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TE-15 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

892 mutations reported
331 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
SPATA3ENSG00000173699ENST00000452881p.F134Fc.402C>TSubstitution - coding silent
COL5A3ENSG00000080573ENST00000264828p.P409Pc.1227C>TSubstitution - coding silent
GMIPENSG00000089639ENST00000203556p.G427Dc.1280G>ASubstitution - Missense
DCHS2ENSG00000197410ENST00000443500p.P182Sc.544C>TSubstitution - Missense
PDE1CENSG00000154678ENST00000396193p.K123Nc.369G>CSubstitution - Missense
DHX16ENSG00000204560ENST00000376442p.R813Qc.2438G>ASubstitution - Missense
WDR24ENSG00000127580ENST00000248142p.?c.1841+9C>TUnknown
SRSF10ENSG00000188529ENST00000344989p.?c.491+9C>TUnknown
PPIL2ENSG00000100023ENST00000412327p.I266Ic.798C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000413465p.?c.560-1G>AUnknown
DISP1ENSG00000154309ENST00000284476p.E1069Qc.3205G>CSubstitution - Missense
WNT4ENSG00000162552ENST00000290167p.R203Qc.608G>ASubstitution - Missense
ACADSENSG00000122971ENST00000242592p.G368Gc.1104C>TSubstitution - coding silent
CACNB2ENSG00000165995ENST00000396576p.E468Qc.1402G>CSubstitution - Missense
GDI2ENSG00000057608ENST00000380191p.I321Vc.961A>GSubstitution - Missense
ATAD3AENSG00000197785ENST00000378755p.?c.1759-6C>GUnknown
IGFN1ENSG00000163395ENST00000335211p.R344Wc.1030C>TSubstitution - Missense
PLCG2ENSG00000197943ENST00000359376p.V1158Vc.3474C>GSubstitution - coding silent
C9orf3ENSG00000148120ENST00000375315p.R790Tc.2369G>CSubstitution - Missense
SCINENSG00000006747ENST00000297029p.F513Vc.1537T>GSubstitution - Missense
COL18A1ENSG00000182871ENST00000355480p.V405Mc.1213G>ASubstitution - Missense
MAPK7ENSG00000166484ENST00000308406p.P440Pc.1320A>GSubstitution - coding silent
DLG1ENSG00000075711ENST00000419354p.?c.1386-10T>CUnknown
GCFC2ENSG00000005436ENST00000321027p.?c.1020+7A>GUnknown
ELOVL2ENSG00000197977ENST00000354666p.S194Cc.581C>GSubstitution - Missense
WDR87ENSG00000171804ENST00000303868p.R919Cc.2755C>TSubstitution - Missense
DCUN1D1ENSG00000043093ENST00000292782p.?c.389+1_390-1del2524Unknown
ENST00000378305_v68p.G44Gc.132T>CSubstitution - coding silent
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
PPWD1ENSG00000113593ENST00000261308p.?c.521+3G>AUnknown
CELF6ENSG00000140488ENST00000395258p.L221Lc.663C>GSubstitution - coding silent
TRPM6ENSG00000119121ENST00000449912p.K355Kc.1065A>GSubstitution - coding silent
ALOX5ENSG00000012779ENST00000374391p.I70Ic.210C>TSubstitution - coding silent
PLEKHH1ENSG00000054690ENST00000329153p.R673Qc.2018G>ASubstitution - Missense
ZFP91-CNTFENSG00000255073ENST00000389919p.E513Kc.1537G>ASubstitution - Missense
GALNT9ENSG00000182870ENST00000397325p.F212Sc.635T>CSubstitution - Missense
ATP13A2ENSG00000159363ENST00000326735p.P793Pc.2379G>ASubstitution - coding silent
PAPLNENSG00000100767ENST00000340738p.Q515Qc.1545G>ASubstitution - coding silent
CACNB2ENSG00000165995ENST00000352115p.E499Qc.1495G>CSubstitution - Missense
KDM5BENSG00000117139ENST00000367265p.D129Dc.387C>TSubstitution - coding silent
ALOX15ENSG00000161905ENST00000545513p.F116Fc.348C>TSubstitution - coding silent
PGM1ENSG00000079739ENST00000371084p.G421Dc.1262G>ASubstitution - Missense
VAV1ENSG00000141968ENST00000304076p.V713Ic.2137G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.I9057Ic.27171A>TSubstitution - coding silent
ENST00000331986p.I4690Ic.14070A>TSubstitution - coding silent
SPATA2ENSG00000158480ENST00000289431p.L191Lc.573G>ASubstitution - coding silent
BAIAP2L1ENSG00000006453ENST00000005260p.I243Fc.727A>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.T14121Ic.42362C>TSubstitution - Missense
TTNENSG00000155657ENST00000342175p.I23130Tc.69389T>CSubstitution - Missense
PRKCGENSG00000126583ENST00000263431p.E237Ec.711G>ASubstitution - coding silent
ZNF28ENSG00000198538ENST00000457749p.M210Kc.629T>ASubstitution - Missense
SEC24BENSG00000138802ENST00000265175p.I291Vc.871A>GSubstitution - Missense
DPH3ENSG00000154813ENST00000488423p.V80fs*1c.238_239delGTDeletion - Frameshift
NAA35ENSG00000135040ENST00000361671p.T459Sc.1376C>GSubstitution - Missense
ABCC3ENSG00000108846ENST00000427699p.L45Lc.135G>TSubstitution - coding silent
HARS2ENSG00000112855ENST00000230771p.R485Kc.1454G>ASubstitution - Missense
DHX16ENSG00000204560ENST00000376442p.R813Qc.2438G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
SPOCK3ENSG00000196104ENST00000421836p.S125*c.374C>GSubstitution - Nonsense
ABLIM2ENSG00000163995ENST00000296372p.R474Rc.1422G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000448038p.Q5658Qc.16974G>ASubstitution - coding silent
SDK2ENSG00000069188ENST00000392650p.V1950Mc.5848G>ASubstitution - Missense
GIT2ENSG00000139436ENST00000355312p.M539Ic.1617G>TSubstitution - Missense
CELF6ENSG00000140488ENST00000287202p.L334Lc.1002C>GSubstitution - coding silent
UCP2ENSG00000175567ENST00000310473p.L29Lc.87C>GSubstitution - coding silent
GALNT9ENSG00000182870ENST00000397325p.Y93Hc.277T>CSubstitution - Missense
LGALS8ENSG00000116977ENST00000527974p.Q158Qc.474A>GSubstitution - coding silent
ENST00000393462p.K449delKc.1345_1347delAAGDeletion - In frame
F5ENSG00000198734ENST00000367797p.Y1677Hc.5029T>CSubstitution - Missense
BLZF1ENSG00000117475ENST00000367808p.R179Hc.536G>ASubstitution - Missense
PRKG1ENSG00000185532ENST00000373980p.P289Lc.866C>TSubstitution - Missense
AMY1CENSG00000187733ENST00000370079p.Y362Cc.1085A>GSubstitution - Missense
ZNF598ENSG00000167962ENST00000431526p.Q357Hc.1071G>TSubstitution - Missense
MAPK6ENSG00000069956ENST00000261845p.A532Ac.1596A>GSubstitution - coding silent
PTPRBENSG00000127329ENST00000261266p.I1579Ic.4737C>ASubstitution - coding silent
ENST00000268613_v61p.P134Pc.402A>TSubstitution - coding silent
SIGLEC8ENSG00000105366ENST00000321424p.Y135*c.405C>GSubstitution - Nonsense
PTK2BENSG00000120899ENST00000544172p.K956Tc.2867A>CSubstitution - Missense
TTNENSG00000155657ENST00000359218p.T14054Ic.42161C>TSubstitution - Missense
POTEDENSG00000166351ENST00000299443p.S515Tc.1544G>CSubstitution - Missense
MYH9ENSG00000100345ENST00000216181p.N351Nc.1053C>TSubstitution - coding silent
RPF2ENSG00000197498ENST00000441448p.L189Lc.567G>ASubstitution - coding silent
ZNF236ENSG00000130856ENST00000543926p.P1456Lc.4367C>TSubstitution - Missense
DSPENSG00000096696ENST00000379802p.Q1648Rc.4943A>GSubstitution - Missense
LCN15ENSG00000177984ENST00000316144p.?c.419-5C>TUnknown
HLA-CENSG00000204525ENST00000383329p.S140Ac.418T>GSubstitution - Missense
SERPINB1ENSG00000021355ENST00000380739p.S305Yc.914C>ASubstitution - Missense
ENST00000388903p.T748Nc.2243C>ASubstitution - Missense
WDR24ENSG00000127580ENST00000293883p.?c.1451+9C>TUnknown
ENST00000256343_v70p.K295Rc.884A>GSubstitution - Missense
TENM2ENSG00000145934ENST00000545108p.T915Nc.2744C>ASubstitution - Missense
IFI16ENSG00000163565ENST00000295809p.I758Lc.2272A>CSubstitution - Missense
ACSS3ENSG00000111058ENST00000548058p.E573Ec.1719G>ASubstitution - coding silent
BBS1ENSG00000174483ENST00000318312p.M203Vc.607A>GSubstitution - Missense
PATL1ENSG00000166889ENST00000300146p.P279Pc.837C>TSubstitution - coding silent
TTLL6ENSG00000170703ENST00000433608p.Y34Hc.100T>CSubstitution - Missense
MELKENSG00000165304ENST00000298048p.L257Vc.769C>GSubstitution - Missense
HGSENSG00000185359ENST00000329138p.Y63Cc.188A>GSubstitution - Missense
AQP4ENSG00000171885ENST00000383168p.T31Sc.91A>TSubstitution - Missense
ENST00000356127p.I29433Tc.88298T>CSubstitution - Missense
RTEL1ENSG00000258366ENST00000370018p.?c.1135+1G>AUnknown
ZSCAN5BENSG00000197213ENST00000358992p.M412Tc.1235T>CSubstitution - Missense
ENST00000323383p.L11Lc.33C>TSubstitution - coding silent
BAXENSG00000087088ENST00000345358p.P88Sc.262C>TSubstitution - Missense
TRIOENSG00000038382ENST00000344204p.A989Ac.2967C>TSubstitution - coding silent
ABCC3ENSG00000108846ENST00000285238p.L45Lc.135G>TSubstitution - coding silent
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
YBX1ENSG00000065978ENST00000436427p.P300Sc.898C>TSubstitution - Missense
ENST00000545858p.?c.281-1G>AUnknown
BCRENSG00000186716ENST00000305877p.E1270Dc.3810A>TSubstitution - Missense
HRNRENSG00000197915ENST00000368801p.G1064Sc.3190G>ASubstitution - Missense
