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CAL-51 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1684 mutations reported
526 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
PODXL2ENSG00000114631ENST00000342480p.G73Wc.217G>TSubstitution - Missense
MAPK4ENSG00000141639ENST00000400384p.V104Ic.310G>ASubstitution - Missense
ANAPC1ENSG00000153107ENST00000341068p.T537Ac.1609A>GSubstitution - Missense
PAPLNENSG00000100767ENST00000427855p.R1060Qc.3179G>ASubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.G699fs*125c.2096delGDeletion - Frameshift
FCHO2ENSG00000157107ENST00000430046p.N15fs*11c.38delADeletion - Frameshift
CCDC37ENSG00000163885ENST00000352312p.T369fs*36c.1098delCDeletion - Frameshift
CEP76ENSG00000101624ENST00000262127p.T99fs*90c.295delADeletion - Frameshift
ZFC3H1ENSG00000133858ENST00000378743p.K385fs*9c.1155delADeletion - Frameshift
NOL4ENSG00000101746ENST00000261592p.R101Wc.301C>TSubstitution - Missense
KIAA1958ENSG00000165185ENST00000337530p.R487Hc.1460G>ASubstitution - Missense
ZNF687ENSG00000143373ENST00000324048p.H733fs*30c.2191delCDeletion - Frameshift
LBRENSG00000143815ENST00000272163p.V317Ic.949G>ASubstitution - Missense
MIS18BP1ENSG00000129534ENST00000310806p.N380fs*3c.1139delADeletion - Frameshift
PIK3CAENSG00000121879ENST00000263967p.E542Kc.1624G>ASubstitution - Missense
ENSG00000170276ENST00000304298p.R131*c.391C>TSubstitution - Nonsense
SU_EPHA6p.R88Hc.263G>ASubstitution - Missense
PTENENSG00000171862ENST00000371953p.E288fs*3c.863delADeletion - Frameshift
TRPM6ENSG00000119121ENST00000360774p.E1150Ec.3450G>ASubstitution - coding silent
PTENENSG00000171862ENST00000371953p.N323fs*2c.962_963insAInsertion - Frameshift
SNUPNENSG00000169371ENST00000308588p.R44Hc.131G>ASubstitution - Missense
CLK3ENSG00000179335ENST00000395066p.L422Vc.1264C>GSubstitution - Missense
CYP1A2ENSG00000140505ENST00000343932p.I401Tc.1202T>CSubstitution - Missense
PKMENSG00000067225ENST00000319622p.?c.1489+5G>AUnknown
ITGA7ENSG00000135424ENST00000553804p.Q496Qc.1488G>ASubstitution - coding silent
SP1ENSG00000185591ENST00000327443p.G652Dc.1955G>ASubstitution - Missense
PROX1ENSG00000117707ENST00000498508p.R236Hc.707G>ASubstitution - Missense
IL20ENSG00000162891ENST00000367098p.R107Wc.319C>TSubstitution - Missense
HIST1H2BOENSG00000196331ENST00000303806p.Q23Qc.69G>ASubstitution - coding silent
CEP44ENSG00000164118ENST00000296519p.M265fs*1c.788delADeletion - Frameshift
MUC4ENSG00000145113ENST00000463781p.V3742Ic.11224G>ASubstitution - Missense
ENST00000405167p.A3742Tc.11224G>ASubstitution - Missense
PCDHGA5ENSG00000253485ENST00000518069p.E647Kc.1939G>ASubstitution - Missense
LASP1ENSG00000002834ENST00000318008p.D225Dc.675C>TSubstitution - coding silent
ZIC4ENSG00000174963ENST00000525172p.R301Hc.902G>ASubstitution - Missense
ZIC4ENSG00000174963ENST00000383075p.R251Hc.752G>ASubstitution - Missense
PCLOENSG00000186472ENST00000333891p.K2373fs*2c.7118delADeletion - Frameshift
C7orf63ENSG00000105792ENST00000316089p.K624fs*5c.1865delADeletion - Frameshift
RPL12ENSG00000197958ENST00000361436p.V42fs*15c.123delADeletion - Frameshift
NSD1ENSG00000165671ENST00000439151p.M1531fs*43c.4585delADeletion - Frameshift
NSD1ENSG00000165671ENST00000439151p.M1531fs*43c.4585delADeletion - Frameshift
ZNF454ENSG00000178187ENST00000320129p.A34Tc.100G>ASubstitution - Missense
SLC16A10ENSG00000112394ENST00000368851p.I282fs*9c.837delADeletion - Frameshift
IRS1ENSG00000169047ENST00000305123p.H598fs*38c.1791delGDeletion - Frameshift
SLC4A11ENSG00000088836ENST00000380059p.V112fs*6c.333_334insTInsertion - Frameshift
SLC4A11ENSG00000088836ENST00000380056p.V85fs*6c.252_253insTInsertion - Frameshift
PREX1ENSG00000124126ENST00000396220p.P961Pc.2883G>ASubstitution - coding silent
SCN11AENSG00000168356ENST00000302328p.K491fs*5c.1472delADeletion - Frameshift
CPAMD8ENSG00000160111ENST00000291440p.R785fs*32c.2352delCDeletion - Frameshift
ZNF506ENSG00000081665ENST00000443905p.G116fs*5c.345delADeletion - Frameshift
SSC5DENSG00000179954ENST00000389623p.T649Mc.1946C>TSubstitution - Missense
IWS1ENSG00000163166ENST00000295321p.S802fs*7c.2404delADeletion - Frameshift
C15orf39ENSG00000167173ENST00000360639p.P474fs*91c.1415delCDeletion - Frameshift
SLC38A7ENSG00000103042ENST00000219320p.V357fs*38c.1069delGDeletion - Frameshift
ATN1ENSG00000111676ENST00000396684p.P255fs*43c.759delCDeletion - Frameshift
CTAGE5ENSG00000150527ENST00000280083p.L59fs*22c.169delTDeletion - Frameshift
ZBTB25ENSG00000089775ENST00000394715p.R94Hc.281G>ASubstitution - Missense
TMEM206ENSG00000065600ENST00000261455p.S277fs*22c.829delADeletion - Frameshift
TTKENSG00000112742ENST00000369798p.K857fs?c.2565delADeletion - Frameshift
SMARCA4ENSG00000127616ENST00000358026p.R885Hc.2654G>ASubstitution - Missense
CDKL3ENSG00000006837ENST00000265334p.W592fs*>2c.1772_1773insTInsertion - Frameshift
SSR3ENSG00000114850ENST00000265044p.A178Tc.532G>ASubstitution - Missense
CYP26A1ENSG00000095596ENST00000371531p.A176Vc.527C>TSubstitution - Missense
NM_014363.3p.K1570fs*8c.4710delADeletion - Frameshift
RIMS1ENSG00000079841ENST00000521978p.R310Hc.929G>ASubstitution - Missense
SNX25ENSG00000109762ENST00000504273p.N638fs*51c.1906delADeletion - Frameshift
ZCCHC6ENSG00000083223ENST00000375963p.Y948fs*16c.2842delTDeletion - Frameshift
BMP6ENSG00000153162ENST00000283147p.A451Tc.1351G>ASubstitution - Missense
ROR2ENSG00000169071ENST00000375708p.R706Qc.2117G>ASubstitution - Missense
NM_203407.1p.A240Tc.718G>ASubstitution - Missense
INTS1ENSG00000164880ENST00000389470p.A561Vc.1682C>TSubstitution - Missense
MAXENSG00000125952ENST00000284165p.R60Qc.179G>ASubstitution - Missense
TYW1ENSG00000198874ENST00000359626p.R546Hc.1637G>ASubstitution - Missense
DFNB31ENSG00000095397ENST00000362057p.R450Hc.1349G>ASubstitution - Missense
FAM170AENSG00000164334ENST00000335286p.E281Qc.841G>CSubstitution - Missense
PCDHGA5ENSG00000253485ENST00000518069p.E647Kc.1939G>ASubstitution - Missense
SBF2ENSG00000133812ENST00000256190p.S1323Lc.3968C>TSubstitution - Missense
C1SENSG00000182326ENST00000328916p.N406Nc.1218C>TSubstitution - coding silent
SEMA6CENSG00000143434ENST00000341697p.G267Gc.801C>TSubstitution - coding silent
ORC1ENSG00000085840ENST00000371568p.?c.1863+2T>CUnknown
NM_001380.2p.Y1055Yc.3165C>TSubstitution - coding silent
DYNC2H1ENSG00000187240ENST00000398093p.L1608Lc.4824T>CSubstitution - coding silent
DYNC2H1ENSG00000187240ENST00000334267p.L781Lc.2343T>CSubstitution - coding silent
RCBTB2ENSG00000136161ENST00000344532p.A283Tc.847G>ASubstitution - Missense
CELA1ENSG00000139610ENST00000293636p.S200Fc.599C>TSubstitution - Missense
SCN8AENSG00000196876ENST00000354534p.T1240Tc.3720C>TSubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.S518Sc.1554G>ASubstitution - coding silent
KMT2DENSG00000167548ENST00000301067p.S518Sc.1554G>ASubstitution - coding silent
NCKAP5LENSG00000167566ENST00000335999p.E267Kc.799G>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.R5214Hc.15641G>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.R4944Hc.14831G>ASubstitution - Missense
CACNA2D4ENSG00000151062ENST00000382722p.L977Lc.2929C>TSubstitution - coding silent
SLCO1B3ENSG00000111700ENST00000381545p.?c.84+10G>AUnknown
LYSTENSG00000143669ENST00000389793p.S143Sc.429C>TSubstitution - coding silent
PCNXL2ENSG00000135749ENST00000258229p.?c.3660-1G>AUnknown
CAPN9ENSG00000135773ENST00000354537p.R334Hc.1001G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.A6386fs*3c.19150_19151insGInsertion - Frameshift
SU_OBSCN.1p.A6256fs*3c.18760_18761insGInsertion - Frameshift
ZBTB40ENSG00000184677ENST00000404138p.A1198Tc.3592G>ASubstitution - Missense
TRIM17ENSG00000162931ENST00000456946p.E200delEc.597_599delAGADeletion - In frame
MFAP5ENSG00000197614ENST00000359478p.P6Hc.17C>ASubstitution - Missense
ATP2B1ENSG00000070961ENST00000359142p.D214Yc.640G>TSubstitution - Missense
DCTN2ENSG00000175203ENST00000434715p.I125fs*5c.373delADeletion - Frameshift
DCTN2ENSG00000175203ENST00000434715p.I125fs*5c.373delADeletion - Frameshift
DTX3ENSG00000178498ENST00000548804p.P143Pc.429C>TSubstitution - coding silent
GLI1ENSG00000111087ENST00000228682p.E228Ec.684G>ASubstitution - coding silent
ENST00000368148p.R994fs*5c.2980delCDeletion - Frameshift
SEMA4AENSG00000196189ENST00000368285p.C624*c.1872C>ASubstitution - Nonsense
MYBPC3ENSG00000134571ENST00000399249p.A517Vc.1550C>TSubstitution - Missense
DGKZENSG00000149091ENST00000454345p.?c.1207-1G>AUnknown
DGKZENSG00000149091ENST00000421244p.?c.643-1G>AUnknown
DGKZENSG00000149091ENST00000395574p.?c.541-1G>AUnknown
SLC37A2ENSG00000134955ENST00000308074p.A76Vc.227C>TSubstitution - Missense
CHEK1ENSG00000149554ENST00000438015p.L355fs*1c.1061delTDeletion - Frameshift
ROBO3ENSG00000154134ENST00000397801p.R292Hc.875G>ASubstitution - Missense
ROBO3ENSG00000154134ENST00000397801p.R292Hc.875G>ASubstitution - Missense
PI4K2AENSG00000155252ENST00000555577p.Q86Hc.258G>TSubstitution - Missense
TECTAENSG00000109927ENST00000392793p.T142Ic.425C>TSubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.T692Ic.2075C>TSubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.T692Ic.2075C>TSubstitution - Missense
ENST00000371192_v61p.Q140Kc.418C>ASubstitution - Missense
ENST00000371192p.Q140Kc.418C>ASubstitution - Missense
KIF20BENSG00000138182ENST00000416354p.E676Ec.2028A>GSubstitution - coding silent
IDEENSG00000119912ENST00000265986p.L116fs*43c.347delTDeletion - Frameshift
KAT6BENSG00000156650ENST00000287239p.P1241Hc.3722C>ASubstitution - Missense
DLG5ENSG00000151208ENST00000372391p.S941Sc.2823C>TSubstitution - coding silent
CDC42BPAENSG00000143776ENST00000366767p.L793Lc.2379G>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.V344Lc.1030G>CSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.V344Lc.1030G>CSubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.?c.652-1G>TUnknown
HSPG2ENSG00000142798ENST00000374695p.R812Rc.2434C>ASubstitution - coding silent
ALOX5ENSG00000012779ENST00000374391p.?c.555-5T>AUnknown
NRP1ENSG00000099250ENST00000265371p.T349Nc.1046C>ASubstitution - Missense
NRP1ENSG00000099250ENST00000374823p.T349Nc.1046C>ASubstitution - Missense
KIF1BENSG00000054523ENST00000377093p.R310Qc.929G>ASubstitution - Missense
PFKPENSG00000067057ENST00000381075p.A419Vc.1256C>TSubstitution - Missense
DOCK9ENSG00000088387ENST00000339416p.I1137Vc.3409A>GSubstitution - Missense
DOCK9ENSG00000088387ENST00000448493p.I1148Vc.3442A>GSubstitution - Missense
TRMT13ENSG00000122435ENST00000370141p.Q167Rc.500A>GSubstitution - Missense
DTX1ENSG00000135144ENST00000257600p.V51Mc.151G>ASubstitution - Missense
TRPV4ENSG00000111199ENST00000261740p.I145fs*12c.426_427insCInsertion - Frameshift
TAS2R13ENSG00000212128ENST00000390677p.K123Kc.369G>ASubstitution - coding silent
WSCD2ENSG00000075035ENST00000332082p.R394Wc.1180C>TSubstitution - Missense
FNDC3AENSG00000102531ENST00000492622p.L681Lc.2043A>GSubstitution - coding silent
CAB39LENSG00000102547ENST00000355854p.?c.112-4C>TUnknown
KPNA3ENSG00000102753ENST00000261667p.?c.771+1G>AUnknown
TBC1D2BENSG00000167202ENST00000300584p.L625Ic.1873C>ASubstitution - Missense
TBC1D2BENSG00000167202ENST00000409931p.L625Ic.1873C>ASubstitution - Missense
AMPD3ENSG00000133805ENST00000396554p.Y688Cc.2063A>GSubstitution - Missense
ATMENSG00000149311ENST00000278616p.G2718Gc.8154C>TSubstitution - coding silent
PDZD3ENSG00000172367ENST00000322712p.E141Ec.423A>GSubstitution - coding silent
AP2A2ENSG00000183020ENST00000448903p.M738Lc.2212A>TSubstitution - Missense
CD163L1ENSG00000177675ENST00000313599p.S483Rc.1447A>CSubstitution - Missense
TSPAN8ENSG00000127324ENST00000247829p.V225Mc.673G>ASubstitution - Missense
CD163L1ENSG00000177675ENST00000313599p.P1226Pc.3678A>GSubstitution - coding silent
CD163L1ENSG00000177675ENST00000313599p.A1131Tc.3391G>ASubstitution - Missense
CALML6ENSG00000169885ENST00000307786p.F45Fc.135C>TSubstitution - coding silent
SWT1ENSG00000116668ENST00000367501p.S93Fc.278C>TSubstitution - Missense
MYOD1ENSG00000129152ENST00000250003p.R9Cc.25C>TSubstitution - Missense
SAAL1ENSG00000166788ENST00000524803p.P151Hc.452C>ASubstitution - Missense
IGSF22ENSG00000179057ENST00000513874p.I678Vc.2032A>GSubstitution - Missense
IGSF22ENSG00000179057ENST00000319338p.I678Vc.2032A>GSubstitution - Missense
PDE3BENSG00000152270ENST00000282096p.L999Mc.2995C>ASubstitution - Missense
KRTAP5-2ENSG00000205867ENST00000412090p.S26Sc.78T>CSubstitution - coding silent
ENST00000321016_v61p.P1155Lc.3464C>TSubstitution - Missense
FCGR2BENSG00000072694ENST00000358671p.Q63Qc.189G>ASubstitution - coding silent
ITLN2ENSG00000158764ENST00000368029p.L35Lc.105C>ASubstitution - coding silent
UBE3AENSG00000114062ENST00000397954p.G422Cc.1264G>TSubstitution - Missense
PTPRUENSG00000060656ENST00000345512p.R875Cc.2623C>TSubstitution - Missense
PTPRUENSG00000060656ENST00000460170p.R865Cc.2593C>TSubstitution - Missense
PTPRUENSG00000060656ENST00000460170p.R865Cc.2593C>TSubstitution - Missense
LAPTM5ENSG00000162511ENST00000294507p.A23Tc.67G>ASubstitution - Missense
COL16A1ENSG00000084636ENST00000373672p.C959Yc.2876G>ASubstitution - Missense
FMO6PENSG00000117507ENST00000236166p.V350Ac.1049T>CSubstitution - Missense
SOHLH2ENSG00000120669ENST00000379881p.L174Lc.522A>GSubstitution - coding silent
ARID2ENSG00000189079ENST00000334344p.?c.5363+8A>GUnknown
AP2A2ENSG00000183020ENST00000448903p.A136Sc.406G>TSubstitution - Missense
ANO4ENSG00000151572ENST00000392979p.L697Lc.2091A>GSubstitution - coding silent
CLEC1BENSG00000165682ENST00000298527p.L40Lc.120G>ASubstitution - coding silent
ABCC2ENSG00000023839ENST00000370449p.L1315Lc.3945G>CSubstitution - coding silent
ABCC2ENSG00000023839ENST00000370449p.R1210Hc.3629G>ASubstitution - Missense
FGD6ENSG00000180263ENST00000343958p.?c.3082+5G>AUnknown
LTA4HENSG00000111144ENST00000413268p.S90delSc.268_270delTCTDeletion - In frame
IGHMBP2ENSG00000132740ENST00000255078p.K870Ec.2608A>GSubstitution - Missense
B3GNT1ENSG00000174684ENST00000311181p.P170Pc.510C>GSubstitution - coding silent
CCSENSG00000173992ENST00000533244p.G157fs*32c.466delGDeletion - Frameshift
DCHS1ENSG00000166341ENST00000299441p.G1030Ac.3089G>CSubstitution - Missense
AHNAKENSG00000124942ENST00000378024p.I5155fs*4c.15458_15459insAInsertion - Frameshift
PHRF1ENSG00000070047ENST00000416188p.Q925Rc.2774A>GSubstitution - Missense
PHRF1ENSG00000070047ENST00000416188p.Q925Rc.2774A>GSubstitution - Missense
CNTFENSG00000242689ENST00000361987p.M1Ic.3G>ASubstitution - Missense
OR5A1ENSG00000172320ENST00000302030p.A189Sc.565G>TSubstitution - Missense
OXA1LENSG00000155463ENST00000285848p.?c.1014+8C>TUnknown
CDH24ENSG00000139880ENST00000397359p.P384Sc.1150C>TSubstitution - Missense
CDH24ENSG00000139880ENST00000487137p.P384Sc.1150C>TSubstitution - Missense
HOMEZENSG00000215271ENST00000357460p.G286Gc.858C>ASubstitution - coding silent
HOMEZENSG00000215271ENST00000357460p.H198Rc.593A>GSubstitution - Missense
MYH6ENSG00000197616ENST00000356287p.L1430Lc.4288T>CSubstitution - coding silent
WDR20ENSG00000140153ENST00000335263p.V268Ac.803T>CSubstitution - Missense
TTC40ENSG00000171811ENST00000368582p.R1182Cc.3544C>TSubstitution - Missense
ENST00000305220p.C50Cc.150C>TSubstitution - coding silent
TTC40ENSG00000171811ENST00000368586p.C108Cc.324C>TSubstitution - coding silent
TTC40ENSG00000171811ENST00000368582p.C108Cc.324C>TSubstitution - coding silent
FAM196AENSG00000188916ENST00000522781p.E394Dc.1182A>CSubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.G1064Rc.3190G>ASubstitution - Missense
ENST00000368915p.G1064Rc.3190G>ASubstitution - Missense
SLCO2B1ENSG00000137491ENST00000289575p.C557Rc.1669T>CSubstitution - Missense
EPS8L2ENSG00000177106ENST00000318562p.R102Qc.305G>ASubstitution - Missense
