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JSC-1 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

1729 mutations reported
579 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
HIST1H4EENSG00000198518ENST00000360441p.V66Vc.198G>CSubstitution - coding silent
PAQR6ENSG00000160781ENST00000292291p.H147Nc.439C>ASubstitution - Missense
FOXRED1ENSG00000110074ENST00000263578p.D214Ec.642C>ASubstitution - Missense
OR10S1ENSG00000196248ENST00000531945p.A139Ac.417T>CSubstitution - coding silent
CYP2C19ENSG00000165841ENST00000371321p.L77Vc.229C>GSubstitution - Missense
CYP2C8ENSG00000138115ENST00000535898p.G282Gc.846C>ASubstitution - coding silent
NM_000770.2p.L36Vc.106C>GSubstitution - Missense
TCTN3ENSG00000119977ENST00000265993p.Q293Hc.879G>CSubstitution - Missense
PLCE1ENSG00000138193ENST00000371375p.S1010Yc.3029C>ASubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.S1318Yc.3953C>ASubstitution - Missense
ENST00000224764p.L11Lc.33G>ASubstitution - coding silent
ENST00000224764p.L11Lc.33G>ASubstitution - coding silent
SU_OBSCN.1p.D1324Nc.3970G>ASubstitution - Missense
DNAH14ENSG00000185842ENST00000445597p.E421Qc.1261G>CSubstitution - Missense
KIAA1462ENSG00000165757ENST00000375377p.H106Dc.316C>GSubstitution - Missense
ENST00000375328p.N22Hc.64A>CSubstitution - Missense
LMO7ENSG00000136153ENST00000465261p.E1072Kc.3214G>ASubstitution - Missense
LMO7ENSG00000136153ENST00000341547p.E1025Kc.3073G>ASubstitution - Missense
FAM216AENSG00000204856ENST00000377673p.Q161Ec.481C>GSubstitution - Missense
ATP2A2ENSG00000174437ENST00000539276p.H682Nc.2044C>ASubstitution - Missense
ZC3H13ENSG00000123200ENST00000282007p.?c.448+9C>TUnknown
MED4ENSG00000136146ENST00000258648p.G22Gc.66T>GSubstitution - coding silent
NAA16ENSG00000172766ENST00000379406p.D670Nc.2008G>ASubstitution - Missense
ENST00000300576_v68p.P666Tc.1996C>ASubstitution - Missense
ARIH1ENSG00000166233ENST00000379887p.E147Kc.439G>ASubstitution - Missense
BAZ2AENSG00000076108ENST00000551812p.R805Rc.2415G>ASubstitution - coding silent
BAZ2AENSG00000076108ENST00000551812p.R805Rc.2415G>ASubstitution - coding silent
BAZ2AENSG00000076108ENST00000379441p.R841Rc.2523G>ASubstitution - coding silent
MYL6ENSG00000092841ENST00000550697p.E133Qc.397G>CSubstitution - Missense
TESPA1ENSG00000135426ENST00000316577p.P221Sc.661C>TSubstitution - Missense
KRT79ENSG00000185640ENST00000330553p.A418Ac.1254C>ASubstitution - coding silent
USH2AENSG00000042781ENST00000307340p.R2547Tc.7640G>CSubstitution - Missense
HHATENSG00000054392ENST00000367010p.T371Kc.1112C>ASubstitution - Missense
KIF17ENSG00000117245ENST00000247986p.E141Kc.421G>ASubstitution - Missense
PLXNA2ENSG00000076356ENST00000367033p.L904Lc.2712C>ASubstitution - coding silent
CXXC5ENSG00000171604ENST00000302517p.Q289*c.865C>TSubstitution - Nonsense
SRGAP2ENSG00000163486ENST00000414007p.E403Kc.1207G>ASubstitution - Missense
PIEZO1ENSG00000103335ENST00000301015p.R531Hc.1592G>ASubstitution - Missense
MEGF8ENSG00000105429ENST00000251268p.E256Kc.766G>ASubstitution - Missense
OR2Z1ENSG00000181733ENST00000324060p.M136Ic.408G>ASubstitution - Missense
SFTPDENSG00000133661ENST00000372292p.P201Lc.602C>TSubstitution - Missense
POU3F4ENSG00000196767ENST00000373200p.L53Lc.159C>TSubstitution - coding silent
CCT5ENSG00000150753ENST00000280326p.D10Hc.28G>CSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.T4327Tc.12981G>ASubstitution - coding silent
ERBB3ENSG00000065361ENST00000267101p.E1219Kc.3655G>ASubstitution - Missense
FAM83DENSG00000101447ENST00000217429p.G264Vc.791G>TSubstitution - Missense
CHD6ENSG00000124177ENST00000373233p.T90Ac.268A>GSubstitution - Missense
ASCC3ENSG00000112249ENST00000369162p.E1839Kc.5515G>ASubstitution - Missense
PCSK5ENSG00000099139ENST00000376767p.V600Mc.1798G>ASubstitution - Missense
SPTAN1ENSG00000197694ENST00000372731p.E2111*c.6331G>TSubstitution - Nonsense
IPCEF1ENSG00000074706ENST00000367220p.P384Pc.1152G>ASubstitution - coding silent
HCN1ENSG00000164588ENST00000303230p.I621Ic.1863C>TSubstitution - coding silent
CNTN4ENSG00000144619ENST00000418658p.R988Qc.2963G>ASubstitution - Missense
CNTN4ENSG00000144619ENST00000397459p.R660Qc.1979G>ASubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.D1614Nc.4840G>ASubstitution - Missense
ZNF700ENSG00000196757ENST00000254321p.S140Yc.419C>ASubstitution - Missense
SGPL1ENSG00000166224ENST00000373202p.Q119*c.355C>TSubstitution - Nonsense
SMC5ENSG00000198887ENST00000361138p.Q181*c.541C>TSubstitution - Nonsense
MUC12ENSG00000205277ENST00000536621p.T2728fs*13c.8181_8182delCADeletion - Frameshift
ITGAVENSG00000138448ENST00000261023p.F51Fc.153C>TSubstitution - coding silent
C2orf16ENSG00000221843ENST00000408964p.S668Fc.2003C>TSubstitution - Missense
DAGLBENSG00000164535ENST00000297056p.I13Ic.39C>TSubstitution - coding silent
ZSCAN21ENSG00000166529ENST00000292450p.K147Kc.441G>ASubstitution - coding silent
NM_032590.2p.S459Lc.1376C>TSubstitution - Missense
TIMD4ENSG00000145850ENST00000274532p.V231Vc.693C>TSubstitution - coding silent
PIK3C2AENSG00000011405ENST00000265970p.T1346Rc.4037C>GSubstitution - Missense
ENST00000321016_v61p.Y4Cc.11A>GSubstitution - Missense
ARHGEF19ENSG00000142632ENST00000270747p.H666Nc.1996C>ASubstitution - Missense
NM_001787p.Y67Yc.201T>CSubstitution - coding silent
C1orf192ENSG00000188931ENST00000367974p.L19Lc.55C>TSubstitution - coding silent
ARHGAP30ENSG00000186517ENST00000368016p.?c.98-8G>TUnknown
DEDDENSG00000158796ENST00000368006p.E252Qc.754G>CSubstitution - Missense
NM_004667.3p.S2481Fc.7442C>TSubstitution - Missense
MARCKSL1ENSG00000175130ENST00000329421p.E30Dc.90G>CSubstitution - Missense
FREM2ENSG00000150893ENST00000280481p.D113Nc.337G>ASubstitution - Missense
DCLK1ENSG00000133083ENST00000255448p.S158Wc.473C>GSubstitution - Missense
POSTNENSG00000133110ENST00000379747p.?c.896-6C>TUnknown
NBEAENSG00000172915ENST00000379922p.G480Ec.1439G>ASubstitution - Missense
FRYENSG00000073910ENST00000380250p.R1875Rc.5625G>TSubstitution - coding silent
BRCA2ENSG00000139618ENST00000544455p.E3053Kc.9157G>ASubstitution - Missense
TEX26ENSG00000175664ENST00000380473p.S206Lc.617C>TSubstitution - Missense
ANO4ENSG00000151572ENST00000392979p.L530Lc.1590G>ASubstitution - coding silent
CNNM2ENSG00000148842ENST00000369878p.F377Fc.1131C>TSubstitution - coding silent
SEC31BENSG00000075826ENST00000370345p.H222Nc.664C>ASubstitution - Missense
TACC2ENSG00000138162ENST00000369005p.P2283Lc.6848C>TSubstitution - Missense
TACC2ENSG00000138162ENST00000453444p.P2287Lc.6860C>TSubstitution - Missense
KCNK18ENSG00000186795ENST00000334549p.E2Kc.4G>ASubstitution - Missense
AFAP1L2ENSG00000169129ENST00000304129p.T788Ic.2363C>TSubstitution - Missense
COX20ENSG00000203667ENST00000411948p.R31Wc.91C>TSubstitution - Missense
CEP170ENSG00000143702ENST00000366543p.R904Tc.2711G>CSubstitution - Missense
CEP170ENSG00000143702ENST00000366542p.R1002Tc.3005G>CSubstitution - Missense
FGF14ENSG00000102466ENST00000376131p.R191Kc.572G>ASubstitution - Missense
NM_017635.3p.R417Tc.1250G>CSubstitution - Missense
AIPENSG00000110711ENST00000279146p.I149Ic.447C>TSubstitution - coding silent
LRRC10BENSG00000204950ENST00000378075p.R204Sc.610C>ASubstitution - Missense
CD5ENSG00000110448ENST00000347785p.Q222Ec.664C>GSubstitution - Missense
VWCEENSG00000167992ENST00000335613p.L830Lc.2490G>ASubstitution - coding silent
RABGGTAENSG00000100949ENST00000399409p.E130Kc.388G>ASubstitution - Missense
MYH7ENSG00000092054ENST00000355349p.A1364Ac.4092C>TSubstitution - coding silent
CMTM5ENSG00000166091ENST00000339180p.R84Cc.250C>TSubstitution - Missense
CHD8ENSG00000100888ENST00000430710p.D1878Nc.5632G>ASubstitution - Missense