STIM1ENSG00000167323ENST00000300737p.V485Mc.1453G>ASubstitution - Missense
PATL1ENSG00000166889ENST00000300146p.P279Pc.837C>TSubstitution - coding silent
CDH24ENSG00000139880ENST00000487137p.V192Ic.574G>ASubstitution - Missense
ARID5BENSG00000150347ENST00000279873p.Q946Hc.2838G>CSubstitution - Missense
ANO4ENSG00000151572ENST00000392979p.V513Ic.1537G>ASubstitution - Missense
PAPLNENSG00000100767ENST00000427855p.Q542Qc.1626G>ASubstitution - coding silent
MMP27ENSG00000137675ENST00000260229p.D204Dc.612T>CSubstitution - coding silent
C15orf57ENSG00000128891ENST00000558750p.D181Dc.543C>TSubstitution - coding silent
SPATA7ENSG00000042317ENST00000393545p.?c.20-2_21delagTCUnknown
TNS1ENSG00000079308ENST00000171887p.S445Rc.1333A>CSubstitution - Missense
EFCAB5ENSG00000176927ENST00000394835p.C987Cc.2961T>CSubstitution - coding silent
ZNF343ENSG00000088876ENST00000278772p.R199Rc.595A>CSubstitution - coding silent
ENST00000339538p.E162*c.484G>TSubstitution - Nonsense
RARBENSG00000077092ENST00000404969p.T3Sc.8C>GSubstitution - Missense
ZSCAN5BENSG00000197213ENST00000358992p.M412Tc.1235T>CSubstitution - Missense
AUTS2ENSG00000158321ENST00000342771p.Q784Qc.2352G>ASubstitution - coding silent
MAPK14ENSG00000112062ENST00000229795p.?c.610+10G>AUnknown
ZNF236ENSG00000130856ENST00000253159p.P1456Lc.4367C>TSubstitution - Missense
MAMDC4ENSG00000177943ENST00000445819p.A93Tc.277G>ASubstitution - Missense
PTPRDENSG00000153707ENST00000537002p.D277Yc.829G>TSubstitution - Missense
ANKRD24ENSG00000089847ENST00000262970p.L1138Lc.3414G>TSubstitution - coding silent
TENM2ENSG00000145934ENST00000518659p.T915Nc.2744C>ASubstitution - Missense
PDE1CENSG00000154678ENST00000396184p.K63Nc.189G>CSubstitution - Missense
SMC6ENSG00000163029ENST00000381272p.D154Dc.462T>CSubstitution - coding silent
POF1BENSG00000124429ENST00000373145p.E250*c.748G>TSubstitution - Nonsense
TP53ENSG00000141510ENST00000269305p.R342*c.1024C>TSubstitution - Nonsense
ENSG00000203691ENST00000366845p.V71_P72delVPc.211_216delGTGCCADeletion - In frame
MOGAT2ENSG00000166391ENST00000198801p.?c.475+5G>CUnknown
GALNT9ENSG00000182870ENST00000328957p.Y459Hc.1375T>CSubstitution - Missense
POLEENSG00000177084ENST00000320574p.T528Tc.1584G>ASubstitution - coding silent
RNF19BENSG00000116514ENST00000356990p.G359Gc.1077G>ASubstitution - coding silent
KIAA2013ENSG00000116685ENST00000376572p.A575Ac.1725C>TSubstitution - coding silent
UNC119BENSG00000175970ENST00000344651p.R216Hc.647G>ASubstitution - Missense
FANCFENSG00000183161ENST00000327470p.R138Rc.414C>TSubstitution - coding silent
C1orf127ENSG00000175262ENST00000377004p.G278Gc.834T>CSubstitution - coding silent
HCAR2ENSG00000182782ENST00000328880p.E12Kc.34G>ASubstitution - Missense
XM_031689.7p.Q1931Ec.5791C>GSubstitution - Missense
CATSPERBENSG00000133962ENST00000256343p.K295Rc.884A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.R5805Rc.17413A>CSubstitution - coding silent
ENST00000339740p.L440Fc.1320G>CSubstitution - Missense
ENSG00000129951ENST00000359894p.S31Yc.92C>ASubstitution - Missense
FBXO39ENSG00000177294ENST00000321535p.T344Ic.1031C>TSubstitution - Missense
OBSL1ENSG00000124006ENST00000404537p.E937delEc.2810_2812delAGGDeletion - In frame
MIOXENSG00000100253ENST00000216075p.V77Mc.229G>ASubstitution - Missense
METENSG00000105976ENST00000318493p.K595Tc.1784A>CSubstitution - Missense
PCDHAC2ENSG00000243232ENST00000289269p.S803Gc.2407A>GSubstitution - Missense
TMEM176AENSG00000002933ENST00000004103p.R152Hc.455G>ASubstitution - Missense
TCTE1ENSG00000146221ENST00000371505p.E310Qc.928G>CSubstitution - Missense
ERI3ENSG00000117419ENST00000456170p.L10Lc.30A>GSubstitution - coding silent
DLC1ENSG00000164741ENST00000316609p.R351Wc.1051C>TSubstitution - Missense
ANKRD30AENSG00000148513ENST00000361713p.R1327Cc.3979C>TSubstitution - Missense
MBD6ENSG00000166987ENST00000355673p.P210Pc.630C>GSubstitution - coding silent
GALNT9ENSG00000182870ENST00000535228p.Y210Hc.628T>CSubstitution - Missense
CHMLENSG00000203668ENST00000366553p.I617Vc.1849A>GSubstitution - Missense
GOLGA8MENSG00000188626ENST00000563027p.S553Fc.1658C>TSubstitution - Missense
SORCS1ENSG00000108018ENST00000344440p.E122Dc.366G>TSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.R952Qc.2855G>ASubstitution - Missense
SF3A3ENSG00000183431ENST00000373019p.R338*c.1012C>TSubstitution - Nonsense
C1orf127ENSG00000175262ENST00000377008p.G111Gc.333T>CSubstitution - coding silent
EIF3FENSG00000175390ENST00000309828p.E181Dc.543G>TSubstitution - Missense
ENST00000371759_v68p.T122Tc.366C>GSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.S10919Fc.32756C>TSubstitution - Missense
ATP1B2ENSG00000129244ENST00000250111p.T270Ac.808A>GSubstitution - Missense
RNF213ENSG00000173821ENST00000336301p.?c.7294-4G>AUnknown
BCL2L1ENSG00000171552ENST00000376062p.A149Ac.447A>GSubstitution - coding silent
GTPBP10ENSG00000105793ENST00000222511p.P312Pc.936A>GSubstitution - coding silent
PARD3BENSG00000116117ENST00000358768p.R357Rc.1071G>ASubstitution - coding silent
LILRA6ENSG00000244482ENST00000396365p.R267Rc.801C>TSubstitution - coding silent
NDST3ENSG00000164100ENST00000296499p.A67Tc.199G>ASubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.P2117Lc.6350C>TSubstitution - Missense
C6orf222ENSG00000189325ENST00000437635p.Q555Kc.1663C>ASubstitution - Missense
MTRRENSG00000124275ENST00000264668p.S216Cc.647C>GSubstitution - Missense
ENPP1ENSG00000197594ENST00000360971p.P807Ac.2419C>GSubstitution - Missense
WDR62ENSG00000075702ENST00000270301p.?c.1642+9G>AUnknown
PTPRDENSG00000153707ENST00000381196p.D280Yc.838G>TSubstitution - Missense
TENM2ENSG00000145934ENST00000519204p.T794Nc.2381C>ASubstitution - Missense
STAG3ENSG00000066923ENST00000426455p.R1172*c.3514C>TSubstitution - Nonsense
MUC4ENSG00000145113ENST00000463781p.H3197Qc.9591C>GSubstitution - Missense
SVILENSG00000197321ENST00000355867p.G1510Dc.4529G>ASubstitution - Missense
SMARCA5ENSG00000153147ENST00000283131p.L213Vc.637C>GSubstitution - Missense
CEP70ENSG00000114107ENST00000264982p.?c.945-7C>TUnknown
PHF3ENSG00000118482ENST00000262043p.F1114Vc.3340T>GSubstitution - Missense
SEMA4DENSG00000187764ENST00000450295p.R35Tc.104G>CSubstitution - Missense
DHX38ENSG00000140829ENST00000268482p.R669Wc.2005C>TSubstitution - Missense
HLA-DRB5ENSG00000198502ENST00000374975p.Q178Hc.534G>TSubstitution - Missense
MIOXENSG00000100253ENST00000395733p.V77Mc.229G>ASubstitution - Missense
TDRD5ENSG00000162782ENST00000444136p.E867Qc.2599G>CSubstitution - Missense
PTPRDENSG00000153707ENST00000397617p.D270Yc.808G>TSubstitution - Missense
KPNA3ENSG00000102753ENST00000261667p.E451Dc.1353A>TSubstitution - Missense
NOL12ENSG00000100101ENST00000359114p.R195Cc.583C>TSubstitution - Missense
MAP10ENSG00000212916ENST00000418460p.P133Pc.399C>TSubstitution - coding silent
XRRA1ENSG00000166435ENST00000340360p.Y156Yc.468C>TSubstitution - coding silent
MYOCENSG00000034971ENST00000037502p.G12Rc.34G>CSubstitution - Missense
TBX19ENSG00000143178ENST00000367821p.T96Tc.288G>ASubstitution - coding silent
TCHHENSG00000159450ENST00000368804p.R1131Kc.3392G>ASubstitution - Missense
SZT2ENSG00000198198ENST00000562955p.R1794Qc.5381G>ASubstitution - Missense
ADARENSG00000160710ENST00000368474p.C1081Sc.3242G>CSubstitution - Missense
MDM1ENSG00000111554ENST00000303145p.?c.2033-1G>CUnknown
NEMFENSG00000165525ENST00000298310p.K455Rc.1364A>GSubstitution - Missense
C8AENSG00000157131ENST00000361249p.R189Qc.566G>ASubstitution - Missense
VPS18ENSG00000104142ENST00000220509p.E746Qc.2236G>CSubstitution - Missense
MGAT5BENSG00000167889ENST00000301618p.A400Ac.1200G>ASubstitution - coding silent
CHTF18ENSG00000127586ENST00000262315p.T753Mc.2258C>TSubstitution - Missense
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
ENST00000296473_v70p.R9Wc.25C>TSubstitution - Missense
KRTAP9-4ENSG00000241595ENST00000334109p.C62_Q63insRTTCCc.176_177ins15Insertion - In frame
PARD3BENSG00000116117ENST00000351153p.R357Rc.1071G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.S3429Nc.10286G>ASubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.L2494Vc.7480C>GSubstitution - Missense
PRKDCENSG00000253729ENST00000314191p.L660Lc.1980G>ASubstitution - coding silent