SYT9ENSG00000170743ENST00000318881p.R312Gc.934A>GSubstitution - Missense
RNF121ENSG00000137522ENST00000361756p.?c.399-6C>TUnknown
NUMA1ENSG00000137497ENST00000393695p.E1245Dc.3735G>CSubstitution - Missense
NTRK3ENSG00000140538ENST00000394480p.V451Ic.1351G>ASubstitution - Missense
PRKAA2ENSG00000162409ENST00000371244p.V195Vc.585T>ASubstitution - coding silent
PRKAA2ENSG00000162409ENST00000371244p.V195Vc.585T>ASubstitution - coding silent
PRKAA2ENSG00000162409ENST00000371244p.T447Ic.1340C>TSubstitution - Missense
PRKAA2ENSG00000162409ENST00000371244p.T447Ic.1340C>TSubstitution - Missense
FBN1ENSG00000166147ENST00000316623p.R1469Lc.4406G>TSubstitution - Missense
ENST00000343901_v65p.R472Qc.1415G>ASubstitution - Missense
CYP4A22ENSG00000162365ENST00000371891p.N427Sc.1280A>GSubstitution - Missense
SPG11ENSG00000104133ENST00000261866p.A704Tc.2110G>ASubstitution - Missense
SPG11ENSG00000104133ENST00000558319p.A704Tc.2110G>ASubstitution - Missense
MAP1AENSG00000166963ENST00000300231p.F559Fc.1677C>TSubstitution - coding silent
MAP1AENSG00000166963ENST00000300231p.P560Sc.1678C>TSubstitution - Missense
PLA2G4EENSG00000188089ENST00000413860p.T350Ic.1049C>TSubstitution - Missense
TCHHENSG00000159450ENST00000368804p.K1100Tc.3299A>CSubstitution - Missense
ZNF687ENSG00000143373ENST00000324048p.L1138Lc.3414C>ASubstitution - coding silent
VPS13DENSG00000048707ENST00000358136p.E130fs*20c.384_385insGInsertion - Frameshift
XM_052561.7p.A1502Ac.4506C>TSubstitution - coding silent
POP5ENSG00000167272ENST00000357500p.R135Rc.405G>CSubstitution - coding silent
KDM2BENSG00000089094ENST00000377071p.S1075Gc.3223A>GSubstitution - Missense
KDM2BENSG00000089094ENST00000377069p.S1006Gc.3016A>GSubstitution - Missense
NM_032590.2p.S714Gc.2140A>GSubstitution - Missense
WDR66ENSG00000158023ENST00000288912p.A587Ec.1760C>ASubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.H1259Yc.3775C>TSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.S1418fs*17c.4246delCDeletion - Frameshift
SZT2ENSG00000198198ENST00000372442p.V2033Vc.6099A>GSubstitution - coding silent
SZT2ENSG00000198198ENST00000372442p.V2033Vc.6099A>GSubstitution - coding silent
UTP11LENSG00000183520ENST00000373014p.V179fs*1c.530delADeletion - Frameshift
PCNXL3ENSG00000197136ENST00000355703p.T291Tc.873G>ASubstitution - coding silent
SLC3A2ENSG00000168003ENST00000377892p.L483Fc.1447C>TSubstitution - Missense
SLC22A25ENSG00000196600ENST00000306494p.T210Ac.628A>GSubstitution - Missense
MARK2ENSG00000072518ENST00000402010p.M732Vc.2194A>GSubstitution - Missense
MARK2ENSG00000072518ENST00000509502p.M689Vc.2065A>GSubstitution - Missense
CTNNA3ENSG00000183230ENST00000433211p.?c.1977+9C>TUnknown
DNAJC12ENSG00000108176ENST00000225171p.A144Sc.430G>TSubstitution - Missense
HOXA6ENSG00000106006ENST00000222728p.R182Wc.544C>TSubstitution - Missense
PFKFB3ENSG00000170525ENST00000379775p.R475Hc.1424G>ASubstitution - Missense
PFKFB3ENSG00000170525ENST00000379785p.R475Hc.1424G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.T828Pc.2482A>CSubstitution - Missense
IL15RAENSG00000134470ENST00000379977p.A84Tc.250G>ASubstitution - Missense
DIP2CENSG00000151240ENST00000280886p.S41Tc.121T>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.T823Pc.2467A>CSubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.T823Pc.2467A>CSubstitution - Missense
ENST00000417177p.T828Pc.2482A>CSubstitution - Missense
UNKLENSG00000059145ENST00000397462p.V175fs*45c.523delGDeletion - Frameshift
SYNMENSG00000182253ENST00000328642p.H841fs*47c.2515delGDeletion - Frameshift
ABCD4ENSG00000119688ENST00000356924p.V506Lc.1516G>TSubstitution - Missense
RGS6ENSG00000182732ENST00000553525p.G418Ec.1253G>ASubstitution - Missense
WACENSG00000095787ENST00000354911p.I386Kc.1157T>ASubstitution - Missense
MALRD1ENSG00000204740ENST00000454679p.G441Dc.1322G>ASubstitution - Missense
BMI1ENSG00000168283ENST00000376663p.K235Ec.703A>GSubstitution - Missense
GAD2ENSG00000136750ENST00000259271p.A72Vc.215C>TSubstitution - Missense
FAM171A1ENSG00000148468ENST00000378116p.P579Sc.1735C>TSubstitution - Missense
C1QL3ENSG00000165985ENST00000298943p.S216Rc.646A>CSubstitution - Missense
CUBNENSG00000107611ENST00000377833p.S2652*c.7955C>GSubstitution - Nonsense
CUBNENSG00000107611ENST00000377833p.T1713Mc.5138C>TSubstitution - Missense
NSUN6ENSG00000241058ENST00000377304p.Q402Hc.1206G>TSubstitution - Missense
GP2ENSG00000169347ENST00000381362p.C194Cc.582C>TSubstitution - coding silent
CLCN7ENSG00000103249ENST00000382745p.?c.822+9A>TUnknown
AKR7A3ENSG00000162482ENST00000361640p.Q178*c.532C>TSubstitution - Nonsense
ITGA10ENSG00000143127ENST00000369304p.T649Nc.1946C>ASubstitution - Missense
RBM15ENSG00000162775ENST00000369784p.S153Sc.459C>TSubstitution - coding silent
ADORA3ENSG00000121933ENST00000241356p.C194Cc.582C>TSubstitution - coding silent
ZC3H12CENSG00000149289ENST00000278590p.K700Kc.2100G>ASubstitution - coding silent
FDX1ENSG00000137714ENST00000260270p.S159Cc.476C>GSubstitution - Missense
DBX1ENSG00000109851ENST00000227256p.G245Rc.733G>ASubstitution - Missense
LUZP4ENSG00000102021ENST00000371920p.E284Ec.852G>ASubstitution - coding silent
C1GALT1C1ENSG00000171155ENST00000304661p.T147Tc.441G>ASubstitution - coding silent
ARFGEF1ENSG00000066777ENST00000262215p.?c.639+4_639+7delagtaUnknown
NSMAFENSG00000035681ENST00000427130p.I116fs*1c.346delADeletion - Frameshift
VCPIP1ENSG00000175073ENST00000310421p.N289Nc.867T>CSubstitution - coding silent
XKR4ENSG00000206579ENST00000327381p.T273Ic.818C>TSubstitution - Missense
FZD5ENSG00000163251ENST00000295417p.V392Mc.1174G>ASubstitution - Missense
CRYGBENSG00000182187ENST00000260988p.G41Dc.122G>ASubstitution - Missense
RPEENSG00000197713ENST00000429921p.?c.328-6A>GUnknown
TFPIENSG00000003436ENST00000409676p.M103fs*6c.307_308insAInsertion - Frameshift
DZANK1ENSG00000089091ENST00000262547p.I514Lc.1540A>CSubstitution - Missense
JAG1ENSG00000101384ENST00000254958p.G175Gc.525C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.S615Ic.1844G>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.H5730Hc.17190T>CSubstitution - coding silent
GDNFENSG00000168621ENST00000427982p.S163Sc.489C>TSubstitution - coding silent
GDNFENSG00000168621ENST00000326524p.S146Sc.438C>TSubstitution - coding silent
SKA3ENSG00000165480ENST00000314759p.S276fs*2c.826_827insAInsertion - Frameshift
SKA3ENSG00000165480ENST00000400018p.S276fs*2c.826_827insAInsertion - Frameshift
LAMP1ENSG00000185896ENST00000332556p.A26Vc.77C>TSubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.G570Rc.1708G>ASubstitution - Missense
ARHGEF7ENSG00000102606ENST00000375741p.L487Pc.1460T>CSubstitution - Missense
ABCA4ENSG00000198691ENST00000370225p.D586Gc.1757A>GSubstitution - Missense
SLC2A5ENSG00000142583ENST00000377424p.F475Lc.1423T>CSubstitution - Missense
C14orf159ENSG00000133943ENST00000523816p.G312Vc.935G>TSubstitution - Missense
RIN3ENSG00000100599ENST00000216487p.P40Pc.120G>ASubstitution - coding silent
PLEKHH1ENSG00000054690ENST00000329153p.Y222fs*49c.663_664insCInsertion - Frameshift
ADCK1ENSG00000063761ENST00000341211p.K58Nc.174G>CSubstitution - Missense
MIER1ENSG00000198160ENST00000401041p.H491Pc.1472A>CSubstitution - Missense
MIER1ENSG00000198160ENST00000355356p.H438Pc.1313A>CSubstitution - Missense
NM_000957.2p.K323Nc.969A>CSubstitution - Missense
PTGER3ENSG00000050628ENST00000370924p.K323Nc.969A>CSubstitution - Missense
NM_000957.2p.L90Lc.268C>TSubstitution - coding silent
PTGER3ENSG00000050628ENST00000306666p.L90Lc.268C>TSubstitution - coding silent
PTGER3ENSG00000050628ENST00000460330p.L90Lc.268C>TSubstitution - coding silent
NFIAENSG00000162599ENST00000371189p.F531Fc.1593C>TSubstitution - coding silent
TNFRSF14ENSG00000157873ENST00000355716p.A192Vc.575C>TSubstitution - Missense
PRAMEF2ENSG00000120952ENST00000240189p.L122Lc.366G>TSubstitution - coding silent
PRAMEF6ENSG00000232423ENST00000376182p.R417fs*22c.1249delCDeletion - Frameshift
CCNL2ENSG00000221978ENST00000400809p.E360Dc.1080G>TSubstitution - Missense
GPRC5AENSG00000013588ENST00000014914p.T216Mc.647C>TSubstitution - Missense
DNAH10ENSG00000197653ENST00000409039p.A3656fs*9c.10966_10967insGInsertion - Frameshift
DHX37ENSG00000150990ENST00000308736p.W1003Rc.3007T>CSubstitution - Missense
C11orf54ENSG00000182919ENST00000528288p.F93Sc.278T>CSubstitution - Missense
HIP1RENSG00000130787ENST00000253083p.K232Nc.696G>TSubstitution - Missense
C12orf65ENSG00000130921ENST00000253233p.?c.282+5A>GUnknown
CCDC67ENSG00000165325ENST00000298050p.S361fs*1c.1080_1081delCTDeletion - Frameshift
SYTL2ENSG00000137501ENST00000316356p.R758Qc.2273G>ASubstitution - Missense
ME3ENSG00000151376ENST00000393324p.R379Sc.1137G>TSubstitution - Missense
TMEM135ENSG00000166575ENST00000305494p.A106Vc.317C>TSubstitution - Missense
MYO1EENSG00000157483ENST00000288235p.L285Mc.853C>ASubstitution - Missense
RIC3ENSG00000166405ENST00000343202p.T282Ic.845C>TSubstitution - Missense
CYP19A1ENSG00000137869ENST00000396402p.W39*c.117G>ASubstitution - Nonsense
RAB7L1ENSG00000117280ENST00000367139p.?c.378+8G>AUnknown
PM20D1ENSG00000162877ENST00000367136p.S37Sc.111G>ASubstitution - coding silent
RUSC1ENSG00000160753ENST00000368354p.S517Sc.1551C>TSubstitution - coding silent
RUSC1ENSG00000160753ENST00000368347p.S107Sc.321C>TSubstitution - coding silent
RUSC1ENSG00000160753ENST00000292254p.S48Sc.144C>TSubstitution - coding silent
FLGENSG00000143631ENST00000368799p.S911Sc.2733A>GSubstitution - coding silent
CHTOPENSG00000160679ENST00000368694p.G129Gc.387C>TSubstitution - coding silent
INTS3ENSG00000143624ENST00000318967p.A696Vc.2087C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.L736Ic.2206C>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000399634p.L736Ic.2206C>ASubstitution - Missense
ATL1ENSG00000198513ENST00000358385p.S15Sc.45G>ASubstitution - coding silent
CLEC14AENSG00000176435ENST00000342213p.G240Gc.720C>TSubstitution - coding silent
ULK2ENSG00000083290ENST00000361658p.T531fs*4c.1585_1586insCInsertion - Frameshift
KIAA0753ENSG00000198920ENST00000361413p.V534Mc.1600G>ASubstitution - Missense
MRC2ENSG00000011028ENST00000303375p.P918Pc.2754T>CSubstitution - coding silent
ENST00000375206p.?c.1508+10G>AUnknown
SLC26A7ENSG00000147606ENST00000276609p.Q20fs*24c.53delCDeletion - Frameshift
INTS9ENSG00000104299ENST00000521022p.P331Pc.993T>CSubstitution - coding silent
EOGTENSG00000163378ENST00000295571p.R127Gc.379A>GSubstitution - Missense
LMOD3ENSG00000163380ENST00000420581p.E151*c.451G>TSubstitution - Nonsense
MITFENSG00000187098ENST00000394351p.P52Pc.156A>GSubstitution - coding silent
MITFENSG00000187098ENST00000328528p.P158Pc.474A>GSubstitution - coding silent
KANK1ENSG00000107104ENST00000382303p.T356Tc.1068C>ASubstitution - coding silent
ENST00000354485p.T356Tc.1068C>ASubstitution - coding silent
FAM189A2ENSG00000135063ENST00000257515p.R401Wc.1201C>TSubstitution - Missense
FAM189A2ENSG00000135063ENST00000377216p.R188Wc.562C>TSubstitution - Missense
ENST00000423537_v68p.R306Hc.917G>ASubstitution - Missense
ENST00000403891p.K240delKc.718_720delAAGDeletion - In frame
ENSG00000203286ENST00000366116p.L79Pc.236T>CSubstitution - Missense
FAM205AENSG00000205108ENST00000378788p.E812Dc.2436G>CSubstitution - Missense
FAM205AENSG00000205108ENST00000378788p.E812Dc.2436G>CSubstitution - Missense
APTXENSG00000137074ENST00000309615p.E246fs*3c.736delGDeletion - Frameshift
PLXNA4ENSG00000221866ENST00000321063p.L1450Rc.4349T>GSubstitution - Missense
SLC13A1ENSG00000081800ENST00000194130p.C318Yc.953G>ASubstitution - Missense
NM_019888.2p.Q151*c.451C>TSubstitution - Nonsense
RAE1ENSG00000101146ENST00000395841p.?c.825+5G>AUnknown
CTCFLENSG00000124092ENST00000243914p.S565Sc.1695G>ASubstitution - coding silent
B4GALT5ENSG00000158470ENST00000371711p.I125Vc.373A>GSubstitution - Missense
ADNPENSG00000101126ENST00000349014p.E1024fs*7c.3071_3072delAGDeletion - Frameshift
KCNG1ENSG00000026559ENST00000371571p.F391Fc.1173C>TSubstitution - coding silent
NFATC2ENSG00000101096ENST00000396009p.E5fs*35c.12delCDeletion - Frameshift
MROH8ENSG00000101353ENST00000400441p.L697Lc.2091T>CSubstitution - coding silent
SRCENSG00000197122ENST00000445403p.L328Lc.982T>CSubstitution - coding silent
TGM2ENSG00000198959ENST00000361475p.C545Cc.1635C>TSubstitution - coding silent
PHF20ENSG00000025293ENST00000374012p.K912fs*21c.2731delADeletion - Frameshift
KIR3DL3ENSG00000242019ENST00000291860p.H172Hc.516C>TSubstitution - coding silent
DDRGK1ENSG00000198171ENST00000354488p.G239Gc.717C>TSubstitution - coding silent
ASPDHENSG00000204653ENST00000376916p.G7fs*18c.18delADeletion - Frameshift
MYBPC2ENSG00000086967ENST00000357701p.R869Qc.2606G>ASubstitution - Missense
ALDH16A1ENSG00000161618ENST00000293350p.T513Ac.1537A>GSubstitution - Missense
ENST00000391849p.?c.340+7C>TUnknown
ZNF254ENSG00000213096ENST00000357002p.G116Gc.348A>GSubstitution - coding silent
ZNF77ENSG00000175691ENST00000314531p.G116Sc.346G>ASubstitution - Missense
ZNF91ENSG00000167232ENST00000300619p.H624Hc.1872C>TSubstitution - coding silent
DNAH2ENSG00000183914ENST00000389173p.M1180Tc.3539T>CSubstitution - Missense
XM_290732.4p.A333Vc.998C>TSubstitution - Missense
ZBTB4ENSG00000174282ENST00000380599p.G304Gc.912C>ASubstitution - coding silent
ZBTB4ENSG00000174282ENST00000311403p.G304Gc.912C>ASubstitution - coding silent
ITGB4ENSG00000132470ENST00000339591p.Y1579Yc.4737C>TSubstitution - coding silent
MPRIPENSG00000133030ENST00000341712p.S824Sc.2472G>ASubstitution - coding silent
NCOR1ENSG00000141027ENST00000268712p.P1536Sc.4606C>TSubstitution - Missense
MAP2K4ENSG00000065559ENST00000353533p.?c.219-3_219-2insAGUnknown
MAP2K4ENSG00000065559ENST00000353533p.G265Dc.794G>ASubstitution - Missense
TEKT3ENSG00000125409ENST00000395930p.L258Pc.773T>CSubstitution - Missense
NM_015691.2p.L961Rc.2882T>GSubstitution - Missense
GPRASP2ENSG00000158301ENST00000543253p.S70Yc.209C>ASubstitution - Missense
TCEAL5ENSG00000204065ENST00000372680p.R101Qc.302G>ASubstitution - Missense
ZNF169ENSG00000175787ENST00000395395p.R577Cc.1729C>TSubstitution - Missense
PTCH1ENSG00000185920ENST00000331920p.?c.2887+9C>TUnknown
PTCH1ENSG00000185920ENST00000375274p.?c.2884+9C>TUnknown
WNK2ENSG00000165238ENST00000297954p.I1956Ic.5868C>TSubstitution - coding silent
SU_WNK2p.I1904Ic.5712C>TSubstitution - coding silent
CD320ENSG00000167775ENST00000301458p.C74Cc.222C>TSubstitution - coding silent
ENST00000380947p.R272Qc.815G>ASubstitution - Missense
RFX2ENSG00000087903ENST00000303657p.P603Pc.1809C>ASubstitution - coding silent
AIFM1ENSG00000156709ENST00000319908p.?c.107-6C>AUnknown
ADCY9ENSG00000162104ENST00000294016p.V250fs*33c.748delGDeletion - Frameshift
CNGA3ENSG00000144191ENST00000272602p.T689fs*>6c.2061delADeletion - Frameshift
KIF3CENSG00000084731ENST00000264712p.E608Gc.1823A>GSubstitution - Missense
ENST00000331807p.Y161Yc.483C>TSubstitution - coding silent
NBEAL1ENSG00000144426ENST00000449802p.G2396Wc.7186G>TSubstitution - Missense
ENST00000388944p.G1106Wc.3316G>TSubstitution - Missense
ATAD2BENSG00000119778ENST00000238789p.S1247Nc.3740G>ASubstitution - Missense
ENST00000356127p.S8372Sc.25116T>CSubstitution - coding silent
CCDC150ENSG00000144395ENST00000389175p.H374Hc.1122T>CSubstitution - coding silent
TTNENSG00000155657ENST00000342175p.G13769Dc.41306G>ASubstitution - Missense
DGCR14ENSG00000100056ENST00000252137p.R175Qc.524G>ASubstitution - Missense
GLP2RENSG00000065325ENST00000262441p.G141Gc.423G>CSubstitution - coding silent
CCBE1ENSG00000183287ENST00000439986p.?c.654+9C>TUnknown
CCDC11ENSG00000172361ENST00000398545p.R380Rc.1138A>CSubstitution - coding silent
ENSG00000173213ENST00000308911p.L273Pc.818T>CSubstitution - Missense
LOXHD1ENSG00000167210ENST00000536736p.?c.5213+8G>TUnknown
