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Genes:
AARS2, ABCC1, ABCC3, ABHD8, ACAP1, ADAM15, ADAMTS16, ADCY2, AEBP1, AGXT2, AHNAK, AHRR, AK8, ALAS1, ALDH16A1, ALDH18A1, ALDH5A1, ALOX15B, AMACR, AMER3, ANKRD13A, ANKRD52, ANKRD65, AP5B1, APEH, ARHGEF16, ARVCF, ASPA, ASS1, ATAD3C, ATF6B, ATP11A, ATP5I, ATP8B2, BAIAP3, BASP1, BAZ2A, BRPF1, BST1, BTAF1, C11orf16, C16orf3, C16orf96, C3, C5orf34, C6orf195, C6orf201, C6orf47, C7, C7orf60, CA11, CACNA1E, CACNA1H, CACNA1S, CAD, CALM1, CARD10, CCDC102A, CCDC120, CCDC152, CCDC176, CCDC88B, CCT5, CD2AP, CDC7, CECR5, CERS2, CHD3, CHRNB4, CILP, CLEC17A, CLIC1, CLIC6, CLPTM1L, CMBL, CNGB1, CNTLN, CNTN4, CNTNAP3, COG7, COL11A2, COL4A3BP, COPS8, CPEB2, CPXM1, CRIM1, CTC1, CTD-3193O13.9, CWH43, CYBA, CYP2W1, DAB2, DARS2, DAXX, DCLK2, DDX25, DHX34, DHX40, DKFZP434E1119, DLX4, DNAH2, DNAH5, DNAH8, DNMT1, DOHH, DPCR1, DROSHA, DSCAM, DSP, DYRK1A, ECE1, EFCAB12, EFCAB5, EFCAB6, EGFLAM, ELFN2, ELOVL5, EMC4, EMR3, ENDOV, EPPK1, EVI5L, EXOC3L4, EYA2, F13A1, F13B, F2, FAM161B, FAM173B, FAM178A, FAM205A, FAM206A, FAM217A, FAM65B, FARS2, FASTKD3, FER1L6, FGR, FHOD1, FILIP1, FN1, FNDC7, FOXD4, FOXO1, FSIP2, FUT5, FXR2, GAGE12F, GOLGA6L4, GPR128, GPR162, GPR25, GRAMD1A, GRK6, GUF1, HEATR6, HIST1H2BA, HIST1H3C, HYAL1, ILK, ILVBL, INO80, IQCC, IREB2, ITGAE, ITIH1, ITIH3, KAT8, KCNC3, KCNQ5, KDM1B, KDM4B, KDM8, KIAA0922, KIAA0947, KIAA1467, KIF13A, KIF22, KIT, KLK7, KLRB1, KMT2A, KRT2, KRTAP10-12, LAMA1, LAMA2, LDLR, LEF1, LIFR, LILRA2, LILRB5, LIMK2, LMBRD2, LMO2, LMOD1, LRFN4, LRIF1, LRP1, LRP4, LRRC10B, LRRC37A, LRRC9, LTA, LTBP4, MAD2L2, MAGEB2, MAK, MARCH11, MBD3L2, MCM7, MDM1, MEGF9, METTL14, MGAT5B, MLLT4, MLYCD, MMP17, MORC2, MPP6, MROH7, MST1, MUC17, MVB12B, MVP, MYBPC2, MYH1, MYO10, MYO7A, MYO9B, NBAS, NCOR1, NDUFB10, NDUFV3, NEURL4, NFKB2, NIN, NISCH, NLGN2, NLGN3, NLRP1, NLRP7, NMI, NOL7, NOTCH4, NPC1L1, NRP2, OMG, OR10A2, OR10J3, OR13C8, OR2T8, OR6C6, OR6J1, OR7D4, ORC2, ORMDL2, PAK2, PANK3, PATL1, PDLIM7, PDPR, PDZD2, PEAK1, PEG3, PER3, PGD, PGM2, PHC2, PHYH, PITPNM2, PKD1, PLCG2, PLD2, PLEKHG4B, PLEKHG5, PLEKHM2, PMS2, POLE2, POLH, POLM, POMT2, PPFIA4, PPP1R12A, PPP1R1A, PPP2R1A, PRAMEF18, PRICKLE3, PRKG1, PROM1, PRPF3, PRSS12, PRUNE, PSMC3, PTBP3, PTPN23, PVR, RANBP3L, RAPGEF3, RBL1, RBM15B, RBM25, RECK, RHPN1, RICTOR, RNF168, ROBO4, RPL9, RPP40, RSL1D1, RSPH6A, RSPO3, SCAF1, SCD, SCN3A, SECISBP2L, SEMA5A, SERPINB6, SERPINE1, SHCBP1, SIGLEC7, SLC10A4, SLC1A3, SLC22A13, SLC34A2, SLC6A19, SLC9A3, SLCO1A2, SLCO5A1, SLIT2, SNAP47, SOGA1, SOGA2, SPEF1, SPEF2, SPEN, SPOCK2, SPRYD3, SPTA1, SRL, SSFA2, STC1, STK36, SULT1A1, SULT1A2, SYNE2, TAF10, TBC1D20, TBC1D32, TCF3, TDP2, TEX2, TEX28P1, TFRC, TGFBR3L, THEG, TMEM194A, TMEM30B, TMEM80, TMPRSS3, TNR, TNRC6C, TOM1, TOP2A, TOP3A, TP53, TPM2, TPPP, TRAF3, TRAPPC11, TRAT1, TRIM49B, TRIOBP, TRIP13, TRPC1, UBLCP1, USP30, UTP20, VARS2, VCP, VN1R2, VPS18, VWA8, WARS2, WDR11, WDR13, WDR18, WDR5, WDR81, WHSC1L1, WIZ, ZBTB41, ZC3H3, ZER1, ZFPM1, ZFR, ZFYVE1, ZFYVE16, ZMAT4, ZMIZ2, ZNF225, ZNF414, ZNF461, ZNF541, ZNF550, ZNF563, ZNF587B, ZNF622, ZNF646, ZZEF1,