ZFP62ENSG00000196670ENST00000512132p.L867Lc.2599C>TSubstitution - coding silent
TBC1D8ENSG00000204634ENST00000409318p.H597Yc.1789C>TSubstitution - Missense
SSBP4ENSG00000130511ENST00000270061p.G217Sc.649G>ASubstitution - Missense
CSTAENSG00000121552ENST00000264474p.?c.167_169-3del3790Unknown
KIAA0408ENSG00000189367ENST00000483725p.A172Pc.514G>CSubstitution - Missense
TSPAN6ENSG00000000003ENST00000373020p.M89Vc.265A>GSubstitution - Missense
COL4A3BPENSG00000113163ENST00000405807p.L30Lc.90C>TSubstitution - coding silent
PTPRDENSG00000153707ENST00000355233p.D280Yc.838G>TSubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.D280Yc.838G>TSubstitution - Missense
SUSD2ENSG00000099994ENST00000358321p.Q713Hc.2139G>TSubstitution - Missense
DHX38ENSG00000140829ENST00000268482p.R834Rc.2502G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000448038p.L4538Vc.13612C>GSubstitution - Missense
ENST00000397678p.Y169Cc.506A>GSubstitution - Missense
LMF1ENSG00000103227ENST00000262301p.P457Pc.1371G>ASubstitution - coding silent
CSPG4ENSG00000173546ENST00000308508p.K1709Kc.5127G>ASubstitution - coding silent
MARSENSG00000166986ENST00000262027p.P800Tc.2398C>ASubstitution - Missense
KCNJ11ENSG00000187486ENST00000339994p.S212Sc.636C>TSubstitution - coding silent
KRTAP5-2ENSG00000205867ENST00000412090p.G99Gc.297C>TSubstitution - coding silent
ZNF664ENSG00000179195ENST00000337815p.I261Vc.781A>GSubstitution - Missense
PPM1JENSG00000155367ENST00000309276p.V272Vc.816G>TSubstitution - coding silent
ENSG00000129951ENST00000359894p.S211*c.632C>GSubstitution - Nonsense
TTC3ENSG00000182670ENST00000354749p.?c.5850+1_5851-1del2206Unknown
C21orf90ENSG00000182912ENST00000330490p.A52Tc.154G>ASubstitution - Missense
CECR2ENSG00000099954ENST00000262608p.R1020Tc.3059G>CSubstitution - Missense
DLG1ENSG00000075711ENST00000346964p.?c.1386-10T>CUnknown
NM_206943.1p.?c.4274-4G>AUnknown
NLRC3ENSG00000167984ENST00000301749p.I1032Tc.3095T>CSubstitution - Missense
ENST00000304488p.L52Vc.154C>GSubstitution - Missense
PCDH10ENSG00000138650ENST00000264360p.D469Ec.1407C>ASubstitution - Missense
LXNENSG00000079257ENST00000264265p.V199Ic.595G>ASubstitution - Missense
SLC38A7ENSG00000103042ENST00000219320p.T374Tc.1122G>ASubstitution - coding silent
KIAA1324LENSG00000164659ENST00000450689p.?c.1731+8C>TUnknown
ASPHD1ENSG00000174939ENST00000308748p.A108Tc.322G>ASubstitution - Missense
PLCB1ENSG00000182621ENST00000338037p.Q162Kc.484C>ASubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.L4609Vc.13825C>GSubstitution - Missense
SNX8ENSG00000106266ENST00000222990p.E40_I44delEPQAIc.119_133del15Deletion - In frame
SYNJ2ENSG00000078269ENST00000355585p.D802Nc.2404G>ASubstitution - Missense
C5orf22ENSG00000082213ENST00000325366p.L57Lc.171C>TSubstitution - coding silent
FLT4ENSG00000037280ENST00000393347p.Q479Hc.1437G>CSubstitution - Missense
GCM2ENSG00000124827ENST00000379491p.V495Ac.1484T>CSubstitution - Missense
OR2A12ENSG00000221858ENST00000408949p.L102fs*11c.300delTDeletion - Frameshift
SULT6B1ENSG00000138068ENST00000260637p.I235Tc.704T>CSubstitution - Missense
PRPS1L1ENSG00000229937ENST00000506618p.L185Lc.555G>ASubstitution - coding silent
PLIN4ENSG00000167676ENST00000301286p.T652Tc.1956C>TSubstitution - coding silent
PARP8ENSG00000151883ENST00000281631p.R287Rc.861C>ASubstitution - coding silent
NR6A1ENSG00000148200ENST00000487099p.?c.596+1_596+2ins49Unknown
CDK17ENSG00000059758ENST00000543119p.L492Fc.1476G>CSubstitution - Missense
CPED1ENSG00000106034ENST00000450913p.E381Kc.1141G>ASubstitution - Missense
RXFP4ENSG00000173080ENST00000368318p.S136Sc.408C>TSubstitution - coding silent
PTGFRENSG00000122420ENST00000370758p.I222Vc.664A>GSubstitution - Missense
EP400ENSG00000183495ENST00000389561p.P2125Pc.6375A>TSubstitution - coding silent
BLMENSG00000197299ENST00000355112p.S28Lc.83C>TSubstitution - Missense
SPAG17ENSG00000155761ENST00000336338p.R360Mc.1079G>TSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.T5406Tc.16218A>CSubstitution - coding silent
ANKRD26ENSG00000107890ENST00000376087p.E533Qc.1597G>CSubstitution - Missense
ATP2B4ENSG00000058668ENST00000367218p.K608Ec.1822A>GSubstitution - Missense
MYO5AENSG00000197535ENST00000399231p.E1089Ec.3267A>GSubstitution - coding silent
DNAJC6ENSG00000116675ENST00000395325p.S123Sc.369C>TSubstitution - coding silent
NEGR1ENSG00000172260ENST00000357731p.W71Cc.213G>TSubstitution - Missense
RPS6KA1ENSG00000117676ENST00000531382p.T56Tc.168G>ASubstitution - coding silent
SLC13A1ENSG00000081800ENST00000194130p.N207Dc.619A>GSubstitution - Missense
NEFHENSG00000100285ENST00000310624p.K749Kc.2247G>ASubstitution - coding silent
MYH4ENSG00000264424ENST00000255381p.E283Kc.847G>ASubstitution - Missense
SEC24BENSG00000138802ENST00000399100p.I291Vc.871A>GSubstitution - Missense
TBC1D8ENSG00000204634ENST00000376840p.H582Yc.1744C>TSubstitution - Missense
NPHP3ENSG00000113971ENST00000337331p.D451Dc.1353C>TSubstitution - coding silent
MVPENSG00000013364ENST00000395353p.E194Dc.582A>CSubstitution - Missense
MVPENSG00000013364ENST00000395353p.E195*c.583G>TSubstitution - Nonsense
SHROOM2ENSG00000146950ENST00000380913p.P745Lc.2234C>TSubstitution - Missense
ENST00000378305p.G44Gc.132T>CSubstitution - coding silent
IRF1ENSG00000125347ENST00000245414p.K275Kc.825G>ASubstitution - coding silent
NEU1ENSG00000204386ENST00000375631p.F350Fc.1050C>TSubstitution - coding silent
HBQ1ENSG00000086506ENST00000199708p.?c.301-4G>AUnknown
NEBENSG00000183091ENST00000427231p.V7385Fc.22153G>TSubstitution - Missense
CACNB2ENSG00000165995ENST00000377319p.E430Qc.1288G>CSubstitution - Missense
ZNF567ENSG00000189042ENST00000536254p.H184Yc.550C>TSubstitution - Missense
ZNF407ENSG00000215421ENST00000577538p.E574Kc.1720G>ASubstitution - Missense
PTX3ENSG00000163661ENST00000295927p.R188Cc.562C>TSubstitution - Missense
GALNT9ENSG00000182870ENST00000328957p.F578Sc.1733T>CSubstitution - Missense
CDK17ENSG00000059758ENST00000261211p.L492Fc.1476G>CSubstitution - Missense
ENST00000415091p.L52Rc.155T>GSubstitution - Missense
ENST00000291374p.L52Rc.155T>GSubstitution - Missense
C1QTNF8ENSG00000184471ENST00000328449p.A216Pc.646G>CSubstitution - Missense
ENST00000280576p.L2072Lc.6214C>TSubstitution - coding silent
PSPC1ENSG00000121390ENST00000338910p.L89Lc.265C>TSubstitution - coding silent
LTKENSG00000062524ENST00000355166p.L754Lc.2260C>TSubstitution - coding silent
PCSK9ENSG00000169174ENST00000302118p.I424Vc.1270A>GSubstitution - Missense
CLEC14AENSG00000176435ENST00000342213p.T275Mc.824C>TSubstitution - Missense
NM_152423.2p.M304Kc.911T>ASubstitution - Missense
DOCK6ENSG00000130158ENST00000319867p.Q142Qc.426G>ASubstitution - coding silent
CYP3A5ENSG00000106258ENST00000222982p.?c.1414-7A>GUnknown
PARD3BENSG00000116117ENST00000358768p.R357Rc.1071G>ASubstitution - coding silent
NM_003319p.T13929Ic.41786C>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.I25537Tc.76610T>CSubstitution - Missense
LTBP1ENSG00000049323ENST00000407925p.?c.3293-4G>AUnknown
PLCB1ENSG00000182621ENST00000378641p.L161Lc.483G>CSubstitution - coding silent
PRR25ENSG00000167945ENST00000301698p.S320Pc.958T>CSubstitution - Missense
NM_003319p.I22938Tc.68813T>CSubstitution - Missense
ABLIM2ENSG00000163995ENST00000447017p.R507Rc.1521G>ASubstitution - coding silent
DOK1ENSG00000115325ENST00000233668p.D471Ac.1412A>CSubstitution - Missense
C9orf173ENSG00000197768ENST00000388931p.H358fs*>20c.1069_1097del29Deletion - Frameshift
GPR156ENSG00000175697ENST00000315843p.P351Pc.1053G>ASubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.F347Fc.1041C>TSubstitution - coding silent
WDR62ENSG00000075702ENST00000270301p.L1427Fc.4279C>TSubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.R870Hc.2609G>ASubstitution - Missense
ENST00000262969p.L613Lc.1839G>TSubstitution - coding silent
CCNJLENSG00000135083ENST00000393977p.?c.888-10C>TUnknown
DPP6ENSG00000130226ENST00000406326p.Q317_H318delQHc.949_954delCAGCACDeletion - In frame
KIAA1731ENSG00000166004ENST00000411936p.S1560Yc.4679C>ASubstitution - Missense
DGKHENSG00000102780ENST00000337343p.N338Sc.1013A>GSubstitution - Missense
RLBP1ENSG00000140522ENST00000268125p.R64Qc.191G>ASubstitution - Missense
SLC29A2ENSG00000174669ENST00000357440p.Y159Dc.475T>GSubstitution - Missense
