300 (3)
DRD5 {Attention deficit-hyperactivity disorder, susceptibility to}, 143465 (3)
{Blepharospasm, primary benign}, 606798 (3)
DSPP Deafness, autosomal dominant 39, with dentinogenesis, 605594 (3)
Dentin dysplasia, type II, 125420 (3)
Dentinogenesis imperfecta, Shields type II, 125490 (3)
Dentinogenesis imperfecta, Shields type III, 125500 (3)
EDNRA {Migraine, resistance to}, 157300 (3)
Mandibulofacial dysostosis with alopecia, 616367 (3)
EGF Hypomagnesemia 4, renal, 611718 (3)
ENAM Amelogenesis imperfecta, type IB, 104500 (3)
Amelogenesis imperfecta, type IC, 204650 (3)
ETFDH Glutaric acidemia IIC, 231680 (3)
EVC Ellis-van Creveld syndrome, 225500 (3)
?Weyers acrofacial dysostosis, 193530 (3)
EVC2 Ellis-van Creveld syndrome, 225500 (3)
Weyers acrofacial dysostosis, 193530 (3)
F11 Factor XI deficiency, autosomal dominant, 612416 (3)
Factor XI deficiency, autosomal recessive, 612416 (3)
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2, 616006 (3)
Van Maldergem syndrome 2, 615546 (3)
FGB Afibrinogenemia, congenital, 202400 (3)
Hypofibrinogenemia, congenital, 202400 (3)
Dysfibrinogenemia, congenital, 616004 (3)
FGF5 Trichomegaly, 190330 (3)
FGFR3 Bladder cancer, somatic, 109800 (3)
CATSHL syndrome, 610474 (3)
Cervical cancer, somatic, 603956 (3)
Hypochondroplasia, 146000 (3)
Achondroplasia, 100800 (3)
Colorectal cancer, somatic, 114500 (3)
Crouzon syndrome with acanthosis nigricans, 612247 (3)
LADD syndrome, 149730 (3)
Muenke syndrome, 602849 (3)
Nevus, epidermal, somatic, 162900 (3)
SADDAN, 616482 (3)
Spermatocytic seminoma, somatic, 273300 (3)
Thanatophoric dysplasia, type I, 187600 (3)
Thanatophoric dysplasia, type II, 187601 (3)
FRAS1 Fraser syndrome 1, 219000 (3)
GAB1 ?Deafness, autosomal recessive 26, 605428 (3)
GABRA2 {Alcohol dependence, susceptibility to}, 103780 (3)
GABRB1 Epileptic encephalopathy, early infantile, 45, 617153 (3)
GLRB Hyperekplexia 2, 614619 (3)
GRID2 Spinocerebellar ataxia, autosomal recessive 18, 616204 (3)
GRXCR1 Deafness, autosomal recessive 25, 613285 (3)
GUCY1A3 Moyamoya 6 with achalasia, 615750 (3)
GUF1 ?Epileptic encephalopathy, early infantile, 40, 617065 (3)
GYPB {Malaria, resistance to}, 611162 (3)
[Blood group, Ss], 111740 (3)
HMX1 Oculoauricular syndrome, 612109 (3)
HTT Huntington disease, 143100 (3)
Lopes-Maciel-Rodan syndrome, 617435 (3)
IDUA Mucopolysaccharidosis Ih, 607014 (3)
Mucopolysaccharidosis Ih/s, 607015 (3)
Mucopolysaccharidosis Is, 607016 (3)
IL21 ?Immunodeficiency, common variable, 11, 615767 (3)
INTU ?Orofaciodigital syndrome XVII, 617926 (3)
?Short-rib thoracic dysplasia 20 with polydactyly, 617925 (3)
KDR {Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
Hemangioma, capillary infantile, somatic, 602089 (3)
KIAA1109 Alkuraya-Kucinskas syndrome, 617822 (3)
KIT Gastrointestinal stromal tumor, familial, 606764 (3)
Germ cell tumors, somatic, 273300 (3)
Leukemia, acute myeloid, 601626 (3)
Mastocytosis, cutaneous, 154800 (3)
Mastocytosis, systemic, somatic, 154800 (3)
Piebaldism, 172800 (3)
KLKB1 Fletcher factor (prekallikrein) deficiency, 612423 (3)
LIAS Hyperglycinemia, lactic acidosis, and seizures, 614462 (3)
LRBA Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive, 615058 (3)
MANBA Mannosidosis, beta, 248510 (3)
MTTP Abetalipoproteinemia, 200100 (3)
{Metabolic syndrome, protection against}, 605552 (3)
NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3)
{Amyotrophic lateral sclerosis, susceptibility to, 24}, 617892 (3)
NFKB1 Immunodeficiency, common variable, 12, 616576 (3)
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3)
NR3C2 Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 (3)
Pseudohypoaldosteronism type I, autosomal dominant, 177735 (3)
PALLD {Pancreatic cancer, susceptibility to, 1}, 606856 (3)