LOXHD1ENSG00000167210ENST00000398722p.?c.4565+8G>TUnknown
KIFC2ENSG00000167702ENST00000301332p.I266fs*12c.787delGDeletion - Frameshift
ENST00000356067p.T8Mc.23C>TSubstitution - Missense
PLECENSG00000178209ENST00000322810p.Q2927Qc.8781A>GSubstitution - coding silent
PLECENSG00000178209ENST00000436759p.Q2817Qc.8451A>GSubstitution - coding silent
PLECENSG00000178209ENST00000345136p.Q2790Qc.8370A>GSubstitution - coding silent
XM_374491.1p.Y475Yc.1425T>CSubstitution - coding silent
CDK14ENSG00000058091ENST00000265741p.L210fs*6c.622delGDeletion - Frameshift
CDK14ENSG00000058091ENST00000380050p.L228fs*6c.676delGDeletion - Frameshift
CYP51A1ENSG00000001630ENST00000003100p.L32Vc.94C>GSubstitution - Missense
MGAMENSG00000257335ENST00000475668p.G294Gc.882A>GSubstitution - coding silent
ENST00000389322p.G294Gc.882A>GSubstitution - coding silent
TRIM24ENSG00000122779ENST00000415680p.R837*c.2509C>TSubstitution - Nonsense
PARP12ENSG00000059378ENST00000263549p.P637Pc.1911G>CSubstitution - coding silent
DOCK3ENSG00000088538ENST00000266037p.S1829Fc.5486C>TSubstitution - Missense
IQCF3ENSG00000229972ENST00000456080p.V85Vc.255C>TSubstitution - coding silent
IQCF3ENSG00000229972ENST00000456080p.V85Vc.255C>TSubstitution - coding silent
MST1ENSG00000173531ENST00000449682p.P57Sc.169C>TSubstitution - Missense
KLBENSG00000134962ENST00000257408p.S741Sc.2223G>ASubstitution - coding silent
APBB2ENSG00000163697ENST00000513140p.?c.20-3delcUnknown
CLIC6ENSG00000159212ENST00000349499p.L582Lc.1744C>TSubstitution - coding silent
ADAMTS1ENSG00000154734ENST00000284984p.V311Vc.933C>TSubstitution - coding silent
CCT8ENSG00000156261ENST00000286788p.?c.1284+4_1284+5delcaUnknown
HNF1BENSG00000108753ENST00000225893p.D87Nc.259G>ASubstitution - Missense
PNMTENSG00000141744ENST00000269582p.F94Lc.280T>CSubstitution - Missense
RPGRIP1LENSG00000103494ENST00000379925p.N131fs*3c.392delADeletion - Frameshift
MMP2ENSG00000087245ENST00000219070p.?c.1336+10C>TUnknown
ZNF500ENSG00000103199ENST00000219478p.R54Qc.161G>ASubstitution - Missense
ADAMTS3ENSG00000156140ENST00000286657p.L1012Lc.3036G>ASubstitution - coding silent
STX19ENSG00000178750ENST00000315099p.R107Sc.321A>CSubstitution - Missense
ANKRD39ENSG00000213337ENST00000393537p.A113Vc.338C>TSubstitution - Missense
ENST00000434864p.G67Ac.200G>CSubstitution - Missense
PKNOX1ENSG00000160199ENST00000291547p.?c.849+8C>TUnknown
PRDM15ENSG00000141956ENST00000269844p.T1413Tc.4239C>TSubstitution - coding silent
WRBENSG00000182093ENST00000333781p.V153Ac.458T>CSubstitution - Missense
ZNF823ENSG00000197933ENST00000341191p.F313Yc.938T>ASubstitution - Missense
ZNF700ENSG00000196757ENST00000254321p.K172Kc.516G>ASubstitution - coding silent
STK11ENSG00000118046ENST00000326873p.S193Sc.579C>TSubstitution - coding silent
ILF3ENSG00000129351ENST00000407004p.S281Lc.842C>TSubstitution - Missense
SETBP1ENSG00000152217ENST00000282030p.H1116Rc.3347A>GSubstitution - Missense
WDR45BENSG00000141580ENST00000392325p.A67Tc.199G>ASubstitution - Missense
NM_015461.1p.D715Dc.2145C>TSubstitution - coding silent
SS18ENSG00000141380ENST00000415083p.P117Pc.351G>ASubstitution - coding silent
EMILIN2ENSG00000132205ENST00000254528p.T597Tc.1791C>TSubstitution - coding silent
RNF213ENSG00000173821ENST00000319921p.P336Pc.1008T>CSubstitution - coding silent
ENST00000411702p.P385Pc.1155T>CSubstitution - coding silent
RNF213ENSG00000173821ENST00000456466p.P336Pc.1008T>CSubstitution - coding silent
TAOK1ENSG00000160551ENST00000261716p.?c.656-1G>TUnknown
HOXA2ENSG00000105996ENST00000222718p.S220Sc.660C>TSubstitution - coding silent
PORENSG00000127948ENST00000450476p.A157Vc.470C>TSubstitution - Missense
STEAP1BENSG00000105889ENST00000404369p.Q163Qc.489G>ASubstitution - coding silent
IQCEENSG00000106012ENST00000402050p.L432Lc.1296G>ASubstitution - coding silent
ARID1BENSG00000049618ENST00000346085p.D1825fs*1c.5471_5472insGInsertion - Frameshift
CCDC170ENSG00000120262ENST00000239374p.K196Nc.588G>TSubstitution - Missense
FBXO30ENSG00000118496ENST00000237281p.G630Dc.1889G>ASubstitution - Missense
CDH6ENSG00000113361ENST00000265071p.E323Gc.968A>GSubstitution - Missense
MGAT1ENSG00000131446ENST00000333055p.G13Gc.39C>TSubstitution - coding silent
ANKRD50ENSG00000151458ENST00000504087p.Y261Cc.782A>GSubstitution - Missense
TRAM1L1ENSG00000174599ENST00000310754p.L320Rc.959T>GSubstitution - Missense
DNAH6ENSG00000115423ENST00000237449p.I1365Vc.4093A>GSubstitution - Missense
DQX1ENSG00000144045ENST00000404568p.G694*c.2080G>TSubstitution - Nonsense
PRMT7ENSG00000132600ENST00000339507p.S575Sc.1725C>ASubstitution - coding silent
ZFP90ENSG00000184939ENST00000398253p.A488Vc.1463C>TSubstitution - Missense
PLEKHG4ENSG00000196155ENST00000360461p.L1093Pc.3278T>CSubstitution - Missense
BMPR1BENSG00000138696ENST00000515059p.T24fs*33c.65delCDeletion - Frameshift
PPIP5K2ENSG00000145725ENST00000321521p.S565Sc.1695T>CSubstitution - coding silent
CX3CR1ENSG00000168329ENST00000358309p.S19Sc.57T>CSubstitution - coding silent
MOBPENSG00000168314ENST00000420739p.A89fs*146c.259delCDeletion - Frameshift
ZBTB47ENSG00000114853ENST00000232974p.A83Vc.248C>TSubstitution - Missense
KLHL40ENSG00000157119ENST00000287777p.R127Gc.379C>GSubstitution - Missense
EXOGENSG00000157036ENST00000287675p.V279Ac.836T>CSubstitution - Missense
KCNF1ENSG00000162975ENST00000295082p.G103Dc.308G>ASubstitution - Missense
LLGL2ENSG00000073350ENST00000167462p.R1015*c.3043C>TSubstitution - Nonsense
NEURL4ENSG00000215041ENST00000315614p.A578Vc.1733C>TSubstitution - Missense
ACAP1ENSG00000072818ENST00000158762p.A77Vc.230C>TSubstitution - Missense
ZNF606ENSG00000166704ENST00000341164p.A778Tc.2332G>ASubstitution - Missense
ZSCAN1ENSG00000152467ENST00000282326p.W136Lc.407G>TSubstitution - Missense
ZNF805ENSG00000204524ENST00000414468p.S530fs*40c.1587delCDeletion - Frameshift
ZSCAN5AENSG00000131848ENST00000391713p.S153Gc.457A>GSubstitution - Missense
GRIPAP1ENSG00000068400ENST00000376441p.?c.43-9C>TUnknown
GRIPAP1ENSG00000068400ENST00000376423p.?c.43-9C>TUnknown
PLATENSG00000104368ENST00000429089p.T298Tc.894C>ASubstitution - coding silent
RAB11FIP1ENSG00000156675ENST00000330843p.M794Ic.2382G>TSubstitution - Missense
MAK16ENSG00000198042ENST00000360128p.K140Ec.418A>GSubstitution - Missense
NUDT9ENSG00000170502ENST00000302174p.V50Lc.148G>CSubstitution - Missense
PPM1KENSG00000163644ENST00000295908p.A323Tc.967G>ASubstitution - Missense
ARHGAP24ENSG00000138639ENST00000395184p.G397Gc.1191C>ASubstitution - coding silent
ARHGAP24ENSG00000138639ENST00000264343p.G304Gc.912C>ASubstitution - coding silent
MAPK10ENSG00000109339ENST00000359221p.S417Sc.1251A>GSubstitution - coding silent
MAPK10ENSG00000109339ENST00000449047p.S272Sc.816A>GSubstitution - coding silent
FRAS1ENSG00000138759ENST00000264895p.K630fs*67c.1881delCDeletion - Frameshift
ADH1AENSG00000187758ENST00000209668p.C133Yc.398G>ASubstitution - Missense
MTTPENSG00000138823ENST00000265517p.H236fs*11c.703_704delACDeletion - Frameshift
MUC4ENSG00000145113ENST00000463781p.L1761Pc.5282T>CSubstitution - Missense
ENST00000405167p.L1761Pc.5282T>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.V3726Ic.11176G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.D3461Vc.10382A>TSubstitution - Missense
RASGRP3ENSG00000152689ENST00000403687p.?c.70+3A>GUnknown
TRAPPC12ENSG00000171853ENST00000382110p.G545Gc.1635C>TSubstitution - coding silent
ZNF513ENSG00000163795ENST00000323703p.P177Qc.530C>ASubstitution - Missense
PRR14LENSG00000183530ENST00000327423p.K1130Kc.3390A>GSubstitution - coding silent
SEC14L2ENSG00000100003ENST00000312932p.L130Vc.388C>GSubstitution - Missense
ZNRF3ENSG00000183579ENST00000406323p.L182Pc.545T>CSubstitution - Missense
UCKL1ENSG00000198276ENST00000354216p.?c.1567+10C>TUnknown
NM_000933.2p.S889Rc.2665A>CSubstitution - Missense
ABHD16BENSG00000183260ENST00000369916p.R343Qc.1028G>ASubstitution - Missense
MBOAT7ENSG00000125505ENST00000245615p.P337Hc.1010C>ASubstitution - Missense
TCFL5ENSG00000101190ENST00000217162p.A323Vc.968C>TSubstitution - Missense
ZNF816ENSG00000180257ENST00000357666p.N404Nc.1212T>CSubstitution - coding silent
MYH13ENSG00000006788ENST00000252172p.R1638Hc.4913G>ASubstitution - Missense
ENST00000329373p.P37Lc.110C>TSubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.E1630Kc.4888G>ASubstitution - Missense
FBXW7ENSG00000109670ENST00000281708p.D90Nc.268G>ASubstitution - Missense
PRR23AENSG00000206260ENST00000383163p.A183Tc.547G>ASubstitution - Missense
NPHP3ENSG00000113971ENST00000337331p.?c.2570+9A>TUnknown
MAATS1ENSG00000183833ENST00000273390p.E758Ec.2274G>ASubstitution - coding silent
BOCENSG00000144857ENST00000355385p.G444Wc.1330G>TSubstitution - Missense
TIGITENSG00000181847ENST00000383671p.P79Tc.235C>ASubstitution - Missense
SLC9C1ENSG00000172139ENST00000305815p.L860Fc.2578C>TSubstitution - Missense
SMPD4ENSG00000136699ENST00000409031p.P264Sc.790C>TSubstitution - Missense
SRCAPENSG00000080603ENST00000262518p.P1366Pc.4098C>TSubstitution - coding silent
SRCAPENSG00000080603ENST00000262518p.T2900Ac.8698A>GSubstitution - Missense
STX1BENSG00000099365ENST00000215095p.S207Sc.621C>TSubstitution - coding silent
ZG16ENSG00000174992ENST00000400752p.P135Lc.404C>TSubstitution - Missense
ENST00000400752_v68p.P135Lc.404C>TSubstitution - Missense
GRWD1ENSG00000105447ENST00000253237p.R225fs*2c.668delCDeletion - Frameshift
CCDC8ENSG00000169515ENST00000307522p.A166Ac.498G>ASubstitution - coding silent
EML2ENSG00000125746ENST00000245925p.S92Nc.275G>ASubstitution - Missense
AP3D1ENSG00000065000ENST00000345016p.?c.2800-7C>GUnknown
SEMA6BENSG00000167680ENST00000301293p.V304Mc.910G>ASubstitution - Missense
CILP2ENSG00000160161ENST00000291495p.R1020Hc.3059G>ASubstitution - Missense
KIAA1683ENSG00000130518ENST00000392413p.P442Sc.1324C>TSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.D275fs*13c.824delADeletion - Frameshift
TAF1ENSG00000147133ENST00000276072p.C326Rc.976T>CSubstitution - Missense
TAF1ENSG00000147133ENST00000276072p.A1024Tc.3070G>ASubstitution - Missense
EDAENSG00000158813ENST00000338901p.S66Sc.198G>ASubstitution - coding silent
FREM1ENSG00000164946ENST00000422223p.S1378Fc.4133C>TSubstitution - Missense
CCZ1BENSG00000146574ENST00000316731p.Q182*c.544C>TSubstitution - Nonsense
RAC1ENSG00000136238ENST00000356142p.N39Sc.116A>GSubstitution - Missense
ENST00000539430p.?c.2212+4A>GUnknown
SRRTENSG00000087087ENST00000347433p.A583Tc.1747G>ASubstitution - Missense
BDP1ENSG00000145734ENST00000358731p.A1761Tc.5281G>ASubstitution - Missense
ZDHHC3ENSG00000163812ENST00000296127p.S144Nc.431G>ASubstitution - Missense
ZDHHC3ENSG00000163812ENST00000339420p.S10Nc.29G>ASubstitution - Missense
XCR1ENSG00000173578ENST00000309285p.Y14fs*3c.40_41insTInsertion - Frameshift
SETMARENSG00000170364ENST00000358065p.A248Vc.743C>TSubstitution - Missense
TUBGCP6ENSG00000128159ENST00000248846p.S213Sc.639G>ASubstitution - coding silent
LDOC1LENSG00000188636ENST00000341255p.R163Hc.488G>ASubstitution - Missense
SMC1BENSG00000077935ENST00000357450p.Q397Hc.1191G>CSubstitution - Missense
IQSEC1ENSG00000144711ENST00000429247p.P996fs*124c.2986_2987delCCDeletion - Frameshift
SLC1A4ENSG00000115902ENST00000234256p.?c.1364+3A>GUnknown
COL6A3ENSG00000163359ENST00000295550p.I2590Vc.7768A>GSubstitution - Missense
INPP5DENSG00000168918ENST00000359570p.P3Pc.9C>ASubstitution - coding silent
ENST00000334050p.A187Vc.560C>TSubstitution - Missense
XM_051221.5p.R1682Qc.5045G>ASubstitution - Missense
SLC16A14ENSG00000163053ENST00000295190p.Y119Cc.356A>GSubstitution - Missense
STK11IPENSG00000144589ENST00000295641p.A5Tc.13G>ASubstitution - Missense
SCG2ENSG00000171951ENST00000305409p.E367Qc.1099G>CSubstitution - Missense
CCDC108ENSG00000181378ENST00000341552p.W1601Cc.4803G>TSubstitution - Missense
NM_005689.1p.A411Sc.1231G>TSubstitution - Missense
ATG9AENSG00000198925ENST00000396761p.C493Cc.1479C>TSubstitution - coding silent
DNPEPENSG00000123992ENST00000273075p.K409Nc.1227G>TSubstitution - Missense
SU_SPEGp.I1356Vc.4066A>GSubstitution - Missense
SU_SPEGp.V1477Ic.4429G>ASubstitution - Missense
RGPD8ENSG00000169629ENST00000302558p.E933Dc.2799A>CSubstitution - Missense
ENST00000381114p.A2622Ac.7866T>GSubstitution - coding silent
NHSENSG00000188158ENST00000380060p.R721Cc.2161C>TSubstitution - Missense
NHSENSG00000188158ENST00000398097p.R565Cc.1693C>TSubstitution - Missense
YY2ENSG00000230797ENST00000429584p.T178fs*8c.529delADeletion - Frameshift
FLNAENSG00000196924ENST00000369850p.S2308Sc.6924A>GSubstitution - coding silent
FLNAENSG00000196924ENST00000369850p.S2308Sc.6924A>GSubstitution - coding silent
PLXNA3ENSG00000130827ENST00000369682p.G1228fs*58c.3678delGDeletion - Frameshift
IRAK1ENSG00000184216ENST00000369980p.V346Vc.1038C>TSubstitution - coding silent
MAGI2ENSG00000187391ENST00000354212p.A75Vc.224C>TSubstitution - Missense
HEATR2ENSG00000164818ENST00000297440p.D367Gc.1100A>GSubstitution - Missense
HEATR2ENSG00000164818ENST00000297440p.R496Cc.1486C>TSubstitution - Missense
PCDHGC3ENSG00000240184ENST00000308177p.V760Vc.2280G>TSubstitution - coding silent
PCDHGB7ENSG00000254122ENST00000398594p.N379fs*8c.1133delADeletion - Frameshift
PLD1ENSG00000075651ENST00000351298p.S473Sc.1419G>ASubstitution - coding silent
NLGN1ENSG00000169760ENST00000457714p.I371Mc.1113A>GSubstitution - Missense
TBL1XR1ENSG00000177565ENST00000430069p.V87Ic.259G>ASubstitution - Missense
MECOMENSG00000085276ENST00000264674p.R792Qc.2375G>ASubstitution - Missense
SIPA1L3ENSG00000105738ENST00000222345p.S45Nc.134G>ASubstitution - Missense
ZNF790ENSG00000197863ENST00000356725p.C256Cc.768T>CSubstitution - coding silent
PRR11ENSG00000068489ENST00000262293p.K22Rc.65A>GSubstitution - Missense
MAGENSG00000105695ENST00000392213p.?c.1520-3C>TUnknown
MAGENSG00000105695ENST00000361922p.?c.1520-3C>TUnknown
MKS1ENSG00000011143ENST00000393119p.H271fs*29c.811delCDeletion - Frameshift
BZRAP1ENSG00000005379ENST00000343736p.G1378Dc.4133G>ASubstitution - Missense
TEX14ENSG00000121101ENST00000240361p.N1204Sc.3611A>GSubstitution - Missense
TEX14ENSG00000121101ENST00000349033p.N1158Sc.3473A>GSubstitution - Missense
USP6ENSG00000129204ENST00000250066p.H470fs*36c.1404delCDeletion - Frameshift
DHX33ENSG00000005100ENST00000225296p.?c.678+8G>TUnknown
MEOX1ENSG00000005102ENST00000318579p.P39Lc.116C>TSubstitution - Missense
ENST00000335500p.R97Wc.289C>TSubstitution - Missense
ATP6V0A1ENSG00000033627ENST00000343619p.L651Lc.1951C>TSubstitution - coding silent
TUBG2ENSG00000037042ENST00000251412p.Q394*c.1180C>TSubstitution - Nonsense
DHX57ENSG00000163214ENST00000295373p.G971Gc.2913G>CSubstitution - coding silent
SLC8A1ENSG00000183023ENST00000403092p.E694Gc.2081A>GSubstitution - Missense
SHPKENSG00000197417ENST00000225519p.A358Dc.1073C>ASubstitution - Missense
NM_002311.2p.P667Tc.1999C>ASubstitution - Missense
FUT9ENSG00000172461ENST00000302103p.A201Tc.601G>ASubstitution - Missense
PTPRKENSG00000152894ENST00000368226p.Y892Cc.2675A>GSubstitution - Missense
KIAA0368ENSG00000136813ENST00000259335p.V324Ic.970G>ASubstitution - Missense
KIAA1958ENSG00000165185ENST00000337530p.S322Nc.965G>ASubstitution - Missense
ZNF462ENSG00000148143ENST00000277225p.N2500Dc.7498A>GSubstitution - Missense
EPB41L4BENSG00000095203ENST00000374557p.W310*c.930G>ASubstitution - Nonsense
ABCA1ENSG00000165029ENST00000374736p.V1693Lc.5077G>CSubstitution - Missense
NM_022783.1p.F64Sc.191T>CSubstitution - Missense
CSMD3ENSG00000164796ENST00000343508p.C2888Cc.8664C>TSubstitution - coding silent
EXT1ENSG00000182197ENST00000378204p.E290Dc.870G>TSubstitution - Missense
BAI3ENSG00000135298ENST00000370598p.*1523fs?c.4568delADeletion - Frameshift
DSTENSG00000151914ENST00000370769p.L1499fs*8c.4496delTDeletion - Frameshift
