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Genes:
ABCA13, ABCC8, AC008132.13, AC078925.1, AC136604.1, ACKR3, ACKR4, ACSM2A, ACSM2B, ACSS1, ACTR3B, ADAM12, ADAM21, ADAMTS13, ADAMTS2, ADAMTS7, ADH1C, ADI1, AFF3, AGAP5, AGAP6, AGBL1, AGXT, AHNAK, AL590708.2, ALPPL2, ALX4, ANAPC1, ANKK1, ANKRD10, ANKRD20A4, ANKRD30B, ANKRD33, ANKRD36, AOC3, AQP7, ARHGAP23, ARHGEF17, ARMCX4, ARRDC1, ASAP1, ASMTL, ATP2A3, ATP9B, ATXN1, B4GALNT2, BAG6, BAHD1, BCL11A, BCR, BMP8B, BTNL8, C12orf56, C14orf182, C15orf59, C1QL2, C1QTNF9, C1orf127, C1orf131, C20orf96, C21orf2, C2orf71, C5orf60, CACNA1C, CACNA1H, CACTIN, CAMK2B, CANT1, CAPN5, CARD14, CASP16, CASP2, CBWD1, CBWD2, CCDC70, CCDC74B, CD97, CD99, CDC27, CDH23, CDH4, CDHR4, CDRT1, CEACAM6, CEP170, CEP170B, CHEK2, CHRNA9, CHTF18, CISD2, CLEC18A, CLPSL1, CNR2, CNTNAP3, CNTNAP3B, COASY, COL27A1, CORO2B, CR769776.1, CRAMP1L, CROCC, CRYGD, CSF1, CSH1, CT45A5, CTAGE4, CTAGE9, CTD-3088G3.8, CUL9, CXXC11, CXorf40B, CXorf64, CYP11B1, CYP2A6, CYP2B6, DAB2IP, DACT2, DBR1, DCST1, DFNB31, DGCR6, DGCR6L, DHX37, DLGAP2, DLL3, DNAH3, DNAH8, DNASE1L3, DOK2, DOT1L, DPP6, DPY19L2, DPYS, DSPP, DTD2, DTX2, DUOX2, DUSP13, EIF2S3, EIF4EBP2, EPDR1, ERVW-1, ESR1, FAM124A, FAM153A, FAM153B, FAM187A, FAM188B, FAM20C, FAM21B, FAM86A, FAM86B1, FAM90A1, FANCA, FASTK, FBXO18, FBXW5, FCGBP, FCGR2A, FGF22, FLG2, FLT4, FMO1, FOXD4L1, FOXD4L3, FOXRED2, FOXS1, FRG1B, FRG2B, FRG2C, FUT3, GABRA5, GAGE2A, GGTLC2, GLB1, GNPAT, GOLGA6L1, GOLGA6L10, GOLGA6L19, GOLGA8M, GOLGA8S, GPATCH8, GPC4, GPR149, GPR32, GPR35, GPR50, GRHL3, GSDMA, GSTM5, GTF2IRD2B, GZMH, HAP1, HAVCR1, HCAR2, HES7, HIST1H2BK, HKDC1, HLA-A, HLA-DQB2, HMHA1, HOXB3, HRCT1, HRNR, ICOSLG, IFIT2, IGHMBP2, IGHV4-61, IGHV4OR15-8, IGHV7-81, IGKV1D-16, IGKV2D-29, IGLV3-25, IGSF3, IKZF2, IL1RAPL2, IL3, INPP5B, INPP5E, ITIH1, JAG2, JAKMIP2, JPH3, KCNH6, KCNK18, KCNN3, KCNQ4, KHDRBS2, KIAA1211, KIAA1551, KIF18B, KIF27, KIR2DL4, KIR3DL2, KLHL30, KNSTRN, KRBA1, KRT13, KRT23, KRT39, KRT71, KRT76, KRTAP10-4, KRTAP10-6, KRTAP13-1, KRTAP9-7, LCE1D, LCK, LHB, LIG4, LILRB2, LIN7A, LOXL4, LRP5, LRRC37B, LRRC43, MAD2L2, MAGEB16, MCAM, MED16, MED27, MEGF8, METTL2B, MFF, MIS18A, MOCOS, MON1A, MRPL9, MS4A3, MST1, MST1R, MUC12, MUC16, MUC17, MUC2, MUC3A, MUC4, MUC5B, MXRA5, MYO7A, MYO9B, NALCN, NANOG, NAPA, NBPF1, NBPF10, NBPF14, NBPF9, NCAPH2, NDUFA6, NFATC1, NIF3L1, NLRP5, NME4, NOS2, NPEPPS, NPIPA1, NPIPA5, NPIPB15, NPIPB5, NPIPB6, NSUN4, NUDT10, NUP50, NUTM2D, NUTM2G, ODF3L2, OGT, OPLAH, OR10G2, OR10G4, OR10G9, OR10H2, OR11H1, OR11H12, OR13G1, OR1S2, OR2J1, OR2T33, OR2T34, OR2T7, OR2T8, OR4C3, OR4F17, OR4K15, OR4N4, OR52I2, OR6B2, OR8B2, OR8G1, OR8U1, OS9, P2RX6, PABPC1, PABPC3, PCDH19, PCDHA2, PCDHA7, PCDHB10, PCDHB11, PCDHB12, PCDHB2, PCDHGA3, PCNXL2, PCNXL4, PDE12, PDE4DIP, PDIA2, PGAM4, PHRF1, PI4KA, PILRA, PIP4K2C, PITRM1, PKD1, PLEKHG1, PLEKHG4B, PLK5, PMS2, PNPLA3, POLE, POM121, POM121C, POTEC, POTEG, PPM1M, PRAMEF1, PRAMEF11, PRAMEF26, PRR15, PRSS1, PSAPL1, PSD4, PSG1, RAB20, RASA4B, RASGEF1C, RBAK-RBAKDN, RBMX, RGCC, RGPD3, RIMBP3, RIOK1, RP11-1407O15.2, RP11-830F9.6, RRM2B, SAP130, SBNO2, SCFD2, SCO2, SETD8, SFXN1, SH3BP1, SH3PXD2A, SH3TC1, SHANK3, SHD, SHROOM4, SIGLEC1, SLC22A1, SLC25A51, SLC2A9, SLC34A1, SLC35B3, SLC45A4, SLC9A3R2, SLFN13, SMG1, SMG6, SP110, SPDYE1, SPIB, SPPL2C, SPTBN5, SPTLC2, STEAP2, STUB1, SVIL, SYK, TAS2R43, TBC1D17, TBC1D3B, TBP, TBPL2, TCP10, TDRD10, TENM3, TF, TH, TIMP1, TMEM127, TMEM132C, TMEM187, TMEM194B, TMEM47, TMPRSS6, TOP3B, TP53, TRBV5-5, TRBV6-8, TRGV4, TRIM48, TRIM51, TRIO, TSPAN11, TTBK1, TTC16, TUBA3E, TUBB2B, TUBB8, TUBG2, UBE2O, UFSP1, UGT1A1, UGT2B4, UMODL1, USP17L17, USP17L22, USP32, USP6, VCX3B, VSIG10, VWA9, WASH4P, WDR24, WDR90, WFIKKN1, XCL1, ZDHHC11, ZNF417, ZNF419, ZNF439, ZNF446, ZNF525, ZNF561, ZNF595, ZNF705G, ZNF717, ZNF746, ZNF772, ZNF835, ZNHIT2, ZRANB3,

