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ASH-3 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1404 mutations reported
494 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
NM_133482.1p.L503Vc.1507T>GSubstitution - Missense
CPEB2ENSG00000137449ENST00000259997p.R290Hc.869G>ASubstitution - Missense
FSTL4ENSG00000053108ENST00000265342p.P251Hc.752C>ASubstitution - Missense
APOL4ENSG00000100336ENST00000352371p.N130Ic.389A>TSubstitution - Missense
DMRTC2ENSG00000142025ENST00000269945p.C12Cc.36C>TSubstitution - coding silent
NOTCH3ENSG00000074181ENST00000263388p.L1891Lc.5673C>TSubstitution - coding silent
C10orf128ENSG00000204161ENST00000453436p.?c.239-2A>TUnknown
POU5F1BENSG00000212993ENST00000465342p.G59Gc.177G>TSubstitution - coding silent
MASP1ENSG00000127241ENST00000296280p.T612Tc.1836C>TSubstitution - coding silent
HERC5ENSG00000138646ENST00000264350p.L391Vc.1171C>GSubstitution - Missense
PRICKLE4ENSG00000124593ENST00000359201p.R102Qc.305G>ASubstitution - Missense
SMARCD2ENSG00000108604ENST00000323347p.?c.300+4A>GUnknown
DHX40ENSG00000108406ENST00000451169p.D150Hc.448G>CSubstitution - Missense
ENST00000335056_v70p.N77Kc.231C>ASubstitution - Missense
SUGP2ENSG00000064607ENST00000456085p.T613Mc.1838C>TSubstitution - Missense
KCNH5ENSG00000140015ENST00000394968p.V174Ic.520G>ASubstitution - Missense
SLC5A9ENSG00000117834ENST00000236495p.P275Rc.824C>GSubstitution - Missense
FAM65CENSG00000042062ENST00000327979p.E900Kc.2698G>ASubstitution - Missense
TDRD12ENSG00000173809ENST00000444215p.P1015Pc.3045G>ASubstitution - coding silent
ARHGAP44ENSG00000006740ENST00000379672p.P676Lc.2027C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.H11241Qc.33723T>ASubstitution - Missense
UMODL1ENSG00000177398ENST00000408989p.I1420Ic.4260C>TSubstitution - coding silent
MRC2ENSG00000011028ENST00000303375p.?c.119-4C>GUnknown
ADAMTS9ENSG00000163638ENST00000498707p.A774Sc.2320G>TSubstitution - Missense
ENST00000318252p.?c.5219-5C>TUnknown
TCEB3BENSG00000206181ENST00000332567p.P541Sc.1621C>TSubstitution - Missense
CORINENSG00000145244ENST00000273857p.R797Rc.2389C>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.V2435Lc.7303G>CSubstitution - Missense
PRKCGENSG00000126583ENST00000263431p.R659Hc.1976G>ASubstitution - Missense
SUGP2ENSG00000064607ENST00000337018p.T844Mc.2531C>TSubstitution - Missense
ASB12ENSG00000198881ENST00000362002p.E238Dc.714G>CSubstitution - Missense
CUL9ENSG00000112659ENST00000252050p.I517Vc.1549A>GSubstitution - Missense
KCNMB3ENSG00000171121ENST00000392685p.N161fs*10c.482delADeletion - Frameshift
NRXN1ENSG00000179915ENST00000404971p.V140Vc.420C>GSubstitution - coding silent
NRXN1ENSG00000179915ENST00000404971p.V140Vc.420C>GSubstitution - coding silent
OR8J3ENSG00000167822ENST00000301529p.L184Mc.550C>ASubstitution - Missense
POU5F1BENSG00000212993ENST00000465342p.G59Gc.177G>TSubstitution - coding silent
MSH5ENSG00000204410ENST00000375742p.L624Fc.1872G>CSubstitution - Missense
ASTN1ENSG00000152092ENST00000367654p.E262Kc.784G>ASubstitution - Missense
ANKRD30AENSG00000148513ENST00000602533p.I1082Tc.3245T>CSubstitution - Missense
NTRK3ENSG00000140538ENST00000360948p.V21Fc.61G>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.H179Rc.536A>GSubstitution - Missense
OR52E8ENSG00000183269ENST00000537935p.I179Nc.536T>ASubstitution - Missense
PSMB5ENSG00000100804ENST00000493471p.H69Rc.206A>GSubstitution - Missense
E2F7ENSG00000165891ENST00000322886p.N672Dc.2014A>GSubstitution - Missense
PYHIN1ENSG00000163564ENST00000392254p.M218Ic.654G>TSubstitution - Missense
CSENSG00000062485ENST00000351328p.T255Mc.764C>TSubstitution - Missense
MIIPENSG00000116691ENST00000235332p.G107Sc.319G>ASubstitution - Missense
JUNENSG00000177606ENST00000371222p.S17Wc.50C>GSubstitution - Missense
SYT4ENSG00000132872ENST00000255224p.V359Fc.1075G>TSubstitution - Missense
ENST00000532796p.V402Vc.1206G>ASubstitution - coding silent
SPIDRENSG00000164808ENST00000297423p.D728Yc.2182G>TSubstitution - Missense
C4orf33ENSG00000151470ENST00000281146p.H82Rc.245A>GSubstitution - Missense
SCN5AENSG00000183873ENST00000333535p.D1275Nc.3823G>ASubstitution - Missense
CDH19ENSG00000071991ENST00000262150p.Y188Cc.563A>GSubstitution - Missense
ENST00000357909p.D409Dc.1227C>TSubstitution - coding silent
UROC1ENSG00000159650ENST00000290868p.F398Fc.1194C>TSubstitution - coding silent
COL4A4ENSG00000081052ENST00000396625p.G891Sc.2671G>ASubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.V3459Vc.10377G>ASubstitution - coding silent
TSPYL4ENSG00000187189ENST00000420283p.G60Rc.178G>CSubstitution - Missense
SOGA2ENSG00000168502ENST00000359865p.S1392Fc.4175C>TSubstitution - Missense
TNRC18ENSG00000182095ENST00000430969p.L1802Pc.5405T>CSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.A159Ac.477C>TSubstitution - coding silent
CCL7ENSG00000108688ENST00000378569p.L90Lc.270G>TSubstitution - coding silent
TECRENSG00000099797ENST00000215567p.C165Cc.495C>TSubstitution - coding silent
MAN2B2ENSG00000013288ENST00000285599p.L335Fc.1003C>TSubstitution - Missense
IGLL5ENSG00000254709ENST00000526893p.E185Kc.553G>ASubstitution - Missense
STRNENSG00000115808ENST00000263918p.?c.659+1G>AUnknown
SCN3AENSG00000153253ENST00000283254p.R1897Hc.5690G>ASubstitution - Missense
ART3ENSG00000156219ENST00000355810p.G261Ac.782G>CSubstitution - Missense
NRASENSG00000213281ENST00000369535p.Q61Rc.182A>GSubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.G1961Sc.5881G>ASubstitution - Missense
FLT3ENSG00000122025ENST00000241453p.S446Lc.1337C>TSubstitution - Missense
MTL5ENSG00000132749ENST00000255087p.T168Ac.502A>GSubstitution - Missense
OR4N2ENSG00000176294ENST00000315947p.F265Fc.795C>TSubstitution - coding silent
ATG16L2ENSG00000168010ENST00000321297p.V64Vc.192C>TSubstitution - coding silent
STRAPENSG00000023734ENST00000419869p.T48fs*13c.137_138insAGATInsertion - Frameshift
GOLGA3ENSG00000090615ENST00000456883p.A1022Tc.3064G>ASubstitution - Missense
DYNC2H1ENSG00000187240ENST00000398093p.L1013Lc.3039G>ASubstitution - coding silent
CIITAENSG00000179583ENST00000324288p.G10Wc.28G>TSubstitution - Missense
DNALI1ENSG00000163879ENST00000296218p.W107*c.321G>ASubstitution - Nonsense
TNRENSG00000116147ENST00000367674p.I1257Lc.3769A>CSubstitution - Missense
LILRB4ENSG00000186818ENST00000391736p.E179Kc.535G>ASubstitution - Missense
ZNF773ENSG00000152439ENST00000282292p.R211Ic.632G>TSubstitution - Missense
ZNF518BENSG00000178163ENST00000326756p.G732Rc.2194G>CSubstitution - Missense
ARL6ENSG00000113966ENST00000493990p.N27Hc.79A>CSubstitution - Missense
COL20A1ENSG00000101203ENST00000326996p.N255fs*66c.762_763insGInsertion - Frameshift
TRHENSG00000170893ENST00000302649p.E175Ec.525G>ASubstitution - coding silent
ARHGAP28ENSG00000088756ENST00000400091p.?c.123-10C>GUnknown
MTAPENSG00000099810ENST00000380172p.?c.121-10T>CUnknown
GOLIM4ENSG00000173905ENST00000470487p.E311Kc.931G>ASubstitution - Missense
DHX40ENSG00000108406ENST00000251241p.D249Hc.745G>CSubstitution - Missense
ZBBXENSG00000169064ENST00000455345p.T721Nc.2162C>ASubstitution - Missense
RAD50ENSG00000113522ENST00000265335p.L642Vc.1924T>GSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.V3459Vc.10377G>ASubstitution - coding silent
NM_001182.2p.?c.1331+4C>AUnknown
CACNA1IENSG00000100346ENST00000402142p.G498Rc.1492G>ASubstitution - Missense
ATCAYENSG00000167654ENST00000450849p.L51Pc.152T>CSubstitution - Missense
C5orf54ENSG00000221886ENST00000408953p.H383Yc.1147C>TSubstitution - Missense
HSPA9ENSG00000113013ENST00000297185p.E374Kc.1120G>ASubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.S803Rc.2407A>CSubstitution - Missense
ZMYND8ENSG00000101040ENST00000536340p.Y94Fc.281A>TSubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.L1891Lc.5673C>TSubstitution - coding silent
ENST00000458043_v65p.H1659Lc.4976A>TSubstitution - Missense
TARS2ENSG00000143374ENST00000369064p.?c.67-8C>AUnknown
ENST00000369053p.?c.67-8C>AUnknown
TRPC4ENSG00000133107ENST00000379705p.L269Pc.806T>CSubstitution - Missense
AGO4ENSG00000134698ENST00000373210p.A338Pc.1012G>CSubstitution - Missense
SNRNP40ENSG00000060688ENST00000373720p.I2Vc.4A>GSubstitution - Missense
OR2T8ENSG00000177462ENST00000319968p.D50Yc.148G>TSubstitution - Missense
MAGI3ENSG00000081026ENST00000369615p.L295Lc.885G>ASubstitution - coding silent
DNAJC1ENSG00000136770ENST00000376980p.?c.1148-4C>GUnknown
TRIM29ENSG00000137699ENST00000341846p.E233Kc.697G>ASubstitution - Missense
FBXO18ENSG00000134452ENST00000379999p.T750Tc.2250G>ASubstitution - coding silent
PCDH15ENSG00000150275ENST00000414778p.G73Gc.219A>GSubstitution - coding silent
FAM208BENSG00000108021ENST00000328090p.N185Tc.554A>CSubstitution - Missense
ABCA4ENSG00000198691ENST00000370225p.?c.1760+2T>GUnknown
KCNK13ENSG00000152315ENST00000282146p.T404Sc.1211C>GSubstitution - Missense
ERCC6L2ENSG00000182150ENST00000288985p.P8Tc.22C>ASubstitution - Missense
NM_000828.2p.T114Tc.342C>ASubstitution - coding silent
IGSF1ENSG00000147255ENST00000361420p.E870Ac.2609A>CSubstitution - Missense
MOSENSG00000172680ENST00000311923p.Q311Kc.931C>ASubstitution - Missense
CDKAL1ENSG00000145996ENST00000378610p.R41Rc.123A>TSubstitution - coding silent
SALL1ENSG00000103449ENST00000251020p.S372Tc.1114T>ASubstitution - Missense
MAST1ENSG00000105613ENST00000251472p.S346Tc.1037G>CSubstitution - Missense
ANO7ENSG00000146205ENST00000402430p.P753Pc.2259G>CSubstitution - coding silent
TMEM131ENSG00000075568ENST00000186436p.T1025Kc.3074C>ASubstitution - Missense
SULF1ENSG00000137573ENST00000260128p.R486fs*40c.1455delCDeletion - Frameshift
TMEM185AENSG00000155984ENST00000316916p.C130Cc.390C>TSubstitution - coding silent
ATCAYENSG00000167654ENST00000301260p.L51Pc.152T>CSubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.Q5293Ec.15877C>GSubstitution - Missense
RAD51DENSG00000185379ENST00000345365p.?c.739-7G>TUnknown
FAM129CENSG00000167483ENST00000335393p.V597Vc.1791A>GSubstitution - coding silent
PKD1ENSG00000008710ENST00000262304p.P2253Pc.6759C>ASubstitution - coding silent
OR4M2ENSG00000182974ENST00000332663p.L214Mc.640C>ASubstitution - Missense
YBX1ENSG00000065978ENST00000436427p.P300Sc.898C>TSubstitution - Missense
NBEAENSG00000172915ENST00000400445p.D2873Dc.8619C>TSubstitution - coding silent
LRRC27ENSG00000148814ENST00000368610p.A396Tc.1186G>ASubstitution - Missense
COBLENSG00000106078ENST00000395542p.G847Gc.2541G>ASubstitution - coding silent
VGLL4ENSG00000144560ENST00000404339p.H287Hc.861C>TSubstitution - coding silent
RBMS2ENSG00000076067ENST00000262031p.L214Vc.640C>GSubstitution - Missense
XPNPEP2ENSG00000122121ENST00000371106p.G525Dc.1574G>ASubstitution - Missense
NADKENSG00000008130ENST00000341991p.E445delEc.1334_1336delAGGDeletion - In frame
RPGRIP1ENSG00000092200ENST00000400017p.Y480Yc.1440T>CSubstitution - coding silent
RASGRF1ENSG00000058335ENST00000419573p.I763Vc.2287A>GSubstitution - Missense
XM_371254.3p.D1108Dc.3324T>CSubstitution - coding silent
ARHGEF10LENSG00000074964ENST00000361221p.E328Dc.984A>TSubstitution - Missense
PADI4ENSG00000159339ENST00000375448p.?c.1630-8T>GUnknown
MUC16ENSG00000181143ENST00000397910p.T2564Sc.7691C>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.T2564Sc.7691C>GSubstitution - Missense
NOC2LENSG00000188976ENST00000327044p.A47Sc.139G>TSubstitution - Missense
GRIA3ENSG00000125675ENST00000371256p.T114Tc.342C>ASubstitution - coding silent
ZSCAN5BENSG00000197213ENST00000358992p.G19Gc.57G>TSubstitution - coding silent
NEK10ENSG00000163491ENST00000429845p.K99Nc.297A>CSubstitution - Missense
TMEM186ENSG00000184857ENST00000333050p.R6*c.16C>TSubstitution - Nonsense
ALS2CR11ENSG00000155754ENST00000286195p.G19Ec.56G>ASubstitution - Missense
SLC11A1ENSG00000018280ENST00000233202p.L430Lc.1288C>TSubstitution - coding silent
TRIM59ENSG00000213186ENST00000309784p.I341Lc.1021A>TSubstitution - Missense
VGLL4ENSG00000144560ENST00000430365p.H288Hc.864C>TSubstitution - coding silent
KIAA0556ENSG00000047578ENST00000261588p.D1166Nc.3496G>ASubstitution - Missense
DDX31ENSG00000125485ENST00000372159p.P822Lc.2465C>TSubstitution - Missense
CEP85LENSG00000111860ENST00000368488p.Q424Qc.1272A>GSubstitution - coding silent
FAM187AENSG00000214447ENST00000331733p.A353Tc.1057G>ASubstitution - Missense
ANGPTL2ENSG00000136859ENST00000373425p.A152Ac.456G>ASubstitution - coding silent
KIAA0947ENSG00000164151ENST00000296564p.S1844Tc.5531G>CSubstitution - Missense
VWA7ENSG00000204396ENST00000375688p.A150Vc.449C>TSubstitution - Missense
C9orf131ENSG00000174038ENST00000421362p.P295Pc.885C>ASubstitution - coding silent
PANX3ENSG00000154143ENST00000284288p.Y226*c.678C>ASubstitution - Nonsense
ENST00000349637p.P1802Tc.5404C>ASubstitution - Missense
ANKRD30AENSG00000148513ENST00000361713p.I1082Tc.3245T>CSubstitution - Missense
TDRD1ENSG00000095627ENST00000251864p.Q461Kc.1381C>ASubstitution - Missense
P2RX4ENSG00000135124ENST00000337233p.Y366fs*7c.1093_1094delCTDeletion - Frameshift