PDE6B Night blindness, congenital stationary, autosomal dominant 2, 163500 (3)
Retinitis pigmentosa-40, 613801 (3)
PDGFRA Gastrointestinal stromal tumor, somatic, 606764 (3)
Hypereosinophilic syndrome, idiopathic, resistant to imatinib, 607685 (3)
PHOX2B Central hypoventilation syndrome, congenital, with or without Hirschsprung disease, 209880 (3)
{Neuroblastoma, susceptibility to, 2}, 613013 (3)
Neuroblastoma with Hirschsprung disease, 613013 (3)
PIGG Mental retardation, autosomal recessive 53, 616917 (3)
PKD2 Polycystic kidney disease 2, 613095 (3)
PLK4 Microcephaly and chorioretinopathy, autosomal recessive, 2, 616171 (3)
PPA2 ?Sudden cardiac failure, alcohol-induced, 617223 (3)
Sudden cardiac failure, infantile, 617222 (3)
PPP3CA Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, 618265 (3)
Epileptic encephalopathy, infantile or early childhood, 1, 617711 (3)
PRDM5 Brittle cornea syndrome 2, 614170 (3)
PRDM8 ?Epilepsy, progressive myoclonic, 10, 616640 (3)
PROM1 Cone-rod dystrophy 12, 612657 (3)
Macular dystrophy, retinal, 2, 608051 (3)
Retinitis pigmentosa 41, 612095 (3)
Stargardt disease 4, 603786 (3)
PRSS12 Mental retardation, autosomal recessive 1, 249500 (3)
QDPR Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)
RAPGEF2 ?Epilepsy, familial adult myoclonic, 7, 618075 (3)
RBPJ Adams-Oliver syndrome 3, 614814 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
SEC24D Cole-Carpenter syndrome 2, 616294 (3)
SH3BP2 Cherubism, 118400 (3)
SLC26A1 ?Nephrolithiasis, calcium oxalate, 167030 (3)
SLC2A9 Hypouricemia, renal, 2, 612076 (3)
{Uric acid concentration, serum, QTL 2}, 612076 (3)
SLC30A9 ?Birk-Landau-Perez syndrome, 617595 (3)
SLC34A2 Pulmonary alveolar microlithiasis, 265100 (3)
SLC39A8 Congenital disorder of glycosylation, type IIn, 616721 (3)
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities, 604278 (3)
SMARCAD1 Adermatoglyphia, 136000 (3)
Basan syndrome, 129200 (3)
Huriez syndrome, 181600 (3)
SOD3 [Superoxide dismutase, elevated extracellular] (3)
TAPT1 Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type, 616897 (3)
TBCK Hypotonia, infantile, with psychomotor retardation and characteristic facies 3, 616900 (3)
TDO2 [?Hypertryptophanemia], 600627 (3)
TEC Transient erythroblastopenia of childhood (2)
TECRL Ventricular tachycardia, catecholaminergic polymorphic, 3, 614021 (3)
TENM3 Microphthalmia, isolated, with coloboma 9, 615145 (3)
TET2 Myelodysplastic syndrome, somatic, 614286 (3)
TLL1 Atrial septal defect 6, 613087 (3)
TLR1 {Leprosy, protection against}, 613223 (3)
{Leprosy, susceptibility to, 5}, 613223 (3)
TLR3 {HIV1 infection, resistance to}, 609423 (3)
{Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 2}, 613002 (3)
TMEM165 Congenital disorder of glycosylation, type IIk, 614727 (3)
TRAPPC11 Muscular dystrophy, limb-girdle, autosomal recessive 18, 615356 (3)
TRIM2 Charcot-Marie-Tooth disease, type 2R, 615490 (3)
TRPC3 ?Spinocerebellar ataxia 41, 616410 (3)
UCHL1 Spastic paraplegia 79, autosomal recessive, 615491 (3)
{?Parkinson disease 5, susceptibility to}, 613643 (3)
UCP1 {Obesity, susceptibility to}, 601665 (3)
UFSP2 ?Hip dysplasia, Beukes type, 142669 (3)
?Spondyloepimetaphyseal dysplasia, Di Rocco type, 617974 (3)
UGT2B17 {Bone mineral density QTL 12, osteoporosis}, 612560 (3)
UVSSA UV-sensitive syndrome 3, 614640 (3)
WDFY3 ?Microcephaly 18, primary, autosomal dominant, 617520 (3)
WDR19 Nephronophthisis 13, 614377 (3)
?Cranioectodermal dysplasia 4, 614378 (3)
?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376 (3)
Senior-Loken syndrome 8, 616307 (3)
WFS1 Deafness, autosomal dominant 6/14/38, 600965 (3)
?Cataract 41, 116400 (3)
Wolfram syndrome 1, 222300 (3)
Wolfram-like syndrome, autosomal dominant, 614296 (3)
{Diabetes mellitus, noninsulin-dependent, association with}, 125853 (3)