SZT2ENSG00000198198ENST00000372442p.R952Qc.2855G>ASubstitution - Missense
HEATR4ENSG00000187105ENST00000334988p.K13Kc.39G>ASubstitution - coding silent
CACNB2ENSG00000165995ENST00000377329p.E469Qc.1405G>CSubstitution - Missense
SPRR3ENSG00000163209ENST00000295367p.T67Ac.199A>GSubstitution - Missense
CPDENSG00000108582ENST00000225719p.Y662Hc.1984T>CSubstitution - Missense
ZNF721ENSG00000182903ENST00000511833p.Y435fs*2c.1303_2225del923Deletion - Frameshift
PFASENSG00000178921ENST00000314666p.R572Qc.1715G>ASubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.P635Pc.1905C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.L4538Vc.13612C>GSubstitution - Missense
NM_001198.2p.Q598Rc.1793A>GSubstitution - Missense
NAP1L3ENSG00000186310ENST00000373079p.E447Ec.1341G>ASubstitution - coding silent
EIF2AK2ENSG00000055332ENST00000233057p.T90Ac.268A>GSubstitution - Missense
TRPM6ENSG00000119121ENST00000360774p.K360Kc.1080A>GSubstitution - coding silent
ABCB8ENSG00000197150ENST00000358849p.V513Mc.1537G>ASubstitution - Missense
ZRANB3ENSG00000121988ENST00000536680p.G370Rc.1108G>ASubstitution - Missense
DUSP22ENSG00000112679ENST00000344450p.V106Ic.316G>ASubstitution - Missense
FLT1ENSG00000102755ENST00000282397p.H884Hc.2652C>TSubstitution - coding silent
ARID5BENSG00000150347ENST00000279873p.V981Vc.2943G>CSubstitution - coding silent
GNB1ENSG00000078369ENST00000378609p.L336Lc.1008C>GSubstitution - coding silent
KIAA1731ENSG00000166004ENST00000325212p.S1560Yc.4679C>ASubstitution - Missense
ENST00000331986p.S6411Sc.19233G>ASubstitution - coding silent
ZNF878ENSG00000257446ENST00000547628p.N380Sc.1139A>GSubstitution - Missense
ZNF721ENSG00000182903ENST00000338977p.Y513fs*2c.1534_1535insAInsertion - Frameshift
ENST00000356127p.T20424Ic.61271C>TSubstitution - Missense
TSSC1ENSG00000032389ENST00000382125p.E111Kc.331G>ASubstitution - Missense
ZNF776ENSG00000152443ENST00000317178p.R7Mc.20G>TSubstitution - Missense
FAM65AENSG00000039523ENST00000379312p.A446Tc.1336G>ASubstitution - Missense
SIENSG00000090402ENST00000264382p.?c.5248-8A>GUnknown
MAMDC4ENSG00000177943ENST00000317446p.A93Tc.277G>ASubstitution - Missense
SLC13A3ENSG00000158296ENST00000279027p.P512Lc.1535C>TSubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.G967Sc.2899G>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.V7385Fc.22153G>TSubstitution - Missense
RXFP1ENSG00000171509ENST00000307765p.E656Ac.1967A>CSubstitution - Missense
SLC8A1ENSG00000183023ENST00000406785p.?c.1930+5G>AUnknown
SULT6B1ENSG00000138068ENST00000535679p.I273Tc.818T>CSubstitution - Missense
ENST00000405167p.P1074Sc.3220C>TSubstitution - Missense
AMNENSG00000166126ENST00000299155p.S107Sc.321T>CSubstitution - coding silent
PANX1ENSG00000110218ENST00000227638p.I252Tc.755T>CSubstitution - Missense
YBX1ENSG00000065978ENST00000321358p.P250Lc.749C>TSubstitution - Missense
UCHL5ENSG00000116750ENST00000367455p.T76Tc.228G>CSubstitution - coding silent
IQCHENSG00000103599ENST00000335894p.K545Rc.1634A>GSubstitution - Missense
LTKENSG00000062524ENST00000263800p.L815Lc.2443C>TSubstitution - coding silent
NARFLENSG00000103245ENST00000251588p.?c.1035-8C>TUnknown
ASB15ENSG00000146809ENST00000451558p.R528Hc.1583G>ASubstitution - Missense
CLEC11AENSG00000105472ENST00000250340p.W5Lc.14G>TSubstitution - Missense
ACTG1ENSG00000184009ENST00000331925p.L105Lc.315G>ASubstitution - coding silent
ARPC1BENSG00000130429ENST00000252725p.G203Gc.609C>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.I23063Tc.69188T>CSubstitution - Missense
PLCB1ENSG00000182621ENST00000338037p.L161Lc.483G>CSubstitution - coding silent
ENSG00000268427ENST00000595015p.G36Sc.106G>ASubstitution - Missense
COBLL1ENSG00000082438ENST00000194871p.I525Tc.1574T>CSubstitution - Missense
ENST00000405167p.H3197Qc.9591C>GSubstitution - Missense
FAM86B1ENSG00000186523ENST00000321602p.H277Yc.829C>TSubstitution - Missense
SPOCK3ENSG00000196104ENST00000357154p.S176*c.527C>GSubstitution - Nonsense
VPS8ENSG00000156931ENST00000287546p.R1092fs*9c.3273delGDeletion - Frameshift
OBSL1ENSG00000124006ENST00000373873p.E937delEc.2810_2812delAGGDeletion - In frame
GDI2ENSG00000057608ENST00000380132p.I325Vc.973A>GSubstitution - Missense
ABLIM2ENSG00000163995ENST00000361737p.R432Rc.1296G>ASubstitution - coding silent
UCHL5ENSG00000116750ENST00000367449p.T76Tc.228G>CSubstitution - coding silent
SYNE1ENSG00000131018ENST00000341594p.L4356Vc.13066C>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.Q5341Qc.16023G>ASubstitution - coding silent
DHX16ENSG00000204560ENST00000376437p.R332Qc.995G>ASubstitution - Missense
DOCK4ENSG00000128512ENST00000494651p.S663Tc.1987T>ASubstitution - Missense
ABCB8ENSG00000197150ENST00000542328p.V425Mc.1273G>ASubstitution - Missense
CYP3A5ENSG00000106258ENST00000343703p.?c.1384-7A>GUnknown
ENST00000425592p.V10Vc.30C>TSubstitution - coding silent
ENST00000425592_v68p.V10Vc.30C>TSubstitution - coding silent
INVSENSG00000119509ENST00000541287p.V646Vc.1938G>ASubstitution - coding silent
WDR66ENSG00000158023ENST00000288912p.K1038Nc.3114G>CSubstitution - Missense
ENST00000328974p.N184Nc.552C>TSubstitution - coding silent
PDE3AENSG00000172572ENST00000359062p.V345Lc.1033G>CSubstitution - Missense
MARSENSG00000166986ENST00000315473p.P566Tc.1696C>ASubstitution - Missense
PRICKLE1ENSG00000139174ENST00000345127p.R534Pc.1601G>CSubstitution - Missense
TMEM132AENSG00000006118ENST00000005286p.A378Tc.1132G>ASubstitution - Missense
SORCS1ENSG00000108018ENST00000263054p.E122Dc.366G>TSubstitution - Missense
IGSF3ENSG00000143061ENST00000369483p.R922Hc.2765G>ASubstitution - Missense
KIAA2013ENSG00000116685ENST00000376576p.A575Ac.1725C>TSubstitution - coding silent
CACNA1HENSG00000196557ENST00000358590p.R705Lc.2114G>TSubstitution - Missense
CERS3ENSG00000154227ENST00000284382p.V41Mc.121G>ASubstitution - Missense
SLC28A2ENSG00000137860ENST00000347644p.?c.589-10T>AUnknown
ATP2B4ENSG00000058668ENST00000357681p.K608Ec.1822A>GSubstitution - Missense
SLC44A3ENSG00000143036ENST00000271227p.Y433Cc.1298A>GSubstitution - Missense
CRHR1ENSG00000120088ENST00000314537p.A194Sc.580G>TSubstitution - Missense
CDH13ENSG00000140945ENST00000431540p.P134Pc.402A>TSubstitution - coding silent
PSMF1ENSG00000125818ENST00000335877p.P263Ac.787C>GSubstitution - Missense
ST6GALNAC5ENSG00000117069ENST00000477717p.F202Fc.606C>TSubstitution - coding silent
QRICH2ENSG00000129646ENST00000262765p.P848Ac.2542C>GSubstitution - Missense
RBMXL3ENSG00000175718ENST00000424776p.G587Rc.1759G>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S10404Rc.31212C>ASubstitution - Missense
SCINENSG00000006747ENST00000297029p.F513Vc.1537T>GSubstitution - Missense
ZNF721ENSG00000182903ENST00000338977p.Y513fs*2c.1536_1537insAInsertion - Frameshift
CECR2ENSG00000099954ENST00000400585p.R1019Tc.3056G>CSubstitution - Missense
ZNF600ENSG00000189190ENST00000360272p.M157Kc.470T>ASubstitution - Missense
TMEM248ENSG00000106609ENST00000341567p.L141Lc.423A>GSubstitution - coding silent
PLCD4ENSG00000115556ENST00000450993p.I249Tc.746T>CSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.T724Tc.2172C>TSubstitution - coding silent
PPIL2ENSG00000100023ENST00000335025p.I266Ic.798C>TSubstitution - coding silent
ENST00000266544_v70p.?c.897-8C>GUnknown
PLIN4ENSG00000167676ENST00000301286p.T718Tc.2154C>TSubstitution - coding silent
DNAH17ENSG00000187775ENST00000389840p.K3271Ec.9811A>GSubstitution - Missense
PLCB1ENSG00000182621ENST00000404098p.L160Lc.480G>CSubstitution - coding silent
COMMD4ENSG00000140365ENST00000267935p.?c.181+8T>CUnknown
FOXJ2ENSG00000065970ENST00000162391p.?c.817+5G>TUnknown
OR10A4ENSG00000170782ENST00000379829p.F165Fc.495C>TSubstitution - coding silent
EFSENSG00000100842ENST00000216733p.E250Kc.748G>ASubstitution - Missense
NDUFA9ENSG00000139180ENST00000266544p.?c.897-8C>GUnknown
SAA2ENSG00000134339ENST00000256733p.?c.92-9C>GUnknown
THNSL1ENSG00000185875ENST00000376356p.V330Vc.990C>TSubstitution - coding silent
AQRENSG00000021776ENST00000156471p.H842Hc.2526C>TSubstitution - coding silent
PTGDRENSG00000168229ENST00000306051p.S50Sc.150G>TSubstitution - coding silent
ENST00000234668p.N530Tc.1589A>CSubstitution - Missense
SLC26A11ENSG00000181045ENST00000361193p.L126Lc.376C>TSubstitution - coding silent