CHD8ENSG00000100888ENST00000399982p.D2157Nc.6469G>ASubstitution - Missense
METTL17ENSG00000165792ENST00000382985p.Q209Kc.625C>ASubstitution - Missense
HNRNPCENSG00000092199ENST00000320084p.L118Lc.354C>GSubstitution - coding silent
TRAF3ENSG00000131323ENST00000560371p.L213Fc.637C>TSubstitution - Missense
MKI67ENSG00000148773ENST00000368654p.R2602Tc.7805G>CSubstitution - Missense
ADAM12ENSG00000148848ENST00000368679p.L89Fc.265C>TSubstitution - Missense
OR10A6ENSG00000175393ENST00000309838p.L105Pc.314T>CSubstitution - Missense
ADAMTS7ENSG00000136378ENST00000388820p.V713Lc.2137G>TSubstitution - Missense
RASGRF1ENSG00000058335ENST00000419573p.P728Pc.2184C>ASubstitution - coding silent
SLC4A8ENSG00000050438ENST00000394856p.F336Lc.1008C>ASubstitution - Missense
DDX23ENSG00000174243ENST00000308025p.?c.866+8G>CUnknown
ATF7IPENSG00000171681ENST00000261168p.L725Vc.2173C>GSubstitution - Missense
ERP27ENSG00000139055ENST00000266397p.E68Kc.202G>ASubstitution - Missense
ARHGDIBENSG00000111348ENST00000228945p.T171Tc.513G>TSubstitution - coding silent
LYSTENSG00000143669ENST00000389793p.Q3409Qc.10227G>ASubstitution - coding silent
NUP133ENSG00000069248ENST00000261396p.E1094Kc.3280G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.R8408Wc.25222C>TSubstitution - Missense
SU_OBSCN.1p.R8278Wc.24832C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.D5881Nc.17641G>ASubstitution - Missense
SU_OBSCN.1p.D5751Nc.17251G>ASubstitution - Missense
CEP290ENSG00000198707ENST00000552810p.E907Qc.2719G>CSubstitution - Missense
LRRIQ1ENSG00000133640ENST00000393217p.R766Sc.2298A>TSubstitution - Missense
VWFENSG00000110799ENST00000261405p.P1648Tc.4942C>ASubstitution - Missense
GLI1ENSG00000111087ENST00000228682p.R531Hc.1592G>ASubstitution - Missense
MYO1AENSG00000166866ENST00000300119p.D434Nc.1300G>ASubstitution - Missense
LRRC71ENSG00000160838ENST00000337428p.L218Fc.654G>TSubstitution - Missense
FCRL5ENSG00000143297ENST00000361835p.C335Fc.1004G>TSubstitution - Missense
IQGAP3ENSG00000183856ENST00000361170p.K1626Kc.4878G>ASubstitution - coding silent
POP5ENSG00000167272ENST00000357500p.E153Qc.457G>CSubstitution - Missense
TPCN1ENSG00000186815ENST00000335509p.D7Ac.20A>CSubstitution - Missense
ZNF691ENSG00000164011ENST00000372503p.F301Fc.903C>TSubstitution - coding silent
MACF1ENSG00000127603ENST00000360115p.D1807Nc.5419G>ASubstitution - Missense
DRAP1ENSG00000175550ENST00000312515p.R60Rc.180G>ASubstitution - coding silent
PCNXL3ENSG00000197136ENST00000355703p.G1369Cc.4105G>TSubstitution - Missense
PYGMENSG00000068976ENST00000164139p.G261Sc.781G>ASubstitution - Missense
ECDENSG00000122882ENST00000430082p.L456Lc.1368G>TSubstitution - coding silent
ECDENSG00000122882ENST00000372979p.L423Lc.1269G>TSubstitution - coding silent
LRRC20ENSG00000172731ENST00000373224p.?c.232+6C>TUnknown
NODALENSG00000156574ENST00000287139p.E112Qc.334G>CSubstitution - Missense
ANK3ENSG00000151150ENST00000280772p.Q1706Kc.5116C>ASubstitution - Missense
FAM208BENSG00000108021ENST00000328090p.K604Kc.1812G>ASubstitution - coding silent
PCDH15ENSG00000150275ENST00000361849p.?c.1441-5C>AUnknown
PCDH15ENSG00000150275ENST00000395438p.?c.1441-5C>AUnknown
PCDH15ENSG00000150275ENST00000414778p.?c.1456-5C>AUnknown
AKR1C4ENSG00000198610ENST00000380448p.K161Kc.483G>ASubstitution - coding silent
RSL1D1ENSG00000171490ENST00000571133p.K478Qc.1432A>CSubstitution - Missense
SYNMENSG00000182253ENST00000328642p.S464Fc.1391C>TSubstitution - Missense
TTC23ENSG00000103852ENST00000394132p.E49Kc.145G>ASubstitution - Missense
UNC45AENSG00000140553ENST00000418476p.R240Qc.719G>ASubstitution - Missense
NEK9ENSG00000119638ENST00000238616p.L362Lc.1086G>ASubstitution - coding silent
SIPA1L1ENSG00000197555ENST00000555818p.E625Kc.1873G>ASubstitution - Missense
SIPA1L1ENSG00000197555ENST00000555818p.D1540Hc.4618G>CSubstitution - Missense
KIAA1217ENSG00000120549ENST00000376454p.S468Yc.1403C>ASubstitution - Missense
KIAA1217ENSG00000120549ENST00000430453p.S389Yc.1166C>ASubstitution - Missense
PLXDC2ENSG00000120594ENST00000377252p.V216Vc.648C>TSubstitution - coding silent
VIMENSG00000026025ENST00000544301p.R304Qc.911G>ASubstitution - Missense
CACNB2ENSG00000165995ENST00000377329p.P27Qc.80C>ASubstitution - Missense
RPL3LENSG00000140986ENST00000268661p.Q167Ec.499C>GSubstitution - Missense
SYT17ENSG00000103528ENST00000355377p.A77Ac.231C>ASubstitution - coding silent
UBR4ENSG00000127481ENST00000375254p.G4854Gc.14562C>ASubstitution - coding silent
UBR4ENSG00000127481ENST00000375254p.Q847*c.2539C>TSubstitution - Nonsense
PLA2G4AENSG00000116711ENST00000367466p.Q684*c.2050C>TSubstitution - Nonsense
ALDH4A1ENSG00000159423ENST00000375341p.T285Tc.855A>CSubstitution - coding silent
ALDH4A1ENSG00000159423ENST00000290597p.T285Tc.855A>CSubstitution - coding silent
HMCN1ENSG00000143341ENST00000271588p.F13Sc.38T>CSubstitution - Missense
FAM19A3ENSG00000184599ENST00000369630p.A94Sc.280G>TSubstitution - Missense
NTNG1ENSG00000162631ENST00000542803p.S360Lc.1079C>TSubstitution - Missense
PRRG4ENSG00000135378ENST00000257836p.E170Kc.508G>ASubstitution - Missense
ENST00000312105p.?c.1083+3G>AUnknown
ATMENSG00000149311ENST00000278616p.V551Lc.1651G>CSubstitution - Missense
ATMENSG00000149311ENST00000278616p.V551Lc.1651G>CSubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.T668Pc.2002A>CSubstitution - Missense
ENST00000298815_v65p.S318Lc.953C>TSubstitution - Missense
NM_000926.2p.A855Ec.2564C>ASubstitution - Missense
HTR3BENSG00000149305ENST00000260191p.I388Ic.1164C>ASubstitution - coding silent
NXPE1ENSG00000095110ENST00000251921p.D306Ec.918C>ASubstitution - Missense
ENST00000433634p.E266Qc.796G>CSubstitution - Missense
KCNC2ENSG00000166006ENST00000549446p.S205Fc.614C>TSubstitution - Missense
KCNC2ENSG00000166006ENST00000341669p.S205Fc.614C>TSubstitution - Missense
THAP2ENSG00000173451ENST00000308086p.E177Kc.529G>ASubstitution - Missense
USP5ENSG00000111667ENST00000229268p.L602Fc.1806G>CSubstitution - Missense
USP5ENSG00000111667ENST00000389231p.L602Fc.1806G>CSubstitution - Missense
RAP1BENSG00000127314ENST00000250559p.Q94Qc.282A>GSubstitution - coding silent
GRIP1ENSG00000155974ENST00000398016p.?c.724+9G>AUnknown
PIANPENSG00000139200ENST00000540656p.T229Kc.686C>ASubstitution - Missense
COPS7AENSG00000111652ENST00000543155p.M49Ic.147G>TSubstitution - Missense
TEDDM1ENSG00000203730ENST00000367565p.K232Rc.695A>GSubstitution - Missense
ANGPTL1ENSG00000116194ENST00000367629p.S385Tc.1154G>CSubstitution - Missense
ANGPTL1ENSG00000116194ENST00000367629p.E140Dc.420G>CSubstitution - Missense
FAM20BENSG00000116199ENST00000263733p.V260Vc.780G>CSubstitution - coding silent
PADI4ENSG00000159339ENST00000375448p.L182Lc.546G>ASubstitution - coding silent
HPS5ENSG00000110756ENST00000349215p.M166Lc.496A>CSubstitution - Missense
NIPBLENSG00000164190ENST00000448238p.M1172Ic.3516G>ASubstitution - Missense
UGT3A1ENSG00000145626ENST00000274278p.Q58*c.172C>TSubstitution - Nonsense
RPAP1ENSG00000103932ENST00000304330p.S200Nc.599G>ASubstitution - Missense
OIP5ENSG00000104147ENST00000220514p.E194Kc.580G>ASubstitution - Missense
SACSENSG00000151835ENST00000382298p.A3782Ac.11346A>GSubstitution - coding silent
HSP90AA1ENSG00000080824ENST00000334701p.E387Kc.1159G>ASubstitution - Missense
KLHL17ENSG00000187961ENST00000338591p.E63Ec.189G>ASubstitution - coding silent
GLCEENSG00000138604ENST00000261858p.Q79*c.235C>TSubstitution - Nonsense
DENND4AENSG00000174485ENST00000443035p.D1706Nc.5116G>ASubstitution - Missense
TLN2ENSG00000171914ENST00000306829p.A979Ac.2937T>CSubstitution - coding silent
TSHRENSG00000165409ENST00000541158p.E727Ac.2180A>CSubstitution - Missense