ATG2AENSG00000110046ENST00000377264p.D594Dc.1782C>TSubstitution - coding silent
CD48ENSG00000117091ENST00000368046p.E224fs*>18c.669_676delAGAATGGADeletion - Frameshift
UFM1ENSG00000120686ENST00000379641p.G82Gc.246A>CSubstitution - coding silent
ATP8A1ENSG00000124406ENST00000264449p.I757Vc.2269A>GSubstitution - Missense
MEPEENSG00000152595ENST00000361056p.L136Lc.408A>GSubstitution - coding silent
KHKENSG00000138030ENST00000260599p.T90Tc.270C>ASubstitution - coding silent
INPP4AENSG00000040933ENST00000074304p.?c.1055-7C>TUnknown
SLC22A1ENSG00000175003ENST00000366963p.L204Fc.610C>TSubstitution - Missense
MAP3K4ENSG00000085511ENST00000392142p.G579Dc.1736G>ASubstitution - Missense
KLHL40ENSG00000157119ENST00000287777p.T118Sc.353C>GSubstitution - Missense
LETM2ENSG00000165046ENST00000297720p.V112Dc.335T>ASubstitution - Missense
NM_003866.1p.E574Kc.1720G>ASubstitution - Missense
DOT1LENSG00000104885ENST00000398665p.P191Pc.573G>ASubstitution - coding silent
ELNENSG00000049540ENST00000252034p.A674Ec.2021C>ASubstitution - Missense
WDPCPENSG00000143951ENST00000272321p.H386Hc.1158C>TSubstitution - coding silent
RBBP7ENSG00000102054ENST00000380087p.A293Ac.879G>ASubstitution - coding silent
CSMD3ENSG00000164796ENST00000297405p.Q3386Qc.10158A>GSubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.G4294Ac.12881G>CSubstitution - Missense
CPEB2ENSG00000137449ENST00000538197p.R735Hc.2204G>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.V951Ic.2851G>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.V911Ic.2731G>ASubstitution - Missense
SERPINB3ENSG00000057149ENST00000283752p.H82Rc.245A>GSubstitution - Missense
ZNF253ENSG00000256771ENST00000355650p.R38Gc.112A>GSubstitution - Missense
ZNF716ENSG00000182111ENST00000420713p.A2Ac.6T>ASubstitution - coding silent
COBLENSG00000106078ENST00000265136p.G765Gc.2295G>ASubstitution - coding silent
CATSPERGENSG00000099338ENST00000312265p.V675fs*37c.2022_2032del11Deletion - Frameshift
UAP1ENSG00000117143ENST00000271469p.Q348Hc.1044G>CSubstitution - Missense
SLC9A1ENSG00000090020ENST00000374086p.G223Gc.669C>GSubstitution - coding silent
DLG2ENSG00000150672ENST00000376104p.E17*c.49G>TSubstitution - Nonsense
PAX4ENSG00000106331ENST00000338516p.A250Vc.749C>TSubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.I1817Ic.5451C>TSubstitution - coding silent
SMC2ENSG00000136824ENST00000303219p.H379Hc.1137C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000341594p.A3951Tc.11851G>ASubstitution - Missense
PRMT5ENSG00000100462ENST00000324366p.?c.230-10G>AUnknown
GOLGA3ENSG00000090615ENST00000545875p.A1022Tc.3064G>ASubstitution - Missense
WNK1ENSG00000060237ENST00000537687p.A70Ac.210G>CSubstitution - coding silent
PLCE1ENSG00000138193ENST00000260766p.?c.4506+10C>TUnknown
COPAENSG00000122218ENST00000368069p.K834Qc.2500A>CSubstitution - Missense
DDI1ENSG00000170967ENST00000302259p.E189Kc.565G>ASubstitution - Missense
ZFYVE26ENSG00000072121ENST00000347230p.E459Kc.1375G>ASubstitution - Missense
WDFY4ENSG00000128815ENST00000360890p.A609Sc.1825G>TSubstitution - Missense
TCHHL1ENSG00000182898ENST00000368806p.D528Hc.1582G>CSubstitution - Missense
ATXN3ENSG00000066427ENST00000393287p.Q305_G306insQQQQQc.915_916ins15Insertion - In frame
VPS18ENSG00000104142ENST00000220509p.G243Sc.727G>ASubstitution - Missense
ENST00000343901_v65p.T252Ac.754A>GSubstitution - Missense
AP4E1ENSG00000081014ENST00000261842p.I885Nc.2654T>ASubstitution - Missense
IGFN1ENSG00000163395ENST00000335211p.T3362Tc.10086G>ASubstitution - coding silent
OR2G2ENSG00000177489ENST00000320065p.E201Gc.602A>GSubstitution - Missense
ARHGEF10LENSG00000074964ENST00000375408p.E106Dc.318A>TSubstitution - Missense
ENST00000429478p.G78Rc.232G>CSubstitution - Missense
GRK1ENSG00000185974ENST00000335678p.Q108Rc.323A>GSubstitution - Missense
FAM209BENSG00000213714ENST00000371325p.E167*c.499G>TSubstitution - Nonsense
POLR3KENSG00000161980ENST00000293860p.T92Ic.275C>TSubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.S1046fs*2c.3129_3130insAInsertion - Frameshift
TTNENSG00000155657ENST00000342992p.L20194Pc.60581T>CSubstitution - Missense
NCANENSG00000130287ENST00000252575p.A590Ac.1770C>TSubstitution - coding silent
SP100ENSG00000067066ENST00000340126p.G203Ec.608G>ASubstitution - Missense
ZNF732ENSG00000186777ENST00000419098p.N350Yc.1048A>TSubstitution - Missense
ENST00000409686p.L418Lc.1254G>CSubstitution - coding silent
BAI3ENSG00000135298ENST00000370598p.W300Cc.900G>TSubstitution - Missense
FAM198AENSG00000144649ENST00000430121p.D141Nc.421G>ASubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.S314Tc.941G>CSubstitution - Missense
ENST00000316490_v65p.N2888Sc.8663A>GSubstitution - Missense
SLC35A1ENSG00000164414ENST00000369552p.S309Fc.926C>TSubstitution - Missense
LRFN3ENSG00000126243ENST00000246529p.A264Ac.792G>ASubstitution - coding silent
POMT1ENSG00000130714ENST00000372228p.M118Ic.354G>ASubstitution - Missense
KLHL5ENSG00000109790ENST00000359687p.A17Sc.49G>TSubstitution - Missense
RPGRIP1ENSG00000092200ENST00000206660p.Y864Yc.2592T>CSubstitution - coding silent
NLRP7ENSG00000167634ENST00000446217p.E631Ac.1892A>CSubstitution - Missense
USH2AENSG00000042781ENST00000366943p.S1630Fc.4889C>TSubstitution - Missense
COPB1ENSG00000129083ENST00000249923p.V489Vc.1467A>GSubstitution - coding silent
INSCENSG00000188487ENST00000379554p.A349Ac.1047C>TSubstitution - coding silent
GOLGA8MENSG00000188626ENST00000563027p.S553Fc.1658C>TSubstitution - Missense
SLC18A2ENSG00000165646ENST00000298472p.G441Rc.1321G>CSubstitution - Missense
RNASE1ENSG00000129538ENST00000397967p.V71Mc.211G>ASubstitution - Missense
HS3ST6ENSG00000162040ENST00000443547p.R130Gc.388C>GSubstitution - Missense
FNDC7ENSG00000143107ENST00000271311p.T14Nc.41C>ASubstitution - Missense
MAP3K9ENSG00000006432ENST00000555993p.N1014Hc.3040A>CSubstitution - Missense
ENST00000426033p.Q2002*c.6004C>TSubstitution - Nonsense
INO80ENSG00000128908ENST00000361937p.L702Sc.2105T>CSubstitution - Missense
C5orf42ENSG00000197603ENST00000274258p.D1788Ec.5364C>ASubstitution - Missense
C5orf42ENSG00000197603ENST00000274258p.S1527Sc.4581G>ASubstitution - coding silent
TTC7BENSG00000165914ENST00000328459p.A696Ac.2088A>GSubstitution - coding silent
C11orf82ENSG00000165490ENST00000430323p.H935Hc.2805T>CSubstitution - coding silent
ENST00000359590p.L411Pc.1232T>CSubstitution - Missense
TRPM2ENSG00000142185ENST00000397928p.R302Rc.906G>ASubstitution - coding silent
NM_002200.3p.D58Dc.174C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.M30651Tc.91952T>CSubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.I3116Tc.9347T>CSubstitution - Missense
TADA3ENSG00000171148ENST00000301964p.L20Mc.58C>ASubstitution - Missense
ZNF716ENSG00000182111ENST00000420713p.G442Rc.1324G>ASubstitution - Missense
UROC1ENSG00000159650ENST00000383579p.F458Fc.1374C>TSubstitution - coding silent
SPINK5ENSG00000133710ENST00000359874p.T214Ac.640A>GSubstitution - Missense
PRUNE2ENSG00000106772ENST00000376718p.L2203Lc.6609A>GSubstitution - coding silent
ENST00000414523p.N322Yc.964A>TSubstitution - Missense
EIF3GENSG00000130811ENST00000253108p.N238Nc.714C>TSubstitution - coding silent
ANKRD12ENSG00000101745ENST00000262126p.E1717Vc.5150A>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000514591p.P1328Hc.3983C>ASubstitution - Missense
SHKBP1ENSG00000160410ENST00000291842p.?c.1589+10G>CUnknown
ENST00000288841p.L857Pc.2570T>CSubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.V53Ic.157G>ASubstitution - Missense
DENND1AENSG00000119522ENST00000373618p.?c.1132-7A>GUnknown
DVL3ENSG00000161202ENST00000313143p.G291Ec.872G>ASubstitution - Missense
ETV5ENSG00000244405ENST00000306376p.?c.363-1G>AUnknown
ZNF880ENSG00000221923ENST00000344085p.M36Tc.107T>CSubstitution - Missense
ABCA12ENSG00000144452ENST00000389661p.I1998fs*17c.5991delGDeletion - Frameshift
GSTM5ENSG00000134201ENST00000369812p.G63Gc.189G>TSubstitution - coding silent
NRXN1ENSG00000179915ENST00000404971p.T819Tc.2457G>ASubstitution - coding silent
ECHDC2ENSG00000121310ENST00000541281p.L50Lc.150G>CSubstitution - coding silent
OR10T2ENSG00000186306ENST00000334438p.V304Fc.910G>TSubstitution - Missense
LRRC71ENSG00000160838ENST00000337428p.A357Vc.1070C>TSubstitution - Missense
ANKRD30AENSG00000148513ENST00000602533p.E266Gc.797A>GSubstitution - Missense
RIN3ENSG00000100599ENST00000216487p.V851Vc.2553G>ASubstitution - coding silent
CYP4A22ENSG00000162365ENST00000371891p.L245Mc.733C>ASubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.V352Mc.1054G>ASubstitution - Missense
PIK3C2BENSG00000133056ENST00000367184p.?c.369-3C>TUnknown
WDR81ENSG00000167716ENST00000409644p.E204Kc.610G>ASubstitution - Missense
WDR81ENSG00000167716ENST00000409644p.M271Vc.811A>GSubstitution - Missense
BCORL1ENSG00000085185ENST00000218147p.G892Gc.2676G>CSubstitution - coding silent
CRHR1ENSG00000120088ENST00000314537p.S160Sc.480C>TSubstitution - coding silent
CPS1ENSG00000021826ENST00000233072p.A735Ac.2205A>GSubstitution - coding silent
KLHL5ENSG00000109790ENST00000504108p.A17Sc.49G>TSubstitution - Missense
UMODL1ENSG00000177398ENST00000400424p.I1220Ic.3660C>TSubstitution - coding silent
SLX4ENSG00000188827ENST00000294008p.R442Kc.1325G>ASubstitution - Missense
ENST00000570743p.G645Gc.1935C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.L13822Pc.41465T>CSubstitution - Missense
ASAH1ENSG00000104763ENST00000381733p.T289Sc.866C>GSubstitution - Missense
RETSATENSG00000042445ENST00000295802p.T466Tc.1398T>CSubstitution - coding silent
TPRKBENSG00000144034ENST00000272424p.?c.265-8T>CUnknown
SCN10AENSG00000185313ENST00000449082p.N909Sc.2726A>GSubstitution - Missense
FBXO25ENSG00000147364ENST00000276326p.V159_H163>Dc.476_487del12Complex - deletion inframe
ENST00000405167p.G2924Vc.8771G>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S1800Sc.5400G>ASubstitution - coding silent
KALRNENSG00000160145ENST00000240874p.L314Fc.940C>TSubstitution - Missense
MROH2AENSG00000185038ENST00000389758p.K1068Rc.3203A>GSubstitution - Missense
ENST00000342345p.L201Lc.603G>ASubstitution - coding silent
PLCH1ENSG00000114805ENST00000447496p.D132Nc.394G>ASubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.I1544Ic.4632T>CSubstitution - coding silent
DENND1AENSG00000119522ENST00000373624p.?c.1228-7A>GUnknown
FAM198BENSG00000164125ENST00000296530p.P193Sc.577C>TSubstitution - Missense
IP6K3ENSG00000161896ENST00000451316p.Q286Rc.857A>GSubstitution - Missense
PSG8ENSG00000124467ENST00000404209p.C310Yc.929G>ASubstitution - Missense
E4F1ENSG00000167967ENST00000301727p.R492Hc.1475G>ASubstitution - Missense
PKP4ENSG00000144283ENST00000389759p.S977Yc.2930C>ASubstitution - Missense
TNKS1BP1ENSG00000149115ENST00000358252p.R655Wc.1963C>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000336649p.G498Rc.1492G>ASubstitution - Missense
KRT18ENSG00000111057ENST00000388835p.E208*c.622G>TSubstitution - Nonsense
RERGENSG00000134533ENST00000256953p.L96Lc.288G>ASubstitution - coding silent
INHBEENSG00000139269ENST00000266646p.S183Pc.547T>CSubstitution - Missense
CACNA2D4ENSG00000151062ENST00000382722p.L727Lc.2181G>ASubstitution - coding silent
SU_OBSCN.1p.P5189Lc.15566C>TSubstitution - Missense
SLIT1ENSG00000187122ENST00000266058p.Q706Qc.2118G>ASubstitution - coding silent
SLC39A5ENSG00000139540ENST00000266980p.P287Sc.859C>TSubstitution - Missense
NBEAENSG00000172915ENST00000379922p.D451Dc.1353C>TSubstitution - coding silent
AMY2BENSG00000240038ENST00000361355p.I382Mc.1146T>GSubstitution - Missense
LAMA3ENSG00000053747ENST00000313654p.R568Kc.1703G>ASubstitution - Missense
SPECC1ENSG00000128487ENST00000395527p.S372Cc.1115C>GSubstitution - Missense
ALS2CR11ENSG00000155754ENST00000439140p.G19Ec.56G>ASubstitution - Missense
EPHB6ENSG00000106123ENST00000392957p.V196Ic.586G>ASubstitution - Missense
CCDC42ENSG00000161973ENST00000293845p.M58Vc.172A>GSubstitution - Missense
ADCK5ENSG00000173137ENST00000308860p.Q191Ec.571C>GSubstitution - Missense
CCDC113ENSG00000103021ENST00000219299p.K311Ec.931A>GSubstitution - Missense
TRIM71ENSG00000206557ENST00000383763p.R448Rc.1344G>TSubstitution - coding silent
ULK4ENSG00000168038ENST00000301831p.L1077Fc.3229C>TSubstitution - Missense
ZNF736ENSG00000234444ENST00000355095p.R38Gc.112A>GSubstitution - Missense
ENST00000221482p.P191Pc.573G>ASubstitution - coding silent
RTN4ENSG00000115310ENST00000337526p.T527Ac.1579A>GSubstitution - Missense
RTN4ENSG00000115310ENST00000357376p.T321Ac.961A>GSubstitution - Missense
F8ENSG00000185010ENST00000360256p.N1161Ic.3482A>TSubstitution - Missense
ADAMTS2ENSG00000087116ENST00000251582p.R258Hc.773G>ASubstitution - Missense
CDH6ENSG00000113361ENST00000265071p.K642Kc.1926A>GSubstitution - coding silent
LXNENSG00000079257ENST00000264265p.V199Ic.595G>ASubstitution - Missense
MTMR9ENSG00000104643ENST00000221086p.L225Lc.675C>GSubstitution - coding silent
PRDM1ENSG00000057657ENST00000369096p.K38Nc.114A>CSubstitution - Missense
NM_138737.1p.P854Ac.2560C>GSubstitution - Missense