Genes at Omim

ABCC8, ADAMTS13, ADAMTS2, ADH1C, AGBL1, AGXT, ALX4, AQP7, ATXN1, BCL11A, BCR, CACNA1C, CACNA1H, CAMK2B, CANT1, CAPN5, CARD14, CDH23, CHEK2, CISD2, COASY, COL27A1, CRYGD, CSH1, CYP11B1, CYP2A6, CYP2B6, DLL3, DNASE1L3, DPP6, DPY19L2, DPYS, DSPP, DUOX2, EIF2S3, ESR1, FAM20C, FANCA, FCGR2A, FLG2, FLT4, FUT3, GLB1, GNPAT, GRHL3, HES7, HLA-A, IGHMBP2, IGSF3, INPP5E, JPH3, KCNK18, KCNQ4, KRT13, KRT71, LCK, LHB, LIG4, LRP5, MAD2L2, MEGF8, MFF, MOCOS, MST1R, MUC5B, MYO7A, MYO9B, NALCN, NDUFA6, OGT, OPLAH, PCDH19, PI4KA, PKD1, PMS2, POLE, PRSS1, RBMX, RRM2B, SCO2, SHANK3, SHROOM4, SLC2A9, SLC34A1, SP110, SPTLC2, STUB1, TBP, TENM3, TF, TH, TMEM127, TMPRSS6, TP53, TRIO, TUBB2B, TUBB8, UGT1A1,
ABCC8 Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
Diabetes mellitus, noninsulin-dependent, 125853 (3)
Diabetes mellitus, permanent neonatal, 606176 (3)
Diabetes mellitus, transient neonatal 2, 610374 (3)
ADAMTS13 Thrombotic thrombocytopenic purpura, familial, 274150 (3)
ADAMTS2 Ehlers-Danlos syndrome, dermatosparaxis type, 225410 (3)
ADH1C {Parkinson disease, susceptibility to}, 168600 (3)
{Alcohol dependence, protection against}, 103780 (3)
AGBL1 Corneal dystrophy, Fuchs endothelial, 8, 615523 (3)
AGXT Hyperoxaluria, primary, type 1, 259900 (3)
ALX4 Frontonasal dysplasia 2, 613451 (3)
Parietal foramina 2, 609597 (3)
{Craniosynostosis 5, susceptibility to}, 615529 (3)
AQP7 [Glycerol quantitative trait locus], 614411 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
BCL11A Dias-Logan syndrome, 617101 (3)
BCR Leukemia, acute lymphocytic, somatic, 613065 (3)
Leukemia, chronic myeloid, somatic, 608232 (3)
CACNA1C Brugada syndrome 3, 611875 (3)
Timothy syndrome, 601005 (3)
CACNA1H Hyperaldosteronism, familial, type IV, 617027 (3)
{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CAMK2B Mental retardation, autosomal dominant 54, 617799 (3)
CANT1 Desbuquois dysplasia 1, 251450 (3)
Epiphyseal dysplasia, multiple, 7, 617719 (3)
CAPN5 Vitreoretinopathy, neovascular inflammatory, 193235 (3)
CARD14 Pityriasis rubra pilaris, 173200 (3)
Psoriasis 2, 602723 (3)
CDH23 Deafness, autosomal recessive 12, 601386 (3)
{Pituitary adenoma 5, multiple types}, 617540 (3)
Usher syndrome, type 1D, 601067 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
CHEK2 Li-Fraumeni syndrome, 609265 (3)
{Prostate cancer, familial, susceptibility to}, 176807 (3)
Osteosarcoma, somatic, 259500 (3)
{Breast and colorectal cancer, susceptibility to} (3)
{Breast cancer, susceptibility to}, 114480 (3)
CISD2 Wolfram syndrome 2, 604928 (3)
COASY Neurodegeneration with brain iron accumulation 6, 615643 (3)
Pontocerebellar hypoplasia, type 12, 618266 (3)
COL27A1 Steel syndrome, 615155 (3)
CRYGD Cataract 4, multiple types, 115700 (3)
CSH1 [Placental lactogen deficiency] (1)
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, 202010 (3)
Aldosteronism, glucocorticoid-remediable, 103900 (3)
CYP2A6 {Lung cancer, resistance to}, 211980 (3)
Coumarin resistance, 122700 (3)
{Nicotine addiction, protection from}, 188890 (3)
CYP2B6 Efavirenz, poor metabolism of, 614546 (3)
{Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
DLL3 Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
DNASE1L3 Systemic lupus erythematosus 16, 614420 (3)
DPP6 {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3)
Mental retardation, autosomal dominant 33, 616311 (3)
DPY19L2 Spermatogenic failure 9, 613958 (3)
DPYS Dihydropyrimidinuria, 222748 (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)
DUOX2 Thyroid dyshormonogenesis 6, 607200 (3)
EIF2S3 MEHMO syndrome, 300148 (3)
ESR1 {HDL response to hormone replacement, augmented} (3)
Breast cancer, somatic, 114480 (3)
{Migraine, susceptibility to}, 157300 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
Estrogen resistance, 615363 (3)
{Atherosclerosis, susceptibility to} (3)
FAM20C Raine syndrome, 259775 (3)
FANCA Fanconi anemia, complementation group A, 227650 (3)
FCGR2A {Lupus nephritis, susceptibility to}, 152700 (3)
{Malaria, severe, susceptibility to}, 611162 (3)
{Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3)
FLG2 Peeling skin syndrome 6, 618084 (3)
FLT4 Hemangioma, capillary infantile, somatic, 602089 (3)
Lymphatic malformation 1, 153100 (3)
FUT3 [Blood group, Lewis] (3)
GLB1 GM1-gangliosidosis, type I, 230500 (3)
GM1-gangliosidosis, type II, 230600 (3)
GM1-gangliosidosis, type III, 230650 (3)
Mucopolysaccharidosis type IVB (Morquio), 253010 (3)
GNPAT Rhizomelic chondrodysplasia punctata, type 2, 222765 (3)
GRHL3 Van der Woude syndrome 2, 606713 (3)
HES7 Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
