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Genes:
ABCA1, ABCA2, ABL1, ACO1, ACTL7B, ADAMTS13, ADAMTSL1, ADAMTSL2, AGPAT2, AIF1L, AK1, AKAP2, AKNA, ALAD, ALDH1B1, AMBP, ANAPC2, ANGPTL2, ANKRD18A, ANKRD18B, ANKS6, APBA1, AQP3, AQP7, ARHGEF39, ARID3C, ASB6, ASPN, ASS1, ASTN2, BAAT, BAG1, BARX1, BRD3, BRINP1, BSPRY, C5, C8G, C9orf114, C9orf117, C9orf129, C9orf131, C9orf139, C9orf141, C9orf147, C9orf152, C9orf156, C9orf163, C9orf171, C9orf172, C9orf173, C9orf24, C9orf3, C9orf38, C9orf40, C9orf41, C9orf43, C9orf47, C9orf57, C9orf62, C9orf66, C9orf69, C9orf84, C9orf89, C9orf9, C9orf96, CACFD1, CACNA1B, CAMSAP1, CARD9, CBWD1, CCDC107, CCDC171, CCDC183, CDK20, CDK5RAP2, CERCAM, CIZ1, CLIC3, CNTLN, CNTNAP3, CNTNAP3B, CNTRL, COL15A1, COL27A1, COL5A1, COQ4, CRAT, CRB2, CTNNAL1, CTSL, DAPK1, DBH, DDX31, DDX58, DEC1, DENND1A, DENND4C, DFNB31, DMRT1, DMRT2, DMRT3, DNAJA1, DNM1, DOCK8, DOLPP1, DPM2, DPP7, ECM2, EGFL7, ENG, ENTPD8, EPB41L4B, EQTN, ERCC6L2, ERMP1, EXD3, EXOSC3, FAM102A, FAM129B, FAM154A, FAM166A, FAM166B, FAM189A2, FAM205A, FAM214B, FAM219A, FAM221B, FAM69B, FAM78A, FBP1, FBP2, FBXO10, FBXW5, FCN1, FCN2, FGD3, FKBP15, FNBP1, FOCAD, FOXE1, FREM1, FRMD3, FRMPD1, FRRS1L, FSD1L, FUT7, FXN, GABBR2, GAPVD1, GDA, GLDC, GLE1, GLIS3, GLT6D1, GNA14, GOLGA1, GPR107, GPR144, GPSM1, GRHPR, GRIN1, GRIN3A, GTF3C4, HABP4, HAUS6, HDHD3, HMCN2, HRCT1, IDNK, IFNA1, IFNA16, IFNA5, IFNA6, IFNB1, IFNK, IKBKAP, IL33, INPP5E, INVS, IZUMO3, KANK1, KCNT1, KCNV2, KDM4C, KIAA0020, KIAA1161, KIAA1432, KIAA2026, KIF24, KIF27, KLHL9, LAMC3, LCN12, LCN15, LCN9, LHX2, LHX3, LMX1B, LRRC26, LRRC8A, LRSAM1, LURAP1L, MAMDC2, MAMDC4, MAN1B1, MAPKAP1, MEGF9, MELK, MLLT3, MOB3B, MORN5, MPDZ, MSANTD3, MTAP, MUSK, MVB12B, NACC2, NAIF1, NANS, NDOR1, NEK6, NELFB, NFIL3, NINJ1, NIPSNAP3A, NMRK1, NOL6, NOL8, NOTCH1, NOXA1, NPDC1, NPR2, NR4A3, NTMT1, NTNG2, NUP188, NUP214, NUTM2F, OBP2A, OBP2B, ODF2, OLFM1, OLFML2A, OR13C3, OR13C5, OR13C9, OR13D1, OR13F1, OR13J1, OR1B1, OR1J1, OR1L1, OR1L4, OR1L6, OR1L8, OR1N1, OR1N2, OR1Q1, ORM1, ORM2, OSTF1, PALM2-AKAP2, PAPPA, PAPPA-AS1, PAX5, PCSK5, PDCD1LG2, PHF19, PHYHD1, PIP5K1B, PIP5KL1, PMPCA, PNPLA7, POLR1E, POMT1, PPAPDC3, PPP1R26, PPP6C, PRDM12, PRRC2B, PRSS3, PRUNE2, PSAT1, PSMD5, PTCH1, PTGDS, PTGES2, PTGS1, PTPLAD2, PTPRD, QSOX2, RABEPK, RABL6, RAD23B, RALGDS, RAPGEF1, RASEF, RC3H2, REXO4, RFK, RGP1, RGS3, RLN1, RMI1, RNF224, ROR2, RORB, RP11-145E5.5, RUSC2, SARDH, SCAI, SDCCAG3, SEC16A, SECISBP2, SEMA4D, SETX, SH2D3C, SH3GLB2, SHB, SLC1A1, SLC24A2, SLC25A25, SLC2A6, SLC31A2, SLC34A3, SLC35D2, SLC46A2, SMARCA2, SMC5, SNAPC4, SNX30, SOHLH1, SPATA31D1, SPATA31E1, SPTAN1, STRBP, SURF2, SVEP1, SYK, TAF1L, TBC1D13, TBC1D2, TDRD7, TEK, TJP2, TLE1, TLE4, TLN1, TLR4, TMC1, TMEFF1, TMEM2, TMEM215, TMEM245, TMEM246, TMEM8C, TNC, TNFSF15, TNFSF8, TOR1B, TOR2A, TPD52L3, TPRN, TRAF1, TRBV23OR9-2, TRPM3, TRPM6, TSTD2, TTC16, TTC39B, TTF1, TTLL11, TUSC1, TYRP1, UAP1L1, UBAC1, UBAP2, UCK1, UGCG, UHRF2, USP20, VAV2, WDR34, WDR38, WDR5, WNK2, ZBTB43, ZBTB5, ZCCHC6, ZDHHC12, ZDHHC21, ZFAND5, ZFP37, ZNF462, ZNF618, ZNF658, ZNF79,