Genes at Omim

AARS2, ALDH18A1, ALDH5A1, AMACR, ASPA, ASS1, C3, C7, CACNA1H, CACNA1S, CAD, CALM1, CCT5, CD2AP, CILP, CNGB1, COG7, COL11A2, COL4A3BP, CTC1, CYBA, DARS2, DLX4, DNAH5, DNMT1, DSP, DYRK1A, ECE1, ELOVL5, F13A1, F13B, F2, FAM65B, FARS2, FN1, GUF1, HYAL1, KCNC3, KIF22, KIT, KMT2A, KRT2, LAMA1, LAMA2, LDLR, LEF1, LIFR, LMO2, LRP4, LTA, LTBP4, MAK, MLYCD, MORC2, MYO7A, MYO9B, NBAS, NFKB2, NIN, NLGN3, NLRP1, NPC1L1, PER3, PHYH, PKD1, PLCG2, PLEKHG5, PMS2, POLH, POMT2, PPP2R1A, PRKG1, PROM1, PRPF3, PRSS12, RNF168, SERPINB6, SLC1A3, SLC34A2, SLC6A19, SLC9A3, SPTA1, SYNE2, TBC1D20, TCF3, TDP2, TFRC, TMPRSS3, TOP2A, TP53, TPM2, TRAF3, TRAPPC11, TRIOBP, VARS2, VCP, WDR11, WDR81, WHSC1L1,
AARS2 Combined oxidative phosphorylation deficiency 8, 614096 (3)
Leukoencephalopathy, progressive, with ovarian failure, 615889 (3)
ALDH18A1 Cutis laxa, autosomal dominant 3, 616603 (3)
Cutis laxa, autosomal recessive, type IIIA, 219150 (3)
Spastic paraplegia 9A, autosomal dominant, 601162 (3)
Spastic paraplegia 9B, autosomal recessive, 616586 (3)
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency, 271980 (3)
AMACR Alpha-methylacyl-CoA racemase deficiency, 614307 (3)
Bile acid synthesis defect, congenital, 4, 214950 (3)
ASPA Canavan disease, 271900 (3)
ASS1 Citrullinemia, 215700 (3)
C3 C3 deficiency, 613779 (3)
{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
{Macular degeneration, age-related, 9}, 611378 (3)
C7 C7 deficiency, 610102 (3)
CACNA1H Hyperaldosteronism, familial, type IV, 617027 (3)
{Epilepsy, childhood absence, susceptibility to, 6}, 611942 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 6}, 611942 (3)
CACNA1S Hypokalemic periodic paralysis, type 1, 170400 (3)
{Malignant hyperthermia susceptibility 5}, 601887 (3)
{Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)
CAD ?Congenital disorder of glycosylation, type Iz, 616457 (3)
CALM1 Long QT syndrome 14, 616247 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 4, 614916 (3)
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia, 256840 (3)
CD2AP Glomerulosclerosis, focal segmental, 3, 607832 (3)
CILP {Lumbar disc disease, susceptibility to}, 603932 (3)
CNGB1 Retinitis pigmentosa 45, 613767 (3)
COG7 Congenital disorder of glycosylation, type IIe, 608779 (3)
COL11A2 Deafness, autosomal dominant 13, 601868 (3)
Deafness, autosomal recessive 53, 609706 (3)
Fibrochondrogenesis 2, 614524 (3)
Otospondylomegaepiphyseal dysplasia, 215150 (3)
Stickler syndrome, type III, 184840 (3)
Weissenbacher-Zweymuller syndrome, 277610 (3)
COL4A3BP Mental retardation, autosomal dominant 34, 616351 (3)
CTC1 Cerebroretinal microangiopathy with calcifications and cysts, 612199 (3)
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)
DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 (3)
DLX4 ?Orofacial cleft 15, 616788 (3)
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644 (3)
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)
Neuropathy, hereditary sensory, type IE, 614116 (3)
DSP Arrhythmogenic right ventricular dysplasia 8, 607450 (3)
Cardiomyopathy, dilated, with woolly hair and keratoderma, 605676 (3)
Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, 615821 (3)
Epidermolysis bullosa, lethal acantholytic, 609638 (3)
Keratosis palmoplantaris striata II, 612908 (3)
Skin fragility-woolly hair syndrome, 607655 (3)
DYRK1A Mental retardation, autosomal dominant 7, 614104 (3)
ECE1 Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3)
{Hypertension, essential, susceptibility to}, 145500 (3)
ELOVL5 Spinocerebellar ataxia 38, 615957 (3)
F13A1 Factor XIIIA deficiency, 613225 (3)
{Myocardial infarction, protection against}, 608446 (3)
{Venous thrombosis, protection against}, 188050 (3)
F13B Factor XIIIB deficiency, 613235 (3)
F2 Dysprothrombinemia, 613679 (3)
Hypoprothrombinemia, 613679 (3)
Thrombophilia due to thrombin defect, 188050 (3)
{Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3)
{Stroke, ischemic, susceptibility to}, 601367 (3)
FAM65B ?Deafness, autosomal recessive 104, 616515 (3)
FARS2 ?Spastic paraplegia 77, autosomal recessive, 617046 (3)
Combined oxidative phosphorylation deficiency 14, 614946 (3)
FN1 Glomerulopathy with fibronectin deposits 2, 601894 (3)
Plasma fibronectin deficiency, 614101 (1)
GUF1 ?Epileptic encephalopathy, early infantile, 40, 617065 (3)
HYAL1 ?Mucopolysaccharidosis type IX, 601492 (3)
KCNC3 Spinocerebellar ataxia 13, 605259 (3)
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546 (3)
KIT Gastrointestinal stromal tumor, familial, 606764 (3)
Germ cell tumors, 273300 (3)
Leukemia, acute myeloid, 601626 (3)
Mast cell disease, 154800 (3)
Piebaldism, 172800 (3)