Genes at Clinical Genomics Database

AFP, AGA, ALB, AMBN, ANK2, ANTXR2, BBS12, CC2D2A, CFI, COL25A1, COQ2, CORIN, CYP4V2, DMP1, DOK7, DSPP, EDNRA, EGF, ENAM, ETFDH, EVC, EVC2, F11, FAT4, FGB, FGF5, FGFR3, FRAS1, GLRB, GRID2, GRXCR1, GUCY1A3, GYPB, HADH, HMX1, HTT, IDUA, IL21, KIT, KLKB1, LIAS, LRBA, LRIT3, MANBA, MTTP, NEK1, NFKB1, NKX3-2, NR3C2, ODAM, PDE6B, PDGFRA, PHOX2B, PIGG, PKD2, PLK4, PRDM5, PRDM8, PRIMPOL, PROM1, PRSS12, QDPR, RBPJ, SH3BP2, SLC2A9, SLC34A2, SLC39A8, SLC4A4, SMARCAD1, TENM3, TLL1, TLR3, TMEM165, TRAPPC11, TRIM2, TRPC3, UCHL1, UFSP2, UVSSA, WDR19, WFS1,
AFP AFP deficiency, congenital
Hereditary persistence of AFP
AGA Aspartylglucosaminuria
ALB Dysalbuminemic hyperthyroxinemia
Analbuminemia
AMBN Amelogenesis imperfecta type IF
ANK2 Long QT syndrome, 4
Cardiac arrhythmia, ankyrin-B-related
ANTXR2 Hyalinosis, infantile systemic
Fibromatosis, juveline hyaline
BBS12 Bardet-Biedl syndrome 12
CC2D2A Joubert syndrome 9
Meckel syndrome 6
COACH syndrome
CFI Hemolytic uremic syndrome, atypical
Complement factor I deficiency
COL25A1 Fibrosis of extraocular muscles, congenital 5
COQ2 Coenzyme Q10 deficiency 1
CORIN Preeclampsia/eclampsia 5
CYP4V2 Bietti crystalline corneoretinal dystrophy
Retinitis pigmentosa, autosomal recessive
DMP1 Hypophosphatemic rickets, autosomal recessive 1
DOK7 Myasthenic syndrome, congenital 10
DSPP Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1
Dentinogenesis imperfecta, Shields type II
Dentinogenesis imperfecta, Shields type III
Dentin dysplasia, type II
EDNRA Mandibulofacial dysostosis with alopecia
EGF Hypomagnesemia 4, renal
ENAM Amelogenesis imperfecta, type IB
Amelogenesis imperfecta, type IC
ETFDH Multiple acyl-CoA dehydrogenase deficiency
Glutaric aciduria II
EVC Ellis-van Creveld syndrome
Weyers acrofacial dysostosis
EVC2 Ellis-van Creveld syndrome
Weyers acrodental dysostosis
F11 Factor XI deficiency
FAT4 Hennekam lymphangiectasia-lymphedema syndrome 2
FGB Afibrinogenemia, congenital
Dysfibrinogenemia, congenital
Hypodysfibrinogenemia, congenital
FGF5 Trichomegaly
FGFR3 Camptodactyly, tall stature, and hearing loss (CATSHL) syndrome
Crouzon syndrome with acanthosis nigricans
Lacrimoauriculodentodigital syndrome (AD)
Muenke syndrome
FRAS1 Fraser syndrome
GLRB Hyperekplexia 2
GRID2 Spinocerebellar ataxia, autosomal recessive 18
GRXCR1 Deafness, autosomal recessive 25
GUCY1A3 Moyamoya disease 6 with achalasia
GYPB Blood group, Ss
HADH 3-hydroxyacyl-CoA dehydrogenase deficiency
