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KYAE-1 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1069 mutations reported
406 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
ENST00000319396p.G1632Rc.4894G>ASubstitution - Missense
CASP14ENSG00000105141ENST00000427043p.T26Ic.77C>TSubstitution - Missense
L3MBTL1ENSG00000185513ENST00000427442p.D164Nc.490G>ASubstitution - Missense
SCN1AENSG00000144285ENST00000423058p.E1448Dc.4344A>CSubstitution - Missense
SCN1AENSG00000144285ENST00000375405p.E1437Dc.4311A>CSubstitution - Missense
MYCBP2ENSG00000005810ENST00000357337p.?c.831+10A>GUnknown
ATAD3BENSG00000160072ENST00000308647p.Y604Hc.1810T>CSubstitution - Missense
OR51I2ENSG00000187918ENST00000341449p.R300Cc.898C>TSubstitution - Missense
COL9A1ENSG00000112280ENST00000370499p.G160Sc.478G>ASubstitution - Missense
LRRC63ENSG00000173988ENST00000446175p.R535Gc.1603A>GSubstitution - Missense
C11orf87ENSG00000185742ENST00000327419p.R87Gc.259C>GSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.S2266Pc.6796T>CSubstitution - Missense
TMEM63CENSG00000165548ENST00000298351p.N432Nc.1296C>TSubstitution - coding silent
AP4B1ENSG00000134262ENST00000369569p.I734Vc.2200A>GSubstitution - Missense
NRXN2ENSG00000110076ENST00000377551p.V637Lc.1909G>TSubstitution - Missense
SLC22A25ENSG00000196600ENST00000306494p.V512Vc.1536C>TSubstitution - coding silent
WDR59ENSG00000103091ENST00000262144p.?c.966+2T>GUnknown
HMCN1ENSG00000143341ENST00000271588p.S4590Pc.13768T>CSubstitution - Missense
NBPF10ENSG00000163386ENST00000369338p.H626Nc.1876C>ASubstitution - Missense
TMC5ENSG00000103534ENST00000396229p.?c.1486-9A>GUnknown
XIAPENSG00000101966ENST00000434753p.E350delEc.1045_1047delGAGDeletion - In frame
FAM110BENSG00000169122ENST00000361488p.R204Cc.610C>TSubstitution - Missense
ENST00000456564p.A1035_P1038delALPPc.3102_3113del12Deletion - In frame
ARHGAP29ENSG00000137962ENST00000260526p.S939Rc.2815A>CSubstitution - Missense
EFNB2ENSG00000125266ENST00000245323p.G283Gc.849C>GSubstitution - coding silent
SCN11AENSG00000168356ENST00000302328p.E868Dc.2604G>TSubstitution - Missense
ENST00000342088p.K195Tc.584A>CSubstitution - Missense
ZNF274ENSG00000171606ENST00000345813p.M427Ic.1281G>ASubstitution - Missense
AFF3ENSG00000144218ENST00000356421p.K549Kc.1647G>ASubstitution - coding silent
KAT6AENSG00000083168ENST00000265713p.M1609Vc.4825A>GSubstitution - Missense
LRRCC1ENSG00000133739ENST00000360375p.D808Yc.2422G>TSubstitution - Missense
HS3ST4ENSG00000182601ENST00000331351p.L437Vc.1309T>GSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.N499Sc.1496A>GSubstitution - Missense
SYTL3ENSG00000164674ENST00000360448p.E229Vc.686A>TSubstitution - Missense
TAX1BP1ENSG00000106052ENST00000396319p.G148Dc.443G>ASubstitution - Missense
TBC1D9BENSG00000197226ENST00000355235p.A618Tc.1852G>ASubstitution - Missense
CES2ENSG00000172831ENST00000317091p.D345Yc.1033G>TSubstitution - Missense
ENST00000449046_v65p.I473Mc.1419C>GSubstitution - Missense
PTPRKENSG00000152894ENST00000368213p.L126Fc.378A>CSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
MTSS1LENSG00000132613ENST00000338779p.T544Tc.1632C>TSubstitution - coding silent
ENST00000314657p.S141Tc.421T>ASubstitution - Missense
ENST00000312652p.P406Pc.1218A>TSubstitution - coding silent
GABRA2ENSG00000151834ENST00000540012p.S79Sc.237A>GSubstitution - coding silent
SYNE2ENSG00000054654ENST00000357395p.G2607Dc.7820G>ASubstitution - Missense
ECM2ENSG00000106823ENST00000344604p.F7Sc.20T>CSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
ABCB8ENSG00000197150ENST00000358849p.D318Dc.954C>TSubstitution - coding silent
ENST00000326295p.A171Ac.513A>GSubstitution - coding silent
WDR87ENSG00000171804ENST00000303868p.G202Sc.604G>ASubstitution - Missense
MCMDC2ENSG00000178460ENST00000313616p.A494Tc.1480G>ASubstitution - Missense
ADHFE1ENSG00000147576ENST00000379385p.A286Ac.858G>ASubstitution - coding silent
PTPRKENSG00000152894ENST00000368227p.L126Fc.378A>CSubstitution - Missense
OR6K6ENSG00000180433ENST00000368144p.L135Rc.404T>GSubstitution - Missense
SLCO3A1ENSG00000176463ENST00000318445p.?c.1688+4A>GUnknown
SYNMENSG00000182253ENST00000328642p.G607Sc.1819G>ASubstitution - Missense
SPATA7ENSG00000042317ENST00000393545p.?c.20-2_21delagTCUnknown
SEMA6DENSG00000137872ENST00000558014p.S829Nc.2486G>ASubstitution - Missense
NKX2-1ENSG00000136352ENST00000498187p.A339Vc.1016C>TSubstitution - Missense
CLK2ENSG00000176444ENST00000361168p.R494Rc.1482G>ASubstitution - coding silent
DNAH10ENSG00000197653ENST00000409039p.L3425Pc.10274T>CSubstitution - Missense
NCOR2ENSG00000196498ENST00000405201p.T1149Ic.3446C>TSubstitution - Missense
VWDEENSG00000146530ENST00000275358p.E1054Kc.3160G>ASubstitution - Missense
OR13J1ENSG00000168828ENST00000377981p.G16Ec.47G>ASubstitution - Missense
ZBP1ENSG00000124256ENST00000371173p.Q108Kc.322C>ASubstitution - Missense
ZNF492ENSG00000229676ENST00000456783p.C395Sc.1183T>ASubstitution - Missense
PELP1ENSG00000141456ENST00000301396p.A1129_P1132delALPPc.3384_3395del12Deletion - In frame
KANK1ENSG00000107104ENST00000382293p.A1169Tc.3505G>ASubstitution - Missense
PIGQENSG00000007541ENST00000321878p.A559Tc.1675G>ASubstitution - Missense
CLASP2ENSG00000163539ENST00000333778p.I188Vc.562A>GSubstitution - Missense
ZNF83ENSG00000167766ENST00000301096p.Q384*c.1150C>TSubstitution - Nonsense
DPPA2ENSG00000163530ENST00000478945p.R168fs*8c.504_505delAGDeletion - Frameshift
KIR3DL1ENSG00000167633ENST00000391728p.Q277Kc.829C>ASubstitution - Missense
MAP3K19ENSG00000176601ENST00000375845p.I107Vc.319A>GSubstitution - Missense
SP110ENSG00000135899ENST00000540870p.T123Tc.369A>GSubstitution - coding silent
CLPTM1LENSG00000049656ENST00000320895p.H125Dc.373C>GSubstitution - Missense
SLC6A18ENSG00000164363ENST00000324642p.F386fs*52c.1155_1156insCInsertion - Frameshift
KMT2CENSG00000055609ENST00000355193p.S965Sc.2895T>CSubstitution - coding silent
RANBP9ENSG00000010017ENST00000011619p.V325Vc.975C>TSubstitution - coding silent
FXR1ENSG00000114416ENST00000357559p.?c.1602_1696-3del5763Unknown
TTC9CENSG00000162222ENST00000513247p.L178Vc.532C>GSubstitution - Missense
ENST00000314657p.H140Qc.420C>ASubstitution - Missense
PPAPDC1AENSG00000203805ENST00000369073p.R186Cc.556C>TSubstitution - Missense
KLF10ENSG00000155090ENST00000285407p.T392Tc.1176G>ASubstitution - coding silent
OR6K3ENSG00000203757ENST00000368146p.I61Lc.181A>CSubstitution - Missense
ENST00000328974p.R262Wc.784C>TSubstitution - Missense
MROH2BENSG00000171495ENST00000399564p.V982Mc.2944G>ASubstitution - Missense
SLC7A7ENSG00000155465ENST00000397528p.G79Ec.236G>ASubstitution - Missense
WDFY4ENSG00000128815ENST00000360890p.V444Vc.1332G>ASubstitution - coding silent
CITENSG00000122966ENST00000392521p.D239Gc.716A>GSubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.R1540Hc.4619G>ASubstitution - Missense
LSM14BENSG00000149657ENST00000279068p.P176Hc.527C>ASubstitution - Missense
NM_032133.2p.I528Vc.1582A>GSubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.L200Lc.598T>CSubstitution - coding silent
KRTAP9-1ENSG00000240542ENST00000398470p.C143Cc.429C>TSubstitution - coding silent
ANKRD36CENSG00000174501ENST00000456556p.R1601Hc.4802G>ASubstitution - Missense
ALOX12ENSG00000108839ENST00000251535p.P606Rc.1817C>GSubstitution - Missense
EFHBENSG00000163576ENST00000295824p.R826Qc.2477G>ASubstitution - Missense
HNF4GENSG00000164749ENST00000396423p.?c.616-7C>TUnknown
RTN4ENSG00000115310ENST00000337526p.N338Tc.1013A>CSubstitution - Missense
CELSR1ENSG00000075275ENST00000262738p.?c.4184-8C>TUnknown
CC2D2AENSG00000048342ENST00000424120p.N898Ic.2693A>TSubstitution - Missense
CC2D2AENSG00000048342ENST00000389652p.N849Ic.2546A>TSubstitution - Missense
TMEM161BENSG00000164180ENST00000296595p.N397fs*36c.1190delADeletion - Frameshift
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
ATP6V1C1ENSG00000155097ENST00000395862p.Q74Qc.222A>GSubstitution - coding silent
FXR1ENSG00000114416ENST00000357559p.?c.880_881-2del3978Unknown
NME2ENSG00000011052ENST00000393193p.?c.471_472-2del1285Unknown
GOLGA2ENSG00000167110ENST00000421699p.?c.313-1G>AUnknown
DCCENSG00000187323ENST00000442544p.?c.1141-10T>GUnknown
KRTAP19-4ENSG00000186967ENST00000334058p.S78Ac.232T>GSubstitution - Missense
ZSCAN1ENSG00000152467ENST00000282326p.Q58Rc.173A>GSubstitution - Missense
ENST00000317082p.E1017Ec.3051G>ASubstitution - coding silent
IRAK1ENSG00000184216ENST00000369980p.V586Mc.1756G>ASubstitution - Missense
IL2RGENSG00000147168ENST00000374202p.S326Nc.977G>ASubstitution - Missense
PXDNENSG00000130508ENST00000252804p.V833Gc.2498T>GSubstitution - Missense
TTC14ENSG00000163728ENST00000296015p.N770Tc.2309A>CSubstitution - Missense
TXNRD1ENSG00000198431ENST00000427956p.V155Vc.465C>TSubstitution - coding silent
ZNF454ENSG00000178187ENST00000320129p.L276Lc.826T>CSubstitution - coding silent
TNXBENSG00000168477ENST00000375247p.P1919Qc.5756C>ASubstitution - Missense
DLGAP1ENSG00000170579ENST00000581699p.D278Dc.834C>TSubstitution - coding silent
PTPN14ENSG00000152104ENST00000366956p.R1045Lc.3134G>TSubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.A725Tc.2173G>ASubstitution - Missense
GSK3BENSG00000082701ENST00000316626p.R332Hc.995G>ASubstitution - Missense
FERMT3ENSG00000149781ENST00000279227p.R107Rc.321C>ASubstitution - coding silent
SLC22A25ENSG00000196600ENST00000306494p.?c.1395-1G>AUnknown
PPAPDC1AENSG00000203805ENST00000398250p.R196Cc.586C>TSubstitution - Missense
AREL1ENSG00000119682ENST00000356357p.P311Pc.933A>GSubstitution - coding silent
VTCN1ENSG00000134258ENST00000369458p.F199Lc.597T>ASubstitution - Missense
SYNE3ENSG00000176438ENST00000334258p.A238Ec.713C>ASubstitution - Missense
SLC12A1ENSG00000074803ENST00000396577p.H1001Qc.3003T>ASubstitution - Missense