Genes at Omim

ABCA1, ABL1, ADAMTS13, ADAMTSL2, AGPAT2, AK1, ALAD, ANKS6, AQP3, AQP7, ASPN, ASS1, BAAT, C5, CACNA1B, CARD9, CDK5RAP2, COL27A1, COL5A1, COQ4, CRAT, CRB2, DBH, DDX58, DEC1, DNM1, DOCK8, DPM2, ENG, ERCC6L2, EXOSC3, FBP1, FOXE1, FREM1, FRRS1L, FXN, GLDC, GLE1, GLIS3, GRHPR, GRIN1, IFNA1, IKBKAP, INPP5E, INVS, KANK1, KCNT1, KCNV2, LAMC3, LHX3, LMX1B, LRRC8A, LRSAM1, MAN1B1, MPDZ, MTAP, MUSK, NANS, NOTCH1, NPR2, NUP214, PAX5, PMPCA, POMT1, PRDM12, PSAT1, PTCH1, ROR2, SARDH, SECISBP2, SETX, SLC1A1, SLC34A3, SMARCA2, SPTAN1, TDRD7, TEK, TJP2, TMC1, TNC, TPRN, TRPM6, TYRP1, WDR34,
ABCA1 HDL deficiency, type 2, 604091 (3)
Tangier disease, 205400 (3)
{Coronary artery disease in familial hypercholesterolemia, protection against}, 143890 (3)
ABL1 Leukemia, Philadelphia chromosome-positive, resistant to imatinib (3)
ADAMTS13 Thrombotic thrombocytopenic purpura, familial, 274150 (3)
ADAMTSL2 Geleophysic dysplasia 1, 231050 (3)
AGPAT2 Lipodystrophy, congenital generalized, type 1, 608594 (3)
AK1 Hemolytic anemia due to adenylate kinase deficiency, 612631 (3)
ALAD Porphyria, acute hepatic, 612740 (3)
{Lead poisoning, susceptibility to}, 612740 (3)
ANKS6 Nephronophthisis 16, 615382 (3)
AQP3 [Blood group GIL], 607457 (3)
AQP7 [Glycerol quantitative trait locus], 614411 (3)
ASPN {Lumbar disc degeneration}, 603932 (3)
{Osteoarthritis susceptibility 3}, 607850 (3)
ASS1 Citrullinemia, 215700 (3)
BAAT Hypercholanemia, familial, 607748 (3)
C5 C5 deficiency, 609536 (3)
[Eculizumab, poor response to], 615749 (3)
CACNA1B ?Dystonia 23, 614860 (3)
CARD9 Candidiasis, familial, 2, autosomal recessive, 212050 (3)
CDK5RAP2 Microcephaly 3, primary, autosomal recessive, 604804 (3)
COL27A1 ?Steel syndrome, 615155 (3)
COL5A1 Ehlers-Danlos syndrome, classic type, 130000 (3)
COQ4 Coenzyme Q10 deficiency, primary, 7, 616276 (3)
CRAT ?Carnitine acetyltransferase deficiency (1)
CRB2 Focal segmental glomerulosclerosis 9, 616220 (3)
Ventriculomegaly with cystic kidney disease, 219730 (3)
DBH Dopamine beta-hydroxylase deficiency, 223360 (3)
[Dopamine-beta-hydroxylase activity levels, plasma] (3)
DDX58 Singleton-Merten syndrome 2, 616298 (3)
DEC1 Esophageal squamous cell carcinoma, 133239 (1)
DNM1 Epileptic encephalopathy, early infantile, 31, 616346 (3)
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive, 243700 (3)
DPM2 Congenital disorder of glycosylation, type Iu, 615042 (3)
ENG Telangiectasia, hereditary hemorrhagic, type 1, 187300 (3)
ERCC6L2 Bone marrow failure syndrome 2, 615715 (3)
EXOSC3 Pontocerebellar hypoplasia, type 1B, 614678 (3)
FBP1 Fructose-1,6-bisphosphatase deficiency, 229700 (3)
FOXE1 Bamforth-Lazarus syndrome, 241850 (3)
{Thyroid cancer, nonmedullary, 4}, 616534 (3)
FREM1 Bifid nose with or without anorectal and renal anomalies, 608980 (3)
Manitoba oculotrichoanal syndrome, 248450 (3)
Trigonocephaly 2, 614485 (3)
FRRS1L Epileptic encephalopathy, early infantile, 37, 616981 (3)
FXN Friedreich ataxia with retained reflexes, 229300 (3)
Friedreich ataxia, 229300 (3)
GLDC Glycine encephalopathy, 605899 (3)
GLE1 Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3)
Lethal congenital contracture syndrome 1, 253310 (3)
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)
GRHPR Hyperoxaluria, primary, type II, 260000 (3)