Hyperinsulinemic hypoglycemia, familial, 4
HMX1 Oculoauricular syndrome
HTT Huntington disease
IDUA Mucopolysaccharidosis type I
IL21 Immunodeficiency, common variable, 11
KIT Gastrointestinal stromal tumor
KLKB1 Prekallikrein deficiency
LIAS Pyruvate dehydrogensae lipoic acid synthetase deficiency
LRBA Common variable immunodeficiency 8, with autoimmunity
LRIT3 Night blindness, congenital stationary (complete), 1F, autosomal recessive
MANBA Mannosidosis, beta A, lysosomal
MTTP Abetalipoproteinemia
NEK1 Short-rib thoracic dysplasia 6 with or without polydactyly
NFKB1 Immunodeficiency, common variable, 12
NKX3-2 Spondylo-megaepiphyseal-metaphyseal dysplasia
NR3C2 Pseudohypoaldosteronism type I, autosomal dominant
Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy
ODAM Amelogenesis imperfecta, hypomaturation type, IIA4
PDE6B Night blindness, congenital stationary, autosomal dominant 2
Retinitis pigmentosa 40
PDGFRA Gastrointestinal stromal tumor
PHOX2B Central hypoventilation syndrome, congenital
Neuroblastoma with Hirschsprung disease
Neuroblastoma, susceptiblity to, 2
PIGG Mental retardation, autosomal recessive 53
PKD2 Polycystic kidney disease 2
PLK4 Microcephaly and chorioretinopathy, autosomal recessive 2
PRDM5 Brittle cornea syndrome 2
PRDM8 Epilepsy, progressive myoclonic, 10
PRIMPOL Myopia 22, autosomal dominant
PROM1 Cone-rod dystrophy 12
Macular dystrophy, retinal, 2
Stargardt disease 4
Retinitis pigmentosa 41
PRSS12 Mental retardation, autosomal recessive 1
QDPR Hyperphenylalaninemia, BH4-deficient, C
RBPJ Adams-Oliver syndrome 3
SH3BP2 Cherubism
SLC2A9 Hypouricemia, renal, 2
SLC34A2 Pulmonary alveolar microlithiasis
SLC39A8 Congenital disorder of glycosylation, type IIn
SLC4A4 Renal tubular acidosis, proximal, with ocular abnormalities and/or migraine
SMARCAD1 Adermatoglyphia
TENM3 Microphthalmia, isolated, with coloboma 9
TLL1 Atrial septal defect 6
TLR3 Herpes simplex encephalitis, susceptibility to, 2
TMEM165 Congenital disorder of glycosylation, type IIk
TRAPPC11 Limb-girdle muscular dystrophy, type 2S
TRIM2 Charcot-Marie-Tooth disease, axonal, type 2R
TRPC3 Spinocerebellar ataxia 41
UCHL1 Parkinson disease 5, autosomal dominant
Neurodegeneration with optic atropy, childhood-onset
UFSP2 Hip dysplasia, Beukes type
UVSSA UV-sensitive syndrome 3
WDR19 Short-rib thoracic dysplasia 5 with or without polydactyly
Cranioectodermal dysplasia 4
Nephronophthisis 13
Retinitis pigmentosa
Senior-Loken syndrome 8
WFS1 Wolfram syndrome