DCBLD1ENSG00000164465ENST00000338728p.R654Tc.1961G>CSubstitution - Missense
ELOVL2ENSG00000197977ENST00000354666p.W50Cc.150G>TSubstitution - Missense
CSDC2ENSG00000172346ENST00000306149p.?c.177-3C>TUnknown
MEI1ENSG00000167077ENST00000300398p.I230Ic.690C>ASubstitution - coding silent
SOX10ENSG00000100146ENST00000396884p.G186Gc.558C>TSubstitution - coding silent
MRPL4ENSG00000105364ENST00000307422p.R76Rc.228C>TSubstitution - coding silent
MYH9ENSG00000100345ENST00000216181p.A1692Vc.5075C>TSubstitution - Missense
MYH9ENSG00000100345ENST00000216181p.A404Vc.1211C>TSubstitution - Missense
SOGA2ENSG00000168502ENST00000359865p.K1227Nc.3681G>TSubstitution - Missense
PPP4R1ENSG00000154845ENST00000400556p.V189Vc.567G>TSubstitution - coding silent
SRPX2ENSG00000102359ENST00000373004p.R144Rc.432C>TSubstitution - coding silent
ASCC3ENSG00000112249ENST00000369162p.Y1054Yc.3162T>CSubstitution - coding silent
FAM133AENSG00000179083ENST00000538690p.V26Mc.76G>ASubstitution - Missense
POLR3GENSG00000113356ENST00000399107p.Y223Cc.668A>GSubstitution - Missense
KIAA0825ENSG00000185261ENST00000513200p.K493fs*52c.1479delADeletion - Frameshift
KIAA0825ENSG00000185261ENST00000312498p.K493fs*52c.1479delADeletion - Frameshift
ACSL6ENSG00000164398ENST00000296869p.M380Tc.1139T>CSubstitution - Missense
TCF7ENSG00000081059ENST00000342854p.?c.1075+9T>CUnknown
TCF7ENSG00000081059ENST00000378560p.?c.730+9T>CUnknown
ENST00000361590p.?c.1075+9T>CUnknown
ADD1ENSG00000087274ENST00000264758p.S175Sc.525C>TSubstitution - coding silent
MFSD10ENSG00000109736ENST00000355443p.A183Vc.548C>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.F1363fs*5c.4089delTDeletion - Frameshift
RNF175ENSG00000145428ENST00000347063p.V318Ic.952G>ASubstitution - Missense
RNF175ENSG00000145428ENST00000347063p.V318Ic.952G>ASubstitution - Missense
DCHS2ENSG00000197410ENST00000339452p.A552Tc.1654G>ASubstitution - Missense
DCHS2ENSG00000197410ENST00000443500p.A552Tc.1654G>ASubstitution - Missense
RBM33ENSG00000184863ENST00000401878p.P581Lc.1742C>TSubstitution - Missense
RBM33ENSG00000184863ENST00000401878p.P581Lc.1742C>TSubstitution - Missense
WDR60ENSG00000126870ENST00000407559p.V912Lc.2734G>CSubstitution - Missense
MAN2B2ENSG00000013288ENST00000285599p.A51Ac.153G>ASubstitution - coding silent
KMT2CENSG00000055609ENST00000262189p.T316Nc.947C>ASubstitution - Missense
SRP72ENSG00000174780ENST00000342756p.A454Vc.1361C>TSubstitution - Missense
POLR2BENSG00000047315ENST00000381227p.S793fs*27c.2376_2377delCTDeletion - Frameshift
GALNT13ENSG00000144278ENST00000392825p.T214Kc.641C>ASubstitution - Missense
ORC4ENSG00000115947ENST00000264169p.A299Vc.896C>TSubstitution - Missense
UBE2CENSG00000175063ENST00000335046p.P122Pc.366A>GSubstitution - coding silent
PLCG1ENSG00000124181ENST00000244007p.Y833Yc.2499C>TSubstitution - coding silent
RBCK1ENSG00000125826ENST00000353660p.C464Cc.1392T>CSubstitution - coding silent
ZNF235ENSG00000159917ENST00000291182p.C377Cc.1131T>CSubstitution - coding silent
ATP1A3ENSG00000105409ENST00000302102p.Q157Rc.470A>GSubstitution - Missense
AKAP8ENSG00000105127ENST00000269701p.L418Mc.1252C>ASubstitution - Missense
CYP4F2ENSG00000186115ENST00000221700p.L98fs*41c.292delCDeletion - Frameshift
ASF1BENSG00000105011ENST00000263382p.A48Vc.143C>TSubstitution - Missense
RBBP6ENSG00000122257ENST00000319715p.R793Rc.2379T>CSubstitution - coding silent
SLC5A11ENSG00000158865ENST00000347898p.T127Mc.380C>TSubstitution - Missense
AQP8ENSG00000103375ENST00000219660p.L65Lc.195G>ASubstitution - coding silent
UQCRC2ENSG00000140740ENST00000268379p.T80Tc.240C>TSubstitution - coding silent
CIRH1AENSG00000141076ENST00000314423p.D654Vc.1961A>TSubstitution - Missense
ZSCAN21ENSG00000166529ENST00000292450p.E29Gc.86A>GSubstitution - Missense
COBLENSG00000106078ENST00000265136p.V195Mc.583G>ASubstitution - Missense
COBLENSG00000106078ENST00000395540p.V195Mc.583G>ASubstitution - Missense
VSTM2AENSG00000170419ENST00000402026p.L5fs*31c.10delTDeletion - Frameshift
VSTM2AENSG00000170419ENST00000407838p.L6fs*31c.13delTDeletion - Frameshift
TNS3ENSG00000136205ENST00000311160p.A1184Tc.3550G>ASubstitution - Missense
NOBOXENSG00000106410ENST00000223140p.A394Tc.1180G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Ac.418T>GSubstitution - Missense
ENST00000539307p.S177Ac.529T>GSubstitution - Missense
TRIM15ENSG00000204610ENST00000376694p.C105Yc.314G>ASubstitution - Missense
HIST1H3JENSG00000197153ENST00000359303p.A115Tc.343G>ASubstitution - Missense
ZSCAN31ENSG00000235109ENST00000439158p.Q119Qc.357A>GSubstitution - coding silent
FAM71BENSG00000170613ENST00000302938p.I318Tc.953T>CSubstitution - Missense
PCDHB7ENSG00000113212ENST00000231137p.A635Tc.1903G>ASubstitution - Missense
PCDHB7ENSG00000113212ENST00000231137p.R672Pc.2015G>CSubstitution - Missense
PLXNB3ENSG00000198753ENST00000538966p.R971Qc.2912G>ASubstitution - Missense
PLXNB3ENSG00000198753ENST00000361971p.R948Qc.2843G>ASubstitution - Missense
HCFC1ENSG00000172534ENST00000310441p.R1511Hc.4532G>ASubstitution - Missense
NM_005334.1p.R1414Hc.4241G>ASubstitution - Missense
MOSPD2ENSG00000130150ENST00000380492p.T288Ac.862A>GSubstitution - Missense
MCF2ENSG00000101977ENST00000519895p.S511fs*3c.1531_1532insTInsertion - Frameshift
MCF2ENSG00000101977ENST00000370576p.S451fs*3c.1351_1352insTInsertion - Frameshift
MCF2ENSG00000101977ENST00000370573p.S451fs*3c.1351_1352insTInsertion - Frameshift
MCF2ENSG00000101977ENST00000370578p.S596fs*3c.1786_1787insTInsertion - Frameshift
SPANXN3ENSG00000189252ENST00000370503p.T46Sc.136A>TSubstitution - Missense
SLITRK4ENSG00000179542ENST00000381779p.G612Dc.1835G>ASubstitution - Missense
MOSPD2ENSG00000130150ENST00000380492p.?c.79+10C>AUnknown
SDK1ENSG00000146555ENST00000404826p.?c.959+10G>AUnknown
ZNF780BENSG00000128000ENST00000434248p.H775fs*31c.2324delADeletion - Frameshift
NCCRP1ENSG00000188505ENST00000339852p.A120Ec.359C>ASubstitution - Missense
SYCNENSG00000179751ENST00000318438p.P47Pc.141C>ASubstitution - coding silent
SHC3ENSG00000148082ENST00000375830p.?c.301-6G>CUnknown
SPATA31D1ENSG00000214929ENST00000344803p.S169Sc.507G>ASubstitution - coding silent
PRUNE2ENSG00000106772ENST00000376718p.T1196Ac.3586A>GSubstitution - Missense
RABL6ENSG00000196642ENST00000371663p.G181Dc.542G>ASubstitution - Missense
RABL6ENSG00000196642ENST00000311502p.G259Dc.776G>ASubstitution - Missense
TMC1ENSG00000165091ENST00000297784p.G542Ec.1625G>ASubstitution - Missense
RALGDSENSG00000160271ENST00000542690p.C42fs*7c.123delCDeletion - Frameshift
ADAMTSL2ENSG00000197859ENST00000393061p.R88Hc.263G>ASubstitution - Missense
ARHGEF37ENSG00000183111ENST00000333677p.Q512fs*2c.1533delCDeletion - Frameshift
GTF3C5ENSG00000148308ENST00000372095p.R355Lc.1064G>TSubstitution - Missense
AFAP1L1ENSG00000157510ENST00000296721p.S188Sc.564C>ASubstitution - coding silent
COL16A1ENSG00000084636ENST00000271069p.C959Yc.2876G>ASubstitution - Missense
ENST00000530275_v68p.A999Tc.2995G>ASubstitution - Missense
CDC42BPAENSG00000143776ENST00000366765p.L874Lc.2622G>ASubstitution - coding silent
KIF21BENSG00000116852ENST00000422435p.R715Wc.2143C>TSubstitution - Missense
SEMA6CENSG00000143434ENST00000368913p.G267Gc.801C>TSubstitution - coding silent
CELF3ENSG00000159409ENST00000290583p.G163Cc.487G>TSubstitution - Missense
DOCK9ENSG00000088387ENST00000442173p.I1136Vc.3406A>GSubstitution - Missense
KLRG1ENSG00000139187ENST00000266551p.?c.458+9C>AUnknown
MYO16ENSG00000041515ENST00000457511p.G82Rc.244G>ASubstitution - Missense
ITGA7ENSG00000135424ENST00000452168p.Q399Qc.1197G>ASubstitution - coding silent
ITGA7ENSG00000135424ENST00000257880p.Q536Qc.1608G>ASubstitution - coding silent
ATF7IPENSG00000171681ENST00000543189p.I939Tc.2816T>CSubstitution - Missense
TMEM52BENSG00000165685ENST00000381923p.W46Rc.136T>CSubstitution - Missense
RIC3ENSG00000166405ENST00000396677p.T121Ic.362C>TSubstitution - Missense
ENST00000337072p.R726Cc.2176C>TSubstitution - Missense
APLNRENSG00000134817ENST00000257254p.S63Sc.189A>GSubstitution - coding silent
SIDT2ENSG00000149577ENST00000278951p.I186Fc.556A>TSubstitution - Missense
KCNQ1ENSG00000053918ENST00000335475p.R324Wc.970C>TSubstitution - Missense
ZDHHC16ENSG00000171307ENST00000370846p.A210Tc.628G>ASubstitution - Missense
DIP2CENSG00000151240ENST00000423550p.S41Tc.121T>ASubstitution - Missense
IL15RAENSG00000134470ENST00000397255p.A84Tc.250G>ASubstitution - Missense
BICC1ENSG00000122870ENST00000263103p.?c.1255-3C>TUnknown
NRP1ENSG00000099250ENST00000432372p.T22Nc.65C>ASubstitution - Missense
DOCK1ENSG00000150760ENST00000280333p.Y1055Yc.3165C>TSubstitution - coding silent
HLA-DOAENSG00000204252ENST00000450833p.V128Vc.384G>ASubstitution - coding silent
FCGR2BENSG00000072694ENST00000428605p.Q63Qc.189G>ASubstitution - coding silent
GPR115ENSG00000153294ENST00000371220p.?c.723+9T>AUnknown
TCTE1ENSG00000146221ENST00000371505p.S212Sc.636C>TSubstitution - coding silent
C6orf106ENSG00000196821ENST00000374023p.S67Nc.200G>ASubstitution - Missense
CRIP3ENSG00000146215ENST00000372569p.E165Gc.494A>GSubstitution - Missense
BRD2ENSG00000204256ENST00000395289p.A654Tc.1960G>ASubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.A276Tc.826G>ASubstitution - Missense
ITPR3ENSG00000096433ENST00000374316p.A276Tc.826G>ASubstitution - Missense
HSPA1LENSG00000204390ENST00000375654p.A8Tc.22G>ASubstitution - Missense
EHMT2ENSG00000204371ENST00000375537p.S258fs*37c.768delCDeletion - Frameshift
NSD1ENSG00000165671ENST00000439151p.G983fs*57c.2944delGDeletion - Frameshift
NSD1ENSG00000165671ENST00000439151p.R2199Cc.6595C>TSubstitution - Missense
F12ENSG00000131187ENST00000253496p.H394fs*39c.1182_1183delCADeletion - Frameshift
GRM6ENSG00000113262ENST00000231188p.Y841Yc.2523C>TSubstitution - coding silent
CREBRFENSG00000164463ENST00000296953p.G429Dc.1286G>ASubstitution - Missense
LAP3ENSG00000002549ENST00000226299p.S225fs*78c.670delADeletion - Frameshift
WDR17ENSG00000150627ENST00000280190p.I1114Vc.3340A>GSubstitution - Missense
ETFDHENSG00000171503ENST00000511912p.H169Hc.507T>CSubstitution - coding silent
ETFDHENSG00000171503ENST00000511912p.G382Gc.1146T>CSubstitution - coding silent
FNIP2ENSG00000052795ENST00000264433p.R741Wc.2221C>TSubstitution - Missense
NUP188ENSG00000095319ENST00000372577p.G369fs*21c.1102delGDeletion - Frameshift
SLC25A25ENSG00000148339ENST00000373068p.Y491Yc.1473C>TSubstitution - coding silent
SLC25A25ENSG00000148339ENST00000432073p.Y477Yc.1431C>TSubstitution - coding silent
SLC25A25ENSG00000148339ENST00000373064p.Y457Yc.1371C>TSubstitution - coding silent
CIZ1ENSG00000148337ENST00000372938p.T461Ac.1381A>GSubstitution - Missense
FAM129BENSG00000136830ENST00000373312p.G599fs*>148c.1796delGDeletion - Frameshift
FAM129BENSG00000136830ENST00000373314p.G586fs*>148c.1757delGDeletion - Frameshift
PSMD5ENSG00000095261ENST00000210313p.N325Nc.975T>CSubstitution - coding silent
ASTN2ENSG00000148219ENST00000288520p.S428Sc.1284A>GSubstitution - coding silent
ASTN2ENSG00000148219ENST00000313400p.S1327Sc.3981A>GSubstitution - coding silent
CDK5RAP2ENSG00000136861ENST00000349780p.M1277Lc.3829A>TSubstitution - Missense
KIF12ENSG00000136883ENST00000374118p.A70Vc.209C>TSubstitution - Missense
NOSTRINENSG00000163072ENST00000444448p.V222Ac.665T>CSubstitution - Missense
SCN7AENSG00000136546ENST00000409855p.L494Sc.1481T>CSubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.R270Cc.808C>TSubstitution - Missense
XIRP2ENSG00000163092ENST00000409728p.R303Cc.907C>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.L964Rc.2891T>GSubstitution - Missense
GNAZENSG00000128266ENST00000248996p.A153Vc.458C>TSubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
PLP2ENSG00000102007ENST00000376322p.L59Lc.177T>CSubstitution - coding silent
STARD8ENSG00000130052ENST00000374599p.C853Yc.2558G>ASubstitution - Missense
STARD8ENSG00000130052ENST00000252336p.C773Yc.2318G>ASubstitution - Missense
STARD8ENSG00000130052ENST00000252336p.C773Yc.2318G>ASubstitution - Missense
TAF1ENSG00000147133ENST00000449580p.C305Rc.913T>CSubstitution - Missense
PCSK5ENSG00000099139ENST00000424854p.C718Cc.2154C>TSubstitution - coding silent
WNK2ENSG00000165238ENST00000395477p.I1919Ic.5757C>TSubstitution - coding silent
RABL6ENSG00000196642ENST00000436380p.M137Ic.411G>ASubstitution - Missense
ENST00000373903p.N96Nc.288T>CSubstitution - coding silent
CCDC180ENSG00000197816ENST00000411667p.?c.1082+10G>AUnknown
KIAA0368ENSG00000136813ENST00000338205p.V146Ic.436G>ASubstitution - Missense
PPAPDC1BENSG00000147535ENST00000422581p.E40*c.118G>TSubstitution - Nonsense
COBLENSG00000106078ENST00000395542p.V195Mc.583G>ASubstitution - Missense
C7orf55-LUC7L2ENSG00000146963ENST00000263545p.E123Ac.368A>CSubstitution - Missense
C7orf55-LUC7L2ENSG00000146963ENST00000541170p.E121Ac.362A>CSubstitution - Missense
STEAP1BENSG00000105889ENST00000406890p.Q144Qc.432G>ASubstitution - coding silent
SLC22A7ENSG00000137204ENST00000451757p.G143Dc.428G>ASubstitution - Missense
TRIM15ENSG00000204610ENST00000376688p.?c.308+6G>AUnknown
DTNBP1ENSG00000047579ENST00000355917p.L217Lc.651G>ASubstitution - coding silent
AGPAT4ENSG00000026652ENST00000366905p.L6Lc.18G>ASubstitution - coding silent
PTPRKENSG00000152894ENST00000368227p.Y904Cc.2711A>GSubstitution - Missense
C6ENSG00000039537ENST00000263413p.S874*c.2621C>ASubstitution - Nonsense
C6ENSG00000039537ENST00000263413p.S874Tc.2620T>ASubstitution - Missense
SLIT3ENSG00000184347ENST00000404867p.C729Cc.2187C>TSubstitution - coding silent
ACSL6ENSG00000164398ENST00000379249p.M355Tc.1064T>CSubstitution - Missense
TCF7ENSG00000081059ENST00000518915p.?c.730+9T>CUnknown
TCF7ENSG00000081059ENST00000321603p.?c.1075+9T>CUnknown
EVC2ENSG00000173040ENST00000344938p.T290Mc.869C>TSubstitution - Missense
PPIP5K2ENSG00000145725ENST00000358359p.S565Sc.1695T>CSubstitution - coding silent
TRERF1ENSG00000124496ENST00000541110p.S611fs*19c.1830delCDeletion - Frameshift
BAI3ENSG00000135298ENST00000238918p.*729fs?c.2186delADeletion - Frameshift
ZNF717ENSG00000227124ENST00000400845p.T551fs*6c.1649_1818del170Deletion - Frameshift
FRAS1ENSG00000138759ENST00000264899p.K630fs*67c.1881delCDeletion - Frameshift
FCHO2ENSG00000157107ENST00000287761p.N15fs*11c.38delADeletion - Frameshift
EHMT2ENSG00000204371ENST00000395728p.S315fs*37c.939delCDeletion - Frameshift
USP6ENSG00000129204ENST00000304328p.H153fs*36c.453delCDeletion - Frameshift
NFATC2ENSG00000101096ENST00000371564p.E5fs*35c.12delCDeletion - Frameshift
ZNF687ENSG00000143373ENST00000368879p.H733fs*30c.2191delCDeletion - Frameshift
CTAGE5ENSG00000150527ENST00000341502p.L59fs*22c.169delTDeletion - Frameshift
C15orf39ENSG00000167173ENST00000567617p.P474fs*91c.1415delCDeletion - Frameshift
SETMARENSG00000170364ENST00000430981p.A248Vc.743C>TSubstitution - Missense
CSPG5ENSG00000114646ENST00000383738p.R371Qc.1112G>ASubstitution - Missense
SLC8A1ENSG00000183023ENST00000406785p.E658Gc.1973A>GSubstitution - Missense
DNAH6ENSG00000115423ENST00000398278p.I1365Vc.4093A>GSubstitution - Missense
KIDINS220ENSG00000134313ENST00000319688p.L531Pc.1592T>CSubstitution - Missense
RIF1ENSG00000080345ENST00000444746p.R1725Gc.5173A>GSubstitution - Missense
ZNRF3ENSG00000183579ENST00000544604p.L282Pc.845T>CSubstitution - Missense
CLIC6ENSG00000159212ENST00000360731p.L600Lc.1798C>TSubstitution - coding silent
ENST00000560728p.?c.849+8C>TUnknown
PLCB4ENSG00000101333ENST00000378473p.S901Rc.2701A>CSubstitution - Missense
DZANK1ENSG00000089091ENST00000329494p.I516Lc.1546A>CSubstitution - Missense
EML2ENSG00000125746ENST00000536630p.S239Nc.716G>ASubstitution - Missense
LILRB3ENSG00000204577ENST00000346401p.P364Lc.1091C>TSubstitution - Missense
AP3D1ENSG00000065000ENST00000356926p.?c.2677-7C>GUnknown
TSHZ1ENSG00000179981ENST00000580243p.T965Ic.2894C>TSubstitution - Missense
