+ Filter Options

SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
 GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
 EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

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

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP 		READ DEPTH:

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

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES 		DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP 		ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE 		POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE 		MCAP

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

+ Genes 460

Genes:
AARS, AATF, ABCA7, ABCA9, ABCC3, ACAN, ACSM3, ACSM5, ADAMTS10, ADCY5, AHCTF1, ALDOA, ALK, ALOX12, AMY2A, ANAPC1, ANKEF1, ANKRD10, ANKRD13D, ANKRD31, AOX1, APCDD1, ARAP2, ARHGEF39, ARHGEF5, ART1, ASH1L, ASXL2, ASZ1, ATG2A, ATP10B, ATP12A, ATP2A3, ATXN7L1, AVPR1B, AZI1, BACE1, BACH1, BASP1, BOD1L1, BRS3, BTBD16, BTK, C10orf129, C10orf62, C12orf50, C14orf80, C15orf39, C17orf70, C21orf33, C2orf54, C4BPA, C5orf30, C6orf211, C7orf31, C9orf47, CACNA2D4, CALD1, CAMTA1, CAPN5, CATSPER2, CCDC141, CCDC180, CCDC182, CCDC27, CCDC57, CCDC73, CCDC80, CCDC88B, CD34, CD5, CD97, CDH11, CDH3, CEACAM16, CEACAM6, CELA2A, CELSR2, CEP120, CEP72, CEP89, CES5A, CFP, CGN, CHD1, CHGA, CHL1, CIC, CLDN1, CLEC18C, CMKLR1, CNBP, CNGA3, CNTROB, COL15A1, COL6A5, COLGALT1, COPB1, CORO2B, COX6B2, CROT, CRYBG3, CSNK1A1L, CUL7, CYFIP1, CYP2F1, CYYR1, DBF4B, DDX10, DEFB128, DENND5B, DHODH, DHRS2, DIO1, DIS3, DNAAF1, DNAH11, DNAH6, DNAH8, DNAJB7, DNAJC13, DNHD1, DNTT, DOCK8, DRD4, DRP2, DSP, DSPP, DST, DUX4L4, DYNC2H1, DZIP1, EHMT1, ENG, EPN1, ESPNL, ETHE1, EVC2, EXOSC5, EYS, F11, FAM161B, FAM187A, FBXO33, FCGBP, FCRL5, FGD5, FMN1, FNDC9, FRAS1, FRYL, FRZB, GCC2, GDF6, GDNF, GEMIN4, GLYCTK, GOLGA2, GOLGA6L2, GPATCH2, GPR56, GPR64, GPR84, GPR98, GPRIN2, GTDC1, GTF3C3, HAUS6, HCST, HERPUD2, HEXA, HLA-A, HLA-DRB1, HLA-DRB5, HLX, HOMEZ, HP1BP3, HPS5, HRNR, HSD17B1, IGF2BP1, IGFBP7, IGHD, IGLV2-14, IGSF1, IL17RC, INO80D, INTS10, INVS, IRF2, ITGA10, ITGA3, ITGAL, ITGBL1, JAG2, KCNAB2, KCTD18, KDM4E, KDR, KIAA1033, KIAA1407, KIF1C, KIF23, KIF5C, KIFC3, KLHL1, KLHL10, KLK3, KRT18, KRTAP10-6, KRTAP4-3, KRTAP5-1, KRTAP5-10, KY, LAMC2, LGR4, LILRB5, LNX1, LOX, LOXHD1, LRBA, LRP1B, LRP2, LRRC36, LRRC37B, LRRC49, LTBP1, LUZP1, MAGEA1, MAP4, MAP4K3, MCC, MCF2L, MCM9, METTL17, MIB2, MINK1, MLK4, MMRN2, MOGAT2, MPDZ, MRGPRG, MRGPRX1, MRPL19, MRPL37, MS4A8, MSH6, MT1H, MUC16, MUC19, MUC21, MUC3A, MX2, MXRA5, MYO18A, NAT8, NCOA4, NELFB, NEURL4, NFE2L1, NHLRC3, NKX1-1, NLRP12, NOD2, NOG, NOMO2, NOP58, NOTCH2NL, NPHS1, NPR1, NPY4R, NPY5R, NRXN2, NTRK3, NUTM2G, OLFML3, OR1A1, OR4C11, OR4C46, OR4S2, OR51L1, OR5D13, OR8S1, OTOF, OVCH1, P2RY4, PABPC3, PAPLN, PARD3, PARPBP, PCDHB11, PCDHB8, PDE1C, PDE4DIP, PDE9A, PDGFRB, PDS5B, PER3, PHF2, PICALM, PIEZO1, PIEZO2, PIK3R1, PITRM1, PKD1, PLCB2, PLCG2, PLXNC1, PON2, PPFIBP2, PPM1M, PPP2R1B, PRKDC, PROB1, PROZ, PRPS1L1, PRR23D1, PRRC2C, PRSS16, PSD, PTGIS, PTK7, PTPRB, PTX3, PUSL1, PYGO2, RAB33B, RALGAPA2, RBL2, RBM11, RBM45, RFX4, RHBDL2, RHBG, RILPL1, RIMS2, RNASE4, RNASEH2B, RNF180, RNF19B, RRBP1, RTTN, SBK1, SCN5A, SCUBE1, SDK2, SEC16A, SEC31A, SEMA4F, SEP15, SEZ6L, SGK223, SI, SIGLEC14, SIPA1L1, SIPA1L2, SKI, SLC16A14, SLC1A2, SLC1A7, SLC22A15, SLC25A47, SLC38A4, SLC46A2, SMAD7, SMCR8, SNAPC1, SNAPC4, SOGA3, SORL1, SOX4, SP110, SPATS2L, SPEG, SPHKAP, SPTB, SRCIN1, SREBF1, STOX1, STRA13, STRBP, SUCLG2, SUSD5, SVIL, TAF1B, TANGO2, TAOK2, TBC1D16, TCIRG1, TDO2, TDRD12, TFAP2E, TFAP4, THAP8, THSD1, THSD7B, TIMM23, TLK2, TLN2, TMEM114, TMEM132C, TMEM184A, TMEM53, TMEM55B, TMEM63C, TMEM95, TNRC18, TPD52, TPPP, TPRA1, TPSAB1, TPTE, TPTE2, TRIM37, TRIM61, TRMT44, TRPM2, TSPEAR, TSSC4, TTC7A, TTF2, TTN, UCK2, UGT1A3, UGT2B17, UNC5CL, UQCC1, USP28, UTRN, VGLL3, VPS13C, VPS8, VPS9D1, WHAMM, XAF1, XIRP1, XYLT2, YIF1B, ZAN, ZDBF2, ZFP14, ZFYVE9, ZHX3, ZNF100, ZNF217, ZNF334, ZNF335, ZNF350, ZNF362, ZNF366, ZNF418, ZNF444, ZNF521, ZNF554, ZNF765, ZNF788, ZNF804B, ZNF844, ZXDA, ZXDB,