GRIN1 Mental retardation, autosomal dominant 8, 614254 (3)
IFNA1 Interferon, alpha, deficiency (1)
IKBKAP Dysautonomia, familial, 223900 (3)
INPP5E Joubert syndrome 1, 213300 (3)
Mental retardation, truncal obesity, retinal dystrophy, and micropenis, 610156 (3)
INVS Nephronophthisis 2, infantile, 602088 (3)
KANK1 Cerebral palsy, spastic quadriplegic, 2, 612900 (3)
KCNT1 Epilepsy, nocturnal frontal lobe, 5, 615005 (3)
Epileptic encephalopathy, early infantile, 14, 614959 (3)
KCNV2 Retinal cone dystrophy 3B, 610356 (3)
LAMC3 Cortical malformations, occipital, 614115 (3)
LHX3 Pituitary hormone deficiency, combined, 3, 221750 (3)
LMX1B Nail-patella syndrome, 161200 (3)
LRRC8A ?Agammaglobulinemia 5, 613506 (3)
LRSAM1 Charcot-Marie-Toothe disease, axonal, type 2P, 614436 (3)
MAN1B1 Mental retardation, autosomal recessive 15, 614202 (3)
MPDZ Hydrocephalus, nonsyndromic, autosomal recessive 2, 615219 (3)
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma, 112250 (3)
MUSK Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency, 616325 (3)
NANS Spondyloepimetaphyseal dysplasia, Camera-Genevieve type, 610442 (3)
NOTCH1 Adams-Oliver syndrome 5, 616028 (3)
Aortic valve disease 1, 109730 (3)
NPR2 Acromesomelic dysplasia, Maroteaux type, 602875 (3)
Epiphyseal chondrodysplasia, Miura type, 615923 (3)
Short stature with nonspecific skeletal abnormalities, 616255 (3)
NUP214 Leukemia, T-cell acute lymphoblastic, somatic, 613065 (3)
Leukemia, acute myeloid, somatic, 601626 (3)
PAX5 {Leukemia, acute lymphoblastic, susceptibility to, 3}, 615545 (3)
PMPCA Spinocerebellar ataxia, autosomal recessive 2, 213200 (3)
POMT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1, 236670 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1, 613155 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1, 609308 (3)
PRDM12 Neuropathy, hereditary sensory and autonomic, type VIII, 616488 (3)
PSAT1 ?Phosphoserine aminotransferase deficiency, 610992 (3)
Neu-Laxova syndrome 2, 616038 (3)
PTCH1 Basal cell carcinoma, somatic, 605462 (3)
Basal cell nevus syndrome, 109400 (3)
Holoprosencephaly 7, 610828 (3)
ROR2 Brachydactyly, type B1, 113000 (3)
Robinow syndrome, autosomal recessive, 268310 (3)
SARDH [Sarcosinemia], 268900 (3)
SECISBP2 Thyroid hormone metabolism, abnormal, 609698 (3)
SETX Amyotrophic lateral sclerosis 4, juvenile, 602433 (3)
Spinocerebellar ataxia, autosomal recessive 1, 606002 (3)
SLC1A1 Dicarboxylic aminoaciduria, 222730 (3)
{?Schizophrenia susceptibility 18}, 615232 (3)
SLC34A3 Hypophosphatemic rickets with hypercalciuria, 241530 (3)
SMARCA2 Nicolaides-Baraitser syndrome, 601358 (3)
SPTAN1 Epileptic encephalopathy, early infantile, 5, 613477 (3)
TDRD7 Cataract 36, 613887 (3)
TEK Venous malformations, multiple cutaneous and mucosal, 600195 (3)
TJP2 Cholestasis, progressive familial intrahepatic 4, 615878 (3)
Hypercholanemia, familial, 607748 (3)
TMC1 Deafness, autosomal dominant 36, 606705 (3)
Deafness, autosomal recessive 7, 600974 (3)
TNC Deafness, autosomal dominant 56, 615629 (3)
TPRN Deafness, autosomal recessive 79, 613307 (3)
TRPM6 Hypomagnesemia 1, intestinal, 602014 (3)
TYRP1 Albinism, oculocutaneous, type III, 203290 (3)
[Skin/hair/eye pigmentation, variation in, 11 (Melanesian blond hair)], 612271 (3)
WDR34 Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)