ILF3ENSG00000129351ENST00000420083p.S281Lc.842C>TSubstitution - Missense
ENSG00000228157ENST00000443876p.L67Fc.199C>TSubstitution - Missense
ATP6V0A1ENSG00000033627ENST00000264649p.L658Lc.1972C>TSubstitution - coding silent
PKMENSG00000067225ENST00000449901p.?c.1444+5G>AUnknown
LPAR3ENSG00000171517ENST00000370611p.C41Cc.123C>TSubstitution - coding silent
ABCA4ENSG00000198691ENST00000535735p.D586Gc.1757A>GSubstitution - Missense
WDR20ENSG00000140153ENST00000454394p.V299Ac.896T>CSubstitution - Missense
MIER1ENSG00000198160ENST00000357692p.H455Pc.1364A>CSubstitution - Missense
PTGER3ENSG00000050628ENST00000354608p.K323Nc.969A>CSubstitution - Missense
N4BP2L2ENSG00000244754ENST00000267068p.S118Nc.353G>ASubstitution - Missense
ITGBL1ENSG00000198542ENST00000376180p.R367Lc.1100G>TSubstitution - Missense
ATF7IPENSG00000171681ENST00000261168p.I940Tc.2819T>CSubstitution - Missense
GPRIN2ENSG00000204175ENST00000374317p.Q118Qc.354G>ASubstitution - coding silent
GPATCH2ENSG00000092978ENST00000366935p.?c.1099-8C>TUnknown
HCN4ENSG00000138622ENST00000261917p.?c.785+9C>TUnknown
TPOENSG00000115705ENST00000345913p.R206Lc.617G>TSubstitution - Missense
C3orf20ENSG00000131379ENST00000253697p.A212Tc.634G>ASubstitution - Missense
CNTRLENSG00000119397ENST00000373855p.K1802fs*9c.5399delADeletion - Frameshift
PDS5BENSG00000083642ENST00000315596p.R394*c.1180A>TSubstitution - Nonsense
ABCG4ENSG00000172350ENST00000307417p.A334Tc.1000G>ASubstitution - Missense
WWC3ENSG00000047644ENST00000380861p.L961Rc.2882T>GSubstitution - Missense
WNK2ENSG00000165238ENST00000427277p.I1531Ic.4593C>TSubstitution - coding silent
ABCB6ENSG00000115657ENST00000265316p.A411Sc.1231G>TSubstitution - Missense
MAXENSG00000125952ENST00000556979p.R60Qc.179G>ASubstitution - Missense
TMEM135ENSG00000166575ENST00000355734p.A106Vc.317C>TSubstitution - Missense
OR1J4ENSG00000239590ENST00000340750p.V76Ic.226G>ASubstitution - Missense
SCN7AENSG00000136546ENST00000409855p.L494Sc.1481T>CSubstitution - Missense
STK10ENSG00000072786ENST00000176763p.A334Tc.1000G>ASubstitution - Missense
PHLDB3ENSG00000176531ENST00000292140p.V363Mc.1087G>ASubstitution - Missense
ZYXENSG00000159840ENST00000322764p.V484Mc.1450G>ASubstitution - Missense
GPER1ENSG00000164850ENST00000397088p.L304fs*16c.906delCDeletion - Frameshift
NM_024947.2p.H396Hc.1188T>CSubstitution - coding silent
ZNF792ENSG00000180884ENST00000404801p.A294Ac.882C>TSubstitution - coding silent
WFIKKN2ENSG00000173714ENST00000311378p.P503Tc.1507C>ASubstitution - Missense
AOC3ENSG00000131471ENST00000308423p.A541Ac.1623C>TSubstitution - coding silent
IARSENSG00000196305ENST00000375643p.G931Rc.2791G>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.C2928Cc.8784C>TSubstitution - coding silent
ZFP37ENSG00000136866ENST00000374227p.C606Cc.1818T>CSubstitution - coding silent
RHOBTB3ENSG00000164292ENST00000379982p.V75Vc.225C>GSubstitution - coding silent
SPTBN1ENSG00000115306ENST00000356805p.G2282Gc.6846C>TSubstitution - coding silent
NM_148674.1p.Q397Hc.1191G>CSubstitution - Missense
FLNAENSG00000196924ENST00000369850p.G1013Cc.3037G>TSubstitution - Missense
WDR33ENSG00000136709ENST00000322313p.P1323Pc.3969G>ASubstitution - coding silent
STK11IPENSG00000144589ENST00000295641p.A5Tc.13G>ASubstitution - Missense
ENSG00000172901ENST00000357872p.P161Lc.482C>TSubstitution - Missense
SEMA6AENSG00000092421ENST00000343348p.T427Ic.1280C>TSubstitution - Missense
PPAPDC1BENSG00000147535ENST00000419686p.E40*c.118G>TSubstitution - Nonsense
BPIFCENSG00000184459ENST00000397452p.L496Mc.1486C>ASubstitution - Missense
PRR14LENSG00000183530ENST00000397493p.K1130Kc.3390A>GSubstitution - coding silent
ENST00000356127p.G20072Dc.60215G>ASubstitution - Missense
LMOD3ENSG00000163380ENST00000420581p.E151*c.451G>TSubstitution - Nonsense
DPYSL2ENSG00000092964ENST00000311151p.N387Dc.1159A>GSubstitution - Missense
ZNF91ENSG00000167232ENST00000300619p.H624Hc.1872C>TSubstitution - coding silent
ENST00000300671p.K1882Rc.5645A>GSubstitution - Missense
DZANK1ENSG00000089091ENST00000377630p.I347Lc.1039A>CSubstitution - Missense
VPS13CENSG00000129003ENST00000395896p.R2921fs*1c.8760_8761insTGInsertion - Frameshift
DISP2ENSG00000140323ENST00000267889p.L573Lc.1717C>TSubstitution - coding silent
SZT2ENSG00000198198ENST00000372442p.S1418fs*17c.4246delCDeletion - Frameshift
NUDT13ENSG00000166321ENST00000357321p.M224Rc.671T>GSubstitution - Missense
KLENSG00000133116ENST00000380099p.P660Pc.1980C>TSubstitution - coding silent
BRCA2ENSG00000139618ENST00000380152p.N986fs*5c.2951delADeletion - Frameshift
LTA4HENSG00000111144ENST00000228740p.S114delSc.340_342delTCTDeletion - In frame
HOMEZENSG00000215271ENST00000357460p.H174Rc.521A>GSubstitution - Missense
SEC24CENSG00000176986ENST00000345254p.Q366Hc.1098A>CSubstitution - Missense
DGKZENSG00000149091ENST00000343674p.?c.691-1G>AUnknown
HOGA1ENSG00000241935ENST00000370646p.Q249Hc.747G>TSubstitution - Missense
ROBO3ENSG00000154134ENST00000397801p.A830Tc.2488G>ASubstitution - Missense
ITGA7ENSG00000135424ENST00000257879p.Q492Qc.1476G>ASubstitution - coding silent
MMRN2ENSG00000173269ENST00000372027p.L475Lc.1425G>ASubstitution - coding silent
HLXENSG00000136630ENST00000366903p.L112Lc.334C>TSubstitution - coding silent
NLRP12ENSG00000142405ENST00000324134p.N505Nc.1515C>TSubstitution - coding silent
SPDYE3ENSG00000214300ENST00000332397p.S418Sc.1254A>GSubstitution - coding silent
OTTHUMT00000058758.1p.?c.63-1G>CUnknown
COL24A1ENSG00000171502ENST00000370571p.G528Vc.1583G>TSubstitution - Missense
MAST2ENSG00000086015ENST00000361297p.L87Lc.261T>CSubstitution - coding silent
SYTL2ENSG00000137501ENST00000359152p.R1603Qc.4808G>ASubstitution - Missense
SIDT2ENSG00000149577ENST00000324225p.I186Fc.556A>TSubstitution - Missense
LAMC1ENSG00000135862ENST00000258341p.A203Tc.607G>ASubstitution - Missense
RGS6ENSG00000182732ENST00000555571p.G418Ec.1253G>ASubstitution - Missense
SHISA9ENSG00000237515ENST00000558583p.M276Vc.826A>GSubstitution - Missense
FAM189A1ENSG00000104059ENST00000261275p.R476Qc.1427G>ASubstitution - Missense
TRIM62ENSG00000116525ENST00000291416p.E212Kc.634G>ASubstitution - Missense
C12orf55ENSG00000188596ENST00000298953p.A446Tc.1336G>ASubstitution - Missense
SUSD4ENSG00000143502ENST00000343846p.R358Qc.1073G>ASubstitution - Missense
CDC42BPAENSG00000143776ENST00000366766p.L874Lc.2622G>ASubstitution - coding silent
INTS7ENSG00000143493ENST00000366994p.C351Cc.1053C>TSubstitution - coding silent
MRPL24ENSG00000143314ENST00000368211p.R42Cc.124C>TSubstitution - Missense
COBLENSG00000106078ENST00000395542p.V733Vc.2199G>ASubstitution - coding silent
ENST00000259410p.A203Vc.608C>TSubstitution - Missense
TTLL3ENSG00000214021ENST00000426895p.A345Vc.1034C>TSubstitution - Missense
EOGTENSG00000163378ENST00000383701p.R127Gc.379A>GSubstitution - Missense
PTCHD2ENSG00000204624ENST00000389575p.A1285Ac.3855C>TSubstitution - coding silent
BCORL1ENSG00000085185ENST00000303743p.P1755fs*20c.5258delCDeletion - Frameshift
GPX6ENSG00000198704ENST00000361902p.G93fs*34c.276_277insTInsertion - Frameshift
CCL4L1ENSG00000205020ENST00000444414p.?c.192-2G>AUnknown
LRFN3ENSG00000126243ENST00000246529p.Q568Hc.1704G>CSubstitution - Missense
ENST00000409686p.L128Pc.383T>CSubstitution - Missense
ACSL6ENSG00000164398ENST00000379264p.M380Tc.1139T>CSubstitution - Missense
FBXW12ENSG00000164049ENST00000296438p.M405Ic.1215G>ASubstitution - Missense
CD200R1LENSG00000206531ENST00000398214p.V115Vc.345G>ASubstitution - coding silent
UGP2ENSG00000169764ENST00000337130p.D54fs*11c.153_154insAInsertion - Frameshift
RAF1ENSG00000132155ENST00000251849p.A629Sc.1885G>TSubstitution - Missense
NSUN5ENSG00000130305ENST00000438747p.Q352Qc.1056G>ASubstitution - coding silent
TRERF1ENSG00000124496ENST00000372922p.S611fs*104c.1830delCDeletion - Frameshift
GIGYF1ENSG00000146830ENST00000275732p.?c.3055+4A>GUnknown
PORENSG00000127948ENST00000461988p.A258Vc.773C>TSubstitution - Missense
KCNF1ENSG00000162975ENST00000295082p.I406Tc.1217T>CSubstitution - Missense
ENST00000273083p.?c.2221+10G>AUnknown
ENST00000342345p.Q605*c.1813C>TSubstitution - Nonsense
LLGL2ENSG00000073350ENST00000167462p.L733Lc.2197C>TSubstitution - coding silent
CCDC106ENSG00000173581ENST00000308964p.A226Tc.676G>ASubstitution - Missense
TCEA2ENSG00000171703ENST00000343484p.R205Qc.614G>ASubstitution - Missense
SMC6ENSG00000163029ENST00000448223p.R152*c.454C>TSubstitution - Nonsense
PPP1R9AENSG00000158528ENST00000433360p.Y475Yc.1425T>CSubstitution - coding silent
SLC25A12ENSG00000115840ENST00000422440p.P265Qc.794C>ASubstitution - Missense
CASC3ENSG00000108349ENST00000264645p.?c.1965+1G>AUnknown
COL6A1ENSG00000142156ENST00000361866p.G975Gc.2925C>ASubstitution - coding silent
UGT2B11ENSG00000213759ENST00000446444p.T244Sc.731C>GSubstitution - Missense
GABBR2ENSG00000136928ENST00000259455p.L840Lc.2520G>TSubstitution - coding silent
KANK1ENSG00000107104ENST00000382293p.T198Tc.594C>ASubstitution - coding silent
CHD7ENSG00000171316ENST00000423902p.D2988fs*2c.8962_8963insGInsertion - Frameshift
PEX11GENSG00000104883ENST00000221480p.Q38Qc.114G>ASubstitution - coding silent
RBMXL3ENSG00000175718ENST00000424776p.R404_N405insSPDAHSGGRc.1198_1199ins27Insertion - In frame
MUC16ENSG00000181143ENST00000397910p.S615Ic.1844G>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.H5730Hc.17190T>CSubstitution - coding silent
MYO16ENSG00000041515ENST00000357550p.A1395Vc.4184C>TSubstitution - Missense
JAK1ENSG00000162434ENST00000342505p.K939Ec.2815A>GSubstitution - Missense
ENST00000280576p.A2248fs*9c.6742_6743insGInsertion - Frameshift
QSOX1ENSG00000116260ENST00000367602p.S493Sc.1479C>TSubstitution - coding silent
BCO2ENSG00000197580ENST00000357685p.I87Nc.260T>ASubstitution - Missense
BICC1ENSG00000122870ENST00000373886p.?c.2377-3C>TUnknown
ABTB2ENSG00000166016ENST00000435224p.S997Sc.2991C>TSubstitution - coding silent
MYO3AENSG00000095777ENST00000265944p.L786Sc.2357T>CSubstitution - Missense
PRB4ENSG00000230657ENST00000279575p.P73Hc.218C>ASubstitution - Missense
SZT2ENSG00000198198ENST00000562955p.S2260fs*17c.6772delCDeletion - Frameshift
LMX1AENSG00000162761ENST00000367893p.A248Vc.743C>TSubstitution - Missense
ENST00000309024p.T172Tc.516G>ASubstitution - coding silent
ZNF823ENSG00000197933ENST00000341191p.F313Yc.938T>ASubstitution - Missense
TMPRSS9ENSG00000178297ENST00000332578p.P614Sc.1840C>TSubstitution - Missense
ENSG00000228157ENST00000428928p.L67Fc.199C>TSubstitution - Missense
ADAMTS10ENSG00000142303ENST00000270328p.T108Ic.323C>TSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.D4246Gc.12737A>GSubstitution - Missense
PTGER3ENSG00000050628ENST00000370924p.L90Lc.268C>TSubstitution - coding silent
NOC2LENSG00000188976ENST00000327044p.L464Lc.1390C>TSubstitution - coding silent
FBLN5ENSG00000140092ENST00000342058p.Y159Yc.477T>CSubstitution - coding silent
KCNQ1ENSG00000053918ENST00000155840p.R451Wc.1351C>TSubstitution - Missense
KCNC2ENSG00000166006ENST00000341669p.W430*c.1290G>ASubstitution - Nonsense
PARNENSG00000140694ENST00000437198p.S402Sc.1206C>TSubstitution - coding silent
PCNXL3ENSG00000197136ENST00000355703p.T172Tc.516G>ASubstitution - coding silent
SYT12ENSG00000173227ENST00000393946p.?c.1093-2A>GUnknown
ENST00000268134p.T232Mc.695C>TSubstitution - Missense
MTA1ENSG00000182979ENST00000331320p.A382Vc.1145C>TSubstitution - Missense
GYS2ENSG00000111713ENST00000261195p.?c.1230-5T>GUnknown
SCN8AENSG00000196876ENST00000354534p.T1240Tc.3720C>TSubstitution - coding silent
CDC42BPAENSG00000143776ENST00000366769p.L874Lc.2622G>ASubstitution - coding silent
KRT76ENSG00000185069ENST00000332411p.A181Ac.543C>ASubstitution - coding silent
PCDH8ENSG00000136099ENST00000377942p.R64Hc.191G>ASubstitution - Missense
DOCK9ENSG00000088387ENST00000376460p.I1136Vc.3406A>GSubstitution - Missense
TMEM63AENSG00000196187ENST00000366835p.F533Lc.1599T>GSubstitution - Missense
KIF1BENSG00000054523ENST00000263934p.R310Qc.929G>ASubstitution - Missense
ZNF100ENSG00000197020ENST00000305570p.G116fs*3c.345delADeletion - Frameshift
PREX1ENSG00000124126ENST00000371941p.P961Pc.2883G>ASubstitution - coding silent
RRAS2ENSG00000133818ENST00000256196p.Q72Lc.215A>TSubstitution - Missense
UBN2ENSG00000157741ENST00000473989p.Q632Qc.1896G>ASubstitution - coding silent
ENST00000338994p.R88Hc.263G>ASubstitution - Missense
XM_372262.3p.E323Qc.967G>CSubstitution - Missense
MYH10ENSG00000133026ENST00000396239p.A999Vc.2996C>TSubstitution - Missense
SOGA2ENSG00000168502ENST00000306285p.K552Nc.1656G>TSubstitution - Missense
SLC22A7ENSG00000137204ENST00000372574p.G269Dc.806G>ASubstitution - Missense
CTAGE5ENSG00000150527ENST00000341749p.L47fs*22c.133delTDeletion - Frameshift
TRIM34ENSG00000258659ENST00000514226p.R372Cc.1114C>TSubstitution - Missense
RGS6ENSG00000182732ENST00000554782p.G279Ec.836G>ASubstitution - Missense
FPGSENSG00000136877ENST00000373247p.L196Mc.586C>ASubstitution - Missense
MYBL2ENSG00000101057ENST00000217026p.R156Cc.466C>TSubstitution - Missense
CPAMD8ENSG00000160111ENST00000291440p.D1439Gc.4316A>GSubstitution - Missense
EPHA1ENSG00000146904ENST00000275815p.R715Mc.2144G>TSubstitution - Missense
PCDHB5ENSG00000113209ENST00000231134p.I384Nc.1151T>ASubstitution - Missense
PCSK5ENSG00000099139ENST00000545128p.C1045Cc.3135C>TSubstitution - coding silent
MYH9ENSG00000100345ENST00000216181p.R358Rc.1074G>ASubstitution - coding silent
EPB41L4BENSG00000095203ENST00000374566p.W310*c.930G>ASubstitution - Nonsense
BRD1ENSG00000100425ENST00000342989p.R445Hc.1334G>ASubstitution - Missense
LRG1ENSG00000171236ENST00000306390p.T327Mc.980C>TSubstitution - Missense
DTNBP1ENSG00000047579ENST00000344537p.L216Lc.648G>ASubstitution - coding silent
TMEM242ENSG00000215712ENST00000400788p.A90Vc.269C>TSubstitution - Missense
RGPD8ENSG00000169629ENST00000302558p.E933Dc.2799A>CSubstitution - Missense
A1BGENSG00000121410ENST00000263100p.P131Pc.393C>TSubstitution - coding silent
BMPR1BENSG00000138696ENST00000515059p.T24fs*33c.65delCDeletion - Frameshift
LOXL3ENSG00000115318ENST00000264094p.N714Nc.2142C>TSubstitution - coding silent
FBXL8ENSG00000135722ENST00000258200p.A324Vc.971C>TSubstitution - Missense
NEURL4ENSG00000215041ENST00000399464p.A578Vc.1733C>TSubstitution - Missense
RASL10AENSG00000100276ENST00000216101p.R115Kc.344G>ASubstitution - Missense
PPP6R1ENSG00000105063ENST00000412770p.T374Ac.1120A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.S8372Sc.25116T>CSubstitution - coding silent
MYH10ENSG00000133026ENST00000269243p.A978Vc.2933C>TSubstitution - Missense
IGFBP4ENSG00000141753ENST00000269593p.K244fs*>15c.729delADeletion - Frameshift
NDUFV3ENSG00000160194ENST00000354250p.R200fs*55c.593delCDeletion - Frameshift
CCDC180ENSG00000197816ENST00000375202p.?c.1091+10G>AUnknown
ULK2ENSG00000083290ENST00000361658p.T531fs*4c.1585_1586insCInsertion - Frameshift
ARL16ENSG00000214087ENST00000397498p.N68fs*4c.201_202insAInsertion - Frameshift
FAM221BENSG00000204930ENST00000423537p.R306Hc.917G>ASubstitution - Missense
ZNF287ENSG00000141040ENST00000395824p.S490Rc.1468A>CSubstitution - Missense
ZNF780BENSG00000128000ENST00000434248p.H775fs*31c.2324delADeletion - Frameshift
NM_007181p.?c.370-2A>CUnknown
ZMIZ2ENSG00000122515ENST00000309315p.G126Gc.378C>TSubstitution - coding silent
CEBPZENSG00000115816ENST00000234170p.D640Dc.1920T>CSubstitution - coding silent
ENPP1ENSG00000197594ENST00000360971p.V256Lc.766G>CSubstitution - Missense
STAT5BENSG00000173757ENST00000293328p.Q301Qc.903G>ASubstitution - coding silent
COL5A1ENSG00000130635ENST00000371817p.S386Fc.1157C>TSubstitution - Missense
CACFD1ENSG00000160325ENST00000316948p.A130Tc.388G>ASubstitution - Missense
FBXW7ENSG00000109670ENST00000281708p.D90Nc.268G>ASubstitution - Missense
