Cell Line Synopsis
Cell Line Overview
Mutations
Copy Number Variation
Gene Expression
RNAi
Compound Sensitivity Profile
Similar Cell Lines

CAL-78 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

695 mutations reported
273 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
RYR2ENSG00000198626ENST00000366574p.S1767Rc.5301T>ASubstitution - Missense
PAOXENSG00000148832ENST00000278060p.E162Vc.485A>TSubstitution - Missense
TTC40ENSG00000171811ENST00000368582p.R1511Wc.4531C>TSubstitution - Missense
STK32CENSG00000165752ENST00000368625p.?c.302-7C>TUnknown
STK32CENSG00000165752ENST00000298630p.?c.263-7C>TUnknown
PSME1ENSG00000092010ENST00000206451p.G169Vc.506G>TSubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.E1502Dc.4506G>TSubstitution - Missense
DPPA3ENSG00000187569ENST00000345088p.?c.78_83-6del3530Unknown
DPPA3ENSG00000187569ENST00000345088p.?c.327_328-2del770Unknown
C12orf56ENSG00000185306ENST00000333722p.E194Dc.582A>TSubstitution - Missense
NM_017449p.D1028fs*13c.3081_3082delAGDeletion - Frameshift
SU_OBSCN.1p.R2675Lc.8024G>TSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.R2621Lc.7862G>TSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.R2867Cc.8599C>TSubstitution - Missense
LRTM2ENSG00000166159ENST00000299194p.L142Ic.424C>ASubstitution - Missense
PXMP2ENSG00000176894ENST00000317479p.F92Lc.274T>CSubstitution - Missense
FHAD1ENSG00000142621ENST00000375999p.H1265Hc.3795C>TSubstitution - coding silent
C11orf40ENSG00000171987ENST00000307616p.R97Rc.289A>CSubstitution - coding silent
DNAH14ENSG00000185842ENST00000445597p.?c.1164+2T>CUnknown
CELA3AENSG00000142789ENST00000290122p.N89Sc.266A>GSubstitution - Missense
EPRSENSG00000136628ENST00000366923p.S162Lc.485C>TSubstitution - Missense
BPNT1ENSG00000162813ENST00000322067p.Q84Ec.250C>GSubstitution - Missense
KCNMA1ENSG00000156113ENST00000406533p.A1053Ac.3159G>ASubstitution - coding silent
DLG5ENSG00000151208ENST00000372391p.R1648Rc.4944C>TSubstitution - coding silent
NDST2ENSG00000166507ENST00000309979p.S285Ac.853T>GSubstitution - Missense
ALDH18A1ENSG00000059573ENST00000371224p.?c.809-3T>GUnknown
MUC5BENSG00000117983ENST00000529681p.S667Pc.1999T>CSubstitution - Missense
ITGB1ENSG00000150093ENST00000396033p.R676Lc.2027G>TSubstitution - Missense
ITGB1ENSG00000150093ENST00000423113p.R676Lc.2027G>TSubstitution - Missense
ENST00000326184p.Q635fs*32c.1903delCDeletion - Frameshift
GPR84ENSG00000139572ENST00000267015p.V28Mc.82G>ASubstitution - Missense
SH2D7ENSG00000183476ENST00000328828p.Q340Qc.1020G>ASubstitution - coding silent
MPIENSG00000178802ENST00000352410p.V217Vc.651G>ASubstitution - coding silent
DIS3ENSG00000083520ENST00000377767p.R467Qc.1400G>ASubstitution - Missense
NEK5ENSG00000197168ENST00000355568p.P223Ac.667C>GSubstitution - Missense
SU_NEK5p.P280Ac.838C>GSubstitution - Missense
SLAIN1ENSG00000139737ENST00000488699p.T245Ic.734C>TSubstitution - Missense
HECTD4ENSG00000173064ENST00000377560p.P3716Pc.11148G>ASubstitution - coding silent
ENST00000377560_v62p.P3966Pc.11898G>ASubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.R351Rc.1053C>TSubstitution - coding silent
COL4A5ENSG00000188153ENST00000361603p.E1165Kc.3493G>ASubstitution - Missense
BCAP29ENSG00000075790ENST00000445771p.F151Ic.451T>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.R1311*c.3931C>TSubstitution - Nonsense
RPS6KC1ENSG00000136643ENST00000366960p.E256Dc.768A>CSubstitution - Missense
CR1ENSG00000203710ENST00000367049p.F1223Fc.3669C>TSubstitution - coding silent
VGLL1ENSG00000102243ENST00000370634p.R219Hc.656G>ASubstitution - Missense
CASQ2ENSG00000118729ENST00000261448p.F189Fc.567C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369356p.R1355*c.4063C>TSubstitution - Nonsense
SAMD7ENSG00000187033ENST00000335556p.V46Ic.136G>ASubstitution - Missense
PIK3CGENSG00000105851ENST00000440650p.D946Nc.2836G>ASubstitution - Missense
FAM151AENSG00000162391ENST00000302250p.V97Ac.290T>CSubstitution - Missense
DHX32ENSG00000089876ENST00000284690p.R261Cc.781C>TSubstitution - Missense
KIR3DX1ENSG00000104970ENST00000335056p.H88Hc.264C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369354p.R1355*c.4063C>TSubstitution - Nonsense
ENST00000349637p.R351Rc.1053C>TSubstitution - coding silent
ENST00000344371p.Q147Pc.440A>CSubstitution - Missense
ADAMTS17ENSG00000140470ENST00000268070p.R688Gc.2062A>GSubstitution - Missense
ADARENSG00000160710ENST00000292205p.S3Sc.9A>CSubstitution - coding silent
RORCENSG00000143365ENST00000392697p.S239Pc.715T>CSubstitution - Missense
ACOT11ENSG00000162390ENST00000343744p.K396Tc.1187A>CSubstitution - Missense
EPS15ENSG00000085832ENST00000371733p.I174Tc.521T>CSubstitution - Missense
NINENSG00000100503ENST00000382041p.T1558Mc.4673C>TSubstitution - Missense
NINENSG00000100503ENST00000245441p.T1558Mc.4673C>TSubstitution - Missense
FSCBENSG00000189139ENST00000340446p.K411fs*1c.1229_1230insAInsertion - Frameshift
ERMAPENSG00000164010ENST00000372514p.S348Sc.1044C>ASubstitution - coding silent
NOTCH2ENSG00000134250ENST00000256646p.A439Tc.1315G>ASubstitution - Missense
FAM46CENSG00000183508ENST00000369448p.T43Nc.128C>ASubstitution - Missense
DENND2CENSG00000175984ENST00000393276p.Q27Rc.80A>GSubstitution - Missense
RORCENSG00000143365ENST00000318247p.S185Pc.553T>CSubstitution - Missense
A1CFENSG00000148584ENST00000374001p.A172Tc.514G>ASubstitution - Missense
TPSD1ENSG00000095917ENST00000211076p.G229Vc.686G>TSubstitution - Missense
STOX1ENSG00000165730ENST00000399169p.I402Ic.1206C>TSubstitution - coding silent
NM_013266.1p.?c.1128+7G>TUnknown
SLC22A8ENSG00000149452ENST00000336232p.R236Hc.707G>ASubstitution - Missense
ENST00000398860p.T782Tc.2346G>ASubstitution - coding silent
ENST00000325093p.F109Ic.325T>ASubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.R2768Qc.8303G>ASubstitution - Missense
MALRD1ENSG00000204740ENST00000454679p.L1383fs*2c.4145_4146insAInsertion - Frameshift
IGFALSENSG00000099769ENST00000215539p.A117Ac.351G>ASubstitution - coding silent
ZFYVE26ENSG00000072121ENST00000347230p.A88_E90delAREc.262_270delGCCCGGGAADeletion - In frame
YLPM1ENSG00000119596ENST00000238571p.A388Ac.1164A>CSubstitution - coding silent
TMEM240ENSG00000205090ENST00000378733p.A152Ac.456C>TSubstitution - coding silent
MALRD1ENSG00000204740ENST00000454679p.I105Fc.313A>TSubstitution - Missense
CD163ENSG00000177575ENST00000396620p.G534*c.1600G>TSubstitution - Nonsense