IGHMBP2 Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3)
Neuronopathy, distal hereditary motor, type VI, 604320 (3)
IGSF3 ?Lacrimal duct defect, 149700 (3)
INPP5E Joubert syndrome 1, 213300 (3)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
JPH3 Huntington disease-like 2, 606438 (3)
KCNK18 {Migraine, with or without aura, susceptibility to, 13}, 613656 (3)
KCNQ4 Deafness, autosomal dominant 2A, 600101 (3)
KRT13 White sponge nevus 2, 615785 (3)
KRT71 ?Hypotrichosis 13, 615896 (3)
LCK ?Immunodeficiency 22, 615758 (3)
LHB Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3)
LIG4 {Multiple myeloma, resistance to}, 254500 (3)
LIG4 syndrome, 606593 (3)
LRP5 Hyperostosis, endosteal, 144750 (3)
{Osteoporosis}, 166710 (3)
Exudative vitreoretinopathy 4, 601813 (3)
Osteopetrosis, autosomal dominant 1, 607634 (3)
Osteoporosis-pseudoglioma syndrome, 259770 (3)
Osteosclerosis, 144750 (3)
Polycystic liver disease 4 with or without kidney cysts, 617875 (3)
[Bone mineral density variability 1], 601884 (3)
van Buchem disease, type 2, 607636 (3)
MAD2L2 ?Fanconi anemia, complementation group V, 617243 (3)
MEGF8 Carpenter syndrome 2, 614976 (3)
MFF Encephalopathy due to defective mitochondrial and peroxisomal fission 2, 617086 (3)
MOCOS Xanthinuria, type II, 603592 (3)
MST1R {Nasopharyngeal carcinoma, susceptibility to, 3}, 617075 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
MYO7A Deafness, autosomal dominant 11, 601317 (3)
Deafness, autosomal recessive 2, 600060 (3)
Usher syndrome, type 1B, 276900 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
NALCN Congenital contractures of the limbs and face, hypotonia, and developmental delay, 616266 (3)
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1, 615419 (3)
NDUFA6 Mitochondrial complex I deficiency, nuclear type 33, 618253 (3)
OGT Mental retardation, X-linked 106, 300997 (3)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
PCDH19 Epileptic encephalopathy, early infantile, 9, 300088 (3)
PI4KA Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, 616531 (3)
PKD1 Polycystic kidney disease 1, 173900 (3)
PMS2 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Mismatch repair cancer syndrome, 276300 (3)
POLE IMAGE-I syndrome, 618336 (3)
FILS syndrome, 615139 (3)
{Colorectal cancer, susceptibility to, 12}, 615083 (3)
PRSS1 Pancreatitis, hereditary, 167800 (3)
Trypsinogen deficiency, 614044 (1)
RBMX ?Mental retardation, X-linked, syndromic 11, Shashi type, 300238 (3)
RRM2B Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), 612075 (3)
Mitochondrial DNA depletion syndrome 8B (MNGIE type), 612075 (3)
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5, 613077 (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)
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome, 300434 (3)
SLC2A9 Hypouricemia, renal, 2, 612076 (3)
{Uric acid concentration, serum, QTL 2}, 612076 (3)
SLC34A1 Hypercalcemia, infantile, 2, 616963 (3)
?Fanconi renotubular syndrome 2, 613388 (3)
Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286 (3)
SP110 Hepatic venoocclusive disease with immunodeficiency, 235550 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
SPTLC2 Neuropathy, hereditary sensory and autonomic, type IC, 613640 (3)
STUB1 ?Spinocerebellar ataxia 48, 618093 (3)
Spinocerebellar ataxia, autosomal recessive 16, 615768 (3)
TBP {Parkinson disease, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 17, 607136 (3)
TENM3 Microphthalmia, isolated, with coloboma 9, 615145 (3)
TF Atransferrinemia, 209300 (3)
TH Segawa syndrome, recessive, 605407 (3)
TMEM127 {Pheochromocytoma, susceptibility to}, 171300 (3)
TMPRSS6 Iron-refractory iron deficiency anemia, 206200 (3)
TP53 {Glioma susceptibility 1}, 137800 (3)
Bone marrow failure syndrome 5, 618165 (3)
Breast cancer, somatic, 114480 (3)
Hepatocellular carcinoma, somatic, 114550 (3)
{Osteosarcoma}, 259500 (3)
Li-Fraumeni syndrome, 151623 (3)
Nasopharyngeal carcinoma, somatic, 607107 (3)
Pancreatic cancer, somatic 260350 (3)
{Adrenocortical carcinoma, pediatric}, 202300 (3)
{Basal cell carcinoma 7}, 614740 (3)
{Choroid plexus papilloma}, 260500 (3)
{Colorectal cancer}, 114500 (3)
TRIO Mental retardation, autosomal dominant 44, 617061 (3)
TUBB2B Cortical dysplasia, complex, with other brain malformations 7, 610031 (3)
TUBB8 Oocyte maturation defect 2, 616780 (3)
UGT1A1 Hyperbilirubinemia, familial transient neonatal, 237900 (3)
Crigler-Najjar syndrome, type I, 218800 (3)
Crigler-Najjar syndrome, type II, 606785 (3)
[Bilirubin, serum level of, QTL1], 601816 (3)
[Gilbert syndrome], 143500 (3)