+ Genes associated with diseases 116

Genes at Omim

AARS, ABCA7, ACAN, ACSM3, ADAMTS10, ADCY5, ALDOA, ALK, APCDD1, ASH1L, ASXL2, BTK, CACNA2D4, CAMTA1, CAPN5, CDH11, CDH3, CEACAM16, CEP120, CHD1, CIC, CLDN1, CNBP, CNGA3, COLGALT1, CUL7, DHODH, DNAAF1, DNAH11, DOCK8, DRD4, DSP, DSPP, DST, DYNC2H1, EHMT1, ENG, ETHE1, EVC2, EYS, F11, FRAS1, FRZB, GDF6, GDNF, GEMIN4, GLYCTK, HEXA, HLA-A, HLA-DRB1, HPS5, IGFBP7, IGSF1, IL17RC, INVS, ITGA3, KDR, KIF1C, KIF5C, KLHL10, KRT18, KY, LAMC2, LGR4, LOX, LOXHD1, LRBA, LRP2, MCC, MCM9, MPDZ, MSH6, NLRP12, NOD2, NOG, NPHS1, OTOF, PDE1C, PDGFRB, PER3, PICALM, PIEZO1, PIEZO2, PIK3R1, PKD1, PLCB2, PLCG2, PON2, PPP2R1B, PRKDC, PROZ, PTGIS, RAB33B, RNASEH2B, RTTN, SCN5A, SI, SKI, SLC1A2, SMAD7, SP110, SPEG, SPTB, STOX1, TANGO2, TCIRG1, TDO2, TLK2, TRIM37, TSPEAR, TTC7A, TTN, UGT2B17, VPS13C, XYLT2, ZNF335,
AARS Charcot-Marie-Tooth disease, axonal, type 2N, 613287 (3)
Epileptic encephalopathy, early infantile, 29, 616339 (3)
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ACAN ?Spondyloepiphyseal dysplasia, Kimberley type, 608361 (3)
Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, 165800 (3)
Spondyloepimetaphyseal dysplasia, aggrecan type, 612813 (3)
ACSM3 {?Hypertension, essential} (1)
ADAMTS10 Weill-Marchesani syndrome 1, recessive, 277600 (3)
ADCY5 Dyskinesia, familial, with facial myokymia, 606703 (3)
ALDOA Glycogen storage disease XII, 611881 (3)
ALK {Neuroblastoma, susceptibility to, 3}, 613014 (3)
APCDD1 Hypotrichosis 1, 605389 (3)
ASH1L Mental retardation, autosomal dominant 52, 617796 (3)
ASXL2 Shashi-Pena syndrome, 617190 (3)
BTK Agammaglobulinemia, X-linked 1, 300755 (3)
Isolated growth hormone deficiency, type III, with agammaglobulinemia, 307200 (3)
CACNA2D4 Retinal cone dystrophy 4, 610478 (3)
CAMTA1 Cerebellar ataxia, nonprogressive, with mental retardation, 614756 (3)
CAPN5 Vitreoretinopathy, neovascular inflammatory, 193235 (3)
CDH11 Elsahy-Waters syndrome, 211380 (3)
CDH3 Hypotrichosis, congenital, with juvenile macular dystrophy, 601553 (3)
Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)
CEACAM16 Deafness, autosomal dominant 4B, 614614 (3)
CEP120 Joubert syndrome 31, 617761 (3)
Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3)
CHD1 Pilarowski-Bjornsson syndrome, 617682 (3)
CIC Mental retardation, autosomal dominant 45, 617600 (3)
CLDN1 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis, 607626 (3)
CNBP Myotonic dystrophy 2, 602668 (3)
CNGA3 Achromatopsia 2, 216900 (3)
COLGALT1 Brain small vessel disease 3, 618360 (3)
CUL7 3-M syndrome 1, 273750 (3)
DHODH Miller syndrome, 263750 (3)
DNAAF1 Ciliary dyskinesia, primary, 13, 613193 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
DRD4 Autonomic nervous system dysfunction (3)
[Novelty seeking personality], 601696 (1)
{Attention deficit-hyperactivity disorder}, 143465 (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)
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)
DST Epidermolysis bullosa simplex, autosomal recessive 2, 615425 (3)
?Neuropathy, hereditary sensory and autonomic, type VI, 614653 (3)
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
EHMT1 Kleefstra syndrome 1, 610253 (3)
ENG Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3)
ETHE1 Ethylmalonic encephalopathy, 602473 (3)
EVC2 Ellis-van Creveld syndrome, 225500 (3)
Weyers acrofacial dysostosis, 193530 (3)
EYS Retinitis pigmentosa 25, 602772 (3)
F11 Factor XI deficiency, autosomal dominant, 612416 (3)
Factor XI deficiency, autosomal recessive, 612416 (3)
FRAS1 Fraser syndrome 1, 219000 (3)
FRZB {Osteoarthritis susceptibility 1}, 165720 (3)
GDF6 Klippel-Feil syndrome 1, autosomal dominant, 118100 (3)
Leber congenital amaurosis 17, 615360 (3)
Microphthalmia, isolated 4, 613094 (3)
Microphthalmia with coloboma 6, digenic, 613703 (3)
Multiple synostoses syndrome 4, 617898 (3)
GDNF {Hirschsprung disease, susceptibility to, 3}, 613711 (3)
Central hypoventilation syndrome, 209880 (3)
{Pheochromocytoma, modifier of}, 171300 (3)
GEMIN4 Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, 617913 (3)
GLYCTK D-glyceric aciduria, 220120 (3)
HEXA GM2-gangliosidosis, several forms, 272800 (3)
Tay-Sachs disease, 272800 (3)
[Hex A pseudodeficiency], 272800 (3)
HLA-A {Hypersensitivity syndrome, carbamazepine-induced, susceptibility to}, 608579 (3)
HLA-DRB1 {Multiple sclerosis, susceptibility to, 1}, 126200 (3)
{Sarcoidosis, susceptibility to, 1}, 181000 (3)
HPS5 Hermansky-Pudlak syndrome 5, 614074 (3)
IGFBP7 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3)
IGSF1 Hypothyroidism, central, and testicular enlargement, 300888 (3)
IL17RC Candidiasis, familial, 9, 616445 (3)
INVS Nephronophthisis 2, infantile, 602088 (3)
ITGA3 Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, 614748 (3)
KDR {Hemangioma, capillary infantile, susceptibility to}, 602089 (3)
Hemangioma, capillary infantile, somatic, 602089 (3)
KIF1C Spastic ataxia 2, autosomal recessive, 611302 (3)