MMP13ENSG00000137745ENST00000260302p.L265Lc.795C>GSubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.H396Dc.1186C>GSubstitution - Missense
YAP1ENSG00000137693ENST00000282441p.?c.985-3T>AUnknown
HINFPENSG00000172273ENST00000350777p.Y481Yc.1443T>CSubstitution - coding silent
ATMENSG00000149311ENST00000278616p.R1618Qc.4853G>ASubstitution - Missense
ATMENSG00000149311ENST00000278616p.R1618Qc.4853G>ASubstitution - Missense
SPTY2D1ENSG00000179119ENST00000336349p.R195*c.583C>TSubstitution - Nonsense
ABCC8ENSG00000006071ENST00000389817p.V1259Mc.3775G>ASubstitution - Missense
ABCC8ENSG00000006071ENST00000389817p.Q967*c.2899C>TSubstitution - Nonsense
ENST00000299136p.N12Nc.36C>TSubstitution - coding silent
CPSF6ENSG00000111605ENST00000435070p.E492Kc.1474G>ASubstitution - Missense
RAB3IPENSG00000127328ENST00000550536p.P36Lc.107C>TSubstitution - Missense
ZNF648ENSG00000179930ENST00000339948p.H207fs*39c.619_620delCADeletion - Frameshift
FMO2ENSG00000094963ENST00000209929p.S334Cc.1001C>GSubstitution - Missense
SCYL3ENSG00000000457ENST00000367771p.T268Ac.802A>GSubstitution - Missense
CCDC19ENSG00000213085ENST00000368099p.I369Vc.1105A>GSubstitution - Missense
MRPS15ENSG00000116898ENST00000373116p.Y155fs*2c.464_467delATCTDeletion - Frameshift
SCAF11ENSG00000139218ENST00000369367p.T1458Ac.4372A>GSubstitution - Missense
PRICKLE1ENSG00000139174ENST00000345127p.Y561Hc.1681T>CSubstitution - Missense
KIF21AENSG00000139116ENST00000361961p.L332Lc.996A>GSubstitution - coding silent
KIF21AENSG00000139116ENST00000395670p.L332Lc.996A>GSubstitution - coding silent
NBEAENSG00000172915ENST00000310336p.E1588Ec.4764G>ASubstitution - coding silent
SERINC2ENSG00000168528ENST00000373709p.T407Tc.1221C>ASubstitution - coding silent
TDRD1ENSG00000095627ENST00000251864p.E242Ec.726A>GSubstitution - coding silent
NR1H4ENSG00000012504ENST00000548884p.R90Hc.269G>ASubstitution - Missense
AF282265.1p.Q320Hc.960G>CSubstitution - Missense
INCENPENSG00000149503ENST00000394818p.Q320Hc.960G>CSubstitution - Missense
SYT7ENSG00000011347ENST00000263846p.E207Kc.619G>ASubstitution - Missense
CD5ENSG00000110448ENST00000347785p.C132Sc.395G>CSubstitution - Missense
MS4A1ENSG00000156738ENST00000389939p.K110Ec.328A>GSubstitution - Missense
NUDT8ENSG00000167799ENST00000376693p.L102Lc.306G>ASubstitution - coding silent
TBX10ENSG00000167800ENST00000335385p.S217Tc.649T>ASubstitution - Missense
KDM2AENSG00000173120ENST00000529006p.H727Pc.2180A>CSubstitution - Missense
CHMLENSG00000203668ENST00000366553p.A488Ac.1464T>CSubstitution - coding silent
XM_371214.3p.D130Ac.389A>CSubstitution - Missense
PHKBENSG00000102893ENST00000566044p.L451Lc.1353T>CSubstitution - coding silent
KRTAP9-9ENSG00000198083ENST00000394008p.P118Pc.354G>CSubstitution - coding silent
ATP2A3ENSG00000074370ENST00000352011p.R637Rc.1911C>TSubstitution - coding silent
TIAM1ENSG00000156299ENST00000286827p.F1204Fc.3612C>TSubstitution - coding silent
ZBTB49ENSG00000168826ENST00000337872p.H39Nc.115C>ASubstitution - Missense
DNMT3LENSG00000142182ENST00000270172p.L383Vc.1147C>GSubstitution - Missense
NM_001002021.1p.T375Mc.1124C>TSubstitution - Missense
ZBTB21ENSG00000173276ENST00000398499p.A1036Vc.3107C>TSubstitution - Missense
UGT2A1ENSG00000173610ENST00000457664p.Y201Hc.601T>CSubstitution - Missense
CIRBPENSG00000099622ENST00000320936p.E129Kc.385G>ASubstitution - Missense
CIRBPENSG00000099622ENST00000444172p.E76Kc.226G>ASubstitution - Missense
C19orf24ENSG00000228300ENST00000409293p.E122Kc.364G>ASubstitution - Missense
LAPTM4BENSG00000104341ENST00000445593p.L250Ic.748C>ASubstitution - Missense
MMP16ENSG00000156103ENST00000286614p.Y270Yc.810C>TSubstitution - coding silent
ENST00000436173p.D2156Nc.6466G>ASubstitution - Missense
CBX4ENSG00000141582ENST00000269397p.Y169Cc.506A>GSubstitution - Missense
RLN2ENSG00000107014ENST00000381627p.A141Ac.423A>CSubstitution - coding silent
ZBTB5ENSG00000168795ENST00000307750p.R200Rc.600G>ASubstitution - coding silent
MYOM2ENSG00000036448ENST00000262113p.T77Tc.231G>ASubstitution - coding silent
IL17RDENSG00000144730ENST00000296318p.H238Hc.714C>TSubstitution - coding silent
EPHX2ENSG00000120915ENST00000521400p.R287Pc.860G>CSubstitution - Missense
KCNH6ENSG00000173826ENST00000583023p.R388Qc.1163G>ASubstitution - Missense
ZNF217ENSG00000171940ENST00000371471p.K844Rc.2531A>GSubstitution - Missense
SCINENSG00000006747ENST00000297029p.D346Gc.1037A>GSubstitution - Missense
SCINENSG00000006747ENST00000297029p.D346Gc.1037A>GSubstitution - Missense
CCINENSG00000185972ENST00000335119p.I329Vc.985A>GSubstitution - Missense
STOML2ENSG00000165283ENST00000356493p.A20Ac.60T>GSubstitution - coding silent
RFX3ENSG00000080298ENST00000382004p.G7Gc.21G>ASubstitution - coding silent
ENST00000380086p.S358Lc.1073C>TSubstitution - Missense
THOP1ENSG00000172009ENST00000307741p.L193Lc.579C>ASubstitution - coding silent
ZNF91ENSG00000167232ENST00000300619p.S755*c.2264C>GSubstitution - Nonsense
DNAH9ENSG00000007174ENST00000262442p.I1579Fc.4735A>TSubstitution - Missense
NXF3ENSG00000147206ENST00000395065p.K527Kc.1581A>GSubstitution - coding silent
TP53ENSG00000141510ENST00000455263p.E286_E287delEEc.856_861delGAAGAGDeletion - In frame
PPFIA3ENSG00000177380ENST00000334186p.?c.1161+6G>TUnknown
SLC6A16ENSG00000063127ENST00000335875p.R406Rc.1218C>ASubstitution - coding silent
NM_024810.1p.I437Vc.1309A>GSubstitution - Missense
PDE7AENSG00000205268ENST00000401827p.?c.283+9T>CUnknown
MYO1FENSG00000142347ENST00000338257p.H490Rc.1469A>GSubstitution - Missense
ST18ENSG00000147488ENST00000276480p.?c.2364-10C>TUnknown
ST18ENSG00000147488ENST00000276480p.A548Ac.1644A>GSubstitution - coding silent
SNTG1ENSG00000147481ENST00000518864p.?c.363+3G>TUnknown
EGFLAMENSG00000164318ENST00000322350p.S177Sc.531T>CSubstitution - coding silent
IL7RENSG00000168685ENST00000303115p.P277Pc.831C>TSubstitution - coding silent
MSLNENSG00000102854ENST00000382862p.D49Dc.147C>TSubstitution - coding silent
ENST00000446427p.D49Dc.147C>TSubstitution - coding silent
SPATA20ENSG00000006282ENST00000006658p.T54Mc.161C>TSubstitution - Missense
GBP6ENSG00000183347ENST00000370456p.F176Ic.526T>ASubstitution - Missense
ENST00000267731_v68p.?c.1610-8C>AUnknown
CCDC88CENSG00000015133ENST00000389857p.S486Fc.1457C>TSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.S486Fc.1457C>TSubstitution - Missense
DPYDENSG00000188641ENST00000370192p.R29Hc.86G>ASubstitution - Missense
RPS6KA1ENSG00000117676ENST00000374168p.L329Ic.985C>ASubstitution - Missense