Genes at Clinical Genomics Database

ABCC8, ADAMTS13, ADAMTS2, AGBL1, AGXT, ALX4, ATXN1, BCL11A, BCR, CACNA1C, CANT1, CAPN5, CARD14, CDH23, CHEK2, CISD2, COASY, COL27A1, CRYGD, CYP11B1, CYP2A6, CYP2B6, DLL3, DNASE1L3, DPP6, DPY19L2, DPYS, DSPP, DUOX2, ESR1, FAM20C, FANCA, FLT4, FUT3, GLB1, GNPAT, GRHL3, HES7, HLA-A, IGHMBP2, IGSF3, INPP5E, JPH3, KCNK18, KCNQ4, KRT13, KRT71, LCK, LHB, LIG4, LRP5, MEGF8, MYO7A, NALCN, OPLAH, PCDH19, PI4KA, PKD1, PMS2, POLE, PRSS1, RBMX, RRM2B, SCO2, SHANK3, SHROOM4, SLC2A9, SLC34A1, SP110, STUB1, TBP, TENM3, TF, TH, TMEM127, TMPRSS6, TP53, TUBB2B, TUBB8, UGT1A1,
ABCC8 Diabetes mellitus, transient neonatal, 2
Diabetes, permanent neonatal
Hyperinsulinemic hypoglycemia, familial, 1
Hypoglycemia, leucine-induced
ADAMTS13 Thrombotic thrombocytopenic purpura, familial
Schulman-Upshaw syndrome
ADAMTS2 Ehlers-Danlos syndrome, type VII
AGBL1 Corneal dystrophy, Fuchs endothelial, 8
AGXT Hyperoxaluria, primary, type 1
ALX4 Parietal foramina 2
Frontonasal dysplasia 2
ATXN1 Spinocerebellar ataxia 1
BCL11A Severe speech sound disorder
BCR CML treatment, response to
CACNA1C Brugada syndrome 3
Timothy syndrome
CANT1 Desbuquois dysplasia 1
CAPN5 Vitreoretinopathy, neovascular inflammatory
CARD14 Psoriasis 2
CDH23 Deafness, autosomal recessive 12
Usher syndrome, type 1D
Usher syndrome, type 1D /F digenic
CHEK2 Li-Fraumeni syndrome 2
CISD2 Wolfram syndrome 2
COASY Neurodegeneration with brain iron accumulation 6
COL27A1 Steel syndrome
CRYGD Cataract 4, multiple types
CYP11B1 Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency
Glucocorticoid-remediable aldosteronism
CYP2A6 CYP2A6-related drug metabolism
CYP2B6 Efavirenz, poor metabolism of
DLL3 Spondylocostal dysostosis 1, autosomal recessive
DNASE1L3 Systemic lupus erythematosus 16
DPP6 Ventricular fibrillation, paroxysmal familial, 2
DPY19L2 Spermatogenic failure 9
Globozoospermia
DPYS Dihydropyriminidase deficiency
DSPP Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1
Dentinogenesis imperfecta, Shields type II
Dentinogenesis imperfecta, Shields type III
Dentin dysplasia, type II
DUOX2 Thyroid dyshormonogenesis 6
ESR1 Estrogen resistance
FAM20C Hypophosphatemia,hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
FANCA Fanconi anemia, complementation group A
FLT4 Lymphedema, hereditary I (Milory disease)
FUT3 Blood group, Lewis
GLB1 Mucopolysaccharidosis type IVB (Morquio syndrome B)
GM1-gangliosidosis, type I
GM1-gangliosidosis, type II
GM1-gangliosidosis, type III
GNPAT Rhizomelic chondrodysplasia punctata, rhizomelic, type 2
GRHL3 van der Woude syndrome 2
HES7 Spondylocostal dysostosis 4, autosomal recessive
HLA-A Drug-induced toxicity, susceptibility to
IGHMBP2 Spinal muscular atrophy, distal, autosomal recessive, 1
Charcot-Marie-Tooth disease, axonal, type 2S
IGSF3 Lacrimal duct defect
INPP5E Joubert syndrome 1
Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
JPH3 Huntington disease-like 2
KCNK18 Migraine, with or without aura, susceptibility to, 13
KCNQ4 Deafness, autosomal dominant 2A
KRT13 White sponge nevus 2
KRT71 Hypotrichosis 13
LCK Immunodeficiency 22
LHB Hypogonadotropic hypogonadism 23 with or without anosmia
LIG4 LIG4 syndrome
Severe combined immunodeficiency with sensitivity to ionizing radiation
LRP5 van Buchem disease, type 2
Osteopetrosis, autosomal dominant 1
Osteosclerosis
Hyperostosis, endosteal
Exudative vitreoretinopathy 4
Osteoporosis-pseudoglioma syndrome
MEGF8 Carpenter syndrome 2
MYO7A Deafness, autosomal recessive 2
Usher syndrome, type 1B
NALCN Congenital contractures of the limbs and face, hypotonia, and developmental delay
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
OPLAH 5-oxoprolinase deficiency
PCDH19 Epileptic encephalopathy, early infantile, 9
PI4KA Perisylvian polymicrogyria, cerebellar hypoplasia, and arthrogryposis
PKD1 Polycystic kidney disease, adult type I
PMS2 Colorectal cancer, hereditary nonpolyposis type 4
Mismatch repair cancer syndrome
POLE Colorectal cancer, susceptibility to, 12
Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
PRSS1 Pancreatitis, hereditary
RBMX Mental retardation, X-linked, syndromic 11, Shashi type
RRM2B Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 5
Mitochondrial DNA depletion syndrome 8A
Mitochondrial DNA depletion syndrome 8B
SCO2 Myopia 6
Leigh syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1
Hypertrophic cardiomyopathy
SHANK3 Phelan-McDermid syndrome
Schizophrenia
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome
SLC2A9 Hypouricemia, renal, 2
SLC34A1 Fanconi renotubular syndrome 2
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
SP110 Hepatic venoocclusive disease with immunodeficiency
STUB1 Spinocerebellar ataxia, autosomal recessive 16
TBP Spinocerebellar ataxia 17
TENM3 Microphthalmia, isolated, with coloboma 9
TF Atransferrinemia
TH Segawa syndrome, autosomal recessive
TMEM127 Pheochromocytoma
TMPRSS6 Iron-refractory iron deficiency anemia
TP53 Li-Fraumeni syndrome
Choroid plexus papilloma
Ependymoma, intracranial
Osteogenic sarcoma
Breast cancer, familial
Hepatoblastoma
Non-Hodgkin lymphoma
Adrenocortical carcinoma
Colorectal cancer
TUBB2B Polymicrogyria, asymmetric
TUBB8 Oocyte maturation defect 2
UGT1A1 Crigler-Najjar syndrome, type I
Crigler-Najjar syndrome, type II
Gilbert syndrome