ZNF486ENSG00000256229ENST00000335117p.?c.31-9G>AUnknown
NM_130388.2p.E229Dc.687G>CSubstitution - Missense
ENST00000576222_v68p.I699Ic.2097C>ASubstitution - coding silent
CSMD1ENSG00000183117ENST00000539096p.?c.4984+9G>TUnknown
VPS8ENSG00000156931ENST00000287546p.H1069Qc.3207T>ASubstitution - Missense
RFX4ENSG00000111783ENST00000229387p.E129Qc.385G>CSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.F2000Lc.5998T>CSubstitution - Missense
KRTAP5-10ENSG00000204572ENST00000376536p.V162fs*>9c.485delTDeletion - Frameshift
ANKLE2ENSG00000176915ENST00000357997p.C203Fc.608G>TSubstitution - Missense
KRTAP5-1ENSG00000205869ENST00000382171p.S256Fc.767C>TSubstitution - Missense
PIH1D2ENSG00000150773ENST00000280350p.V105Fc.313G>TSubstitution - Missense
DYNC2H1ENSG00000187240ENST00000398093p.H1014Nc.3040C>ASubstitution - Missense
KLK6ENSG00000167755ENST00000310157p.S197Pc.589T>CSubstitution - Missense
LILRA1ENSG00000104974ENST00000251372p.C346Yc.1037G>ASubstitution - Missense
INPP4AENSG00000040933ENST00000074304p.?c.1055-7C>TUnknown
MYH13ENSG00000006788ENST00000252172p.G645Gc.1935C>TSubstitution - coding silent
ANKMY1ENSG00000144504ENST00000391987p.R808Rc.2424C>TSubstitution - coding silent
ABCA9ENSG00000154258ENST00000340001p.G346Vc.1037G>TSubstitution - Missense
EFNA5ENSG00000184349ENST00000333274p.V69Ic.205G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.G2700Gc.8100T>ASubstitution - coding silent
ZNRF4ENSG00000105428ENST00000222033p.Q321Qc.963A>GSubstitution - coding silent
GLI2ENSG00000074047ENST00000361492p.Q302*c.904C>TSubstitution - Nonsense
KLHL4ENSG00000102271ENST00000373119p.V161Ac.482T>CSubstitution - Missense
MTMR8ENSG00000102043ENST00000453546p.E613Dc.1839G>CSubstitution - Missense
LAMP3ENSG00000078081ENST00000265598p.T85Ic.254C>TSubstitution - Missense
PPWD1ENSG00000113593ENST00000261308p.V625Fc.1873G>TSubstitution - Missense
TMEM52BENSG00000165685ENST00000381923p.S99Rc.297C>ASubstitution - Missense
NACAENSG00000196531ENST00000454682p.I1716Vc.5146A>GSubstitution - Missense
MIB2ENSG00000197530ENST00000355826p.?c.895+1G>AUnknown
RAPSNENSG00000165917ENST00000298854p.A153Sc.457G>TSubstitution - Missense
NUP98ENSG00000110713ENST00000324932p.?c.1847+3A>GUnknown
MUC5BENSG00000117983ENST00000529681p.P1799Tc.5395C>ASubstitution - Missense
LGI1ENSG00000108231ENST00000371418p.G355Sc.1063G>ASubstitution - Missense
NBEAENSG00000172915ENST00000310336p.D2873Dc.8619C>TSubstitution - coding silent
KIF21AENSG00000139116ENST00000361961p.P1435Sc.4303C>TSubstitution - Missense
LUMENSG00000139329ENST00000266718p.R74Gc.220A>GSubstitution - Missense
PPM1JENSG00000155367ENST00000309276p.D358Ec.1074T>GSubstitution - Missense
NBPF4ENSG00000196427ENST00000415641p.H492Qc.1476C>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000458638p.G68Gc.204A>GSubstitution - coding silent
NADKENSG00000008130ENST00000344463p.P197Pc.591C>TSubstitution - coding silent
COA7ENSG00000162377ENST00000371538p.E45Ec.135A>GSubstitution - coding silent
PPFIA4ENSG00000143847ENST00000272198p.R621Rc.1861C>ASubstitution - coding silent
SEC16BENSG00000120341ENST00000308284p.E90Qc.268G>CSubstitution - Missense
TENM1ENSG00000009694ENST00000371130p.I1810Ic.5430C>TSubstitution - coding silent
TM4SF5ENSG00000142484ENST00000270560p.?c.177+3G>AUnknown
SAMD11ENSG00000187634ENST00000342066p.S100Fc.299C>TSubstitution - Missense
ZNF473ENSG00000142528ENST00000391821p.R408Cc.1222C>TSubstitution - Missense
KANSL3ENSG00000114982ENST00000431828p.H3Pc.8A>CSubstitution - Missense
SETD5ENSG00000168137ENST00000402198p.L67Lc.199C>TSubstitution - coding silent
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
ZRSR2ENSG00000169249ENST00000307771p.T207Tc.621G>ASubstitution - coding silent
OR13F1ENSG00000186881ENST00000334726p.I174Vc.520A>GSubstitution - Missense
DSTENSG00000151914ENST00000370769p.V7505Vc.22515C>GSubstitution - coding silent
FAM198AENSG00000144649ENST00000273146p.D67Nc.199G>ASubstitution - Missense
MKNK2ENSG00000099875ENST00000309340p.T72Tc.216C>GSubstitution - coding silent
DZIP1LENSG00000158163ENST00000327532p.S656Lc.1967C>TSubstitution - Missense
SNRNP48ENSG00000168566ENST00000342415p.C292Yc.875G>ASubstitution - Missense
CCDC39ENSG00000145075ENST00000442201p.V934Dc.2801T>ASubstitution - Missense
EVCENSG00000072840ENST00000264956p.R574Gc.1720C>GSubstitution - Missense
AP3D1ENSG00000065000ENST00000356926p.N537Sc.1610A>GSubstitution - Missense
NM_024114.2p.A192Gc.575C>GSubstitution - Missense
OR51I1ENSG00000167359ENST00000380211p.I35Vc.103A>GSubstitution - Missense
TRAF1ENSG00000056558ENST00000373887p.R10Pc.29G>CSubstitution - Missense
CHRAC1ENSG00000104472ENST00000220913p.?c.147+5delgUnknown
LYSMD4ENSG00000183060ENST00000332728p.S138Sc.414C>TSubstitution - coding silent
ZNF737ENSG00000237440ENST00000427401p.T301fs*4c.901_902insAInsertion - Frameshift
CSPG4ENSG00000173546ENST00000308508p.A426Ac.1278C>TSubstitution - coding silent
AKAP13ENSG00000170776ENST00000361243p.P1708Lc.5123C>TSubstitution - Missense
CCDC65ENSG00000139537ENST00000320516p.H78Yc.232C>TSubstitution - Missense
RPGRIP1ENSG00000092200ENST00000400017p.Y864Yc.2592T>CSubstitution - coding silent
ASTN1ENSG00000152092ENST00000361833p.E262Kc.784G>ASubstitution - Missense
C1QTNF8ENSG00000184471ENST00000328449p.A216Pc.646G>CSubstitution - Missense
SLC9A1ENSG00000090020ENST00000263980p.G223Gc.669C>GSubstitution - coding silent
BAHD1ENSG00000140320ENST00000416165p.K71Rc.212A>GSubstitution - Missense
FRMD6ENSG00000139926ENST00000395718p.R511Hc.1532G>ASubstitution - Missense
GON4LENSG00000116580ENST00000437809p.R2195Hc.6584G>ASubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.V464Mc.1390G>ASubstitution - Missense
LBPENSG00000129988ENST00000217407p.T261Nc.782C>ASubstitution - Missense
KRT27ENSG00000171446ENST00000301656p.Y339Nc.1015T>ASubstitution - Missense
KIAA1239ENSG00000174145ENST00000309447p.V613Lc.1837G>TSubstitution - Missense
KCNQ2ENSG00000075043ENST00000354587p.G668Wc.2002G>TSubstitution - Missense
PRR25ENSG00000167945ENST00000301698p.S320Pc.958T>CSubstitution - Missense
ALS2CR11ENSG00000155754ENST00000450242p.G19Ec.56G>ASubstitution - Missense
NLRP7ENSG00000167634ENST00000328092p.E603Ac.1808A>CSubstitution - Missense
UBA7ENSG00000182179ENST00000333486p.A900Ac.2700C>ASubstitution - coding silent
LYZL4ENSG00000157093ENST00000287748p.K30Rc.89A>GSubstitution - Missense
ENSG00000176593ENST00000313957p.T320Tc.960C>GSubstitution - coding silent
GRB10ENSG00000106070ENST00000398812p.Y16Hc.46T>CSubstitution - Missense
ENSG00000272333ENST00000222270p.P2188Pc.6564C>TSubstitution - coding silent
CATSPERGENSG00000099338ENST00000409235p.V1035fs*37c.3102_3112del11Deletion - Frameshift
ZSWIM6ENSG00000130449ENST00000252744p.P1067Sc.3199C>TSubstitution - Missense
VGLL1ENSG00000102243ENST00000370634p.A111Sc.331G>TSubstitution - Missense
GLT1D1ENSG00000151948ENST00000442111p.V206Fc.616G>TSubstitution - Missense
OR51B2ENSG00000184881ENST00000328813p.R174Hc.521G>ASubstitution - Missense
OR51G2ENSG00000176893ENST00000322013p.E57Dc.171G>CSubstitution - Missense
PODXLENSG00000128567ENST00000541194p.L502Pc.1505T>CSubstitution - Missense
ENST00000319144_v70p.C366Cc.1098C>TSubstitution - coding silent
CCL7ENSG00000108688ENST00000200307p.L100Lc.300G>TSubstitution - coding silent
APBB2ENSG00000163697ENST00000295974p.D378Ec.1134C>ASubstitution - Missense
KLHL1ENSG00000150361ENST00000377844p.F135Fc.405T>CSubstitution - coding silent
TAPBPLENSG00000139192ENST00000266556p.R250Wc.748C>TSubstitution - Missense
IQGAP3ENSG00000183856ENST00000361170p.V731Ic.2191G>ASubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.P1152Pc.3456C>TSubstitution - coding silent
CORO1BENSG00000172725ENST00000341356p.R461Qc.1382G>ASubstitution - Missense
OR52W1ENSG00000175485ENST00000311352p.T113fs*19c.336delGDeletion - Frameshift
MAGI3ENSG00000081026ENST00000307546p.L295Lc.885G>ASubstitution - coding silent
TENM1ENSG00000009694ENST00000371130p.T2245Sc.6734C>GSubstitution - Missense
KCNB1ENSG00000158445ENST00000371741p.G123Cc.367G>TSubstitution - Missense
AQP3ENSG00000165272ENST00000297991p.D132Nc.394G>ASubstitution - Missense
PSMD10ENSG00000101843ENST00000217958p.?c.527+9C>AUnknown
KLHDC8BENSG00000185909ENST00000332780p.V35Vc.105G>CSubstitution - coding silent
KRT39ENSG00000196859ENST00000355612p.W286fs*1c.857_858insAGTGInsertion - Frameshift
COL20A1ENSG00000101203ENST00000358894p.N255fs*66c.762_763insGInsertion - Frameshift
CTU2ENSG00000174177ENST00000453996p.?c.1098-1G>AUnknown
ZNF175ENSG00000105497ENST00000262259p.H263Rc.788A>GSubstitution - Missense
ENST00000544929p.Q13Qc.39A>GSubstitution - coding silent
GPR114ENSG00000159618ENST00000340339p.S217Sc.651T>ASubstitution - coding silent
ENST00000299997p.A3Tc.7G>ASubstitution - Missense
ALKENSG00000171094ENST00000389048p.C928Yc.2783G>ASubstitution - Missense
SU_NEK10p.K99Nc.297A>CSubstitution - Missense
ENST00000265148.1p.E1949Ec.5847A>GSubstitution - coding silent
XPO1ENSG00000082898ENST00000401558p.Q140*c.418C>TSubstitution - Nonsense
SP100ENSG00000067066ENST00000341950p.G203Ec.608G>ASubstitution - Missense
SMC2ENSG00000136824ENST00000286398p.H379Hc.1137C>TSubstitution - coding silent
APOL4ENSG00000100336ENST00000405511p.K127Nc.381A>TSubstitution - Missense
COBLENSG00000106078ENST00000395540p.E229Kc.685G>ASubstitution - Missense
TRIM48ENSG00000150244ENST00000417545p.A208Gc.623C>GSubstitution - Missense
OR51F1ENSG00000188069ENST00000380383p.G274Sc.820G>ASubstitution - Missense
SPTAN1ENSG00000197694ENST00000372739p.L1504Lc.4512G>ASubstitution - coding silent
ADAMTS2ENSG00000087116ENST00000274609p.R258Hc.773G>ASubstitution - Missense
KCNQ2ENSG00000075043ENST00000359689p.G660Wc.1978G>TSubstitution - Missense
GRM4ENSG00000124493ENST00000374181p.D245Dc.735C>TSubstitution - coding silent
NUP133ENSG00000069248ENST00000261396p.I1058Vc.3172A>GSubstitution - Missense
GABRG3ENSG00000182256ENST00000333743p.P40Ac.118C>GSubstitution - Missense
ST14ENSG00000149418ENST00000278742p.F708Fc.2124C>TSubstitution - coding silent
AKAP13ENSG00000170776ENST00000394518p.P1704Lc.5111C>TSubstitution - Missense
ANKRD26ENSG00000107890ENST00000376087p.E533Qc.1597G>CSubstitution - Missense
HAGHENSG00000063854ENST00000397353p.A40Ac.120G>TSubstitution - coding silent
PPAP2BENSG00000162407ENST00000371250p.R221Rc.663A>CSubstitution - coding silent
IGFN1ENSG00000163395ENST00000335211p.T522Tc.1566G>ASubstitution - coding silent
GON4LENSG00000116580ENST00000437809p.P717Lc.2150C>TSubstitution - Missense
PIK3C2BENSG00000133056ENST00000367187p.?c.1035-3C>TUnknown
RASAL2ENSG00000075391ENST00000367649p.E1204*c.3610G>TSubstitution - Nonsense
PENKENSG00000181195ENST00000314922p.G108*c.322G>TSubstitution - Nonsense
NM_003077.2p.?c.276+4A>GUnknown
CSE1LENSG00000124207ENST00000262982p.M920Tc.2759T>CSubstitution - Missense
ZNFX1ENSG00000124201ENST00000371754p.R1139Hc.3416G>ASubstitution - Missense
PDE11AENSG00000128655ENST00000286063p.E548Qc.1642G>CSubstitution - Missense
CCDC42ENSG00000161973ENST00000293845p.I53Fc.157A>TSubstitution - Missense
STAB1ENSG00000010327ENST00000321725p.I2441Vc.7321A>GSubstitution - Missense
APBB2ENSG00000163697ENST00000513140p.D357Ec.1071C>ASubstitution - Missense
ZSCAN5BENSG00000197213ENST00000358992p.G19Gc.57G>TSubstitution - coding silent
ZNF544ENSG00000198131ENST00000269829p.S691fs*2c.2072_2073insGTAGInsertion - Frameshift
USP9XENSG00000124486ENST00000324545p.L104Lc.312T>GSubstitution - coding silent
TMCC1ENSG00000172765ENST00000393238p.Q108Qc.324G>ASubstitution - coding silent
C5orf22ENSG00000082213ENST00000325366p.L57Lc.171C>TSubstitution - coding silent
ARIH2OSENSG00000221883ENST00000408959p.P113Lc.338C>TSubstitution - Missense
KBTBD4ENSG00000123444ENST00000430070p.T410Nc.1229C>ASubstitution - Missense
HEPHENSG00000089472ENST00000519389p.P908Ac.2722C>GSubstitution - Missense
POMT1ENSG00000130714ENST00000354713p.M88Ic.264G>ASubstitution - Missense
MAP4K4ENSG00000071054ENST00000350878p.R1224Lc.3671G>TSubstitution - Missense
ATXN3ENSG00000066427ENST00000429774p.Q298_G299insQQQQQc.862_863ins15Insertion - In frame
IL12RB1ENSG00000096996ENST00000593993p.E639Dc.1917G>CSubstitution - Missense
SLC30A10ENSG00000196660ENST00000366926p.M226Vc.676A>GSubstitution - Missense
ENST00000414315p.H47Rc.140A>GSubstitution - Missense
METTL10ENSG00000203791ENST00000368836p.A15fs*55c.19_20ins11Insertion - Frameshift
C1QBENSG00000173369ENST00000314933p.H173Hc.519C>TSubstitution - coding silent
CELA2AENSG00000142615ENST00000359621p.G204Ec.611G>ASubstitution - Missense
SYNPO2LENSG00000166317ENST00000394810p.E26Kc.76G>ASubstitution - Missense
PTENENSG00000171862ENST00000371953p.E242fs*11c.724_725insGInsertion - Frameshift
FCRLBENSG00000162746ENST00000367948p.V109Lc.325G>CSubstitution - Missense
NLRP3ENSG00000162711ENST00000391828p.V862Ac.2585T>CSubstitution - Missense
PANK4ENSG00000157881ENST00000378466p.T450Tc.1350C>TSubstitution - coding silent
OR2M4ENSG00000171180ENST00000306687p.F195Vc.583T>GSubstitution - Missense