NOC2LENSG00000188976ENST00000327044p.N489Nc.1467C>TSubstitution - coding silent
CAMTA1ENSG00000171735ENST00000303635p.A854Ac.2562C>TSubstitution - coding silent
CACNA1SENSG00000081248ENST00000362061p.Y227Yc.681C>TSubstitution - coding silent
WDR72ENSG00000166415ENST00000396328p.S651Sc.1953T>CSubstitution - coding silent
HDCENSG00000140287ENST00000267845p.Y276Yc.828T>CSubstitution - coding silent
CDK18ENSG00000117266ENST00000429964p.?c.130+3G>CUnknown
KIAA1731ENSG00000166004ENST00000325212p.A1727Ac.5181C>TSubstitution - coding silent
KIAA1731ENSG00000166004ENST00000325212p.A1727Ac.5181C>TSubstitution - coding silent
PIDDENSG00000177595ENST00000347755p.P729Pc.2187T>CSubstitution - coding silent
DHX37ENSG00000150990ENST00000308736p.Q246*c.736C>TSubstitution - Nonsense
DNAH10ENSG00000197653ENST00000409039p.?c.9644-8C>TUnknown
SNCAIPENSG00000064692ENST00000261368p.V156Vc.468G>ASubstitution - coding silent
SNCAIPENSG00000064692ENST00000379533p.V203Vc.609G>ASubstitution - coding silent
SNCAIPENSG00000064692ENST00000503116p.V203Vc.609G>ASubstitution - coding silent
SLC6A18ENSG00000164363ENST00000324642p.?c.733-2A>GUnknown
NLGN4YENSG00000165246ENST00000355905p.I771Ic.2313C>TSubstitution - coding silent
GPR98ENSG00000164199ENST00000405460p.Y5745Cc.17234A>GSubstitution - Missense
GRK7ENSG00000114124ENST00000264952p.N282Nc.846C>TSubstitution - coding silent
BAXENSG00000087088ENST00000345358p.D84Dc.252C>TSubstitution - coding silent
RSPH6AENSG00000104941ENST00000221538p.P136Lc.407C>TSubstitution - Missense
SPIN4ENSG00000186767ENST00000335144p.G86Vc.257G>TSubstitution - Missense
SPIN4ENSG00000186767ENST00000335144p.G86Rc.256G>ASubstitution - Missense
EHMT1ENSG00000181090ENST00000460843p.?c.3180+10G>TUnknown
ENST00000298728p.?c.3087+10G>TUnknown
KCNN1ENSG00000105642ENST00000222249p.K119Mc.356A>TSubstitution - Missense
DMWDENSG00000185800ENST00000270223p.P569Pc.1707C>TSubstitution - coding silent
DMWDENSG00000185800ENST00000270223p.P569Sc.1705C>TSubstitution - Missense
ANXA4ENSG00000196975ENST00000394295p.L172Lc.516C>TSubstitution - coding silent
SBF1ENSG00000100241ENST00000380817p.L1245Lc.3735G>ASubstitution - coding silent
CCDC51ENSG00000164051ENST00000395694p.G64Ac.191G>CSubstitution - Missense
SLC4A3ENSG00000114923ENST00000273063p.I954Fc.2860A>TSubstitution - Missense
SMEK2ENSG00000138041ENST00000345102p.R846Lc.2537G>TSubstitution - Missense
SMEK2ENSG00000138041ENST00000272313p.R761Lc.2282G>TSubstitution - Missense
CCDC85AENSG00000055813ENST00000407595p.S536Pc.1606T>CSubstitution - Missense
TSEN2ENSG00000154743ENST00000284995p.L245Fc.733C>TSubstitution - Missense
PDHA1ENSG00000131828ENST00000417819p.P25Rc.74C>GSubstitution - Missense
VIL1ENSG00000127831ENST00000248444p.N102Nc.306C>TSubstitution - coding silent
LATS1ENSG00000131023ENST00000543571p.A898Dc.2693C>ASubstitution - Missense
ADGBENSG00000118492ENST00000397944p.E1611Dc.4833A>CSubstitution - Missense
ADGBENSG00000118492ENST00000367493p.E556Dc.1668A>CSubstitution - Missense
PLEKHA8ENSG00000106086ENST00000258679p.I308Nc.923T>ASubstitution - Missense
MPP6ENSG00000105926ENST00000396475p.F286Fc.858T>CSubstitution - coding silent
DNAH11ENSG00000105877ENST00000328843p.R2051Qc.6152G>ASubstitution - Missense
MAP3K4ENSG00000085511ENST00000392142p.G817Gc.2451A>GSubstitution - coding silent
TIPARPENSG00000163659ENST00000295924p.Q460Rc.1379A>GSubstitution - Missense
ENST00000237309p.L167Fc.501G>CSubstitution - Missense
CTNND2ENSG00000169862ENST00000304623p.L828Lc.2484T>CSubstitution - coding silent
METTL14ENSG00000145388ENST00000388822p.P454Pc.1362A>GSubstitution - coding silent
PLCH1ENSG00000114805ENST00000340059p.V233Vc.699G>ASubstitution - coding silent
CCDC138ENSG00000163006ENST00000295124p.T522Ic.1565C>TSubstitution - Missense
TGFBRAP1ENSG00000135966ENST00000258449p.K601Kc.1803G>ASubstitution - coding silent
SCN5AENSG00000183873ENST00000413689p.P234Qc.701C>ASubstitution - Missense
ZNF587BENSG00000269343ENST00000442832p.S280fs*22c.838_839insGInsertion - Frameshift
ZNF606ENSG00000166704ENST00000341164p.A772Vc.2315C>TSubstitution - Missense
ZNF304ENSG00000131845ENST00000282286p.A455Vc.1364C>TSubstitution - Missense
ZSCAN5DENSG00000267908ENST00000600684p.C469Sc.1405T>ASubstitution - Missense
GPRIN3ENSG00000185477ENST00000333209p.H712Dc.2134C>GSubstitution - Missense
KREMEN1ENSG00000183762ENST00000327813p.Y68Fc.203A>TSubstitution - Missense
ZNF432ENSG00000256087ENST00000221315p.R645*c.1933C>TSubstitution - Nonsense
ENSG00000182329ENST00000295844p.G279*c.835G>TSubstitution - Nonsense
VPS9D1ENSG00000075399ENST00000389386p.G489Gc.1467C>TSubstitution - coding silent
DNASE1ENSG00000213918ENST00000246949p.A136Ac.408C>TSubstitution - coding silent
TTLL9ENSG00000131044ENST00000375938p.D69Dc.207C>TSubstitution - coding silent
PTPRHENSG00000080031ENST00000376350p.W512*c.1536G>ASubstitution - Nonsense
ENST00000375170p.L33Lc.99G>CSubstitution - coding silent
DENND2AENSG00000146966ENST00000275884p.K717Nc.2151G>TSubstitution - Missense
NPTX2ENSG00000106236ENST00000265634p.S217Rc.651C>GSubstitution - Missense
ENST00000360191p.P371Rc.1112C>GSubstitution - Missense
NEDD4LENSG00000049759ENST00000382850p.V108Lc.322G>TSubstitution - Missense
CCDC68ENSG00000166510ENST00000337363p.K39fs*15c.116_117insTInsertion - Frameshift
NM_147171.1p.L263Rc.788T>GSubstitution - Missense
AKAP9ENSG00000127914ENST00000356239p.T3661Tc.10983T>CSubstitution - coding silent
NM_147171.1p.T3665Tc.10995T>CSubstitution - coding silent
PHKBENSG00000102893ENST00000323584p.L458Lc.1374T>CSubstitution - coding silent
PHKBENSG00000102893ENST00000323584p.L458Lc.1374T>CSubstitution - coding silent
CDH23ENSG00000107736ENST00000299366p.T780Tc.2340G>ASubstitution - coding silent
ZFAND4ENSG00000172671ENST00000335258p.N73Dc.217A>GSubstitution - Missense
LRRC56ENSG00000161328ENST00000270115p.G517Sc.1549G>ASubstitution - Missense
NINENSG00000100503ENST00000453196p.T1558Mc.4673C>TSubstitution - Missense
TTLL9ENSG00000131044ENST00000375922p.D19Dc.57C>TSubstitution - coding silent
EIF2B5ENSG00000145191ENST00000273783p.W317Cc.951G>TSubstitution - Missense
ABCC5ENSG00000114770ENST00000334444p.L273Mc.817C>ASubstitution - Missense
HK3ENSG00000160883ENST00000292432p.G814Gc.2442G>TSubstitution - coding silent
UBTD2ENSG00000168246ENST00000393792p.G190Ac.569G>CSubstitution - Missense
ZNF572ENSG00000180938ENST00000319286p.G250Rc.748G>ASubstitution - Missense
PTGS1ENSG00000095303ENST00000362012p.?c.95-9C>AUnknown