PER2ENSG00000132326ENST00000254657p.V368Mc.1102G>ASubstitution - Missense
AFF2ENSG00000155966ENST00000370460p.R870Hc.2609G>ASubstitution - Missense
LARP1ENSG00000155506ENST00000336314p.W3fs*1c.8delGDeletion - Frameshift
OR10C1ENSG00000206474ENST00000444197p.Y265Yc.795C>TSubstitution - coding silent
ENST00000539307p.S177Ac.529T>GSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Ac.418T>GSubstitution - Missense
DOCK4ENSG00000128512ENST00000437633p.S1780Tc.5338T>ASubstitution - Missense
MYO1GENSG00000136286ENST00000258787p.M259Lc.775A>TSubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.P109fs*29c.324_325insTInsertion - Frameshift
SNTB2ENSG00000168807ENST00000336278p.A439Ac.1317T>CSubstitution - coding silent
CDR2ENSG00000140743ENST00000268383p.N77Nc.231C>TSubstitution - coding silent
PDZD9ENSG00000155714ENST00000286143p.D180Hc.538G>CSubstitution - Missense
GGA2ENSG00000103365ENST00000309859p.D170Nc.508G>ASubstitution - Missense
RLN3ENSG00000171136ENST00000431365p.K95Kc.285G>ASubstitution - coding silent
UBXN6ENSG00000167671ENST00000301281p.?c.1201-5C>TUnknown
PPP1R16BENSG00000101445ENST00000299824p.L121Lc.363C>GSubstitution - coding silent
SPEF1ENSG00000101222ENST00000379756p.A175Vc.524C>TSubstitution - Missense
SULF2ENSG00000196562ENST00000359930p.L522Pc.1565T>CSubstitution - Missense
NEBENSG00000183091ENST00000409198p.V5684Fc.17050G>TSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.G967Sc.2899G>ASubstitution - Missense
PRPS1L1ENSG00000229937ENST00000506618p.L185Lc.555G>ASubstitution - coding silent
HIC2ENSG00000169635ENST00000407464p.R335Wc.1003C>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.E753Dc.2259G>CSubstitution - Missense
COBLL1ENSG00000082438ENST00000342193p.I459Tc.1376T>CSubstitution - Missense
LRP2ENSG00000081479ENST00000263816p.E2674Kc.8020G>ASubstitution - Missense
DLC1ENSG00000164741ENST00000511869p.R351Wc.1051C>TSubstitution - Missense
TMEM41AENSG00000163900ENST00000421852p.L238Lc.714C>TSubstitution - coding silent
VPS8ENSG00000156931ENST00000437079p.R1092fs*9c.3273delGDeletion - Frameshift
SPOCK3ENSG00000196104ENST00000357545p.S173*c.518C>GSubstitution - Nonsense
GPSM3ENSG00000213654ENST00000375040p.G144Dc.431G>ASubstitution - Missense
ARID5BENSG00000150347ENST00000309334p.V738Vc.2214G>CSubstitution - coding silent
PRKG1ENSG00000185532ENST00000373976p.P147Lc.440C>TSubstitution - Missense
TIE1ENSG00000066056ENST00000538015p.S85Lc.254C>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.?c.560-1G>AUnknown
ARID5BENSG00000150347ENST00000309334p.Q703Hc.2109G>CSubstitution - Missense
CACNB2ENSG00000165995ENST00000377315p.E475Qc.1423G>CSubstitution - Missense
SMTNL1ENSG00000214872ENST00000457912p.V502Vc.1506G>ASubstitution - coding silent
ENST00000457912_v65p.V502Vc.1506G>ASubstitution - coding silent
EP400ENSG00000183495ENST00000333577p.P2161Pc.6483A>TSubstitution - coding silent
CAMKK2ENSG00000110931ENST00000392474p.R508Cc.1522C>TSubstitution - Missense
ENST00000545759p.I144Ic.432C>TSubstitution - coding silent
GIT2ENSG00000139436ENST00000343646p.M459Ic.1377G>TSubstitution - Missense
FOXJ2ENSG00000065970ENST00000428177p.?c.817+5G>TUnknown
DGKHENSG00000102780ENST00000379274p.N202Sc.605A>GSubstitution - Missense
VHLLENSG00000189030ENST00000339922p.I91Ic.273C>TSubstitution - coding silent
ADARENSG00000160710ENST00000292205p.C1124Sc.3371G>CSubstitution - Missense
ATAD3AENSG00000197785ENST00000339113p.?c.1571-6C>GUnknown
UCHL5ENSG00000116750ENST00000367448p.T76Tc.228G>CSubstitution - coding silent
UCHL5ENSG00000116750ENST00000421683p.T67Tc.201G>CSubstitution - coding silent
TMEM52ENSG00000178821ENST00000378602p.H97Yc.289C>TSubstitution - Missense
ATP13A2ENSG00000159363ENST00000341676p.P788Pc.2364G>ASubstitution - coding silent
USH2AENSG00000042781ENST00000366943p.R1946Pc.5837G>CSubstitution - Missense
SRSF10ENSG00000188529ENST00000374452p.?c.491+9C>TUnknown
ERI3ENSG00000117419ENST00000372259p.L56Lc.168A>GSubstitution - coding silent
RTL1ENSG00000254656ENST00000534062p.C903Cc.2709C>TSubstitution - coding silent
NEXNENSG00000162614ENST00000457030p.K250Qc.748A>CSubstitution - Missense
DNAJC6ENSG00000116675ENST00000371069p.S180Sc.540C>TSubstitution - coding silent
MYO5AENSG00000197535ENST00000358212p.E1089Ec.3267A>GSubstitution - coding silent
CACNA1HENSG00000196557ENST00000348261p.R705Lc.2114G>TSubstitution - Missense
RNF157ENSG00000141576ENST00000269391p.V244Ic.730G>ASubstitution - Missense
ZSCAN30ENSG00000186814ENST00000333206p.N444Sc.1331A>GSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.T790Tc.2370C>TSubstitution - coding silent
VAV1ENSG00000141968ENST00000602142p.V713Ic.2137G>ASubstitution - Missense
PCK1ENSG00000124253ENST00000535860p.G202Cc.604G>TSubstitution - Missense
PLCB1ENSG00000182621ENST00000404098p.Q161Kc.481C>ASubstitution - Missense
RAI2ENSG00000131831ENST00000331511p.E163Kc.487G>ASubstitution - Missense
CKAP2LENSG00000169607ENST00000302450p.Q47Hc.141A>CSubstitution - Missense
SAP130ENSG00000136715ENST00000357702p.R1060Cc.3178C>TSubstitution - Missense
SAP130ENSG00000136715ENST00000259235p.R1025Cc.3073C>TSubstitution - Missense
PDIA5ENSG00000065485ENST00000316218p.A423Tc.1267G>ASubstitution - Missense
NAGAENSG00000198951ENST00000396398p.S227Sc.681C>TSubstitution - coding silent
XM_371474.2p.A1857Ac.5571C>TSubstitution - coding silent
BRD1ENSG00000100425ENST00000216267p.S113Lc.338C>TSubstitution - Missense
IQGAP2ENSG00000145703ENST00000274364p.N693Yc.2077A>TSubstitution - Missense
COL4A3BPENSG00000113163ENST00000380494p.L158Lc.474C>TSubstitution - coding silent
BRPF3ENSG00000096070ENST00000357641p.L1121Lc.3363G>ASubstitution - coding silent
MAPK14ENSG00000112062ENST00000229794p.?c.610+10G>AUnknown
AGFG2ENSG00000106351ENST00000300176p.Q286Lc.857A>TSubstitution - Missense
HMGN5ENSG00000198157ENST00000358130p.?c.16-10C>TUnknown
PPP1R15AENSG00000087074ENST00000200453p.W33*c.98G>ASubstitution - Nonsense
BAXENSG00000087088ENST00000293288p.P88Sc.262C>TSubstitution - Missense
PKMYT1ENSG00000127564ENST00000262300p.L185Lc.553C>TSubstitution - coding silent
C16orf93ENSG00000196118ENST00000543610p.Q294Ec.880C>GSubstitution - Missense
ENST00000354963p.Q257Ec.769C>GSubstitution - Missense
ZRANB3ENSG00000121988ENST00000264159p.G370Rc.1108G>ASubstitution - Missense
PLA1AENSG00000144837ENST00000273371p.I366Ic.1098C>ASubstitution - coding silent
KYENSG00000174611ENST00000423778p.R55Qc.164G>ASubstitution - Missense
KYENSG00000174611ENST00000423778p.R55Qc.164G>ASubstitution - Missense
WDR5BENSG00000196981ENST00000330689p.Y80fs*3c.237_238delCTDeletion - Frameshift
GRK7ENSG00000114124ENST00000264952p.?c.1051-10G>TUnknown
NMNAT3ENSG00000163864ENST00000339837p.R32Qc.95G>ASubstitution - Missense
CNTN6ENSG00000134115ENST00000446702p.R471Tc.1412G>CSubstitution - Missense
DCHS2ENSG00000197410ENST00000339452p.P182Sc.544C>TSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.F347Fc.1041C>TSubstitution - coding silent
ENST00000447812p.G65_G89>Ec.186_266>AGAGGAAGAComplex - deletion inframe
POF1BENSG00000124429ENST00000262753p.E250*c.748G>TSubstitution - Nonsense
ZNF407ENSG00000215421ENST00000582337p.E574Kc.1720G>ASubstitution - Missense
ZNF407ENSG00000215421ENST00000299687p.E574Kc.1720G>ASubstitution - Missense
ATP9BENSG00000166377ENST00000307671p.A383Ac.1149G>ASubstitution - coding silent
PRDM1ENSG00000057657ENST00000369096p.Q634Rc.1901A>GSubstitution - Missense
GCNT2ENSG00000111846ENST00000379597p.G192Rc.574G>ASubstitution - Missense
RPF2ENSG00000197498ENST00000368864p.L150Lc.450G>ASubstitution - coding silent
EXOC2ENSG00000112685ENST00000230449p.?c.537-6T>CUnknown
GRIN3AENSG00000198785ENST00000361820p.T921Mc.2762C>TSubstitution - Missense
INVSENSG00000119509ENST00000262457p.V742Vc.2226G>ASubstitution - coding silent
RSPO3ENSG00000146374ENST00000356698p.R211*c.631C>TSubstitution - Nonsense
RSPO3ENSG00000146374ENST00000368317p.R211*c.631C>TSubstitution - Nonsense
SLC8A1ENSG00000183023ENST00000403092p.?c.1954+5G>AUnknown
COX6B1ENSG00000126267ENST00000246554p.C40Yc.119G>ASubstitution - Missense
COX6B1ENSG00000126267ENST00000392201p.C57Yc.170G>ASubstitution - Missense
DMKNENSG00000161249ENST00000339686p.S296_R297insSGNSGGSc.873_874ins21Insertion - In frame
DMKNENSG00000161249ENST00000424570p.S296_R297insSGNSGGSc.873_874ins21Insertion - In frame