ADNP2ENSG00000101544ENST00000262198p.K133Qc.397A>CSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.D275fs*13c.824delADeletion - Frameshift
SETD7ENSG00000145391ENST00000274031p.?c.763-3C>TUnknown
ZNF804BENSG00000182348ENST00000333190p.P543Lc.1628C>TSubstitution - Missense
REPS2ENSG00000169891ENST00000357277p.L156Lc.468G>ASubstitution - coding silent
MANBAENSG00000109323ENST00000226578p.T609Ac.1825A>GSubstitution - Missense
IMPG2ENSG00000081148ENST00000193391p.G834Sc.2500G>ASubstitution - Missense
SVOPLENSG00000157703ENST00000419765p.?c.660+9G>AUnknown
DNAH1ENSG00000114841ENST00000420323p.N4069delNc.12200_12202delACADeletion - In frame
GET4ENSG00000239857ENST00000265857p.T256Ic.767C>TSubstitution - Missense
NOS2ENSG00000007171ENST00000313735p.P467Hc.1400C>ASubstitution - Missense
ENST00000391849p.R60Qc.179G>ASubstitution - Missense
ENST00000343811_v68p.L724Pc.2171T>CSubstitution - Missense
KIF24ENSG00000186638ENST00000402558p.K758delKc.2272_2274delAAGDeletion - In frame
RNF113AENSG00000125352ENST00000371442p.S329Pc.985T>CSubstitution - Missense
SEPT9ENSG00000184640ENST00000427180p.G110Gc.330G>ASubstitution - coding silent
GP1BAENSG00000185245ENST00000329125p.F543fs*73c.1627_1628delTTDeletion - Frameshift
PXDNLENSG00000147485ENST00000356297p.R690Wc.2068C>TSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.G91Dc.272G>ASubstitution - Missense
PSPC1ENSG00000121390ENST00000338910p.T225Mc.674C>TSubstitution - Missense
XPO4ENSG00000132953ENST00000255305p.?c.3259-9C>GUnknown
PTGER3ENSG00000050628ENST00000356595p.K323Nc.969A>CSubstitution - Missense
CACNA1CENSG00000151067ENST00000347598p.L736Ic.2206C>ASubstitution - Missense
IVNS1ABPENSG00000116679ENST00000367498p.A496Tc.1486G>ASubstitution - Missense
MAN2A2ENSG00000196547ENST00000360468p.A80Vc.239C>TSubstitution - Missense
POGKENSG00000143157ENST00000367875p.P30Lc.89C>TSubstitution - Missense
ENO4ENSG00000188316ENST00000341276p.K208fs*22c.616_617delAADeletion - Frameshift
ADAMTS4ENSG00000158859ENST00000367996p.H592Hc.1776C>TSubstitution - coding silent
NCKAP5LENSG00000167566ENST00000335999p.E676Kc.2026G>ASubstitution - Missense
SLC37A2ENSG00000134955ENST00000403796p.A76Vc.227C>TSubstitution - Missense
ENST00000357170p.T21Sc.62C>GSubstitution - Missense
METTL25ENSG00000127720ENST00000248306p.C448Rc.1342T>CSubstitution - Missense
MIXL1ENSG00000185155ENST00000366810p.A84Ac.252G>ASubstitution - coding silent
SPRYD7ENSG00000123178ENST00000361840p.N147fs*20c.434_435insAInsertion - Frameshift
PYGLENSG00000100504ENST00000216392p.I463Ic.1389C>TSubstitution - coding silent
CYP3A5ENSG00000106258ENST00000343703p.R18Cc.52C>TSubstitution - Missense
TPOENSG00000115705ENST00000337415p.R206Lc.617G>TSubstitution - Missense
PTGER3ENSG00000050628ENST00000354608p.L90Lc.268C>TSubstitution - coding silent
SMC6ENSG00000163029ENST00000381272p.R178*c.532C>TSubstitution - Nonsense
TMEM207ENSG00000198398ENST00000354905p.?c.304+8G>AUnknown
ASTN2ENSG00000148219ENST00000361209p.S1276Sc.3828A>GSubstitution - coding silent
APBB2ENSG00000163697ENST00000295974p.?c.20-3delcUnknown
FOXP2ENSG00000128573ENST00000403559p.L139Fc.417G>TSubstitution - Missense
ZNF607ENSG00000198182ENST00000355202p.Y365Fc.1094A>TSubstitution - Missense
NM_004505.1p.H470fs*36c.1404delCDeletion - Frameshift
SPATA31D1ENSG00000214929ENST00000344803p.S169Sc.507G>ASubstitution - coding silent
GMIPENSG00000089639ENST00000203556p.R909Wc.2725C>TSubstitution - Missense
NM_004726.1p.L17Lc.51G>ASubstitution - coding silent
SPHKAPENSG00000153820ENST00000392056p.R1663Qc.4988G>ASubstitution - Missense
ZNF773ENSG00000152439ENST00000282292p.F368fs*>75c.1099delTDeletion - Frameshift
MN1ENSG00000169184ENST00000302326p.A1192Tc.3574G>ASubstitution - Missense
ENST00000336674p.A202Vc.605C>TSubstitution - Missense
WDR35ENSG00000118965ENST00000345530p.I850Vc.2548A>GSubstitution - Missense
ENST00000570743p.R1638Hc.4913G>ASubstitution - Missense
MTHFSDENSG00000103248ENST00000322911p.A301Vc.902C>TSubstitution - Missense
SLC26A7ENSG00000147606ENST00000309536p.Q20fs*24c.53delCDeletion - Frameshift
TMEM106BENSG00000106460ENST00000396667p.G43Ac.128G>CSubstitution - Missense
NM_022459.3p.?c.3178-9C>GUnknown
NPHP4ENSG00000131697ENST00000378156p.C1120Yc.3359G>ASubstitution - Missense
LAMC2ENSG00000058085ENST00000264144p.N85Dc.253A>GSubstitution - Missense
PLA2G4EENSG00000188089ENST00000413860p.A39fs*19c.115delGDeletion - Frameshift
GAPTENSG00000175857ENST00000396776p.R40Qc.119G>ASubstitution - Missense
MAXENSG00000125952ENST00000358664p.R60Qc.179G>ASubstitution - Missense
SNRNP200ENSG00000144028ENST00000323853p.R953Qc.2858G>ASubstitution - Missense
TAF1ENSG00000147133ENST00000449580p.A1003Tc.3007G>ASubstitution - Missense
ADD1ENSG00000087274ENST00000398125p.S175Sc.525C>TSubstitution - coding silent
NFATC2ENSG00000101096ENST00000371564p.R252Rc.756G>TSubstitution - coding silent
PRMT1ENSG00000126457ENST00000454376p.?c.412+7C>TUnknown
ENST00000316490p.Y4544*c.13632C>ASubstitution - Nonsense
ZMIZ2ENSG00000122515ENST00000309315p.F604Lc.1812C>ASubstitution - Missense
ARHGEF5ENSG00000050327ENST00000056217p.E200Vc.599A>TSubstitution - Missense
PCDHGC3ENSG00000240184ENST00000308177p.V760Vc.2280G>TSubstitution - coding silent
SLC36A1ENSG00000123643ENST00000243389p.F362Fc.1086T>CSubstitution - coding silent
KIAA1958ENSG00000165185ENST00000374244p.S322Nc.965G>ASubstitution - Missense
NDOR1ENSG00000188566ENST00000344894p.S419Pc.1255T>CSubstitution - Missense
WNK3ENSG00000196632ENST00000354646p.S5Sc.15A>GSubstitution - coding silent
NSUN2ENSG00000037474ENST00000264670p.R264*c.790C>TSubstitution - Nonsense
COL4A3ENSG00000169031ENST00000396578p.G541fs*36c.1616delADeletion - Frameshift
ENST00000381114p.A2622Ac.7866T>GSubstitution - coding silent
ENST00000405167p.D3461Vc.10382A>TSubstitution - Missense
PPP3CAENSG00000138814ENST00000394854p.D118Dc.354C>TSubstitution - coding silent
NLRP12ENSG00000142405ENST00000345770p.N505Nc.1515C>TSubstitution - coding silent
TCFL5ENSG00000101190ENST00000335351p.A371Vc.1112C>TSubstitution - Missense
RPS7ENSG00000171863ENST00000304921p.R81Hc.242G>ASubstitution - Missense
MTMR14ENSG00000163719ENST00000296003p.?c.898-3C>GUnknown
ALS2ENSG00000003393ENST00000264276p.K1294Ec.3880A>GSubstitution - Missense
SVOPLENSG00000157703ENST00000288513p.?c.204+9G>AUnknown
PLECENSG00000178209ENST00000354958p.Q2768Qc.8304A>GSubstitution - coding silent
ILF3ENSG00000129351ENST00000318511p.S281Lc.842C>TSubstitution - Missense
SMC5ENSG00000198887ENST00000361138p.?c.2665-10C>TUnknown
ITGB4ENSG00000132470ENST00000200181p.Y1596Yc.4788C>TSubstitution - coding silent
PTCH1ENSG00000185920ENST00000331920p.?c.2887+9C>TUnknown
GSE1ENSG00000131149ENST00000253458p.R823Lc.2468G>TSubstitution - Missense
ENST00000331986p.H1363Hc.4089T>CSubstitution - coding silent
DZANK1ENSG00000089091ENST00000262547p.I514Lc.1540A>CSubstitution - Missense
ARHGEF7ENSG00000102606ENST00000375736p.L309Pc.926T>CSubstitution - Missense
ZBTB48ENSG00000204859ENST00000377674p.V43Ic.127G>ASubstitution - Missense
PTGER3ENSG00000050628ENST00000460330p.K323Nc.969A>CSubstitution - Missense
STON2ENSG00000140022ENST00000267540p.R341Cc.1021C>TSubstitution - Missense
TMEM81ENSG00000174529ENST00000367167p.V62Ic.184G>ASubstitution - Missense
KMT2AENSG00000118058ENST00000534358p.G2633fs*13c.7890_7891insTInsertion - Frameshift
PCDH15ENSG00000150275ENST00000361849p.K1934Kc.5802G>ASubstitution - coding silent
BRCA2ENSG00000139618ENST00000544455p.N986fs*5c.2951delADeletion - Frameshift
NTRK3ENSG00000140538ENST00000317501p.V451Ic.1351G>ASubstitution - Missense
ACADSBENSG00000196177ENST00000358776p.?c.1128+3_1128+10delaaaaaaaaUnknown
CLEC4AENSG00000111729ENST00000229332p.S197Sc.591T>CSubstitution - coding silent
NABP2ENSG00000139579ENST00000267023p.T40Tc.120C>ASubstitution - coding silent
EPRSENSG00000136628ENST00000366923p.D638Dc.1914C>TSubstitution - coding silent
SACSENSG00000151835ENST00000382298p.K1717fs*8c.5151delADeletion - Frameshift
BCORL1ENSG00000085185ENST00000218147p.P1681fs*20c.5036delCDeletion - Frameshift
ESRP1ENSG00000104413ENST00000358397p.N512fs*2c.1528delADeletion - Frameshift
FCHO2ENSG00000157107ENST00000430046p.N15fs*11c.38delADeletion - Frameshift
DFNB31ENSG00000095397ENST00000374059p.R99Hc.296G>ASubstitution - Missense
FOXP2ENSG00000128573ENST00000393500p.L47Fc.141G>TSubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.?c.2771+4T>CUnknown
ARHGAP33ENSG00000004777ENST00000378944p.L915Lc.2745C>TSubstitution - coding silent
DCTN2ENSG00000175203ENST00000543672p.I125fs*5c.373delADeletion - Frameshift
TANC1ENSG00000115183ENST00000263635p.E828fs*27c.2479delGDeletion - Frameshift
CD97ENSG00000123146ENST00000242786p.A744Ac.2232G>TSubstitution - coding silent
ZNF213ENSG00000085644ENST00000574902p.T95Tc.285A>CSubstitution - coding silent
CCT8L2ENSG00000198445ENST00000359963p.L116Pc.347T>CSubstitution - Missense
ZNF717ENSG00000227124ENST00000422325p.T558fs*6c.1670_1839del170Deletion - Frameshift
SPECC1ENSG00000128487ENST00000395527p.A798Tc.2392G>ASubstitution - Missense
FAM199XENSG00000123575ENST00000493442p.S281Gc.841A>GSubstitution - Missense
NOSIPENSG00000142546ENST00000391853p.P297Pc.891G>ASubstitution - coding silent
NFATC2ENSG00000101096ENST00000396009p.R252Rc.756G>TSubstitution - coding silent
NSMAFENSG00000035681ENST00000038176p.I85fs*1c.253delADeletion - Frameshift
FSIP2ENSG00000188738ENST00000343098p.I1230Rc.3689T>GSubstitution - Missense
ARHGAP11AENSG00000198826ENST00000361627p.V546Lc.1636G>TSubstitution - Missense
ARHGEF7ENSG00000102606ENST00000317133p.L466Pc.1397T>CSubstitution - Missense
GON4LENSG00000116580ENST00000437809p.S1561Sc.4683A>GSubstitution - coding silent
VPS13CENSG00000129003ENST00000261517p.R2921fs*1c.8760_8761insTGInsertion - Frameshift
MTORENSG00000198793ENST00000361445p.Y2088Yc.6264C>TSubstitution - coding silent
KCNC2ENSG00000166006ENST00000549446p.W430*c.1290G>ASubstitution - Nonsense
ENSG00000205148ENST00000378936p.K36Tc.107A>CSubstitution - Missense
POU2F3ENSG00000137709ENST00000260264p.V324Ac.971T>CSubstitution - Missense
CD44ENSG00000026508ENST00000428726p.S434Nc.1301G>ASubstitution - Missense
TMC7ENSG00000170537ENST00000304381p.R297Qc.890G>ASubstitution - Missense
ZMPSTE24ENSG00000084073ENST00000372759p.N326fs*8c.973delADeletion - Frameshift
CCSENSG00000173992ENST00000533244p.I259Ic.777C>TSubstitution - coding silent
SCCPDHENSG00000143653ENST00000366510p.G305Rc.913G>ASubstitution - Missense
SLC38A4ENSG00000139209ENST00000266579p.A531Tc.1591G>ASubstitution - Missense
SLCO2B1ENSG00000137491ENST00000289575p.A630Tc.1888G>ASubstitution - Missense
UVRAGENSG00000198382ENST00000356136p.A49Ac.147T>CSubstitution - coding silent
KDELC1ENSG00000134901ENST00000376004p.L402Lc.1206G>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.A5674fs*3c.17014_17015insGInsertion - Frameshift
OBSCNENSG00000154358ENST00000359599p.V344Lc.1030G>CSubstitution - Missense
ZDHHC16ENSG00000171307ENST00000393760p.A280Tc.838G>ASubstitution - Missense
NRP1ENSG00000099250ENST00000374816p.T349Nc.1046C>ASubstitution - Missense
DNAH11ENSG00000105877ENST00000328843p.T776Mc.2327C>TSubstitution - Missense
PLECENSG00000178209ENST00000356346p.Q2776Qc.8328A>GSubstitution - coding silent
ZNF337ENSG00000130684ENST00000376436p.R635Qc.1904G>ASubstitution - Missense
LRRC10ENSG00000198812ENST00000361484p.D248Nc.742G>ASubstitution - Missense
MRPL4ENSG00000105364ENST00000590669p.R76Rc.228C>TSubstitution - coding silent
IDEENSG00000119912ENST00000436178p.L102fs*43c.305delTDeletion - Frameshift
MTA1ENSG00000182979ENST00000435036p.S179fs*18c.526_527insGInsertion - Frameshift
ENST00000326873_v70p.S193Sc.579C>TSubstitution - coding silent
ENST00000204005_v70p.Q74Qc.222G>ASubstitution - coding silent
ARHGEF11ENSG00000132694ENST00000368194p.R73Wc.217C>TSubstitution - Missense
PADI2ENSG00000117115ENST00000375486p.G421Dc.1262G>ASubstitution - Missense
FNIP2ENSG00000052795ENST00000264433p.R67Wc.199C>TSubstitution - Missense
ILVBLENSG00000105135ENST00000263383p.V402Vc.1206G>ASubstitution - coding silent
ILVBLENSG00000105135ENST00000263383p.R110Cc.328C>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
ABCF1ENSG00000204574ENST00000326195p.Q72_Q73delQQc.199_204delCAGCAADeletion - In frame
ZNF211ENSG00000121417ENST00000407202p.A215Ac.645C>TSubstitution - coding silent
PTPRKENSG00000152894ENST00000368213p.Y892Cc.2675A>GSubstitution - Missense
SLFN5ENSG00000166750ENST00000299977p.M744Ic.2232G>TSubstitution - Missense
STK32AENSG00000169302ENST00000397936p.?c.473-3C>TUnknown
MECOMENSG00000085276ENST00000392736p.R727Qc.2180G>ASubstitution - Missense
SMG8ENSG00000167447ENST00000300917p.R606Qc.1817G>ASubstitution - Missense
COL14A1ENSG00000187955ENST00000297848p.I1352Nc.4055T>ASubstitution - Missense
ATP8B3ENSG00000130270ENST00000539485p.I360fs*2c.1078delADeletion - Frameshift
ATG16L1ENSG00000085978ENST00000392017p.A528Vc.1583C>TSubstitution - Missense
DTNBP1ENSG00000047579ENST00000338950p.L216Lc.648G>ASubstitution - coding silent
WTAPENSG00000146457ENST00000358372p.A159Vc.476C>TSubstitution - Missense
OTCENSG00000036473ENST00000039007p.D147Hc.439G>CSubstitution - Missense
PLP2ENSG00000102007ENST00000376327p.L59Lc.177T>CSubstitution - coding silent
LILRB3ENSG00000204577ENST00000391750p.P364Lc.1091C>TSubstitution - Missense
MTHFSDENSG00000103248ENST00000381214p.A302Vc.905C>TSubstitution - Missense
SOWAHBENSG00000186212ENST00000334306p.K705Rc.2114A>GSubstitution - Missense
RBL2ENSG00000103479ENST00000262133p.Q171fs*47c.506delTDeletion - Frameshift
TLR6ENSG00000174130ENST00000381950p.C222Cc.666C>TSubstitution - coding silent
PCDHB11ENSG00000197479ENST00000354757p.N463Sc.1388A>GSubstitution - Missense
COBLENSG00000106078ENST00000265136p.V651Vc.1953G>ASubstitution - coding silent
MSH2ENSG00000095002ENST00000233146p.?c.942+3_942+10delaaaaaaaaUnknown
TRPM6ENSG00000119121ENST00000451710p.E1150Ec.3450G>ASubstitution - coding silent
C9orf84ENSG00000165181ENST00000394779p.N1336Nc.4008T>CSubstitution - coding silent
RAD51CENSG00000108384ENST00000337432p.K188Kc.564G>ASubstitution - coding silent
NDOR1ENSG00000188566ENST00000371521p.S419Pc.1255T>CSubstitution - Missense
CSPG5ENSG00000114646ENST00000264723p.R371Qc.1112G>ASubstitution - Missense
TSHZ1ENSG00000179981ENST00000322038p.T920Ic.2759C>TSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.F504Lc.1510T>CSubstitution - Missense
ZNF429ENSG00000197013ENST00000358491p.Q174Qc.522G>ASubstitution - coding silent
PEX6ENSG00000124587ENST00000304611p.?c.1368-4G>AUnknown
PLXNA3ENSG00000130827ENST00000369682p.L1230fs*56c.3684delTDeletion - Frameshift
NME4ENSG00000103202ENST00000219479p.?c.441-9C>GUnknown
LILRA6ENSG00000244482ENST00000396365p.P364Lc.1091C>TSubstitution - Missense
ALKENSG00000171094ENST00000389048p.K1109Nc.3327G>TSubstitution - Missense
LCLAT1ENSG00000172954ENST00000309052p.Q274Rc.821A>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.G13702Dc.41105G>ASubstitution - Missense
UBXN2AENSG00000173960ENST00000309033p.F202Lc.604T>CSubstitution - Missense
SAMD9ENSG00000205413ENST00000379958p.K1279fs*26c.3837delADeletion - Frameshift
ABCC12ENSG00000140798ENST00000311303p.R122Hc.365G>ASubstitution - Missense
REEP4ENSG00000168476ENST00000306306p.A129Ac.387C>TSubstitution - coding silent
EPN2ENSG00000072134ENST00000314728p.?c.1412-3T>CUnknown
ENST00000391849p.T173Tc.519G>ASubstitution - coding silent
MROH8ENSG00000101353ENST00000343811p.L724Pc.2171T>CSubstitution - Missense
RBBP9ENSG00000089050ENST00000337227p.*187Kc.559T>ANonstop extension
TMEM50AENSG00000183726ENST00000374358p.?c.206+1G>CUnknown
CACNA1CENSG00000151067ENST00000402845p.L766Ic.2296C>ASubstitution - Missense
GON4LENSG00000116580ENST00000437809p.S1561Sc.4683A>GSubstitution - coding silent