Genes at Clinical Genomics Database

ABCA1, ADAMTS13, ADAMTSL2, AGPAT2, AK1, ALAD, ANKS6, AQP3, ASS1, BAAT, C5, CACNA1B, CARD9, CDK5RAP2, CIZ1, COL27A1, COL5A1, COQ4, CRB2, DBH, DDX58, DNM1, DOCK8, DPM2, ENG, ERCC6L2, EXOSC3, FBP1, FOXE1, FREM1, FXN, GLDC, GLE1, GLIS3, GRHPR, GRIN1, IKBKAP, INPP5E, INVS, KANK1, KCNT1, KCNV2, LAMC3, LHX3, LMX1B, LRRC8A, LRSAM1, MAN1B1, MPDZ, MTAP, MUSK, NOTCH1, NPR2, PAX5, PMPCA, POMT1, PRDM12, PSAT1, PTCH1, ROR2, SECISBP2, SETX, SLC1A1, SLC34A3, SMARCA2, SPTAN1, TDRD7, TEK, TJP2, TMC1, TNC, TPRN, TRPM6, TYRP1, WDR34,
ABCA1 HDL deficiency, type 2
Tangier disease
ABCA1 deficiency
ADAMTS13 Schulman-Upshaw syndrome
Thrombotic thrombocytopenic purpura, familial
ADAMTSL2 Geleophysic dysplasia 1
AGPAT2 Lipodystrophy, congenital generalized, type 1
AK1 Adenylate kinase deficiency, hemolytic anemia due to
ALAD Porphyria, acute hepatic
ANKS6 Nephronophthisis 16
AQP3 Blood group, GIL
ASS1 Citrullinemia
BAAT Hypercholanemia, familial
C5 Complement component 5 deficiency
Eculizumab, poor response to
CACNA1B Dystonia 23
CARD9 Candidiasis, familial, 2
CDK5RAP2 Microcephaly, primary autosomal recessive, 3
CIZ1 Primary cervical dystonia, adult-onset
COL27A1 Steel syndrome
COL5A1 Ehlers-Danlos syndrome, type II
Ehlers-Danlos syndrome, type I
COQ4 Coenzyme Q10 deficiency 7
CRB2 Ventriculomegaly with cystic kidney disease
Focal segmental glomerulosclerosis 9
DBH Dopamine beta-hydroxylase deficiency
DDX58 Singleton-Merten syndrome 2
DNM1 Epileptic encephalopathy, early infantile 31
DOCK8 Hyper-IgE recurrent infection syndrome, autosomal recessive
DPM2 Congenital disorder of glycosylation, type Iu
ENG Juvenile polyposis syndrome
Hereditary hemorrhagic telangiectasia, type 1
ERCC6L2 Bone marrow failure syndrome 2
EXOSC3 Pontocerebellar hypoplasia type 1B
FBP1 Fructose-1,6-bisphosphatase deficiency
FOXE1 Congenital hypothyroidism
Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome)
Thyroid cancer, nonmedullary 4
FREM1 Congenital diaphragmatic hernia, autosomal recessive
Manitoba oculotrichoanal syndrome
Trigonocephaly 2
Bifid nose with or without anorectal and renal anomalies
FXN Friedreich ataxia
GLDC Glycine encephalopathy
GLE1 Lethal congenital contracture syndrome 1
Arthrogryposis, lethal, with anterior horn cell disease
GLIS3 Diabetes mellitus, neonatal, with congenital hypothyroidism
GRHPR Hyperoxaluria, primary, type II
GRIN1 Mental retardation, autosomal dominant 8
IKBKAP Dysautonomia, familial
INPP5E Mental retardation, truncal obesity, retinal dystrophy, and micropenis (MORM syndrome)
Joubert syndrome 1
INVS Nephronophthisis 2
KANK1 Cerebral palsy, spastic quadriplegic, 2
KCNT1 Early infantile epileptic encephalopathy 14
Epilepsy, nocturnal frontal lobe, 5
KCNV2 Retinal cone dystrophy 3B
LAMC3 Cortical malformations, occipital
LHX3 Pituitary hormone deficiency, combined, 3
LMX1B Nail-patella syndrome
LRRC8A Agammaglobulinemia 5
LRSAM1 Charcot-Marie-Tooth disease, axonal, type 2P
MAN1B1 Mental retardation, autosomal recessive 15
MPDZ Hydrocephalus, nonsyndromic, autosomal recessive 2
MTAP Diaphyseal medullary stenosis with malignant fibrous histiocytoma
MUSK Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
NOTCH1 Aortic valve disease
NPR2 Acromesomelic dysplasia, Maroteaux type
Short stature with nonspecific skeletal abnormalities
Epiphyseal chondrodysplasia, Miura type
PAX5 Pre-B cell acute lymphoblastic leukemia
PMPCA Spinocerebellar ataxia, autosomal recessive 2
POMT1 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1
PRDM12 Neuropathy, hereditary sensory and autonomic, type VIII
PSAT1 Phosphoserine aminotransferase deficiency
PTCH1 Basal cell nevus syndrome
ROR2 Brachydactyly, type B1
Robinow syndrome, autosomal recessive
SECISBP2 Selenoprotein deficiency
SETX Ataxia with oculomotor apraxia, type 2
Amyotrophic lateral sclerosis 4, juvenile
Spinocerebellar ataxia, autosomal recessive 1
SLC1A1 Dicarboxylic aminoaciduria
SLC34A3 Hypophosphatemic rickets with hypercalciuria, hereditary
SMARCA2 Nicolaides-Baraitser syndrome
SPTAN1 Epileptic encephalopathy, early infantile, 5
TDRD7 Cataract, autosomal recessive congenital 4
TEK Venous malformations, multiple cutaneous and mucosal
TJP2 Cholestasis, progressive familial intrahepatic 4
Hypercholanemia, familial
TMC1 Deafness, autosomal recessive 7
TNC Deafness, autosomal dominant 56
TPRN Deafness, autosomal recessive 79
TRPM6 Hypomagnesemia 1, intestinal
TYRP1 Albinism, oculocutaneous, type III
WDR34 Short -rib thoracic dysplasia 11 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 5391
Number of Genes: 398