GPHNENSG00000171723ENST00000478722p.S404Lc.1211C>TSubstitution - Missense
PLEKHH1ENSG00000054690ENST00000329153p.E538Qc.1612G>CSubstitution - Missense
SPTBENSG00000070182ENST00000542895p.?c.475-3C>GUnknown
MTHFD1ENSG00000100714ENST00000555709p.G415Gc.1245C>ASubstitution - coding silent
PCNXL4ENSG00000126773ENST00000406854p.S678Fc.2033C>TSubstitution - Missense
PCNXL4ENSG00000126773ENST00000404681p.S444Fc.1331C>TSubstitution - Missense
SOCS4ENSG00000180008ENST00000395472p.H123Rc.368A>GSubstitution - Missense
PER3ENSG00000049246ENST00000361923p.H1002Yc.3004C>TSubstitution - Missense
CD164L2ENSG00000174950ENST00000374027p.?c.89-9C>AUnknown
CD164L2ENSG00000174950ENST00000374025p.?c.89-9C>AUnknown
CNKSR1ENSG00000142675ENST00000361530p.P555Pc.1665A>CSubstitution - coding silent
MMEL1ENSG00000142606ENST00000288709p.Q591Rc.1772A>GSubstitution - Missense
NBPF10ENSG00000163386ENST00000342960p.N344Yc.1030A>TSubstitution - Missense
NBPF10ENSG00000163386ENST00000369338p.N73Yc.217A>TSubstitution - Missense
PRDM2ENSG00000116731ENST00000235372p.A1277Vc.3830C>TSubstitution - Missense
PRAMEF2ENSG00000120952ENST00000240189p.S314Yc.941C>ASubstitution - Missense
GPR133ENSG00000111452ENST00000261654p.?c.811-3C>TUnknown
PUS1ENSG00000177192ENST00000376649p.E371Qc.1111G>CSubstitution - Missense
FAT3ENSG00000165323ENST00000298047p.D598Dc.1794C>TSubstitution - coding silent
CTSCENSG00000109861ENST00000227266p.H172Yc.514C>TSubstitution - Missense
GCNT3ENSG00000140297ENST00000396065p.W400Cc.1200G>CSubstitution - Missense
FAM81AENSG00000157470ENST00000288228p.T173Mc.518C>TSubstitution - Missense
DYX1C1ENSG00000256061ENST00000321149p.E170Kc.508G>ASubstitution - Missense
DSTYKENSG00000133059ENST00000367162p.K417Ec.1249A>GSubstitution - Missense
CNTN2ENSG00000184144ENST00000331830p.L427Lc.1281G>ASubstitution - coding silent
TMEM81ENSG00000174529ENST00000367167p.L95Lc.285C>TSubstitution - coding silent
TMCO4ENSG00000162542ENST00000294543p.G218Vc.653G>TSubstitution - Missense
ADARENSG00000160710ENST00000368474p.L432Lc.1296G>ASubstitution - coding silent
S100A7AENSG00000184330ENST00000329256p.P30Rc.89C>GSubstitution - Missense
PRPF39ENSG00000185246ENST00000355765p.N14Sc.41A>GSubstitution - Missense
FANCMENSG00000187790ENST00000267430p.E991Kc.2971G>ASubstitution - Missense
PNNENSG00000100941ENST00000216832p.D33Hc.97G>CSubstitution - Missense
DUOX2ENSG00000140279ENST00000389039p.I296Ic.888C>ASubstitution - coding silent
VPS39ENSG00000166887ENST00000318006p.E583Kc.1747G>ASubstitution - Missense
CAPN3ENSG00000092529ENST00000397163p.?c.499-4G>TUnknown
CAPN3ENSG00000092529ENST00000357568p.?c.499-4G>TUnknown
CAPN3ENSG00000092529ENST00000356316p.?c.238-4G>TUnknown
TBX19ENSG00000143178ENST00000367821p.H18Nc.52C>ASubstitution - Missense
RCSD1ENSG00000198771ENST00000367854p.L153Mc.457C>ASubstitution - Missense
NBPF20ENSG00000203832ENST00000369202p.E177*c.529G>TSubstitution - Nonsense
AADACL4ENSG00000204518ENST00000376221p.V21Fc.61G>TSubstitution - Missense
DVL1ENSG00000107404ENST00000378891p.E187Qc.559G>CSubstitution - Missense
PRAMEF1ENSG00000116721ENST00000332296p.A27Ac.81C>TSubstitution - coding silent
IGSF3ENSG00000143061ENST00000369483p.Q53Qc.159G>ASubstitution - coding silent
IGSF3ENSG00000143061ENST00000369486p.Q53Qc.159G>ASubstitution - coding silent
MAB21L3ENSG00000173212ENST00000369500p.L4Ic.10C>ASubstitution - Missense
SYCP1ENSG00000198765ENST00000369518p.E365Qc.1093G>CSubstitution - Missense
HIPK1ENSG00000163349ENST00000369558p.Q516*c.1546C>TSubstitution - Nonsense
NM_152696p.Q516*c.1546C>TSubstitution - Nonsense
KDM2BENSG00000089094ENST00000377069p.V1182Vc.3546C>TSubstitution - coding silent
NM_032590.2p.V890Vc.2670C>TSubstitution - coding silent
KDM2BENSG00000089094ENST00000377071p.?c.1048-3C>TUnknown
SIRT4ENSG00000089163ENST00000202967p.R155Qc.464G>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000423507p.E301Kc.901G>ASubstitution - Missense
TNPO3ENSG00000064419ENST00000265388p.?c.2711+7G>CUnknown
SPAM1ENSG00000106304ENST00000439500p.S119Yc.356C>ASubstitution - Missense
SPAM1ENSG00000106304ENST00000340011p.S119Yc.356C>ASubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.G84Sc.250G>ASubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.H307Yc.919C>TSubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.E687Kc.2059G>ASubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.E687Kc.2059G>ASubstitution - Missense
CADPS2ENSG00000081803ENST00000449022p.?c.2187-3C>TUnknown
ZNF831ENSG00000124203ENST00000371030p.F484Fc.1452C>TSubstitution - coding silent
PTPN1ENSG00000196396ENST00000371621p.?c.703-15_709del22Unknown
RALGAPBENSG00000170471ENST00000397040p.I780Vc.2338A>GSubstitution - Missense
SIGLEC1ENSG00000088827ENST00000202578p.T926Tc.2778C>ASubstitution - coding silent
ATRNENSG00000088812ENST00000262919p.H732Qc.2196C>ASubstitution - Missense
SOGA1ENSG00000149639ENST00000237536p.E951Kc.2851G>ASubstitution - Missense
SOGA1ENSG00000149639ENST00000279034p.E713Kc.2137G>ASubstitution - Missense
SOGA1ENSG00000149639ENST00000237536p.E951Kc.2851G>ASubstitution - Missense
CBFA2T2ENSG00000078699ENST00000342704p.G103Dc.308G>ASubstitution - Missense
SIGLEC8ENSG00000105366ENST00000321424p.Q484Ec.1450C>GSubstitution - Missense
MYBPC2ENSG00000086967ENST00000357701p.P6Lc.17C>TSubstitution - Missense
S1PR4ENSG00000125910ENST00000246115p.R109Hc.326G>ASubstitution - Missense
DNAH2ENSG00000183914ENST00000389173p.I802Ic.2406C>TSubstitution - coding silent
MED9ENSG00000141026ENST00000268711p.E13*c.37G>TSubstitution - Nonsense
CRKENSG00000167193ENST00000300574p.K268Kc.804G>ASubstitution - coding silent
TMEM164ENSG00000157600ENST00000372073p.L211Lc.633C>TSubstitution - coding silent
NM_032227.1p.L172Lc.516C>TSubstitution - coding silent
TSC22D3ENSG00000157514ENST00000315660p.G41Gc.123C>ASubstitution - coding silent
CSTF2ENSG00000101811ENST00000372972p.Q527Qc.1581G>ASubstitution - coding silent
NM_212559.1p.R318Wc.952C>TSubstitution - Missense
SLC35D2ENSG00000130958ENST00000253270p.G274Ac.821G>CSubstitution - Missense
FAM120AENSG00000048828ENST00000277165p.R732Wc.2194C>TSubstitution - Missense
INSRENSG00000171105ENST00000302850p.Q699Hc.2097G>CSubstitution - Missense
INSRENSG00000171105ENST00000302850p.Q699Hc.2097G>CSubstitution - Missense
MLLT1ENSG00000130382ENST00000252674p.*560Cc.1680A>CNonstop extension
GTF2F1ENSG00000125651ENST00000394456p.R92Qc.275G>ASubstitution - Missense
SLC25A23ENSG00000125648ENST00000301454p.E235Kc.703G>ASubstitution - Missense
SH2D1AENSG00000183918ENST00000371139p.S85Lc.254C>TSubstitution - Missense
ZBTB33ENSG00000177485ENST00000326624p.S344Cc.1031C>GSubstitution - Missense
LUZP4ENSG00000102021ENST00000371920p.L266Lc.798C>TSubstitution - coding silent
PAK3ENSG00000077264ENST00000446737p.K113Kc.339G>ASubstitution - coding silent
LYPLA1ENSG00000120992ENST00000316963p.P109Tc.325C>ASubstitution - Missense
APOBENSG00000084674ENST00000233242p.K4512fs*9c.13536delADeletion - Frameshift
ZDBF2ENSG00000204186ENST00000374423p.D780Dc.2340T>CSubstitution - coding silent
ZDBF2ENSG00000204186ENST00000374423p.D780Dc.2340T>CSubstitution - coding silent
ITGAVENSG00000138448ENST00000261023p.D90Dc.270C>TSubstitution - coding silent
ENST00000356127p.D4149Nc.12445G>ASubstitution - Missense
CST3ENSG00000101439ENST00000398409p.Q133Kc.397C>ASubstitution - Missense
KIF16BENSG00000089177ENST00000408042p.A368Sc.1102G>TSubstitution - Missense
ZNF562ENSG00000171466ENST00000293648p.Y49*c.147C>ASubstitution - Nonsense
MUC16ENSG00000181143ENST00000397910p.S2264Lc.6791C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S2264Lc.6791C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.P665Qc.1994C>ASubstitution - Missense