KMT2A Leukemia, myeloid/lymphoid or mixed-lineage (2)
Wiedemann-Steiner syndrome, 605130 (3)
KRT2 Ichthyosis bullosa of Siemens, 146800 (3)
LAMA1 Poretti-Boltshauser syndrome, 615960 (3)
LAMA2 Muscular dystrophy, congenital merosin-deficient, 607855 (3)
Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855 (3)
LDLR Hypercholesterolemia, familial, 143890 (3)
LDL cholesterol level QTL2, 143890 (3)
LEF1 Sebaceous tumors, somatic (3)
LIFR Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)
LMO2 Leukemia, acute T-cell (2)
LRP4 ?Myasthenic syndrome, congenital, 17, 616304 (3)
Cenani-Lenz syndactyly syndrome, 212780 (3)
Sclerosteosis 2, 614305 (3)
LTA {Leprosy, susceptibility to, 4}, 610988 (3)
{Myocardial infarction, susceptibility to}, 608446 (3)
{Psoriatic arthritis, susceptibility to}, 607507 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MAK Retinitis pigmentosa 62, 614181 (3)
MLYCD Malonyl-CoA decarboxylase deficiency, 248360 (3)
MORC2 Charcot-Marie-Tooth disease, axonal, type 2Z, 616688 (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)
NBAS Infantile liver failure syndrome 2, 616483 (3)
Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3)
NFKB2 Immunodeficiency, common variable, 10, 615577 (3)
NIN ?Seckel syndrome 7, 614851 (3)
NLGN3 {Asperger syndrome susceptibility, X-linked 1}, 300494 (3)
{Autism susceptibility, X-linked 1}, 300425 (3)
NLRP1 ?Corneal intraepithelial dyskeratosis and ectodermal dysplasia, 615225 (3)
{Vitiligo-associated multiple autoimmune disease susceptibility 1}, 606579 (3)
NPC1L1 [Ezetimibe, nonresponse to] (3)
PER3 ?Advanced sleep phase syndrome, familial, 3, 616882 (3)
PHYH Refsum disease, 266500 (3)
PKD1 Polycystic kidney disease, adult type I, 173900 (3)
PLCG2 Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)
Familial cold autoinflammatory syndrome 3, 614468 (3)
PLEKHG5 Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3)
Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3)
PMS2 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Mismatch repair cancer syndrome, 276300 (3)
POLH Xeroderma pigmentosum, variant type, 278750 (3)
POMT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2, 613156 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2, 613158 (3)
PPP2R1A Mental retardation, autosomal dominant 36, 616362 (3)
PRKG1 Aortic aneurysm, familial thoracic 8, 615436 (3)
PROM1 Cone-rod dystrophy 12, 612657 (3)
Macular dystrophy, retinal, 2, 608051 (3)
Retinitis pigmentosa 41, 612095 (3)
Stargardt disease 4, 603786 (3)
PRPF3 Retinitis pigmentosa 18, 601414 (3)
PRSS12 Mental retardation, autosomal recessive 1, 249500 (3)
RNF168 RIDDLE syndrome, 611943 (3)
SERPINB6 ?Deafness, autosomal recessive 91, 613453 (3)
SLC1A3 Episodic ataxia, type 6, 612656 (3)
SLC34A2 Pulmonary alveolar microlithiasis, 265100 (3)
SLC6A19 Hartnup disorder, 234500 (3)
Hyperglycinuria, 138500 (3)
Iminoglycinuria, digenic, 242600 (3)
SLC9A3 Diarrhea 8, secretory sodium, congenital, 616868 (3)
SPTA1 Elliptocytosis-2, 130600 (3)
Pyropoikilocytosis, 266140 (3)
Spherocytosis, type 3, 270970 (3)
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant, 612999 (3)
TBC1D20 Warburg micro syndrome 4, 615663 (3)
TCF3 Agammaglobulinemia 8, autosomal dominant, 616941 (3)
TDP2 Spinocerebellar ataxia, autosomal recessive 23, 616949 (3)
TFRC Immunodeficiency 46, 616740 (3)
TMPRSS3 Deafness, autosomal recessive 8/10, 601072 (3)
TOP2A DNA topoisomerase II, resistance to inhibition of, by amsacrine (3)
TP53 Adrenal cortical carcinoma, 202300 (3)
Breast cancer, 114480 (3)
Choroid plexus papilloma, 260500 (3)
Colorectal cancer, 114500 (3)
Hepatocellular carcinoma, 114550 (3)
Li-Fraumeni syndrome, 151623 (3)
Nasopharyngeal carcinoma, 607107 (3)
Osteosarcoma, 259500 (3)
Pancreatic cancer, 260350 (3)
{Basal cell carcinoma 7}, 614740 (3)
{Glioma susceptibility 1}, 137800 (3)
TPM2 Arthrogryposis multiplex congenita, distal, type 1, 108120 (3)
Arthrogryposis, distal, type 2B, 601680 (3)
CAP myopathy 2, 609285 (3)
Nemaline myopathy 4, autosomal dominant, 609285 (3)
TRAF3 {?Herpes simplex encephalitis, susceptibility to, 3}, 614849 (3)
TRAPPC11 Muscular dystrophy, limb-girdle, type 2S, 615356 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)
VARS2 Combined oxidative phosphorylation deficiency 20, 615917 (3)
VCP Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 (3)
Charcot-Marie-Tooth disease, type 2Y, 616687 (3)
Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia 1, 167320 (3)
WDR11 Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3)
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)
WHSC1L1 Leukemia, acute myeloid, 601626 (3)