KIF5C Cortical dysplasia, complex, with other brain malformations 2, 615282 (3)
KLHL10 Spermatogenic failure 11, 615081 (3)
KRT18 Cirrhosis, cryptogenic, 215600 (3)
{Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)
KY Myopathy, myofibrillar, 7, 617114 (3)
LAMC2 Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
LGR4 {Bone mineral density, low, susceptibility to}, 615311 (3)
LOX Aortic aneurysm, familial thoracic 10, 617168 (3)
LOXHD1 Deafness, autosomal recessive 77, 613079 (3)
LRBA Immunodeficiency, common variable, 8, with autoimmunity, 614700 (3)
LRP2 Donnai-Barrow syndrome, 222448 (3)
MCC Colorectal cancer, somatic, 114500 (3)
MCM9 Ovarian dysgenesis 4, 616185 (3)
MPDZ Hydrocephalus, congenital, 2, with or without brain or eye anomalies, 615219 (3)
MSH6 Colorectal cancer, hereditary nonpolyposis, type 5, 614350 (3)
Mismatch repair cancer syndrome, 276300 (3)
{Endometrial cancer, familial}, 608089 (3)
NLRP12 Familial cold autoinflammatory syndrome 2, 611762 (3)
NOD2 Blau syndrome, 186580 (3)
{Inflammatory bowel disease 1, Crohn disease}, 266600 (3)
{Psoriatic arthritis, susceptibility to}, 607507 (2)
{Yao syndrome}, 617321 (3)
NOG Brachydactyly, type B2, 611377 (3)
Multiple synostoses syndrome 1, 186500 (3)
Stapes ankylosis with broad thumbs and toes, 184460 (3)
Symphalangism, proximal, 1A, 185800 (3)
Tarsal-carpal coalition syndrome, 186570 (3)
NPHS1 Nephrotic syndrome, type 1, 256300 (3)
OTOF Auditory neuropathy, autosomal recessive, 1, 601071 (3)
Deafness, autosomal recessive 9, 601071 (3)
PDE1C ?Deafness, autosomal dominant 74, 618140 (3)
PDGFRB Basal ganglia calcification, idiopathic, 4, 615007 (3)
Kosaki overgrowth syndrome, 616592 (3)
Myeloproliferative disorder with eosinophilia, 131440 (4)
Myofibromatosis, infantile, 1, 228550 (3)
Premature aging syndrome, Penttinen type, 601812 (3)
PER3 ?Advanced sleep phase syndrome, familial, 3, 616882 (3)
PICALM Leukemia, acute myeloid, somatic, 601626 (3)
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, 194380 (3)
Lymphatic malformation 6, 616843 (3)
PIEZO2 Arthrogryposis, distal, type 3, 114300 (3)
Arthrogryposis, distal, type 5, 108145 (3)
Arthrogryposis, distal, with impaired proprioception and touch, 617146 (3)
?Marden-Walker syndrome, 248700 (3)
PIK3R1 Immunodeficiency 36, 616005 (3)
?Agammaglobulinemia 7, autosomal recessive, 615214 (3)
SHORT syndrome, 269880 (3)
PKD1 Polycystic kidney disease 1, 173900 (3)
PLCB2 Platelet PLC beta-2 deficiency (1)
PLCG2 Familial cold autoinflammatory syndrome 3, 614468 (3)
Autoinflammation, antibody deficiency, and immune dysregulation syndrome, 614878 (3)
PON2 {Coronary artery disease, susceptibility to} (3)
PPP2R1B Lung cancer, somatic, 211980 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
PROZ [Protein Z deficiency], 614024 (3)
PTGIS Hypertension, essential, 145500 (3)
RAB33B Smith-McCort dysplasia 2, 615222 (3)
RNASEH2B Aicardi-Goutieres syndrome 2, 610181 (3)
RTTN Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
SCN5A Atrial fibrillation, familial, 10, 614022 (3)
Brugada syndrome 1, 601144 (3)
Cardiomyopathy, dilated, 1E, 601154 (3)
Heart block, nonprogressive, 113900 (3)
Heart block, progressive, type IA, 113900 (3)
Long QT syndrome-3, 603830 (3)
{Sudden infant death syndrome, susceptibility to}, 272120 (3)
Sick sinus syndrome 1, 608567 (3)
Ventricular fibrillation, familial, 1, 603829 (3)
SI Sucrase-isomaltase deficiency, congenital, 222900 (3)
SKI Shprintzen-Goldberg syndrome, 182212 (3)
SLC1A2 Epileptic encephalopathy, early infantile, 41, 617105 (3)
SMAD7 {Colorectal cancer, susceptibility to, 3}, 612229 (3)
SP110 Hepatic venoocclusive disease with immunodeficiency, 235550 (3)
{Mycobacterium tuberculosis, susceptibility to}, 607948 (3)
SPEG Centronuclear myopathy 5, 615959 (3)
SPTB Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3)
Elliptocytosis-3, 617948 (3)
Spherocytosis, type 2, 616649 (3)
STOX1 Preeclampsia/eclampsia 4, 609404 (3)
TANGO2 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, 616878 (3)
TCIRG1 Osteopetrosis, autosomal recessive 1, 259700 (3)
TDO2 [?Hypertryptophanemia], 600627 (3)
TLK2 Mental retardation, autosomal dominant 57, 618050 (3)
TRIM37 Mulibrey nanism, 253250 (3)
TSPEAR Ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis, 618180 (3)
?Deafness, autosomal recessive 98, 614861 (3)
TTC7A Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)
TTN Cardiomyopathy, dilated, 1G, 604145 (3)
Cardiomyopathy, familial hypertrophic, 9, 613765 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 10, 608807 (3)
Myopathy, proximal, with early respiratory muscle involvement, 603689 (3)
Salih myopathy, 611705 (3)
Tibial muscular dystrophy, tardive, 600334 (3)
UGT2B17 {Bone mineral density QTL 12, osteoporosis}, 612560 (3)
VPS13C Parkinson disease 23, autosomal recessive, early onset, 616840 (3)
XYLT2 {Pseudoxanthoma elasticum, modifier of severity of}, 264800 (3)
Spondyloocular syndrome, 605822 (3)
ZNF335 Microcephaly 10, primary, autosomal recessive, 615095 (3)