NPAS3ENSG00000151322ENST00000356141p.V334Vc.1002C>GSubstitution - coding silent
MRPL45ENSG00000174100ENST00000312513p.K179Nc.537G>CSubstitution - Missense
FRG2CENSG00000172969ENST00000308062p.S34*c.101C>ASubstitution - Nonsense
PRSS3ENSG00000010438ENST00000361005p.T124Ic.371C>TSubstitution - Missense
ZNF28ENSG00000198538ENST00000457749p.S223Sc.669C>TSubstitution - coding silent
IL17CENSG00000124391ENST00000244241p.I135Ic.405C>TSubstitution - coding silent
GTF3C3ENSG00000119041ENST00000263956p.R140fs*10c.418delADeletion - Frameshift
TTNENSG00000155657ENST00000342175p.A20596Vc.61787C>TSubstitution - Missense
MTX2ENSG00000128654ENST00000249442p.?c.286-4T>GUnknown
PCNTENSG00000160299ENST00000359568p.C1225Yc.3674G>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.A745Ac.2235C>ASubstitution - coding silent
ENST00000326929p.T549Sc.1646C>GSubstitution - Missense
CES2ENSG00000172831ENST00000317091p.?c.615_616-2del863Unknown
GRK7ENSG00000114124ENST00000264952p.F202fs*9c.603delTDeletion - Frameshift
ZNF117ENSG00000152926ENST00000282869p.H99Hc.297C>TSubstitution - coding silent
KBTBD12ENSG00000187715ENST00000405109p.F299Lc.897T>GSubstitution - Missense
PFDN1ENSG00000113068ENST00000261813p.E93Kc.277G>ASubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.N13Nc.39T>CSubstitution - coding silent
EIF4G1ENSG00000114867ENST00000319274p.?c.425-10C>GUnknown
RHAGENSG00000112077ENST00000371175p.R191Qc.572G>ASubstitution - Missense
SGK2ENSG00000101049ENST00000341458p.?c.778-3C>TUnknown
EML5ENSG00000165521ENST00000352093p.K1317Mc.3950A>TSubstitution - Missense
CMKLR1ENSG00000174600ENST00000312143p.L92Lc.276C>GSubstitution - coding silent
ENST00000242630p.K41Kc.123G>ASubstitution - coding silent
LRRK2ENSG00000188906ENST00000298910p.Y2023Yc.6069C>TSubstitution - coding silent
FGD6ENSG00000180263ENST00000343958p.V901Vc.2703A>GSubstitution - coding silent
CNTN5ENSG00000149972ENST00000528682p.T1098Ac.3292A>GSubstitution - Missense
SLC35E3ENSG00000175782ENST00000398004p.S184*c.551C>GSubstitution - Nonsense
SETD1BENSG00000139718ENST00000267197p.E454Ec.1362G>ASubstitution - coding silent
PARP4ENSG00000102699ENST00000381989p.P120Pc.360G>ASubstitution - coding silent
ZFYVE9ENSG00000157077ENST00000287727p.I425Mc.1275T>GSubstitution - Missense
ITGB4ENSG00000132470ENST00000339591p.P1050Ac.3148C>GSubstitution - Missense
TXNL1ENSG00000091164ENST00000217515p.K284Rc.851A>GSubstitution - Missense
HYAL3ENSG00000186792ENST00000336307p.V273Lc.817G>CSubstitution - Missense
KRT27ENSG00000171446ENST00000301656p.?c.847-9C>GUnknown
CBX2ENSG00000173894ENST00000310942p.P201Pc.603C>GSubstitution - coding silent
KANK1ENSG00000107104ENST00000382303p.A1327Tc.3979G>ASubstitution - Missense
SLCO4C1ENSG00000173930ENST00000310954p.S71Sc.213C>TSubstitution - coding silent
TSLPENSG00000145777ENST00000344895p.R153Qc.458G>ASubstitution - Missense
COLEC10ENSG00000184374ENST00000332843p.V17Lc.49G>TSubstitution - Missense
DIAPH2ENSG00000147202ENST00000373049p.A1087Ac.3261A>TSubstitution - coding silent
IL2RGENSG00000147168ENST00000374202p.S326Nc.977G>ASubstitution - Missense
IFT140ENSG00000187535ENST00000426508p.E1119Dc.3357G>CSubstitution - Missense
TBX3ENSG00000135111ENST00000257566p.A562Vc.1685C>TSubstitution - Missense
CITENSG00000122966ENST00000261833p.D239Gc.716A>GSubstitution - Missense
RPL22ENSG00000116251ENST00000234875p.N38Sc.113A>GSubstitution - Missense
RFWD3ENSG00000168411ENST00000361070p.?c.1080-6C>TUnknown
SHQ1ENSG00000144736ENST00000325599p.S384Sc.1152A>CSubstitution - coding silent
CSMD1ENSG00000183117ENST00000537824p.?c.4985-7T>GUnknown
ENST00000405167p.H1661Dc.4981C>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.S11486Rc.34456A>CSubstitution - Missense
NM_003319p.F20604Vc.61810T>GSubstitution - Missense
GRM3ENSG00000198822ENST00000361669p.G649Gc.1947G>ASubstitution - coding silent
NM_005496.2p.L376Lc.1128G>TSubstitution - coding silent
FEM1CENSG00000145780ENST00000274457p.E62Gc.185A>GSubstitution - Missense
CTNND2ENSG00000169862ENST00000304623p.A1132Pc.3394G>CSubstitution - Missense
TRIM36ENSG00000152503ENST00000282369p.S411Sc.1233C>TSubstitution - coding silent
COL14A1ENSG00000187955ENST00000297848p.A1667Tc.4999G>ASubstitution - Missense
CSMD3ENSG00000164796ENST00000297405p.E2249Qc.6745G>CSubstitution - Missense
DSTENSG00000151914ENST00000370769p.Q1496Hc.4488G>CSubstitution - Missense
AMER1ENSG00000184675ENST00000330258p.S85Nc.254G>ASubstitution - Missense
TCF21ENSG00000118526ENST00000237316p.W152Rc.454T>CSubstitution - Missense
PALM2ENSG00000243444ENST00000374531p.G354Gc.1062G>CSubstitution - coding silent
DHRS9ENSG00000073737ENST00000357546p.N111Sc.332A>GSubstitution - Missense
PLEKHG4BENSG00000153404ENST00000283426p.L767Ic.2299C>ASubstitution - Missense
ATP10BENSG00000118322ENST00000327245p.K442Ec.1324A>GSubstitution - Missense
UTRNENSG00000152818ENST00000367526p.L338Rc.1013T>GSubstitution - Missense
SDK2ENSG00000069188ENST00000392650p.R2133Qc.6398G>ASubstitution - Missense
SEBOX,VTNENSG00000109072ENST00000226218p.P251Lc.752C>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.P152Lc.455C>TSubstitution - Missense
SPAG17ENSG00000155761ENST00000336338p.M1052Vc.3154A>GSubstitution - Missense
LY9ENSG00000122224ENST00000368041p.T253Mc.758C>TSubstitution - Missense
PAQR5ENSG00000137819ENST00000395407p.A63Ac.189A>GSubstitution - coding silent
RYR3ENSG00000198838ENST00000389232p.S2889Sc.8667C>TSubstitution - coding silent
WWP1ENSG00000123124ENST00000517970p.P282Sc.844C>TSubstitution - Missense
ITIH1ENSG00000055957ENST00000273283p.S38Sc.114C>TSubstitution - coding silent
EPB41L1ENSG00000088367ENST00000338074p.K12Rc.35A>GSubstitution - Missense
CTCFLENSG00000124092ENST00000243914p.K32Ec.94A>GSubstitution - Missense
MYCBPAPENSG00000136449ENST00000323776p.I565Vc.1693A>GSubstitution - Missense
TIGD5ENSG00000179886ENST00000321385p.K377Qc.1129A>CSubstitution - Missense
KIAA1549ENSG00000122778ENST00000422774p.F1006Lc.3018C>GSubstitution - Missense
ARL13BENSG00000169379ENST00000303097p.Y299Cc.896A>GSubstitution - Missense
RETSATENSG00000042445ENST00000295802p.T466Tc.1398T>CSubstitution - coding silent
ENST00000316893p.D879Dc.2637C>TSubstitution - coding silent
ZNF274ENSG00000171606ENST00000326804p.M459Ic.1377G>ASubstitution - Missense
CXorf22ENSG00000165164ENST00000297866p.G6Dc.17G>ASubstitution - Missense
TTNENSG00000155657ENST00000359218p.A20529Vc.61586C>TSubstitution - Missense
NM_003319p.A20404Vc.61211C>TSubstitution - Missense
COL6A3ENSG00000163359ENST00000392004p.G466Vc.1397G>TSubstitution - Missense
COL9A1ENSG00000112280ENST00000320755p.G160Sc.478G>ASubstitution - Missense
MCM7ENSG00000166508ENST00000303887p.R282Cc.844C>TSubstitution - Missense
RAD51DENSG00000185379ENST00000345365p.?c.904-2A>TUnknown
C9orf96ENSG00000198870ENST00000371957p.S304Lc.911C>TSubstitution - Missense
FGF10ENSG00000070193ENST00000264664p.P186Lc.557C>TSubstitution - Missense
RESTENSG00000084093ENST00000309042p.V739Mc.2215G>ASubstitution - Missense
ENST00000415411p.L65Hc.194T>ASubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.?c.9710-1G>AUnknown
MRPS14ENSG00000120333ENST00000476371p.M93Tc.278T>CSubstitution - Missense
PCENSG00000173599ENST00000355677p.T175Tc.525G>ASubstitution - coding silent
RGS2ENSG00000116741ENST00000235382p.S3Sc.9T>CSubstitution - coding silent
GSTM4ENSG00000168765ENST00000369836p.Y28Yc.84C>TSubstitution - coding silent
MYO3AENSG00000095777ENST00000543632p.H442Nc.1324C>ASubstitution - Missense
RGMAENSG00000182175ENST00000329082p.P447Sc.1339C>TSubstitution - Missense
GOLGA8MENSG00000188626ENST00000563027p.S553Fc.1658C>TSubstitution - Missense
ENST00000280576p.L2017Pc.6050T>CSubstitution - Missense
MROH8ENSG00000101353ENST00000343811p.L163Lc.489C>ASubstitution - coding silent
ARL16ENSG00000214087ENST00000397498p.V40Ac.119T>CSubstitution - Missense
TYW5ENSG00000162971ENST00000354611p.A2Ac.6C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.S17791Rc.53371A>CSubstitution - Missense
CEP192ENSG00000101639ENST00000325971p.G1292Gc.3876C>TSubstitution - coding silent
GABRA2ENSG00000151834ENST00000356504p.S134Sc.402A>GSubstitution - coding silent
CRHR2ENSG00000106113ENST00000341843p.R370Qc.1109G>ASubstitution - Missense
CAPN7ENSG00000131375ENST00000253693p.Y667*c.2001C>ASubstitution - Nonsense
ENST00000405167p.A1662Tc.4984G>ASubstitution - Missense
ADPRHENSG00000144843ENST00000357003p.R160Wc.478C>TSubstitution - Missense
CSF1RENSG00000182578ENST00000286301p.L769Lc.2307C>TSubstitution - coding silent
TRIOENSG00000038382ENST00000344204p.E2471Ec.7413G>ASubstitution - coding silent
ANKFY1ENSG00000185722ENST00000574367p.E380Ec.1140A>GSubstitution - coding silent
FERD3LENSG00000146618ENST00000275461p.T154Tc.462C>TSubstitution - coding silent
ENST00000316490p.E4206Ac.12617A>CSubstitution - Missense
ENST00000263817_v70p.A672Ac.2016A>TSubstitution - coding silent
C11orf63ENSG00000109944ENST00000307257p.Q185Qc.555G>ASubstitution - coding silent
ENST00000242630p.R43Rc.129C>ASubstitution - coding silent
PRSS3ENSG00000010438ENST00000429677p.T60Ic.179C>TSubstitution - Missense
SYT9ENSG00000170743ENST00000318881p.?c.1468-9T>GUnknown
NADKENSG00000008130ENST00000344463p.P197Pc.591C>TSubstitution - coding silent
MYH6ENSG00000197616ENST00000356287p.E1754Kc.5260G>ASubstitution - Missense
OTX2ENSG00000165588ENST00000339475p.F278Vc.832T>GSubstitution - Missense
GSKIPENSG00000100744ENST00000555181p.?c.259-100_272del114Unknown
MYO5AENSG00000197535ENST00000399231p.F1551Ic.4651T>ASubstitution - Missense
CFHR5ENSG00000134389ENST00000256785p.E49Dc.147A>CSubstitution - Missense
TMC5ENSG00000103534ENST00000219821p.?c.748-9A>GUnknown
CDC27ENSG00000004897ENST00000066544p.Y496*c.1488C>ASubstitution - Nonsense
ATPIF1ENSG00000130770ENST00000335514p.?c.85_88-4del90Unknown