Genes at HGMD

Summary

Number of Variants: 2231
Number of Genes: 483

Export to: CSV

ABCA13

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 8754_onol_s2_vs_onol_n_ucla TUMOR 7 rs1880736
dbSNP Clinvar
48315796 0.0 C A alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.81290 0.81290 0.30295 0.00 None None None None None None ABCA13|0.04721773|63.52%

ABCC8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 11 rs1799857
dbSNP Clinvar
17452492 0.0 G A alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.42991 0.42990 0.45873 None None None None None None ABCC8|0.967482639|1.79%

AC008132.13

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 22 rs201134953
dbSNP Clinvar
18835230 0.0 C T alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None None

AC078925.1

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 8754_onol_s2_vs_onol_n_ucla TUMOR 12 rs112089472
dbSNP Clinvar
131514494 0.0 A G alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None ADGRD1|0.008485003|82.17%

AC136604.1

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 8754_onol_s2_vs_onol_n_ucla TUMOR 5 rs185581238
dbSNP Clinvar
179079250 0.0 A G alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.22 0.00 2.73 0.02 0.36769 T None None None None None

ACKR3

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 8754_onol_s2_vs_onol_n_ucla TUMOR 2 rs756275061
dbSNP Clinvar
237489200 0.0 C T alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.01 None None None None None None ACKR3|0.161876661|41.3%

ACKR4

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 8754_onol_s2_vs_onol_n_ucla TUMOR 3 rs3911405
dbSNP Clinvar
132319910 0.0 A G alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None ACAD11|0.064924098|58.66%,NPHP3|0.172447635|40.02%,ACKR4|0.047267146|63.52%

ACSM2A

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 8754_onol_s2_vs_onol_n_ucla TUMOR 16 rs62035041
dbSNP Clinvar
20476995 0.0 G A alt_allele_in_normal 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.03 0.73 None None None None None None ACSM2A|0.005190474|85.6%

ACSM2B

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 8754_onol_s2_vs_onol_n_ucla TUMOR 16 rs9941182
dbSNP Clinvar
20554582 0.0 T G alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00 0.00 None None None None None None ACSM2B|0.005001118|85.81%

ACSS1

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 8754_onol_s2_vs_onol_n_ucla TUMOR 20 rs6050259
dbSNP Clinvar
25011423 0.0 T C alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.22264 0.22260 0.30540 None None None None None None ACSS1|0.048821607|63.01%

ACTR3B

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 8754_onol_s2_vs_onol_n_ucla TUMOR 7 rs200914813
dbSNP Clinvar
152522195 0.0 C T alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None ACTR3B|0.081273101|54.92%

ADAM12

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 8754_onol_s2_vs_onol_n_ucla TUMOR 10 rs3740199
dbSNP Clinvar
128019025 0.0 C G alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.00140 0.42803 0.33 0.00 None None None None None None ADAM12|0.075293986|56.23%

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 8754_onol_s2_vs_onol_n_ucla TUMOR 14 rs199920662
dbSNP Clinvar
70924335 0.0 C T alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.26 None None None None None None ADAM21|0.009866102|80.97%

ADAMTS13

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 8754_onol_s2_vs_onol_n_ucla TUMOR 9 rs3118667
dbSNP Clinvar
136291063 0.0 C T alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.58187 0.58190 0.48355 None None None None None None ADAMTS13|0.009367264|81.4%

ADAMTS2

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 8754_onol_s2_vs_onol_n_ucla TUMOR 5 rs2271212
dbSNP Clinvar
178770981 0.0 A G alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.30895 None None None None None None ADAMTS2|0.325728261|25.76%

ADAMTS7

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 15 . 79058245 0.0 G A alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None ADAMTS7|0.010836867|80.23%
View 8754_onol_s2_vs_onol_n_ucla TUMOR 15 rs200436984
dbSNP Clinvar
79058307 0.0 A T alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None ADAMTS7|0.010836867|80.23%

ADH1C

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 8754_onol_s2_vs_onol_n_ucla TUMOR 4 rs2241894
dbSNP Clinvar
100266133 0.0 T C alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.47165 0.47160 0.30109 None None None None None None None

ADI1

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 8754_onol_s2_vs_onol_n_ucla TUMOR 2 rs9950
dbSNP Clinvar
3504687 0.0 A G alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.53355 0.53350 0.49316 None None None None None None ADI1|0.015730292|76.62%

AFF3

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 8754_onol_s2_vs_onol_n_ucla TUMOR 2 rs4851214
dbSNP Clinvar
100218080 0.0 G A alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.23982 0.23980 0.19810 None None None None None None AFF3|0.40331812|20.57%

AGAP5

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 8754_onol_s2_vs_onol_n_ucla TUMOR 10 rs3998263
dbSNP Clinvar
75435368 0.0 C T alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None AGAP5|0.009639275|81.14%

AGAP6

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 8754_onol_s2_vs_onol_n_ucla TUMOR 10 . 51767798 0.0 A T alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None AGAP6|0.003119632|88.45%
View 8754_onol_s2_vs_onol_n_ucla TUMOR 10 . 51768722 0.0 T C alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None AGAP6|0.003119632|88.45%

AGBL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 15 rs10520618
dbSNP Clinvar
86807761 0.0 A G alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.50539 0.50540 0.47409 None None None None None None AGBL1|0.082073978|54.74%

AGXT

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 8754_onol_s2_vs_onol_n_ucla TUMOR 2 rs34116584
dbSNP Clinvar
241808314 0.0 C T alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.15528 0.00 1.00 None None None None None None AGXT|0.028700088|70.08%