Genes at Clinical Genomics Database

AARS2, ALDH18A1, ALDH5A1, AMACR, ASPA, ASS1, C3, C7, CACNA1S, CAD, CALM1, CCT5, CD2AP, CNGB1, COG7, COL11A2, COL4A3BP, CTC1, CYBA, DARS2, DLX4, DNAH5, DNMT1, DSP, DYRK1A, ECE1, ELOVL5, F13A1, F13B, F2, FAM65B, FARS2, FN1, HYAL1, KCNC3, KIF22, KIT, KMT2A, KRT2, LAMA1, LAMA2, LDLR, LIFR, LRP1, LRP4, LTBP4, MAK, MLYCD, MORC2, MYO7A, NBAS, NFKB2, NIN, NLGN3, NLRP1, NLRP7, NPC1L1, PER3, PHYH, PKD1, PLCG2, PLEKHG5, PMS2, POLH, POMT2, PPP2R1A, PRKG1, PROM1, PRPF3, PRSS12, RNF168, SERPINB6, SERPINE1, SLC1A3, SLC34A2, SLC6A19, SPTA1, SYNE2, TBC1D20, TCF3, TDP2, TFRC, TMPRSS3, TP53, TPM2, TRAF3, TRAPPC11, TRIOBP, VARS2, VCP, WDR11, WDR81,
AARS2 Leukoencephalopathy, progressive, with ovarian failure
ALDH18A1 Spastic paraplegia 9B, autosomal recessive
Cutis laxa, autosomal recessive, type IIIA
Spastic paraplegia 9A, autosomal dominant
Cutis laxa, autosomal dominant 3
ALDH5A1 Succinic semialdehyde dehydrogenase deficiency
AMACR Alpha-methylacyl-CoA racemase deficiency
Bile acid synthesis defect, congenital, 4
ASPA Aspartoacylase deficiency (Canavan disease)
ASS1 Citrullinemia
C3 Hemolytic uremic syndrome, atypical, susceptibility to, 5
Complement component 3 deficiency, autosomal recessive
C7 Complement component 7 deficiency
CACNA1S Hypokalemic periodic paralysis, type 1
Thyrotoxic period paralysis, susceptibility 1
Malignant hyperthermia susceptibility 5
CAD Congenital disorder of glycosylation, type Iz
CALM1 Ventricular tachycardia, catecholaminergic polymorphic, 4
Recurrent cardiac arrest, infantile
Long QT syndrome 14
CCT5 Neuropathy, hereditary sensory, with spastic paraplegia
CD2AP Focal segmental glomerulosclerosis 3
CNGB1 Retinitis pigmentosa 45
COG7 Congenital disorder of glycosylation, type IIe
COL11A2 Stickler syndrome, type III
Otospondylomegaepiphyseal dysplasia
Weissenbacher-Zweymuller syndrome
Fibrochondrogenesis 2
Deafness, autosomal recessive 53
Deafness, autosomal dominant 13
COL4A3BP Mental retardation, autosomal dominant 34
CTC1 Cerebroretinal microangiopathy with calcifications and cysts
CYBA Chronic granulomatous disease, autosomal, due to deficiency of CYBA
DARS2 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
DLX4 Orofacial cleft 15
DNAH5 Ciliary dyskinesia, primary, 3, with or without situs inversus
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
Neuropathy, hereditary sensory, type IE
DSP Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
Cardiomyopathy, dilated, with wooly hair and keratoderma
Arrhythmogenic right ventricular dysplasia, familial 8
DYRK1A Mental retardation, autosomal dominant 7
ECE1 Hirschsprung disease, cardiac defects, and autonomic dysfunction
ELOVL5 Spinocerebellar ataxia 39
F13A1 Factor XIIIA deficiency
F13B Factor XIIIB deficiency
F2 Thrombophilia due to thrombin defect
Prothrombin deficiency, congenital
FAM65B Deafness, autosomal recessive 104
FARS2 Combined oxidative phosphorylation deficiency 14
FN1 Glomerulopathy with fibronectin deposits 2
HYAL1 Mucopolysaccharidosis type IX
KCNC3 Spinocerebellar ataxia 13
KIF22 Spondyloepimetaphyseal dysplasia with joint laxity, type 2
KIT Gastrointestinal stromal tumor
KMT2A Wiedemann-Steiner syndrome
KRT2 Ichthyosis exfoliativa
Ichthyosis bullosa of Siemens
LAMA1 Poretti-Boltshauser syndrome
LAMA2 Schizophrenia
Muscular dystrophy, congenital merosin-deficient, 1A
LDLR Hypercholesterolemia, familial
LIFR Stuve-Wiedemann syndrome
LRP1 Schizophrenia
LRP4 Sclerosteosis 2
Myasthenic syndrome, congenital 17
Cenani-Lenz syndactyly syndrome
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MAK Retinitis pigmentosa 62
MLYCD Malonyl-CoA decarboxylase deficiency
MORC2 Charcot-Marie-Tooth disease type, axonal, type 2Z
MYO7A Usher syndrome, type 1B
Deafness, autosomal recessive 2
NBAS Short stature, optic nerve atrophy, and Pelger-Huet anomaly (SOPH syndrome)
Infantile liver failure syndrome 2
NFKB2 Immunodeficiency, common variable, 10
NIN Seckel syndrome 7
NLGN3 Autism, X-linked 1
Asperger syndrome, X-linked 1
NLRP1 Corneal intraepithelial dyskeratosis and ectodermal dysplasia
NLRP7 Hydatidiform mole, recurrent, 1
NPC1L1 Ezetimibe, nonresponse to
PER3 Advanced sleep phase syndrome, familial, 3
PHYH Refsum disease
PKD1 Polycystic kidney disease, adult type I
PLCG2 Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)
Familial cold autoinflammatory syndrome 3 (PLAID)
PLEKHG5 Spinal muscular atrophy, distal, autosomal recessive, 4
Charcot-Marie-Tooth disease C, recessive intermediate
PMS2 Mismatch repair cancer syndrome
Colorectal cancer, hereditary nonpolyposis type 4
POLH Xeroderma pigmentosum, variant type
POMT2 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C 2
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2
PPP2R1A Mental retardation, autosomal dominant 36
PRKG1 Aortic aneurysm, familial thoracic 8
PROM1 Retinitis pigmentosa 41
Stargardt disease 4
Macular dystrophy, retinal, 2
Cone-rod dystrophy 12
PRPF3 Retinitis pigmentosa 18
PRSS12 Mental retardation, autosomal recessive 1
RNF168 RIDDLE syndrome
SERPINB6 Deafness, autosomal recessive 91
SERPINE1 Plasminogen activator inhibitor-1 deficiency
SLC1A3 Episodic ataxia, type 6
SLC34A2 Pulmonary alveolar microlithiasis
SLC6A19 Hartnup disease
SPTA1 Ellipsocytosis 2
Pyropoikilocytosis , hereditary
Spherocytosis, type 3
SYNE2 Emery-Dreifuss muscular dystrophy 5, autosomal dominant
TBC1D20 Warburg micro syndrome 4
TCF3 Agammaglobulinemia 8, autosomal dominant
TDP2 Spinocerebellar ataxia, autosomal recessive 23
TFRC Immunodeficiency 46
TMPRSS3 Deafness, autosomal recessive 8
Deafness, autosomal recessive 10
TP53 Colorectal cancer
Adrenocortical carcinoma
Non-Hodgkin lymphoma
Hepatoblastoma
Breast cancer, familial
Osteogenic sarcoma
Ependymoma, intracranial
Choroid plexus papilloma
Li-Fraumeni syndrome
TPM2 Arthrogryposis, distal, type 2B
Arthrogryposis, distal, type 1A
CAP myopathy
Nemaline myopathy 4
TRAF3 Herpes simplex encephalitis, susceptibility to, 3
TRAPPC11 Limb-girdle muscular dystrophy, type 2S
TRIOBP Deafness, autosomal recessive 28
VARS2 Combined oxidative phosphorylation deficiency 20
VCP Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1
Charcot-Marie-Tooth disease type, axonal type, 2Y
Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia
WDR11 Kallmann syndrome
Hypogonadotropic hypogonadism
WDR81 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2