Export to: CSV

C8G

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs17613
dbSNP
139840560 981.77 C A . 0/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10783 0.10780 0.15710 0.08 0.02 None None None None None None None
View mm170241ct 9 rs7850844
dbSNP
139840543 1624.77 A G . 1/1 50 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96725 0.96730 0.04834 1.00 0.00 None None None None None None None
View mm170241ct 9 rs2071006
dbSNP
139839904 319.77 T G . 0/1 35 SYNONYMOUS_CODING LOW SILENT 0.56769 0.56770 0.45217 None None None None None None None
View mm170241ct 9 rs20574
dbSNP
139840580 1063.77 C T . 0/1 57 SYNONYMOUS_CODING LOW SILENT 0.10843 0.10840 0.15759 None None None None None None None

C9orf114

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs7033070
dbSNP
131586374 714.77 G A . 1/1 21 SYNONYMOUS_CODING LOW SILENT 0.35982 0.35980 0.33092 None None None None None None None
View mm170241ct 9 rs6478854
dbSNP
131588888 1841.77 G C . 1/1 54 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46146 0.46150 0.42027 0.55 0.00 None None None None None None None

C9orf117

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs497632
dbSNP
130475442 481.77 A C . 0/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.53674 0.53670 0.41920 0.18 0.08 None None None None None None None
View mm170241ct 9 rs522328
dbSNP
130475011 939.77 T C . 0/1 64 SYNONYMOUS_CODING LOW SILENT 0.63738 0.63740 0.33645 None None None None None None None

C9orf129

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs199652907
dbSNP
96097916 115.77 G A . 0/1 47 SYNONYMOUS_CODING LOW SILENT 0.06270 0.06270 None None None None None None None
View mm170241ct 9 rs4744219
dbSNP
96097662 424.77 G A . 0/1 42 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06290 0.06290 0.01 0.70 None None None None None None None
View mm170241ct 9 rs3122944
dbSNP
96097747 1818.77 C T . 1/1 70 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63059 0.63060 0.01 0.02 None None None None None None None

C9orf131

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs615474
dbSNP
35043291 2418.77 G T . 1/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65395 0.65400 0.28779 1.00 0.00 None None None None None None None

C9orf139

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs12337910
dbSNP
139929435 1120.77 A G . 0/1 99 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08846 0.08846 0.11743 0.33 0.00 None None None None None None None

C9orf141

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs11787588
dbSNP
139863909 452.77 C T . 1/1 15 SYNONYMOUS_CODING LOW SILENT 0.13399 0.13400 None None None None None None None
View mm170241ct 9 rs12351283
dbSNP
139864438 805.77 G C . 1/1 25 SYNONYMOUS_CODING LOW SILENT 0.14577 0.14580 None None None None None None None
View mm170241ct 9 rs11790360
dbSNP
139866247 1003.77 T G . 1/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35803 0.35800 0.79 0.00 None None None None None None None
View mm170241ct 9 rs2386136
dbSNP
139864341 75.28 A G . 1/1 3 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35803 0.35800 0.96 0.00 None None None None None None None
View mm170241ct 9 rs11787585
dbSNP
139863841 443.77 C T . 1/1 16 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.13379 0.13380 0.00 0.77 None None None None None None None

C9orf147

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs7031191
dbSNP
115249433 955.77 T C . 1/1 32 SYNONYMOUS_CODING LOW SILENT 0.95128 0.95130 None None None None None None None
View mm170241ct 9 rs6477940
dbSNP
115249262 408.77 T C . 1/1 11 SYNONYMOUS_CODING LOW SILENT None None None None None None None