BLOC1S4ENSG00000186222ENST00000320776p.R148Cc.442C>TSubstitution - Missense
PRPS1L1ENSG00000229937ENST00000506618p.P170Rc.509C>GSubstitution - Missense
PRPS1L1ENSG00000229937ENST00000506618p.P170Rc.509C>GSubstitution - Missense
SGSM1ENSG00000167037ENST00000400358p.P349Pc.1047G>ASubstitution - coding silent
KIAA1671ENSG00000197077ENST00000358431p.L146Fc.436C>TSubstitution - Missense
GGT5ENSG00000099998ENST00000327365p.G438Dc.1313G>ASubstitution - Missense
SERPIND1ENSG00000099937ENST00000215727p.D149Nc.445G>ASubstitution - Missense
NEBENSG00000183091ENST00000427231p.P2116Pc.6348T>CSubstitution - coding silent
NEBENSG00000183091ENST00000397345p.P2116Pc.6348T>CSubstitution - coding silent
NWD1ENSG00000188039ENST00000524140p.A292Gc.875C>GSubstitution - Missense
WIZENSG00000011451ENST00000263381p.R92Rc.276G>ASubstitution - coding silent
WIZENSG00000011451ENST00000389282p.R781Rc.2343G>ASubstitution - coding silent
NOTCH3ENSG00000074181ENST00000263388p.G1105Gc.3315C>TSubstitution - coding silent
AZGP1ENSG00000160862ENST00000292401p.A18Sc.52G>TSubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.N3567Nc.10701C>TSubstitution - coding silent
ENST00000319379p.N3512Nc.10536C>TSubstitution - coding silent
ENST00000319379p.G1707Gc.5121T>CSubstitution - coding silent
SNTB2ENSG00000168807ENST00000336278p.L358Vc.1072C>GSubstitution - Missense
PHLPP2ENSG00000040199ENST00000356272p.F314Lc.940T>CSubstitution - Missense
ENST00000316490_v65p.K3510Rc.10529A>GSubstitution - Missense
LAMB4ENSG00000091128ENST00000205386p.E1533*c.4597G>TSubstitution - Nonsense
DGKBENSG00000136267ENST00000403951p.?c.1522+5T>CUnknown
ENST00000274705p.N546Nc.1638C>TSubstitution - coding silent
ENST00000274705p.R580Rc.1740C>ASubstitution - coding silent
ENST00000274705p.S645Sc.1935G>TSubstitution - coding silent
RNF145ENSG00000145860ENST00000274542p.S61Ac.181T>GSubstitution - Missense
NKAPLENSG00000189134ENST00000343684p.P141Sc.421C>TSubstitution - Missense
TENM2ENSG00000145934ENST00000519204p.R1594Cc.4780C>TSubstitution - Missense
ATXN7L1ENSG00000146776ENST00000388807p.T380Nc.1139C>ASubstitution - Missense
CCDC97ENSG00000142039ENST00000269967p.E269Gc.806A>GSubstitution - Missense
CYP2A7ENSG00000198077ENST00000301146p.A131Sc.391G>TSubstitution - Missense
MYL7ENSG00000106631ENST00000223364p.D171Dc.513C>TSubstitution - coding silent
MAGEA3ENSG00000221867ENST00000370278p.A210Gc.629C>GSubstitution - Missense
GPR50ENSG00000102195ENST00000218316p.D559Gc.1676A>GSubstitution - Missense
GNA14ENSG00000156049ENST00000341700p.R110Rc.328A>CSubstitution - coding silent
ABLIM3ENSG00000173210ENST00000309868p.?c.152-10G>TUnknown
PCDH1ENSG00000156453ENST00000287008p.V497Vc.1491G>ASubstitution - coding silent
SARDHENSG00000123453ENST00000371868p.L340Lc.1020G>ASubstitution - coding silent
AGTPBP1ENSG00000135049ENST00000376083p.L93Mc.277C>ASubstitution - Missense
UTP18ENSG00000011260ENST00000225298p.R532Ic.1595G>TSubstitution - Missense
SPAG9ENSG00000008294ENST00000262013p.S347Fc.1040C>TSubstitution - Missense
DSTENSG00000151914ENST00000244364p.Q2161Rc.6482A>GSubstitution - Missense
DSTENSG00000151914ENST00000370769p.Q4575Rc.13724A>GSubstitution - Missense
ATAD2ENSG00000156802ENST00000287394p.R198Qc.593G>ASubstitution - Missense
SNTB1ENSG00000172164ENST00000395601p.M248Ic.744G>TSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.S858Sc.2574G>ASubstitution - coding silent
CDH7ENSG00000081138ENST00000323011p.?c.1612+1G>CUnknown
CDH7ENSG00000081138ENST00000323011p.?c.1612+1G>CUnknown
CACNA1IENSG00000100346ENST00000404898p.T1170Tc.3510C>TSubstitution - coding silent
PDGFBENSG00000100311ENST00000331163p.E237Vc.710A>TSubstitution - Missense
TMPRSS6ENSG00000187045ENST00000346753p.G760Cc.2278G>TSubstitution - Missense
LAMA4ENSG00000112769ENST00000389463p.?c.3537-7T>CUnknown
RREB1ENSG00000124782ENST00000379933p.A838Ac.2514C>TSubstitution - coding silent
CNSTENSG00000162852ENST00000366513p.?c.1796_1836+19del60Unknown
COL17A1ENSG00000065618ENST00000353479p.S70Sc.210C>TSubstitution - coding silent
UPF2ENSG00000151461ENST00000356352p.V1052Vc.3156A>GSubstitution - coding silent
ENST00000280576p.?c.5420-8C>TUnknown
FUBP3ENSG00000107164ENST00000319725p.?c.976-8C>AUnknown
ZNF318ENSG00000171467ENST00000318149p.S568Rc.1704C>ASubstitution - Missense
ZFAND4ENSG00000172671ENST00000344646p.N73Dc.217A>GSubstitution - Missense
SDHAENSG00000073578ENST00000264932p.C438Yc.1313G>ASubstitution - Missense
SBF1ENSG00000100241ENST00000390679p.L1245Lc.3735G>ASubstitution - coding silent
TIAM1ENSG00000156299ENST00000286827p.F1204Fc.3612C>TSubstitution - coding silent
RANBP2ENSG00000153201ENST00000283195p.T860Kc.2579C>ASubstitution - Missense
NLRP5ENSG00000171487ENST00000390649p.R701Hc.2102G>ASubstitution - Missense
NRG1ENSG00000157168ENST00000520407p.R271Wc.811C>TSubstitution - Missense
TBC1D24ENSG00000162065ENST00000567020p.S262Sc.786G>TSubstitution - coding silent
DENND1BENSG00000213047ENST00000235453p.L273Lc.819A>GSubstitution - coding silent
ANO5ENSG00000171714ENST00000324559p.R547*c.1639C>TSubstitution - Nonsense
A1CFENSG00000148584ENST00000373995p.A180Tc.538G>ASubstitution - Missense
PLAAENSG00000137055ENST00000397292p.S415Lc.1244C>TSubstitution - Missense
SLAIN1ENSG00000139737ENST00000267219p.T168Ic.503C>TSubstitution - Missense
NM_033667.1p.R676Lc.2027G>TSubstitution - Missense
CNTN1ENSG00000018236ENST00000551295p.R571Qc.1712G>ASubstitution - Missense
OR4K14ENSG00000169484ENST00000305045p.I226Vc.676A>GSubstitution - Missense
ENST00000253892p.P146Qc.437C>ASubstitution - Missense
FANCD2ENSG00000144554ENST00000287647p.S271Lc.812C>TSubstitution - Missense
KLRK1ENSG00000213809ENST00000240618p.?c.533+8T>CUnknown
COL15A1ENSG00000204291ENST00000375001p.P696Hc.2087C>ASubstitution - Missense
NT5DC1ENSG00000178425ENST00000419791p.L85Lc.255C>TSubstitution - coding silent
NT5EENSG00000135318ENST00000437581p.?c.297+6C>TUnknown
CRISP3ENSG00000096006ENST00000433368p.H250Pc.749A>CSubstitution - Missense
PLEKHA8ENSG00000106086ENST00000396257p.I308Nc.923T>ASubstitution - Missense
DGKBENSG00000136267ENST00000258767p.?c.1522+5T>CUnknown
LAMB4ENSG00000091128ENST00000388780p.E1533*c.4597G>TSubstitution - Nonsense
TP53ENSG00000141510ENST00000420246p.E286_E287delEEc.856_861delGAAGAGDeletion - In frame
PPP2R5AENSG00000066027ENST00000537030p.K37fs*4c.103_119del17Deletion - Frameshift
PCDH1ENSG00000156453ENST00000394536p.V497Vc.1491G>ASubstitution - coding silent