PSMB6ENSG00000142507ENST00000270586p.?c.577+3G>CUnknown
SPPL2CENSG00000185294ENST00000329196p.L134Lc.402G>ASubstitution - coding silent
MAPTENSG00000186868ENST00000344290p.S735Cc.2204C>GSubstitution - Missense
MAPTENSG00000186868ENST00000262410p.S717Cc.2150C>GSubstitution - Missense
SPNS2ENSG00000183018ENST00000329078p.P337Pc.1011G>TSubstitution - coding silent
WNT3ENSG00000108379ENST00000225512p.E151Kc.451G>ASubstitution - Missense
GINS2ENSG00000131153ENST00000253462p.M74Ic.222G>ASubstitution - Missense
OSGIN1ENSG00000140961ENST00000343939p.T359Kc.1076C>ASubstitution - Missense
ENST00000299564p.L300Lc.900C>TSubstitution - coding silent
ADAMTS18ENSG00000140873ENST00000282849p.L1161Pc.3482T>CSubstitution - Missense
ADAT1ENSG00000065457ENST00000307921p.I331Vc.991A>GSubstitution - Missense
NIPBLENSG00000164190ENST00000282516p.M1172Ic.3516G>ASubstitution - Missense
IFRD2ENSG00000214706ENST00000336089p.E521Kc.1561G>ASubstitution - Missense
APEHENSG00000164062ENST00000296456p.L645Lc.1935C>TSubstitution - coding silent
UBA7ENSG00000182179ENST00000333486p.S188Fc.563C>TSubstitution - Missense
LAMB2ENSG00000172037ENST00000305544p.G1195Rc.3583G>ASubstitution - Missense
NICN1ENSG00000145029ENST00000273598p.S144Sc.432C>TSubstitution - coding silent
BEND4ENSG00000188848ENST00000502486p.R165Qc.494G>ASubstitution - Missense
ATP8A1ENSG00000124406ENST00000264449p.L625Rc.1874T>GSubstitution - Missense
PDS5AENSG00000121892ENST00000303538p.D226Hc.676G>CSubstitution - Missense
PGM2ENSG00000169299ENST00000381967p.E346Kc.1036G>ASubstitution - Missense
ITSN1ENSG00000205726ENST00000381318p.Q1124Hc.3372G>CSubstitution - Missense
SCAF4ENSG00000156304ENST00000286835p.Q479Ec.1435C>GSubstitution - Missense
URB1ENSG00000142207ENST00000382751p.H2192Hc.6576C>TSubstitution - coding silent
CXADRENSG00000154639ENST00000284878p.V214Vc.642C>ASubstitution - coding silent
GSDMBENSG00000073605ENST00000394175p.F46Lc.138C>ASubstitution - Missense
ARL2BPENSG00000102931ENST00000219204p.R42Kc.125G>ASubstitution - Missense
PPLENSG00000118898ENST00000345988p.R587Rc.1761G>ASubstitution - coding silent
PPEF2ENSG00000156194ENST00000286719p.R639Pc.1916G>CSubstitution - Missense
NPFFR2ENSG00000056291ENST00000308744p.N217Nc.651C>TSubstitution - coding silent
ODAMENSG00000109205ENST00000396094p.?c.51+1G>TUnknown
TMPRSS11EENSG00000087128ENST00000305363p.V8Vc.24G>ASubstitution - coding silent
EPHA3ENSG00000044524ENST00000452448p.M285Ic.855G>ASubstitution - Missense
POU1F1ENSG00000064835ENST00000350375p.?c.604+9T>CUnknown
ROBO2ENSG00000185008ENST00000487694p.L519Vc.1555C>GSubstitution - Missense
ANKRD36ENSG00000135976ENST00000420699p.?c.1633+3A>TUnknown
ARID5AENSG00000196843ENST00000357485p.R170fs*22c.508delADeletion - Frameshift
ID2ENSG00000115738ENST00000234091p.E123*c.367G>TSubstitution - Nonsense
POLR1AENSG00000068654ENST00000263857p.L1657Lc.4971G>ASubstitution - coding silent
DSCAMENSG00000171587ENST00000400454p.E674Kc.2020G>ASubstitution - Missense
SETBP1ENSG00000152217ENST00000282030p.L577Fc.1729C>TSubstitution - Missense
PDE4AENSG00000065989ENST00000293683p.H674Nc.2020C>ASubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.D619Gc.1856A>GSubstitution - Missense
NOL4ENSG00000101746ENST00000261592p.?c.1428+3G>AUnknown
DTNAENSG00000134769ENST00000444659p.S33Sc.99C>ASubstitution - coding silent
DTNAENSG00000134769ENST00000399121p.S33Sc.99C>ASubstitution - coding silent
LPIN2ENSG00000101577ENST00000261596p.A25Ac.75C>ASubstitution - coding silent
CCDC178ENSG00000166960ENST00000300227p.E112Kc.334G>ASubstitution - Missense
ASXL3ENSG00000141431ENST00000269197p.D912Gc.2735A>GSubstitution - Missense
DSG3ENSG00000134757ENST00000257189p.Q271*c.811C>TSubstitution - Nonsense
SMCHD1ENSG00000101596ENST00000261598p.F1611Fc.4833C>TSubstitution - coding silent
SMCHD1ENSG00000101596ENST00000261598p.F1059Fc.3177C>TSubstitution - coding silent
NM_021628.1p.D238Gc.713A>GSubstitution - Missense
ALOX12BENSG00000179477ENST00000319144p.K119Nc.357G>CSubstitution - Missense
FASNENSG00000169710ENST00000306749p.E660Gc.1979A>GSubstitution - Missense
FASNENSG00000169710ENST00000306749p.E660Qc.1978G>CSubstitution - Missense
ENST00000518137_v70p.R174Lc.521G>TSubstitution - Missense
ENDOVENSG00000173818ENST00000518137p.R174Lc.521G>TSubstitution - Missense
CCDC40ENSG00000141519ENST00000397545p.L588Lc.1764C>TSubstitution - coding silent
CCDC40ENSG00000141519ENST00000374877p.L588Lc.1764C>TSubstitution - coding silent
SPAG5ENSG00000076382ENST00000321765p.E226Kc.676G>ASubstitution - Missense
NM_016231p.H412Hc.1236C>TSubstitution - coding silent
SPECC1ENSG00000128487ENST00000395527p.E948Kc.2842G>ASubstitution - Missense
AXIN2ENSG00000168646ENST00000307078p.L395_Q396insEERLc.1185_1186ins12Insertion - In frame
TEX2ENSG00000136478ENST00000258991p.W550*c.1650G>ASubstitution - Nonsense
MED13ENSG00000108510ENST00000397786p.L217Vc.649C>GSubstitution - Missense
EXTL3ENSG00000012232ENST00000220562p.Q473*c.1417C>TSubstitution - Nonsense
CDCA2ENSG00000184661ENST00000330560p.P607Sc.1819C>TSubstitution - Missense
TNFRSF10AENSG00000104689ENST00000221132p.Q116Kc.346C>ASubstitution - Missense
TNFRSF10BENSG00000120889ENST00000276431p.E374Kc.1120G>ASubstitution - Missense
LZTS1ENSG00000061337ENST00000381569p.K544fs*49c.1632delADeletion - Frameshift
FAM208AENSG00000163946ENST00000355628p.P875Tc.2623C>ASubstitution - Missense
TKTENSG00000163931ENST00000462138p.G418Gc.1254C>ASubstitution - coding silent
KDM4CENSG00000107077ENST00000381309p.S8Ic.23G>TSubstitution - Missense
SPATA31A1ENSG00000204849ENST00000377647p.S20Sc.60T>CSubstitution - coding silent
PLXNA4ENSG00000221866ENST00000321063p.E301Kc.901G>ASubstitution - Missense
RARBENSG00000077092ENST00000404969p.S287Lc.860C>TSubstitution - Missense
NEK10ENSG00000163491ENST00000357467p.R395Qc.1184G>ASubstitution - Missense
TCTEX1D2ENSG00000213123ENST00000325318p.?c.114-1G>CUnknown
FEZ2ENSG00000171055ENST00000405912p.I224Ic.672C>TSubstitution - coding silent
LCLAT1ENSG00000172954ENST00000309052p.?c.479-8G>AUnknown
PRR14LENSG00000183530ENST00000327423p.D1814Nc.5440G>ASubstitution - Missense
PRR14LENSG00000183530ENST00000397493p.D1814Nc.5440G>ASubstitution - Missense
ZNRF3ENSG00000183579ENST00000406323p.S516Lc.1547C>TSubstitution - Missense
DIDO1ENSG00000101191ENST00000370371p.S544Fc.1631C>TSubstitution - Missense
OGFRENSG00000060491ENST00000290291p.?c.319+5G>AUnknown
OGFRENSG00000060491ENST00000370461p.?c.163+5G>AUnknown
ZNF808ENSG00000198482ENST00000359798p.S328*c.983C>GSubstitution - Nonsense
ZNF468ENSG00000204604ENST00000243639p.E275*c.823G>TSubstitution - Nonsense
ZNF836ENSG00000196267ENST00000322146p.G634Ec.1901G>ASubstitution - Missense
ZNF841ENSG00000197608ENST00000389534p.S387Cc.1160C>GSubstitution - Missense
ZNF841ENSG00000197608ENST00000359973p.S271Cc.812C>GSubstitution - Missense
C16orf72ENSG00000182831ENST00000327827p.L100Lc.300C>TSubstitution - coding silent
ZCCHC14ENSG00000140948ENST00000268616p.T869Mc.2606C>TSubstitution - Missense
CA5AENSG00000174990ENST00000309893p.E273Qc.817G>CSubstitution - Missense
ENST00000329373p.G72Ec.215G>ASubstitution - Missense
ADCY9ENSG00000162104ENST00000294016p.G548Wc.1642G>TSubstitution - Missense
ITGAXENSG00000140678ENST00000268296p.F360Lc.1080C>ASubstitution - Missense
SENP7ENSG00000138468ENST00000394095p.S386Cc.1157C>GSubstitution - Missense
ZAP70ENSG00000115085ENST00000264972p.E386Kc.1156G>ASubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.R296Kc.887G>ASubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.R183Kc.548G>ASubstitution - Missense
SLC5A6ENSG00000138074ENST00000310574p.?c.1649-3C>GUnknown