WDR87ENSG00000171804ENST00000447313p.R958Cc.2872C>TSubstitution - Missense
ZFR2ENSG00000105278ENST00000262961p.A442Tc.1324G>ASubstitution - Missense
ZNF567ENSG00000189042ENST00000360729p.H153Yc.457C>TSubstitution - Missense
SKILENSG00000136603ENST00000259119p.S195*c.584C>GSubstitution - Nonsense
CCDC39ENSG00000145075ENST00000442201p.M368Vc.1102A>GSubstitution - Missense
CCDC39ENSG00000145075ENST00000273654p.M452Vc.1354A>GSubstitution - Missense
CCDC39ENSG00000145075ENST00000442201p.R103Wc.307C>TSubstitution - Missense
CCDC39ENSG00000145075ENST00000273654p.R187Wc.559C>TSubstitution - Missense
C9orf116ENSG00000160345ENST00000429260p.D33Gc.98A>GSubstitution - Missense
C9orf116ENSG00000160345ENST00000371791p.D33Gc.98A>GSubstitution - Missense
TRPM6ENSG00000119121ENST00000451710p.K360Kc.1080A>GSubstitution - coding silent
ENST00000346816p.D280Yc.838G>TSubstitution - Missense
C9orf170ENSG00000204446ENST00000375941p.?c.168+10A>GUnknown
PDE1CENSG00000154678ENST00000396191p.K63Nc.189G>CSubstitution - Missense
ANKRD24ENSG00000089847ENST00000318934p.L1048Lc.3144G>TSubstitution - coding silent
CYP2B6ENSG00000197408ENST00000324071p.E93Kc.277G>ASubstitution - Missense
AFF2ENSG00000155966ENST00000286437p.R511Hc.1532G>ASubstitution - Missense
AQP12BENSG00000185176ENST00000407834p.G61Rc.181G>CSubstitution - Missense
MAPRE3ENSG00000084764ENST00000233121p.E280Vc.839A>TSubstitution - Missense
TOMM70AENSG00000154174ENST00000284320p.H105Pc.314A>CSubstitution - Missense
SRLENSG00000185739ENST00000399609p.T131Tc.393C>ASubstitution - coding silent
SLX4ENSG00000188827ENST00000294008p.A1726Ac.5178G>ASubstitution - coding silent
ZSCAN32ENSG00000140987ENST00000396852p.V112Ic.334G>ASubstitution - Missense
ZFPM1ENSG00000179588ENST00000319555p.E284Ec.852G>ASubstitution - coding silent
DNAJA2ENSG00000069345ENST00000317089p.E372Ec.1116G>ASubstitution - coding silent
CPNE7ENSG00000178773ENST00000268720p.S162Fc.485C>TSubstitution - Missense
ZNF28ENSG00000198538ENST00000438150p.M157Kc.470T>ASubstitution - Missense
TMEM220ENSG00000187824ENST00000341871p.L133Ic.397C>ASubstitution - Missense
PRKCGENSG00000126583ENST00000540413p.E237Ec.711G>ASubstitution - coding silent
FERMT1ENSG00000101311ENST00000217289p.E162*c.484G>TSubstitution - Nonsense
PLCB1ENSG00000182621ENST00000378641p.Q162Kc.484C>ASubstitution - Missense
RTEL1ENSG00000258366ENST00000318100p.?c.1135+1G>AUnknown
RTEL1ENSG00000258366ENST00000508582p.?c.1207+1G>AUnknown
ARFGAP1ENSG00000101199ENST00000353546p.S280Nc.839G>ASubstitution - Missense
ARFGAP1ENSG00000101199ENST00000370275p.S270Nc.809G>ASubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.R2409Rc.7227C>TSubstitution - coding silent
LAMP5ENSG00000125869ENST00000246070p.V108Vc.324G>TSubstitution - coding silent
SEC14L2ENSG00000100003ENST00000312932p.R20Qc.59G>ASubstitution - Missense
NEFHENSG00000100285ENST00000310624p.S752Tc.2254T>ASubstitution - Missense
PISDENSG00000241878ENST00000382151p.V115Vc.345G>ASubstitution - coding silent
PISDENSG00000241878ENST00000439502p.V149Vc.447G>ASubstitution - coding silent
PRR14LENSG00000183530ENST00000327423p.L1660Lc.4978C>TSubstitution - coding silent
PRR14LENSG00000183530ENST00000397493p.L1660Lc.4978C>TSubstitution - coding silent
CAPN13ENSG00000162949ENST00000295055p.G624Dc.1871G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A3065Pc.9193G>CSubstitution - Missense
ENST00000405167p.A3065Pc.9193G>CSubstitution - Missense
SENP5ENSG00000119231ENST00000323460p.C199Sc.596G>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P1042Sc.3124C>TSubstitution - Missense
ENST00000405167p.P1042Sc.3124C>TSubstitution - Missense
TRMT44ENSG00000155275ENST00000389737p.?c.1024-10C>GUnknown
TRMT44ENSG00000155275ENST00000513449p.?c.301-10C>GUnknown
CYBBENSG00000165168ENST00000378588p.T194Sc.580A>TSubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.P635Pc.1905C>TSubstitution - coding silent
FAM47AENSG00000185448ENST00000346193p.S624Yc.1871C>ASubstitution - Missense
NM_006904p.L660Lc.1980G>ASubstitution - coding silent
DUXAENSG00000258873ENST00000554048p.E171Ec.513A>GSubstitution - coding silent
ZSCAN1ENSG00000152467ENST00000282326p.P171Pc.513C>TSubstitution - coding silent
ENST00000316893p.V1950Mc.5848G>ASubstitution - Missense
DVL2ENSG00000004975ENST00000005340p.R37Rc.111C>TSubstitution - coding silent
KIAA0195ENSG00000177728ENST00000314256p.R92Hc.275G>ASubstitution - Missense
ZBTB47ENSG00000114853ENST00000232974p.A135Vc.404C>TSubstitution - Missense
ULK4ENSG00000168038ENST00000301831p.N685Kc.2055T>ASubstitution - Missense
SLC12A7ENSG00000113504ENST00000264930p.A673Tc.2017G>ASubstitution - Missense
GIN1ENSG00000145723ENST00000399004p.S290Nc.869G>ASubstitution - Missense
FAM65AENSG00000039523ENST00000042381p.A442Tc.1324G>ASubstitution - Missense
ANKUB1ENSG00000206199ENST00000446160p.D64Nc.190G>ASubstitution - Missense
IFT80ENSG00000068885ENST00000326448p.K135Nc.405G>CSubstitution - Missense
FLT4ENSG00000037280ENST00000261937p.Q479Hc.1437G>CSubstitution - Missense
ENST00000376868p.Q289Hc.867G>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.L4609Vc.13825C>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.Q5729Qc.17187G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.Q5729Qc.17187G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.Q5658Qc.16974G>ASubstitution - coding silent
GINM1ENSG00000055211ENST00000367419p.?c.880_881+2delAAgtUnknown
ENST00000367213p.R196Qc.587G>ASubstitution - Missense
HOXA3ENSG00000105997ENST00000396352p.P301Lc.902C>TSubstitution - Missense
KIAA1324LENSG00000164659ENST00000297222p.?c.1011+8C>TUnknown
ICA1ENSG00000003147ENST00000402384p.Q443Qc.1329A>GSubstitution - coding silent
HEATR2ENSG00000164818ENST00000297440p.T578Sc.1732A>TSubstitution - Missense
GLCCI1ENSG00000106415ENST00000223145p.A235Gc.704C>GSubstitution - Missense
DBF4ENSG00000006634ENST00000265728p.Q266Ec.796C>GSubstitution - Missense
ENST00000331986p.S6552Fc.19655C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S10778Sc.32334G>ASubstitution - coding silent
C9orf3ENSG00000148120ENST00000297979p.R691Tc.2072G>CSubstitution - Missense
MUM1L1ENSG00000157502ENST00000337685p.M304Kc.911T>ASubstitution - Missense
TEKT3ENSG00000125409ENST00000395930p.R419Cc.1255C>TSubstitution - Missense
SCARF1ENSG00000074660ENST00000263071p.A84Ac.252C>TSubstitution - coding silent
MGAT5BENSG00000167889ENST00000428789p.A411Ac.1233G>ASubstitution - coding silent
XM_290732.4p.V838Ic.2512G>ASubstitution - Missense
TEN1-CDK3ENSG00000261408ENST00000448471p.P284Pc.852G>ASubstitution - coding silent
ENST00000300671p.K3280Ec.9838A>GSubstitution - Missense
ZNF99ENSG00000213973ENST00000397104p.M86Tc.257T>CSubstitution - Missense
GNA15ENSG00000060558ENST00000262958p.H111Lc.332A>TSubstitution - Missense
ADNPENSG00000101126ENST00000349014p.P131Pc.393G>ASubstitution - coding silent
SSMEM1ENSG00000165120ENST00000297819p.T148Mc.443C>TSubstitution - Missense
FLNCENSG00000128591ENST00000325888p.T1300fs*2c.3898_3907del10Deletion - Frameshift
ENST00000399933_v61p.T1259Ic.3776C>TSubstitution - Missense
KIAA2026ENSG00000183354ENST00000399933p.T434Ic.1301C>TSubstitution - Missense
ADAMTS9ENSG00000163638ENST00000498707p.V439Gc.1316T>GSubstitution - Missense
PTK2BENSG00000120899ENST00000397501p.K956Tc.2867A>CSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.E1792Qc.5374G>CSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.E1792Qc.5374G>CSubstitution - Missense
CORO6ENSG00000167549ENST00000388767p.H304Yc.910C>TSubstitution - Missense
RPTORENSG00000141564ENST00000306801p.V615Lc.1843G>CSubstitution - Missense
CNTROBENSG00000170037ENST00000380262p.E379Dc.1137G>TSubstitution - Missense
ENST00000411702p.?c.13222-4G>AUnknown
EMILIN2ENSG00000132205ENST00000254528p.L1010Lc.3030C>TSubstitution - coding silent
KRI1ENSG00000129347ENST00000312962p.S708fs*>4c.2122_2123insCCTTGInsertion - Frameshift
ZSCAN30ENSG00000186814ENST00000333206p.K439Kc.1317A>GSubstitution - coding silent
SBNO2ENSG00000064932ENST00000361757p.?c.441+3C>GUnknown
ENST00000250872p.V105Vc.315C>GSubstitution - coding silent
SBNO2ENSG00000064932ENST00000361757p.I135Mc.405C>GSubstitution - Missense
ENST00000250872p.I92Mc.276C>GSubstitution - Missense