Genes at Clinical Genomics Database

AARS, ACAN, ADAMTS10, ADCY5, ALDOA, ALK, APCDD1, BTK, CACNA2D4, CAMTA1, CAPN5, CDH3, CEACAM16, CEP120, CFP, CLDN1, CNBP, CNGA3, CUL7, DHODH, DNAAF1, DNAH11, DNAJC13, DOCK8, DSP, DSPP, DST, DYNC2H1, EHMT1, ENG, ETHE1, EVC2, EYS, F11, FRAS1, GDF6, GDNF, GLYCTK, HEXA, HLA-A, HPS5, IGFBP7, IGSF1, IL17RC, INVS, ITGA3, KIAA1033, KIF1C, KIF5C, KLHL10, LAMC2, LOXHD1, LRBA, LRP2, MCM9, MPDZ, MSH6, NLRP12, NOD2, NOG, NPHS1, OTOF, PDGFRB, PER3, PIEZO1, PIEZO2, PIK3R1, PKD1, PLCG2, PRKDC, PROZ, RAB33B, RNASEH2B, RTTN, SCN5A, SI, SKI, SP110, SPEG, SPTB, TANGO2, TCIRG1, TRIM37, TSPEAR, TTC7A, TTN, VPS13C, ZNF335,
AARS Charcot-Marie-Tooth disease, axonal, type 2N
Epileptic encephalopathy, early infantile, 29
ACAN Spondyloepimetaphyseal dysplasia, aggrecan type
Spondyloepiphyseal dysplasia, Kimberley type
Osteochondritis dissecans, short stature, and early-onset osteoarthritis
ADAMTS10 Weill-Marchesani syndrome 1
ADCY5 Dyskinesia, familial, with facial myokymia
ALDOA Glycogen storage disease XII
ALK Neuroblastoma, susceptibility to, 3
APCDD1 Hypotrichosis 1
BTK Agammaglobulinemia, X-linked
Agammaglobulinemia and isolated hormone deficiency
Hypogammaglobulinemia, X-linked
CACNA2D4 Retinal cone dystrophy 4
CAMTA1 Cerebellar ataxia, nonprogressive, with mental retardation
CAPN5 Vitreoretinopathy, neovascular inflammatory
CDH3 Hypotrichosis, congenital, with juvenile macular dystrophy
Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome
CEACAM16 Deafness, autosomal dominant 4B
CEP120 Short-rib thoracic dysplasia 13 with or without polydactyly
CFP Properdin deficiency, X-linked
CLDN1 Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
CNBP Myotonic dystrophy 2
CNGA3 Achromatopsia 2
Leber congenital amaurosis
CUL7 Three M syndrome 1
Yakut short stature syndrome
DHODH Postaxial acrofacial dysostosis (Miller syndrome)
DNAAF1 Ciliary dyskinesia, primary, 13
DNAH11 Ciliary dyskinesia, primary, 7
DNAJC13 Parkinson disease 21
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
DSP Arrhythmogenic right ventricular dysplasia, familial 8
Cardiomyopathy, dilated, with wooly hair and keratoderma
Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis
DSPP Deafness, autosomal dominant, 39, with dentinogenesis imperfecta 1
Dentinogenesis imperfecta, Shields type II
Dentinogenesis imperfecta, Shields type III
Dentin dysplasia, type II
DST Neuropathy, hereditary sensory and autonomic, type VI
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly
EHMT1 Kleefstra syndrome
ENG Hereditary hemorrhagic telangiectasia, type 1
Juvenile polyposis syndrome
ETHE1 Ethylmalonic encephalopathy
EVC2 Ellis-van Creveld syndrome
Weyers acrodental dysostosis
EYS Retitinis pigmentosa 25
F11 Factor XI deficiency
FRAS1 Fraser syndrome
GDF6 Microphthalmia, isolated 4
Microphthalmia, isolated, with coloboma 6
Coloboma, ocular
Klippel-Feil syndrome 1, autosomal dominant
Leber congenital amaurosis 17
GDNF Central hypoventilation syndrome
Hirschsprung disease, susceptibility to, 3
GLYCTK D-glyceric aciduria
HEXA Tay-Sachs disease
GM2-gangliosidosis
Hexosaminidase A deficiency
HLA-A Drug-induced toxicity, susceptibility to
HPS5 Hermansky-Pudlak syndrome 5
IGFBP7 Retinal arterial macroaneurysm with supravalvular pulmonic stenosis
IGSF1 Central hypothyroidism and testicular enlargement
IL17RC Candiasis, familial, 9
INVS Nephronophthisis 2
ITGA3 Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
KIAA1033 Mental retardation, autosomal recessive 43
KIF1C Spastic ataxia 2, autosomal recessive
KIF5C Cortical dysplasia, complex, with other brain malformations 2
KLHL10 Spermatogenic failure 11
LAMC2 Epidermolysis bullosa, junctional, Herlitz type
Epidermolysis bullosa, junctional, non-Herlitz type
LOXHD1 Deafness, autosomal recessive 77
LRBA Common variable immunodeficiency 8, with autoimmunity
LRP2 Donnai-Barrow syndrome
Faciooculoacousticorenal syndrome
MCM9 Ovarian dysgenesis 4
MPDZ Hydrocephalus, nonsyndromic, autosomal recessive 2
MSH6 Colorectal cancer, hereditary nonpolyposis type 5
Mismatch repair cancer syndrome
Endometrial cancer
NLRP12 Familial cold autoinflammatory syndrome 2
NOD2 Blau syndrome
Sarcoidosis, early-onset
NOG Brachydactyly, type B2
Tarsal-carpal coalition syndrome
Multiple synostosis syndrome 1
Symphalangism, proximal
Stapes ankylosis with broad thumb and toes (Teunissen-Cremers syndrome)
NPHS1 Nephrotic syndrome, type 1
OTOF Deafness, autosomal recessive 9
Neuropathy, autosomal recessive, 1
PDGFRB Basal ganglia calcification, idiopathic, 4
Kosaki overgrowth syndrome
Myofibromatosis, infantile 1
Premature aging syndrome, Penttinen type
PER3 Advanced sleep phase syndrome, familial, 3
PIEZO1 Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
PIEZO2 Distal arthrogryposis type 3
Distal arthrogryposis type 5
Marden-Walker syndrome
PIK3R1 Agammaglobulinemia 7, autosomal recessive
PKD1 Polycystic kidney disease, adult type I
PLCG2 Familial cold autoinflammatory syndrome 3 (PLAID)
Autoinflammation, antibody deficiency, and immune dysregulation syndrome (APLAID)
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
PROZ Protein Z deficiency
RAB33B Dyggve-Melchior-Clausen syndrome
Smith-McCort dysplasia 2
RNASEH2B Aicardi-Goutieres syndrome 2
RTTN Microcephaly, short stature, and polymicrogyria with or without seizures
SCN5A Atrial fibrillation, familial 10
Long QT syndrome 3
Idiopathic ventricular fibrillation
Heart block, progressive, type IA
Heart block, nonprogressive
Sick sinus syndrome 1, autosomal recessive
Cardiomyopathy, dilated, 1E
Brugada syndrome 1
Ventricular fibrillation, familial 1
SI Sucrase-isomaltase deficiency, congenital
SKI Shprintzen-Goldberg syndrome
SP110 Hepatic venoocclusive disease with immunodeficiency
SPEG Centronuclear myopathy 5
SPTB Spherocytosis, type 2
Ellipsocytosis, type 3
Anemia, neonatal hemolytic
TANGO2 Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN)
TCIRG1 Osteopetrosis, autosomal recessive 1
TRIM37 Mulibrey nanism
TSPEAR Deafness, autosomal recessive 98
TTC7A Gastrointestinal defects and immunodeficiency syndrome
TTN Cardiomyopathy, familial hypertrophic 9
Cardiomyopathy, dilated, 1G
VPS13C Parkinson disease 23, autosomal recessive, early onset
ZNF335 Microcephaly 10, primary, autosomal recessive