Genes at HGMD

Summary

Number of Variants: 456
Number of Genes: 409

Export to: CSV

AARS2

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 23 recalibrated filtered postcgp gqfiltered 6 . 44272822 7310.76 C T PASS 1/1 91 STOP_GAINED HIGH NONSENSE None None None None None None None

ABCC1

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 23 recalibrated filtered postcgp gqfiltered 16 . 16138344 14960.56 GT G PASS 1/1 85 FRAME_SHIFT HIGH None None None None None None None

ABCC3

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 23 recalibrated filtered postcgp gqfiltered 17 . 48762128 756.52 G A PASS 1/1 18 STOP_GAINED HIGH NONSENSE None None None None None None None

ABHD8

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 23 recalibrated filtered postcgp gqfiltered 19 . 17405591 173947.24 A AG... PASS 1/1 52 FRAME_SHIFT HIGH None None None None None None None

ACAP1

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 23 recalibrated filtered postcgp gqfiltered 17 . 7251263 1613.9 T C PASS 0/1 36 PROTEIN_INTERACTION_LOCUS HIGH 0.34 None None None None None None None

ADAM15

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 23 recalibrated filtered postcgp gqfiltered 1 . 155034817 31846.75 C T PASS 0/1 10 STOP_GAINED HIGH NONSENSE None None None None None None None

ADAMTS16

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 23 recalibrated filtered postcgp gqfiltered 5 . 5186299 1002.9 A AGG PASS 1/1 5 FRAME_SHIFT HIGH None None None None None None None

ADCY2

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 23 recalibrated filtered postcgp gqfiltered 5 . 7757570 235.63 TG... T PASS 0/1 21 FRAME_SHIFT HIGH None None None None None None None

AEBP1

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 23 recalibrated filtered postcgp gqfiltered 7 . 44146187 945.79 GC G PASS 0/1 13 FRAME_SHIFT HIGH None None None None None None None

AGXT2

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 23 recalibrated filtered postcgp gqfiltered 5 . 35033601 14530.77 T C PASS 0/1 11 STOP_GAINED HIGH NONSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 35026594 1190.28 GA G,GAA PASS 0/1 15 FRAME_SHIFT HIGH None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 11 . 62296427 33097.79 C CA PASS 1/1 72 FRAME_SHIFT HIGH None None None None None None None