Genes at HGMD

Summary

Number of Variants: 15080
Number of Genes: 440

Export to: CSV
  • Page 1 of 151
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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs1046532927
dbSNP Clinvar 		1762621 21.93 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 1763129 58.64 G T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs4690258,rs935469494
dbSNP Clinvar 		47589 915.39 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 6 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs868018093
dbSNP Clinvar 		47655 246.48 A C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 8 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs1027927945
dbSNP Clinvar 		1107057 23.55 T C LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 14 None None None None None None None None None RNF212|0.003109274|88.48%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs950923037
dbSNP Clinvar 		1107061 13.3 A C LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 16 None None None None None None None None None RNF212|0.003109274|88.48%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 1129626 14.08 A C LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 1129639 14.08 A C LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 17548678 12.2 T C LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 4 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 32501501 20.94 C A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 36869650 65.9 A T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs906365935
dbSNP Clinvar 		17620410 24.92 C T LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None MED28|0.193447823|37.48%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 38651908 24.92 C A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 37773980 21.93 C T LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs112724054
dbSNP Clinvar 		1188876 24.92 C T LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None SPON2|0.013919082|77.93%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 1191372 63.58 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None SPON2|0.013919082|77.93%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 17750488 39.06 T G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None FAM184B|0.029449626|69.64%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs73199331
dbSNP Clinvar 		3576303 91.16 C G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 37775074 20.1 T A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 37780497 24.92 T C LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 17750501 40.9 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None FAM184B|0.029449626|69.64%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 17750538 17.97 C G LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None FAM184B|0.029449626|69.64%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs955522914,rs2780400
dbSNP Clinvar 		60335 447.47 A T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None ZNF595|0.001458469|93%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 17793397 32.91 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 17793404 32.91 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 17793410 32.91 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 18217724 16.7 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs76357151
dbSNP Clinvar 		3578074 510.13 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 12 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs4037430
dbSNP Clinvar 		3621493 325.12 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 4 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 37325800 50.98 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None NWD2|0.232539002|33.16%

TBC1D1
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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs2279027
dbSNP Clinvar 		37903756 7352.34 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.70407 0.70410 0.32370 1.00 0.00 None None None None None None TBC1D1|0.072752913|56.83%
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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 40011950 21.93 G C LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs3952225,rs991717812
dbSNP Clinvar 		63024 21.93 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None ZNF595|0.001458469|93%

TLR10
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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs11466657
dbSNP Clinvar 		38775794 10742.34 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.01857 0.01857 0.02699 0.00 0.09 None None None None None None TLR10|0.045687596|63.98%
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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs2779692,rs908891924
dbSNP Clinvar 		63079 102.18 A C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None ZNF595|0.001458469|93%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs2780457,rs941638188
dbSNP Clinvar 		63081 102.18 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None ZNF595|0.001458469|93%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs113800650
dbSNP Clinvar 		22803322 50.05 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 4 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 53073780 20.1 C A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 56638084 16.65 C T LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 57391877 19.98 C A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 4 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs3893220
dbSNP Clinvar 		3621561 602.63 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 1/1 4 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs933082781,rs2780453
dbSNP Clinvar 		64378 144.99 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 4 None None None None None None None None None ZNF595|0.001458469|93%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs62275435
dbSNP Clinvar 		3578143 238.73 G T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 10 None None None None None None None None None None

TBC1D1
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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs13110318
dbSNP Clinvar 		38138856 4855.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.09145 0.09145 0.07889 0.04 0.92 None None None None None None TBC1D1|0.072752913|56.83%
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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs796891548
dbSNP Clinvar 		22803341 44.05 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 6 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 22820262 1166.34 C A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 6 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 22820284 1499.34 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 18 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 23084693 21.93 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None

TLR10
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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs11096955
dbSNP Clinvar 		38776107 6369.34 T G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.49960 0.49960 0.39851 0.31 0.00 None None None None None None TLR10|0.045687596|63.98%
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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs62275436
dbSNP Clinvar 		3578184 170.16 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 8 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 39632969 43.06 G C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None SMIM14|0.343223172|24.62%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 39653448 24.92 C A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 40996843 43.67 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 6 None None None None None None None None None APBB2|0.401070014|20.7%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 40996846 37.67 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 6 None None None None None None None None None APBB2|0.401070014|20.7%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs3883809,rs1003383329
dbSNP Clinvar 		64892 5350.34 G C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 50 None None None None None None None None None ZNF595|0.001458469|93%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 40996850 37.67 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 8 None None None None None None None None None APBB2|0.401070014|20.7%