GAREMLENSG00000157833ENST00000401533p.S536Fc.1607C>TSubstitution - Missense
ANKMY1ENSG00000144504ENST00000361678p.P444Lc.1331C>TSubstitution - Missense
GPC1ENSG00000063660ENST00000264039p.E57Kc.169G>ASubstitution - Missense
ENST00000388944p.E998Qc.2992G>CSubstitution - Missense
CASP8ENSG00000064012ENST00000264275p.H272Yc.814C>TSubstitution - Missense
TTC32ENSG00000183891ENST00000333610p.?c.149+9C>TUnknown
TTNENSG00000155657ENST00000359218p.E16496Kc.49486G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.E16563Kc.49687G>ASubstitution - Missense
ITGA6ENSG00000091409ENST00000409080p.I409Mc.1227C>GSubstitution - Missense
ITGA6ENSG00000091409ENST00000264107p.I409Mc.1227C>GSubstitution - Missense
CECR5ENSG00000069998ENST00000336737p.P226Pc.678C>TSubstitution - coding silent
PCNTENSG00000160299ENST00000359568p.Q3297Ec.9889C>GSubstitution - Missense
EFCAB8ENSG00000215529ENST00000439060p.?c.682+2deltUnknown
VPS16ENSG00000215305ENST00000380445p.?c.2174+7G>AUnknown
EBF4ENSG00000088881ENST00000380648p.A135Ac.405C>ASubstitution - coding silent
ANKRD30BENSG00000180777ENST00000358984p.V589Mc.1765G>ASubstitution - Missense
CTAGE1ENSG00000212710ENST00000391403p.V206Vc.618G>ASubstitution - coding silent
SERPINB5ENSG00000206075ENST00000382771p.?c.567+7G>TUnknown
PHLPP1ENSG00000081913ENST00000262719p.L483Fc.1449G>TSubstitution - Missense
ENST00000262719_v68p.L483Fc.1449G>TSubstitution - Missense
ACAA2ENSG00000167315ENST00000285093p.?c.578-3C>TUnknown
MYO5BENSG00000167306ENST00000285039p.R901Qc.2702G>ASubstitution - Missense
LOXHD1ENSG00000167210ENST00000398722p.?c.5349-7C>TUnknown
STAU2ENSG00000040341ENST00000355780p.F216Fc.648C>TSubstitution - coding silent
ENST00000357934p.Q692Kc.2074C>ASubstitution - Missense
ZNF250ENSG00000196150ENST00000292579p.L490Lc.1470G>ASubstitution - coding silent
KIAA1875ENSG00000179698ENST00000323662p.L802Lc.2406C>TSubstitution - coding silent
CPSF1ENSG00000071894ENST00000349769p.E446Qc.1336G>CSubstitution - Missense
PLECENSG00000178209ENST00000322810p.I4246Mc.12738C>GSubstitution - Missense
PLECENSG00000178209ENST00000436759p.I4136Mc.12408C>GSubstitution - Missense
PLECENSG00000178209ENST00000354958p.I4087Mc.12261C>GSubstitution - Missense
PEX1ENSG00000127980ENST00000248633p.E638Kc.1912G>ASubstitution - Missense
GPLD1ENSG00000112293ENST00000230036p.?c.153+4G>AUnknown
ENST00000378243p.?c.153+4G>AUnknown
KDM1BENSG00000165097ENST00000297792p.A456Ac.1368C>ASubstitution - coding silent
CCR6ENSG00000112486ENST00000400926p.L328Mc.982C>ASubstitution - Missense
RBM6ENSG00000004534ENST00000266022p.M308Ic.924G>CSubstitution - Missense
RQCD1ENSG00000144580ENST00000273064p.E47Kc.139G>ASubstitution - Missense
MAP3K2ENSG00000169967ENST00000409947p.Q576*c.1726C>TSubstitution - Nonsense
CCDC93ENSG00000125633ENST00000376300p.V120Ac.359T>CSubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.R881Tc.2642G>CSubstitution - Missense
DMDENSG00000198947ENST00000357033p.E1987Kc.5959G>ASubstitution - Missense
ENST00000378682p.E646Kc.1936G>ASubstitution - Missense
ENST00000378682p.H1407Yc.4219C>TSubstitution - Missense
MAGEB2ENSG00000099399ENST00000378988p.D313Nc.937G>ASubstitution - Missense
ACE2ENSG00000130234ENST00000252519p.S5Fc.14C>TSubstitution - Missense
CHN2ENSG00000106069ENST00000222792p.?c.144+10C>TUnknown
ABCB5ENSG00000004846ENST00000443026p.?c.202-1G>AUnknown
C6orf118ENSG00000112539ENST00000230301p.L349Lc.1047G>TSubstitution - coding silent
IGF2RENSG00000197081ENST00000356956p.?c.4116-3C>GUnknown
SYNE1ENSG00000131018ENST00000265368p.V2217Ic.6649G>ASubstitution - Missense
MTHFD1LENSG00000120254ENST00000367321p.Q354*c.1060C>TSubstitution - Nonsense
CCDC170ENSG00000120262ENST00000239374p.L25Ic.73C>ASubstitution - Missense
ADGBENSG00000118492ENST00000397944p.R1388Qc.4163G>ASubstitution - Missense
VTA1ENSG00000009844ENST00000367630p.?c.411+7G>AUnknown
HIVEP2ENSG00000010818ENST00000012134p.D1823Nc.5467G>ASubstitution - Missense
ECT2LENSG00000203734ENST00000367682p.I89Mc.267C>GSubstitution - Missense
PCDH10ENSG00000138650ENST00000264360p.G374Gc.1122C>ASubstitution - coding silent
PDE5AENSG00000138735ENST00000354960p.Q743Qc.2229A>GSubstitution - coding silent
PDE5AENSG00000138735ENST00000264805p.Q701Qc.2103A>GSubstitution - coding silent
NDST3ENSG00000164100ENST00000296499p.P554Sc.1660C>TSubstitution - Missense
DHX36ENSG00000174953ENST00000496811p.G43Ec.128G>ASubstitution - Missense
NM_152536.2p.?c.1803-7G>CUnknown
COMMD2ENSG00000114744ENST00000473414p.H60Yc.178C>TSubstitution - Missense
TGOLN2ENSG00000152291ENST00000377386p.T175Ac.523A>GSubstitution - Missense
LRRTM4ENSG00000176204ENST00000409911p.F53Fc.159C>TSubstitution - coding silent
LRRTM4ENSG00000176204ENST00000409088p.F52Fc.156C>TSubstitution - coding silent
LRRTM1ENSG00000162951ENST00000417012p.D383Nc.1147G>ASubstitution - Missense
LRRTM1ENSG00000162951ENST00000295057p.D383Nc.1147G>ASubstitution - Missense
LRRTM4ENSG00000176204ENST00000409093p.F52Fc.156C>TSubstitution - coding silent
CCT7ENSG00000135624ENST00000258091p.V108Vc.324G>ASubstitution - coding silent
NAGKENSG00000124357ENST00000244204p.A333Pc.997G>CSubstitution - Missense
CDH3ENSG00000062038ENST00000429102p.E436Dc.1308G>CSubstitution - Missense
CDH1ENSG00000039068ENST00000261769p.V176Fc.526G>TSubstitution - Missense
SLC12A4ENSG00000124067ENST00000316341p.?c.1297+10G>AUnknown
FAM65AENSG00000039523ENST00000379312p.I596Tc.1787T>CSubstitution - Missense
CDH11ENSG00000140937ENST00000268603p.D685Nc.2053G>ASubstitution - Missense
GRID2ENSG00000152208ENST00000282020p.D110Nc.328G>ASubstitution - Missense
TMEM175ENSG00000127419ENST00000264771p.L303Lc.909G>ASubstitution - coding silent
PDLIM5ENSG00000163110ENST00000317968p.E222Kc.664G>ASubstitution - Missense
SCN11AENSG00000168356ENST00000302328p.?c.893-7C>TUnknown
WDR48ENSG00000114742ENST00000302313p.E538Qc.1612G>CSubstitution - Missense
TRANK1ENSG00000168016ENST00000428977p.L1768Lc.5304C>TSubstitution - coding silent
TRANK1ENSG00000168016ENST00000301807p.L1761Lc.5283C>TSubstitution - coding silent
ZNF860ENSG00000197385ENST00000360311p.R334Tc.1001G>CSubstitution - Missense
EDARENSG00000135960ENST00000258443p.D351Hc.1051G>CSubstitution - Missense
ST6GAL2ENSG00000144057ENST00000361686p.T147Sc.439A>TSubstitution - Missense
CD300LFENSG00000186074ENST00000326165p.?c.559+5G>CUnknown
ABCA10ENSG00000154263ENST00000269081p.E654Kc.1960G>ASubstitution - Missense
ZNF132ENSG00000131849ENST00000254166p.H509Dc.1525C>GSubstitution - Missense
AMZ2ENSG00000196704ENST00000359783p.L135Wc.404T>GSubstitution - Missense
ZNF606ENSG00000166704ENST00000341164p.G424Ec.1271G>ASubstitution - Missense
ZNF549ENSG00000121406ENST00000376233p.E164Kc.490G>ASubstitution - Missense
ZNF549ENSG00000121406ENST00000240719p.E151Kc.451G>ASubstitution - Missense
AURKCENSG00000105146ENST00000448930p.Q252Kc.754C>ASubstitution - Missense
ZNF628ENSG00000197483ENST00000391718p.L606Vc.1816C>GSubstitution - Missense
NRG1ENSG00000157168ENST00000520502p.L23Lc.69G>ASubstitution - coding silent
GPRIN3ENSG00000185477ENST00000333209p.L642Lc.1926C>ASubstitution - coding silent
ABCG2ENSG00000118777ENST00000237612p.Q244*c.730C>TSubstitution - Nonsense
MAPK10ENSG00000109339ENST00000359221p.D87Hc.259G>CSubstitution - Missense
RARBENSG00000077092ENST00000330688p.S280Lc.839C>TSubstitution - Missense
GPR156ENSG00000175697ENST00000315843p.Q698Kc.2092C>ASubstitution - Missense
LRP1BENSG00000168702ENST00000389484p.?c.6024-3C>TUnknown
MAP3K19ENSG00000176601ENST00000375845p.V1091Vc.3273G>TSubstitution - coding silent
PLEKHB2ENSG00000115762ENST00000404460p.R165Qc.494G>ASubstitution - Missense
TBC1D10BENSG00000169221ENST00000409939p.L346Lc.1038G>TSubstitution - coding silent