ZNF878ENSG00000257446ENST00000602107p.N427Sc.1280A>GSubstitution - Missense
ZNF878ENSG00000257446ENST00000547628p.N380Sc.1139A>GSubstitution - Missense
TSPEARENSG00000175894ENST00000323084p.W589*c.1766G>ASubstitution - Nonsense
PDE9AENSG00000160191ENST00000291539p.P135Lc.404C>TSubstitution - Missense
COL18A1ENSG00000182871ENST00000359759p.V640Mc.1918G>ASubstitution - Missense
ADAM17ENSG00000151694ENST00000310823p.C611Cc.1833T>CSubstitution - coding silent
TMPRSS11DENSG00000153802ENST00000283916p.S304Cc.911C>GSubstitution - Missense
AFPENSG00000081051ENST00000395792p.R233Qc.698G>ASubstitution - Missense
NM_025134.3p.G567Sc.1699G>ASubstitution - Missense
NEUROD2ENSG00000171532ENST00000302584p.N138Nc.414C>TSubstitution - coding silent
TCAPENSG00000173991ENST00000309889p.R153Hc.458G>ASubstitution - Missense
KRTAP9-4ENSG00000241595ENST00000334109p.T109Tc.327A>GSubstitution - coding silent
KRTAP9-4ENSG00000241595ENST00000334109p.P128Pc.384C>GSubstitution - coding silent
KRT40ENSG00000204889ENST00000398486p.L292Pc.875T>CSubstitution - Missense
TTC3ENSG00000182670ENST00000354749p.?c.5705_5707-3del185Unknown
TTC3ENSG00000182670ENST00000354749p.?c.5943_5944-2del1115Unknown
ZNF721ENSG00000182903ENST00000511833p.Y743fs*2c.2226_2227insAInsertion - Frameshift
ZNF721ENSG00000182903ENST00000511833p.Y743fs*2c.2224_2225insAInsertion - Frameshift
ZNF721ENSG00000182903ENST00000338977p.Y205fs*2c.613_1535del923Deletion - Frameshift
GPLD1ENSG00000112293ENST00000230036p.L657Rc.1970T>GSubstitution - Missense
LRRD1ENSG00000240720ENST00000458448p.L538Lc.1614G>TSubstitution - coding silent
E2F5ENSG00000133740ENST00000416274p.R316Sc.948G>TSubstitution - Missense
SLC25A35ENSG00000125434ENST00000577745p.T257Ac.769A>GSubstitution - Missense
UBOX5ENSG00000185019ENST00000217173p.K18Rc.53A>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.I25604Tc.76811T>CSubstitution - Missense
NM_003319p.I25412Tc.76235T>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.I31909Tc.95726T>CSubstitution - Missense
ENST00000356127p.I31907Tc.95720T>CSubstitution - Missense
SMC6ENSG00000163029ENST00000448223p.D128Dc.384T>CSubstitution - coding silent
AGPSENSG00000018510ENST00000264167p.L245Lc.733C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.I29435Tc.88304T>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.T20426Ic.61277C>TSubstitution - Missense
MORN3ENSG00000139714ENST00000355329p.R203Hc.608G>ASubstitution - Missense
IGSF3ENSG00000143061ENST00000369486p.R902Hc.2705G>ASubstitution - Missense
VANGL1ENSG00000173218ENST00000355485p.N493Sc.1478A>GSubstitution - Missense
BNIPLENSG00000163141ENST00000368931p.G70Dc.209G>ASubstitution - Missense
CD247ENSG00000198821ENST00000362089p.G127Gc.381G>CSubstitution - coding silent
STARD9ENSG00000159433ENST00000290607p.R1155Rc.3465G>ASubstitution - coding silent
ENST00000300167p.R76Rc.228G>ASubstitution - coding silent
C1orf185ENSG00000204006ENST00000371759p.T122Tc.366C>GSubstitution - coding silent
LRR1ENSG00000165501ENST00000298288p.Q160Hc.480G>CSubstitution - Missense
ERO1LENSG00000197930ENST00000395686p.K419Nc.1257A>CSubstitution - Missense
ENST00000368724p.Y20Nc.58T>ASubstitution - Missense
ENST00000453814p.Y31Nc.91T>ASubstitution - Missense
SLC41A1ENSG00000133065ENST00000367137p.R54Wc.160C>TSubstitution - Missense
FAM214AENSG00000047346ENST00000261844p.H1038Yc.3112C>TSubstitution - Missense
EIF3FENSG00000175390ENST00000537635p.E196Dc.588G>TSubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.S1560Yc.4679C>ASubstitution - Missense
DNAH10ENSG00000197653ENST00000409039p.L3480Lc.10438C>TSubstitution - coding silent
HNRNPCL1ENSG00000179172ENST00000317869p.D118Ac.353A>CSubstitution - Missense
C1orf172ENSG00000175707ENST00000320567p.G300Gc.900C>TSubstitution - coding silent
RPS6KA1ENSG00000117676ENST00000374168p.T47Tc.141G>ASubstitution - coding silent
PGBD2ENSG00000185220ENST00000329291p.R118Cc.352C>TSubstitution - Missense
OR2T27ENSG00000187701ENST00000344889p.S64Gc.190A>GSubstitution - Missense
OR2T3ENSG00000196539ENST00000359594p.F182Vc.544T>GSubstitution - Missense
DNAJC8ENSG00000126698ENST00000263697p.E144*c.430G>TSubstitution - Nonsense
MIER1ENSG00000198160ENST00000371014p.L470_P471insLc.1404_1405insCTTInsertion - In frame
PGM1ENSG00000079739ENST00000371083p.G439Dc.1316G>ASubstitution - Missense
C1orf173ENSG00000178965ENST00000326665p.?c.244-6G>AUnknown
NEXNENSG00000162614ENST00000334785p.K264Qc.790A>CSubstitution - Missense
DNAJB4ENSG00000162616ENST00000370763p.A41Ac.123A>GSubstitution - coding silent
SYDE2ENSG00000097096ENST00000341460p.N608Tc.1823A>CSubstitution - Missense
SYNE2ENSG00000054654ENST00000358025p.A3084Ac.9252C>TSubstitution - coding silent
GPR135ENSG00000181619ENST00000395116p.V314Mc.940G>ASubstitution - Missense
PPP1R36ENSG00000165807ENST00000298705p.R136Rc.408G>CSubstitution - coding silent
ZBTB25ENSG00000089775ENST00000394715p.S342Cc.1025C>GSubstitution - Missense
PPP4R4ENSG00000119698ENST00000304338p.P165Lc.494C>TSubstitution - Missense
UNC79ENSG00000133958ENST00000256339p.C2309Cc.6927C>TSubstitution - coding silent
UNC79ENSG00000133958ENST00000553484p.C2508Cc.7524C>TSubstitution - coding silent
ITGA11ENSG00000137809ENST00000315757p.S987Gc.2959A>GSubstitution - Missense
CA6ENSG00000131686ENST00000377443p.T284Ac.850A>GSubstitution - Missense
AGRNENSG00000188157ENST00000379370p.P998Lc.2993C>TSubstitution - Missense
SLC44A3ENSG00000143036ENST00000467909p.Y385Cc.1154A>GSubstitution - Missense
C15orf57ENSG00000128891ENST00000358005p.D172Dc.516C>TSubstitution - coding silent
EIF2AK4ENSG00000128829ENST00000263791p.P957Pc.2871C>TSubstitution - coding silent
GPR176ENSG00000166073ENST00000561100p.L302Mc.904C>ASubstitution - Missense
LIFRENSG00000113594ENST00000263409p.S688Yc.2063C>ASubstitution - Missense
LIFRENSG00000113594ENST00000263409p.S688Yc.2063C>ASubstitution - Missense
CARD6ENSG00000132357ENST00000254691p.L699Vc.2095C>GSubstitution - Missense
NARFLENSG00000103245ENST00000251588p.S67Pc.199T>CSubstitution - Missense
NARFLENSG00000103245ENST00000251588p.?c.1035-9G>TUnknown
CNTNAP4ENSG00000152910ENST00000478060p.L392Fc.1176G>CSubstitution - Missense
CNTNAP4ENSG00000152910ENST00000307431p.L464Fc.1392G>CSubstitution - Missense
CHTF18ENSG00000127586ENST00000317063p.T962Mc.2885C>TSubstitution - Missense
PLCG2ENSG00000197943ENST00000359376p.V1158Vc.3474C>GSubstitution - coding silent
SDR42E1ENSG00000184860ENST00000328945p.G244Dc.731G>ASubstitution - Missense
ALOX15ENSG00000161905ENST00000570836p.F94Fc.282C>TSubstitution - coding silent
ENST00000305326p.Y19Hc.55T>CSubstitution - Missense
TTLL6ENSG00000170703ENST00000393382p.Y293Hc.877T>CSubstitution - Missense
ENST00000356127p.R5805Rc.17413A>CSubstitution - coding silent
CST11ENSG00000125831ENST00000377009p.L22Hc.65T>ASubstitution - Missense
ATICENSG00000138363ENST00000236959p.?c.814+5A>CUnknown
APOBENSG00000084674ENST00000233242p.S4244Fc.12731C>TSubstitution - Missense
TNS1ENSG00000079308ENST00000446903p.S570Rc.1708A>CSubstitution - Missense
ENST00000409172p.V218Mc.652G>ASubstitution - Missense
ENST00000331986p.S6037Rc.18111C>ASubstitution - Missense
METTL12ENSG00000214756ENST00000532971p.H139Hc.417C>TSubstitution - coding silent
SSH3ENSG00000172830ENST00000308127p.R297Cc.889C>TSubstitution - Missense
SYT12ENSG00000173227ENST00000393946p.S52Fc.155C>TSubstitution - Missense
ENSG00000256349ENST00000419755p.M240Vc.718A>GSubstitution - Missense
MYEOVENSG00000172927ENST00000308946p.C6Sc.17G>CSubstitution - Missense
M6PRENSG00000003056ENST00000000412p.V35Ac.104T>CSubstitution - Missense
KRTAP5-9ENSG00000254997ENST00000528743p.V39Vc.117C>GSubstitution - coding silent
SRSF10ENSG00000188529ENST00000492112p.?c.491+9C>TUnknown
CHMLENSG00000203668ENST00000366553p.L477Lc.1429C>TSubstitution - coding silent
NRAPENSG00000197893ENST00000359988p.V46Lc.136G>TSubstitution - Missense
C10orf76ENSG00000120029ENST00000370033p.?c.832-4A>GUnknown
PDZD7ENSG00000186862ENST00000370215p.K449delKc.1345_1347delAAGDeletion - In frame
LRRK2ENSG00000188906ENST00000298910p.L1653Lc.4959A>GSubstitution - coding silent
SU_LRRK2p.L1665Lc.4995A>GSubstitution - coding silent
APPL2ENSG00000136044ENST00000258530p.D267Hc.799G>CSubstitution - Missense