AHRR

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 23 recalibrated filtered postcgp gqfiltered 5 . 428051 5249.91 GC G PASS 1/1 28 FRAME_SHIFT HIGH None None None None None None None

AK8

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 23 recalibrated filtered postcgp gqfiltered 9 . 135702420 25393.63 A AC PASS 0/1 15 FRAME_SHIFT HIGH None None None None None None None

ALAS1

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 23 recalibrated filtered postcgp gqfiltered 3 . 52238929 2980.7 C CG... PASS 0/1 12 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None

ALDH16A1

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 23 recalibrated filtered postcgp gqfiltered 19 . 49971760 46851.2 G A PASS 0/1 240 STOP_GAINED HIGH NONSENSE None None None None None None None

ALDH18A1

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 23 recalibrated filtered postcgp gqfiltered 10 . 97385107 23560.28 GA... G,* PASS 2/2 9 PROTEIN_INTERACTION_LOCUS HIGH None None None None None None None

ALDH5A1

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 23 recalibrated filtered postcgp gqfiltered 6 . 24520633 249.71 AGT AG... PASS 0/1 5 FRAME_SHIFT HIGH None None None None None None None

ALOX15B

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 23 recalibrated filtered postcgp gqfiltered 17 . 7945769 67584.53 C G PASS 0/1 60 PROTEIN_INTERACTION_LOCUS HIGH 0.52 0.00 None None None None None None None

AMACR

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 23 recalibrated filtered postcgp gqfiltered 5 . 34008101 2993.35 CC... C PASS 0/1 13 FRAME_SHIFT HIGH None None None None None None None

AMER3

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 23 recalibrated filtered postcgp gqfiltered 2 . 131521473 206.64 G T PASS 0/1 11 STOP_GAINED HIGH NONSENSE None None None None None None None

ANKRD13A

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 23 recalibrated filtered postcgp gqfiltered 12 . 110451052 1634.57 C T PASS 1/1 35 STOP_GAINED+SPLICE_SITE_REGION HIGH NONSENSE None None None None None None None

ANKRD52

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 23 recalibrated filtered postcgp gqfiltered 12 . 56638439 342.17 GA G,GAA PASS 0/1 25 FRAME_SHIFT HIGH None None None None None None None

ANKRD65

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 23 recalibrated filtered postcgp gqfiltered 1 . 1355779 91.05 GA G PASS 1/1 2 FRAME_SHIFT HIGH None None None None None None None

AP5B1

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 23 recalibrated filtered postcgp gqfiltered 11 . 65547343 16627.52 CG C PASS 0/1 5 FRAME_SHIFT HIGH None None None None None None None

APEH

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 23 recalibrated filtered postcgp gqfiltered 3 . 49720317 254.45 GA G,GAA PASS 1/1 2 FRAME_SHIFT HIGH None None None None None None None

ARHGEF16

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 23 recalibrated filtered postcgp gqfiltered 1 . 3396399 1685.06 C T PASS 0/1 79 STOP_GAINED HIGH NONSENSE None None None None None None None

ARVCF

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 23 recalibrated filtered postcgp gqfiltered 22 . 19968739 14958.26 G GC PASS 0/1 55 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 22 . 19967393 164.28 AT A,ATT PASS 0/2 30 FRAME_SHIFT HIGH None None None None None None None

ASPA

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 23 recalibrated filtered postcgp gqfiltered 17 . 3397649 1127.63 G A PASS 0/1 75 PROTEIN_INTERACTION_LOCUS HIGH 0.26 0.41 None None None None None None None

ASS1

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 23 recalibrated filtered postcgp gqfiltered 9 . 133333974 3694.84 A G PASS 1/1 3 PROTEIN_INTERACTION_LOCUS HIGH 0.00 0.95 None None None None None None None

ATAD3C

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 23 recalibrated filtered postcgp gqfiltered 1 . 1387763 20771.28 CCT C PASS 1/1 15 FRAME_SHIFT HIGH None None None None None None None

ATF6B

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 23 recalibrated filtered postcgp gqfiltered 6 . 32095904 4114.42 C T PASS 0/1 117 STOP_GAINED HIGH NONSENSE 4.29 None None None None None None None

ATP11A

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 23 recalibrated filtered postcgp gqfiltered 13 . 113459281 526.63 G A PASS 0/1 59 STOP_GAINED HIGH NONSENSE None None None None None None None

ATP5I

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 23 recalibrated filtered postcgp gqfiltered 4 . 667723 13.63 GC G PASS 0/1 12 FRAME_SHIFT HIGH None None None None None None None

ATP8B2

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 23 recalibrated filtered postcgp gqfiltered 1 . 154321356 52.69 CCT C PASS 0/1 7 FRAME_SHIFT HIGH None None None None None None None

BAIAP3

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 23 recalibrated filtered postcgp gqfiltered 16 . 1397340 342.87 CCG C,* PASS 0/1 40 FRAME_SHIFT HIGH None None None None None None None

BASP1

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 23 recalibrated filtered postcgp gqfiltered 5 . 17275944 9590.99 CC... CC... PASS 1/1 1 FRAME_SHIFT HIGH None None None None None None None

BAZ2A

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 23 recalibrated filtered postcgp gqfiltered 12 . 56994757 92.39 CGT C PASS 0/1 50 FRAME_SHIFT HIGH None None None None None None None

BRPF1

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 23 recalibrated filtered postcgp gqfiltered 3 . 9781618 322.05 T G PASS 0/1 43 STOP_GAINED HIGH NONSENSE None None None None None None None

BST1

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 23 recalibrated filtered postcgp gqfiltered 4 . 15704879 12821.84 G GTC PASS 0/1 60 FRAME_SHIFT HIGH None None None None None None None