ENST00000305663p.L71Lc.213G>TSubstitution - coding silent
TBC1D10BENSG00000169221ENST00000409939p.S181Lc.542C>TSubstitution - Missense
APOBRENSG00000184730ENST00000328423p.G1066Rc.3196G>ASubstitution - Missense
PDPK1ENSG00000140992ENST00000342085p.H517Qc.1551C>ASubstitution - Missense
IZUMO1ENSG00000182264ENST00000332955p.S347Lc.1040C>TSubstitution - Missense
EHD2ENSG00000024422ENST00000263277p.T31Tc.93G>ASubstitution - coding silent
PPP5CENSG00000011485ENST00000012443p.I423Ic.1269C>TSubstitution - coding silent
PNMAL1ENSG00000182013ENST00000438932p.R169Sc.505C>ASubstitution - Missense
PRKD2ENSG00000105287ENST00000291281p.F698Sc.2093T>CSubstitution - Missense
DMWDENSG00000185800ENST00000270223p.G285Gc.855G>ASubstitution - coding silent
ZNF429ENSG00000197013ENST00000358491p.R632Qc.1895G>ASubstitution - Missense
SLC25A42ENSG00000181035ENST00000318596p.K27Tc.80A>CSubstitution - Missense
SLC5A5ENSG00000105641ENST00000222248p.L399Lc.1197C>TSubstitution - coding silent
OGTENSG00000147162ENST00000373719p.F77Fc.231T>CSubstitution - coding silent
OGTENSG00000147162ENST00000373701p.F67Fc.201T>CSubstitution - coding silent
TROENSG00000067445ENST00000173898p.E641Qc.1921G>CSubstitution - Missense
KLHL9ENSG00000198642ENST00000359039p.E214Kc.640G>ASubstitution - Missense
IFNA13ENSG00000233816ENST00000449498p.S79Cc.236C>GSubstitution - Missense
FOCADENSG00000188352ENST00000380249p.L194Lc.582C>GSubstitution - coding silent
CNTLNENSG00000044459ENST00000380647p.A877Ec.2630C>ASubstitution - Missense
FZD9ENSG00000188763ENST00000344575p.F451Fc.1353C>TSubstitution - coding silent
WBSCR17ENSG00000185274ENST00000333538p.R400Cc.1198C>TSubstitution - Missense
GIGYF1ENSG00000146830ENST00000275732p.S228Yc.683C>ASubstitution - Missense
ENST00000408925_v68p.E48Kc.142G>ASubstitution - Missense
PRICKLE4ENSG00000124593ENST00000335515p.F214Lc.642C>GSubstitution - Missense
BYSLENSG00000112578ENST00000230340p.E35Dc.105G>CSubstitution - Missense
ZFAND3ENSG00000156639ENST00000287218p.?c.113-3C>TUnknown
ENC1ENSG00000171617ENST00000302351p.L188Lc.564G>TSubstitution - coding silent
SLC26A6ENSG00000225697ENST00000395550p.?c.2265+3G>AUnknown
CELSR3ENSG00000008300ENST00000164024p.R3163Qc.9488G>ASubstitution - Missense
PLXNB1ENSG00000164050ENST00000296440p.?c.3049+3G>TUnknown
LTFENSG00000012223ENST00000231751p.K118Rc.353A>GSubstitution - Missense
ZNF445ENSG00000185219ENST00000396077p.E657Kc.1969G>ASubstitution - Missense
PKDREJENSG00000130943ENST00000253255p.E1488Qc.4462G>CSubstitution - Missense
FAM109BENSG00000177096ENST00000321753p.L13Lc.39C>GSubstitution - coding silent
POLDIP3ENSG00000100227ENST00000252115p.A177Ac.531C>ASubstitution - coding silent
CYB5R3ENSG00000100243ENST00000361740p.D233Hc.697G>CSubstitution - Missense
PIK3R4ENSG00000196455ENST00000356763p.E372Dc.1116A>TSubstitution - Missense
COPG1ENSG00000181789ENST00000314797p.A45Sc.133G>TSubstitution - Missense
UROC1ENSG00000159650ENST00000290868p.P54Pc.162G>ASubstitution - coding silent
ZNF148ENSG00000163848ENST00000360647p.?c.786+7G>CUnknown
CCDC37ENSG00000163885ENST00000352312p.A312Vc.935C>TSubstitution - Missense
TMEM18ENSG00000151353ENST00000281017p.V12Vc.36C>TSubstitution - coding silent
EHBP1ENSG00000115504ENST00000263991p.L534Lc.1602G>ASubstitution - coding silent
UGP2ENSG00000169764ENST00000337130p.E447Qc.1339G>CSubstitution - Missense
PNPT1ENSG00000138035ENST00000447944p.G636Dc.1907G>ASubstitution - Missense
CCDC88AENSG00000115355ENST00000336838p.V1695Ic.5083G>ASubstitution - Missense
CCDC88AENSG00000115355ENST00000263630p.V1668Ic.5002G>ASubstitution - Missense
RBM44ENSG00000177483ENST00000316997p.G795Ac.2384G>CSubstitution - Missense
RBM44ENSG00000177483ENST00000316997p.G795Ac.2384G>CSubstitution - Missense
COL6A3ENSG00000163359ENST00000295550p.L2551Lc.7653C>TSubstitution - coding silent
UGT1A4ENSG00000244474ENST00000373409p.I323Mc.969T>GSubstitution - Missense
UGT1A8ENSG00000241635ENST00000305208p.I322Mc.966T>GSubstitution - Missense
UGT1A6ENSG00000167165ENST00000305139p.I321Mc.963T>GSubstitution - Missense
UGT1A8ENSG00000241635ENST00000373450p.I319Mc.957T>GSubstitution - Missense
UGT1A7ENSG00000244122ENST00000373426p.I319Mc.957T>GSubstitution - Missense
ALPIENSG00000163295ENST00000295463p.I245Ic.735C>TSubstitution - coding silent
B3GNT7ENSG00000156966ENST00000287590p.L209Vc.625C>GSubstitution - Missense
FAM134AENSG00000144567ENST00000430297p.V438Vc.1314G>ASubstitution - coding silent
SPAG9ENSG00000008294ENST00000357122p.R1143Cc.3427C>TSubstitution - Missense
CACNA1GENSG00000006283ENST00000359106p.?c.4759+8G>AUnknown
NM_025104.2p.L11Lc.33C>GSubstitution - coding silent
UBTFENSG00000108312ENST00000302904p.?c.905+10G>CUnknown
ENST00000335500p.H673Nc.2017C>ASubstitution - Missense
FZD2ENSG00000180340ENST00000315323p.L529Lc.1587C>GSubstitution - coding silent
BRCA1ENSG00000012048ENST00000471181p.T637Tc.1911T>CSubstitution - coding silent
NBR1ENSG00000188554ENST00000422280p.D797Nc.2389G>ASubstitution - Missense
AOC3ENSG00000131471ENST00000308423p.?c.2016+8G>TUnknown
ANKFY1ENSG00000185722ENST00000574367p.L262Lc.784C>TSubstitution - coding silent
EZH1ENSG00000108799ENST00000428826p.D208Nc.622G>ASubstitution - Missense
ZZEF1ENSG00000074755ENST00000381638p.Q99*c.295C>TSubstitution - Nonsense
ACLYENSG00000131473ENST00000352035p.I844Ic.2532C>TSubstitution - coding silent
ENSG00000262304ENST00000572705p.A36Ac.108C>ASubstitution - coding silent
RAD51DENSG00000185379ENST00000394589p.?c.541-3C>AUnknown
HTR1BENSG00000135312ENST00000369947p.S179Cc.536C>GSubstitution - Missense
OR2K2ENSG00000171133ENST00000302681p.S77Fc.230C>TSubstitution - Missense
ENST00000394831p.L647Lc.1941G>ASubstitution - coding silent
ZNF462ENSG00000148143ENST00000277225p.G366Ec.1097G>ASubstitution - Missense
ZNF462ENSG00000148143ENST00000457913p.G366Ec.1097G>ASubstitution - Missense
COL14A1ENSG00000187955ENST00000297848p.Q98*c.292C>TSubstitution - Nonsense
MED30ENSG00000164758ENST00000297347p.S32Lc.95C>TSubstitution - Missense
CD109ENSG00000156535ENST00000287097p.I822Ic.2466C>TSubstitution - coding silent
EXOC2ENSG00000112685ENST00000230449p.S104Cc.311C>GSubstitution - Missense
DSTENSG00000151914ENST00000244364p.D53Hc.157G>CSubstitution - Missense
DSTENSG00000151914ENST00000370765p.D53Hc.157G>CSubstitution - Missense
DSTENSG00000151914ENST00000370765p.D53Hc.157G>CSubstitution - Missense
DSTENSG00000151914ENST00000244364p.P5000Hc.14999C>ASubstitution - Missense
DSTENSG00000151914ENST00000370769p.P7411Hc.22232C>ASubstitution - Missense
DCBLD1ENSG00000164465ENST00000296955p.G140Cc.418G>TSubstitution - Missense
DCBLD1ENSG00000164465ENST00000338728p.G140Cc.418G>TSubstitution - Missense
GRIK2ENSG00000164418ENST00000421544p.A105Sc.313G>TSubstitution - Missense
GRIK2ENSG00000164418ENST00000369138p.A105Sc.313G>TSubstitution - Missense
GRIK2ENSG00000164418ENST00000318991p.A105Sc.313G>TSubstitution - Missense
KDELR3ENSG00000100196ENST00000409006p.I138Mc.414C>GSubstitution - Missense
DMC1ENSG00000100206ENST00000216024p.?c.953+5A>TUnknown
CDC42EP1ENSG00000128283ENST00000249014p.N230Kc.690C>ASubstitution - Missense
ZNF407ENSG00000215421ENST00000582337p.E750Gc.2249A>GSubstitution - Missense
ZNF407ENSG00000215421ENST00000299687p.E750Gc.2249A>GSubstitution - Missense
PCDH11YENSG00000099715ENST00000215473p.S684Lc.2051C>TSubstitution - Missense
TBL1XENSG00000101849ENST00000407597p.A372Tc.1114G>ASubstitution - Missense
TBL1XENSG00000101849ENST00000407597p.A372Tc.1114G>ASubstitution - Missense
MCHR2ENSG00000152034ENST00000369212p.K315Tc.944A>CSubstitution - Missense
ELL2ENSG00000118985ENST00000237853p.D312Nc.934G>ASubstitution - Missense