SYNE2ENSG00000054654ENST00000358025p.G6222Dc.18665G>ASubstitution - Missense
PTDSS1ENSG00000156471ENST00000517309p.?c.1174-8T>CUnknown
TSPYL5ENSG00000180543ENST00000322128p.Q236_H237insQc.710_711insGCAInsertion - In frame
MYO15AENSG00000091536ENST00000205890p.D276Nc.826G>ASubstitution - Missense
COL4A6ENSG00000197565ENST00000334504p.G168Rc.502G>ASubstitution - Missense
COL4A6ENSG00000197565ENST00000394872p.G167Rc.499G>ASubstitution - Missense
METTL22ENSG00000067365ENST00000381920p.A301Ac.903C>TSubstitution - coding silent
ENST00000356127p.F27099Vc.81295T>GSubstitution - Missense
ENST00000246000p.L124Hc.371T>ASubstitution - Missense
IQCF2ENSG00000184345ENST00000333127p.R99Gc.295A>GSubstitution - Missense
CDHR4ENSG00000187492ENST00000412678p.K102Rc.305A>GSubstitution - Missense
SP8ENSG00000164651ENST00000361443p.K374Qc.1120A>CSubstitution - Missense
CES2ENSG00000172831ENST00000317091p.?c.1329_1330-2del256Unknown
FBN2ENSG00000138829ENST00000262464p.?c.533-6A>GUnknown
CMYA5ENSG00000164309ENST00000446378p.N1737Yc.5209A>TSubstitution - Missense
NM_152424.1p.S85Nc.254G>ASubstitution - Missense
PCDHGA1ENSG00000204956ENST00000517417p.E276Dc.828A>CSubstitution - Missense
TADA2AENSG00000108264ENST00000394395p.N9Kc.27T>ASubstitution - Missense
FXR1ENSG00000114416ENST00000357559p.?c.1402_1403-2del1903Unknown
HNRNPABENSG00000197451ENST00000358344p.G324delGc.965_967delGTGDeletion - In frame
GPR115ENSG00000153294ENST00000327753p.N555Yc.1663A>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.Q6789Hc.20367A>CSubstitution - Missense
DLGAP1ENSG00000170579ENST00000581527p.D572Dc.1716C>TSubstitution - coding silent
ARHGEF11ENSG00000132694ENST00000315174p.?c.617-10C>TUnknown
MYRFENSG00000124920ENST00000327797p.I262Ic.786C>TSubstitution - coding silent
SCAPERENSG00000140386ENST00000324767p.R562Rc.1686C>TSubstitution - coding silent
HOXC13ENSG00000123364ENST00000243056p.R204Sc.610C>ASubstitution - Missense
SSH1ENSG00000084112ENST00000326470p.K582Kc.1746A>GSubstitution - coding silent
KIAA0430ENSG00000166783ENST00000396368p.V1041Ac.3122T>CSubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.T2057Mc.6170C>TSubstitution - Missense
COX15ENSG00000014919ENST00000016171p.R222Cc.664C>TSubstitution - Missense
HPSE2ENSG00000172987ENST00000370552p.Q40Pc.119A>CSubstitution - Missense
TTC40ENSG00000171811ENST00000263170p.L647Pc.1940T>CSubstitution - Missense
NTRK3ENSG00000140538ENST00000394480p.L134Lc.402G>CSubstitution - coding silent
RBM34ENSG00000188739ENST00000408888p.Q66Ec.196C>GSubstitution - Missense
TMTC1ENSG00000133687ENST00000256062p.G623Dc.1868G>ASubstitution - Missense
RRP1ENSG00000160214ENST00000497547p.?c.989+1G>AUnknown
ADGBENSG00000118492ENST00000397944p.T549Sc.1646C>GSubstitution - Missense
CBX3ENSG00000122565ENST00000337620p.K106Kc.318G>ASubstitution - coding silent
PARK2ENSG00000185345ENST00000366898p.K129Kc.387G>ASubstitution - coding silent
C3orf20ENSG00000131379ENST00000253697p.P590Pc.1770C>TSubstitution - coding silent
ENST00000317082_v61p.E1017Ec.3051G>ASubstitution - coding silent
MROH2AENSG00000185038ENST00000389758p.E251Ec.753G>ASubstitution - coding silent
WDR87ENSG00000171804ENST00000447313p.G241Sc.721G>ASubstitution - Missense
KIAA0947ENSG00000164151ENST00000296564p.A807Gc.2420C>GSubstitution - Missense
MATN4ENSG00000124159ENST00000372754p.?c.767-4T>CUnknown
CR1ENSG00000203710ENST00000367049p.G1937Gc.5811G>TSubstitution - coding silent
SLCO6A1ENSG00000205359ENST00000379807p.R350Hc.1049G>ASubstitution - Missense
VEZTENSG00000028203ENST00000436874p.?c.710+7T>AUnknown
EDRF1ENSG00000107938ENST00000356792p.S141Sc.423G>ASubstitution - coding silent
NRIP3ENSG00000175352ENST00000309166p.K101*c.301A>TSubstitution - Nonsense
CFHR5ENSG00000134389ENST00000367414p.E73Dc.219A>CSubstitution - Missense
XYLT1ENSG00000103489ENST00000261381p.E854Ac.2561A>CSubstitution - Missense
MACF1ENSG00000127603ENST00000360115p.?c.8416-5A>CUnknown
ZC2HC1CENSG00000119703ENST00000524913p.P86Lc.257C>TSubstitution - Missense
NGFENSG00000134259ENST00000369512p.G131Vc.392G>TSubstitution - Missense
SHC1ENSG00000160691ENST00000368453p.A136Tc.406G>ASubstitution - Missense
FLGENSG00000143631ENST00000368799p.E206Kc.616G>ASubstitution - Missense
C1orf186ENSG00000196533ENST00000331555p.M37Lc.109A>TSubstitution - Missense
PPM1DENSG00000170836ENST00000305921p.C346Fc.1037G>TSubstitution - Missense
RAPGEFL1ENSG00000108352ENST00000264644p.V177Gc.530T>GSubstitution - Missense
KRTAP1-3ENSG00000221880ENST00000344363p.F44Cc.131T>GSubstitution - Missense
GPR126ENSG00000112414ENST00000367609p.F814Sc.2441T>CSubstitution - Missense
GPR126ENSG00000112414ENST00000367609p.?c.3036-4T>CUnknown
BSGENSG00000172270ENST00000333511p.G269Cc.805G>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.S11419Rc.34255A>CSubstitution - Missense
NM_003319p.S11294Rc.33880A>CSubstitution - Missense
TTNENSG00000155657ENST00000342175p.N17371Kc.52113C>GSubstitution - Missense
PSMD1ENSG00000173692ENST00000308696p.?c.2219-6C>AUnknown
VAV2ENSG00000160293ENST00000406606p.R650Qc.1949G>ASubstitution - Missense
NME1-NME2ENSG00000243678ENST00000514264p.?c.126_127-2del1285Unknown
SLC6A18ENSG00000164363ENST00000324642p.F386fs*52c.1153_1154insCInsertion - Frameshift
ENST00000370385p.R68Hc.203G>ASubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.S1170Sc.3510A>CSubstitution - coding silent
ELOVL4ENSG00000118402ENST00000369816p.C241Cc.723C>TSubstitution - coding silent
PHACTR1ENSG00000112137ENST00000332995p.Y410Yc.1230C>TSubstitution - coding silent
MYRFENSG00000124920ENST00000278836p.I637Ic.1911C>TSubstitution - coding silent
HBBENSG00000244734ENST00000335295p.L92Lc.274C>TSubstitution - coding silent
DLC1ENSG00000164741ENST00000276297p.K223Ec.667A>GSubstitution - Missense
LRRC6ENSG00000129295ENST00000250173p.V341Mc.1021G>ASubstitution - Missense
COL22A1ENSG00000169436ENST00000303045p.G970Rc.2908G>ASubstitution - Missense
KIAA1456ENSG00000250305ENST00000447063p.S25Sc.75C>TSubstitution - coding silent
CDHR4ENSG00000187492ENST00000343366p.K102Rc.305A>GSubstitution - Missense
GOLGA8HENSG00000261794ENST00000566740p.K37Rc.110A>GSubstitution - Missense
UBR4ENSG00000127481ENST00000375267p.?c.13391-5C>TUnknown
ALPLENSG00000162551ENST00000374832p.K27Ec.79A>GSubstitution - Missense
FMO3ENSG00000007933ENST00000367755p.N183Nc.549T>CSubstitution - coding silent
TXNRD1ENSG00000198431ENST00000378070p.V139Vc.417C>TSubstitution - coding silent
VEZTENSG00000028203ENST00000261219p.?c.566+7T>AUnknown
UROSENSG00000188690ENST00000368786p.T247Mc.740C>TSubstitution - Missense
NTRK3ENSG00000140538ENST00000317501p.L134Lc.402G>CSubstitution - coding silent
ALPK3ENSG00000136383ENST00000258888p.P944Sc.2830C>TSubstitution - Missense
NAV1ENSG00000134369ENST00000367296p.R1143*c.3427C>TSubstitution - Nonsense
GPR158ENSG00000151025ENST00000376351p.K43Qc.127A>CSubstitution - Missense
MYO3AENSG00000095777ENST00000265944p.H442Nc.1324C>ASubstitution - Missense
EIF2B2ENSG00000119718ENST00000266126p.L22Lc.64C>TSubstitution - coding silent
TIMM23ENSG00000138297ENST00000260867p.L205Lc.615C>TSubstitution - coding silent
SETD1BENSG00000139718ENST00000542440p.E1573Ec.4719G>ASubstitution - coding silent
UNC79ENSG00000133958ENST00000256339p.R1341Hc.4022G>ASubstitution - Missense
PAX9ENSG00000198807ENST00000402703p.I56Ic.168C>TSubstitution - coding silent
IL36GENSG00000136688ENST00000259205p.?c.161-10A>GUnknown
PCLOENSG00000186472ENST00000333891p.G4244Gc.12732C>TSubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.Q7177Hc.21531A>CSubstitution - Missense
PKHD1L1ENSG00000205038ENST00000378402p.E3095Gc.9284A>GSubstitution - Missense
PPP4R1ENSG00000154845ENST00000400556p.R681Gc.2041C>GSubstitution - Missense
DAPK3ENSG00000167657ENST00000301264p.?c.783-10G>AUnknown
PASD1ENSG00000166049ENST00000370357p.E636Dc.1908G>TSubstitution - Missense
TADA2AENSG00000108264ENST00000394395p.N9Kc.27T>ASubstitution - Missense
OR4C13ENSG00000258817ENST00000555099p.F105Fc.315C>TSubstitution - coding silent
PPP2R2CENSG00000074211ENST00000335585p.D323Hc.967G>CSubstitution - Missense
TRAF3IP3ENSG00000009790ENST00000367024p.Q300Hc.900A>TSubstitution - Missense
OR5M9ENSG00000150269ENST00000279791p.I44Nc.131T>ASubstitution - Missense
BMP10ENSG00000163217ENST00000295379p.V406Vc.1218C>TSubstitution - coding silent
DCAF4L2ENSG00000176566ENST00000319675p.R113Wc.337C>TSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.G4244Gc.12732C>TSubstitution - coding silent
HPSE2ENSG00000172987ENST00000370546p.Q40Pc.119A>CSubstitution - Missense
INCENPENSG00000149503ENST00000394818p.S269Sc.807G>ASubstitution - coding silent
NCAM1ENSG00000149294ENST00000316851p.A753Ac.2259C>TSubstitution - coding silent
IL10RAENSG00000110324ENST00000227752p.V113Vc.339C>TSubstitution - coding silent
CIITAENSG00000179583ENST00000324288p.P517Lc.1550C>TSubstitution - Missense
CTPS1ENSG00000171793ENST00000372621p.R564Rc.1692G>ASubstitution - coding silent
ENOX2ENSG00000165675ENST00000370927p.W214*c.642G>ASubstitution - Nonsense
SYNE3ENSG00000176438ENST00000334258p.A238Ec.713C>ASubstitution - Missense
GDAENSG00000119125ENST00000414671p.S170Fc.509C>TSubstitution - Missense
HIST1H2BEENSG00000197697ENST00000356530p.K17Nc.51G>CSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.G4244Gc.12732C>TSubstitution - coding silent
GREB1ENSG00000196208ENST00000263834p.A380Ac.1140C>TSubstitution - coding silent
PIGQENSG00000007541ENST00000026218p.R538Hc.1613G>ASubstitution - Missense
TRIM36ENSG00000152503ENST00000282369p.S411Sc.1233C>TSubstitution - coding silent
SLC16A6ENSG00000108932ENST00000327268p.G98Vc.293G>TSubstitution - Missense
PPP2CBENSG00000104695ENST00000221138p.R49Hc.146G>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000359357p.A46Ec.137C>ASubstitution - Missense
NM_001371.1p.A46Ec.137C>ASubstitution - Missense