C9orf152

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs4978888
dbSNP
112963702 1082.77 G A . 0/1 86 SYNONYMOUS_CODING LOW SILENT 0.21805 0.21810 0.20460 None None None None None None None
View mm170241ct 9 rs10120707
dbSNP
112963504 1632.77 A G . 0/1 96 SYNONYMOUS_CODING LOW SILENT 0.96905 0.96900 0.07566 None None None None None None None

C9orf156

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs3183928
dbSNP
100684719 222.77 A C . 0/1 38 SYNONYMOUS_CODING LOW SILENT 0.26518 0.26520 0.30684 None None None None None None None
View mm170241ct 9 rs3183927
dbSNP
100684757 296.77 A G . 0/1 33 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26498 0.26500 0.30403 1.00 0.00 None None None None None None None
View mm170241ct 9 rs1127703
dbSNP
100675816 724.77 A G . 0/1 66 SYNONYMOUS_CODING LOW SILENT 0.17013 0.17010 0.23366 None None None None None None None

C9orf163

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs34376913
dbSNP
139378914 66.77 T C . 0/1 6 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15156 0.15160 0.16099 0.00 0.88 None None None None None None None

C9orf171

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs562350
dbSNP
135374898 800.77 T C . 0/1 82 SYNONYMOUS_CODING LOW SILENT 0.67832 0.67830 0.37537 None None None None None None None

C9orf172

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs10870132
dbSNP
139739643 196.84 T C . 1/1 6 SYNONYMOUS_CODING LOW SILENT 0.78914 0.78910 None None None None None None None

C9orf173

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs61759822
dbSNP
140147273 318.77 C T . 0/1 38 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14277 0.14280 0.08734 0.11 0.93 None None None None None None None
View mm170241ct 9 rs28376526
dbSNP
140147152 285.77 C G . 0/1 26 SYNONYMOUS_CODING LOW SILENT 0.60982 0.60980 0.31119 None None None None None None None

C9orf24

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs3808876
dbSNP
34382726 377.77 A G . 0/1 26 None None None 0.59964 0.59960 0.46978 0.24 0.02 None None None None None None None
View mm170241ct 9 rs11790577
dbSNP
34397545 256.77 A G . 0/1 37 SYNONYMOUS_CODING LOW SILENT 0.40435 0.40440 0.45125 None None None None None None None

C9orf3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs10761364
dbSNP
97768286 1153.77 T C . 0/1 100 None None None 0.69149 0.69150 0.07 0.00 None None None None None None None

C9orf38

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs3739654
dbSNP
6468447 1364.77 A G . 0/1 98 SYNONYMOUS_CODING LOW SILENT 0.33826 0.33830 None None None None None None None

C9orf40

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs2769058
dbSNP
77563087 1645.77 C T . 0/1 130 SYNONYMOUS_CODING LOW SILENT 0.32328 0.32330 0.30225 None None None None None None None

C9orf41

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs12380147
dbSNP
77613539 2402.77 A G . 0/1 184 SYNONYMOUS_CODING LOW SILENT 0.00100 0.00100 0.00638 None None None None None None None

C9orf43

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs111841972
dbSNP
116191205 2134.77 A C . 0/1 195 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03954 0.03954 0.04229 0.44 0.00 None None None None None None None
View mm170241ct 9 rs111748634
dbSNP
116187302 1924.77 C G . 0/1 142 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04014 0.04014 0.04213 0.01 1.00 None None None None None None D

C9orf47

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs201976671
dbSNP
91606398 322.77 C G . 0/1 37 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00978 0.00978 0.00595 0.00 0.95 None None None None None None None
View mm170241ct 9 rs34421923
dbSNP
91606812 809.77 G A . 0/1 67 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00799 0.00799 0.01630 0.06 0.38 None None None None None None None

C9orf57

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs13295099
dbSNP
74671719 449.77 T C . 0/1 45 SYNONYMOUS_CODING LOW SILENT 0.26637 0.26640 0.45751 None None None None None None None

C9orf62

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs914397
dbSNP
138236212 1749.77 T G . 1/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.73303 0.73300 0.85 0.00 None None None None None None None
View mm170241ct 9 rs914398
dbSNP
138236031 2758.77 A G . 1/1 85 SYNONYMOUS_CODING LOW SILENT 0.52496 0.52500 None None None None None None None

C9orf66

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs62533313
dbSNP
214908 917.77 T C . 0/1 78 SYNONYMOUS_CODING LOW SILENT 0.08726 0.08726 0.09332 None None None None None None None
View mm170241ct 9 rs481905
dbSNP
215057 686.77 T C . 0/1 44 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.64157 0.64160 0.42916 0.93 0.00 None None None None None None None
View mm170241ct 9 rs2236547
dbSNP
214864 932.77 C T . 0/1 92 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32548 0.32550 0.21597 1.00 0.00 None None None None None None None
View mm170241ct 9 . 215199 339.77 A C . 0/1 24 SYNONYMOUS_CODING LOW SILENT None None None None None None None