NR2F1ENSG00000175745ENST00000327111p.F302Fc.906C>TSubstitution - coding silent
MCTP1ENSG00000175471ENST00000515393p.D860Dc.2580C>TSubstitution - coding silent
ZFYVE16ENSG00000039319ENST00000338008p.?c.3103+4G>TUnknown
LYRM7ENSG00000186687ENST00000379380p.Q102Hc.306G>CSubstitution - Missense
DMXL1ENSG00000172869ENST00000311085p.L3015Fc.9045A>CSubstitution - Missense
SH3BP2ENSG00000087266ENST00000356331p.M277Ic.831G>ASubstitution - Missense
MTNR1AENSG00000168412ENST00000307161p.R303Kc.908G>ASubstitution - Missense
DCHS2ENSG00000197410ENST00000357232p.G2417Gc.7251G>CSubstitution - coding silent
KIAA0922ENSG00000121210ENST00000409959p.R584Lc.1751G>TSubstitution - Missense
ENST00000361316p.R436Lc.1307G>TSubstitution - Missense
KIAA0922ENSG00000121210ENST00000409959p.Q1565Kc.4693C>ASubstitution - Missense
LRBAENSG00000198589ENST00000357115p.S1599Cc.4796C>GSubstitution - Missense
TTC29ENSG00000137473ENST00000325106p.L353Fc.1059G>TSubstitution - Missense
NR3C2ENSG00000151623ENST00000358102p.V157Vc.471G>ASubstitution - coding silent
HHIPENSG00000164161ENST00000296575p.G249Cc.745G>TSubstitution - Missense
ABCE1ENSG00000164163ENST00000296577p.P413Qc.1238C>ASubstitution - Missense
TBC1D9ENSG00000109436ENST00000442267p.E422Kc.1264G>ASubstitution - Missense
XM_371709.3p.R152Rc.456G>ASubstitution - coding silent
MAML3ENSG00000196782ENST00000509479p.K245Kc.735G>ASubstitution - coding silent
STAG1ENSG00000118007ENST00000383202p.E569Kc.1705G>ASubstitution - Missense
HYDINENSG00000157423ENST00000288168p.E200Kc.598G>ASubstitution - Missense
ENST00000316490_v65p.L3532Lc.10596G>ASubstitution - coding silent
CTHRC1ENSG00000164932ENST00000520337p.I66Ic.198C>TSubstitution - coding silent
SUMF2ENSG00000129103ENST00000342190p.L343Lc.1029G>ASubstitution - coding silent
ZNF479ENSG00000185177ENST00000331162p.E328Kc.982G>ASubstitution - Missense
MMD2ENSG00000136297ENST00000404774p.A40Sc.118G>TSubstitution - Missense
MMD2ENSG00000136297ENST00000401401p.A40Sc.118G>TSubstitution - Missense
COBLENSG00000106078ENST00000265136p.G565Gc.1695G>ASubstitution - coding silent
EZH2ENSG00000106462ENST00000320356p.L448Lc.1344C>TSubstitution - coding silent
OR6V1ENSG00000225781ENST00000418316p.F175Fc.525C>TSubstitution - coding silent
LRRN3ENSG00000173114ENST00000308478p.L262Lc.786C>GSubstitution - coding silent
LTAENSG00000226979ENST00000454783p.*206Yc.618G>CNonstop extension
GABBR1ENSG00000204681ENST00000377034p.?c.1993-4C>TUnknown
HLA-AENSG00000206503ENST00000396634p.G276*c.826G>TSubstitution - Nonsense
ZKSCAN3ENSG00000189298ENST00000377255p.R48Rc.144C>TSubstitution - coding silent
GABRA6ENSG00000145863ENST00000274545p.I247Tc.740T>CSubstitution - Missense
UBLCP1ENSG00000164332ENST00000296786p.G198Ac.593G>CSubstitution - Missense
FBXL7ENSG00000183580ENST00000504595p.R49_L51delRTLc.143_151delTGCGCACACDeletion - In frame
ATP10BENSG00000118322ENST00000327245p.Q880*c.2638C>TSubstitution - Nonsense
HAVCR1ENSG00000113249ENST00000339252p.T174Kc.521C>ASubstitution - Missense
PCDHGA3ENSG00000254245ENST00000253812p.E151Qc.451G>CSubstitution - Missense
PCDHB7ENSG00000113212ENST00000231137p.E544Kc.1630G>ASubstitution - Missense
PCDHB16ENSG00000196963ENST00000361016p.R715Rc.2145G>ASubstitution - coding silent
PCDHB1ENSG00000171815ENST00000306549p.H810Hc.2430T>CSubstitution - coding silent
ENST00000502505_v68p.V91Ic.271G>ASubstitution - Missense
PCDHA4ENSG00000204967ENST00000378125p.I48Mc.144C>GSubstitution - Missense
ENST00000378129p.L666Lc.1996C>TSubstitution - coding silent
APBB3ENSG00000113108ENST00000354402p.L317Lc.951G>ASubstitution - coding silent
HARSENSG00000170445ENST00000504156p.E190Qc.568G>CSubstitution - Missense
DNAH5ENSG00000039139ENST00000265104p.L2208Lc.6624C>TSubstitution - coding silent
MAGEC3ENSG00000165509ENST00000298296p.E565*c.1693G>TSubstitution - Nonsense
GPR112ENSG00000156920ENST00000394143p.Q2366*c.7096C>TSubstitution - Nonsense
ANLNENSG00000011426ENST00000265748p.F259Fc.777C>TSubstitution - coding silent
DYRK1BENSG00000105204ENST00000593685p.A36Pc.106G>CSubstitution - Missense
PSMC4ENSG00000013275ENST00000157812p.I261Ic.783C>ASubstitution - coding silent
DLL3ENSG00000090932ENST00000205143p.S335Fc.1004C>TSubstitution - Missense
ECM2ENSG00000106823ENST00000344604p.H608Yc.1822C>TSubstitution - Missense
ECM2ENSG00000106823ENST00000444490p.H586Yc.1756C>TSubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.L3320Lc.9960G>ASubstitution - coding silent
SYKENSG00000165025ENST00000375754p.E586Dc.1758G>CSubstitution - Missense
FRMD3ENSG00000172159ENST00000376434p.F3Fc.9C>TSubstitution - coding silent
VPS13AENSG00000197969ENST00000357409p.E462Kc.1384G>ASubstitution - Missense
VPS13AENSG00000197969ENST00000376634p.E462Kc.1384G>ASubstitution - Missense
NMRK1ENSG00000106733ENST00000376811p.R5Kc.14G>ASubstitution - Missense
CAMSAP1ENSG00000130559ENST00000389532p.F415Fc.1245C>TSubstitution - coding silent
LHX3ENSG00000107187ENST00000371746p.V125Vc.375G>ASubstitution - coding silent
TTF1ENSG00000125482ENST00000334270p.E295Kc.883G>ASubstitution - Missense
SPINK5ENSG00000133710ENST00000359874p.D26Yc.76G>TSubstitution - Missense
JAKMIP2ENSG00000176049ENST00000265272p.E405*c.1213G>TSubstitution - Nonsense
GNPDA1ENSG00000113552ENST00000311337p.E14Kc.40G>ASubstitution - Missense
ARHGAP26ENSG00000145819ENST00000274498p.D74Ec.222T>ASubstitution - Missense
KCTD16ENSG00000183775ENST00000512467p.D138Ec.414C>GSubstitution - Missense
PCDHGA5ENSG00000253485ENST00000518069p.L491Lc.1471C>TSubstitution - coding silent
PCDHGA5ENSG00000253485ENST00000518069p.L491Lc.1471C>TSubstitution - coding silent
TBC1D5ENSG00000131374ENST00000253692p.T170Mc.509C>TSubstitution - Missense
PLCL2ENSG00000154822ENST00000418129p.L435Lc.1305G>ASubstitution - coding silent
PLCL2ENSG00000154822ENST00000396755p.L435Lc.1305G>ASubstitution - coding silent
TJP3ENSG00000105289ENST00000262968p.I801Mc.2403C>GSubstitution - Missense
ZFP82ENSG00000181007ENST00000392161p.E95Kc.283G>ASubstitution - Missense
ZBTB32ENSG00000011590ENST00000392197p.S69Cc.206C>GSubstitution - Missense
C19orf55ENSG00000167595ENST00000396908p.S407Sc.1221C>GSubstitution - coding silent
RPAINENSG00000129197ENST00000405578p.E182*c.544G>TSubstitution - Nonsense
RPAINENSG00000129197ENST00000381209p.E182*c.544G>TSubstitution - Nonsense
ANKFN1ENSG00000153930ENST00000318698p.D490Nc.1468G>ASubstitution - Missense
PKHD1ENSG00000170927ENST00000340994p.L1478Vc.4432C>GSubstitution - Missense
PLA2G7ENSG00000146070ENST00000274793p.P131Sc.391C>TSubstitution - Missense
GPR116ENSG00000069122ENST00000265417p.?c.158-8C>TUnknown
SLC35B2ENSG00000157593ENST00000393812p.A181Ec.542C>ASubstitution - Missense
POLHENSG00000170734ENST00000372236p.E699Qc.2095G>CSubstitution - Missense
CUL9ENSG00000112659ENST00000252050p.E1100Kc.3298G>ASubstitution - Missense
ABCC10ENSG00000124574ENST00000244533p.K611Kc.1833G>ASubstitution - coding silent
UQCC2ENSG00000137288ENST00000374231p.A3Dc.8C>ASubstitution - Missense
TNXBENSG00000168477ENST00000375247p.?c.6806-10C>TUnknown
TNXBENSG00000168477ENST00000375244p.?c.6545-10C>TUnknown
MSH5ENSG00000204410ENST00000375742p.L755Fc.2263C>TSubstitution - Missense
MSH5ENSG00000204410ENST00000375703p.L739Fc.2215C>TSubstitution - Missense
ENST00000491552p.L124Fc.370C>TSubstitution - Missense
VARSENSG00000204394ENST00000375663p.H218Dc.652C>GSubstitution - Missense
HTR1AENSG00000178394ENST00000323865p.V51Lc.151G>TSubstitution - Missense
ENST00000329144p.F129Sc.386T>CSubstitution - Missense
MYO10ENSG00000145555ENST00000274203p.N338Kc.1014C>ASubstitution - Missense
FBLL1ENSG00000188573ENST00000338333p.E203Gc.608A>GSubstitution - Missense