AHNAK

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 8754_onol_s2_vs_onol_n_ucla TUMOR 11 rs376173979
dbSNP Clinvar
62285859 0.0 C A alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00015 0.98 None None None None None None AHNAK|0.340600581|24.81%

AL590708.2

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 8754_onol_s2_vs_onol_n_ucla TUMOR 9 rs12377832
dbSNP Clinvar
130891060 0.0 G A alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.12001 0.12000 0.00 0.97 None None None None None None None

ALPPL2

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 8754_onol_s2_vs_onol_n_ucla TUMOR 2 rs17416141
dbSNP Clinvar
233273244 0.0 C A alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.34465 0.34460 0.27338 0.22 0.26 None None None None None None ALPPL2|0.999048499|0.4%

ALX4

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 8754_onol_s2_vs_onol_n_ucla TUMOR 11 rs3824915
dbSNP Clinvar
44331509 0.0 C G alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.47264 0.47260 0.42421 0.00 0.88 None None None None None None ALX4|0.690991356|8.75%

ANAPC1

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 8754_onol_s2_vs_onol_n_ucla TUMOR 2 rs201128090
dbSNP Clinvar
112619981 0.0 G A alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.26 None None None None None None ANAPC1|0.14646446|43.53%

ANKK1

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 8754_onol_s2_vs_onol_n_ucla TUMOR 11 rs1800497
dbSNP Clinvar
113270828 0.0 G A alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.32568 0.32570 0.23539 1.00 0.00 None None None None None None ANKK1|0.031328783|68.87%

ANKRD10

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 8754_onol_s2_vs_onol_n_ucla TUMOR 13 rs3742185
dbSNP Clinvar
111532288 0.0 G A alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.07648 0.07648 0.03060 0.12 0.00 None None None None None None ANKRD10|0.068914664|57.75%

ANKRD20A4

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 8754_onol_s2_vs_onol_n_ucla TUMOR 9 . 69421983 0.0 G C alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.26 None None None None None None ANKRD20A4|0.002453356|89.79%

ANKRD30B

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 8754_onol_s2_vs_onol_n_ucla TUMOR 18 rs45533337
dbSNP Clinvar
14803745 0.0 A G alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.02 None None None None None None ANKRD30B|0.000995671|95.47%

ANKRD33

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 8754_onol_s2_vs_onol_n_ucla TUMOR 12 rs697634
dbSNP Clinvar
52282060 0.0 C T alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.33167 0.33170 0.25811 None None None None None None ANKRD33|0.021337609|73.52%

ANKRD36

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 8754_onol_s2_vs_onol_n_ucla TUMOR 2 rs200806944
dbSNP Clinvar
97830177 0.0 G T alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.93 None None None None None None ANKRD36|0.001192347|94.46%

AOC3

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 8754_onol_s2_vs_onol_n_ucla TUMOR 17 rs35097308
dbSNP Clinvar
41004472 0.0 T C alt_allele_in_normal 0/1 0 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00998 0.00998 0.01138 0.02 0.06 None None None None None None AOC3|0.087399951|53.73%

AQP7

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 8754_onol_s2_vs_onol_n_ucla TUMOR 9 rs3569
dbSNP Clinvar
33385165 0.0 A G alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None AQP7|0.012677613|78.76%
View 8754_onol_s2_vs_onol_n_ucla TUMOR 9 rs62542745
dbSNP Clinvar
33385815 0.0 T C alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.20 0.06 None None None None None None AQP7|0.012677613|78.76%

ARHGAP23

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 8754_onol_s2_vs_onol_n_ucla TUMOR 17 rs8075324
dbSNP Clinvar
36622482 0.0 G C alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.29872 0.29870 None None None None None None ARHGAP23|0.124657713|46.71%

ARHGEF17

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 8754_onol_s2_vs_onol_n_ucla TUMOR 11 rs61749197
dbSNP Clinvar
73076590 0.0 C T alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.03235 0.03235 0.06692 None None None None None None ARHGEF17|0.03247462|68.39%

ARMCX4

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 8754_onol_s2_vs_onol_n_ucla TUMOR X . 100747585 0.0 A G alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None ARMCX4|0.006015436|84.57%

ARRDC1

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 8754_onol_s2_vs_onol_n_ucla TUMOR 9 rs143839448
dbSNP Clinvar
140508600 0.0 G C alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00115 0.04 0.05 None None None None None None ARRDC1|0.043457377|64.67%

ASAP1

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 8754_onol_s2_vs_onol_n_ucla TUMOR 8 rs966185
dbSNP Clinvar
131124559 0.0 T C alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.47444 0.47440 0.39866 0.86 0.00 None None None None None None ASAP1|0.438507149|18.75%

ASMTL

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 8754_onol_s2_vs_onol_n_ucla TUMOR X rs4503285
dbSNP Clinvar
1537881 0.0 C T alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.26558 0.26560 0.25753 0.03 0.03 None None None None None None ASMTL|0.001996891|91.03%

ATP2A3

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 8754_onol_s2_vs_onol_n_ucla TUMOR 17 rs9895012
dbSNP Clinvar
3844345 0.0 G A alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.01298 0.01298 0.01870 0.33 0.01 None None None None None None ATP2A3|0.0615045|59.44%

ATP9B

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 8754_onol_s2_vs_onol_n_ucla TUMOR 18 rs36034863
dbSNP Clinvar
77063702 0.0 G A alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.03135 0.03135 0.02745 0.53 0.00 None None None None None None ATP9B|0.095143963|52.07%

ATXN1

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 8754_onol_s2_vs_onol_n_ucla TUMOR 6 rs2075974
dbSNP Clinvar
16327330 0.0 T C alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.36921 0.36920 0.28095 None None None None None None ATXN1|0.832563526|5.05%

B4GALNT2

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 8754_onol_s2_vs_onol_n_ucla TUMOR 17 rs117575112
dbSNP Clinvar
47210469 0.0 G A alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.05591 0.05591 0.04676 0.02 0.31 None None None None None None B4GALNT2|0.038585126|66.26%

BAG6

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 8754_onol_s2_vs_onol_n_ucla TUMOR 6 . 31609701 0.0 GA... G alt_allele_in_normal 0/1 0 None None None None None None None None None BAG6|0.203831216|36.26%

BAHD1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 8754_onol_s2_vs_onol_n_ucla TUMOR 15 . 40756195 0.0 G A alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.90 None None None None None None BAHD1|0.194465075|37.34%