LAMC2ENSG00000058085ENST00000264144p.?c.503+9G>CUnknown
IFT140ENSG00000187535ENST00000426508p.S400Sc.1200C>TSubstitution - coding silent
ASPMENSG00000066279ENST00000367409p.R2372Gc.7114A>GSubstitution - Missense
ZNF410ENSG00000119725ENST00000555044p.G366Vc.1097G>TSubstitution - Missense
TRPC6ENSG00000137672ENST00000344327p.N473Sc.1418A>GSubstitution - Missense
ERCC6ENSG00000225830ENST00000355832p.R612Lc.1835G>TSubstitution - Missense
NADKENSG00000008130ENST00000342348p.P61Pc.183C>TSubstitution - coding silent
YBX1ENSG00000065978ENST00000321358p.P250Lc.749C>TSubstitution - Missense
CYP4Z1ENSG00000186160ENST00000334194p.?c.492+9A>GUnknown
RAPGEFL1ENSG00000108352ENST00000264644p.L331Lc.993G>TSubstitution - coding silent
ENST00000405167p.S3527Sc.10581C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.G2924Vc.8771G>TSubstitution - Missense
INPP4AENSG00000040933ENST00000409540p.?c.1055-7C>TUnknown
ZNF148ENSG00000163848ENST00000360647p.P626Pc.1878G>ASubstitution - coding silent
KALRNENSG00000160145ENST00000360013p.L314Fc.940C>TSubstitution - Missense
F8ENSG00000185010ENST00000360256p.V2242Mc.6724G>ASubstitution - Missense
CDH6ENSG00000113361ENST00000265071p.D188Hc.562G>CSubstitution - Missense
KIAA0825ENSG00000185261ENST00000513200p.R1087Cc.3259C>TSubstitution - Missense
MTMR8ENSG00000102043ENST00000374852p.G571Sc.1711G>ASubstitution - Missense
ZNF716ENSG00000182111ENST00000420713p.G442Rc.1324G>ASubstitution - Missense
KRT9ENSG00000171403ENST00000246662p.T350Tc.1050C>GSubstitution - coding silent
ABCG5ENSG00000138075ENST00000260645p.R61Wc.181C>TSubstitution - Missense
ALDH7A1ENSG00000164904ENST00000447989p.?c.1304+4C>AUnknown
NOTCH3ENSG00000074181ENST00000263388p.E1972Ec.5916G>ASubstitution - coding silent
C20orf26ENSG00000089101ENST00000245957p.Q1005*c.3013C>TSubstitution - Nonsense
LTBRENSG00000111321ENST00000228918p.?c.96+10G>AUnknown
SU_OBSCN.1p.G8013Cc.24037G>TSubstitution - Missense
ANKRD52ENSG00000139645ENST00000267116p.A1002Ac.3006C>TSubstitution - coding silent
ANKRD30AENSG00000148513ENST00000361713p.L1301Pc.3902T>CSubstitution - Missense
KLF12ENSG00000118922ENST00000377669p.N247Sc.740A>GSubstitution - Missense
CCDC27ENSG00000162592ENST00000294600p.T130Tc.390G>ASubstitution - coding silent
PROSER2ENSG00000148426ENST00000277570p.T167Pc.499A>CSubstitution - Missense
POLGENSG00000140521ENST00000268124p.A703Ac.2109C>TSubstitution - coding silent
ENST00000271311_v71p.T248Nc.743C>ASubstitution - Missense
ADAM15ENSG00000143537ENST00000356955p.T602Sc.1804A>TSubstitution - Missense
STX2ENSG00000111450ENST00000392373p.D161Dc.483C>TSubstitution - coding silent
INSRENSG00000171105ENST00000302850p.D949Yc.2845G>TSubstitution - Missense
TLR7ENSG00000196664ENST00000380659p.N259Nc.777T>CSubstitution - coding silent
INADLENSG00000132849ENST00000371158p.G1248Rc.3742G>ASubstitution - Missense
MYSM1ENSG00000162601ENST00000472487p.?c.1662-4T>CUnknown
ANKRD13BENSG00000198720ENST00000394859p.?c.904+5T>CUnknown
C3orf49ENSG00000163632ENST00000295896p.P199Lc.596C>TSubstitution - Missense
SYT3ENSG00000213023ENST00000338916p.S313Sc.939G>ASubstitution - coding silent
ZMAT1ENSG00000166432ENST00000372782p.?c.122-1G>TUnknown
NM_003319p.G15631Gc.46893C>TSubstitution - coding silent
DLL1ENSG00000198719ENST00000366756p.Y350Cc.1049A>GSubstitution - Missense
CAND2ENSG00000144712ENST00000456430p.?c.69-3C>GUnknown
SUN1ENSG00000164828ENST00000389574p.A383Ac.1149G>ASubstitution - coding silent
IQCEENSG00000106012ENST00000402050p.R168Gc.502A>GSubstitution - Missense
ENST00000341648p.K249Kc.747G>ASubstitution - coding silent
CCDC74AENSG00000163040ENST00000467992p.M1Kc.2T>ASubstitution - Missense
PCDHGA12ENSG00000253159ENST00000252085p.C384Sc.1151G>CSubstitution - Missense
SLC35B2ENSG00000157593ENST00000393812p.A349Ac.1047A>GSubstitution - coding silent
TTPALENSG00000124120ENST00000262605p.Y166Yc.498C>TSubstitution - coding silent
MTSS1LENSG00000132613ENST00000338779p.R110Pc.329G>CSubstitution - Missense
NUP98ENSG00000110713ENST00000397007p.?c.1898+3A>GUnknown
BEND7ENSG00000165626ENST00000396900p.F483Sc.1448T>CSubstitution - Missense
ZNF737ENSG00000237440ENST00000427401p.T273fs*4c.818_900del83Deletion - Frameshift
NM_004667.3p.A3219Vc.9656C>TSubstitution - Missense
GLT1D1ENSG00000151948ENST00000281703p.V126Fc.376G>TSubstitution - Missense
ULK1ENSG00000177169ENST00000321867p.?c.1097-9C>TUnknown
AMICA1ENSG00000160593ENST00000356289p.E142Kc.424G>ASubstitution - Missense
GFERENSG00000127554ENST00000248114p.D201Nc.601G>ASubstitution - Missense
TLE3ENSG00000140332ENST00000317509p.V549Vc.1647G>ASubstitution - coding silent
PLEKHG3ENSG00000126822ENST00000247226p.P725Pc.2175G>ASubstitution - coding silent
ECHDC2ENSG00000121310ENST00000358358p.L96Lc.288G>CSubstitution - coding silent
ASH1LENSG00000116539ENST00000392403p.S1564Tc.4690T>ASubstitution - Missense
KIR3DX1ENSG00000104970ENST00000335056p.N77Kc.231C>ASubstitution - Missense
USP26ENSG00000134588ENST00000370832p.L345Lc.1033C>TSubstitution - coding silent
ELP2ENSG00000134759ENST00000358232p.D71Nc.211G>ASubstitution - Missense
ELP2ENSG00000134759ENST00000350494p.D71Nc.211G>ASubstitution - Missense
BPIFB1ENSG00000125999ENST00000253354p.P33Sc.97C>TSubstitution - Missense
PPP4R1LENSG00000124224ENST00000334187p.N316Nc.948T>CSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.M24279Tc.72836T>CSubstitution - Missense
KCNMB3ENSG00000171121ENST00000314235p.N165fs*10c.494delADeletion - Frameshift
NOTCH3ENSG00000074181ENST00000263388p.E1972Ec.5916G>ASubstitution - coding silent
HEATR5AENSG00000129493ENST00000389961p.L578Sc.1733T>CSubstitution - Missense
OR52A5ENSG00000171944ENST00000307388p.L80Rc.239T>GSubstitution - Missense
KHDRBS3ENSG00000131773ENST00000355849p.R237Rc.711G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.H179Rc.536A>GSubstitution - Missense
ETV5ENSG00000244405ENST00000306376p.?c.363-1G>AUnknown
SYNE1ENSG00000131018ENST00000448038p.A4015Tc.12043G>ASubstitution - Missense
INPP4AENSG00000040933ENST00000545415p.?c.1055-7C>TUnknown
HEATR5AENSG00000129493ENST00000404677p.L584Sc.1751T>CSubstitution - Missense
CPNE6ENSG00000100884ENST00000537691p.K329Kc.987G>ASubstitution - coding silent
VWA5B1ENSG00000158816ENST00000289825p.G183Gc.549C>TSubstitution - coding silent
DMTF1ENSG00000135164ENST00000394703p.R381Qc.1142G>ASubstitution - Missense
GP2ENSG00000169347ENST00000381362p.G389Gc.1167G>TSubstitution - coding silent
TCFL5ENSG00000101190ENST00000335351p.A247Vc.740C>TSubstitution - Missense
EPPK1ENSG00000227184ENST00000525985p.A267Ac.801C>TSubstitution - coding silent
KBTBD4ENSG00000123444ENST00000526005p.T394Nc.1181C>ASubstitution - Missense
ALDH18A1ENSG00000059573ENST00000371224p.I73Ic.219C>TSubstitution - coding silent
RFX4ENSG00000111783ENST00000392842p.E223Qc.667G>CSubstitution - Missense
NM_018979p.A70Ac.210G>CSubstitution - coding silent
DCHS1ENSG00000166341ENST00000299441p.N2476Yc.7426A>TSubstitution - Missense
ABHD17CENSG00000136379ENST00000258884p.L310Rc.929T>GSubstitution - Missense
CASZ1ENSG00000130940ENST00000377022p.L1149Lc.3445C>TSubstitution - coding silent
MMP13ENSG00000137745ENST00000260302p.Y46Yc.138C>TSubstitution - coding silent
PTGER4ENSG00000171522ENST00000302472p.D173Nc.517G>ASubstitution - Missense
CCDC17ENSG00000159588ENST00000343901p.T252Ac.754A>GSubstitution - Missense
GRM5ENSG00000168959ENST00000418177p.R26Rc.76A>CSubstitution - coding silent
URI1ENSG00000105176ENST00000542441p.P495Sc.1483C>TSubstitution - Missense
CERS4ENSG00000090661ENST00000251363p.N81Nc.243C>TSubstitution - coding silent
SALL1ENSG00000103449ENST00000251020p.G118Vc.353G>TSubstitution - Missense
PDE9AENSG00000160191ENST00000291539p.A512Sc.1534G>TSubstitution - Missense
C9orf131ENSG00000174038ENST00000312292p.P343Pc.1029C>ASubstitution - coding silent
ZNF841ENSG00000197608ENST00000389534p.?c.15+2T>CUnknown
TMEM131ENSG00000075568ENST00000186436p.T1138Kc.3413C>ASubstitution - Missense
NM_003319p.L13697Pc.41090T>CSubstitution - Missense
TSSK2ENSG00000206203ENST00000399635p.P277Pc.831C>GSubstitution - coding silent
ZSCAN5DENSG00000267908ENST00000600684p.A287Tc.859G>ASubstitution - Missense
NM_006904p.?c.9922+3A>GUnknown
ENST00000405167p.H2930Yc.8788C>TSubstitution - Missense
LIMK2ENSG00000182541ENST00000331728p.I435Ic.1305C>TSubstitution - coding silent
CCDC80ENSG00000091986ENST00000206423p.V371Dc.1112T>ASubstitution - Missense
NM_053025p.?c.4322-8C>TUnknown
TMCC1ENSG00000172765ENST00000393238p.Q108Qc.324G>ASubstitution - coding silent
F8ENSG00000185010ENST00000360256p.K441Tc.1322A>CSubstitution - Missense
SCAF8ENSG00000213079ENST00000367178p.M693Ic.2079G>CSubstitution - Missense
ZCCHC9ENSG00000131732ENST00000380199p.A5Sc.13G>TSubstitution - Missense
MKNK2ENSG00000099875ENST00000250896p.T72Tc.216C>GSubstitution - coding silent
NCANENSG00000130287ENST00000252575p.A590Ac.1770C>TSubstitution - coding silent
LAMA2ENSG00000196569ENST00000421865p.L1019Mc.3055C>ASubstitution - Missense
PCDHGA12ENSG00000253159ENST00000252085p.C384Sc.1151G>CSubstitution - Missense
ITGA2BENSG00000005961ENST00000262407p.I467Mc.1401C>GSubstitution - Missense
NRXN1ENSG00000179915ENST00000406316p.V140Vc.420C>GSubstitution - coding silent
NWD1ENSG00000188039ENST00000524140p.M503Vc.1507A>GSubstitution - Missense
ZMYND8ENSG00000101040ENST00000461685p.Y87Fc.260A>TSubstitution - Missense
NPIPB6ENSG00000198156ENST00000532254p.R378Wc.1132A>TSubstitution - Missense
MEAF6ENSG00000163875ENST00000373074p.K164Kc.492A>GSubstitution - coding silent
C3orf70ENSG00000187068ENST00000335012p.S182Sc.546T>CSubstitution - coding silent
ENST00000417442p.P193Sc.577C>TSubstitution - Missense
TMEM41AENSG00000163900ENST00000421852p.?c.274-5T>GUnknown
FAM135BENSG00000147724ENST00000395297p.S803Rc.2407A>CSubstitution - Missense
LPIN1ENSG00000134324ENST00000449576p.D541Gc.1622A>GSubstitution - Missense
ENST00000466655p.H398Hc.1194T>CSubstitution - coding silent
COL20A1ENSG00000101203ENST00000422202p.N262fs*66c.783_784insGInsertion - Frameshift
SLC16A12ENSG00000152779ENST00000341233p.G296Ac.887G>CSubstitution - Missense
FBN2ENSG00000138829ENST00000508053p.M1219Vc.3655A>GSubstitution - Missense
NADKENSG00000008130ENST00000342348p.E413delEc.1238_1240delAGGDeletion - In frame
NRXN1ENSG00000179915ENST00000406316p.T779Tc.2337G>ASubstitution - coding silent
EXOC5ENSG00000070367ENST00000413566p.E144Qc.430G>CSubstitution - Missense
ENST00000448396p.L46Lc.138G>TSubstitution - coding silent
OCRLENSG00000122126ENST00000371113p.K578Kc.1734G>ASubstitution - coding silent
DSCAMENSG00000171587ENST00000400454p.S1104Rc.3310A>CSubstitution - Missense
THOC1ENSG00000079134ENST00000261600p.Q330Qc.990A>GSubstitution - coding silent
ENST00000356127p.M30649Tc.91946T>CSubstitution - Missense
PDE11AENSG00000128655ENST00000358450p.E298Qc.892G>CSubstitution - Missense
GLYCTKENSG00000168237ENST00000436784p.A185Tc.553G>ASubstitution - Missense
DDX52ENSG00000141141ENST00000349699p.Q66Rc.197A>GSubstitution - Missense
TET3ENSG00000187605ENST00000409262p.P269Lc.806C>TSubstitution - Missense
ENST00000316893p.G576Gc.1728C>TSubstitution - coding silent
STT3BENSG00000163527ENST00000295770p.G46Sc.136G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.A4086Tc.12256G>ASubstitution - Missense
AIM1ENSG00000112297ENST00000369066p.R1020Qc.3059G>ASubstitution - Missense
ZNF236ENSG00000130856ENST00000253159p.T1773Tc.5319G>ASubstitution - coding silent
NM_152424.1p.P511Pc.1533A>TSubstitution - coding silent
PODXLENSG00000128567ENST00000537928p.L468Pc.1403T>CSubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.?c.6032-5C>TUnknown
ELNENSG00000049540ENST00000358929p.A742Ec.2225C>ASubstitution - Missense
DENND1AENSG00000119522ENST00000373620p.?c.1228-7A>GUnknown
XKR9ENSG00000221947ENST00000408926p.F78Cc.233T>GSubstitution - Missense
GRIA3ENSG00000125675ENST00000541091p.T98Tc.294C>ASubstitution - coding silent
TENM1ENSG00000009694ENST00000422452p.T2252Sc.6755C>GSubstitution - Missense
BCORL1ENSG00000085185ENST00000303743p.G892Gc.2676G>CSubstitution - coding silent
WDR26ENSG00000162923ENST00000295024p.V183Vc.549G>TSubstitution - coding silent
ERN2ENSG00000134398ENST00000256797p.R319Wc.955C>TSubstitution - Missense
PLOD3ENSG00000106397ENST00000223127p.Y630*c.1890T>GSubstitution - Nonsense
ANKRD30AENSG00000148513ENST00000602533p.S866Yc.2597C>ASubstitution - Missense
ECM1ENSG00000143369ENST00000369049p.P316Pc.948T>CSubstitution - coding silent
ARHGEF19ENSG00000142632ENST00000270747p.R654Qc.1961G>ASubstitution - Missense
KIF21AENSG00000139116ENST00000395670p.P1449Sc.4345C>TSubstitution - Missense
FHENSG00000091483ENST00000366560p.?c.1108+7A>GUnknown
RASAL2ENSG00000075391ENST00000462775p.E1063*c.3187G>TSubstitution - Nonsense
ARHGEF10LENSG00000074964ENST00000361221p.E328Dc.984A>TSubstitution - Missense
GNAI3ENSG00000065135ENST00000369851p.D59Vc.176A>TSubstitution - Missense
SPEGENSG00000072195ENST00000396688p.S11Yc.32C>ASubstitution - Missense
COLQENSG00000206561ENST00000435459p.?c.570+1G>AUnknown