Genes at HGMD

Summary

Number of Variants: 551
Number of Genes: 460

Export to: CSV

AARS
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 ex_013_mod 16 rs148355156
dbSNP Clinvar 		70295047 21235.15 G A PASS 0/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.00339 0.00340 0.00631 0.24 0.02 None None None None None None AARS|0.341353977|24.74%

AATF
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 ex_013_mod 17 rs140132823
dbSNP Clinvar 		35310234 5121.5 G A PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00085 0.55 0.00 None None None None None None AATF|0.980408321|1.45%

ABCA7
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 ex_013_mod 19 rs546030917
dbSNP Clinvar 		1055151 733.51 T C PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00 0.99 None None None None None None ABCA7|0.007770288|82.8%
View ex_013_mod 19 rs117187003
dbSNP Clinvar 		1057343 4412.07 G A PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.00180 0.00180 0.00269 0.02 0.93 None None None None None None ABCA7|0.007770288|82.8%

ABCA9
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 ex_013_mod 17 rs376418483
dbSNP Clinvar 		67016544 2616.29 T C PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.00008 0.09 0.16 None None None None None None ABCA9|0.017284198|75.69%

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 ex_013_mod 17 rs34502058
dbSNP Clinvar 		48753045 15428.19 G A PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.00200 0.00200 0.00424 0.37 0.48 None None None None None None ABCC3|0.044769991|64.26%

ACAN
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 ex_013_mod 15 rs12899191
dbSNP Clinvar 		89400023 1097472.52 A G PASS 1/1 197 NON_SYNONYMOUS_CODING MODERATE None 0.63 0.34 None None None None None None ACAN|0.017538305|75.58%

ACSM3
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 ex_013_mod 16 rs750153921
dbSNP Clinvar 		20796308 2867.51 A G PASS 0/1 218 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.03 0.07 None None None None None None ACSM3|0.167284946|40.62%,ERI2|0.119712352|47.5%

ACSM5
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 ex_013_mod 16 rs148243446
dbSNP Clinvar 		20442346 19101.78 A C PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.00319 0.00320 0.00554 0.08 0.09 None None None None None None ACSM5|0.017561285|75.57%

ADAMTS10
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 ex_013_mod 19 . 8650544 434.51 G T PASS 0/1 47 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 1.00 0.00 None None None None None None ADAMTS10|0.099701531|51.23%

ADCY5
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 ex_013_mod 3 rs758708718
dbSNP Clinvar 		123021985 504.51 C T PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.07 0.23 None None None None None None ADCY5|0.611756901|11.41%

AHCTF1
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 ex_013_mod 1 rs778328927
dbSNP Clinvar 		247051760 89.53 C T PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.83 0.00 None None None None None None AHCTF1|0.093190661|52.56%

ALDOA
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 ex_013_mod 16 rs567803172
dbSNP Clinvar 		30078321 1440.51 C G PASS 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.43 0.00 None None None None None None ALDOA|0.615382702|11.28%

ALK
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 ex_013_mod 2 rs150966028
dbSNP Clinvar 		29917736 2410.32 C T PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00046 1.00 0.00 None None None None None None ALK|0.859785808|4.47%