BCL11A

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 8754_onol_s2_vs_onol_n_ucla TUMOR 2 rs7569946
dbSNP Clinvar
60687959 0.0 A G alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.83007 0.83010 0.28751 None None None None None None BCL11A|0.997484889|0.61%

BCR

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 8754_onol_s2_vs_onol_n_ucla TUMOR 22 rs746213513
dbSNP Clinvar
23651650 0.0 A G alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.16 0.00 None None None None None None BCR|0.805888971|5.65%

BMP8B

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 8754_onol_s2_vs_onol_n_ucla TUMOR 1 rs2745497
dbSNP Clinvar
40230633 0.0 T A alt_allele_in_normal 0/1 0 None None None 0.28 0.01 None None None None None None BMP8B|0.042910691|64.83%

BTNL8

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 8754_onol_s2_vs_onol_n_ucla TUMOR 5 rs146303629
dbSNP Clinvar
180376974 0.0 T G alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.28894 0.28890 0.31697 0.19 0.06 None None None None None None BTNL8|0.000363507|99.19%
View 8754_onol_s2_vs_onol_n_ucla TUMOR 5 rs142207026
dbSNP Clinvar
180376972 0.0 C G alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.28894 0.28890 0.16 0.45 None None None None None None BTNL8|0.000363507|99.19%

C12orf56

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 8754_onol_s2_vs_onol_n_ucla TUMOR 12 rs113411861
dbSNP Clinvar
64712546 0.0 A AGTT alt_allele_in_normal 0/1 0 CODON_INSERTION MODERATE None 0.43810 0.43810 0.45456 None None None None None None C12orf56|0.034622904|67.57%

C14orf182

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 8754_onol_s2_vs_onol_n_ucla TUMOR 14 rs6572635
dbSNP Clinvar
50472405 0.0 G A alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.29573 0.29570 0.30201 0.09 0.96 None None None None None None LINC01588|0.001037741|95.22%

C15orf59

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 8754_onol_s2_vs_onol_n_ucla TUMOR 15 rs28594180
dbSNP Clinvar
74032783 0.0 A G alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.44808 0.44810 0.37104 None None None None None None C15orf59|0.082244238|54.72%

C1orf127

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 8754_onol_s2_vs_onol_n_ucla TUMOR 1 rs1281016
dbSNP Clinvar
11008594 0.0 A T alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.06909 0.06909 0.08289 0.07 0.99 None None None None None None C1orf127|0.000880399|96.14%

C1orf131

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 8754_onol_s2_vs_onol_n_ucla TUMOR 1 rs2274067
dbSNP Clinvar
231376806 0.0 G C alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.08806 0.08806 0.08442 0.01 0.73 None None None None None None C1orf131|0.010875103|80.19%

C1QL2

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 8754_onol_s2_vs_onol_n_ucla TUMOR 2 rs7556873
dbSNP Clinvar
119915249 0.0 T C alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.58646 0.58650 0.29333 None None None None None None C1QL2|0.110834439|49.03%

C1QTNF9

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 8754_onol_s2_vs_onol_n_ucla TUMOR 13 rs377422263
dbSNP Clinvar
24895711 0.0 T C alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None C1QTNF9|0.007159011|83.32%

C20orf96

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 8754_onol_s2_vs_onol_n_ucla TUMOR 20 rs3827147
dbSNP Clinvar
256727 0.0 T A alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.63518 0.63520 0.34553 1.00 0.00 None None None None None None None

C21orf2

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 8754_onol_s2_vs_onol_n_ucla TUMOR 21 rs9306099
dbSNP Clinvar
45751814 0.0 C T alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.02256 0.02256 0.02861 0.16 0.71 None None None None None None C21orf2|0.021974871|73.18%

C2orf71

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 8754_onol_s2_vs_onol_n_ucla TUMOR 2 rs144569618
dbSNP Clinvar
29294239 0.0 G A alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.03135 0.03135 0.01907 None None None None None None C2orf71|0.006399925|84.18%

C5orf60

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 8754_onol_s2_vs_onol_n_ucla TUMOR 5 rs4990391
dbSNP Clinvar
179071836 0.0 C T alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.14317 0.14320 None None None None None None C5orf60|0.001143747|94.74%

CACNA1C

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 8754_onol_s2_vs_onol_n_ucla TUMOR 12 rs56270948
dbSNP Clinvar
2794977 0.0 G A alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.03594 0.03594 None None None None None None CACNA1C|0.702781937|8.42%

CACNA1H

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 8754_onol_s2_vs_onol_n_ucla TUMOR 16 rs1054644
dbSNP Clinvar
1270111 0.0 G A alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.09046 0.09046 0.09123 0.18 0.01 None None None None None None CACNA1H|0.025235592|71.7%
View 8754_onol_s2_vs_onol_n_ucla TUMOR 16 rs3751664
dbSNP Clinvar
1254369 0.0 C T alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.04673 0.04673 0.07380 0.04 0.01 None None None None None None CACNA1H|0.025235592|71.7%

CACTIN

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 8754_onol_s2_vs_onol_n_ucla TUMOR 19 rs60651483
dbSNP Clinvar
3614538 0.0 C T alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.13818 0.13820 0.08004 None None None None None None CACTIN|0.050675248|62.45%

CAMK2B

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 8754_onol_s2_vs_onol_n_ucla TUMOR 7 rs1065359
dbSNP Clinvar
44259706 0.0 G A alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.33906 0.33910 0.35082 None None None None None None CAMK2B|0.490715837|16.28%
View 8754_onol_s2_vs_onol_n_ucla TUMOR 7 rs1127065
dbSNP Clinvar
44259871 0.0 C T alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.00779 0.00779 0.35960 None None None None None None CAMK2B|0.490715837|16.28%

CANT1

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 8754_onol_s2_vs_onol_n_ucla TUMOR 17 . 76993087 0.0 GC G alt_allele_in_normal 0/1 0 FRAME_SHIFT HIGH None None None None None None None CANT1|0.041214998|65.38%

CAPN5

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 8754_onol_s2_vs_onol_n_ucla TUMOR 11 . 76826516 0.0 G T alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.05 0.81 None None None None None None CAPN5|0.074828783|56.33%