C9orf69

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs3739466
dbSNP
139008803 222.77 T G . 0/1 15 None None None 0.44828 0.44830 None None None None None None None

C9orf84

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs1407390
dbSNP
114464487 2723.77 T C . 0/1 168 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85024 0.85020 0.18868 0.26 0.00 None None None None None None None
View mm170241ct 9 rs1475110
dbSNP
114454580 2746.77 A G . 1/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99840 0.99840 0.00261 1.00 0.00 None None None None None None None
View mm170241ct 9 rs6477845
dbSNP
114462322 1470.77 A G . 0/1 102 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.83247 0.83250 0.20566 0.27 0.00 None None None None None None None
View mm170241ct 9 rs7036568
dbSNP
114468966 2488.77 A C . 0/1 182 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.21745 0.21750 0.28007 0.10 0.00 None None None None None None None
View mm170241ct 9 rs11791445
dbSNP
114476748 5734.77 T A . 0/1 392 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14337 0.14340 0.21224 0.13 0.01 None None None None None None None
View mm170241ct 9 rs12352352
dbSNP
114484783 2932.77 A G . 0/1 211 SYNONYMOUS_CODING LOW SILENT 0.14357 0.14360 0.21259 None None None None None None None
View mm170241ct 9 rs10512411
dbSNP
114490229 2157.77 T G . 0/1 168 SYNONYMOUS_CODING LOW SILENT 0.14357 0.14360 0.21223 None None None None None None None
View mm170241ct 9 rs7470491
dbSNP
114490308 1246.77 T C . 0/1 131 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82768 0.82770 0.21443 0.40 0.00 None None None None None None None

C9orf89

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs17593496
dbSNP
95872885 362.77 C T . 0/1 27 SYNONYMOUS_CODING LOW SILENT 0.05950 0.05950 0.11333 None None None None None None None

C9orf9

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs2073869
dbSNP
135763816 906.77 C T . 0/1 63 SYNONYMOUS_CODING LOW SILENT 0.20288 0.20290 0.18038 None None None None None None None

C9orf96

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs41302673
dbSNP
136270538 342.77 T G . 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03734 0.03734 0.07066 0.01 0.90 None None None None None None None
View mm170241ct 9 rs3124748
dbSNP
136268038 979.77 C T . 1/1 28 SYNONYMOUS_CODING LOW SILENT 0.44349 0.44350 0.42957 None None None None None None None

CACFD1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs3124765
dbSNP
136328657 446.77 T C . 0/1 46 SYNONYMOUS_CODING LOW SILENT 0.00260 0.84110 0.20145 None None None None None None None

CACNA1B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs2229951
dbSNP
140865989 403.77 A T . 0/1 37 SYNONYMOUS_CODING LOW SILENT 0.06589 0.06589 0.10296 None None None None None None None
View mm170241ct 9 rs2278973
dbSNP
141016262 1296.77 T G . 1/1 37 SYNONYMOUS_CODING LOW SILENT 0.91074 0.91070 0.07300 None None None None None None None
View mm170241ct 9 rs4422842
dbSNP
140777306 1371.77 C G . 0/1 83 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15400 0.01 0.25 None None None None None None None
View mm170241ct 9 rs2229948
dbSNP
141008876 1363.77 C T . 1/1 46 SYNONYMOUS_CODING LOW SILENT 0.50459 0.50460 0.37206 None None None None None None None

CAMSAP1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs35981196
dbSNP
138742077 1501.77 C G . 0/1 116 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.12161 0.12160 0.18507 None None None None None None None

CARD9

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs4077515
dbSNP
139266496 335.77 C T . 0/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36661 0.36660 0.37306 0.52 0.00 None None None None None None None
View mm170241ct 9 rs10781499
dbSNP
139266405 412.77 G A . 0/1 33 SYNONYMOUS_CODING LOW SILENT 0.36621 0.36620 0.37429 None None None None None None None

CBWD1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 . 154795 4941.77 T C . 1/1 196 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.78694 0.23615 None None None None None None None

CCDC107

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs1339374
dbSNP
35660990 770.77 A G . 0/1 51 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81330 0.81330 0.25773 0.23 0.00 None None None None None None None

CCDC171

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs4741510
dbSNP
15591372 1098.77 T A . 0/1 78 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35403 0.35400 0.29826 0.44 0.00 None None None None None None None

CCDC183

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs2811795
dbSNP
139700605 829.77 T C . 1/1 23 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85344 0.85340 0.14727 0.99 0.00 None None None None None None None
View mm170241ct 9 rs2254143
dbSNP
139701108 2032.77 A C . 1/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80651 0.80650 0.19493 1.00 0.00 None None None None None None None