COLQENSG00000206561ENST00000383785p.?c.600+1G>AUnknown
PLCH1ENSG00000114805ENST00000494598p.D132Nc.394G>ASubstitution - Missense
NRXN1ENSG00000179915ENST00000402717p.V140Vc.420C>GSubstitution - coding silent
NRXN1ENSG00000179915ENST00000402717p.T771Tc.2313G>ASubstitution - coding silent
INPP4BENSG00000109452ENST00000513000p.E574Kc.1720G>ASubstitution - Missense
ETV5ENSG00000244405ENST00000537818p.?c.489-1G>AUnknown
MUC4ENSG00000145113ENST00000463781p.G2748Gc.8244T>ASubstitution - coding silent
ENST00000405167p.G2748Gc.8244T>ASubstitution - coding silent
ATXN3ENSG00000066427ENST00000532032p.Q305_G306insQQQQQc.915_916ins15Insertion - In frame
ATXN3ENSG00000066427ENST00000429774p.Q298_G299insQQQQQc.894_895ins15Insertion - In frame
ATXN3ENSG00000066427ENST00000532032p.Q305_G306insQQQQQc.883_884ins15Insertion - In frame
KLHL5ENSG00000109790ENST00000381930p.A17Sc.49G>TSubstitution - Missense
EVC2ENSG00000173040ENST00000344938p.V289Lc.865G>TSubstitution - Missense
LPHN3ENSG00000150471ENST00000507625p.P1387Hc.4160C>ASubstitution - Missense
CTU2ENSG00000174177ENST00000567949p.?c.1311-1G>AUnknown
TRPV3ENSG00000167723ENST00000301365p.R462Pc.1385G>CSubstitution - Missense
ENST00000378024_v70p.S5031Nc.15092G>ASubstitution - Missense
SCAF8ENSG00000213079ENST00000367186p.M759Ic.2277G>CSubstitution - Missense
CEP85LENSG00000111860ENST00000419517p.Q421Qc.1263A>GSubstitution - coding silent
MCTP1ENSG00000175471ENST00000312216p.Y573Fc.1718A>TSubstitution - Missense
COBLENSG00000106078ENST00000395542p.E229Kc.685G>ASubstitution - Missense
MYO9AENSG00000066933ENST00000424560p.R985Rc.2955G>ASubstitution - coding silent
RIN3ENSG00000100599ENST00000556418p.V368Mc.1102G>ASubstitution - Missense
TTC7BENSG00000165914ENST00000357056p.A713Ac.2139A>GSubstitution - coding silent
ENST00000389961_v65p.L578Sc.1733T>CSubstitution - Missense
ABCA4ENSG00000198691ENST00000535735p.?c.1760+2T>GUnknown
LRRC48ENSG00000171962ENST00000582416p.L46Lc.138G>TSubstitution - coding silent
ENST00000532254_v68p.R378Wc.1132A>TSubstitution - Missense
SOGA2ENSG00000168502ENST00000306285p.S717Fc.2150C>TSubstitution - Missense
SDK2ENSG00000069188ENST00000392650p.I608Vc.1822A>GSubstitution - Missense
SDK2ENSG00000069188ENST00000392650p.G576Gc.1728C>TSubstitution - coding silent
USP6ENSG00000129204ENST00000304328p.S647Fc.1940C>TSubstitution - Missense
CLEC4MENSG00000104938ENST00000394122p.D372Hc.1114G>CSubstitution - Missense
SIRPB1ENSG00000101307ENST00000565076p.I46Ic.138C>TSubstitution - coding silent
ENST00000263281_v70p.A185Vc.554C>TSubstitution - Missense
AP3D1ENSG00000065000ENST00000355272p.N628Sc.1883A>GSubstitution - Missense
FAM129CENSG00000167483ENST00000595684p.V597Vc.1791A>GSubstitution - coding silent
UNC13AENSG00000130477ENST00000252773p.G289Dc.866G>ASubstitution - Missense
SUGP2ENSG00000064607ENST00000452918p.T844Mc.2531C>TSubstitution - Missense
MAP4K4ENSG00000071054ENST00000350198p.R1111Lc.3332G>TSubstitution - Missense
TOP3BENSG00000100038ENST00000413067p.D152Hc.454G>CSubstitution - Missense
TCFL5ENSG00000101190ENST00000217162p.A199Vc.596C>TSubstitution - Missense
NUP98ENSG00000110713ENST00000359171p.?c.1847+3A>GUnknown
USP47ENSG00000170242ENST00000399455p.Q136Hc.408A>CSubstitution - Missense
SLC16A12ENSG00000152779ENST00000371790p.G326Ac.977G>CSubstitution - Missense
CYP26A1ENSG00000095596ENST00000224356p.N410Kc.1230C>ASubstitution - Missense
ENST00000454161p.A618Sc.1852G>TSubstitution - Missense
OR8J3ENSG00000167822ENST00000301529p.A203Vc.608C>TSubstitution - Missense
OR51M1ENSG00000184698ENST00000328611p.R248Cc.742C>TSubstitution - Missense
OR51Q1ENSG00000167360ENST00000300778p.P160Sc.478C>TSubstitution - Missense
TRIM49BENSG00000182053ENST00000332682p.P276Pc.828C>TSubstitution - coding silent
ANKLE2ENSG00000176915ENST00000337516p.C203Fc.608G>TSubstitution - Missense
PRB2ENSG00000121335ENST00000389362p.P51Rc.152C>GSubstitution - Missense
TMEM135ENSG00000166575ENST00000355734p.K119Kc.357A>GSubstitution - coding silent
ENST00000326910p.Y88*c.264C>ASubstitution - Nonsense
CCDC65ENSG00000139537ENST00000266984p.H78Yc.232C>TSubstitution - Missense
RABGAP1LENSG00000152061ENST00000357444p.P70Qc.209C>ASubstitution - Missense
RABGAP1LENSG00000152061ENST00000457696p.P107Qc.320C>ASubstitution - Missense
VWA5B1ENSG00000158816ENST00000375083p.G466Gc.1398C>TSubstitution - coding silent
SPTAN1ENSG00000197694ENST00000372731p.L1504Lc.4512G>ASubstitution - coding silent
FAM198BENSG00000164125ENST00000393807p.P193Sc.577C>TSubstitution - Missense
KCNH8ENSG00000183960ENST00000328405p.I266Fc.796A>TSubstitution - Missense
SATB1ENSG00000182568ENST00000338745p.A50Ac.150A>CSubstitution - coding silent
VPS8ENSG00000156931ENST00000437079p.H1069Qc.3207T>ASubstitution - Missense
CLCN2ENSG00000114859ENST00000265593p.W276*c.828G>ASubstitution - Nonsense
FBXO8ENSG00000164117ENST00000393674p.G305Wc.913G>TSubstitution - Missense
ASB5ENSG00000164122ENST00000296525p.D114Yc.340G>TSubstitution - Missense
SLBPENSG00000163950ENST00000489418p.R108Rc.324A>GSubstitution - coding silent
MSH5ENSG00000204410ENST00000375742p.V529Lc.1585G>CSubstitution - Missense
MSH5ENSG00000204410ENST00000375703p.V512Lc.1534G>CSubstitution - Missense
MSH5ENSG00000204410ENST00000375703p.L607Fc.1821G>CSubstitution - Missense
CDC20BENSG00000164287ENST00000331730p.D187Gc.560A>GSubstitution - Missense
C5orf34ENSG00000172244ENST00000306862p.H146Dc.436C>GSubstitution - Missense
NNTENSG00000112992ENST00000264663p.T910Ac.2728A>GSubstitution - Missense
HSP90AB1ENSG00000096384ENST00000371646p.?c.1732-6C>TUnknown
TNXBENSG00000168477ENST00000375247p.P1126Lc.3377C>TSubstitution - Missense
TNXBENSG00000168477ENST00000375244p.P1039Lc.3116C>TSubstitution - Missense
GFRALENSG00000187871ENST00000340465p.?c.701+9A>TUnknown
GSTA2ENSG00000244067ENST00000493422p.V66Vc.198G>ASubstitution - coding silent
CDYLENSG00000153046ENST00000328908p.D210Dc.630C>TSubstitution - coding silent
LRRC27ENSG00000148814ENST00000432555p.A331Tc.991G>ASubstitution - Missense
C10orf82ENSG00000165863ENST00000588184p.C38Cc.114T>CSubstitution - coding silent
EVC2ENSG00000173040ENST00000344408p.V289Lc.865G>TSubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
SCN3AENSG00000153253ENST00000409101p.R1848Hc.5543G>ASubstitution - Missense
TOP3BENSG00000100038ENST00000357179p.D423Hc.1267G>CSubstitution - Missense
TOP3BENSG00000100038ENST00000357179p.D423Hc.1267G>CSubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.R2585Hc.7754G>ASubstitution - Missense
FAM49AENSG00000197872ENST00000381323p.S96Sc.288C>TSubstitution - coding silent
CERS6ENSG00000172292ENST00000305747p.A2Sc.4G>TSubstitution - Missense
ZFATENSG00000066827ENST00000377838p.K133Kc.399G>ASubstitution - coding silent
ENST00000398946p.K121Kc.363G>ASubstitution - coding silent
ADCY8ENSG00000155897ENST00000286355p.R772Rc.2316G>ASubstitution - coding silent
DENND1AENSG00000119522ENST00000394219p.?c.1132-7A>GUnknown
LHX6ENSG00000106852ENST00000394319p.R252Wc.754C>TSubstitution - Missense
LHX6ENSG00000106852ENST00000340587p.R252Wc.754C>TSubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.S1207Sc.3621T>CSubstitution - coding silent
AP4M1ENSG00000221838ENST00000359593p.V74Fc.220G>TSubstitution - Missense
AP4M1ENSG00000221838ENST00000359593p.?c.975-7T>GUnknown
ZNF716ENSG00000182111ENST00000420713p.A2Ac.6T>ASubstitution - coding silent
ENST00000316490p.N2840Sc.8519A>GSubstitution - Missense
ENST00000309900p.N446Sc.1337A>GSubstitution - Missense
ABCA3ENSG00000167972ENST00000301732p.S341Sc.1023C>TSubstitution - coding silent
NWD1ENSG00000188039ENST00000339803p.M368Vc.1102A>GSubstitution - Missense
ARHGAP17ENSG00000140750ENST00000289968p.?c.852+7G>AUnknown
ARHGAP17ENSG00000140750ENST00000303665p.?c.852+7G>AUnknown
SH3GL1ENSG00000141985ENST00000269886p.I333Ic.999C>TSubstitution - coding silent
PSG8ENSG00000124467ENST00000306511p.C310Yc.929G>ASubstitution - Missense
DMRTC2ENSG00000142025ENST00000269945p.C12Sc.35G>CSubstitution - Missense
NXNL1ENSG00000171773ENST00000301944p.R60Wc.178C>TSubstitution - Missense
FAM129CENSG00000167483ENST00000332386p.V597Vc.1791A>GSubstitution - coding silent
ADAENSG00000196839ENST00000372874p.H197Yc.589C>TSubstitution - Missense
IRGCENSG00000124449ENST00000244314p.P82Ac.244C>GSubstitution - Missense
MBD5ENSG00000204406ENST00000407073p.V1349Mc.4045G>ASubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.S314Tc.941G>CSubstitution - Missense
RPP21ENSG00000241370ENST00000428040p.P26Rc.77C>GSubstitution - Missense
HIST1H2AKENSG00000184348ENST00000330180p.H125Yc.373C>TSubstitution - Missense
HIST1H2AKENSG00000184348ENST00000330180p.G8Cc.22G>TSubstitution - Missense
HIST1H2AHENSG00000184825ENST00000377459p.G23Gc.69G>ASubstitution - coding silent
POM121L2ENSG00000158553ENST00000444565p.L616Lc.1848G>CSubstitution - coding silent
TNFENSG00000232810ENST00000449264p.R65Rc.195G>ASubstitution - coding silent
HLA-CENSG00000204525ENST00000376228p.A159Ac.477C>TSubstitution - coding silent
ENST00000539307p.A196Ac.588C>TSubstitution - coding silent
IMMP2LENSG00000184903ENST00000331762p.R109Qc.326G>ASubstitution - Missense
ZNF425ENSG00000204947ENST00000378061p.R322Gc.964C>GSubstitution - Missense
COBLENSG00000106078ENST00000265136p.E229Kc.685G>ASubstitution - Missense
TNRC18ENSG00000182095ENST00000430969p.L1802Pc.5405T>CSubstitution - Missense
DCUN1D1ENSG00000043093ENST00000292782p.L184*c.551T>ASubstitution - Nonsense
CCDC39ENSG00000145075ENST00000442201p.V934Ic.2800G>ASubstitution - Missense
KCNMB3ENSG00000171121ENST00000349697p.N163fs*10c.488delADeletion - Frameshift
FNDC3BENSG00000075420ENST00000336824p.D322Nc.964G>ASubstitution - Missense
SLC7A14ENSG00000013293ENST00000231706p.P358Pc.1074G>ASubstitution - coding silent
ZBBXENSG00000169064ENST00000392766p.T682Nc.2045C>ASubstitution - Missense
PDE6AENSG00000132915ENST00000255266p.R652Cc.1954C>TSubstitution - Missense
ENST00000421549p.G752Dc.2255G>ASubstitution - Missense
SPINK5ENSG00000133710ENST00000256084p.T214Ac.640A>GSubstitution - Missense
PCDHGB3ENSG00000262209ENST00000576222p.I699Ic.2097C>ASubstitution - coding silent
FCN1ENSG00000085265ENST00000371806p.?c.733+1G>AUnknown
FCGBPENSG00000090920ENST00000221347p.L2586Qc.7757T>ASubstitution - Missense
F9ENSG00000101981ENST00000218099p.?c.521-9T>CUnknown
F9ENSG00000101981ENST00000218099p.?c.521-8T>AUnknown
GPR112ENSG00000156920ENST00000394143p.I1885Tc.5654T>CSubstitution - Missense
GPR112ENSG00000156920ENST00000394143p.T2271Tc.6813G>ASubstitution - coding silent
DNAH5ENSG00000039139ENST00000265104p.A2224Ac.6672A>GSubstitution - coding silent
SVEP1ENSG00000165124ENST00000401783p.?c.9822+4A>CUnknown
SLC44A1ENSG00000070214ENST00000374720p.V110Vc.330A>GSubstitution - coding silent
MOXD1ENSG00000079931ENST00000367963p.?c.411+8A>GUnknown
MOXD1ENSG00000079931ENST00000336749p.?c.207+8A>GUnknown
ENPP1ENSG00000197594ENST00000360971p.S235Fc.704C>TSubstitution - Missense
PTPRKENSG00000152894ENST00000368227p.P839Pc.2517G>TSubstitution - coding silent
TRPV3ENSG00000167723ENST00000576742p.R462Pc.1385G>CSubstitution - Missense
RAD51DENSG00000185379ENST00000394589p.?c.799-7G>TUnknown
RAD51DENSG00000185379ENST00000335858p.?c.403-7G>TUnknown
SLC35G3ENSG00000164729ENST00000297307p.P56Sc.166C>TSubstitution - Missense
SIX3ENSG00000138083ENST00000260653p.W253Lc.758G>TSubstitution - Missense
ZZEF1ENSG00000074755ENST00000381638p.R1534Wc.4600C>TSubstitution - Missense
ENST00000393911p.G213Gc.639C>ASubstitution - coding silent
RNF43ENSG00000108375ENST00000407977p.R132Rc.396A>GSubstitution - coding silent
USP6ENSG00000129204ENST00000250066p.S964Fc.2891C>TSubstitution - Missense
MRPL54ENSG00000183617ENST00000330133p.A18Sc.52G>TSubstitution - Missense
PRODH2ENSG00000250799ENST00000301175p.R380*c.1138C>TSubstitution - Nonsense
ZNF792ENSG00000180884ENST00000404801p.I56Tc.167T>CSubstitution - Missense
GRAMD1AENSG00000089351ENST00000317991p.?c.1333-10G>CUnknown
KLHL4ENSG00000102271ENST00000373114p.V161Ac.482T>CSubstitution - Missense
LIX1ENSG00000145721ENST00000274382p.A235Vc.704C>TSubstitution - Missense
POU5F2ENSG00000248483ENST00000510627p.V151Vc.453G>ASubstitution - coding silent
MCTP1ENSG00000175471ENST00000515393p.Y794Fc.2381A>TSubstitution - Missense
COL5A3ENSG00000080573ENST00000264828p.?c.1201-8C>GUnknown
GRIN3BENSG00000116032ENST00000234389p.A757Vc.2270C>TSubstitution - Missense
FAM227AENSG00000184949ENST00000355830p.H491Hc.1473T>CSubstitution - coding silent
CDC42EP1ENSG00000128283ENST00000249014p.R310Qc.929G>ASubstitution - Missense
DSTENSG00000151914ENST00000244364p.V5131Vc.15393C>GSubstitution - coding silent
NM_001198.2p.K2Nc.6A>CSubstitution - Missense
DSPENSG00000096696ENST00000379802p.D1258Yc.3772G>TSubstitution - Missense
OGFRL1ENSG00000119900ENST00000370435p.V356Lc.1066G>CSubstitution - Missense
SMC2ENSG00000136824ENST00000286398p.H379Hc.1137C>TSubstitution - coding silent
MTBPENSG00000172167ENST00000305949p.L339Vc.1015C>GSubstitution - Missense