RTN4ENSG00000115310ENST00000357376p.N132Tc.395A>CSubstitution - Missense
DIS3L2ENSG00000144535ENST00000273009p.F80Cc.239T>GSubstitution - Missense
RAD51DENSG00000185379ENST00000394589p.?c.964-2A>TUnknown
STXBP1ENSG00000136854ENST00000373302p.E555Kc.1663G>ASubstitution - Missense
STXBP1ENSG00000136854ENST00000373299p.E555Kc.1663G>ASubstitution - Missense
RESTENSG00000084093ENST00000309042p.V755Mc.2263G>ASubstitution - Missense
ECM2ENSG00000106823ENST00000444490p.F7Sc.20T>CSubstitution - Missense
CLCN1ENSG00000188037ENST00000343257p.?c.854-3C>TUnknown
ARID5BENSG00000150347ENST00000309334p.Q389Qc.1167G>ASubstitution - coding silent
TAS2R14ENSG00000212127ENST00000537503p.S65Sc.195C>TSubstitution - coding silent
C9orf131ENSG00000174038ENST00000312292p.D110Dc.330C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.P152Lc.455C>TSubstitution - Missense
GOLGA3ENSG00000090615ENST00000204726p.A691Vc.2072C>TSubstitution - Missense
ENST00000446175_v65p.R535Gc.1603A>GSubstitution - Missense
CD3EENSG00000198851ENST00000361763p.G29Gc.87T>CSubstitution - coding silent
MACF1ENSG00000127603ENST00000361689p.?c.6910-5A>CUnknown
PLBD2ENSG00000151176ENST00000280800p.F462Lc.1384T>CSubstitution - Missense
NADKENSG00000008130ENST00000342348p.P61Pc.183C>TSubstitution - coding silent
MARK2ENSG00000072518ENST00000402010p.D322Dc.966C>TSubstitution - coding silent
PCENSG00000173599ENST00000393955p.T175Tc.525G>ASubstitution - coding silent
C15orf53ENSG00000175779ENST00000318792p.P81Pc.243T>GSubstitution - coding silent
CCDC88CENSG00000015133ENST00000389857p.L487Rc.1460T>GSubstitution - Missense
FSCBENSG00000189139ENST00000340446p.E570fs*4c.1709_1713delAAGAGDeletion - Frameshift
TUBGCP5ENSG00000153575ENST00000283645p.M653Ic.1959G>ASubstitution - Missense
TMCC2ENSG00000133069ENST00000358024p.A652Ac.1956G>ASubstitution - coding silent
EFCAB3ENSG00000172421ENST00000450662p.G227Ec.680G>ASubstitution - Missense
ENST00000422365_v68p.A494Tc.1480G>ASubstitution - Missense
MCMDC2ENSG00000178460ENST00000396592p.A494Tc.1480G>ASubstitution - Missense
ZBTB33ENSG00000177485ENST00000326624p.I652Vc.1954A>GSubstitution - Missense
STARD3ENSG00000131748ENST00000336308p.E257Ac.770A>CSubstitution - Missense
XM_375443.1p.V17Ic.49G>ASubstitution - Missense
CPS1ENSG00000021826ENST00000430249p.?c.3577-5_3601>29Unknown
CDH17ENSG00000079112ENST00000027335p.N237_W239delNIWc.711_719delTATTTGGAADeletion - In frame
CSMD1ENSG00000183117ENST00000537824p.T2057Mc.6170C>TSubstitution - Missense
FRMPD1ENSG00000070601ENST00000377765p.P1369Lc.4106C>TSubstitution - Missense
DGAT1ENSG00000185000ENST00000332324p.?c.469-4C>AUnknown
ARCENSG00000198576ENST00000356613p.V209Mc.625G>ASubstitution - Missense
LMTK2ENSG00000164715ENST00000297293p.D957Dc.2871C>TSubstitution - coding silent
SVOPLENSG00000157703ENST00000419765p.A240Vc.719C>TSubstitution - Missense
SYTL3ENSG00000164674ENST00000360448p.M230Lc.688A>TSubstitution - Missense
IL18R1ENSG00000115604ENST00000233957p.S238Cc.713C>GSubstitution - Missense
SLC4A7ENSG00000033867ENST00000295736p.P1189Hc.3566C>ASubstitution - Missense
BAXENSG00000087088ENST00000293288p.T140Tc.420A>GSubstitution - coding silent
FBN2ENSG00000138829ENST00000508053p.?c.533-6A>GUnknown
MYLK3ENSG00000140795ENST00000394809p.D435Hc.1303G>CSubstitution - Missense
ZSCAN1ENSG00000152467ENST00000391700p.Q58Rc.173A>GSubstitution - Missense
COMMD4ENSG00000140365ENST00000267935p.?c.181+8T>CUnknown
HDAC4ENSG00000068024ENST00000345617p.R704Cc.2110C>TSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.P152Lc.455C>TSubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.V450Ac.1349T>CSubstitution - Missense
MKXENSG00000150051ENST00000375790p.?c.838+9G>AUnknown
DDI1ENSG00000170967ENST00000302259p.S173Sc.519C>TSubstitution - coding silent
TMED2ENSG00000086598ENST00000262225p.L11Lc.31C>TSubstitution - coding silent
DLGAP4ENSG00000080845ENST00000340491p.S113fs*1c.336_337delCTDeletion - Frameshift
ERICH1ENSG00000104714ENST00000262109p.E92Kc.274G>ASubstitution - Missense
LRRCC1ENSG00000133739ENST00000414626p.D788Yc.2362G>TSubstitution - Missense
RPIAENSG00000153574ENST00000283646p.?c.596+7T>AUnknown
SHANK3ENSG00000251322ENST00000262795p.P1279Lc.3836C>TSubstitution - Missense
C9orf173ENSG00000197768ENST00000388931p.H358fs*>20c.1069_1097del29Deletion - Frameshift
MUC17ENSG00000169876ENST00000306151p.A1786Gc.5357C>GSubstitution - Missense
ENST00000539592p.Q224Ec.670C>GSubstitution - Missense
KLHL32ENSG00000186231ENST00000447886p.G123_Q126delGLPQc.367_378del12Deletion - In frame
DSTENSG00000151914ENST00000370769p.E6266Kc.18796G>ASubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.S965Sc.2895T>CSubstitution - coding silent
SCN2AENSG00000136531ENST00000375437p.R607*c.1819C>TSubstitution - Nonsense
HECW1ENSG00000002746ENST00000395891p.S527Sc.1581G>ASubstitution - coding silent
RGS22ENSG00000132554ENST00000360863p.I538Ic.1614T>CSubstitution - coding silent
RP1L1ENSG00000183638ENST00000382483p.Q1646Kc.4936C>ASubstitution - Missense
TADA2AENSG00000108264ENST00000417170p.N9Kc.27T>ASubstitution - Missense
NKX2-1ENSG00000136352ENST00000354822p.A369Vc.1106C>TSubstitution - Missense
COL22A1ENSG00000169436ENST00000303045p.G970Ec.2909G>ASubstitution - Missense
OR1B1ENSG00000171484ENST00000304833p.R142Qc.425G>ASubstitution - Missense
MORC2ENSG00000133422ENST00000215862p.E646Dc.1938G>TSubstitution - Missense
FAM135AENSG00000082269ENST00000418814p.A237Ac.711G>CSubstitution - coding silent
GOLGA3ENSG00000090615ENST00000456883p.A691Vc.2072C>TSubstitution - Missense
NEUROD4ENSG00000123307ENST00000242994p.H318Hc.954T>CSubstitution - coding silent
SCAPERENSG00000140386ENST00000538941p.R316Rc.948C>TSubstitution - coding silent
ZMPSTE24ENSG00000084073ENST00000372759p.L438Fc.1312C>TSubstitution - Missense
SLC22A6ENSG00000197901ENST00000377871p.L340Lc.1020C>TSubstitution - coding silent
ANO4ENSG00000151572ENST00000392979p.V89Vc.267G>ASubstitution - coding silent
LDB1ENSG00000198728ENST00000425280p.G26Sc.76G>ASubstitution - Missense
ITGA11ENSG00000137809ENST00000315757p.E926Kc.2776G>ASubstitution - Missense
PLEKHA6ENSG00000143850ENST00000272203p.Y380*c.1140T>ASubstitution - Nonsense
ENST00000316851_v65p.A753Ac.2259C>TSubstitution - coding silent
CASS4ENSG00000087589ENST00000360314p.I516Ic.1548T>CSubstitution - coding silent
ARFGEF1ENSG00000066777ENST00000262215p.?c.125-9T>CUnknown
NM_014363.3p.I562Vc.1684A>GSubstitution - Missense
NM_014916p.D957Dc.2871C>TSubstitution - coding silent
ANKRD20A4ENSG00000172014ENST00000357336p.S394Gc.1180A>GSubstitution - Missense
ABCA5ENSG00000154265ENST00000392676p.E207Kc.619G>ASubstitution - Missense
DKK2ENSG00000155011ENST00000285311p.G48Gc.144T>CSubstitution - coding silent
C20orf195ENSG00000125531ENST00000370097p.V230Ic.688G>ASubstitution - Missense
ZNF320ENSG00000182986ENST00000391781p.S122Ic.365G>TSubstitution - Missense
SNED1ENSG00000162804ENST00000310397p.P338Lc.1013C>TSubstitution - Missense
TTNENSG00000155657ENST00000342992p.F27101Vc.81301T>GSubstitution - Missense
KSR2ENSG00000171435ENST00000339824p.K875Rc.2624A>GSubstitution - Missense
OR5L1ENSG00000186117ENST00000333973p.I211Ic.633C>TSubstitution - coding silent
OR51J1ENSG00000184321ENST00000332043p.L222Fc.664C>TSubstitution - Missense
CHD1LENSG00000131778ENST00000369258p.?c.896-10T>AUnknown
GSTM4ENSG00000168765ENST00000326729p.Y28Yc.84C>TSubstitution - coding silent
CACNA1EENSG00000198216ENST00000367567p.?c.2433+9T>GUnknown
SYNE2ENSG00000054654ENST00000357395p.G462Vc.1385G>TSubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.?c.6910-5A>CUnknown
MYO5AENSG00000197535ENST00000358212p.F1576Ic.4726T>ASubstitution - Missense
TNK1ENSG00000174292ENST00000570896p.S538Sc.1614C>ASubstitution - coding silent
SDK2ENSG00000069188ENST00000392650p.D879Dc.2637C>TSubstitution - coding silent
MYCBPAPENSG00000136449ENST00000436259p.I528Vc.1582A>GSubstitution - Missense
ANKFY1ENSG00000185722ENST00000433651p.E380Ec.1140A>GSubstitution - coding silent
DCCENSG00000187323ENST00000412726p.?c.685-10T>GUnknown
LSM14BENSG00000149657ENST00000400318p.P202Hc.605C>ASubstitution - Missense
ZBP1ENSG00000124256ENST00000343535p.Q108Kc.322C>ASubstitution - Missense
CTCFLENSG00000124092ENST00000423479p.K32Ec.94A>GSubstitution - Missense
CTCFLENSG00000124092ENST00000426658p.K32Ec.94A>GSubstitution - Missense
MROH8ENSG00000101353ENST00000400440p.L167Lc.501C>ASubstitution - coding silent
ARHGAP35ENSG00000160007ENST00000404338p.E1017Ec.3051G>ASubstitution - coding silent
HDAC4ENSG00000068024ENST00000541256p.R678Cc.2032C>TSubstitution - Missense
DIS3L2ENSG00000144535ENST00000360410p.F80Cc.239T>GSubstitution - Missense
DIS3L2ENSG00000144535ENST00000409401p.F80Cc.239T>GSubstitution - Missense
DHRS9ENSG00000073737ENST00000432060p.N171Sc.512A>GSubstitution - Missense
B3GALT5ENSG00000183778ENST00000380620p.K122Tc.365A>CSubstitution - Missense
ENST00000310397_v70p.P338Lc.1013C>TSubstitution - Missense
ADD1ENSG00000087274ENST00000398125p.D205Gc.614A>GSubstitution - Missense
KIAA1109ENSG00000138688ENST00000455637p.Q1028Qc.3084A>GSubstitution - coding silent
CACNA1EENSG00000198216ENST00000357570p.?c.3465+9T>GUnknown
USP15ENSG00000135655ENST00000393654p.?c.2495+2T>CUnknown
SYTL3ENSG00000164674ENST00000297239p.E297Vc.890A>TSubstitution - Missense
SYTL3ENSG00000164674ENST00000297239p.M298Lc.892A>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.Q7106Hc.21318A>CSubstitution - Missense
AGBL3ENSG00000146856ENST00000458078p.C554*c.1662C>ASubstitution - Nonsense
DNAH8ENSG00000124721ENST00000449981p.A263Ec.788C>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.F1664Lc.4990T>CSubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.?c.4985-7T>GUnknown
ABCB8ENSG00000197150ENST00000542328p.D230Dc.690C>TSubstitution - coding silent