TSEN2ENSG00000154743ENST00000444864p.L245Fc.733C>TSubstitution - Missense
KIAA1731ENSG00000166004ENST00000411936p.A1727Ac.5181C>TSubstitution - coding silent
KREMEN1ENSG00000183762ENST00000400335p.Y68Fc.203A>TSubstitution - Missense
CLTCL1ENSG00000070371ENST00000427926p.?c.4042-6G>CUnknown
JAM2ENSG00000154721ENST00000312957p.L121Mc.361C>ASubstitution - Missense
D2HGDHENSG00000180902ENST00000537090p.N203Nc.609C>TSubstitution - coding silent
MALRD1ENSG00000204740ENST00000455457p.L211fs*2c.629_630insAInsertion - Frameshift
PHLPP2ENSG00000040199ENST00000360429p.F314Lc.940T>CSubstitution - Missense
PHLPP2ENSG00000040199ENST00000360429p.G192Gc.576A>CSubstitution - coding silent
IGFALSENSG00000099769ENST00000415638p.A155Ac.465G>ASubstitution - coding silent
TMPRSS6ENSG00000187045ENST00000381792p.G773Cc.2317G>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000336649p.T1211Tc.3633C>TSubstitution - coding silent
RYR2ENSG00000198626ENST00000360064p.S1765Rc.5295T>ASubstitution - Missense
GOLGA8BENSG00000215252ENST00000438958p.?c.1700-8C>AUnknown
PSME1ENSG00000092010ENST00000382708p.G169Vc.506G>TSubstitution - Missense
ITGB3ENSG00000259207ENST00000559488p.K151Tc.452A>CSubstitution - Missense
NEK8ENSG00000160602ENST00000268766p.V626Vc.1878A>TSubstitution - coding silent
SUZ12ENSG00000178691ENST00000322652p.?c.274+8T>CUnknown
CTNND1ENSG00000198561ENST00000399050p.K881Nc.2643G>TSubstitution - Missense
SLAIN1ENSG00000139737ENST00000466548p.T387Ic.1160C>TSubstitution - Missense
CPSF6ENSG00000111605ENST00000266679p.E529Kc.1585G>ASubstitution - Missense
RAB3IPENSG00000127328ENST00000378815p.P20Lc.59C>TSubstitution - Missense
CNTN1ENSG00000018236ENST00000547849p.R571Qc.1712G>ASubstitution - Missense
DENND2CENSG00000175984ENST00000393274p.Q27Rc.80A>GSubstitution - Missense
STK32CENSG00000165752ENST00000368620p.?c.413-7C>TUnknown
CYP2A7ENSG00000198077ENST00000291764p.A80Sc.238G>TSubstitution - Missense
DRD2ENSG00000149295ENST00000355319p.R227Hc.680G>ASubstitution - Missense
KCNMA1ENSG00000156113ENST00000404771p.A986Ac.2958G>ASubstitution - coding silent
KCNMA1ENSG00000156113ENST00000372443p.A1018Ac.3054G>ASubstitution - coding silent
CDK18ENSG00000117266ENST00000506784p.?c.130+3G>CUnknown
KIR3DL3ENSG00000242019ENST00000291860p.G219Dc.656G>ASubstitution - Missense
ITGB3ENSG00000259207ENST00000435993p.K104Tc.311A>CSubstitution - Missense
SH2D7ENSG00000183476ENST00000328828p.Q204Qc.612G>ASubstitution - coding silent
PAOXENSG00000148832ENST00000357296p.E162Vc.485A>TSubstitution - Missense
EZH2ENSG00000106462ENST00000350995p.G604Ec.1811G>ASubstitution - Missense
MMP26ENSG00000167346ENST00000380390p.D70Dc.210C>TSubstitution - coding silent
CRISP3ENSG00000096006ENST00000263045p.H227Pc.680A>CSubstitution - Missense
FAIMENSG00000158234ENST00000360570p.S7Nc.20G>ASubstitution - Missense
FAT2ENSG00000086570ENST00000261800p.H4208Yc.12622C>TSubstitution - Missense
OR2J2ENSG00000204700ENST00000377167p.F207Lc.619T>CSubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.E31Gc.92A>GSubstitution - Missense
AKAP9ENSG00000127914ENST00000356239p.L251Rc.752T>GSubstitution - Missense
CDH19ENSG00000071991ENST00000262150p.D363Dc.1089T>CSubstitution - coding silent
UNC79ENSG00000133958ENST00000553484p.Y1002Cc.3005A>GSubstitution - Missense
SOX5ENSG00000134532ENST00000451604p.Q576Lc.1727A>TSubstitution - Missense
CD163ENSG00000177575ENST00000359156p.G534*c.1600G>TSubstitution - Nonsense
USP5ENSG00000111667ENST00000229268p.?c.2399-8T>CUnknown
PLCG2ENSG00000197943ENST00000359376p.R1187Qc.3560G>ASubstitution - Missense
RPS6KA1ENSG00000117676ENST00000531382p.L338Ic.1012C>ASubstitution - Missense
CACNA1DENSG00000157388ENST00000288139p.?c.3175-9T>CUnknown
ZNF91ENSG00000167232ENST00000300619p.S755*c.2264C>GSubstitution - Nonsense
TSKSENSG00000126467ENST00000246801p.G187Gc.561G>TSubstitution - coding silent
NFE2ENSG00000123405ENST00000312156p.Y99Yc.297T>CSubstitution - coding silent
MTUS2ENSG00000132938ENST00000380808p.E193Kc.577G>ASubstitution - Missense
EEF2ENSG00000167658ENST00000309311p.S325Sc.975C>TSubstitution - coding silent
OR4C11ENSG00000172188ENST00000302231p.I193Ic.579C>ASubstitution - coding silent
PGRENSG00000082175ENST00000325455p.H888Yc.2662C>TSubstitution - Missense
TENM2ENSG00000145934ENST00000545108p.R1714Cc.5140C>TSubstitution - Missense
ENSG00000182329ENST00000541917p.G223*c.667G>TSubstitution - Nonsense
NBEAENSG00000172915ENST00000400445p.R2361Cc.7081C>TSubstitution - Missense
PRR23AENSG00000206260ENST00000383163p.A176Ac.528C>TSubstitution - coding silent
ENST00000237177p.H669Rc.2006A>GSubstitution - Missense
HSD17B4ENSG00000133835ENST00000256216p.K184Qc.550A>CSubstitution - Missense
COL9A1ENSG00000112280ENST00000357250p.R28Sc.82C>ASubstitution - Missense
SAGE1ENSG00000181433ENST00000324447p.L223Lc.667T>CSubstitution - coding silent
MC5RENSG00000176136ENST00000324750p.E301Gc.902A>GSubstitution - Missense
ZNF606ENSG00000166704ENST00000341164p.A772Vc.2315C>TSubstitution - Missense
NRG1ENSG00000157168ENST00000521670p.R56Wc.166C>TSubstitution - Missense
RTN4ENSG00000115310ENST00000337526p.D700Ac.2099A>CSubstitution - Missense
DPYDENSG00000188641ENST00000306031p.R29Hc.86G>ASubstitution - Missense
MYBPC2ENSG00000086967ENST00000357701p.T1024Mc.3071C>TSubstitution - Missense
MYOM2ENSG00000036448ENST00000262113p.N1381Nc.4143C>TSubstitution - coding silent
KRT6CENSG00000170465ENST00000252250p.R222Rc.666G>ASubstitution - coding silent
TENM4ENSG00000149256ENST00000278550p.E1502Dc.4506G>TSubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.R2266Qc.6797G>ASubstitution - Missense
CCDC24ENSG00000159214ENST00000372318p.R93Cc.277C>TSubstitution - Missense
DDX55ENSG00000111364ENST00000238146p.D473Ec.1419T>GSubstitution - Missense
CDH23ENSG00000107736ENST00000442677p.T294Tc.882G>ASubstitution - coding silent
SCN1AENSG00000144285ENST00000375405p.I1662Ic.4986C>TSubstitution - coding silent
SCN1AENSG00000144285ENST00000423058p.I1673Ic.5019C>TSubstitution - coding silent
PLEKHA8ENSG00000106086ENST00000396259p.I308Nc.923T>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.R3051Cc.9151C>TSubstitution - Missense
LRGUKENSG00000155530ENST00000285928p.K257Rc.770A>GSubstitution - Missense
CLTCL1ENSG00000070371ENST00000263200p.?c.4042-6G>CUnknown
KIR3DL2ENSG00000240403ENST00000326321p.?c.1106-5T>CUnknown
KIR2DS4ENSG00000221957ENST00000391729p.P89Sc.265C>TSubstitution - Missense
PLCH1ENSG00000114805ENST00000334686p.V215Vc.645G>ASubstitution - coding silent