HAS2ENSG00000170961ENST00000303924p.R259fs*7c.772_773insTInsertion - Frameshift
ENST00000262365_v68p.L114Lc.342G>TSubstitution - coding silent
CSMD3ENSG00000164796ENST00000297405p.S1952Sc.5856A>GSubstitution - coding silent
CSMD3ENSG00000164796ENST00000343508p.S1912Sc.5736A>GSubstitution - coding silent
CSMD3ENSG00000164796ENST00000343508p.Q3346Qc.10038A>GSubstitution - coding silent
CEP85LENSG00000111860ENST00000368491p.Q421Qc.1263A>GSubstitution - coding silent
SRCAPENSG00000080603ENST00000262518p.V1378Lc.4132G>CSubstitution - Missense
SRCAPENSG00000080603ENST00000262518p.P2972Pc.8916A>GSubstitution - coding silent
SETD1AENSG00000099381ENST00000262519p.S221Sc.663C>GSubstitution - coding silent
ITGALENSG00000005844ENST00000356798p.G515Sc.1543G>ASubstitution - Missense
DOC2AENSG00000149927ENST00000350119p.A54Tc.160G>ASubstitution - Missense
VGLL4ENSG00000144560ENST00000273038p.H282Hc.846C>TSubstitution - coding silent
MAP3K19ENSG00000176601ENST00000375845p.G158Gc.474C>GSubstitution - coding silent
NCKAP5ENSG00000176771ENST00000409261p.Q1315Rc.3944A>GSubstitution - Missense
TFENSG00000091513ENST00000402696p.D647Nc.1939G>ASubstitution - Missense
DNAJC13ENSG00000138246ENST00000260818p.R342Qc.1025G>ASubstitution - Missense
CASRENSG00000036828ENST00000296154p.T577Tc.1731A>GSubstitution - coding silent
NM_001184p.H1999Yc.5995C>TSubstitution - Missense
CCDC149ENSG00000181982ENST00000504487p.K69Ec.205A>GSubstitution - Missense
ENST00000324309p.K14Ec.40A>GSubstitution - Missense
DHX15ENSG00000109606ENST00000336812p.L664Lc.1992A>GSubstitution - coding silent
FAM149AENSG00000109794ENST00000356371p.W287Cc.861G>CSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.G4294Ac.12881G>CSubstitution - Missense
CUL9ENSG00000112659ENST00000252050p.R372Hc.1115G>ASubstitution - Missense
PRICKLE4ENSG00000124593ENST00000394263p.R102Qc.305G>ASubstitution - Missense
PRICKLE4ENSG00000124593ENST00000335515p.R102Qc.305G>ASubstitution - Missense
KCNK17ENSG00000124780ENST00000373231p.E299*c.895G>TSubstitution - Nonsense
MAPK13ENSG00000156711ENST00000211287p.T298Tc.894G>ASubstitution - coding silent
MAPK13ENSG00000156711ENST00000211287p.T298Tc.894G>ASubstitution - coding silent
PRKAR1BENSG00000188191ENST00000360274p.R95Hc.284G>ASubstitution - Missense
AMER1ENSG00000184675ENST00000330258p.P511Pc.1533A>TSubstitution - coding silent
KLF8ENSG00000102349ENST00000468660p.A200Sc.598G>TSubstitution - Missense
IL12RB1ENSG00000096996ENST00000430026p.E639Dc.1917G>CSubstitution - Missense
UNC13AENSG00000130477ENST00000428389p.G377Dc.1130G>ASubstitution - Missense
UNC13AENSG00000130477ENST00000519716p.G289Dc.866G>ASubstitution - Missense
CDX4ENSG00000131264ENST00000373514p.S37Cc.109A>TSubstitution - Missense
RTN2ENSG00000125744ENST00000245923p.R425Lc.1274G>TSubstitution - Missense
GIPRENSG00000010310ENST00000263281p.A185Vc.554C>TSubstitution - Missense
FBXO46ENSG00000177051ENST00000317683p.A495Ac.1485C>TSubstitution - coding silent
AP3D1ENSG00000065000ENST00000345016p.N628Sc.1883A>GSubstitution - Missense
ENST00000311237p.?c.4-9G>AUnknown
ENST00000344519_v61p.T300fs*4c.898_899insAInsertion - Frameshift
ENST00000344519_v61p.T272fs*4c.815_897del83Deletion - Frameshift
KIAA0556ENSG00000047578ENST00000261588p.D1166Nc.3496G>ASubstitution - Missense
BAXENSG00000087088ENST00000293288p.R78Mc.233G>TSubstitution - Missense
BAXENSG00000087088ENST00000345358p.R78Mc.233G>TSubstitution - Missense
HS3ST4ENSG00000182601ENST00000331351p.A278Sc.832G>TSubstitution - Missense
HS3ST4ENSG00000182601ENST00000331351p.A278Sc.832G>TSubstitution - Missense
MRPL44ENSG00000135900ENST00000258383p.T130Kc.389C>ASubstitution - Missense
SU_SPEGp.S860Yc.2579C>ASubstitution - Missense
ANXA4ENSG00000196975ENST00000394295p.L43Ic.127C>ASubstitution - Missense
CCDC85AENSG00000055813ENST00000407595p.S502Fc.1505C>TSubstitution - Missense
SERHL2ENSG00000183569ENST00000327678p.?c.732-5T>GUnknown
TRHENSG00000170893ENST00000302649p.E173Kc.517G>ASubstitution - Missense
CAND2ENSG00000144712ENST00000295989p.?c.69-3C>GUnknown
MLC1ENSG00000100427ENST00000395876p.Y12Sc.35A>CSubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.L1999Lc.5997G>TSubstitution - coding silent
COL7A1ENSG00000114270ENST00000328333p.V1942Mc.5824G>ASubstitution - Missense
CELSR3ENSG00000008300ENST00000164024p.R3078Rc.9234G>ASubstitution - coding silent
TREX1ENSG00000213689ENST00000422277p.V112Lc.334G>CSubstitution - Missense
XCR1ENSG00000173578ENST00000309285p.S130Sc.390G>TSubstitution - coding silent
ARHGEF28ENSG00000214944ENST00000545377p.?c.1636-3T>CUnknown
ARHGEF28ENSG00000214944ENST00000296794p.?c.1636-3T>CUnknown
ARHGEF28ENSG00000214944ENST00000545377p.Y909Yc.2727C>TSubstitution - coding silent
ARHGEF28ENSG00000214944ENST00000296794p.Y909Yc.2727C>TSubstitution - coding silent
TNFAIP3ENSG00000118503ENST00000237289p.S176Sc.528C>GSubstitution - coding silent
NPR3ENSG00000113389ENST00000326958p.S80Lc.239C>TSubstitution - Missense
FBXO5ENSG00000112029ENST00000229758p.V106Vc.318A>GSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.A4086Tc.12256G>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.A4015Tc.12043G>ASubstitution - Missense
LATS1ENSG00000131023ENST00000253339p.N1087Nc.3261T>CSubstitution - coding silent
LATS1ENSG00000131023ENST00000543571p.N1087Nc.3261T>CSubstitution - coding silent
GRM1ENSG00000152822ENST00000282753p.R912Rc.2736C>ASubstitution - coding silent
RPA3ENSG00000106399ENST00000396682p.A102Sc.304G>TSubstitution - Missense
NOD1ENSG00000106100ENST00000222823p.H454Hc.1362C>TSubstitution - coding silent
MAP3K4ENSG00000085511ENST00000392142p.G579Dc.1736G>ASubstitution - Missense
SUN1ENSG00000164828ENST00000401592p.A466Ac.1398G>ASubstitution - coding silent
SUN1ENSG00000164828ENST00000456758p.A655Ac.1965G>ASubstitution - coding silent
KIAA1324LENSG00000164659ENST00000450689p.I493Tc.1478T>CSubstitution - Missense
KIAA1324LENSG00000164659ENST00000297222p.I253Tc.758T>CSubstitution - Missense
ICA1ENSG00000003147ENST00000402384p.E279Dc.837G>CSubstitution - Missense
CDKL5ENSG00000008086ENST00000379996p.N731Nc.2193T>CSubstitution - coding silent
F8ENSG00000185010ENST00000360256p.V2242Mc.6724G>ASubstitution - Missense
F8ENSG00000185010ENST00000360256p.N1161Ic.3482A>TSubstitution - Missense
F8ENSG00000185010ENST00000360256p.K441Tc.1322A>CSubstitution - Missense
PLCD4ENSG00000115556ENST00000450993p.S62Pc.184T>CSubstitution - Missense
TRIB2ENSG00000071575ENST00000155926p.R291Rc.873G>ASubstitution - coding silent
VIL1ENSG00000127831ENST00000248444p.P17Lc.50C>TSubstitution - Missense
MYO7BENSG00000169994ENST00000428314p.Y1886fs*19c.5652delCDeletion - Frameshift
ENST00000272666p.Y2130fs*19c.6384delCDeletion - Frameshift
NIFKENSG00000155438ENST00000285814p.S247Cc.740C>GSubstitution - Missense
LPIN1ENSG00000134324ENST00000256720p.D456Gc.1367A>GSubstitution - Missense
SP100ENSG00000067066ENST00000264052p.G203Ec.608G>ASubstitution - Missense
NM_145686p.R1265Lc.3794G>TSubstitution - Missense
IL1R1ENSG00000115594ENST00000233946p.P143Hc.428C>ASubstitution - Missense
ULK4ENSG00000168038ENST00000301831p.L229Fc.685C>TSubstitution - Missense
SCN10AENSG00000185313ENST00000449082p.D193Ec.579T>GSubstitution - Missense
SCN11AENSG00000168356ENST00000302328p.D1530Gc.4589A>GSubstitution - Missense
SCN5AENSG00000183873ENST00000413689p.D1275Nc.3823G>ASubstitution - Missense
ENST00000333535_v68p.D1275Nc.3823G>ASubstitution - Missense
FHOD1ENSG00000135723ENST00000258201p.E765Kc.2293G>ASubstitution - Missense
YTHDC2ENSG00000047188ENST00000161863p.S451Ic.1352G>TSubstitution - Missense
FBXO41ENSG00000163013ENST00000521871p.A316Ac.948G>ASubstitution - coding silent
FBXO41ENSG00000163013ENST00000295133p.A377Ac.1131G>ASubstitution - coding silent
C2orf78ENSG00000187833ENST00000409561p.L201Lc.603G>ASubstitution - coding silent
RETSATENSG00000042445ENST00000295802p.A467Tc.1399G>ASubstitution - Missense
RETSATENSG00000042445ENST00000295802p.T466Sc.1397C>GSubstitution - Missense
DQX1ENSG00000144045ENST00000404568p.F52Lc.154T>CSubstitution - Missense
TRIM59ENSG00000213186ENST00000309784p.V340Ic.1018G>ASubstitution - Missense
PLCH1ENSG00000114805ENST00000340059p.D132Nc.394G>ASubstitution - Missense
PLCH1ENSG00000114805ENST00000334686p.D114Nc.340G>ASubstitution - Missense
COLQENSG00000206561ENST00000383788p.?c.600+1G>AUnknown
COLQENSG00000206561ENST00000383781p.?c.570+1G>AUnknown
GRM6ENSG00000113262ENST00000231188p.Q171Hc.513G>TSubstitution - Missense
ZNF879ENSG00000234284ENST00000444149p.S48Nc.143G>ASubstitution - Missense
ADAMTS2ENSG00000087116ENST00000251582p.K582Kc.1746G>ASubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.I3116Tc.9347T>CSubstitution - Missense
RNF212ENSG00000178222ENST00000433731p.K134Qc.400A>CSubstitution - Missense
RNF212ENSG00000178222ENST00000382968p.K134Qc.400A>CSubstitution - Missense
BDH2ENSG00000164039ENST00000296424p.I129delIc.386_388delTCADeletion - In frame
CENPEENSG00000138778ENST00000265148p.E1949Ec.5847A>GSubstitution - coding silent
FGFRL1ENSG00000127418ENST00000398484p.H450Rc.1349A>GSubstitution - Missense
ENST00000542622p.H420Rc.1259A>GSubstitution - Missense
CAMK1ENSG00000134072ENST00000256460p.A13Vc.38C>TSubstitution - Missense
GSRENSG00000104687ENST00000221130p.G315Sc.943G>ASubstitution - Missense
NM_016323.1p.L391Vc.1171C>GSubstitution - Missense
FAM47AENSG00000185448ENST00000346193p.L504Fc.1510C>TSubstitution - Missense
PRKDCENSG00000253729ENST00000314191p.?c.9919+3A>GUnknown
LETM2ENSG00000165046ENST00000379957p.V159Dc.476T>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.?c.4984+9G>TUnknown
ENST00000318252p.?c.4171+9G>TUnknown
AKAP4ENSG00000147081ENST00000358526p.A673Vc.2018C>TSubstitution - Missense
RBM10ENSG00000182872ENST00000377604p.N392Sc.1175A>GSubstitution - Missense
OTTHUMT00000056248.1p.L104Lc.312T>GSubstitution - coding silent
ZNF544ENSG00000198131ENST00000269829p.S691fs*2c.2068_2069insGTAGInsertion - Frameshift
ENSG00000176593ENST00000313957p.T320Tc.960C>GSubstitution - coding silent
CHRNB1ENSG00000170175ENST00000306071p.M465Tc.1394T>CSubstitution - Missense
ENST00000316893p.I608Vc.1822A>GSubstitution - Missense
CRBNENSG00000113851ENST00000231948p.R295*c.883A>TSubstitution - Nonsense
RANBP2ENSG00000153201ENST00000283195p.N2557Nc.7671T>CSubstitution - coding silent
MRPS9ENSG00000135972ENST00000258455p.I195Tc.584T>CSubstitution - Missense
PRKCGENSG00000126583ENST00000540413p.R659Hc.1976G>ASubstitution - Missense
ZNF808ENSG00000198482ENST00000359798p.K733Kc.2199A>GSubstitution - coding silent
ZNF600ENSG00000189190ENST00000338230p.M60Ic.180G>ASubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.?c.7282-7C>TUnknown
KCNQ2ENSG00000075043ENST00000359125p.G660Wc.1978G>TSubstitution - Missense
CADENSG00000084774ENST00000264705p.V1895Ic.5683G>ASubstitution - Missense
LIMK2ENSG00000182541ENST00000340552p.I414Ic.1242C>TSubstitution - coding silent
CHEK2ENSG00000183765ENST00000328354p.?c.793-5C>GUnknown
MUC4ENSG00000145113ENST00000463781p.S3527Sc.10581C>TSubstitution - coding silent
HEATR5BENSG00000008869ENST00000233099p.V1431Vc.4293G>ASubstitution - coding silent
C2orf16ENSG00000221843ENST00000408964p.S1658Sc.4974A>TSubstitution - coding silent
C2orf16ENSG00000221843ENST00000408964p.S1658Sc.4974A>TSubstitution - coding silent
ENST00000405167p.S1800Sc.5400G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.D2005fs*999c.6012delCDeletion - Frameshift
ENST00000405167p.D2005fs*871c.6012delCDeletion - Frameshift
ENST00000405167p.G2700Gc.8100T>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T2607Nc.7820C>ASubstitution - Missense
ENST00000405167p.T2607Nc.7820C>ASubstitution - Missense
ENST00000405167p.V2435Lc.7303G>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P2930Sc.8788C>TSubstitution - Missense
NEK10ENSG00000163491ENST00000341435p.H100Nc.298C>ASubstitution - Missense
NEK10ENSG00000163491ENST00000429845p.H100Nc.298C>ASubstitution - Missense
SU_NEK10p.H100Nc.298C>ASubstitution - Missense
NEK10ENSG00000163491ENST00000341435p.K99Nc.297A>CSubstitution - Missense
SLC4A7ENSG00000033867ENST00000295736p.I1099Lc.3295A>TSubstitution - Missense
SLC4A7ENSG00000033867ENST00000455077p.I980Lc.2938A>TSubstitution - Missense
AZI2ENSG00000163512ENST00000479665p.?c.766+1G>AUnknown
ANO7ENSG00000146205ENST00000274979p.P754Pc.2262G>CSubstitution - coding silent
ANKMY1ENSG00000144504ENST00000361678p.R584Rc.1752C>TSubstitution - coding silent
OR6B3ENSG00000178586ENST00000319423p.G233fs*35c.691_692insCCACInsertion - Frameshift
ZBTB11ENSG00000066422ENST00000312938p.E179Vc.536A>TSubstitution - Missense
TSGA10ENSG00000135951ENST00000355053p.R99Wc.295C>TSubstitution - Missense
FAM228BENSG00000219626ENST00000420135p.F124Fc.372T>CSubstitution - coding silent
FANCD2ENSG00000144554ENST00000287647p.N920Sc.2759A>GSubstitution - Missense
FANCD2ENSG00000144554ENST00000419585p.N920Sc.2759A>GSubstitution - Missense
CTU2ENSG00000174177ENST00000312060p.?c.1098-1G>AUnknown
ZNF597ENSG00000167981ENST00000301744p.R203Rc.609G>ASubstitution - coding silent