ABCB8ENSG00000197150ENST00000356058p.D355Dc.1065C>TSubstitution - coding silent
DGKBENSG00000136267ENST00000258767p.A185Vc.554C>TSubstitution - Missense
TEX10ENSG00000136891ENST00000535814p.R663Rc.1989A>GSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000050961p.A745Ac.2235C>ASubstitution - coding silent
CACNA1BENSG00000148408ENST00000277549p.E922Dc.2766G>CSubstitution - Missense
C9orf131ENSG00000174038ENST00000421362p.D62Dc.186C>TSubstitution - coding silent
ENST00000242630p.F93Fc.279T>CSubstitution - coding silent
L3MBTL4ENSG00000154655ENST00000400105p.A107Ac.321G>ASubstitution - coding silent
SAFB2ENSG00000130254ENST00000252542p.T950Pc.2848A>CSubstitution - Missense
GALNT8ENSG00000130035ENST00000252318p.H121Yc.361C>TSubstitution - Missense
ENST00000545858p.P59Lc.176C>TSubstitution - Missense
ARHGEF11ENSG00000132694ENST00000368194p.?c.2489-10C>TUnknown
OBSCNENSG00000154358ENST00000570156p.K6562Kc.19686G>ASubstitution - coding silent
SORL1ENSG00000137642ENST00000260197p.T1946Ic.5837C>TSubstitution - Missense
ENST00000328974p.N184Nc.552C>TSubstitution - coding silent
DNAH14ENSG00000185842ENST00000445597p.A696Tc.2086G>ASubstitution - Missense
MYCBP2ENSG00000005810ENST00000407578p.?c.945+10A>GUnknown
ENST00000449000p.E47Kc.139G>ASubstitution - Missense
GSK3BENSG00000082701ENST00000316626p.R332Hc.995G>ASubstitution - Missense
PRB2ENSG00000121335ENST00000389362p.L3Vc.7T>GSubstitution - Missense
FERMT3ENSG00000149781ENST00000345728p.R107Rc.321C>ASubstitution - coding silent
MARK2ENSG00000072518ENST00000509502p.D289Dc.867C>TSubstitution - coding silent
ALPK3ENSG00000136383ENST00000258888p.P944Sc.2830C>TSubstitution - Missense
SPG11ENSG00000104133ENST00000558319p.L505Lc.1515C>GSubstitution - coding silent
PICALMENSG00000073921ENST00000532317p.A540Ac.1620T>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369354p.K2307Kc.6921G>ASubstitution - coding silent
SPATA31D1ENSG00000214929ENST00000344803p.R121Rc.363T>ASubstitution - coding silent
HECW1ENSG00000002746ENST00000395891p.S527Sc.1581G>ASubstitution - coding silent
PASD1ENSG00000166049ENST00000370357p.E636Dc.1908G>TSubstitution - Missense
FATE1ENSG00000147378ENST00000370350p.?c.107-3T>CUnknown
KIF20AENSG00000112984ENST00000394894p.D103Nc.307G>ASubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.A3856Sc.11566G>TSubstitution - Missense
PCDHB6ENSG00000113211ENST00000231136p.A506Vc.1517C>TSubstitution - Missense
FNDC9ENSG00000172568ENST00000312349p.P102Lc.305C>TSubstitution - Missense
SLC36A2ENSG00000186335ENST00000335244p.L387Lc.1161C>ASubstitution - coding silent
PCDHGA1ENSG00000204956ENST00000378105p.E276Dc.828A>CSubstitution - Missense
C7orf66ENSG00000205174ENST00000379007p.M1Lc.1A>CSubstitution - Missense
ENST00000539307p.A33Sc.97G>TSubstitution - Missense
OR12D2ENSG00000168787ENST00000383555p.F224fs*8c.670_671insCInsertion - Frameshift
DDX56ENSG00000136271ENST00000258772p.A168Ac.504T>CSubstitution - coding silent
CRYGNENSG00000127377ENST00000337323p.?c.416+4A>CUnknown
GIMAP8ENSG00000171115ENST00000307271p.L31Pc.92T>CSubstitution - Missense
GIMAP8ENSG00000171115ENST00000307271p.G244Gc.732G>TSubstitution - coding silent
DGKBENSG00000136267ENST00000403951p.A185Vc.554C>TSubstitution - Missense
ENST00000316490_v65p.E4254Ac.12761A>CSubstitution - Missense
RGS22ENSG00000132554ENST00000360863p.I538Ic.1614T>CSubstitution - coding silent
MCM7ENSG00000166508ENST00000354230p.R106Cc.316C>TSubstitution - Missense
PALB2ENSG00000083093ENST00000261584p.G165Gc.495C>TSubstitution - coding silent
DNASE1L2ENSG00000167968ENST00000320700p.K133Nc.399G>TSubstitution - Missense
ENST00000319396p.G1632Rc.4894G>ASubstitution - Missense
ZNF333ENSG00000160961ENST00000292530p.A537Tc.1609G>ASubstitution - Missense
PTGER1ENSG00000160951ENST00000292513p.C309Yc.926G>ASubstitution - Missense
MATN4ENSG00000124159ENST00000372756p.?c.644-4T>CUnknown
JPH2ENSG00000149596ENST00000372980p.G334Sc.1000G>ASubstitution - Missense
ENST00000373135_v70p.D96Nc.286G>ASubstitution - Missense
L3MBTL1ENSG00000185513ENST00000373134p.D96Nc.286G>ASubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.V285Vc.855G>ASubstitution - coding silent
ELFN1ENSG00000225968ENST00000424383p.E791Vc.2372A>TSubstitution - Missense
NM_020416.2p.D323Hc.967G>CSubstitution - Missense
KIAA1211ENSG00000109265ENST00000264229p.P946Lc.2837C>TSubstitution - Missense
SCFD2ENSG00000184178ENST00000401642p.S591Sc.1773C>TSubstitution - coding silent
IFIH1ENSG00000115267ENST00000263642p.F744Lc.2232T>ASubstitution - Missense
ZNF280AENSG00000169548ENST00000302097p.N262Tc.785A>CSubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
ENST00000400460p.T105Tc.315C>GSubstitution - coding silent
DLC1ENSG00000164741ENST00000316609p.K223Ec.667A>GSubstitution - Missense
DLC1ENSG00000164741ENST00000511869p.K223Ec.667A>GSubstitution - Missense
LRRC6ENSG00000129295ENST00000250173p.R155Mc.464G>TSubstitution - Missense
KIAA1456ENSG00000250305ENST00000524591p.S25Sc.75C>TSubstitution - coding silent
KLHL38ENSG00000175946ENST00000325995p.P277Rc.830C>GSubstitution - Missense
UBR3ENSG00000144357ENST00000418381p.V866Vc.2598C>TSubstitution - coding silent
ABCB11ENSG00000073734ENST00000263817p.A672Ac.2016A>TSubstitution - coding silent
XIRP2ENSG00000163092ENST00000295237p.D1161Nc.3481G>ASubstitution - Missense
SCN1AENSG00000144285ENST00000303395p.E1448Dc.4344A>CSubstitution - Missense
SCN2AENSG00000136531ENST00000375427p.R607*c.1819C>TSubstitution - Nonsense
ENST00000373969p.I749Ic.2247C>TSubstitution - coding silent
POLE3ENSG00000148229ENST00000374169p.?c.153-5C>GUnknown
ATP13A5ENSG00000187527ENST00000342358p.L1203Vc.3607C>GSubstitution - Missense
VEGFCENSG00000150630ENST00000280193p.I224Lc.670A>CSubstitution - Missense
KIAA0947ENSG00000164151ENST00000296564p.A807Gc.2420C>GSubstitution - Missense
DDX41ENSG00000183258ENST00000507955p.A555Ac.1665C>TSubstitution - coding silent
HSP90AB1ENSG00000096384ENST00000371646p.E257Qc.769G>CSubstitution - Missense
ZNF318ENSG00000171467ENST00000361428p.S1544Nc.4631G>ASubstitution - Missense
TNXBENSG00000168477ENST00000375244p.P1832Qc.5495C>ASubstitution - Missense
GPR115ENSG00000153294ENST00000371220p.N612Yc.1834A>TSubstitution - Missense
ENST00000454161p.V453Vc.1359G>ASubstitution - coding silent
OR8J1ENSG00000172487ENST00000303039p.S188Sc.564T>GSubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.P152Lc.455C>TSubstitution - Missense
THY1ENSG00000154096ENST00000524970p.V120Ic.358G>ASubstitution - Missense
USP15ENSG00000135655ENST00000280377p.?c.2570+2T>CUnknown
NBEAL2ENSG00000160796ENST00000450053p.?c.7224+2T>CUnknown
NBEAL2ENSG00000160796ENST00000292309p.?c.5355+2T>CUnknown
ENST00000238522p.N1737Yc.5209A>TSubstitution - Missense
CACNA1BENSG00000148408ENST00000371372p.E1728Dc.5184G>CSubstitution - Missense
CACNA1BENSG00000148408ENST00000371365p.E92Dc.276G>CSubstitution - Missense
SLC26A5ENSG00000170615ENST00000306312p.P742Lc.2225C>TSubstitution - Missense
SRRM2ENSG00000167978ENST00000301740p.S854Sc.2562C>TSubstitution - coding silent
HS3ST4ENSG00000182601ENST00000331351p.L437Vc.1309T>GSubstitution - Missense
BAXENSG00000087088ENST00000345358p.T140Tc.420A>GSubstitution - coding silent
DHDHENSG00000104808ENST00000221403p.E112Dc.336G>CSubstitution - Missense
CARD8ENSG00000105483ENST00000391898p.R519Ic.1556G>TSubstitution - Missense
NM_014959.1p.R413Ic.1238G>TSubstitution - Missense
RELBENSG00000104856ENST00000221452p.G36Gc.108G>ASubstitution - coding silent
STX1BENSG00000099365ENST00000215095p.A135Ac.405G>TSubstitution - coding silent
STXBP5LENSG00000145087ENST00000273666p.N705Tc.2114A>CSubstitution - Missense
FSTL1ENSG00000163430ENST00000295633p.L196Lc.588C>ASubstitution - coding silent
TMPRSS7ENSG00000176040ENST00000419127p.C173fs*6c.516delCDeletion - Frameshift
ENST00000313614p.C28fs*6c.81delCDeletion - Frameshift
SLC6A19ENSG00000174358ENST00000304460p.R240*c.718C>TSubstitution - Nonsense
ADD1ENSG00000087274ENST00000264758p.D205Gc.614A>GSubstitution - Missense
PCSK1ENSG00000175426ENST00000311106p.E698Ec.2094A>GSubstitution - coding silent
SEMA5AENSG00000112902ENST00000382496p.W787Cc.2361G>CSubstitution - Missense
EP300ENSG00000100393ENST00000263253p.?c.730-10T>CUnknown
ATF4ENSG00000128272ENST00000396680p.V201Vc.603T>ASubstitution - coding silent
DSTENSG00000151914ENST00000244364p.Q1170Hc.3510G>CSubstitution - Missense
DSTENSG00000151914ENST00000244364p.E3852Kc.11554G>ASubstitution - Missense
ROS1ENSG00000047936ENST00000368508p.D1853Ac.5558A>CSubstitution - Missense
ROS1ENSG00000047936ENST00000368507p.D1847Ac.5540A>CSubstitution - Missense
COL10A1ENSG00000123500ENST00000327673p.Q252Hc.756A>CSubstitution - Missense
FYNENSG00000010810ENST00000368682p.N241Dc.721A>GSubstitution - Missense
TRPS1ENSG00000104447ENST00000395715p.N13Nc.39T>CSubstitution - coding silent
CSMD3ENSG00000164796ENST00000343508p.E2209Qc.6625G>CSubstitution - Missense
KHDC1ENSG00000135314ENST00000257765p.R68Hc.203G>ASubstitution - Missense
RREB1ENSG00000124782ENST00000379938p.N1650Nc.4950C>TSubstitution - coding silent
RREB1ENSG00000124782ENST00000379933p.N1595Nc.4785C>TSubstitution - coding silent
COL9A1ENSG00000112280ENST00000357250p.G403Sc.1207G>ASubstitution - Missense
FAM135AENSG00000082269ENST00000370479p.A194Ac.582G>CSubstitution - coding silent
LMBRD1ENSG00000168216ENST00000370577p.Y99Yc.297C>TSubstitution - coding silent
TEX10ENSG00000136891ENST00000374902p.R660Rc.1980A>GSubstitution - coding silent
ALDH8A1ENSG00000118514ENST00000265605p.I483Ic.1449C>ASubstitution - coding silent
ENST00000432934p.Y479Yc.1437C>TSubstitution - coding silent
LAMA2ENSG00000196569ENST00000421865p.D2513Vc.7538A>TSubstitution - Missense
PTPRKENSG00000152894ENST00000368226p.L126Fc.378A>CSubstitution - Missense
NDUFAF7ENSG00000003509ENST00000002125p.L202_V205delLHDVc.603_614del12Deletion - In frame