GLIS1ENSG00000174332ENST00000312233p.T33Nc.98C>ASubstitution - Missense
RFX3ENSG00000080298ENST00000358730p.G7Gc.21G>ASubstitution - coding silent
LILRA1ENSG00000104974ENST00000251372p.L130Ic.388C>ASubstitution - Missense
TMPRSS11FENSG00000198092ENST00000356291p.D399Gc.1196A>GSubstitution - Missense
MYRFENSG00000124920ENST00000265460p.P814Pc.2442A>GSubstitution - coding silent
GLB1L3ENSG00000166105ENST00000431683p.N351Nc.1053C>TSubstitution - coding silent
A1CFENSG00000148584ENST00000282641p.A172Tc.514G>ASubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.Q1601Rc.4802A>GSubstitution - Missense
YLPM1ENSG00000119596ENST00000325680p.A388Ac.1164A>CSubstitution - coding silent
FAM151AENSG00000162391ENST00000302250p.T394Mc.1181C>TSubstitution - Missense
SCN1AENSG00000144285ENST00000303395p.I1673Ic.5019C>TSubstitution - coding silent
C1orf116ENSG00000182795ENST00000359470p.S576Nc.1727G>ASubstitution - Missense
COX5AENSG00000178741ENST00000322347p.Q36Lc.107A>TSubstitution - Missense
EPRSENSG00000136628ENST00000366923p.?c.528+6C>AUnknown
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
FBXL13ENSG00000161040ENST00000436908p.K121Ec.361A>GSubstitution - Missense
SPTBN1ENSG00000115306ENST00000356805p.V772Vc.2316G>ASubstitution - coding silent
KDM4BENSG00000127663ENST00000159111p.?c.919-5C>TUnknown
JAM2ENSG00000154721ENST00000480456p.L121Mc.361C>ASubstitution - Missense
TSPAN33ENSG00000158457ENST00000289407p.?c.103-3C>GUnknown
LATS1ENSG00000131023ENST00000253339p.A898Dc.2693C>ASubstitution - Missense
FDXACB1ENSG00000255561ENST00000260257p.R624Wc.1870C>TSubstitution - Missense
TTBK2ENSG00000128881ENST00000267890p.K1230Ec.3688A>GSubstitution - Missense
EGFLAMENSG00000164318ENST00000354891p.S177Sc.531T>CSubstitution - coding silent
UNC79ENSG00000133958ENST00000256339p.Y825Cc.2474A>GSubstitution - Missense
ENST00000312652p.P586Pc.1758C>TSubstitution - coding silent
PANX3ENSG00000154143ENST00000284288p.S169Sc.507C>TSubstitution - coding silent
MS4A4AENSG00000110079ENST00000395016p.?c.145-9C>TUnknown
OBSCNENSG00000154358ENST00000570156p.R2805Lc.8414G>TSubstitution - Missense
ARAP3ENSG00000120318ENST00000239440p.M1154Vc.3460A>GSubstitution - Missense
AGTPBP1ENSG00000135049ENST00000357081p.L93Mc.277C>ASubstitution - Missense
GLRA3ENSG00000145451ENST00000274093p.T232Ac.694A>GSubstitution - Missense
NOTCH3ENSG00000074181ENST00000263388p.G1105Gc.3315C>TSubstitution - coding silent
FHAD1ENSG00000142621ENST00000358897p.H1265Hc.3795C>TSubstitution - coding silent
KIAA1407ENSG00000163617ENST00000295878p.L687Lc.2059T>CSubstitution - coding silent
CKMENSG00000104879ENST00000221476p.R43Rc.129G>TSubstitution - coding silent
RTN4ENSG00000115310ENST00000357376p.D494Ac.1481A>CSubstitution - Missense
PDGFBENSG00000100311ENST00000331163p.E237Vc.710A>TSubstitution - Missense
ZNF480ENSG00000198464ENST00000468240p.G237Dc.710G>ASubstitution - Missense
CETN1ENSG00000177143ENST00000327228p.T138Ac.412A>GSubstitution - Missense
LINSENSG00000140471ENST00000561308p.N412Nc.1236C>TSubstitution - coding silent
MMACHCENSG00000132763ENST00000401061p.R61Qc.182G>ASubstitution - Missense
ALG13ENSG00000101901ENST00000394780p.I1115Vc.3343A>GSubstitution - Missense
IL17RDENSG00000144730ENST00000320057p.H94Hc.282C>TSubstitution - coding silent
ZNF217ENSG00000171940ENST00000371471p.K844Rc.2531A>GSubstitution - Missense
CDHR1ENSG00000148600ENST00000332904p.?c.2041-1G>AUnknown
KCNMA1ENSG00000156113ENST00000404857p.A1032Ac.3096G>ASubstitution - coding silent
NR1H4ENSG00000012504ENST00000551379p.R100Hc.299G>ASubstitution - Missense
PLCH2ENSG00000149527ENST00000378486p.D283Ac.848A>CSubstitution - Missense
FDXACB1ENSG00000255561ENST00000260257p.R624Wc.1870C>TSubstitution - Missense
KCNMA1ENSG00000156113ENST00000354353p.A1052Ac.3156G>ASubstitution - coding silent
IL17RDENSG00000144730ENST00000427856p.H214Hc.642C>TSubstitution - coding silent
NT5DC1ENSG00000178425ENST00000319550p.L85Lc.255C>TSubstitution - coding silent
FAT2ENSG00000086570ENST00000261800p.T1352Ac.4054A>GSubstitution - Missense
LRBAENSG00000198589ENST00000357115p.E2777Ec.8331A>GSubstitution - coding silent
SGSM1ENSG00000167037ENST00000400359p.P349Pc.1047G>ASubstitution - coding silent
IFIH1ENSG00000115267ENST00000263642p.G965Sc.2893G>ASubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.P1534Qc.4601C>ASubstitution - Missense
ENST00000316490p.K3462Rc.10385A>GSubstitution - Missense
CACNA1DENSG00000157388ENST00000350061p.?c.3115-9T>CUnknown
KIR3DL1ENSG00000167633ENST00000402254p.?c.1106-5T>CUnknown
ROCK1ENSG00000067900ENST00000399799p.P1321Lc.3962C>TSubstitution - Missense
ENTPD3ENSG00000168032ENST00000301825p.E415Kc.1243G>ASubstitution - Missense
HPS4ENSG00000100099ENST00000398141p.W236Rc.706T>CSubstitution - Missense
BAXENSG00000087088ENST00000293288p.D84Dc.252C>TSubstitution - coding silent
NCR2ENSG00000096264ENST00000373089p.R227Mc.680G>TSubstitution - Missense
SPTBN1ENSG00000115306ENST00000333896p.V759Vc.2277G>ASubstitution - coding silent
FAM188BENSG00000106125ENST00000265299p.Y57Hc.169T>CSubstitution - Missense
SEC24DENSG00000150961ENST00000280551p.P23Ac.67C>GSubstitution - Missense
PLCG2ENSG00000197943ENST00000359376p.R1187Qc.3560G>ASubstitution - Missense
SPEF2ENSG00000152582ENST00000356031p.E770Gc.2309A>GSubstitution - Missense
CPSF6ENSG00000111605ENST00000435070p.E492Kc.1474G>ASubstitution - Missense
CTU1ENSG00000142544ENST00000421832p.R186Lc.557G>TSubstitution - Missense
ABLIM3ENSG00000173210ENST00000504238p.?c.152-10G>TUnknown
KIAA1217ENSG00000120549ENST00000376454p.E1389fs*1c.4165_4169GAAAC>TAATComplex - frameshift
RREB1ENSG00000124782ENST00000379938p.A838Ac.2514C>TSubstitution - coding silent
SERPIND1ENSG00000099937ENST00000215727p.D149Nc.445G>ASubstitution - Missense
TTLL9ENSG00000131044ENST00000310998p.D19Dc.57C>TSubstitution - coding silent
NWD1ENSG00000188039ENST00000339803p.A157Gc.470C>GSubstitution - Missense
ENST00000335056_v70p.H88Hc.264C>TSubstitution - coding silent
GPATCH2ENSG00000092978ENST00000366935p.T437Mc.1310C>TSubstitution - Missense
MAP3K4ENSG00000085511ENST00000392142p.G817Gc.2451A>GSubstitution - coding silent
CACNA1IENSG00000100346ENST00000402142p.T1205Tc.3615C>TSubstitution - coding silent
DSTENSG00000151914ENST00000370769p.E2453Ec.7359G>ASubstitution - coding silent
EZH2ENSG00000106462ENST00000320356p.G648Ec.1943G>ASubstitution - Missense
MON1BENSG00000103111ENST00000248248p.M176Ic.528G>CSubstitution - Missense