ALOX12
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 ex_013_mod 17 rs114985038
dbSNP Clinvar 		6901890 5460.29 G C PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.00579 0.00579 0.00446 0.02 0.72 None None None None None None ALOX12|0.072773622|56.83%

AMY2A
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 ex_013_mod 1 . 104162303 444.08 C T PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.85 None None None None None None AMY2A|0.010704532|80.36%

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 ex_013_mod 2 rs773207491
dbSNP Clinvar 		112605381 548.08 T G PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.14 0.19 None None None None None None ANAPC1|0.14646446|43.53%

ANKEF1
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 ex_013_mod 20 rs148551222
dbSNP Clinvar 		10030617 1745.51 G A PASS 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00023 0.01 0.59 None None None None None None ANKEF1|0.06517726|58.59%

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 ex_013_mod 13 rs758829775
dbSNP Clinvar 		111567153 203.53 C G PASS 0/1 13 NON_SYNONYMOUS_CODING MODERATE None 0.03 0.69 None None None None None None ANKRD10|0.068914664|57.75%

ANKRD13D
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 ex_013_mod 11 . 67057913 143.52 G A PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.09 None None None None None None ANKRD13D|0.070594446|57.34%

ANKRD31
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 ex_013_mod 5 rs569073393
dbSNP Clinvar 		74443092 1800.51 T C PASS 0/1 150 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.30 0.01 None None None None None None ANKRD31|0.011398689|79.69%

AOX1
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 ex_013_mod 2 rs112951726
dbSNP Clinvar 		201503018 5808.1 A G PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.00519 0.00519 0.00323 0.21 0.16 None None None None None None AOX1|0.048138399|63.27%

APCDD1
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 ex_013_mod 18 rs200082076
dbSNP Clinvar 		10487822 4008.29 C A PASS 0/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.00054 0.00 0.99 None None None None None None APCDD1|0.086159804|53.92%

ARAP2
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 ex_013_mod 4 rs35822395
dbSNP Clinvar 		36230843 62346.35 G A PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.00559 0.00559 0.01100 0.44 0.00 None None None None None None ARAP2|0.117132933|47.92%

ARHGEF39
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 ex_013_mod 9 rs142735282
dbSNP Clinvar 		35663069 6681.07 C T PASS 0/1 40 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00031 0.05 0.64 None None None None None None ARHGEF39|0.293829153|28.14%

ARHGEF5
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 ex_013_mod 7 rs200961550
dbSNP Clinvar 		144071928 390.31 G A PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None ARHGEF5|0.018074391|75.24%

ART1
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 ex_013_mod 11 rs148703944
dbSNP Clinvar 		3681156 18796.1 G A PASS 0/1 140 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00177 0.01 0.98 None None None None None None ART1|0.034283221|67.7%

ASH1L
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 ex_013_mod 1 rs41264231
dbSNP Clinvar 		155317682 21837.52 C T PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.00169 0.00 1.00 None None None None None None ASH1L|0.352129967|23.94%

ASXL2
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 ex_013_mod 2 rs200858310
dbSNP Clinvar 		25972785 9192.29 T C PASS 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00185 0.07 0.20 None None None None None None ASXL2|0.14431819|43.83%

ASZ1
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 ex_013_mod 7 rs140466585
dbSNP Clinvar 		117062332 6793.3 C T PASS 0/1 187 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00062 0.17 0.11 None None None None None None ASZ1|0.141301236|44.23%

ATG2A
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 ex_013_mod 11 rs200023496
dbSNP Clinvar 		64668492 1181.29 G A PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00054 0.02 0.66 None None None None None None ATG2A|0.043961932|64.54%

ATP10B
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 ex_013_mod 5 rs56340994
dbSNP Clinvar 		160059137 7741.1 A G PASS 0/1 45 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00599 0.00599 0.00855 0.03 0.90 None None None None None None ATP10B|0.07854889|55.53%

ATP12A
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 ex_013_mod 13 rs141275215
dbSNP Clinvar 		25264516 7340.56 C A PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 0.00138 0.11 0.79 None None None None None None ATP12A|0.195110246|37.26%

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 ex_013_mod 17 rs144535413
dbSNP Clinvar 		3844344 21428.71 C T PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 0.00339 0.32 0.59 None None None None None None ATP2A3|0.0615045|59.44%

ATXN7L1
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 ex_013_mod 7 rs184401179
dbSNP Clinvar 		105264695 6638.11 T C PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.00180 0.00180 0.00307 0.54 0.01 None None None None None None ATXN7L1|0.537691769|14.3%

AVPR1B
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 ex_013_mod 1 rs28632197
dbSNP Clinvar 		206230958 292493.83 G A PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.11861 0.11860 0.10495 0.27 0.00 None None None None None None AVPR1B|0.082209183|54.73%

AZI1
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 ex_013_mod 17 rs145189405
dbSNP Clinvar 		79172739 3175.19 G A PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.00200 0.00200 0.00217 0.12 0.00 None None None None None None CEP131|0.010879041|80.18%

BACE1
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 ex_013_mod 11 rs143544031
dbSNP Clinvar 		117160380 5142.29 T G PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00092 0.52 0.01 None None None None None None BACE1|0.90818677|3.28%

BACH1
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 ex_013_mod 21 rs151321858
dbSNP Clinvar 		30699637 14138.11 A T PASS 0/1 158 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.00092 0.00 0.89 None None None None None None BACH1|0.113830282|48.51%

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 ex_013_mod 5 rs146351088
dbSNP Clinvar 		17275966 15446.77 C T PASS 0/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.00233 0.53 0.38 None None None None None None BASP1|0.077793054|55.71%

BOD1L1
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 ex_013_mod 4 rs138568321
dbSNP Clinvar 		13629046 932.82 T C PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00177 0.03 0.14 None None None None None None BOD1L1|0.019781318|74.3%
View ex_013_mod 4 rs73231582
dbSNP Clinvar 		13605304 139904.4 G A PASS 0/1 171 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.00169 0.00 1.00 None None None None None None BOD1L1|0.019781318|74.3%

BRS3
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 ex_013_mod X rs141447542
dbSNP Clinvar 		135574388 3896.52 C T PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.00066 0.18 0.28 None None None None None None BRS3|0.215732205|34.92%