ZNF687ENSG00000143373ENST00000324048p.M712Tc.2135T>CSubstitution - Missense
TCHHENSG00000159450ENST00000368804p.D1335fs*88c.4005_4008delCAGADeletion - Frameshift
IGSF9BENSG00000080854ENST00000321016p.P611Lc.1832C>TSubstitution - Missense
PLXNC1ENSG00000136040ENST00000258526p.D876fs*3c.2619_2620insAInsertion - Frameshift
ACANENSG00000157766ENST00000439576p.T232Mc.695C>TSubstitution - Missense
USH2AENSG00000042781ENST00000307340p.H1598Nc.4792C>ASubstitution - Missense
CLK3ENSG00000179335ENST00000345005p.L274Vc.820C>GSubstitution - Missense
DRAXINENSG00000162490ENST00000294485p.L288Mc.862C>ASubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.K1736fs*14c.5206delADeletion - Frameshift
USP48ENSG00000090686ENST00000308271p.Y688Yc.2064C>TSubstitution - coding silent
CDC42BPAENSG00000143776ENST00000334218p.L874Lc.2622G>ASubstitution - coding silent
PPP1R26ENSG00000196422ENST00000356818p.V898fs*56c.2687delGDeletion - Frameshift
MYO7AENSG00000137474ENST00000409709p.H133fs*13c.391delCDeletion - Frameshift
SLC17A5ENSG00000119899ENST00000355773p.W282Cc.846G>TSubstitution - Missense
ENST00000328843_v70p.T776Mc.2327C>TSubstitution - Missense
RAF1ENSG00000132155ENST00000442415p.A649Sc.1945G>TSubstitution - Missense
BMPR1BENSG00000138696ENST00000440890p.T54fs*33c.155delCDeletion - Frameshift
USH2AENSG00000042781ENST00000366943p.C817Yc.2450G>ASubstitution - Missense
NFIAENSG00000162599ENST00000371191p.F509Fc.1527C>TSubstitution - coding silent
C11orf54ENSG00000182919ENST00000331239p.F93Sc.278T>CSubstitution - Missense
MYO16ENSG00000041515ENST00000251041p.G570Rc.1708G>ASubstitution - Missense
BRICD5ENSG00000182685ENST00000328540p.?c.593-1G>TUnknown
SLC22A7ENSG00000137204ENST00000372585p.G271Dc.812G>ASubstitution - Missense
DPP4ENSG00000197635ENST00000360534p.?c.286-9G>AUnknown
ARHGEF33ENSG00000214694ENST00000398800p.D489Nc.1465G>ASubstitution - Missense
ZCCHC6ENSG00000083223ENST00000375963p.K937fs*26c.2811_2835>21Unknown
MGAT3ENSG00000128268ENST00000341184p.R224Hc.671G>ASubstitution - Missense
TAF1ENSG00000147133ENST00000373790p.A1003Tc.3007G>ASubstitution - Missense
ENST00000373108p.S267fs*4c.798delGDeletion - Frameshift
MAD2L1ENSG00000164109ENST00000296509p.K166fs*28c.498delADeletion - Frameshift
SSC5DENSG00000179954ENST00000389623p.T1367Tc.4101C>ASubstitution - coding silent
ZNF547ENSG00000152433ENST00000282282p.Q125Rc.374A>GSubstitution - Missense
WDR36ENSG00000134987ENST00000506538p.D179Dc.537T>CSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.G20074Dc.60221G>ASubstitution - Missense
HDAC4ENSG00000068024ENST00000345617p.S758Gc.2272A>GSubstitution - Missense
PLCE1ENSG00000138193ENST00000371375p.T384Ic.1151C>TSubstitution - Missense
SU_OBSCN.1p.V344Lc.1030G>CSubstitution - Missense
PFKPENSG00000067057ENST00000381125p.A427Vc.1280C>TSubstitution - Missense
EVC2ENSG00000173040ENST00000344408p.T290Mc.869C>TSubstitution - Missense
RFX6ENSG00000185002ENST00000332958p.Y834fs*11c.2494delCDeletion - Frameshift
MAP7D1ENSG00000116871ENST00000373151p.C481fs*94c.1436delCDeletion - Frameshift
PTPREENSG00000132334ENST00000254667p.R18Mc.53G>TSubstitution - Missense
WDR55ENSG00000120314ENST00000358337p.K341fs*8c.1015delADeletion - Frameshift
RPL22ENSG00000116251ENST00000234875p.K15fs*5c.44delADeletion - Frameshift
PLXNB3ENSG00000198753ENST00000538282p.R558Qc.1673G>ASubstitution - Missense
IL34ENSG00000157368ENST00000288098p.T102Ac.304A>GSubstitution - Missense
BRICD5ENSG00000182685ENST00000562360p.G230Wc.688G>TSubstitution - Missense
ENST00000378024_v70p.I5155fs*4c.15458_15459insAInsertion - Frameshift
WSCD2ENSG00000075035ENST00000261400p.R394Wc.1180C>TSubstitution - Missense
RFX1ENSG00000132005ENST00000254325p.M906Vc.2716A>GSubstitution - Missense
EPHA1ENSG00000146904ENST00000275815p.R715Mc.2144G>TSubstitution - Missense
NMRK2ENSG00000077009ENST00000168977p.?c.324-6G>TUnknown
MAP4K1ENSG00000104814ENST00000396857p.?c.370-2A>CUnknown
ENST00000316490_v65p.Y4592*c.13776C>ASubstitution - Nonsense
HDAC5ENSG00000108840ENST00000393622p.V298Vc.894T>ASubstitution - coding silent
LPCAT1ENSG00000153395ENST00000283415p.P230Pc.690C>TSubstitution - coding silent
C9orf84ENSG00000165181ENST00000374287p.N1375Nc.4125T>CSubstitution - coding silent
SLC12A2ENSG00000064651ENST00000262461p.F477Fc.1431T>CSubstitution - coding silent
ATG5ENSG00000057663ENST00000343245p.T21Tc.63G>ASubstitution - coding silent
TAF1ENSG00000147133ENST00000373790p.C305Rc.913T>CSubstitution - Missense
TBC1D24ENSG00000162065ENST00000567020p.G257Wc.769G>TSubstitution - Missense
ENST00000328380p.G541fs*36c.1616delADeletion - Frameshift
NM_053025p.G766Dc.2297G>ASubstitution - Missense
ENST00000222607p.Q144Qc.432G>ASubstitution - coding silent
HID1ENSG00000167861ENST00000425042p.I539Tc.1616T>CSubstitution - Missense
CCDC106ENSG00000173581ENST00000308964p.S268Nc.803G>ASubstitution - Missense
MTTPENSG00000138823ENST00000265517p.G722Gc.2166C>TSubstitution - coding silent
ANKRD30BENSG00000180777ENST00000358984p.P696Sc.2086C>TSubstitution - Missense
ENST00000273600p.N4133delNc.12392_12394delACADeletion - In frame
ZKSCAN5ENSG00000196652ENST00000394170p.R451Hc.1352G>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.L1450Rc.4349T>GSubstitution - Missense
CCINENSG00000185972ENST00000335119p.L342Mc.1024C>ASubstitution - Missense
TAOK1ENSG00000160551ENST00000261716p.?c.656-1G>TUnknown
STK3ENSG00000104375ENST00000419617p.F491Fc.1473T>CSubstitution - coding silent
TEX13BENSG00000170925ENST00000302917p.T262Ac.784A>GSubstitution - Missense
UNC80ENSG00000144406ENST00000439458p.S298Sc.894T>CSubstitution - coding silent
PTGER3ENSG00000050628ENST00000306666p.K323Nc.969A>CSubstitution - Missense
MAN1C1ENSG00000117643ENST00000374332p.?c.754-3C>TUnknown
BSNDENSG00000162399ENST00000371265p.G71Vc.212G>TSubstitution - Missense
SETD8ENSG00000183955ENST00000330479p.A171fs*36c.504delADeletion - Frameshift
PLA2G2FENSG00000158786ENST00000375102p.F118Sc.353T>CSubstitution - Missense
SIDT2ENSG00000149577ENST00000324225p.P261Sc.781C>TSubstitution - Missense
SMAD9ENSG00000120693ENST00000350148p.T287Mc.860C>TSubstitution - Missense
KLRG1ENSG00000139187ENST00000356986p.?c.458+9C>AUnknown
TRIM17ENSG00000162931ENST00000366697p.E200delEc.597_599delAGADeletion - In frame
BTAF1ENSG00000095564ENST00000265990p.Y1359Hc.4075T>CSubstitution - Missense
SORBS1ENSG00000095637ENST00000371228p.L282Pc.845T>CSubstitution - Missense
ANKRD30AENSG00000148513ENST00000602533p.I1134Tc.3401T>CSubstitution - Missense
ZCCHC11ENSG00000134744ENST00000257177p.R1634Cc.4900C>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.K2442fs*2c.7325delADeletion - Frameshift
JMJD1CENSG00000171988ENST00000399262p.A1033Vc.3098C>TSubstitution - Missense
TMEM242ENSG00000215712ENST00000367144p.A90Vc.269C>TSubstitution - Missense
RABL6ENSG00000196642ENST00000371671p.G181Dc.542G>ASubstitution - Missense
FUT10ENSG00000172728ENST00000335589p.G245Rc.733G>ASubstitution - Missense
CENPKENSG00000123219ENST00000396679p.T78fs*7c.232delADeletion - Frameshift
GALNT13ENSG00000144278ENST00000409237p.T214Kc.641C>ASubstitution - Missense
NOBOXENSG00000106410ENST00000467773p.A426Tc.1276G>ASubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.R503Qc.1508G>ASubstitution - Missense
THG1LENSG00000113272ENST00000231198p.A87Vc.260C>TSubstitution - Missense
PRKRIRENSG00000137492ENST00000260045p.L114Lc.340C>TSubstitution - coding silent
USH2AENSG00000042781ENST00000307340p.C817Yc.2450G>ASubstitution - Missense
POLR3BENSG00000013503ENST00000228347p.R1046Hc.3137G>ASubstitution - Missense
DNAH14ENSG00000185842ENST00000445597p.K1326fs*19c.3976delADeletion - Frameshift
ASH1LENSG00000116539ENST00000392403p.K1222fs*11c.3665delADeletion - Frameshift
ZBTB16ENSG00000109906ENST00000335953p.A501Ac.1503G>ASubstitution - coding silent
ADAM33ENSG00000149451ENST00000356518p.A455fs*14c.1363delGDeletion - Frameshift
OR4A15ENSG00000181958ENST00000314706p.M87fs*11c.254delCDeletion - Frameshift
TMEM52BENSG00000165685ENST00000298530p.W26Rc.76T>CSubstitution - Missense
SPDYE3ENSG00000214300ENST00000332397p.S418Sc.1254A>GSubstitution - coding silent
CDH8ENSG00000150394ENST00000577390p.S600Rc.1800C>ASubstitution - Missense
NM_006218.1p.E542Kc.1624G>ASubstitution - Missense
ZFP37ENSG00000136866ENST00000553380p.C621Cc.1863T>CSubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.H1598Nc.4792C>ASubstitution - Missense
ZNF687ENSG00000143373ENST00000368879p.M712Tc.2135T>CSubstitution - Missense
ASTN2ENSG00000148219ENST00000361477p.S379Sc.1137A>GSubstitution - coding silent
SLIT3ENSG00000184347ENST00000519560p.C729Cc.2187C>TSubstitution - coding silent
CPEB4ENSG00000113742ENST00000265085p.F210Sc.629T>CSubstitution - Missense
LETM1ENSG00000168924ENST00000302787p.G99*c.295G>TSubstitution - Nonsense
KIAA0947ENSG00000164151ENST00000296564p.Q2213Qc.6639G>ASubstitution - coding silent
NSD1ENSG00000165671ENST00000439151p.R2199Cc.6595C>TSubstitution - Missense
FSD1ENSG00000105255ENST00000221856p.A368Vc.1103C>TSubstitution - Missense
RNPS1ENSG00000205937ENST00000397086p.D33Dc.99C>TSubstitution - coding silent
MTSS1LENSG00000132613ENST00000338779p.T317Tc.951C>ASubstitution - coding silent
ACTR3CENSG00000106526ENST00000252071p.L194Rc.581T>GSubstitution - Missense
RXRAENSG00000186350ENST00000481739p.L111fs*70c.324_325insCInsertion - Frameshift
CACFD1ENSG00000160325ENST00000540581p.A130Tc.388G>ASubstitution - Missense
DIAPH1ENSG00000131504ENST00000398557p.A251Tc.751G>ASubstitution - Missense
PCDHGA8ENSG00000253767ENST00000398604p.R151Lc.452G>TSubstitution - Missense
PHC3ENSG00000173889ENST00000495893p.H427Hc.1281T>CSubstitution - coding silent
SAR1BENSG00000152700ENST00000402673p.S179Nc.536G>ASubstitution - Missense
RTTNENSG00000176225ENST00000255674p.Q79Hc.237A>TSubstitution - Missense
APOL4ENSG00000100336ENST00000352371p.R222Rc.666T>CSubstitution - coding silent
ZNF462ENSG00000148143ENST00000457913p.N2560Dc.7678A>GSubstitution - Missense
EDAENSG00000158813ENST00000374552p.S66Sc.198G>ASubstitution - coding silent
HOMER1ENSG00000152413ENST00000334082p.N317Dc.949A>GSubstitution - Missense
SLC26A8ENSG00000112053ENST00000355574p.P924fs*>47c.2769delTDeletion - Frameshift
AGAP1ENSG00000157985ENST00000304032p.L42Mc.124C>ASubstitution - Missense
ARID1BENSG00000049618ENST00000275248p.D1807fs*1c.5417_5418insGInsertion - Frameshift
IL1RL1ENSG00000115602ENST00000233954p.T86Ac.256A>GSubstitution - Missense
SLC39A10ENSG00000196950ENST00000359634p.?c.1386+6A>CUnknown
CHN1ENSG00000128656ENST00000409900p.D100Dc.300T>CSubstitution - coding silent
TTC32ENSG00000183891ENST00000333610p.L30Pc.89T>CSubstitution - Missense
MGAMENSG00000257335ENST00000549489p.G294Gc.882A>GSubstitution - coding silent
CYP3A5ENSG00000106258ENST00000222982p.R28Cc.82C>TSubstitution - Missense
DOCK3ENSG00000088538ENST00000266037p.S1829Fc.5486C>TSubstitution - Missense
SIT1ENSG00000137078ENST00000259608p.?c.237-9G>AUnknown
SLC40A1ENSG00000138449ENST00000261024p.I426Ic.1278T>CSubstitution - coding silent
TFPIENSG00000003436ENST00000392365p.M103fs*6c.307_308insAInsertion - Frameshift
KDM5BENSG00000117139ENST00000367265p.D606Vc.1817A>TSubstitution - Missense
PTERENSG00000165983ENST00000378000p.I269Tc.806T>CSubstitution - Missense
CADM1ENSG00000182985ENST00000452722p.G188Dc.563G>ASubstitution - Missense
ASAH2ENSG00000188611ENST00000395526p.T33Sc.97A>TSubstitution - Missense
FAM170BENSG00000172538ENST00000311787p.C96Cc.288C>TSubstitution - coding silent
HYOU1ENSG00000149428ENST00000404233p.G41Gc.123C>GSubstitution - coding silent
ATMENSG00000149311ENST00000278616p.G2718Gc.8154C>TSubstitution - coding silent
RBM25ENSG00000119707ENST00000261973p.Q563Hc.1689G>TSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.H1259Yc.3775C>TSubstitution - Missense
TRIM62ENSG00000116525ENST00000291416p.V350Ic.1048G>ASubstitution - Missense
PANK4ENSG00000157881ENST00000378466p.F567Lc.1701C>ASubstitution - Missense
ATG16L2ENSG00000168010ENST00000321297p.?c.1246-9G>AUnknown
TEP1ENSG00000129566ENST00000262715p.D1370Nc.4108G>ASubstitution - Missense
SUPT16HENSG00000092201ENST00000216297p.R693*c.2077C>TSubstitution - Nonsense
SLCO1A2ENSG00000084453ENST00000390670p.F576fs*>4c.1728delTDeletion - Frameshift
SEMA5AENSG00000112902ENST00000382496p.C96Sc.287G>CSubstitution - Missense
PLS1ENSG00000120756ENST00000337777p.?c.1506-3C>TUnknown
ERV3-1ENSG00000213462ENST00000394323p.E310Dc.930A>CSubstitution - Missense
KLHL29ENSG00000119771ENST00000486442p.S188fs*12c.557delCDeletion - Frameshift
IL1RL1ENSG00000115602ENST00000311734p.T86Ac.256A>GSubstitution - Missense
FRAS1ENSG00000138759ENST00000325942p.K630fs*67c.1881delCDeletion - Frameshift
NRBP1ENSG00000115216ENST00000233557p.R506Wc.1516C>TSubstitution - Missense
AMIGO3ENSG00000176020ENST00000320431p.A290Ac.870G>ASubstitution - coding silent
NOD2ENSG00000167207ENST00000300589p.D529fs*50c.1583_1584insCInsertion - Frameshift
CARM1ENSG00000142453ENST00000327064p.A594Pc.1780G>CSubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.?c.2884+9C>TUnknown
TENM1ENSG00000009694ENST00000371130p.?c.2771+4T>CUnknown
JAG1ENSG00000101384ENST00000254958p.G175Gc.525C>TSubstitution - coding silent
WACENSG00000095787ENST00000428935p.I341Kc.1022T>ASubstitution - Missense
ENST00000417177p.K1941Kc.5823G>ASubstitution - coding silent
SMAD9ENSG00000120693ENST00000379826p.T324Mc.971C>TSubstitution - Missense
SEC61A2ENSG00000065665ENST00000298428p.V362Ic.1084G>ASubstitution - Missense
CIDEBENSG00000136305ENST00000336557p.G384Gc.1152T>CSubstitution - coding silent
OR6C76ENSG00000185821ENST00000328314p.A234fs*66c.692_693insAInsertion - Frameshift
SBF2ENSG00000133812ENST00000256190p.I291Ic.873C>TSubstitution - coding silent
SLC9C1ENSG00000172139ENST00000305815p.F10fs*11c.29delTDeletion - Frameshift
KLHL1ENSG00000150361ENST00000377844p.V458Vc.1374C>TSubstitution - coding silent
ZSCAN21ENSG00000166529ENST00000543588p.E29Gc.86A>GSubstitution - Missense
USH2AENSG00000042781ENST00000366942p.C817Yc.2450G>ASubstitution - Missense
INTS3ENSG00000143624ENST00000456435p.A490Vc.1469C>TSubstitution - Missense
CRIP3ENSG00000146215ENST00000274990p.E165Gc.494A>GSubstitution - Missense
LPPENSG00000145012ENST00000312675p.?c.1114-9G>AUnknown
AQP8ENSG00000103375ENST00000219660p.L65Lc.195G>ASubstitution - coding silent
KYNUENSG00000115919ENST00000375773p.Y277Hc.829T>CSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Ac.418T>GSubstitution - Missense
LTBP4ENSG00000090006ENST00000308370p.Q111Qc.333G>ASubstitution - coding silent
BZRAP1ENSG00000005379ENST00000355701p.G1378Dc.4133G>ASubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.F1363fs*5c.4089delTDeletion - Frameshift
SLC27A6ENSG00000113396ENST00000262462p.R50Kc.149G>ASubstitution - Missense
FAM172AENSG00000113391ENST00000395965p.G158Sc.472G>ASubstitution - Missense
DSTENSG00000151914ENST00000244364p.L1173fs*8c.3518delTDeletion - Frameshift
LIN28BENSG00000187772ENST00000345080p.N163Nc.489C>TSubstitution - coding silent
EDAENSG00000158813ENST00000374552p.S66Sc.198G>ASubstitution - coding silent
UGGT1ENSG00000136731ENST00000259253p.P1496Lc.4487C>TSubstitution - Missense
AGPAT4ENSG00000026652ENST00000320285p.L6Lc.18G>ASubstitution - coding silent
DDX28ENSG00000182810ENST00000332395p.V40Gc.119T>GSubstitution - Missense
NKTRENSG00000114857ENST00000232978p.P1255Sc.3763C>TSubstitution - Missense
ACOX3ENSG00000087008ENST00000356406p.G694Ec.2081G>ASubstitution - Missense
FRAS1ENSG00000138759ENST00000264895p.K630fs*67c.1881delCDeletion - Frameshift
TTNENSG00000155657ENST00000342992p.A9398Ac.28194A>CSubstitution - coding silent
SLCO5A1ENSG00000137571ENST00000260126p.A743Vc.2228C>TSubstitution - Missense
UBN2ENSG00000157741ENST00000288561p.Q549Qc.1647G>ASubstitution - coding silent