ZNF480ENSG00000198464ENST00000335090p.G218Dc.653G>ASubstitution - Missense
ZNF606ENSG00000166704ENST00000341164p.L81Lc.243T>CSubstitution - coding silent
NM_000926.2p.H888Yc.2662C>TSubstitution - Missense
BICD1ENSG00000151746ENST00000281474p.S814Tc.2441G>CSubstitution - Missense
ENST00000340350p.L88Lc.262C>TSubstitution - coding silent
ENST00000340350p.L104Lc.312G>CSubstitution - coding silent
ZNF287ENSG00000141040ENST00000395824p.S690*c.2069C>ASubstitution - Nonsense
TENM1ENSG00000009694ENST00000422452p.P294Ac.880C>GSubstitution - Missense
BCAP29ENSG00000075790ENST00000379121p.F57Ic.169T>ASubstitution - Missense
CR1ENSG00000203710ENST00000400960p.F773Fc.2319C>TSubstitution - coding silent
CAPN9ENSG00000135773ENST00000354537p.S238Rc.712A>CSubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.R2904Lc.8711G>TSubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.R3150Cc.9448C>TSubstitution - Missense
IGSF9ENSG00000085552ENST00000361509p.S28Sc.84G>ASubstitution - coding silent
TENM2ENSG00000145934ENST00000518659p.R1715Cc.5143C>TSubstitution - Missense
PLCH1ENSG00000114805ENST00000494598p.V233Vc.699G>ASubstitution - coding silent
IGSF9ENSG00000085552ENST00000368094p.S28Sc.84G>ASubstitution - coding silent
PDGFBENSG00000100311ENST00000381551p.E222Vc.665A>TSubstitution - Missense
RASL10BENSG00000141150ENST00000268864p.R40Sc.118C>ASubstitution - Missense
DDX26BENSG00000165359ENST00000370752p.Y509Cc.1526A>GSubstitution - Missense
CCDC68ENSG00000166510ENST00000337363p.K38fs*16c.110_111insGInsertion - Frameshift
GOLGA8BENSG00000215252ENST00000267731p.?c.1610-8C>AUnknown
FBN1ENSG00000166147ENST00000316623p.L53Lc.159T>GSubstitution - coding silent
PDE7AENSG00000205268ENST00000379419p.?c.205+9T>CUnknown
ATP2A3ENSG00000074370ENST00000359983p.R637Rc.1911C>TSubstitution - coding silent
KRTAP5-2ENSG00000205867ENST00000412090p.G99Gc.297C>TSubstitution - coding silent
KRTAP5-2ENSG00000205867ENST00000412090p.G87Sc.259G>ASubstitution - Missense
MYRFENSG00000124920ENST00000278836p.P849Pc.2547A>GSubstitution - coding silent
PDGFRAENSG00000134853ENST00000257290p.?c.760-7G>TUnknown
NLGN4YENSG00000165246ENST00000382868p.I828Ic.2484C>TSubstitution - coding silent
NT5EENSG00000135318ENST00000257770p.?c.1210+6C>TUnknown
FANCD2ENSG00000144554ENST00000419585p.S271Lc.812C>TSubstitution - Missense
NBEAENSG00000172915ENST00000310336p.R2361Cc.7081C>TSubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.K993Ec.2977A>GSubstitution - Missense
PLEKHA8ENSG00000106086ENST00000449726p.I308Nc.923T>ASubstitution - Missense
ENST00000382851p.P57Rc.170C>GSubstitution - Missense
PARP8ENSG00000151883ENST00000281631p.E546Gc.1637A>GSubstitution - Missense
NEDD4LENSG00000049759ENST00000400345p.V108Lc.322G>TSubstitution - Missense
SGMS2ENSG00000164023ENST00000394684p.K350Mc.1049A>TSubstitution - Missense
PIDDENSG00000177595ENST00000347755p.P729Pc.2187T>CSubstitution - coding silent
KDM4BENSG00000127663ENST00000381759p.?c.919-5C>TUnknown
ENST00000262017p.K151Tc.452A>CSubstitution - Missense
UQCC1ENSG00000101019ENST00000374385p.K107*c.319A>TSubstitution - Nonsense
TP53ENSG00000141510ENST00000269305p.E286_E287delEEc.856_861delGAAGAGDeletion - In frame
SPENENSG00000065526ENST00000375759p.E950Dc.2850A>TSubstitution - Missense
ATP10AENSG00000206190ENST00000356865p.A666Tc.1996G>ASubstitution - Missense
ANO4ENSG00000151572ENST00000392979p.R152Kc.455G>ASubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.Q1421Hc.4263G>CSubstitution - Missense
ENST00000440800p.A94Vc.281C>TSubstitution - Missense
DCST2ENSG00000163354ENST00000368424p.R167Hc.500G>ASubstitution - Missense
ENST00000328843_v70p.R2051Qc.6152G>ASubstitution - Missense
ENST00000542178p.K94fs*4c.274_290del17Deletion - Frameshift
PDPRENSG00000090857ENST00000288050p.T731Mc.2192C>TSubstitution - Missense
C20orf194ENSG00000088854ENST00000252032p.P1039Tc.3115C>ASubstitution - Missense
NOC4LENSG00000184967ENST00000330579p.L441Fc.1321C>TSubstitution - Missense
ZNF318ENSG00000171467ENST00000361428p.S568Rc.1704C>ASubstitution - Missense
TNRC6AENSG00000090905ENST00000395799p.?c.3528+6C>TUnknown
NEBENSG00000183091ENST00000409198p.P2116Pc.6348T>CSubstitution - coding silent
SRRM2ENSG00000167978ENST00000301740p.R2052Pc.6155G>CSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.E286_E287delEEc.856_861delGAAGAGDeletion - In frame
ZACNENSG00000186919ENST00000334586p.S90Sc.270C>TSubstitution - coding silent
CTNNA3ENSG00000183230ENST00000433211p.?c.1128+7G>TUnknown
C1orf110ENSG00000185860ENST00000367910p.K229Qc.685A>CSubstitution - Missense
SCYL3ENSG00000000457ENST00000367772p.T268Ac.802A>GSubstitution - Missense
SYTL2ENSG00000137501ENST00000316356p.L428Lc.1284A>GSubstitution - coding silent
DENND1BENSG00000213047ENST00000367396p.L303Lc.909A>GSubstitution - coding silent
EPS8L3ENSG00000198758ENST00000369805p.L342Lc.1026C>ASubstitution - coding silent
DRD2ENSG00000149295ENST00000362072p.R227Hc.680G>ASubstitution - Missense
DENND2AENSG00000146966ENST00000492720p.K717Nc.2151G>TSubstitution - Missense
DTNBENSG00000138101ENST00000288642p.R9Rc.27G>ASubstitution - coding silent
ENST00000349637p.S670Pc.2008T>CSubstitution - Missense
KCNMA1ENSG00000156113ENST00000286627p.A991Ac.2973G>ASubstitution - coding silent
TBX10ENSG00000167800ENST00000335385p.R163Cc.487C>TSubstitution - Missense
POU5F2ENSG00000248483ENST00000510627p.E71Kc.211G>ASubstitution - Missense
ATXN7L1ENSG00000146776ENST00000419735p.T720Nc.2159C>ASubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.G1762Gc.5286T>CSubstitution - coding silent
ANXA13ENSG00000104537ENST00000262219p.E167Kc.499G>ASubstitution - Missense
SERINC2ENSG00000168528ENST00000373710p.T416Tc.1248C>ASubstitution - coding silent
IRG1ENSG00000102794ENST00000377462p.E465_A467delEVAc.1391_1399delCAGAGGTAGDeletion - In frame
MARCH6ENSG00000145495ENST00000274140p.G896Dc.2687G>ASubstitution - Missense
NRG1ENSG00000157168ENST00000356819p.R56Wc.166C>TSubstitution - Missense
ALG13ENSG00000101901ENST00000251943p.I932Vc.2794A>GSubstitution - Missense
SNTG1ENSG00000147481ENST00000518864p.?c.363+3G>TUnknown
SU_NEK8p.V637Vc.1911A>TSubstitution - coding silent
NBNENSG00000104320ENST00000265433p.K613Ec.1837A>GSubstitution - Missense
PRSS1ENSG00000204983ENST00000311737p.V123Mc.367G>ASubstitution - Missense
RUNX1ENSG00000159216ENST00000300305p.R207Qc.620G>ASubstitution - Missense
MTUS2ENSG00000132938ENST00000431530p.E1224Kc.3670G>ASubstitution - Missense