CARD14

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 8754_onol_s2_vs_onol_n_ucla TUMOR 17 rs61751629
dbSNP Clinvar
78166326 0.0 G A alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00819 0.00819 0.02207 0.15 0.36 None None None None None None CARD14|0.016890899|75.93%

CASP16

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 8754_onol_s2_vs_onol_n_ucla TUMOR 16 rs2735514
dbSNP Clinvar
3199713 0.0 C T alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.29453 0.29450 None None None None None None CASP16|0.016227806|76.32%

CASP2

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 8754_onol_s2_vs_onol_n_ucla TUMOR 7 rs143572840
dbSNP Clinvar
142985569 0.0 G A alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.00140 0.00140 0.00069 None None None None None None CASP2|0.281163244|29.03%

CBWD1

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 8754_onol_s2_vs_onol_n_ucla TUMOR 9 rs12380
dbSNP Clinvar
172167 0.0 C T alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 -0.05 0.00 0.12408 T None None None None CBWD1|0.029140848|69.81%

CBWD2

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 8754_onol_s2_vs_onol_n_ucla TUMOR 2 rs2785346
dbSNP Clinvar
114218256 0.0 G A alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None CBWD2|0.017251238|75.7%

CCDC70

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 8754_onol_s2_vs_onol_n_ucla TUMOR 13 rs1054515
dbSNP Clinvar
52440130 0.0 A G alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.35583 0.35580 0.32324 0.51 0.00 None None None None None None CCDC70|0.003653963|87.51%

CCDC74B

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 8754_onol_s2_vs_onol_n_ucla TUMOR 2 rs2292302
dbSNP Clinvar
130902194 0.0 C T alt_allele_in_normal 0/1 0 SPLICE_SITE_REGION LOW None 0.44369 0.44370 0.16 0.63 None None None None None None CCDC74B|0.002020992|90.93%
View 8754_onol_s2_vs_onol_n_ucla TUMOR 2 rs28743163
dbSNP Clinvar
130900188 0.0 A G alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.50579 0.50580 0.81 0.00 None None None None None None CCDC74B|0.002020992|90.93%

CD97

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 8754_onol_s2_vs_onol_n_ucla TUMOR 19 rs2230748
dbSNP Clinvar
14512489 0.0 G A alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.21650 0.11587 1.00 0.00 None None None None None None ADGRE5|0.001053928|95.16%
View 8754_onol_s2_vs_onol_n_ucla TUMOR 19 rs201012570
dbSNP Clinvar
14499537 0.0 A G alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.12 0.04 None None None None None None ADGRE5|0.001053928|95.16%

CD99

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 8754_onol_s2_vs_onol_n_ucla TUMOR X rs5939299
dbSNP Clinvar
2609717 0.0 G T alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.24321 0.24320 0.12 0.02 None None None None None None CD99|0.003192915|88.33%

CDC27

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 8754_onol_s2_vs_onol_n_ucla TUMOR 17 rs62077261
dbSNP Clinvar
45219332 0.0 T G alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.11 0.01 None None None None None None CDC27|0.658499283|9.78%
View 8754_onol_s2_vs_onol_n_ucla TUMOR 17 rs372212798
dbSNP Clinvar
45234673 0.0 T C alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.45 0.00 None None None None None None CDC27|0.658499283|9.78%

CDH23

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 8754_onol_s2_vs_onol_n_ucla TUMOR 10 rs2290021
dbSNP Clinvar
73574843 0.0 G A alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.13978 0.13980 0.06933 None None None None None None CDH23|0.499757104|15.83%
View 8754_onol_s2_vs_onol_n_ucla TUMOR 10 rs10823829
dbSNP Clinvar
73466709 0.0 T C alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.20747 0.20750 0.13368 None None None None None None CDH23|0.499757104|15.83%

CDH4

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 8754_onol_s2_vs_onol_n_ucla TUMOR 20 rs3753045
dbSNP Clinvar
60509209 0.0 C T alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.16134 0.16130 0.18714 None None None None None None CDH4|0.197684425|36.97%
View 8754_onol_s2_vs_onol_n_ucla TUMOR 20 rs6142884
dbSNP Clinvar
60503350 0.0 A G alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.56729 0.56730 0.44802 1.00 0.00 None None None None None None CDH4|0.197684425|36.97%

CDHR4

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 8754_onol_s2_vs_onol_n_ucla TUMOR 3 rs73079003
dbSNP Clinvar
49832788 0.0 G A alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.06190 0.06190 0.09089 0.23 0.00 None None None None None None CDHR4|0.012630701|78.79%

CDRT1

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 8754_onol_s2_vs_onol_n_ucla TUMOR 17 rs777130119
dbSNP Clinvar
15522733 0.0 G A alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None CDRT1|0.012808391|78.64%

CEACAM6

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 8754_onol_s2_vs_onol_n_ucla TUMOR 19 rs1805223
dbSNP Clinvar
42260569 0.0 G A alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.25559 0.25560 0.24965 None None None None None None CEACAM6|0.001820089|91.48%

CEP170

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 8754_onol_s2_vs_onol_n_ucla TUMOR 1 rs2631166
dbSNP Clinvar
243328208 0.0 G A alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None CEP170|0.244807399|32.03%

CEP170B

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 8754_onol_s2_vs_onol_n_ucla TUMOR 14 rs2028414
dbSNP Clinvar
105349388 0.0 A C alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.51697 0.51700 0.38467 None None None None None None CEP170B|0.008847309|81.8%
View 8754_onol_s2_vs_onol_n_ucla TUMOR 14 rs761363671
dbSNP Clinvar
105356017 0.0 G C alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.87 None None None None None None CEP170B|0.008847309|81.8%

CHEK2

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 8754_onol_s2_vs_onol_n_ucla TUMOR 22 rs587780179
dbSNP Clinvar
29085140 0.0 G A alt_allele_in_normal 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.15 0.00 None None None None None None CHEK2|0.757603461|6.9%

CHRNA9

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 8754_onol_s2_vs_onol_n_ucla TUMOR 4 rs10022491
dbSNP Clinvar
40337908 0.0 T C alt_allele_in_normal 0/1 0 SYNONYMOUS_CODING LOW None 0.64437 0.64440 0.34546 None None None None None None CHRNA9|0.127142482|46.31%