TRPV1ENSG00000196689ENST00000174621p.V456Vc.1368G>TSubstitution - coding silent
SLFN12LENSG00000205045ENST00000449046p.I473Mc.1419C>GSubstitution - Missense
SLFN12LENSG00000205045ENST00000361112p.I471Mc.1413C>GSubstitution - Missense
RAD51DENSG00000185379ENST00000335858p.?c.568-2A>TUnknown
STON1-GTF2A1LENSG00000068781ENST00000394754p.L729Lc.2187A>TSubstitution - coding silent
FBXO11ENSG00000138081ENST00000403359p.?c.2556-4T>GUnknown
FBXO11ENSG00000138081ENST00000402508p.?c.2304-4T>GUnknown
HSD17B1ENSG00000108786ENST00000225929p.H18Qc.54C>GSubstitution - Missense
KRT16ENSG00000186832ENST00000301653p.M370Vc.1108A>GSubstitution - Missense
SLITRK3ENSG00000121871ENST00000241274p.F899Lc.2697T>ASubstitution - Missense
GGNENSG00000179168ENST00000334928p.T649Tc.1947C>TSubstitution - coding silent
SEC16AENSG00000148396ENST00000313050p.L1871*c.5612T>ASubstitution - Nonsense
NM_014866.1p.L1871*c.5612T>ASubstitution - Nonsense
OLFM1ENSG00000130558ENST00000252854p.H328Qc.984C>GSubstitution - Missense
OLFM1ENSG00000130558ENST00000252854p.G345Rc.1033G>ASubstitution - Missense
COL5A1ENSG00000130635ENST00000371817p.P576Sc.1726C>TSubstitution - Missense
VAV2ENSG00000160293ENST00000371850p.R660Qc.1979G>ASubstitution - Missense
SU_SgK071p.S304Lc.911C>TSubstitution - Missense
CSF1RENSG00000182578ENST00000286301p.L769Lc.2307C>TSubstitution - coding silent
SPATA31D1ENSG00000214929ENST00000344803p.R121Rc.363T>ASubstitution - coding silent
ENST00000318252p.F1393Lc.4177T>CSubstitution - Missense
ENST00000318252p.?c.4172-7T>GUnknown
NM_152632.1p.G6Dc.17G>ASubstitution - Missense
ZNF837ENSG00000152475ENST00000427624p.F512Fc.1536C>TSubstitution - coding silent
FUT5ENSG00000130383ENST00000252675p.V234Mc.700G>ASubstitution - Missense
ZNF274ENSG00000171606ENST00000326804p.M459Lc.1375A>TSubstitution - Missense
ZNF274ENSG00000171606ENST00000345813p.M427Lc.1279A>TSubstitution - Missense
BSGENSG00000172270ENST00000346916p.G89Cc.265G>TSubstitution - Missense
ZNF304ENSG00000131845ENST00000282286p.N140Sc.419A>GSubstitution - Missense
STACENSG00000144681ENST00000273183p.H178Rc.533A>GSubstitution - Missense
AFF3ENSG00000144218ENST00000356421p.A1184Pc.3550G>CSubstitution - Missense
SHANK3ENSG00000251322ENST00000262795p.P372Lc.1115C>TSubstitution - Missense
SLC16A5ENSG00000170190ENST00000450736p.A430Ac.1290G>ASubstitution - coding silent
SLC16A5ENSG00000170190ENST00000580123p.A430Ac.1290G>ASubstitution - coding silent
NM_003985p.S543Sc.1629C>ASubstitution - coding silent
FEM1CENSG00000145780ENST00000274457p.V99Vc.297C>GSubstitution - coding silent
KCNN2ENSG00000080709ENST00000264773p.?c.1254+1G>AUnknown
KCNN2ENSG00000080709ENST00000503706p.?c.210+1G>AUnknown
KCNN2ENSG00000080709ENST00000512097p.V419Ic.1255G>ASubstitution - Missense
YTHDC2ENSG00000047188ENST00000161863p.?c.675+4T>AUnknown
SLCO6A1ENSG00000205359ENST00000379807p.L360Pc.1079T>CSubstitution - Missense
DPEP2ENSG00000167261ENST00000393847p.?c.663-5T>CUnknown
CES2ENSG00000172831ENST00000317091p.?c.1247_1249-3del121Unknown
IL12AENSG00000168811ENST00000305579p.T242Ic.725C>TSubstitution - Missense
SUCNR1ENSG00000198829ENST00000362032p.K125fs*16c.375_378delGTATDeletion - Frameshift
CPENSG00000047457ENST00000264613p.V899Vc.2697T>CSubstitution - coding silent
ENST00000273083p.R7Wc.19C>TSubstitution - Missense
RETSATENSG00000042445ENST00000295802p.A467Tc.1399G>ASubstitution - Missense
RETSATENSG00000042445ENST00000295802p.T466Sc.1397C>GSubstitution - Missense
KIAA1109ENSG00000138688ENST00000264501p.Q1028Qc.3084A>GSubstitution - coding silent
ENPEPENSG00000138792ENST00000265162p.L595Lc.1783T>CSubstitution - coding silent
SYNE1ENSG00000131018ENST00000423061p.Q7106Hc.21318A>CSubstitution - Missense
UTRNENSG00000152818ENST00000367545p.L2783Rc.8348T>GSubstitution - Missense
GPR126ENSG00000112414ENST00000296932p.F786Sc.2357T>CSubstitution - Missense
GPR126ENSG00000112414ENST00000296932p.?c.2952-4T>CUnknown
RXFP3ENSG00000182631ENST00000330120p.Q432Rc.1295A>GSubstitution - Missense
CDH12ENSG00000154162ENST00000382254p.?c.1003-1G>AUnknown
TRIM41ENSG00000146063ENST00000315073p.Y122Hc.364T>CSubstitution - Missense
TRIM41ENSG00000146063ENST00000351937p.Y122Hc.364T>CSubstitution - Missense
TBC1D9BENSG00000197226ENST00000356834p.A618Tc.1852G>ASubstitution - Missense
PARK2ENSG00000185345ENST00000366892p.K129Kc.387G>ASubstitution - coding silent
SERAC1ENSG00000122335ENST00000367104p.R645Cc.1933C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.Q7177Hc.21531A>CSubstitution - Missense
CRHR2ENSG00000106113ENST00000348438p.R411Qc.1232G>ASubstitution - Missense
CRHR2ENSG00000106113ENST00000471646p.R384Qc.1151G>ASubstitution - Missense
SP8ENSG00000164651ENST00000418710p.K392Qc.1174A>CSubstitution - Missense
IRAK1ENSG00000184216ENST00000369980p.V586Mc.1756G>ASubstitution - Missense
GREB1ENSG00000196208ENST00000381486p.A380Ac.1140C>TSubstitution - coding silent
GREB1ENSG00000196208ENST00000381483p.A380Ac.1140C>TSubstitution - coding silent
GREB1ENSG00000196208ENST00000381486p.V122Vc.366C>GSubstitution - coding silent
GREB1ENSG00000196208ENST00000381483p.V122Vc.366C>GSubstitution - coding silent
GREB1ENSG00000196208ENST00000263834p.V122Vc.366C>GSubstitution - coding silent
DIS3L2ENSG00000144535ENST00000325385p.F80Cc.239T>GSubstitution - Missense
SP110ENSG00000135899ENST00000258381p.T117Tc.351A>GSubstitution - coding silent
DNERENSG00000187957ENST00000341772p.T243Tc.729G>ASubstitution - coding silent
COL6A3ENSG00000163359ENST00000295550p.G672Vc.2015G>TSubstitution - Missense
LGALSLENSG00000119862ENST00000238875p.I157Vc.469A>GSubstitution - Missense
CCT4ENSG00000115484ENST00000394440p.V390Fc.1168G>TSubstitution - Missense
ODF3BENSG00000177989ENST00000329363p.A186Tc.556G>ASubstitution - Missense
CELSR1ENSG00000075275ENST00000262738p.T1204Sc.3611C>GSubstitution - Missense
NM_148674.1p.R1212Qc.3635G>ASubstitution - Missense
SMC1BENSG00000077935ENST00000357450p.R1210Qc.3629G>ASubstitution - Missense
KBTBD12ENSG00000187715ENST00000405256p.F299Lc.897T>GSubstitution - Missense
HOMER1ENSG00000152413ENST00000334082p.T153Pc.457A>CSubstitution - Missense
FHOD3ENSG00000134775ENST00000257209p.?c.1310+8C>GUnknown
ZNF24ENSG00000172466ENST00000399061p.N358Nc.1074T>CSubstitution - coding silent
B3GALT5ENSG00000183778ENST00000380618p.K122Tc.365A>CSubstitution - Missense
ARL13BENSG00000169379ENST00000394222p.Y406Cc.1217A>GSubstitution - Missense
RAD18ENSG00000070950ENST00000264926p.E458Dc.1374A>CSubstitution - Missense
PPP4R2ENSG00000163605ENST00000356692p.E362Dc.1086A>TSubstitution - Missense
ENST00000420871_v68p.R852Hc.2555G>ASubstitution - Missense
ANKRD36CENSG00000174501ENST00000420871p.R852Hc.2555G>ASubstitution - Missense
GLYR1ENSG00000140632ENST00000321919p.N109Hc.325A>CSubstitution - Missense
FBXO47ENSG00000204952ENST00000378079p.L352Pc.1055T>CSubstitution - Missense
PAPD5ENSG00000121274ENST00000436909p.A170Vc.509C>TSubstitution - Missense
MIS18AENSG00000159055ENST00000290130p.D189Yc.565G>TSubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.L200Lc.598T>CSubstitution - coding silent
KRT37ENSG00000108417ENST00000225550p.?c.1241+2T>AUnknown
KRT33AENSG00000006059ENST00000007735p.E111Ec.333G>ASubstitution - coding silent
KRTAP9-1ENSG00000240542ENST00000398470p.C143Cc.429C>TSubstitution - coding silent
KRT10ENSG00000186395ENST00000269576p.S97_I101>GSc.289_331>34Complex - deletion inframe
ENST00000315574p.D598Dc.1794C>TSubstitution - coding silent
WDR19ENSG00000157796ENST00000399820p.K137Rc.410A>GSubstitution - Missense
HIST1H1EENSG00000168298ENST00000304218p.L84Lc.252C>TSubstitution - coding silent
STAB1ENSG00000010327ENST00000321725p.R813Qc.2438G>ASubstitution - Missense
ENST00000242365_v65p.F956Lc.2868C>GSubstitution - Missense
SVOPLENSG00000157703ENST00000288513p.A88Vc.263C>TSubstitution - Missense
AGBL3ENSG00000146856ENST00000436302p.C580*c.1740C>ASubstitution - Nonsense
NM_004133.3p.?c.505-7C>TUnknown
ENST00000360191p.Y142Hc.424T>CSubstitution - Missense
SU_NRBP2p.R401Cc.1201C>TSubstitution - Missense
KATNAL2ENSG00000167216ENST00000245121p.?c.235-3C>TUnknown
LOXHD1ENSG00000167210ENST00000536736p.P384Lc.1151C>TSubstitution - Missense
LOXHD1ENSG00000167210ENST00000398722p.P106Lc.317C>TSubstitution - Missense
KIR3DL1ENSG00000167633ENST00000402254p.Q277Kc.829C>ASubstitution - Missense
CEP192ENSG00000101639ENST00000506447p.G1888Gc.5664C>TSubstitution - coding silent
POFUT1ENSG00000101346ENST00000375749p.Y234Sc.701A>CSubstitution - Missense
ENST00000356127p.S17789Rc.53365A>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.N23676Kc.71028C>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.N17304Kc.51912C>GSubstitution - Missense
ENST00000356127p.N23674Kc.71022C>GSubstitution - Missense
NM_003319p.N17179Kc.51537C>GSubstitution - Missense
TTNENSG00000155657ENST00000359218p.F20729Vc.62185T>GSubstitution - Missense
TTNENSG00000155657ENST00000342175p.F20796Vc.62386T>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.A26901Vc.80702C>TSubstitution - Missense
ENST00000356127p.A26899Vc.80696C>TSubstitution - Missense
ADCY3ENSG00000138031ENST00000260600p.D811Nc.2431G>ASubstitution - Missense
DNAH7ENSG00000118997ENST00000312428p.A3933Tc.11797G>ASubstitution - Missense
ZNF28ENSG00000198538ENST00000438150p.S170Sc.510C>TSubstitution - coding silent
ZNF600ENSG00000189190ENST00000360272p.S170Sc.510C>TSubstitution - coding silent
DNAH9ENSG00000007174ENST00000262442p.I222Mc.666C>GSubstitution - Missense
MYH8ENSG00000133020ENST00000403437p.?c.4653+8T>CUnknown
MC1RENSG00000258839ENST00000555147p.R67Qc.200G>ASubstitution - Missense
DPEP1ENSG00000015413ENST00000261615p.I33Tc.98T>CSubstitution - Missense
TMEM186ENSG00000184857ENST00000333050p.G108Vc.323G>TSubstitution - Missense
NUDT16L1ENSG00000168101ENST00000304301p.A94Ac.282C>GSubstitution - coding silent