KIAA1033ENSG00000136051ENST00000332180p.?c.368-3C>TUnknown
LRRK2ENSG00000188906ENST00000298910p.?c.4828-3C>TUnknown
SU_LRRK2p.?c.4864-3C>TUnknown
CENPJENSG00000151849ENST00000381884p.M21Lc.61A>TSubstitution - Missense
POSTNENSG00000133110ENST00000379747p.G636Rc.1906G>ASubstitution - Missense
RNF19BENSG00000116514ENST00000373456p.G169Gc.507G>ASubstitution - coding silent
APBA2ENSG00000034053ENST00000561069p.I637Ic.1911C>TSubstitution - coding silent
ENST00000358341p.R15Pc.44G>CSubstitution - Missense
ENST00000563027_v68p.S553Fc.1658C>TSubstitution - Missense
NIT1ENSG00000158793ENST00000368009p.R314Cc.940C>TSubstitution - Missense
NIT1ENSG00000158793ENST00000368007p.R299Cc.895C>TSubstitution - Missense
NUF2ENSG00000143228ENST00000367900p.P38Rc.113C>GSubstitution - Missense
NUF2ENSG00000143228ENST00000271452p.P38Rc.113C>GSubstitution - Missense
SPENENSG00000065526ENST00000375759p.V1101Vc.3303C>TSubstitution - coding silent
TMEM52ENSG00000178821ENST00000310991p.H112Yc.334C>TSubstitution - Missense
GNB3ENSG00000111664ENST00000229264p.?c.96+7C>TUnknown
PTPRBENSG00000127329ENST00000334414p.I1797Ic.5391C>ASubstitution - coding silent
NM_002837.2p.I1579Ic.4737C>ASubstitution - coding silent
MMP13ENSG00000137745ENST00000260302p.A318Ac.954G>ASubstitution - coding silent
ENST00000381363p.D146Dc.438C>TSubstitution - coding silent
VAV3ENSG00000134215ENST00000370056p.E741Gc.2222A>GSubstitution - Missense
VAV3ENSG00000134215ENST00000415432p.E181Gc.542A>GSubstitution - Missense
ATP5F1ENSG00000116459ENST00000369722p.?c.222_224-3del1729Unknown
ATP5F1ENSG00000116459ENST00000369722p.?c.386_388-3del380Unknown
ATP5F1ENSG00000116459ENST00000369722p.?c.513_514-2del2701Unknown
ATP5F1ENSG00000116459ENST00000369722p.?c.691_694-4del1280Unknown
CFHR3ENSG00000116785ENST00000367425p.I269Kc.806T>ASubstitution - Missense
UCHL5ENSG00000116750ENST00000367450p.T88Tc.264G>CSubstitution - coding silent
MYH11ENSG00000133392ENST00000396324p.F682Fc.2046C>TSubstitution - coding silent
ENST00000338282p.F675Fc.2025C>TSubstitution - coding silent
MYH11ENSG00000133392ENST00000396324p.?c.5808-9A>GUnknown
XYLT1ENSG00000103489ENST00000261381p.G773Gc.2319G>ASubstitution - coding silent
ITGA8ENSG00000077943ENST00000378076p.S598Fc.1793C>TSubstitution - Missense
HEATR4ENSG00000187105ENST00000553558p.K60Kc.180G>ASubstitution - coding silent
VIPAS39ENSG00000151445ENST00000343765p.R460Hc.1379G>ASubstitution - Missense
TTLL5ENSG00000119685ENST00000298832p.A540Ac.1620A>GSubstitution - coding silent
CACNA1HENSG00000196557ENST00000358590p.R705Lc.2114G>TSubstitution - Missense
PCDH15ENSG00000150275ENST00000361849p.L1457Vc.4369C>GSubstitution - Missense
ENST00000417177p.L1464Vc.4390C>GSubstitution - Missense
PRKG1ENSG00000185532ENST00000401604p.P274Lc.821C>TSubstitution - Missense
OGDHLENSG00000197444ENST00000374103p.R30Hc.89G>ASubstitution - Missense
H2AFY2ENSG00000099284ENST00000373255p.D370Dc.1110C>TSubstitution - coding silent
C11orf85ENSG00000168070ENST00000301896p.R206Sc.618G>CSubstitution - Missense
TIE1ENSG00000066056ENST00000372476p.S85Lc.254C>TSubstitution - Missense
ERMAPENSG00000164010ENST00000372514p.D87Yc.259G>TSubstitution - Missense
RBM19ENSG00000122965ENST00000392561p.R17Hc.50G>ASubstitution - Missense
ERI3ENSG00000117419ENST00000372257p.L171Lc.513A>GSubstitution - coding silent
CAMKK2ENSG00000110931ENST00000324774p.R508Cc.1522C>TSubstitution - Missense
CAMKK2ENSG00000110931ENST00000392473p.R508Cc.1522C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R342*c.1024C>TSubstitution - Nonsense
TP53ENSG00000141510ENST00000269305p.?c.560-1G>AUnknown
TP53ENSG00000141510ENST00000269305p.?c.560-1G>AUnknown
ENST00000414315p.?c.164-1G>AUnknown
PKN3ENSG00000160447ENST00000291906p.Y664Cc.1991A>GSubstitution - Missense
HIST1H1CENSG00000187837ENST00000343677p.A180Ac.540G>ASubstitution - coding silent
TRPV4ENSG00000111199ENST00000261740p.N796Nc.2388C>TSubstitution - coding silent
DLC1ENSG00000164741ENST00000276297p.R351Wc.1051C>TSubstitution - Missense
CYTL1ENSG00000170891ENST00000307746p.R97Wc.289C>TSubstitution - Missense
TDRD5ENSG00000162782ENST00000367614p.E813Qc.2437G>CSubstitution - Missense
RAB40BENSG00000141542ENST00000571995p.E154Qc.460G>CSubstitution - Missense
PCK1ENSG00000124253ENST00000319441p.G334Cc.1000G>TSubstitution - Missense
TMEM132AENSG00000006118ENST00000005286p.A627Vc.1880C>TSubstitution - Missense
HDAC5ENSG00000108840ENST00000393622p.E1052Kc.3154G>ASubstitution - Missense
GTDC1ENSG00000121964ENST00000392869p.R77Wc.229C>TSubstitution - Missense
PLEKHH1ENSG00000054690ENST00000329153p.R634Qc.1901G>ASubstitution - Missense
CPED1ENSG00000106034ENST00000310396p.E381Kc.1141G>ASubstitution - Missense
CCDC106ENSG00000173581ENST00000308964p.A142Ac.426G>ASubstitution - coding silent
PIGZENSG00000119227ENST00000412723p.T490fs*10c.1467delGDeletion - Frameshift
PTGFRENSG00000122420ENST00000370756p.I222Vc.664A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.P1074Sc.3220C>TSubstitution - Missense
TMEM132AENSG00000006118ENST00000005286p.A627Vc.1880C>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.?c.560-1G>AUnknown
EIF2DENSG00000143486ENST00000271764p.?c.785-8C>GUnknown
NPC1ENSG00000141458ENST00000269228p.S167Sc.501A>GSubstitution - coding silent
PLXNA2ENSG00000076356ENST00000367033p.E88Kc.262G>ASubstitution - Missense
EIF4BENSG00000063046ENST00000262056p.S52Sc.156G>CSubstitution - coding silent
USH2AENSG00000042781ENST00000307340p.R1946Pc.5837G>CSubstitution - Missense
PROX1ENSG00000117707ENST00000498508p.N446Kc.1338C>ASubstitution - Missense
PCBP2ENSG00000197111ENST00000359462p.A207Vc.620C>TSubstitution - Missense
LINGO1ENSG00000169783ENST00000355300p.V571Vc.1713C>TSubstitution - coding silent
SART3ENSG00000075856ENST00000228284p.R528Wc.1582C>TSubstitution - Missense
VPS29ENSG00000111237ENST00000549578p.Y165Cc.494A>GSubstitution - Missense
KCTD10ENSG00000110906ENST00000228495p.I302Ic.906C>TSubstitution - coding silent
ATXN2ENSG00000204842ENST00000377617p.N762Ic.2285A>TSubstitution - Missense
FAM109AENSG00000198324ENST00000450786p.N263Dc.787A>GSubstitution - Missense
ANKRD30AENSG00000148513ENST00000602533p.R1327Cc.3979C>TSubstitution - Missense
SVILENSG00000197321ENST00000355867p.?c.8+8C>TUnknown
FAM21CENSG00000172661ENST00000374362p.S728Sc.2184C>TSubstitution - coding silent
NOC3LENSG00000173145ENST00000371361p.R473Qc.1418G>ASubstitution - Missense
OR4C5ENSG00000176540ENST00000319813p.Y239Hc.715T>CSubstitution - Missense
IFI16ENSG00000163565ENST00000368131p.I702Lc.2104A>CSubstitution - Missense
NECAP1ENSG00000089818ENST00000339754p.P23Pc.69G>ASubstitution - coding silent
EPHA8ENSG00000070886ENST00000166244p.D729Dc.2187C>TSubstitution - coding silent
MAP10ENSG00000212916ENST00000418460p.P133Pc.399C>TSubstitution - coding silent
POLEENSG00000177084ENST00000320574p.T528Tc.1584G>ASubstitution - coding silent
P2RX2ENSG00000187848ENST00000343948p.R463Qc.1388G>ASubstitution - Missense
GALNT9ENSG00000182870ENST00000535228p.F329Sc.986T>CSubstitution - Missense
TICRRENSG00000140534ENST00000268138p.E190Vc.569A>TSubstitution - Missense
KLHL25ENSG00000183655ENST00000337975p.T192Tc.576A>GSubstitution - coding silent
P4HA3ENSG00000149380ENST00000331597p.?c.717+9G>TUnknown
UVRAGENSG00000198382ENST00000356136p.N231Sc.692A>GSubstitution - Missense
UROSENSG00000188690ENST00000368786p.L205Vc.613C>GSubstitution - Missense
ZFYVE21ENSG00000100711ENST00000311141p.Y188Hc.562T>CSubstitution - Missense
CDC42BPBENSG00000198752ENST00000361246p.?c.2471+4C>TUnknown
TEP1ENSG00000129566ENST00000262715p.Q1966Rc.5897A>GSubstitution - Missense
CDH24ENSG00000139880ENST00000397359p.V192Ic.574G>ASubstitution - Missense
KHNYNENSG00000100441ENST00000251343p.T632Sc.1894A>TSubstitution - Missense
OR4D9ENSG00000172742ENST00000329328p.V112Ic.334G>ASubstitution - Missense
ZFP91ENSG00000186660ENST00000316059p.E513Kc.1537G>ASubstitution - Missense
OR10W1ENSG00000172772ENST00000395079p.A228fs*56c.682delGDeletion - Frameshift
TMEM132AENSG00000006118ENST00000005286p.A378Tc.1132G>ASubstitution - Missense


COSMIC

2 mutations reported
2 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
CDKN2AENSG00000147889ENST00000304494p.?c.1_457del457Unknown7845688
NM_021140.1p.0c.226_384del159No detectable mRNA/protein19330029