BTBD16
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 ex_013_mod 10 rs113568037
dbSNP Clinvar 		124090711 5156.07 C T PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.00085 0.08 0.01 None None None None None None BTBD16|0.010433592|80.54%

BTK
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 ex_013_mod X rs782038889
dbSNP Clinvar 		100615739 1954.52 A G PASS 0/1 158 NON_SYNONYMOUS_CODING MODERATE None 0.44 0.01 None None None None None None BTK|0.867331978|4.3%

C10orf129
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 ex_013_mod 10 rs200758572
dbSNP Clinvar 		96967024 1064.51 C T PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00085 0.02 0.95 None None None None None None ACSM6|0.00147864|92.86%

C10orf62
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 ex_013_mod 10 rs145450971
dbSNP Clinvar 		99350210 9357.07 C T PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.00085 0.03 0.83 None None None None None None HOGA1|0.206118474|36.01%,PI4K2A|0.347953253|24.29%,C10orf62|0.004125691|86.83%

C12orf50
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 ex_013_mod 12 rs141441001
dbSNP Clinvar 		88376957 341.53 G A PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.00015 0.02 0.55 None None None None None None C12orf50|0.267155903|30.09%

C14orf80
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 ex_013_mod 14 rs138505168
dbSNP Clinvar 		105964144 10031.32 C G PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.00054 0.02 1.00 None None None None None None C14orf80|0.002989896|88.65%

C15orf39
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 ex_013_mod 15 rs149175372
dbSNP Clinvar 		75503399 46933.29 G A PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.00699 0.00699 0.00385 0.01 0.31 None None None None None None C15orf39|0.009123795|81.57%

C17orf70
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 ex_013_mod 17 rs189173983
dbSNP Clinvar 		79519275 1415.52 C G PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.00559 0.00559 0.00350 0.01 1.00 None None None None None None C17orf70|0.008276506|82.38%

C21orf33
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 ex_013_mod 21 rs968714
dbSNP Clinvar 		45553596 3177180.72 T C PASS 1/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.59185 0.59190 0.34155 0.83 0.00 None None None None None None C21orf33|0.016835395|76%

C2orf54
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 ex_013_mod 2 rs373154669
dbSNP Clinvar 		241826548 377.51 C T PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.00016 0.03 0.98 None None None None None None C2orf54|0.010178626|80.73%

C4BPA
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 ex_013_mod 1 rs140603272
dbSNP Clinvar 		207297622 5257.3 G A PASS 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00046 0.53 0.00 None None None None None None C4BPA|0.000996206|95.46%

C5orf30
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 ex_013_mod 5 rs144822898
dbSNP Clinvar 		102611934 1549.51 G A PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.00069 0.00 1.00 None None None None None None C5orf30|0.249037011|31.6%

C6orf211
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 ex_013_mod 6 rs778184135
dbSNP Clinvar 		151773685 744.51 C T PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.09 0.00 None None None None None None ARMT1|0.053639098|61.57%

C7orf31
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 ex_013_mod 7 rs149861210
dbSNP Clinvar 		25175943 1215.51 T G PASS 0/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.00023 0.24 0.00 None None None None None None C7orf31|0.027705707|70.55%

C9orf47
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 ex_013_mod 9 rs145434754
dbSNP Clinvar 		91605981 46953.6 C T PASS 0/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 0.00285 0.00 0.34 None None None None None None C9orf47|0.000303211|99.39%

CACNA2D4
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 ex_013_mod 12 rs55971855
dbSNP Clinvar 		1908849 35948.06 A G PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.00319 0.00320 0.00469 0.09 0.45 None None None None None None CACNA2D4|0.041118037|65.41%

CALD1
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 ex_013_mod 7 rs775972262
dbSNP Clinvar 		134643010 744.51 G A PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.48 0.45 None None None None None None CALD1|0.408108542|20.29%

CAMTA1
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 ex_013_mod 1 rs144242373
dbSNP Clinvar 		7724562 30500.08 C T PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.00108 0.02 0.11 None None None None None None CAMTA1|0.951338773|2.22%

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 ex_013_mod 11 rs80069522
dbSNP Clinvar 		76799001 6027.54 C T PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.00280 0.00280 0.14 0.00 None None None None None None CAPN5|0.074828783|56.33%

CATSPER2
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 ex_013_mod 15 rs11638719
dbSNP Clinvar 		43931906 1504.68 G C PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.00200 0.01 0.87 None None None None None None STRC|0.165616336|40.85%,CATSPER2|0.020822409|73.76%

CCDC141
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 ex_013_mod 2 . 179753324 454.51 C T PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.00 0.63 None None None None None None CCDC141|0.105861081|50.04%

CCDC180
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 ex_013_mod 9 rs143570099
dbSNP Clinvar 		100124555 48513.37 G C PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.00339 0.00340 0.00961 0.76 0.06 None None None None None None CCDC180|0.009048134|81.61%

CCDC182
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 ex_013_mod 17 rs199973441
dbSNP Clinvar 		55822444 7094.52 C G PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None None

CCDC27
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 ex_013_mod 1 rs144028564
dbSNP Clinvar 		3680345 41662.54 C T PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.00339 0.00340 0.00577 0.28 0.00 None None None None None None CCDC27|0.000839912|96.44%

CCDC57
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 ex_013_mod 17 . 80159430 531.51 G C PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 None None None None None None CCDC57|0.000772577|96.85%

CCDC73
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 ex_013_mod 11 rs186329131
dbSNP Clinvar 		32624385 6107.58 G A PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.00260 0.00260 0.00520 1.00 0.00 None None None None None None EIF3M|0.76741889|6.68%,CCDC73|0.059934453|59.87%

CCDC80
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 ex_013_mod 3 rs116307644
dbSNP Clinvar 		112357336 33797.05 G A PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.00300 0.00300 0.00684 0.69 0.00 None None None None None None CCDC80|0.243088353|32.17%

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 ex_013_mod 11 rs200365246
dbSNP Clinvar 		64119801 1798.58 G A PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00032 0.37 0.72 None None None None None None CCDC88B|0.013893169|77.95%

CD34
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 ex_013_mod 1 rs201672357
dbSNP Clinvar 		208072429 1047.51 C A PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.22 0.00 None None None None None None CD34|0.975287007|1.59%