NUDT16L1ENSG00000168101ENST00000405142p.A94Ac.282C>GSubstitution - coding silent
DRG1ENSG00000185721ENST00000331457p.?c.714-391_882-103del734Unknown
EFHBENSG00000163576ENST00000295824p.R826Qc.2477G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A1662Tc.4984G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H1661Dc.4981C>GSubstitution - Missense
HEATR5BENSG00000008869ENST00000233099p.V1431Vc.4293G>ASubstitution - coding silent
CRIM1ENSG00000150938ENST00000280527p.V455Vc.1365G>TSubstitution - coding silent
TRAPPC12ENSG00000171853ENST00000382110p.G255Rc.763G>ASubstitution - Missense
SLC30A6ENSG00000152683ENST00000282587p.T257Tc.771A>CSubstitution - coding silent
MTTPENSG00000138823ENST00000265517p.A232Vc.695C>TSubstitution - Missense
SLC4A7ENSG00000033867ENST00000455077p.P1106Hc.3317C>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.F1664Lc.4990T>CSubstitution - Missense
PAQR5ENSG00000137819ENST00000395407p.F205Fc.615C>TSubstitution - coding silent
IGDCC3ENSG00000174498ENST00000327987p.R805Wc.2413C>TSubstitution - Missense
CARS2ENSG00000134905ENST00000257347p.R512Qc.1535G>ASubstitution - Missense
FAM69AENSG00000154511ENST00000370310p.S380Rc.1140T>GSubstitution - Missense
ZFYVE19ENSG00000166140ENST00000355341p.?c.572-7A>GUnknown
ZFYVE19ENSG00000166140ENST00000336455p.?c.542-7A>GUnknown
SACSENSG00000151835ENST00000382298p.I709Vc.2125A>GSubstitution - Missense
CDC27ENSG00000004897ENST00000531206p.Y502*c.1506C>ASubstitution - Nonsense
GSE1ENSG00000131149ENST00000253458p.R365Hc.1094G>ASubstitution - Missense
TMEM92ENSG00000167105ENST00000300433p.P86Lc.257C>TSubstitution - Missense
SSTR4ENSG00000132671ENST00000255008p.E342Gc.1025A>GSubstitution - Missense
BFSP1ENSG00000125864ENST00000377873p.?c.956+6C>AUnknown
BFSP1ENSG00000125864ENST00000377868p.?c.581+6C>AUnknown
CPS1ENSG00000021826ENST00000233072p.?c.3559-5_3583>29Unknown
MCMDC2ENSG00000178460ENST00000422365p.A494Tc.1480G>ASubstitution - Missense
NM_144650.1p.A238Ac.714G>ASubstitution - coding silent
ADHFE1ENSG00000147576ENST00000396623p.A286Ac.858G>ASubstitution - coding silent
GLUD2ENSG00000182890ENST00000328078p.K457Kc.1371A>GSubstitution - coding silent
KIAA1210ENSG00000250423ENST00000402510p.K510Nc.1530G>TSubstitution - Missense
XM_172801.3p.K334Nc.1002G>TSubstitution - Missense
FBN3ENSG00000142449ENST00000270509p.R349Wc.1045C>TSubstitution - Missense
ENST00000327867p.T496Tc.1488T>GSubstitution - coding silent
UNC13DENSG00000092929ENST00000207549p.R645Qc.1934G>ASubstitution - Missense
ITGB4ENSG00000132470ENST00000200181p.P1050Ac.3148C>GSubstitution - Missense
TRIM16LENSG00000108448ENST00000395902p.S45Sc.135G>ASubstitution - coding silent
CCDC144AENSG00000170160ENST00000456009p.T863Tc.2589G>ASubstitution - coding silent
DLGAP4ENSG00000080845ENST00000373913p.S652fs*1c.1953_1954delCTDeletion - Frameshift
LIM2ENSG00000105370ENST00000221973p.R172Hc.515G>ASubstitution - Missense
KDM4BENSG00000127663ENST00000159111p.A550Tc.1648G>ASubstitution - Missense
VWDEENSG00000146530ENST00000275358p.E313Kc.937G>ASubstitution - Missense
LSM14BENSG00000149657ENST00000279068p.P176Hc.527C>ASubstitution - Missense
GNASENSG00000087460ENST00000313949p.R14Cc.40C>TSubstitution - Missense
ZBP1ENSG00000124256ENST00000541799p.Q108Kc.322C>ASubstitution - Missense
ZNFX1ENSG00000124201ENST00000396105p.I1079Ic.3237T>CSubstitution - coding silent
ZNFX1ENSG00000124201ENST00000371752p.I1079Ic.3237T>CSubstitution - coding silent
ZNFX1ENSG00000124201ENST00000371754p.I1079Ic.3237T>CSubstitution - coding silent
CSE1LENSG00000124207ENST00000262982p.K217fs*6c.648delADeletion - Frameshift
ENST00000343811_v68p.L163Lc.489C>ASubstitution - coding silent
MROH8ENSG00000101353ENST00000400441p.H137Nc.409C>ASubstitution - Missense
PRSS3ENSG00000010438ENST00000342836p.T81Ic.242C>TSubstitution - Missense
PRSS3ENSG00000010438ENST00000379405p.T67Ic.200C>TSubstitution - Missense
SMU1ENSG00000122692ENST00000397149p.?c.630+4G>AUnknown
CALUENSG00000128595ENST00000249364p.Y106Yc.318C>TSubstitution - coding silent
RBM28ENSG00000106344ENST00000223073p.M176Ic.528G>ASubstitution - Missense
HESX1ENSG00000163666ENST00000295934p.C19Yc.56G>ASubstitution - Missense
APPL1ENSG00000157500ENST00000288266p.R412Qc.1235G>ASubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.E416Kc.1246G>ASubstitution - Missense
ERC2ENSG00000187672ENST00000288221p.E416Kc.1246G>ASubstitution - Missense
GDAENSG00000119125ENST00000358399p.S304Fc.911C>TSubstitution - Missense
GDAENSG00000119125ENST00000238018p.S304Fc.911C>TSubstitution - Missense
KANK1ENSG00000107104ENST00000382286p.A239Tc.715G>ASubstitution - Missense
ENST00000318252p.T1786Mc.5357C>TSubstitution - Missense
CHRNA2ENSG00000120903ENST00000407991p.?c.73+4_73+7delagtgUnknown
NUDT18ENSG00000173566ENST00000309188p.?c.377-6C>TUnknown
EFCAB3ENSG00000172421ENST00000305286p.G175Ec.524G>ASubstitution - Missense
WSB1ENSG00000109046ENST00000262394p.D322Nc.964G>ASubstitution - Missense
KCNJ12ENSG00000184185ENST00000331718p.N379Nc.1137C>TSubstitution - coding silent
DSC2ENSG00000134755ENST00000280904p.A897Ac.2691A>GSubstitution - coding silent
TBCDENSG00000141556ENST00000355528p.E1007Ac.3020A>CSubstitution - Missense
ZNF627ENSG00000198551ENST00000361113p.E354*c.1060G>TSubstitution - Nonsense
CARM1ENSG00000142453ENST00000327064p.S529Sc.1587C>TSubstitution - coding silent
DLGAP1ENSG00000170579ENST00000315677p.D572Dc.1716C>TSubstitution - coding silent
DLGAP1ENSG00000170579ENST00000539435p.D280Dc.840C>TSubstitution - coding silent
DLGAP1ENSG00000170579ENST00000534970p.D256Dc.768C>TSubstitution - coding silent
DNAH3ENSG00000158486ENST00000261383p.F2552Lc.7654T>CSubstitution - Missense
CCDC176ENSG00000119636ENST00000394009p.R54Hc.161G>ASubstitution - Missense
ZNF410ENSG00000119725ENST00000555044p.S435Sc.1305T>GSubstitution - coding silent
ENST00000426033p.V444Vc.1332G>ASubstitution - coding silent
SYNMENSG00000182253ENST00000336292p.G607Sc.1819G>ASubstitution - Missense
RGMAENSG00000182175ENST00000557301p.P455Sc.1363C>TSubstitution - Missense
SNW1ENSG00000100603ENST00000261531p.R400Qc.1199G>ASubstitution - Missense
DLSTENSG00000119689ENST00000334220p.A207Ac.621C>TSubstitution - coding silent
ARID5BENSG00000150347ENST00000279873p.Q632Qc.1896G>ASubstitution - coding silent
PCDH15ENSG00000150275ENST00000361849p.G1081Ec.3242G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000395438p.G1081Ec.3242G>ASubstitution - Missense
ENST00000417177p.G1086Ec.3257G>ASubstitution - Missense
PCDH15ENSG00000150275ENST00000414778p.G1086Ec.3257G>ASubstitution - Missense
PRKG1ENSG00000185532ENST00000373980p.G641fs*2c.1921delGDeletion - Frameshift
PRKG1ENSG00000185532ENST00000401604p.G626fs*2c.1876delGDeletion - Frameshift
C10orf71ENSG00000177354ENST00000323868p.H35Hc.105C>TSubstitution - coding silent
SLC22A12ENSG00000197891ENST00000377574p.S76Fc.227C>TSubstitution - Missense
CHRM1ENSG00000168539ENST00000306960p.Q165Qc.495G>ASubstitution - coding silent
CTPS1ENSG00000171793ENST00000372621p.R564Rc.1692G>ASubstitution - coding silent
OASLENSG00000135114ENST00000257570p.T261Sc.781A>TSubstitution - Missense
P2RX4ENSG00000135124ENST00000337233p.?c.427+5G>CUnknown
ENST00000242630p.R118Wc.352C>TSubstitution - Missense
SU_CRIKp.D240Gc.719A>GSubstitution - Missense
SU_KSR2p.K907Rc.2720A>GSubstitution - Missense
PRB2ENSG00000121335ENST00000389362p.L3Vc.7T>GSubstitution - Missense
PRB3ENSG00000197870ENST00000538488p.E142Kc.424G>ASubstitution - Missense
PRB3ENSG00000197870ENST00000381842p.E163Kc.487G>ASubstitution - Missense
TAS1R3ENSG00000169962ENST00000339381p.M430Tc.1289T>CSubstitution - Missense
SPG11ENSG00000104133ENST00000261866p.L505Lc.1515C>GSubstitution - coding silent
EHD4ENSG00000103966ENST00000220325p.S466Pc.1396T>CSubstitution - Missense
ENST00000357301p.P25Lc.74C>TSubstitution - Missense
NADKENSG00000008130ENST00000341991p.P93Pc.279C>TSubstitution - coding silent
SLC12A1ENSG00000074803ENST00000380993p.H1001Qc.3003T>ASubstitution - Missense
SEMA6DENSG00000137872ENST00000316364p.S891Nc.2672G>ASubstitution - Missense
FSCBENSG00000189139ENST00000340446p.Q611Qc.1833G>ASubstitution - coding silent
NPAS3ENSG00000151322ENST00000357798p.V321Vc.963C>GSubstitution - coding silent
NPAS3ENSG00000151322ENST00000346562p.V302Vc.906C>GSubstitution - coding silent
RHPN2ENSG00000131941ENST00000400226p.F220Fc.660C>TSubstitution - coding silent
IGFN1ENSG00000163395ENST00000335211p.L348fs*16c.1042delCDeletion - Frameshift
SHC1ENSG00000160691ENST00000448116p.A246Tc.736G>ASubstitution - Missense
CRTC2ENSG00000160741ENST00000368633p.?c.434+1G>AUnknown
TMCC2ENSG00000133069ENST00000330675p.A427Ac.1281G>ASubstitution - coding silent
FMODENSG00000122176ENST00000354955p.R155Tc.464G>CSubstitution - Missense
MYOGENSG00000122180ENST00000241651p.N21fs*22c.62delADeletion - Frameshift
TRIM66ENSG00000166436ENST00000299550p.F61Vc.181T>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.K2307Kc.6921G>ASubstitution - coding silent
PDE4DIPENSG00000178104ENST00000313382p.K2201Kc.6603G>ASubstitution - coding silent
NM_006312.2p.T1156Ic.3467C>TSubstitution - Missense
ATPIF1ENSG00000130770ENST00000335514p.?c.179_180-2del1384Unknown
OR2T6ENSG00000198104ENST00000355728p.M108Ic.324G>ASubstitution - Missense
UTS2ENSG00000049247ENST00000054668p.L42Lc.126G>ASubstitution - coding silent
UTS2ENSG00000049247ENST00000361696p.R27Rc.81G>ASubstitution - coding silent
UTS2ENSG00000049247ENST00000377516p.R27Rc.81G>ASubstitution - coding silent
ANKRD13CENSG00000118454ENST00000370944p.A102Tc.304G>ASubstitution - Missense
C1orf141ENSG00000203963ENST00000371007p.S285Fc.854C>TSubstitution - Missense
INADLENSG00000132849ENST00000371158p.L857Lc.2569C>TSubstitution - coding silent
SYNE2ENSG00000054654ENST00000358025p.G4077Vc.12230G>TSubstitution - Missense