BTAF1

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 23 recalibrated filtered postcgp gqfiltered 10 . 93702253 16.64 CA C PASS 0/1 43 FRAME_SHIFT HIGH None None None None None None None

C11orf16

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 23 recalibrated filtered postcgp gqfiltered 11 . 8947331 3758.27 GA... G PASS 1/1 54 FRAME_SHIFT HIGH None None None None None None None

C16orf3

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 23 recalibrated filtered postcgp gqfiltered 16 . 90095557 19095.66 GT G PASS 1/1 13 FRAME_SHIFT HIGH None None None None None None None

C16orf96

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 23 recalibrated filtered postcgp gqfiltered 16 . 4650317 7124.55 CAAA CA... PASS 1/1 1 STOP_LOST+CODON_DELETION HIGH None None None None None None None

C3

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 23 recalibrated filtered postcgp gqfiltered 19 . 6690735 10313.28 A G PASS 0/1 55 PROTEIN_INTERACTION_LOCUS HIGH None None None None None None None

C5orf34

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 23 recalibrated filtered postcgp gqfiltered 5 . 43509360 117207.93 T TC PASS 1/1 110 FRAME_SHIFT HIGH None None None None None None None

C6orf195

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 23 recalibrated filtered postcgp gqfiltered 6 . 2623696 11021.39 G A PASS 0/1 42 STOP_GAINED HIGH NONSENSE 0.69 None None None None None None None

C6orf201

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 23 recalibrated filtered postcgp gqfiltered 6 . 4122224 1086.77 CT C,CTT PASS 0/1 3 FRAME_SHIFT HIGH None None None None None None None

C6orf47

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 23 recalibrated filtered postcgp gqfiltered 6 . 31626851 44680.67 T A PASS 1/1 33 STOP_GAINED HIGH NONSENSE None None None None None None None

C7

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 23 recalibrated filtered postcgp gqfiltered 5 . 40950055 2537.4 C CT PASS 0/1 73 FRAME_SHIFT HIGH None None None None None None None

C7orf60

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 23 recalibrated filtered postcgp gqfiltered 7 . 112461852 11995.48 ATT AT,A PASS 0/1 19 FRAME_SHIFT HIGH None None None None None None None

CA11

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 23 recalibrated filtered postcgp gqfiltered 19 . 49148871 26806.13 GT G PASS 0/1 33 FRAME_SHIFT HIGH None None None None None None None

CACNA1E

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 23 recalibrated filtered postcgp gqfiltered 1 . 181745330 7448.38 AT A,TT PASS 0/1 30 FRAME_SHIFT HIGH None None None None None None None

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 23 recalibrated filtered postcgp gqfiltered 16 . 1261512 3602.67 G GGGCA PASS 0/1 94 FRAME_SHIFT HIGH None None None None None None None

CACNA1S

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 23 recalibrated filtered postcgp gqfiltered 1 . 201039454 2466.88 T TG PASS 0/1 67 FRAME_SHIFT HIGH None None None None None None None

CAD

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 23 recalibrated filtered postcgp gqfiltered 2 . 27460932 29.63 CA C PASS 0/1 10 FRAME_SHIFT HIGH None None None None None None None

CALM1

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 23 recalibrated filtered postcgp gqfiltered 14 . 90870805 14.03 CTT C PASS 0/1 6 FRAME_SHIFT HIGH None None None None None None None

CARD10

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 23 recalibrated filtered postcgp gqfiltered 22 . 37912041 36031.18 AT... AT... PASS 0/1 15 FRAME_SHIFT HIGH None None None None None None None

CCDC102A

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 23 recalibrated filtered postcgp gqfiltered 16 . 57562640 1793.43 C T PASS 1/1 6 STOP_GAINED HIGH NONSENSE None None None None None None None

CCDC120

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 23 recalibrated filtered postcgp gqfiltered X . 48921964 29.95 AC A PASS 0/1 3 FRAME_SHIFT HIGH None None None None None None None

CCDC152

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 23 recalibrated filtered postcgp gqfiltered 5 . 42779584 423.51 G GA PASS 0/1 34 FRAME_SHIFT HIGH None None None None None None None

CCDC176

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 23 recalibrated filtered postcgp gqfiltered 14 . 74516788 985.11 GT G PASS 1/1 12 FRAME_SHIFT HIGH None None None None None None None

CCDC88B

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 23 recalibrated filtered postcgp gqfiltered 11 . 64119002 23.77 C T PASS 0/1 7 STOP_GAINED HIGH NONSENSE None None None None None None None

CCT5

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 23 recalibrated filtered postcgp gqfiltered 5 . 10263351 52324.85 GA G,* PASS 2/2 41 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10263342 77587.28 AG AGG,* PASS 2/2 47 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10263350 50116.96 GGA G,* PASS 2/2 41 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 5 . 10263341 78955.33 GA G PASS 1/1 47 FRAME_SHIFT HIGH None None None None None None None

CD2AP

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 23 recalibrated filtered postcgp gqfiltered 6 . 47544817 21.65 TA T PASS 0/1 8 FRAME_SHIFT HIGH None None None None None None None

CDC7

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 23 recalibrated filtered postcgp gqfiltered 1 . 91981404 17685.6 T TTGTA PASS 0/1 12 FRAME_SHIFT HIGH None None None None None None None

CECR5

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 23 recalibrated filtered postcgp gqfiltered 22 rs776726039
dbSNP
17619195 357.71 G A PASS 0/1 6 STOP_GAINED HIGH NONSENSE None None None None None None None