C7orf55-LUC7L2ENSG00000146963ENST00000354926p.E124Ac.371A>CSubstitution - Missense
SLC39A6ENSG00000141424ENST00000269187p.E640Ec.1920A>GSubstitution - coding silent
XM_291314.4p.R485*c.1453C>TSubstitution - Nonsense
APTXENSG00000137074ENST00000379813p.E232fs*3c.694delGDeletion - Frameshift
MUC16ENSG00000181143ENST00000397910p.R13120Qc.39359G>ASubstitution - Missense
UPF3BENSG00000125351ENST00000276201p.L274Lc.822G>ASubstitution - coding silent
MPP5ENSG00000072415ENST00000261681p.H513Yc.1537C>TSubstitution - Missense
C6ENSG00000039537ENST00000263413p.?c.2620_2623+2delTCAGgtUnknown
ENST00000322367p.L271Ic.811C>ASubstitution - Missense
RUSC1ENSG00000160753ENST00000368347p.P2Tc.4C>ASubstitution - Missense
ASAH2ENSG00000188611ENST00000395526p.T52Sc.154A>TSubstitution - Missense
ABTB2ENSG00000166016ENST00000298992p.S811Sc.2433C>TSubstitution - coding silent
MFAP2ENSG00000117122ENST00000375535p.Y48Hc.142T>CSubstitution - Missense
MTA1ENSG00000182979ENST00000331320p.S639fs*18c.1906_1907insGInsertion - Frameshift
HOMEZENSG00000215271ENST00000357460p.G310Gc.930C>ASubstitution - coding silent
CHD8ENSG00000100888ENST00000399982p.R2352fs*3c.7054delCDeletion - Frameshift
CCND1ENSG00000110092ENST00000227507p.L283_D294del12c.841_876del36Deletion - In frame
DNAH17ENSG00000187775ENST00000389840p.K1873Rc.5618A>GSubstitution - Missense
CYP26A1ENSG00000095596ENST00000224356p.A245Vc.734C>TSubstitution - Missense
CLDN1ENSG00000163347ENST00000295522p.Q63Kc.187C>ASubstitution - Missense
KYNUENSG00000115919ENST00000264170p.Y277Hc.829T>CSubstitution - Missense
PCDHB7ENSG00000113212ENST00000231137p.R672Rc.2016G>TSubstitution - coding silent
PCDHB7ENSG00000113212ENST00000231137p.D679Ac.2036A>CSubstitution - Missense
ARHGAP33ENSG00000004777ENST00000314737p.L918Lc.2754C>TSubstitution - coding silent
SMAP1ENSG00000112305ENST00000370455p.T437Tc.1311C>GSubstitution - coding silent
TUBGCP6ENSG00000128159ENST00000248846p.D1528Dc.4584C>TSubstitution - coding silent
PAPD7ENSG00000112941ENST00000230859p.K91Kc.273G>ASubstitution - coding silent
ATP8B3ENSG00000130270ENST00000525591p.I313fs*2c.937delADeletion - Frameshift
PLXND1ENSG00000004399ENST00000324093p.P469Tc.1405C>ASubstitution - Missense
IRAK1ENSG00000184216ENST00000369980p.V346Vc.1038C>TSubstitution - coding silent
DQX1ENSG00000144045ENST00000393951p.G576*c.1726G>TSubstitution - Nonsense
PUM2ENSG00000055917ENST00000338086p.S988Nc.2963G>ASubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.Y2371Fc.7112A>TSubstitution - Missense
ENST00000356127p.A9398Ac.28194A>CSubstitution - coding silent
TRIM24ENSG00000122779ENST00000343526p.R871*c.2611C>TSubstitution - Nonsense
MGAMENSG00000257335ENST00000549489p.G294Gc.882A>GSubstitution - coding silent
UGT2B15ENSG00000196620ENST00000338206p.R470Hc.1409G>ASubstitution - Missense
MITFENSG00000187098ENST00000314589p.P143Pc.429A>GSubstitution - coding silent
DDRGK1ENSG00000198171ENST00000354488p.P273fs*>42c.818delCDeletion - Frameshift
NXF3ENSG00000147206ENST00000395065p.T502Ac.1504A>GSubstitution - Missense
FSIP2ENSG00000188738ENST00000343098p.I1230Rc.3689T>GSubstitution - Missense
PTGER4ENSG00000171522ENST00000302472p.R16Qc.47G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000399617p.L736Ic.2206C>ASubstitution - Missense
KIF21BENSG00000116852ENST00000332129p.R715Wc.2143C>TSubstitution - Missense
PARNENSG00000140694ENST00000437198p.S402Sc.1206C>TSubstitution - coding silent
NM_005933.1p.G2630fs*13c.7881_7882insTInsertion - Frameshift
PDZD3ENSG00000172367ENST00000531114p.E207Ec.621A>GSubstitution - coding silent
FAM171A1ENSG00000148468ENST00000378116p.P579Sc.1735C>TSubstitution - Missense
SZT2ENSG00000198198ENST00000562955p.H2101Yc.6301C>TSubstitution - Missense
NM_013266.1p.?c.1977+9C>TUnknown
SEC23IPENSG00000107651ENST00000369075p.Q85Kc.253C>ASubstitution - Missense
POMPENSG00000132963ENST00000380842p.P44Sc.130C>TSubstitution - Missense
FOXG1ENSG00000176165ENST00000382535p.N214Sc.641A>GSubstitution - Missense
NTRK3ENSG00000140538ENST00000360948p.V451Ic.1351G>ASubstitution - Missense
ATP2B1ENSG00000070961ENST00000261173p.D214Yc.640G>TSubstitution - Missense
TBC1D10AENSG00000099992ENST00000215790p.G173fs*11c.518delGDeletion - Frameshift
PCLOENSG00000186472ENST00000333891p.K2442fs*2c.7325delADeletion - Frameshift
ARID1AENSG00000117713ENST00000324856p.R1276*c.3826C>TSubstitution - Nonsense
TTKENSG00000112742ENST00000369798p.K857fs?c.2565delADeletion - Frameshift
PLECENSG00000178209ENST00000354589p.Q2790Qc.8370A>GSubstitution - coding silent
CYP4A22ENSG00000162365ENST00000371890p.N329Sc.986A>GSubstitution - Missense
DDRGK1ENSG00000198171ENST00000380201p.G239Gc.717C>TSubstitution - coding silent
PLXND1ENSG00000004399ENST00000393239p.P469Tc.1405C>ASubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.P1855Lc.5564C>TSubstitution - Missense
PRMT1ENSG00000126457ENST00000454376p.R84Qc.251G>ASubstitution - Missense
GAD2ENSG00000136750ENST00000428517p.A72Vc.215C>TSubstitution - Missense
SLIT3ENSG00000184347ENST00000519560p.R1495Wc.4483C>TSubstitution - Missense
SATB1ENSG00000182568ENST00000338745p.V396Mc.1186G>ASubstitution - Missense
CDK5RAP2ENSG00000136861ENST00000349780p.E444Kc.1330G>ASubstitution - Missense
CPAMD8ENSG00000160111ENST00000291440p.G1230Rc.3688G>CSubstitution - Missense
ABCA3ENSG00000167972ENST00000301732p.V93Ic.277G>ASubstitution - Missense
MMP11ENSG00000099953ENST00000215743p.A300Vc.899C>TSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
EBF1ENSG00000164330ENST00000313708p.R365Qc.1094G>ASubstitution - Missense
SLC26A4ENSG00000091137ENST00000265715p.N382Nc.1146C>TSubstitution - coding silent
TNS3ENSG00000136205ENST00000311160p.T386Ac.1156A>GSubstitution - Missense
USP13ENSG00000058056ENST00000263966p.I633fs*5c.1896_1897insCInsertion - Frameshift
LIG3ENSG00000005156ENST00000378526p.P754Tc.2260C>ASubstitution - Missense
RAPGEF1ENSG00000107263ENST00000372190p.D716Gc.2147A>GSubstitution - Missense
ENST00000359737p.P442Sc.1324C>TSubstitution - Missense
PAPD4ENSG00000164329ENST00000296783p.Q228fs*7c.674_675insTInsertion - Frameshift
AP3D1ENSG00000065000ENST00000355272p.?c.2986-7C>GUnknown
PCLOENSG00000186472ENST00000423517p.K2442fs*2c.7325delADeletion - Frameshift
UAP1ENSG00000117143ENST00000271469p.E189fs*3c.558delADeletion - Frameshift
CTCFLENSG00000124092ENST00000423479p.S565Sc.1695G>ASubstitution - coding silent
KIAA0754ENSG00000255103ENST00000530275p.A999Tc.2995G>ASubstitution - Missense
KLHL41ENSG00000239474ENST00000284669p.A313Sc.937G>TSubstitution - Missense
ENST00000298953_v70p.A446Tc.1336G>ASubstitution - Missense
FAM84BENSG00000168672ENST00000304916p.E46Dc.138G>TSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.T316Nc.947C>ASubstitution - Missense
BLOC1S4ENSG00000186222ENST00000320776p.E139Kc.415G>ASubstitution - Missense
SDK1ENSG00000146555ENST00000404826p.N1782Dc.5344A>GSubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
GBGT1ENSG00000148288ENST00000372040p.C42fs*7c.123delCDeletion - Frameshift
NLGN1ENSG00000169760ENST00000401917p.I411Mc.1233A>GSubstitution - Missense
BTLAENSG00000186265ENST00000334529p.T10Ic.29C>TSubstitution - Missense
NSUN5ENSG00000130305ENST00000252594p.Q352Qc.1056G>ASubstitution - coding silent
RAC1ENSG00000136238ENST00000348035p.N39Sc.116A>GSubstitution - Missense
ENST00000426736p.A2Tc.4G>ASubstitution - Missense
ETAA1ENSG00000143971ENST00000272342p.E226fs*4c.675_676delAGDeletion - Frameshift
RELNENSG00000189056ENST00000343529p.G3087Gc.9261C>TSubstitution - coding silent
CARD11ENSG00000198286ENST00000396946p.T367Ac.1099A>GSubstitution - Missense
GPR64ENSG00000173698ENST00000357991p.P771Lc.2312C>TSubstitution - Missense
PLXNA3ENSG00000130827ENST00000369682p.K1080Ec.3238A>GSubstitution - Missense
C2orf78ENSG00000187833ENST00000409561p.Q635*c.1903C>TSubstitution - Nonsense
LLGL2ENSG00000073350ENST00000392550p.L733Lc.2197C>TSubstitution - coding silent
FUT10ENSG00000172728ENST00000327671p.G307Rc.919G>ASubstitution - Missense
SLC5A2ENSG00000140675ENST00000330498p.R137Hc.410G>ASubstitution - Missense
ENST00000357934p.T30Mc.89C>TSubstitution - Missense
HOOK2ENSG00000095066ENST00000397668p.A88Vc.263C>TSubstitution - Missense
ENST00000334187_v71p.L116fs*14c.340_341insTInsertion - Frameshift
FAM3DENSG00000198643ENST00000358781p.A140fs*18c.410_411insGInsertion - Frameshift
FCGRTENSG00000104870ENST00000221466p.V304Dc.911T>ASubstitution - Missense
CCNE1ENSG00000105173ENST00000262643p.T91Mc.272C>TSubstitution - Missense
SMARCAL1ENSG00000138375ENST00000357276p.A118Tc.352G>ASubstitution - Missense
RSAD1ENSG00000136444ENST00000258955p.T171Mc.512C>TSubstitution - Missense
C5orf42ENSG00000197603ENST00000425232p.L958fs*6c.2873delTDeletion - Frameshift
RBMXL1ENSG00000213516ENST00000321792p.R372Rc.1116A>GSubstitution - coding silent
SYNMENSG00000182253ENST00000336292p.H841fs*47c.2515delGDeletion - Frameshift
NM_007365.1p.G421Dc.1262G>ASubstitution - Missense
ADAMTS4ENSG00000158859ENST00000367996p.H592Hc.1776C>TSubstitution - coding silent
CCND1ENSG00000110092ENST00000227507p.L283_D294del12c.841_876del36Deletion - In frame
NALCNENSG00000102452ENST00000251127p.S1638Nc.4913G>ASubstitution - Missense
RYR2ENSG00000198626ENST00000366574p.P1857Lc.5570C>TSubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.G1064Rc.3190G>ASubstitution - Missense
OR4D11ENSG00000176200ENST00000313253p.L31fs*6c.86delTDeletion - Frameshift
ROBO3ENSG00000154134ENST00000397801p.A830Tc.2488G>ASubstitution - Missense
APLP2ENSG00000084234ENST00000263574p.?c.106-9C>GUnknown
R3HCC1LENSG00000166024ENST00000298999p.T530Kc.1589C>ASubstitution - Missense
CACNA2D4ENSG00000151062ENST00000382722p.L977Lc.2929C>TSubstitution - coding silent
CAPN9ENSG00000135773ENST00000271971p.R360Hc.1079G>ASubstitution - Missense
HOXC6ENSG00000197757ENST00000243108p.A15Tc.43G>ASubstitution - Missense
PKMENSG00000067225ENST00000335181p.?c.1489+5G>AUnknown
SMARCA4ENSG00000127616ENST00000429416p.R885Hc.2654G>ASubstitution - Missense
EPHA6ENSG00000080224ENST00000389672p.R182Hc.545G>ASubstitution - Missense
ZP1ENSG00000149506ENST00000278853p.H218Qc.654C>ASubstitution - Missense
C7orf63ENSG00000105792ENST00000389297p.K624fs*5c.1865delADeletion - Frameshift
PCSK1ENSG00000175426ENST00000311106p.S460Sc.1380C>TSubstitution - coding silent
LHFPL5ENSG00000197753ENST00000373853p.S22Sc.66G>ASubstitution - coding silent
PAPLNENSG00000100767ENST00000340738p.R1033Qc.3098G>ASubstitution - Missense
JMJD1CENSG00000171988ENST00000402544p.A814Vc.2441C>TSubstitution - Missense
TRPM6ENSG00000119121ENST00000449912p.E1145Ec.3435G>ASubstitution - coding silent
ENST00000434864p.C63Cc.189C>TSubstitution - coding silent
SLC8A1ENSG00000183023ENST00000542024p.E658Gc.1973A>GSubstitution - Missense
IL1RL1ENSG00000115602ENST00000393393p.T86Ac.256A>GSubstitution - Missense
NM_007233.1p.S5Sc.15C>TSubstitution - coding silent
RAPGEF1ENSG00000107263ENST00000372195p.D715Gc.2144A>GSubstitution - Missense
MPRIPENSG00000133030ENST00000395811p.S824Sc.2472G>ASubstitution - coding silent
ENST00000398800_v70p.D489Nc.1465G>ASubstitution - Missense
PRMT1ENSG00000126457ENST00000454376p.T197Tc.591G>ASubstitution - coding silent
MYBPC3ENSG00000134571ENST00000545968p.A517Vc.1550C>TSubstitution - Missense
SIDT2ENSG00000149577ENST00000278951p.P261Sc.781C>TSubstitution - Missense
CRYGSENSG00000213139ENST00000307944p.A56fs*14c.165_166insTInsertion - Frameshift
ST6GALNAC4ENSG00000136840ENST00000335791p.L161Lc.483C>TSubstitution - coding silent
HLA-DOAENSG00000204252ENST00000229829p.V158Vc.474G>ASubstitution - coding silent
GPR115ENSG00000153294ENST00000327753p.?c.552+9T>AUnknown
NSD1ENSG00000165671ENST00000439151p.G983fs*57c.2944delGDeletion - Frameshift
RBCK1ENSG00000125826ENST00000356286p.C506Cc.1518T>CSubstitution - coding silent
UBE2CENSG00000175063ENST00000356455p.?c.217-2A>GUnknown
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
COL14A1ENSG00000187955ENST00000297848p.L615Lc.1845G>CSubstitution - coding silent
SMAP1ENSG00000112305ENST00000316999p.T410Tc.1230C>GSubstitution - coding silent
MKS1ENSG00000011143ENST00000337050p.H271fs*29c.811delCDeletion - Frameshift
NRXN1ENSG00000179915ENST00000402717p.?c.778-10G>AUnknown
ADNP2ENSG00000101544ENST00000262198p.I931Ic.2793C>TSubstitution - coding silent
KLHL26ENSG00000167487ENST00000300976p.S306Sc.918G>ASubstitution - coding silent
KLHL9ENSG00000198642ENST00000359039p.G505Gc.1515A>GSubstitution - coding silent
TUBGCP6ENSG00000128159ENST00000248846p.V428Mc.1282G>ASubstitution - Missense
PHKA2ENSG00000044446ENST00000379942p.A1026Ac.3078C>TSubstitution - coding silent
FLNAENSG00000196924ENST00000369850p.G1013Cc.3037G>TSubstitution - Missense
AGPAT4ENSG00000026652ENST00000366908p.L6Lc.18G>ASubstitution - coding silent
CXorf67ENSG00000187690ENST00000342995p.A240Tc.718G>ASubstitution - Missense
ZNF606ENSG00000166704ENST00000341164p.A778Tc.2332G>ASubstitution - Missense
PPAPDC1BENSG00000147535ENST00000424479p.E40*c.118G>TSubstitution - Nonsense
NM_003319p.G13577Dc.40730G>ASubstitution - Missense
KIDINS220ENSG00000134313ENST00000256707p.L530Pc.1589T>CSubstitution - Missense
ADNPENSG00000101126ENST00000349014p.N354Tc.1061A>CSubstitution - Missense
MITFENSG00000187098ENST00000352241p.P159Pc.477A>GSubstitution - coding silent
ENST00000281753p.S298Sc.894T>CSubstitution - coding silent
RPEENSG00000197713ENST00000359429p.?c.478-6A>GUnknown
PTGER3ENSG00000050628ENST00000356595p.L90Lc.268C>TSubstitution - coding silent
PLEKHH1ENSG00000054690ENST00000329153p.Y183fs*49c.546_547insCInsertion - Frameshift
ADCK1ENSG00000063761ENST00000238561p.K58Nc.174G>CSubstitution - Missense
KLHL17ENSG00000187961ENST00000338591p.G395Sc.1183G>ASubstitution - Missense
SYTL2ENSG00000137501ENST00000354566p.R1095Qc.3284G>ASubstitution - Missense
PLEKHA6ENSG00000143850ENST00000272203p.Q310Rc.929A>GSubstitution - Missense
CCDC17ENSG00000159588ENST00000343901p.R472Qc.1415G>ASubstitution - Missense
KCNC2ENSG00000166006ENST00000298972p.W430*c.1290G>ASubstitution - Nonsense
KCNK4ENSG00000182450ENST00000422670p.R375fs*>19c.1117delCDeletion - Frameshift
NM_139155.1p.K506Ec.1516A>GSubstitution - Missense
SZT2ENSG00000198198ENST00000562955p.V2875Vc.8625A>GSubstitution - coding silent
SEC61A2ENSG00000065665ENST00000304267p.V362Ic.1084G>ASubstitution - Missense
ATP8A2ENSG00000132932ENST00000381655p.L363Rc.1088T>GSubstitution - Missense
PDS5BENSG00000083642ENST00000315596p.R724fs*16c.2170_2171insCInsertion - Frameshift
TTC40ENSG00000171811ENST00000368586p.R1182Cc.3544C>TSubstitution - Missense
CHD8ENSG00000100888ENST00000430710p.R2073fs*3c.6217delCDeletion - Frameshift
FGF19ENSG00000162344ENST00000294312p.?c.233-2A>GUnknown
ADCY4ENSG00000129467ENST00000310677p.R982Hc.2945G>ASubstitution - Missense
MORN1ENSG00000116151ENST00000378531p.A259Ac.777G>ASubstitution - coding silent
SLC2A3ENSG00000059804ENST00000075120p.A169Ac.507C>TSubstitution - coding silent
ANKRD30AENSG00000148513ENST00000361713p.I1134Tc.3401T>CSubstitution - Missense
ENST00000357329p.I1137Vc.3409A>GSubstitution - Missense
UAP1ENSG00000117143ENST00000367926p.E189fs*3c.558delADeletion - Frameshift
ESRP1ENSG00000104413ENST00000433389p.N512fs*2c.1528delADeletion - Frameshift
JAK1ENSG00000162434ENST00000342505p.K860fs*16c.2580delADeletion - Frameshift
ZBTB48ENSG00000204859ENST00000377674p.R485Hc.1454G>ASubstitution - Missense
OR10G8ENSG00000234560ENST00000431524p.T75Mc.224C>TSubstitution - Missense
PHF2ENSG00000197724ENST00000359246p.K492fs*6c.1468delADeletion - Frameshift
DZANK1ENSG00000089091ENST00000357236p.I400Lc.1198A>CSubstitution - Missense


COSMIC

1 mutations reported
0 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
NM_006218.1p.E542Kc.?Substitution - Missense19372580