ZNHIT6ENSG00000117174ENST00000370574p.V466Ic.1396G>ASubstitution - Missense
TLN2ENSG00000171914ENST00000306829p.F1392Lc.4176T>GSubstitution - Missense
SYNE3ENSG00000176438ENST00000334258p.A238Ec.713C>ASubstitution - Missense
IFI27L2ENSG00000119632ENST00000238609p.?c.199+5G>TUnknown
TRIP11ENSG00000100815ENST00000267622p.Q233Ec.697C>GSubstitution - Missense
CCDC88CENSG00000015133ENST00000389857p.L487Rc.1460T>GSubstitution - Missense
EML5ENSG00000165521ENST00000554922p.K1363Mc.4088A>TSubstitution - Missense
ZNF140ENSG00000196387ENST00000355557p.K355Kc.1065G>ASubstitution - coding silent
GOLGA3ENSG00000090615ENST00000545875p.A691Vc.2072C>TSubstitution - Missense
CCNT1ENSG00000129315ENST00000261900p.E497Ec.1491G>ASubstitution - coding silent
LIMA1ENSG00000050405ENST00000341247p.L90Vc.268C>GSubstitution - Missense
RACGAP1ENSG00000161800ENST00000427314p.L339Lc.1017G>TSubstitution - coding silent
KCNH3ENSG00000135519ENST00000257981p.D830Dc.2490C>TSubstitution - coding silent
C2CD3ENSG00000168014ENST00000334126p.K2242Ec.6724A>GSubstitution - Missense
ABHD2ENSG00000140526ENST00000352732p.S232Nc.695G>ASubstitution - Missense
NTRK3ENSG00000140538ENST00000360948p.L134Lc.402G>CSubstitution - coding silent
TTC40ENSG00000171811ENST00000368586p.L2486Pc.7457T>CSubstitution - Missense
ENST00000435957p.L69Pc.206T>CSubstitution - Missense
MKI67ENSG00000148773ENST00000368654p.M1085Kc.3254T>ASubstitution - Missense
EDRF1ENSG00000107938ENST00000337623p.S141Sc.423G>ASubstitution - coding silent
RABGGTAENSG00000100949ENST00000399409p.L448Lc.1344G>ASubstitution - coding silent
LRRC16BENSG00000186648ENST00000342740p.G1143Dc.3428G>ASubstitution - Missense
LRRC16BENSG00000186648ENST00000342740p.W1168*c.3504G>ASubstitution - Nonsense
KLHL33ENSG00000185271ENST00000344581p.R261Cc.781C>TSubstitution - Missense
KLHL33ENSG00000185271ENST00000344581p.R261Cc.781C>TSubstitution - Missense
OR4N2ENSG00000176294ENST00000315947p.A67Tc.199G>ASubstitution - Missense
OR4K2ENSG00000165762ENST00000298642p.T281Tc.843T>GSubstitution - coding silent
FAM160A2ENSG00000051009ENST00000265978p.V867Gc.2600T>GSubstitution - Missense
AF282265.1p.S269Sc.807G>ASubstitution - coding silent
MYRFENSG00000124920ENST00000265460p.I628Ic.1884C>TSubstitution - coding silent
CCDC86ENSG00000110104ENST00000227520p.R269Qc.806G>ASubstitution - Missense
OR52E6ENSG00000205409ENST00000379946p.H249Qc.747C>GSubstitution - Missense
OR52E6ENSG00000205409ENST00000329322p.H245Qc.735C>GSubstitution - Missense
VEZTENSG00000028203ENST00000436874p.?c.710+7T>AUnknown
TTC9CENSG00000162222ENST00000316461p.L45Vc.133C>GSubstitution - Missense
TXNRD1ENSG00000198431ENST00000525566p.V190Vc.570C>TSubstitution - coding silent
TXNRD1ENSG00000198431ENST00000503506p.V40Vc.120C>TSubstitution - coding silent
MYBPC1ENSG00000196091ENST00000361466p.E839Kc.2515G>ASubstitution - Missense
MYBPC1ENSG00000196091ENST00000360610p.E832Kc.2494G>ASubstitution - Missense
CHPT1ENSG00000111666ENST00000229266p.E347Kc.1039G>ASubstitution - Missense
SLC5A8ENSG00000256870ENST00000536262p.N228Tc.683A>CSubstitution - Missense
ANO4ENSG00000151572ENST00000538618p.V290Vc.870G>ASubstitution - coding silent
SCYL2ENSG00000136021ENST00000360820p.L101Rc.302T>GSubstitution - Missense
WDR96ENSG00000197748ENST00000357060p.?c.3245_3246+1delAGgUnknown
WDR96ENSG00000197748ENST00000357060p.I370Ic.1110C>TSubstitution - coding silent
SH3PXD2AENSG00000107957ENST00000355946p.V1030Mc.3088G>ASubstitution - Missense
PROSER1ENSG00000120685ENST00000352251p.?c.2562-10A>GUnknown
SLC48A1ENSG00000211584ENST00000442218p.T55Mc.164C>TSubstitution - Missense
MUC19ENSG00000205592ENST00000425730p.E1393*c.4177G>TSubstitution - Nonsense
SU_LRRK2p.Y2030Yc.6090C>TSubstitution - coding silent
ZMYM1ENSG00000197056ENST00000373330p.A51Tc.151G>ASubstitution - Missense
ENSG00000270149ENST00000289779p.?c.803-7C>GUnknown
TRPM1ENSG00000134160ENST00000397795p.R1248Wc.3742C>TSubstitution - Missense
ENST00000563027_v68p.S553Fc.1658C>TSubstitution - Missense
MAP7D1ENSG00000116871ENST00000373151p.R310Qc.929G>ASubstitution - Missense
PIK3C2AENSG00000011405ENST00000265970p.?c.2400-6G>AUnknown
MUC6ENSG00000184956ENST00000421673p.S2266Pc.6796T>CSubstitution - Missense
THY1ENSG00000154096ENST00000284240p.V120Ic.358G>ASubstitution - Missense
C2CD2LENSG00000172375ENST00000336702p.S684Sc.2052T>CSubstitution - coding silent
TMPRSS4ENSG00000137648ENST00000437212p.I291Ic.873C>TSubstitution - coding silent
ENST00000433634p.A218Ac.654C>TSubstitution - coding silent
C11orf53ENSG00000150750ENST00000280325p.Y65Hc.193T>CSubstitution - Missense
POU2AF1ENSG00000110777ENST00000393067p.A12Gc.35C>GSubstitution - Missense
DDI1ENSG00000170967ENST00000302259p.S173Sc.519C>TSubstitution - coding silent
NM_002426.1p.R91Qc.272G>ASubstitution - Missense
NM_004284.2p.?c.896-10T>AUnknown
NBPF10ENSG00000163386ENST00000342960p.H3510Nc.10528C>ASubstitution - Missense
DNAH3ENSG00000158486ENST00000261383p.F2552Lc.7654T>CSubstitution - Missense
KIAA0430ENSG00000166783ENST00000344181p.V643Ac.1928T>CSubstitution - Missense
UBR4ENSG00000127481ENST00000375254p.?c.13391-5C>TUnknown
HMCN1ENSG00000143341ENST00000271588p.S4827Sc.14481T>CSubstitution - coding silent
SU_caMLCKp.D514Hc.1540G>CSubstitution - Missense
ENST00000447890p.A590Ac.1770T>ASubstitution - coding silent
ENST00000414315p.P20Lc.59C>TSubstitution - Missense
CACNA1EENSG00000198216ENST00000367570p.?c.3612+9T>GUnknown
PLCG1ENSG00000124181ENST00000244007p.R1253Hc.3758G>ASubstitution - Missense
ENSG00000262304ENST00000572705p.V458Vc.1374G>TSubstitution - coding silent
TRPV1ENSG00000196689ENST00000399756p.V469Vc.1407G>TSubstitution - coding silent
CACNA1EENSG00000198216ENST00000367573p.?c.3612+9T>GUnknown
ENST00000316893p.R2133Qc.6398G>ASubstitution - Missense
RND1ENSG00000172602ENST00000309739p.T182Tc.546G>ASubstitution - coding silent
ENST00000242630p.V58Vc.174C>TSubstitution - coding silent
SEMG1ENSG00000124233ENST00000372781p.H359Rc.1076A>GSubstitution - Missense
RAB11FIP4ENSG00000131242ENST00000325874p.S596Lc.1787C>TSubstitution - Missense
ENST00000242630p.G17Gc.51G>ASubstitution - coding silent
ENST00000242630p.P27Rc.80C>GSubstitution - Missense
ENST00000242630p.V68Vc.204C>GSubstitution - coding silent
ENST00000242630p.S84Sc.252T>ASubstitution - coding silent
LAMA1ENSG00000101680ENST00000389658p.K1068Qc.3202A>CSubstitution - Missense
CHST9ENSG00000154080ENST00000284224p.K329Tc.986A>CSubstitution - Missense
CHST9ENSG00000154080ENST00000284224p.K244Tc.731A>CSubstitution - Missense
BSNENSG00000164061ENST00000296452p.G1333Rc.3997G>ASubstitution - Missense
ASPMENSG00000066279ENST00000367409p.V1659Fc.4975G>TSubstitution - Missense
MORC2ENSG00000133422ENST00000397641p.E708Dc.2124G>TSubstitution - Missense
PSG2ENSG00000242221ENST00000406487p.E47Kc.139G>ASubstitution - Missense
NM_025228.1p.Q280Hc.840A>TSubstitution - Missense
CR1ENSG00000203710ENST00000400960p.G1487Gc.4461G>TSubstitution - coding silent
APBA1ENSG00000107282ENST00000265381p.I739Ic.2217C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000455263p.P152Lc.455C>TSubstitution - Missense
CCDC33ENSG00000140481ENST00000398814p.P414Lc.1241C>TSubstitution - Missense
CCDC33ENSG00000140481ENST00000321288p.P617Lc.1850C>TSubstitution - Missense
ZC3H10ENSG00000135482ENST00000257940p.R209Hc.626G>ASubstitution - Missense
METTL7BENSG00000170439ENST00000394252p.Q225Rc.674A>GSubstitution - Missense
ENST00000307755p.Q175Rc.524A>GSubstitution - Missense
PCDH17ENSG00000118946ENST00000377918p.I38Ic.114C>TSubstitution - coding silent
PRH2ENSG00000134551ENST00000381847p.G137Cc.409G>TSubstitution - Missense
TMEM119ENSG00000183160ENST00000392806p.P225Lc.674C>TSubstitution - Missense
SSH1ENSG00000084112ENST00000326495p.K571Kc.1713A>GSubstitution - coding silent
CMKLR1ENSG00000174600ENST00000312143p.I187Mc.561A>GSubstitution - Missense
NM_015057.1p.?c.831+10A>GUnknown
OAS2ENSG00000111335ENST00000342315p.L319Fc.957G>CSubstitution - Missense
HLXENSG00000136630ENST00000366903p.P410Pc.1230G>ASubstitution - coding silent
DLG5ENSG00000151208ENST00000372391p.R1604Qc.4811G>ASubstitution - Missense
NDST2ENSG00000166507ENST00000309979p.S859Lc.2576C>TSubstitution - Missense
C11orf63ENSG00000109944ENST00000227349p.Q185Qc.555G>ASubstitution - coding silent
CNTN5ENSG00000149972ENST00000524871p.T1098Ac.3292A>GSubstitution - Missense
TLL2ENSG00000095587ENST00000357947p.S382Sc.1146G>ASubstitution - coding silent
PLCE1ENSG00000138193ENST00000371375p.V142Ac.425T>CSubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.V450Ac.1349T>CSubstitution - Missense
ENST00000328974p.N247Nc.741T>CSubstitution - coding silent
OR10G6ENSG00000198674ENST00000307002p.R207Cc.619C>TSubstitution - Missense
OS9ENSG00000135506ENST00000315970p.K619Kc.1857G>ASubstitution - coding silent
CD5LENSG00000073754ENST00000368174p.S71Sc.213C>TSubstitution - coding silent
MIB2ENSG00000197530ENST00000355826p.D226Nc.676G>ASubstitution - Missense
CAPN9ENSG00000135773ENST00000271971p.Q304Rc.911A>GSubstitution - Missense
SU_OBSCN.1p.K6432Kc.19296G>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.K5850Kc.17550G>ASubstitution - coding silent
POC1BENSG00000139323ENST00000313546p.L326delLc.976_978delCTTDeletion - In frame
LRRIQ1ENSG00000133640ENST00000393217p.L1204Lc.3612G>ASubstitution - coding silent
ENST00000256007p.L1204Lc.3612G>ASubstitution - coding silent
ALX1ENSG00000180318ENST00000316824p.A289Ac.867A>GSubstitution - coding silent
TMTC2ENSG00000179104ENST00000321196p.G319Vc.956G>TSubstitution - Missense
NM_006313.1p.?c.2483+2T>CUnknown
VWFENSG00000110799ENST00000261405p.P1266Qc.3797C>ASubstitution - Missense
C12orf60ENSG00000182993ENST00000330828p.L195Pc.584T>CSubstitution - Missense


COSMIC

0 mutations reported
0 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