CERS2

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 23 recalibrated filtered postcgp gqfiltered 1 . 150939931 520.63 C T PASS 0/1 49 STOP_GAINED HIGH NONSENSE None None None None None None None

CHD3

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 23 recalibrated filtered postcgp gqfiltered 17 . 7798808 5612.03 GC... G PASS 0/1 6 FRAME_SHIFT HIGH None None None None None None None

CHRNB4

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 23 recalibrated filtered postcgp gqfiltered 15 . 78933471 1347.43 CT C PASS 0/1 69 FRAME_SHIFT HIGH None None None None None None None

CILP

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 23 recalibrated filtered postcgp gqfiltered 15 . 65490113 71534.98 A AT PASS 0/1 10 FRAME_SHIFT HIGH None None None None None None None

CLEC17A

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 23 recalibrated filtered postcgp gqfiltered 19 . 14720942 1418.17 AC A PASS 0/1 93 FRAME_SHIFT HIGH None None None None None None None

CLIC1

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 23 recalibrated filtered postcgp gqfiltered 6 . 31701372 9191.78 TAC T PASS 0/1 22 FRAME_SHIFT HIGH None None None None None None None

CLIC6

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 23 recalibrated filtered postcgp gqfiltered 21 . 36041896 4088.5 C CA... PASS 0/1 12 FRAME_SHIFT HIGH None None None None None None None

CLPTM1L

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 23 recalibrated filtered postcgp gqfiltered 5 . 1335270 4787.37 CTG C PASS 0/1 27 FRAME_SHIFT HIGH None None None None None None None

CMBL

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 23 recalibrated filtered postcgp gqfiltered 5 . 10282367 22511.16 C T PASS 0/1 8 STOP_GAINED HIGH NONSENSE None None None None None None None

CNGB1

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 23 recalibrated filtered postcgp gqfiltered 16 . 57957219 23737.74 GC G PASS 1/1 26 FRAME_SHIFT HIGH None None None None None None None

CNTLN

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 23 recalibrated filtered postcgp gqfiltered 9 . 17394538 62447.53 C T PASS 1/1 6 STOP_GAINED HIGH NONSENSE 0.55 None None None None None None None

CNTN4

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 23 recalibrated filtered postcgp gqfiltered 3 . 3076321 4403.44 TTG T PASS 0/1 27 FRAME_SHIFT HIGH None None None None None None None

CNTNAP3

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 23 recalibrated filtered postcgp gqfiltered 9 . 39088492 58454.83 T A VQSRTrancheSNP99.90to100.00 0/1 68 STOP_GAINED HIGH NONSENSE 0.25 None None None None None None None

COG7

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 23 recalibrated filtered postcgp gqfiltered 16 . 23445969 4756.32 TAA T,TA PASS 0/1 2 FRAME_SHIFT HIGH None None None None None None None

COL11A2

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 23 recalibrated filtered postcgp gqfiltered 6 . 33133423 1023.07 T TA PASS 1/1 15 FRAME_SHIFT HIGH None None None None None None None

COL4A3BP

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 23 recalibrated filtered postcgp gqfiltered 5 . 74721255 5257.3 CTG C PASS 0/1 11 FRAME_SHIFT HIGH None None None None None None None

COPS8

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 23 recalibrated filtered postcgp gqfiltered 2 . 237994668 73655.2 C T PASS 1/1 39 STOP_GAINED HIGH NONSENSE None None None None None None None

CPEB2

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 23 recalibrated filtered postcgp gqfiltered 4 . 15004479 277.41 T TGA PASS 0/1 6 FRAME_SHIFT HIGH None None None None None None None

CPXM1

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 23 recalibrated filtered postcgp gqfiltered 20 . 2774932 37.58 G GC PASS 0/1 6 FRAME_SHIFT HIGH None None None None None None None

CRIM1

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 23 recalibrated filtered postcgp gqfiltered 2 . 36774258 735.57 C CT PASS 0/1 23 FRAME_SHIFT HIGH None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 2 . 36774243 680.29 CT... C PASS 0/1 22 FRAME_SHIFT HIGH None None None None None None None

CTC1

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 23 recalibrated filtered postcgp gqfiltered 17 . 8141710 11618.93 CT C,* PASS 0/1 9 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None None None None None None None

CTD-3193O13.9

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 23 recalibrated filtered postcgp gqfiltered 19 . 7935167 196.86 CTT CT... PASS 0/1 4 FRAME_SHIFT HIGH None None None None None None None

CWH43

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 23 recalibrated filtered postcgp gqfiltered 4 . 48988459 31396.16 CTT CT... PASS 1/1 23 FRAME_SHIFT HIGH None None None None None None None

CYBA

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 23 recalibrated filtered postcgp gqfiltered 16 . 88713544 78400.1 C CCT PASS 0/1 24 FRAME_SHIFT HIGH None None None None None None None

CYP2W1

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 23 recalibrated filtered postcgp gqfiltered 7 . 1022891 4372.82 G A PASS 1/1 108 STOP_GAINED HIGH NONSENSE None None None None None None None
View 23 recalibrated filtered postcgp gqfiltered 7 . 1028439 173.1 C CG PASS 0/1 9 FRAME_SHIFT HIGH None None None None None None None

DAB2

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 23 recalibrated filtered postcgp gqfiltered 5 . 39389959 50808.89 C A PASS 1/1 47 STOP_GAINED HIGH NONSENSE None None None None None None None

DARS2

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 23 recalibrated filtered postcgp gqfiltered 1 . 173826665 9769.41 CT CT... PASS 0/1 5 FRAME_SHIFT HIGH None None None None None None None