ZNF880ENSG00000221923ENST00000422689p.M36Tc.107T>CSubstitution - Missense
ZNF841ENSG00000197608ENST00000389534p.?c.15+2T>CUnknown
PIRTENSG00000233670ENST00000580256p.E50Qc.148G>CSubstitution - Missense
ANKRD11ENSG00000167522ENST00000301030p.R1723Rc.5169G>ASubstitution - coding silent
SERPINB4ENSG00000206073ENST00000341074p.H82Rc.245A>GSubstitution - Missense
CCBE1ENSG00000183287ENST00000439986p.?c.266-5T>CUnknown
ZCCHC2ENSG00000141664ENST00000269499p.V1116Ic.3346G>ASubstitution - Missense
POLIENSG00000101751ENST00000579534p.S589Fc.1766C>TSubstitution - Missense
NM_007195.1p.S564Fc.1691C>TSubstitution - Missense
SKA1ENSG00000154839ENST00000285116p.K36Nc.108A>CSubstitution - Missense
EPG5ENSG00000152223ENST00000282041p.V2377Ic.7129G>ASubstitution - Missense
NLRP7ENSG00000167634ENST00000448121p.E603Ac.1808A>CSubstitution - Missense
TMEM241ENSG00000134490ENST00000383233p.?c.671+7G>AUnknown
POTECENSG00000183206ENST00000358970p.S89Pc.265T>CSubstitution - Missense
ANKRD62ENSG00000181626ENST00000314074p.?c.1198+3A>GUnknown
XKR3ENSG00000172967ENST00000331428p.S330Sc.990A>GSubstitution - coding silent
DNMT3BENSG00000088305ENST00000328111p.V138Mc.412G>ASubstitution - Missense
DNMT3BENSG00000088305ENST00000201963p.V150Mc.448G>ASubstitution - Missense
FOXS1ENSG00000179772ENST00000375978p.R286Qc.857G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.M24346Tc.73037T>CSubstitution - Missense
NM_003319p.M24154Tc.72461T>CSubstitution - Missense
ENSG00000091436ENST00000338983p.E355Ec.1065G>ASubstitution - coding silent
ENST00000356127p.L20192Pc.60575T>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.L13889Pc.41666T>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.G22128Gc.66384C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.G15756Gc.47268C>TSubstitution - coding silent
ENST00000356127p.G22126Gc.66378C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.G15823Gc.47469C>TSubstitution - coding silent
NOD2ENSG00000167207ENST00000300589p.R634Gc.1900A>GSubstitution - Missense
KRTAP1-1ENSG00000188581ENST00000306271p.F57Cc.170T>GSubstitution - Missense
KRT26ENSG00000186393ENST00000335552p.I425Ic.1275T>CSubstitution - coding silent
P2RX1ENSG00000108405ENST00000225538p.G143Vc.428G>TSubstitution - Missense
SCAF4ENSG00000156304ENST00000286835p.P723_F724insPc.2165_2166insTCCInsertion - In frame
QARSENSG00000172053ENST00000306125p.?c.2151+1G>CUnknown
ATP8A1ENSG00000124406ENST00000381668p.I772Vc.2314A>GSubstitution - Missense
ARAP2ENSG00000047365ENST00000303965p.S111Gc.331A>GSubstitution - Missense
PCBP4ENSG00000090097ENST00000461554p.?c.106-10C>TUnknown
HYAL3ENSG00000186792ENST00000336307p.P413Lc.1238C>TSubstitution - Missense
BSNENSG00000164061ENST00000296452p.P3514Lc.10541C>TSubstitution - Missense
BTN3A3ENSG00000111801ENST00000244519p.?c.716-4G>AUnknown
MBOAT1ENSG00000172197ENST00000324607p.?c.531-4A>GUnknown
MGAMENSG00000257335ENST00000549489p.S374Yc.1121C>ASubstitution - Missense
MGAMENSG00000257335ENST00000475668p.S374Yc.1121C>ASubstitution - Missense
MGAMENSG00000257335ENST00000549489p.S374Yc.1121C>ASubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.P1034Lc.3101C>TSubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.P1034Lc.3101C>TSubstitution - Missense
ASAH1ENSG00000104763ENST00000262097p.T273Sc.818C>GSubstitution - Missense
ASAH1ENSG00000104763ENST00000314146p.T267Sc.800C>GSubstitution - Missense
DSG1ENSG00000134760ENST00000257192p.G972Gc.2916T>CSubstitution - coding silent
METTL4ENSG00000101574ENST00000574538p.L163Sc.488T>CSubstitution - Missense
HRH4ENSG00000134489ENST00000256906p.S247Cc.740C>GSubstitution - Missense
SYT4ENSG00000132872ENST00000255224p.V359Fc.1075G>TSubstitution - Missense
ELP2ENSG00000134759ENST00000358232p.?c.1630+6A>GUnknown
ELP2ENSG00000134759ENST00000350494p.?c.1615+6A>GUnknown
ASXL3ENSG00000141431ENST00000269197p.E2208Ec.6624A>GSubstitution - coding silent
MAST1ENSG00000105613ENST00000251472p.S346Tc.1037G>CSubstitution - Missense
UMODL1ENSG00000177398ENST00000408989p.A968Gc.2903C>GSubstitution - Missense
UMODL1ENSG00000177398ENST00000400424p.A768Gc.2303C>GSubstitution - Missense
GPAT2ENSG00000186281ENST00000359548p.P569Lc.1706C>TSubstitution - Missense
RPIAENSG00000153574ENST00000283646p.G5Gc.15G>CSubstitution - coding silent
ART3ENSG00000156219ENST00000349321p.G261Ac.782G>CSubstitution - Missense
PNKPENSG00000039650ENST00000322344p.?c.1030-8C>TUnknown
CNBD2ENSG00000149646ENST00000349339p.F155Fc.465C>TSubstitution - coding silent
SYCP2ENSG00000196074ENST00000357552p.M176Tc.527T>CSubstitution - Missense
GNASENSG00000087460ENST00000371100p.E310Ec.930G>ASubstitution - coding silent
CYP24A1ENSG00000019186ENST00000216862p.M99Ic.297G>ASubstitution - Missense
CASS4ENSG00000087589ENST00000360314p.A604Gc.1811C>GSubstitution - Missense
PODXLENSG00000128567ENST00000378555p.L500Pc.1499T>CSubstitution - Missense
PAX4ENSG00000106331ENST00000341640p.P261Sc.781C>TSubstitution - Missense
OPN1SWENSG00000128617ENST00000249389p.L128Lc.384G>ASubstitution - coding silent
DNAJB5ENSG00000137094ENST00000453597p.R268Mc.803G>TSubstitution - Missense
DNAJB5ENSG00000137094ENST00000312316p.R154Mc.461G>TSubstitution - Missense
ENST00000377290p.G36*c.106G>TSubstitution - Nonsense
CSMD1ENSG00000183117ENST00000539096p.T2107Sc.6319A>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.?c.6032-5C>TUnknown
TANC2ENSG00000170921ENST00000389520p.L995Pc.2984T>CSubstitution - Missense
ENST00000389520_v65p.L995Pc.2984T>CSubstitution - Missense
ALOX12BENSG00000179477ENST00000319144p.C366Cc.1098C>TSubstitution - coding silent
TENM1ENSG00000009694ENST00000371130p.G1954Sc.5860G>ASubstitution - Missense
GRIA3ENSG00000125675ENST00000264357p.T114Tc.342C>ASubstitution - coding silent
ENST00000331986p.H6874Qc.20622T>ASubstitution - Missense
HNRNPMENSG00000099783ENST00000325495p.E102Kc.304G>ASubstitution - Missense
CLEC4MENSG00000104938ENST00000327325p.D384Hc.1150G>CSubstitution - Missense
INSRENSG00000171105ENST00000302850p.D949Yc.2845G>TSubstitution - Missense
RAI1ENSG00000108557ENST00000353383p.L1685Fc.5053C>TSubstitution - Missense
LRRC48ENSG00000171962ENST00000411504p.L46Lc.138G>TSubstitution - coding silent
CCDC144AENSG00000170160ENST00000456009p.T863Tc.2589G>ASubstitution - coding silent
ZNF257ENSG00000197134ENST00000435820p.H167Hc.501T>CSubstitution - coding silent
GPIENSG00000105220ENST00000356487p.S131Cc.392C>GSubstitution - Missense
TDRD12ENSG00000173809ENST00000444215p.R141Qc.422G>ASubstitution - Missense
TDRD12ENSG00000173809ENST00000444215p.S879Sc.2637A>CSubstitution - coding silent
ZNF726ENSG00000213967ENST00000322487p.E648Qc.1942G>CSubstitution - Missense
LILRA4ENSG00000239961ENST00000291759p.P212Pc.636C>GSubstitution - coding silent
NUP62ENSG00000213024ENST00000352066p.S216Nc.647G>ASubstitution - Missense
PNKPENSG00000039650ENST00000322344p.?c.1030-8C>TUnknown
DNAAF1ENSG00000154099ENST00000378553p.V575Ic.1723G>ASubstitution - Missense
TTLL6ENSG00000170703ENST00000433608p.I49Vc.145A>GSubstitution - Missense
ENST00000305326p.I34Vc.100A>GSubstitution - Missense
TTLL6ENSG00000170703ENST00000393382p.I308Vc.922A>GSubstitution - Missense
PDYNENSG00000101327ENST00000217305p.K97*c.289A>TSubstitution - Nonsense
SIRPB1ENSG00000101307ENST00000381605p.I232Ic.696C>TSubstitution - coding silent
ZNF266ENSG00000174652ENST00000361151p.Q310Ec.928C>GSubstitution - Missense
ZNF812ENSG00000224689ENST00000457674p.H332Lc.995A>TSubstitution - Missense
ZNF812ENSG00000224689ENST00000457674p.C198Yc.593G>ASubstitution - Missense
GLSENSG00000115419ENST00000320717p.D585Vc.1754A>TSubstitution - Missense
WDR75ENSG00000115368ENST00000314761p.R228Cc.682C>TSubstitution - Missense
ZSWIM2ENSG00000163012ENST00000295131p.P559Pc.1677T>GSubstitution - coding silent
TNS1ENSG00000079308ENST00000171887p.L712Lc.2136C>TSubstitution - coding silent
ABCA12ENSG00000144452ENST00000272895p.I2316fs*17c.6945delGDeletion - Frameshift
APOBENSG00000084674ENST00000233242p.T3626Sc.10877C>GSubstitution - Missense
CPS1ENSG00000021826ENST00000430249p.A741Ac.2223A>GSubstitution - coding silent
PTH2RENSG00000144407ENST00000272847p.A304Tc.910G>ASubstitution - Missense
C2orf43ENSG00000118961ENST00000237822p.N218Sc.653A>GSubstitution - Missense
TRPC5ENSG00000072315ENST00000262839p.R697Kc.2090G>ASubstitution - Missense
NKAIN3ENSG00000185942ENST00000523211p.D176Nc.526G>ASubstitution - Missense
NM_003928.1p.R10Wc.28C>TSubstitution - Missense
HS6ST2ENSG00000171004ENST00000406696p.F12Vc.34T>GSubstitution - Missense
ST6GALNAC3ENSG00000184005ENST00000328299p.R249Gc.745A>GSubstitution - Missense
C1orf173ENSG00000178965ENST00000326665p.T1303Pc.3907A>CSubstitution - Missense
IL12RB2ENSG00000081985ENST00000262345p.G136Ac.407G>CSubstitution - Missense
KCNH5ENSG00000140015ENST00000322893p.V232Ic.694G>ASubstitution - Missense
SAMD4AENSG00000020577ENST00000357634p.E113Vc.338A>TSubstitution - Missense
CLCA2ENSG00000137975ENST00000370565p.?c.2156-2A>GUnknown
ATXN3ENSG00000066427ENST00000393287p.Q305_G306insQQQQQc.883_884ins15Insertion - In frame
TLE3ENSG00000140332ENST00000558939p.V549Vc.1647G>ASubstitution - coding silent
SACSENSG00000151835ENST00000382298p.E3816Ec.11448A>GSubstitution - coding silent
NM_014363.3p.E3669Ec.11007A>GSubstitution - coding silent
TMCO3ENSG00000150403ENST00000434316p.A19Ac.57G>ASubstitution - coding silent
INO80ENSG00000128908ENST00000361937p.L702Sc.2105T>CSubstitution - Missense
MLKLENSG00000168404ENST00000308807p.K233Ec.697A>GSubstitution - Missense
WDR70ENSG00000082068ENST00000265107p.S84Tc.250T>ASubstitution - Missense
WDR70ENSG00000082068ENST00000265107p.S85delSc.250_252delTCCDeletion - In frame
C5orf42ENSG00000197603ENST00000425232p.D2890Ec.8670C>ASubstitution - Missense
C5orf42ENSG00000197603ENST00000425232p.S2629Sc.7887G>ASubstitution - coding silent
XM_046751.7p.R1251Rc.3751C>ASubstitution - coding silent
RNF186ENSG00000178828ENST00000375121p.A104Vc.311C>TSubstitution - Missense
CACNA1SENSG00000081248ENST00000362061p.I639Vc.1915A>GSubstitution - Missense
GON4LENSG00000116580ENST00000437809p.R2195Hc.6584G>ASubstitution - Missense
GON4LENSG00000116580ENST00000437809p.P717Lc.2150C>TSubstitution - Missense
GON4LENSG00000116580ENST00000361040p.P717Lc.2150C>TSubstitution - Missense
SCG3ENSG00000104112ENST00000220478p.V448Mc.1342G>ASubstitution - Missense
SLC26A9ENSG00000174502ENST00000367134p.S459Rc.1377C>ASubstitution - Missense
SLC26A9ENSG00000174502ENST00000367135p.S459Rc.1377C>ASubstitution - Missense
GRM5ENSG00000168959ENST00000305432p.R26Rc.76A>CSubstitution - coding silent
NRIP3ENSG00000175352ENST00000309166p.V172Lc.514G>CSubstitution - Missense
TMEM135ENSG00000166575ENST00000305494p.K119Kc.357A>GSubstitution - coding silent
STK33ENSG00000130413ENST00000447869p.A223Ac.669A>TSubstitution - coding silent
STK33ENSG00000130413ENST00000447869p.A223Ac.669A>TSubstitution - coding silent
NARG2ENSG00000128915ENST00000261520p.K187fs*64c.556_557insTInsertion - Frameshift
PRAMEF10ENSG00000187545ENST00000235347p.G453Sc.1357G>ASubstitution - Missense
STX2ENSG00000111450ENST00000261653p.D161Dc.483C>TSubstitution - coding silent
OR2L5ENSG00000197454ENST00000355281p.L42Pc.125T>CSubstitution - Missense
OR2M3ENSG00000228198ENST00000456743p.F103Lc.309C>GSubstitution - Missense
ATAD3CENSG00000215915ENST00000378785p.?c.690-4A>GUnknown
INADLENSG00000132849ENST00000543708p.G32Rc.94G>ASubstitution - Missense
NPHP4ENSG00000131697ENST00000378156p.T477Ac.1429A>GSubstitution - Missense
HOOK1ENSG00000134709ENST00000371208p.R337Cc.1009C>TSubstitution - Missense
C1orf168ENSG00000187889ENST00000343433p.Q17*c.49C>TSubstitution - Nonsense
C8BENSG00000021852ENST00000371237p.E391Kc.1171G>ASubstitution - Missense
OR2T27ENSG00000187701ENST00000344889p.K45Tc.134A>CSubstitution - Missense
VPS13DENSG00000048707ENST00000358136p.A2863Ac.8589C>ASubstitution - coding silent
SPTBN5ENSG00000137877ENST00000320955p.L2077Lc.6231G>ASubstitution - coding silent
NADKENSG00000008130ENST00000341991p.P93Pc.279C>TSubstitution - coding silent
PPAP2BENSG00000162407ENST00000371250p.D248Ec.744C>ASubstitution - Missense
USP24ENSG00000162402ENST00000294383p.D1191Dc.3573T>CSubstitution - coding silent
C1orf123ENSG00000162384ENST00000294360p.A144Ac.432C>TSubstitution - coding silent
CC2D1BENSG00000154222ENST00000371586p.V619Vc.1857G>ASubstitution - coding silent
COA7ENSG00000162377ENST00000371538p.D35Dc.105C>TSubstitution - coding silent
ECHDC2ENSG00000121310ENST00000371522p.L96Lc.288G>CSubstitution - coding silent
SCP2ENSG00000116171ENST00000371514p.C307Cc.921C>TSubstitution - coding silent
FRMD6ENSG00000139926ENST00000344768p.R519Hc.1556G>ASubstitution - Missense
FAM179BENSG00000198718ENST00000361577p.V1111Ic.3331G>ASubstitution - Missense
PNNENSG00000100941ENST00000216832p.L45Pc.134T>CSubstitution - Missense
PKP2ENSG00000057294ENST00000070846p.K514Ic.1541A>TSubstitution - Missense
OVCH1ENSG00000187950ENST00000318184p.?c.1070-8G>AUnknown