FGD6ENSG00000180263ENST00000343958p.V178Ic.532G>ASubstitution - Missense
CD163L1ENSG00000177675ENST00000313599p.Y255Hc.763T>CSubstitution - Missense
ZFYVE1ENSG00000165861ENST00000556143p.V531Ac.1592T>CSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.H396Dc.1186C>GSubstitution - Missense
HRNRENSG00000197915ENST00000368801p.S1916Rc.5748C>ASubstitution - Missense
KCNK7ENSG00000173338ENST00000340313p.G273Sc.817G>ASubstitution - Missense
SCG3ENSG00000104112ENST00000220478p.?c.869-7C>TUnknown
SAGE1ENSG00000181433ENST00000535938p.L223Lc.667T>CSubstitution - coding silent
COL4A5ENSG00000188153ENST00000328300p.E1165Kc.3493G>ASubstitution - Missense
ARNT2ENSG00000172379ENST00000303329p.?c.2056-3C>TUnknown
SU_OBSCN.1p.R2921Cc.8761C>TSubstitution - Missense
HIST3H3ENSG00000168148ENST00000366696p.D78Ec.234C>GSubstitution - Missense
DPY19L2ENSG00000177990ENST00000324472p.R86Lc.257G>TSubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.?c.1107+2T>CUnknown
ATP4AENSG00000105675ENST00000262623p.E691Gc.2072A>GSubstitution - Missense
SARDHENSG00000123453ENST00000371872p.L890Lc.2670G>ASubstitution - coding silent
SLC12A2ENSG00000064651ENST00000262461p.E484Ec.1452A>GSubstitution - coding silent
ITKENSG00000113263ENST00000422843p.?c.326-4T>AUnknown
RBBP6ENSG00000122257ENST00000319715p.P236Pc.708T>CSubstitution - coding silent
PHLPP2ENSG00000040199ENST00000356272p.G192Gc.576A>CSubstitution - coding silent
CACNA1IENSG00000100346ENST00000400164p.T1170Tc.3510C>TSubstitution - coding silent
DTNBENSG00000138101ENST00000406818p.R9Rc.27G>ASubstitution - coding silent
ZNF606ENSG00000166704ENST00000341164p.L81Lc.243T>CSubstitution - coding silent
VPS54ENSG00000143952ENST00000272322p.L959Sc.2876T>CSubstitution - Missense
C1orf159ENSG00000131591ENST00000448924p.P272Qc.815C>ASubstitution - Missense
NBEAENSG00000172915ENST00000400445p.E1588Ec.4764G>ASubstitution - coding silent
ENST00000319748p.R12Hc.35G>ASubstitution - Missense
SPAG9ENSG00000008294ENST00000357122p.S333Fc.998C>TSubstitution - Missense
MTMR9ENSG00000104643ENST00000221086p.R359Hc.1076G>ASubstitution - Missense
COL19A1ENSG00000082293ENST00000322773p.P984Tc.2950C>ASubstitution - Missense
AKAP8ENSG00000105127ENST00000269701p.D65Ec.195T>GSubstitution - Missense
PPP1R16BENSG00000101445ENST00000299824p.T231Ac.691A>GSubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.V1122Lc.3364G>CSubstitution - Missense
D2HGDHENSG00000180902ENST00000321264p.N203Nc.609C>TSubstitution - coding silent
GFM2ENSG00000164347ENST00000296805p.E466Qc.1396G>CSubstitution - Missense
MTMR8ENSG00000102043ENST00000374852p.G689_T695delGISKASTc.2064_2084del21Deletion - In frame
DNERENSG00000187957ENST00000341772p.N315Tc.944A>CSubstitution - Missense
TENM1ENSG00000009694ENST00000371130p.P294Ac.880C>GSubstitution - Missense
CD300AENSG00000167851ENST00000360141p.F56fs*33c.164delTDeletion - Frameshift
ENST00000405167p.T2219Tc.6657A>GSubstitution - coding silent
NHLRC3ENSG00000188811ENST00000379600p.L45fs*33c.131delTDeletion - Frameshift
ENST00000344371p.R149Rc.447G>ASubstitution - coding silent
TPH2ENSG00000139287ENST00000333850p.?c.1164+7A>GUnknown
CLCN7ENSG00000103249ENST00000382745p.?c.1883+7C>TUnknown
RHCEENSG00000188672ENST00000413854p.K369Kc.1107G>ASubstitution - coding silent
ACOT11ENSG00000162390ENST00000371316p.K396Tc.1187A>CSubstitution - Missense
NLRP8ENSG00000179709ENST00000291971p.F382Fc.1146C>TSubstitution - coding silent
MMP21ENSG00000154485ENST00000368808p.P445Ac.1333C>GSubstitution - Missense
CAPN9ENSG00000135773ENST00000271971p.S238Rc.712A>CSubstitution - Missense
GRIK4ENSG00000149403ENST00000527524p.K464Rc.1391A>GSubstitution - Missense
WDR65ENSG00000243710ENST00000528956p.P260Tc.778C>ASubstitution - Missense
ENST00000388903p.R1548Cc.4642C>TSubstitution - Missense
OR5D18ENSG00000186119ENST00000333976p.V281Ac.842T>CSubstitution - Missense
HK3ENSG00000160883ENST00000292432p.G814Gc.2442G>TSubstitution - coding silent
TFAP2DENSG00000008197ENST00000008391p.G187Vc.560G>TSubstitution - Missense
APOOENSG00000184831ENST00000379226p.W95Gc.283T>GSubstitution - Missense
PLCH1ENSG00000114805ENST00000447496p.V233Vc.699G>ASubstitution - coding silent
EPB41L4AENSG00000129595ENST00000261486p.N217Dc.649A>GSubstitution - Missense
ZNF446ENSG00000083838ENST00000335841p.H60Lc.179A>TSubstitution - Missense
DMWDENSG00000185800ENST00000270223p.P569Lc.1706C>TSubstitution - Missense
MTO1ENSG00000135297ENST00000370300p.T149Ac.445A>GSubstitution - Missense
COL9A1ENSG00000112280ENST00000357250p.P29Tc.85C>ASubstitution - Missense
SSBP2ENSG00000145687ENST00000320672p.K21Nc.63G>CSubstitution - Missense
ENST00000291050p.P122Ac.364C>GSubstitution - Missense
PCNTENSG00000160299ENST00000359568p.R2981Qc.8942G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T2219Tc.6657A>GSubstitution - coding silent
SF3A1ENSG00000099995ENST00000215793p.N177Nc.531T>CSubstitution - coding silent
ZNF845ENSG00000213799ENST00000458035p.R459Ic.1376G>TSubstitution - Missense
MS4A4AENSG00000110079ENST00000337908p.?c.202-9C>TUnknown
LUZP2ENSG00000187398ENST00000336930p.S254Rc.762C>GSubstitution - Missense
NINENSG00000100503ENST00000382041p.T1558Mc.4673C>TSubstitution - Missense
USP5ENSG00000111667ENST00000389231p.?c.2330-8T>CUnknown
SPAG9ENSG00000008294ENST00000505279p.S333Fc.998C>TSubstitution - Missense
MICALL2ENSG00000164877ENST00000297508p.G546Sc.1636G>ASubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.E31Gc.92A>GSubstitution - Missense
ENST00000360245p.F136Lc.406T>CSubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.R2266Qc.6797G>ASubstitution - Missense
COG7ENSG00000168434ENST00000307149p.A618Vc.1853C>TSubstitution - Missense
NM_173357.2p.D186Yc.556G>TSubstitution - Missense
DUSP18ENSG00000167065ENST00000404885p.A35Tc.103G>ASubstitution - Missense
ALDH1L1ENSG00000144908ENST00000393434p.N861Sc.2582A>GSubstitution - Missense
KCNN1ENSG00000105642ENST00000222249p.K119Mc.356A>TSubstitution - Missense
PLD1ENSG00000075651ENST00000351298p.?c.3000+2T>AUnknown
ZNF534ENSG00000198633ENST00000332323p.H497Hc.1491T>CSubstitution - coding silent
ENST00000375935p.D51Dc.153C>TSubstitution - coding silent
NRAPENSG00000197893ENST00000359988p.A1503Pc.4507G>CSubstitution - Missense
NUDT8ENSG00000167799ENST00000301490p.L102Lc.306G>ASubstitution - coding silent
NTHL1ENSG00000065057ENST00000219066p.G231Gc.693C>TSubstitution - coding silent


COSMIC

0 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