APBB2
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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs4861358
dbSNP Clinvar 		41015899 8210.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 116 NON_SYNONYMOUS_CODING MODERATE None 0.67412 0.67410 0.34970 0.65 0.00 None None None None None None APBB2|0.401070014|20.7%
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 sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs3904490,rs1035743625
dbSNP Clinvar 		64956 11776.34 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 72 None None None None None None None None None ZNF595|0.001458469|93%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 55061506 10.16 T A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 4 None None None None None None None None None FIP1L1|0.803179019|5.74%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 55089028 24.92 C T LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None FIP1L1|0.803179019|5.74%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 64977 116.76 A T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.90to100.00 0/1 88 None None None None None None None None None ZNF595|0.001458469|93%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 41167849 37.73 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None APBB2|0.401070014|20.7%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs4112055,rs1013081358
dbSNP Clinvar 		65077 11537.34 A T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 84 None None None None None None None None None ZNF595|0.001458469|93%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs4037432
dbSNP Clinvar 		3621562 602.63 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 1/1 4 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs2344297
dbSNP Clinvar 		3621810 190.55 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs569195798
dbSNP Clinvar 		44626079 24.92 T C LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None YIPF7|0.058648269|60.23%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 44626552 17.05 C A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None YIPF7|0.058648269|60.23%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 55127142 894.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 8 None None None None None None None None None FIP1L1|0.803179019|5.74%,PDGFRA|0.732814816|7.55%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs572443575
dbSNP Clinvar 		39025955 20.6 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None TMEM156|0.013336926|78.29%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs759388374
dbSNP Clinvar 		53660095 65.9 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs55711895
dbSNP Clinvar 		3621814 190.55 C G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None 0.00080 None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs2780452,rs918928750
dbSNP Clinvar 		65239 950.43 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 12 None None None None None None None None None ZNF595|0.001458469|93%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 136054 13.23 A G LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 53660120 65.9 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs2344298
dbSNP Clinvar 		3621845 99.64 G T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 53723902 16.7 G A LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs56287327
dbSNP Clinvar 		3621851 99.64 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs73792247
dbSNP Clinvar 		3578999 402.5 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 1/1 2 None None None None None None None None None LINC00955|0.001348255|93.6%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 53728429 166.42 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 16 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs66519938
dbSNP Clinvar 		3583643 261.68 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None LINC00955|0.001348255|93.6%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs769578405
dbSNP Clinvar 		1194475 4929.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 66 None None None None None None None None None SPON2|0.013919082|77.93%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 53995184 24.92 A G LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None SCFD2|0.103044891|50.59%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 54310599 21.93 A G LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None FIP1L1|0.803179019|5.74%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs76250919
dbSNP Clinvar 		3583664 313.9 T A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None LINC00955|0.001348255|93.6%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs868098979
dbSNP Clinvar 		56647093 20.1 A G LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 56697719 2563.34 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 30 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 56703369 2777.34 A C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 34 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 . 56756683 10.6 T C LowQual;Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 14 None None None None None None None None None EXOC1|0.505149118|15.57%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs75927353
dbSNP Clinvar 		3583667 354.14 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None LINC00955|0.001348255|93.6%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs10937945
dbSNP Clinvar 		3584864 62.9 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None LINC00955|0.001348255|93.6%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs73081116
dbSNP Clinvar 		3622577 250.45 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 4 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs10937946
dbSNP Clinvar 		3584867 62.9 G T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None LINC00955|0.001348255|93.6%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs73081117
dbSNP Clinvar 		3622634 371.37 T C Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only;VQSRTrancheSNP99.00to99.90 0/1 10 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs73792561
dbSNP Clinvar 		3622720 330.44 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 8 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs6842916
dbSNP Clinvar 		3587131 38.3 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 4 None None None None None None None None None LINC00955|0.001348255|93.6%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs73204975
dbSNP Clinvar 		3622729 336.23 A G Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 6 None None None None None None None None None None
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs4690041
dbSNP Clinvar 		3587171 35.4 G T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 4 None None None None None None None None None LINC00955|0.001348255|93.6%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs10755163
dbSNP Clinvar 		3589291 204.08 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 1/1 2 None None None None None None None None None LINC00955|0.001348255|93.6%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs10937953
dbSNP Clinvar 		3589432 159.95 G A Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 4 None None None None None None None None None LINC00955|0.001348255|93.6%
View sample_cs2-enzar_recalibrated_variants_snps_only_hard_filtered_snps_only 4 rs7658178
dbSNP Clinvar 		3590029 413.34 C T Sample_CS2-EnzaR_recalibrated_variants_SNPS_only_Hard_Filtered_SNPS_only 0/1 12 None None None None None None None None None LINC00955|0.001348255|93.6%
  • Page 1 of 151