LYSMD4ENSG00000183060ENST00000344791p.S139Sc.417C>TSubstitution - coding silent
LINSENSG00000140471ENST00000314742p.S619Sc.1857C>GSubstitution - coding silent
ALG10ENSG00000139133ENST00000266483p.P120fs*27c.358_359delCCDeletion - Frameshift
CNTN2ENSG00000184144ENST00000331830p.V778Vc.2334C>TSubstitution - coding silent
XM_046751.7p.D213Nc.637G>ASubstitution - Missense
RBP3ENSG00000107618ENST00000224600p.A590Ac.1770G>ASubstitution - coding silent
PCDH15ENSG00000150275ENST00000361849p.G68Gc.204A>GSubstitution - coding silent
PCDH15ENSG00000150275ENST00000395438p.G68Gc.204A>GSubstitution - coding silent
ENST00000417177p.G73Gc.219A>GSubstitution - coding silent
ANKRD16ENSG00000134461ENST00000380092p.?c.688-9G>AUnknown
NOTCH2ENSG00000134250ENST00000256646p.K788Tc.2363A>CSubstitution - Missense
B3GNT4ENSG00000176383ENST00000324189p.Q201Hc.603G>CSubstitution - Missense
ECM1ENSG00000143369ENST00000369047p.P289Pc.867T>CSubstitution - coding silent
SLC1A2ENSG00000110436ENST00000278379p.R17Qc.50G>ASubstitution - Missense
AMY2AENSG00000243480ENST00000414303p.S58Fc.173C>TSubstitution - Missense
OVGP1ENSG00000085465ENST00000369732p.E667Kc.1999G>ASubstitution - Missense
ENST00000369728p.E731Kc.2191G>ASubstitution - Missense
HAGHENSG00000063854ENST00000397356p.A88Ac.264G>TSubstitution - coding silent
DDX59ENSG00000118197ENST00000367348p.A552Tc.1654G>ASubstitution - Missense
ASPMENSG00000066279ENST00000367409p.A2818Sc.8452G>TSubstitution - Missense
ASPMENSG00000066279ENST00000367409p.K2593Ec.7777A>GSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.Y5068*c.15204T>ASubstitution - Nonsense
TPRENSG00000047410ENST00000367478p.?c.6113-4A>GUnknown
CUBNENSG00000107611ENST00000377833p.T2797Mc.8390C>TSubstitution - Missense
HS3ST6ENSG00000162040ENST00000443547p.R130Gc.388C>GSubstitution - Missense
SV2BENSG00000185518ENST00000394232p.A250Vc.749C>TSubstitution - Missense
LTBP2ENSG00000119681ENST00000261978p.F720Fc.2160C>TSubstitution - coding silent
C10orf128ENSG00000204161ENST00000374151p.?c.451-2A>TUnknown
ENST00000426033p.A609Sc.1825G>TSubstitution - Missense
GOLGA8HENSG00000261794ENST00000566740p.S230Sc.690A>TSubstitution - coding silent
ENST00000563027_v68p.S553Fc.1658C>TSubstitution - Missense
MEAF6ENSG00000163875ENST00000373075p.K196Kc.588A>GSubstitution - coding silent
LRRC52ENSG00000162763ENST00000294818p.S125Gc.373A>GSubstitution - Missense
UAP1ENSG00000117143ENST00000367926p.Q348Hc.1044G>CSubstitution - Missense
FCGR2AENSG00000143226ENST00000367972p.V204Vc.612C>TSubstitution - coding silent
COPAENSG00000122218ENST00000241704p.K825Qc.2473A>CSubstitution - Missense
SEC16BENSG00000120341ENST00000308284p.P1059Rc.3176C>GSubstitution - Missense
ENST00000263528p.E1193*c.3577G>TSubstitution - Nonsense
LSP1ENSG00000130592ENST00000311604p.P8Lc.23C>TSubstitution - Missense
MRGPRX2ENSG00000183695ENST00000329773p.V255Ic.763G>ASubstitution - Missense
SAAL1ENSG00000166788ENST00000524803p.V472Ic.1414G>ASubstitution - Missense
AMICA1ENSG00000160593ENST00000292067p.E132Kc.394G>ASubstitution - Missense
TMEM19ENSG00000139291ENST00000266673p.T240Ac.718A>GSubstitution - Missense
TMEM19ENSG00000139291ENST00000549735p.T240Ac.718A>GSubstitution - Missense
ENST00000282251_v68p.P772Sc.2314C>TSubstitution - Missense
CWF19L2ENSG00000152404ENST00000282251p.P618Sc.1852C>TSubstitution - Missense
DYNC2H1ENSG00000187240ENST00000398093p.W1692Cc.5076G>TSubstitution - Missense
DYNC2H1ENSG00000187240ENST00000334267p.W865Cc.2595G>TSubstitution - Missense
DDI1ENSG00000170967ENST00000302259p.E189Kc.565G>ASubstitution - Missense
DPAGT1ENSG00000172269ENST00000354202p.L134Qc.401T>ASubstitution - Missense
USP47ENSG00000170242ENST00000339865p.Q48Hc.144A>CSubstitution - Missense
NAV2ENSG00000166833ENST00000360655p.V2045Dc.6134T>ASubstitution - Missense
GSTM5ENSG00000134201ENST00000369813p.G3Gc.9G>TSubstitution - coding silent
EPS8L3ENSG00000198758ENST00000369805p.S90Sc.270T>CSubstitution - coding silent
FNDC7ENSG00000143107ENST00000370017p.T247Nc.740C>ASubstitution - Missense
ENST00000336486p.V124Vc.372G>ASubstitution - coding silent
CWF19L1ENSG00000095485ENST00000354105p.M246Vc.736A>GSubstitution - Missense
KLRK1ENSG00000213809ENST00000240618p.C203Wc.609T>GSubstitution - Missense
STAB2ENSG00000136011ENST00000388887p.G934Rc.2800G>ASubstitution - Missense
SYCP3ENSG00000139351ENST00000392924p.?c.454-10A>CUnknown
TMEM52BENSG00000165685ENST00000298530p.S79Rc.237C>ASubstitution - Missense
UHRF1BP1LENSG00000111647ENST00000279907p.Q700*c.2098C>TSubstitution - Nonsense
ANKRD49ENSG00000168876ENST00000302755p.L178Lc.534G>ASubstitution - coding silent
FUT4ENSG00000196371ENST00000358752p.G389Gc.1167C>TSubstitution - coding silent
RPAP3ENSG00000005175ENST00000005386p.S110Sc.330T>CSubstitution - coding silent
CNTN1ENSG00000018236ENST00000551295p.?c.2824-1G>AUnknown
UFM1ENSG00000120686ENST00000239878p.G64Gc.192A>CSubstitution - coding silent
SOHLH2ENSG00000120669ENST00000379881p.H96Hc.288T>CSubstitution - coding silent
RXFP2ENSG00000133105ENST00000298386p.L10Ic.28C>ASubstitution - Missense
CENPJENSG00000151849ENST00000381884p.M21Lc.61A>TSubstitution - Missense
RABGAP1LENSG00000152061ENST00000251507p.P107Qc.320C>ASubstitution - Missense
FMO4ENSG00000076258ENST00000367749p.W490Rc.1468T>ASubstitution - Missense
TRPC4ENSG00000133107ENST00000379681p.L269Pc.806T>CSubstitution - Missense
ENST00000326544p.I470Tc.1409T>CSubstitution - Missense
TMEM54ENSG00000121900ENST00000373463p.V46Mc.136G>ASubstitution - Missense
VANGL2ENSG00000162738ENST00000368061p.R105Hc.314G>ASubstitution - Missense
LRRC27ENSG00000148814ENST00000368614p.A458Tc.1372G>ASubstitution - Missense
OR4M1ENSG00000176299ENST00000315957p.I248Vc.742A>GSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.K1840Ec.5518A>GSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.K2812Rc.8435A>GSubstitution - Missense
GIFENSG00000134812ENST00000257248p.H382Nc.1144C>ASubstitution - Missense
OR52E8ENSG00000183269ENST00000537935p.I179Ic.537C>TSubstitution - coding silent
OR5A1ENSG00000172320ENST00000302030p.P136Sc.406C>TSubstitution - Missense
DCAF11ENSG00000100897ENST00000559115p.S426Rc.1276A>CSubstitution - Missense
CPNE6ENSG00000100884ENST00000397016p.K274Kc.822G>ASubstitution - coding silent
PRMT5ENSG00000100462ENST00000397441p.?c.179-10G>AUnknown
PSMB5ENSG00000100804ENST00000361611p.H69Rc.206A>GSubstitution - Missense
CTSFENSG00000174080ENST00000310325p.P338Ac.1012C>GSubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.S5031Nc.15092G>ASubstitution - Missense
VWCEENSG00000167992ENST00000335613p.P303Lc.908C>TSubstitution - Missense
ZP1ENSG00000149506ENST00000278853p.P402Hc.1205C>ASubstitution - Missense
KMOENSG00000117009ENST00000366559p.K29Tc.86A>CSubstitution - Missense
KMOENSG00000117009ENST00000366559p.D35Dc.105T>CSubstitution - coding silent
C10orf82ENSG00000165863ENST00000369210p.C38Cc.114T>CSubstitution - coding silent
ENST00000388884p.C38Cc.114T>CSubstitution - coding silent
KCNK18ENSG00000186795ENST00000334549p.A299Vc.896C>TSubstitution - Missense
GNPATENSG00000116906ENST00000366647p.N648Kc.1944T>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.G8143Cc.24427G>TSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.P5319Lc.15956C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.P4607Lc.13820C>TSubstitution - Missense
CACNA2D4ENSG00000151062ENST00000382722p.L727Lc.2181G>ASubstitution - coding silent
GOLGA3ENSG00000090615ENST00000204726p.A1022Tc.3064G>ASubstitution - Missense
HEATR1ENSG00000119285ENST00000366582p.H1090Rc.3269A>GSubstitution - Missense
KRT83ENSG00000170523ENST00000293670p.R332Lc.995G>TSubstitution - Missense
IL18BPENSG00000137496ENST00000337131p.V76Ac.227T>CSubstitution - Missense
GOLGA6L18ENSG00000215749ENST00000559949p.V159Vc.477G>ASubstitution - coding silent
FRMD4AENSG00000151474ENST00000342409p.T397Tc.1191G>ASubstitution - coding silent
BEND7ENSG00000165626ENST00000341083p.F432Sc.1295T>CSubstitution - Missense
PLAUENSG00000122861ENST00000372764p.K263Ec.787A>GSubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.?c.4506+10C>TUnknown
PLCE1ENSG00000138193ENST00000371375p.?c.3582+10C>TUnknown
CYP26A1ENSG00000095596ENST00000371531p.N341Kc.1023C>ASubstitution - Missense
BTAF1ENSG00000095564ENST00000265990p.D171Dc.513T>CSubstitution - coding silent
NRG3ENSG00000185737ENST00000372141p.S203Gc.607A>GSubstitution - Missense
SIAEENSG00000110013ENST00000263593p.P4Lc.11C>TSubstitution - Missense
OR10G6ENSG00000198674ENST00000307002p.S110Nc.329G>ASubstitution - Missense
ENST00000371192_v61p.N1159Tc.3476A>CSubstitution - Missense
ENST00000371192p.N1159Tc.3476A>CSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.G4185Rc.12553G>CSubstitution - Missense
IQGAP3ENSG00000183856ENST00000361170p.A1410Vc.4229C>TSubstitution - Missense
OR51F1ENSG00000188069ENST00000343430p.G267Sc.799G>ASubstitution - Missense
GLI1ENSG00000111087ENST00000228682p.G1022fs*38c.3061delGDeletion - Frameshift
PYHIN1ENSG00000163564ENST00000368140p.M218Ic.654G>TSubstitution - Missense
DNAJC16ENSG00000116138ENST00000375847p.R4Sc.12A>CSubstitution - Missense
ENST00000368148p.K1664*c.4990A>TSubstitution - Nonsense
OTOGLENSG00000165899ENST00000458043p.H24Lc.71A>TSubstitution - Missense
SLC2A3ENSG00000059804ENST00000075120p.H425Yc.1273C>TSubstitution - Missense
E2F7ENSG00000165891ENST00000322886p.N672Dc.2014A>GSubstitution - Missense
CTDSP2ENSG00000175215ENST00000398073p.R46Hc.137G>ASubstitution - Missense
NFE2ENSG00000123405ENST00000312156p.?c.114+10G>AUnknown
VWA8ENSG00000102763ENST00000379310p.C1743Cc.5229T>CSubstitution - coding silent
MVKENSG00000110921ENST00000228510p.V109Lc.325G>CSubstitution - Missense
RFX4ENSG00000111783ENST00000357881p.E232Qc.694G>CSubstitution - Missense
HECTD4ENSG00000173064ENST00000377560p.V1225Lc.3673G>CSubstitution - Missense
ENST00000377560_v62p.V1475Lc.4423G>CSubstitution - Missense
FAM21CENSG00000172661ENST00000374362p.S423Fc.1268C>TSubstitution - Missense
ANKRD30AENSG00000148513ENST00000361713p.E266Gc.797A>GSubstitution - Missense
ANKRD30AENSG00000148513ENST00000361713p.S866Yc.2597C>ASubstitution - Missense
ANKRD30AENSG00000148513ENST00000602533p.L1301Pc.3902T>CSubstitution - Missense
PARD3ENSG00000148498ENST00000374789p.G985Rc.2953G>CSubstitution - Missense
SVILENSG00000197321ENST00000355867p.P196Qc.587C>ASubstitution - Missense
KIAA1462ENSG00000165757ENST00000375377p.S3Tc.8G>CSubstitution - Missense
WDR26ENSG00000162923ENST00000414423p.V330Vc.990G>TSubstitution - coding silent
HSPG2ENSG00000142798ENST00000374695p.A3137Ac.9411C>TSubstitution - coding silent
MIA3ENSG00000154305ENST00000344922p.H462Yc.1384C>TSubstitution - Missense
LRIT1ENSG00000148602ENST00000372105p.P384Lc.1151C>TSubstitution - Missense
DLG5ENSG00000151208ENST00000372391p.P1052Pc.3156C>GSubstitution - coding silent
CSMD3ENSG00000164796ENST00000297405p.F2040Lc.6118T>CSubstitution - Missense
GPR141ENSG00000187037ENST00000334425p.E267Kc.799G>ASubstitution - Missense
GRM4ENSG00000124493ENST00000374181p.D245Dc.735C>TSubstitution - coding silent
GRM4ENSG00000124493ENST00000374177p.D176Dc.528C>TSubstitution - coding silent
NADKENSG00000008130ENST00000344463p.E590delEc.1769_1771delAGGDeletion - In frame
NRXN1ENSG00000179915ENST00000404971p.T819Tc.2457G>ASubstitution - coding silent
SYNMENSG00000182253ENST00000336292p.P1301Lc.3902C>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.H179Rc.536A>GSubstitution - Missense
NTRK3ENSG00000140538ENST00000394480p.V21Fc.61G>TSubstitution - Missense
NTRK3ENSG00000140538ENST00000317501p.V21Fc.61G>TSubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.M1219Vc.3655A>GSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.S1630Fc.4889C>TSubstitution - Missense
C1orf116ENSG00000182795ENST00000359470p.S493Gc.1477A>GSubstitution - Missense
ENST00000375089p.G466Gc.1398C>TSubstitution - coding silent
MYO9AENSG00000066933ENST00000356056p.R985Rc.2955G>ASubstitution - coding silent
CYLDENSG00000083799ENST00000311559p.L773Lc.2319G>ASubstitution - coding silent
PKN3ENSG00000160447ENST00000291906p.Y664Cc.1991A>GSubstitution - Missense
SAFBENSG00000160633ENST00000292123p.V144Ic.430G>ASubstitution - Missense
TP53ENSG00000141510ENST00000413465p.H179Rc.536A>GSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.H179Rc.536A>GSubstitution - Missense
ENST00000545858p.H86Rc.257A>GSubstitution - Missense
ABCA4ENSG00000198691ENST00000370225p.L1259Ic.3775C>ASubstitution - Missense
ENST00000343819p.V90Lc.268G>CSubstitution - Missense
GDF2ENSG00000128802ENST00000249598p.T97Tc.291G>ASubstitution - coding silent
CDH4ENSG00000179242ENST00000360469p.C623Cc.1869C>TSubstitution - coding silent
ENST00000349637p.G4140Rc.12418G>CSubstitution - Missense
KELENSG00000197993ENST00000355265p.L642Ic.1924C>ASubstitution - Missense
RPL3LENSG00000140986ENST00000268661p.N186Nc.558C>TSubstitution - coding silent


COSMIC

1 mutations reported
1 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
TERTENSG00000164362ENST00000310581p.?c.1-146C>TUnknown23833040