CD5
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 ex_013_mod 11 rs772890572
dbSNP Clinvar 		60893300 1268.51 C G PASS 0/1 129 NON_SYNONYMOUS_CODING MODERATE None 0.01 0.76 None None None None None None CD5|0.018723395|74.85%

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 ex_013_mod 19 rs146888178
dbSNP Clinvar 		14517319 18654.71 C G PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.00120 0.00120 0.00247 0.02 0.99 None None None None None None ADGRE5|0.001053928|95.16%

CDH11
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 ex_013_mod 16 rs141063325
dbSNP Clinvar 		65005934 16701.71 G A PASS 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.00260 0.00260 0.00292 0.46 0.17 None None None None None None CDH11|0.883907438|3.88%

CDH3
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 ex_013_mod 16 rs151198926
dbSNP Clinvar 		68721525 33307.32 G A PASS 0/1 130 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00185 0.09 0.42 None None None None None None CDH3|0.072383373|56.91%

CEACAM16
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 ex_013_mod 19 rs183860695
dbSNP Clinvar 		45206933 13898.08 G A PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 0.00215 0.11 0.44 None None None None None None CEACAM16|0.066749187|58.2%

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 ex_013_mod 19 rs143159805
dbSNP Clinvar 		42265201 6429.52 G A PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.00080 0.00080 0.00062 0.20 0.97 None None None None None None CEACAM6|0.001820089|91.48%

CELA2A
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 ex_013_mod 1 rs2303193
dbSNP Clinvar 		15794011 20878.44 A G PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.00220 0.00220 0.00477 0.16 0.00 None None None None None None CELA2A|0.007945806|82.66%,CELA2B|0.004614333|86.3%

CELSR2
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 ex_013_mod 1 rs138543788
dbSNP Clinvar 		109801543 81770.41 A G PASS 0/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.00619 0.00619 0.00823 0.05 0.88 None None None None None None CELSR2|0.181244223|38.88%

CEP120
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 ex_013_mod 5 rs114281792
dbSNP Clinvar 		122725761 22720.77 T C PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.00319 0.00320 0.00444 0.42 0.04 None None None None None None CEP120|0.184727315|38.38%

CEP72
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 ex_013_mod 5 rs750519417
dbSNP Clinvar 		639205 826.51 C T PASS 0/1 50 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.39 0.00 None None None None None None CEP72|0.006647438|83.89%

CEP89
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 ex_013_mod 19 rs142812224
dbSNP Clinvar 		33378696 19431.76 T C PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.00200 0.00200 0.00531 1.00 0.00 None None None None None None CEP89|0.007695004|82.86%

CES5A
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 ex_013_mod 16 rs145577128
dbSNP Clinvar 		55903640 19484.64 G A PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.00280 0.00280 0.00469 0.02 0.99 None None None None None None CES5A|0.008462173|82.19%

CFP
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 ex_013_mod X rs61737993
dbSNP Clinvar 		47486217 4485.29 C T PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.00132 0.00133 0.00142 0.14 0.50 None None None None None None CFP|0.039345456|66%

CGN
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 ex_013_mod 1 rs750126203
dbSNP Clinvar 		151491099 1211.51 T C PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.13 0.05 None None None None None None CGN|0.026798871|71%

CHD1
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 ex_013_mod 5 rs34128229
dbSNP Clinvar 		98239582 2278.29 C T PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00031 0.13 0.80 None None None None None None CHD1|0.573996389|12.85%

CHGA
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 ex_013_mod 14 rs9658662
dbSNP Clinvar 		93398717 2971.75 C T PASS 0/1 20 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00140 0.00140 0.00239 0.13 0.00 None None None None None None CHGA|0.117443288|47.87%

CHL1
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 ex_013_mod 3 . 419622 1610.51 C G PASS 0/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.09 0.50 None None None None None None CHL1|0.133650262|45.34%

CIC
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 ex_013_mod 19 rs143825601
dbSNP Clinvar 		42796307 5555.29 C G PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.00077 1.00 0.01 None None None None None None CIC|0.189017776|37.93%

CLDN1
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 ex_013_mod 3 rs200968478
dbSNP Clinvar 		190030807 1409.51 C T PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00 1.00 None None None None None None CLDN1|0.65357815|9.96%

CLEC18C
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 ex_013_mod 16 rs3869428
dbSNP Clinvar 		70211370 28302.59 C G PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.54 0.01 None None None None None None CLEC18C|0.029999464|69.41%
View ex_013_mod 16 rs62052576
dbSNP Clinvar 		70211199 34586.99 T C PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.48 0.00 None None None None None None CLEC18C|0.029999464|69.41%

CMKLR1
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 ex_013_mod 12 rs192034694
dbSNP Clinvar 		108686549 55373.1 A G PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.00220 0.00220 0.00564 0.00 0.87 None None None None None None CMKLR1|0.083025964|54.57%

CNBP
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 ex_013_mod 3 rs140065732
dbSNP Clinvar 		128890540 2301.31 T C PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.00131 0.66 0.08 None None None None None None CNBP|0.625486656|10.92%

CNGA3
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 ex_013_mod 2 rs34314205
dbSNP Clinvar 		99006129 23263.63 C T PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.00519 0.00519 0.00861 0.10 0.06 None None None None None None CNGA3|0.053418885|61.66%

CNTROB
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 ex_013_mod 17 rs151174639
dbSNP Clinvar 		7852724 12666.97 C T PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.00459 0.00459 0.00261 0.00 1.00 None None None None None None CNTROB|0.086163509|53.91%

COL15A1
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 ex_013_mod 9 rs142838918
dbSNP Clinvar 		101824569 368.52 C G PASS 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00046 0.08 0.97 None None None None None None COL15A1|0.059345569|60.08%

COL6A5
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 ex_013_mod 3 rs916377910
dbSNP Clinvar 		130114057 906.51 G A PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.98 None None None None None None COL6A5|0.015397469|76.88%

COLGALT1
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 ex_013_mod 19 rs147899199
dbSNP Clinvar 		17679370 9326.52 G A PASS 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.00180 0.00180 0.00346 0.47 0.00 None None None None None None COLGALT1|0.065422939|58.5%