CDK20

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs665983
dbSNP
90588903 1875.77 C T . 1/1 54 SYNONYMOUS_CODING LOW SILENT 0.67033 0.67030 0.17623 None None None None None None None

CDK5RAP2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs2501727
dbSNP
123220829 772.77 A G . 0/1 47 SYNONYMOUS_CODING LOW SILENT 0.23283 0.23280 0.18407 None None None None None None None
View mm170241ct 9 rs4836822
dbSNP
123291036 527.77 C G . 0/1 47 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80112 0.80110 0.15162 0.06 0.40 None None None None None None None
View mm170241ct 9 rs3780679
dbSNP
123205912 920.77 C G . 0/1 78 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07528 0.07528 0.08119 1.00 0.00 None None None None None None None
View mm170241ct 9 rs6478475
dbSNP
123182202 1606.77 C T . 0/1 104 SYNONYMOUS_CODING LOW SILENT 0.08666 0.08666 0.09403 None None None None None None None

CERCAM

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs7259
dbSNP
131196704 200.77 G A . 0/1 19 SYNONYMOUS_CODING LOW SILENT 0.37620 0.37620 0.32477 None None None None None None None
View mm170241ct 9 rs7258
dbSNP
131196695 225.77 C T . 0/1 21 SYNONYMOUS_CODING LOW SILENT 0.29473 0.29470 0.24074 None None None None None None None

CIZ1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs11549266
dbSNP
130938661 650.77 C T . 0/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05451 0.05451 0.09895 0.60 0.02 None None None None None None None

CLIC3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs149417490
dbSNP
139889162 29.77 C A LowQual 0/1 9 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00799 0.00799 0.01520 0.02 0.96 None None None None None None None

CNTLN

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs2499058
dbSNP
17494947 55.74 G A . 1/1 3 None None None 0.43510 0.43510 0.00 None None None None None None None
View mm170241ct 9 rs2780211
dbSNP
17409366 14280.77 G A . 1/1 396 SYNONYMOUS_CODING LOW SILENT 0.83886 0.83890 0.13003 None None None None None None None
View mm170241ct 9 rs41306071
dbSNP
17135115 107.77 C T . 0/1 8 SYNONYMOUS_CODING LOW SILENT 0.13139 0.13140 0.21759 None None None None None None None
View mm170241ct 9 rs7035276
dbSNP
17394536 2108.77 C T . 1/1 59 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.78055 0.78060 0.17913 0.27 0.00 None None None None None None None
View mm170241ct 9 rs1442527
dbSNP
17342383 7295.77 C T . 1/1 212 SYNONYMOUS_CODING LOW SILENT 0.94948 0.94950 0.04852 None None None None None None None
View mm170241ct 9 rs3739489
dbSNP
17394996 4559.77 T C . 1/1 130 SYNONYMOUS_CODING LOW SILENT 0.84105 0.84110 0.12680 None None None None None None None

CNTNAP3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs138164531
dbSNP
39178215 5517.77 T C . 0/1 583 SYNONYMOUS_CODING LOW SILENT 0.00639 0.00639 0.01530 None None None None None None None

CNTNAP3B

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs62554983,rs78690476
dbSNP
43816656 571.77 T C . 1/1 30 SYNONYMOUS_CODING LOW SILENT None None None None None None None
View mm170241ct 9 rs62536501
dbSNP
43861081 160.9 T G . 1/1 12 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40 0.00 None None None None None None None
View mm170241ct 9 rs1693071,rs200740249
dbSNP
43853546 671.77 C T . 0/1 110 SYNONYMOUS_CODING LOW SILENT None None None None None None None

CNTRL

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs10818504
dbSNP
123860689 3586.77 C T . 0/1 244 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43091 0.43090 0.34915 0.08 None None None None None None None
View mm170241ct 9 rs10818503
dbSNP
123850770 3761.77 G A . 0/1 254 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63958 0.63960 0.43034 0.02 None None None None None None None
View mm170241ct 9 rs3736855
dbSNP
123917020 729.77 T A . 0/1 42 SYNONYMOUS_CODING LOW SILENT 0.43211 0.43210 0.35099 None None None None None None None

COL15A1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs2297603
dbSNP
101778265 337.77 G T . 0/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08526 0.08526 0.07858 0.07 0.00 None None None None None None None

COL27A1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mm170241ct 9 rs10982134
dbSNP
117050998 744.77 G A . 0/1 52 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.42372 0.42370 0.30048 0.00 None None None None None None None
View mm170241ct 9 rs10982110
dbSNP
116980052 285.77 C T . 0/1 26 None None None 0.52676 0.52680 None None None None None None None
View mm170241ct 9 rs4143245
dbSNP
117033022 586.77 T C . 0/1 40 SYNONYMOUS_CODING LOW SILENT 0.39078 0.39080 0.39905 None None None None None None None
View mm170241ct 9 rs2787330
dbSNP
117044751 567.77 T C . 0/1 45 SYNONYMOUS_CODING LOW SILENT 0.85403 0.85400 0.21518 None None None None None None None