NM_018248.1p.I218Nc.653T>ASubstitution - Missense
ENST00000342925p.E232Kc.694G>ASubstitution - Missense
WDR17ENSG00000150627ENST00000280190p.E841Kc.2521G>ASubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.L1372Lc.4116C>TSubstitution - coding silent
RXFP1ENSG00000171509ENST00000307765p.T217Ic.650C>TSubstitution - Missense
USP20ENSG00000136878ENST00000372429p.?c.1694+7G>AUnknown
ENST00000372796p.L249Lc.747G>ASubstitution - coding silent
CERCAMENSG00000167123ENST00000372842p.?c.327+3G>AUnknown
NM_003829.1p.Q1702Hc.5106G>CSubstitution - Missense
AK1ENSG00000106992ENST00000373176p.E26Dc.78G>CSubstitution - Missense
OR1L4ENSG00000136939ENST00000259466p.S172Cc.515C>GSubstitution - Missense
OR1L6ENSG00000171459ENST00000373684p.S208Cc.623C>GSubstitution - Missense
TTLL11ENSG00000175764ENST00000321582p.?c.1635+1G>TUnknown
AKNAENSG00000106948ENST00000307564p.V729Vc.2187G>ASubstitution - coding silent
KCNK9ENSG00000169427ENST00000303015p.K145Tc.434A>CSubstitution - Missense
DLC1ENSG00000164741ENST00000276297p.E313Kc.937G>ASubstitution - Missense
DLC1ENSG00000164741ENST00000316609p.E313Kc.937G>ASubstitution - Missense
ENST00000303854p.S204Rc.612T>ASubstitution - Missense
PXDNENSG00000130508ENST00000252804p.K1349Mc.4046A>TSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.L1166Lc.3498G>ASubstitution - coding silent
TOP3BENSG00000100038ENST00000357179p.Q271Hc.813G>CSubstitution - Missense
MED15ENSG00000099917ENST00000263205p.M119Ic.357G>TSubstitution - Missense
MED15ENSG00000099917ENST00000292733p.M119Ic.357G>TSubstitution - Missense
ZNF74ENSG00000185252ENST00000400451p.L403Lc.1209C>TSubstitution - coding silent
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
CRMP1ENSG00000072832ENST00000324989p.L131Lc.393C>GSubstitution - coding silent
LRRC66ENSG00000188993ENST00000343457p.S556Fc.1667C>TSubstitution - Missense
MBD5ENSG00000204406ENST00000407073p.E615Kc.1843G>ASubstitution - Missense
CDC25BENSG00000101224ENST00000245960p.E488Kc.1462G>ASubstitution - Missense
ZNF284ENSG00000186026ENST00000421176p.Q390*c.1168C>TSubstitution - Nonsense
ZNF233ENSG00000159915ENST00000391958p.E262Kc.784G>ASubstitution - Missense
XRCC1ENSG00000073050ENST00000262887p.S145Gc.433A>GSubstitution - Missense
CIB3ENSG00000141977ENST00000269878p.T47Tc.141C>GSubstitution - coding silent
AKAP8LENSG00000011243ENST00000397410p.E43Kc.127G>ASubstitution - Missense
PCSK4ENSG00000115257ENST00000300954p.D184Nc.550G>ASubstitution - Missense
OTOAENSG00000155719ENST00000388958p.?c.2302-6A>GUnknown
OTOAENSG00000155719ENST00000388957p.?c.1330-6A>GUnknown
TRAF7ENSG00000131653ENST00000326181p.?c.1503+10G>AUnknown
EEF2KENSG00000103319ENST00000263026p.W194Cc.582G>TSubstitution - Missense
EEF2KENSG00000103319ENST00000263026p.W194Cc.582G>TSubstitution - Missense
PKD1ENSG00000008710ENST00000262304p.H2947Nc.8839C>ASubstitution - Missense
TXNL4BENSG00000140830ENST00000268483p.E23Kc.67G>ASubstitution - Missense
HYDINENSG00000157423ENST00000321489p.E183Kc.547G>ASubstitution - Missense
HYDINENSG00000157423ENST00000538248p.E210Kc.628G>ASubstitution - Missense
ENST00000316490_v65p.E183Kc.547G>ASubstitution - Missense
ENST00000316490p.E183Kc.547G>ASubstitution - Missense
GRM7ENSG00000196277ENST00000357716p.L376Lc.1128G>ASubstitution - coding silent
SLC26A6ENSG00000225697ENST00000383733p.?c.2208+3G>AUnknown
IFRD2ENSG00000214706ENST00000429673p.E419Kc.1255G>ASubstitution - Missense
DNAJB11ENSG00000090520ENST00000538831p.E55Qc.163G>CSubstitution - Missense
PLCH1ENSG00000114805ENST00000494598p.Q635*c.1903C>TSubstitution - Nonsense
DHX36ENSG00000174953ENST00000544526p.G43Ec.128G>ASubstitution - Missense
KIDINS220ENSG00000134313ENST00000319688p.R287Qc.860G>ASubstitution - Missense
UGT1A8ENSG00000241635ENST00000360418p.I322Mc.966T>GSubstitution - Missense
ITGAVENSG00000138448ENST00000433736p.D44Dc.132C>TSubstitution - coding silent
DHRS9ENSG00000073737ENST00000432060p.R218Tc.653G>CSubstitution - Missense
DYNC1I2ENSG00000077380ENST00000358002p.H454Rc.1361A>GSubstitution - Missense
RAB3GAP1ENSG00000115839ENST00000539493p.L746Lc.2238C>ASubstitution - coding silent
EDARENSG00000135960ENST00000409271p.D383Hc.1147G>CSubstitution - Missense
ST6GAL2ENSG00000144057ENST00000409087p.T147Sc.439A>TSubstitution - Missense
ZNRF3ENSG00000183579ENST00000544604p.S616Lc.1847C>TSubstitution - Missense
CECR5ENSG00000069998ENST00000155674p.P196Pc.588C>TSubstitution - coding silent
AIFM3ENSG00000183773ENST00000405089p.H65Yc.193C>TSubstitution - Missense
CXADRENSG00000154639ENST00000400169p.V214Vc.642C>ASubstitution - coding silent
CBFA2T2ENSG00000078699ENST00000397798p.G83Dc.248G>ASubstitution - Missense
ZNF628ENSG00000197483ENST00000598519p.C540Cc.1620C>TSubstitution - coding silent
ZNF628ENSG00000197483ENST00000598519p.L610Vc.1828C>GSubstitution - Missense
ZNF233ENSG00000159915ENST00000334152p.E244Kc.730G>ASubstitution - Missense
AP3D1ENSG00000065000ENST00000356926p.A502Ec.1505C>ASubstitution - Missense
AP3D1ENSG00000065000ENST00000355272p.A593Ec.1778C>ASubstitution - Missense
UNC13AENSG00000130477ENST00000252773p.E1570Kc.4708G>ASubstitution - Missense
PDE4AENSG00000065989ENST00000380702p.H678Nc.2032C>ASubstitution - Missense
DTNAENSG00000134769ENST00000269191p.S33Sc.99C>ASubstitution - coding silent
CD300LFENSG00000186074ENST00000361254p.?c.613+5G>CUnknown
ANKFY1ENSG00000185722ENST00000433651p.L302Vc.904C>GSubstitution - Missense
SLC12A4ENSG00000124067ENST00000541864p.?c.1204+10G>AUnknown
APOBRENSG00000184730ENST00000564831p.G1075Rc.3223G>ASubstitution - Missense
VPS39ENSG00000166887ENST00000348544p.E594Kc.1780G>ASubstitution - Missense
MTHFD1ENSG00000100714ENST00000216605p.G471Gc.1413C>ASubstitution - coding silent
MTHFD1ENSG00000100714ENST00000216605p.H929Dc.2785C>GSubstitution - Missense
DNAJC11ENSG00000007923ENST00000451196p.R85Qc.254G>ASubstitution - Missense
COX20ENSG00000203667ENST00000366528p.R43Wc.127C>TSubstitution - Missense
RYR2ENSG00000198626ENST00000360064p.W1443Cc.4329G>CSubstitution - Missense
HHATENSG00000054392ENST00000545154p.T372Kc.1115C>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.R2547Tc.7640G>CSubstitution - Missense
CAMSAP2ENSG00000118200ENST00000236925p.E1391Kc.4171G>ASubstitution - Missense
UBR4ENSG00000127481ENST00000375267p.G4854Gc.14562C>ASubstitution - coding silent
UBR4ENSG00000127481ENST00000375267p.Q847*c.2539C>TSubstitution - Nonsense
FCRL5ENSG00000143297ENST00000356953p.C335Fc.1004G>TSubstitution - Missense
ADARENSG00000160710ENST00000292205p.E431Qc.1291G>CSubstitution - Missense
ADARENSG00000160710ENST00000292205p.Q163Hc.489G>CSubstitution - Missense
ARHGEF11ENSG00000132694ENST00000315174p.?c.469+3G>CUnknown
PLOD1ENSG00000083444ENST00000376369p.S499Lc.1496C>TSubstitution - Missense
DCLK1ENSG00000133083ENST00000379892p.S158Wc.473C>GSubstitution - Missense
SHMT2ENSG00000182199ENST00000393827p.W6Sc.17G>CSubstitution - Missense
ANO6ENSG00000177119ENST00000441606p.K766Rc.2297A>GSubstitution - Missense
EP400ENSG00000183495ENST00000333577p.V72Mc.214G>ASubstitution - Missense
TPCN1ENSG00000186815ENST00000551099p.D7Ac.20A>CSubstitution - Missense
SHANK2ENSG00000162105ENST00000423696p.P988Pc.2964C>ASubstitution - coding silent
TNKS1BP1ENSG00000149115ENST00000358252p.P1139Lc.3416C>TSubstitution - Missense
OR8J3ENSG00000167822ENST00000301529p.C179Fc.536G>TSubstitution - Missense
UBQLN3ENSG00000175520ENST00000311659p.K68Nc.204A>CSubstitution - Missense
TRIM49BENSG00000182053ENST00000332682p.I448Ic.1344C>TSubstitution - coding silent
SIDT2ENSG00000149577ENST00000278951p.C335Sc.1004G>CSubstitution - Missense
TCTN3ENSG00000119977ENST00000371217p.Q311Hc.933G>CSubstitution - Missense
ARMC4ENSG00000169126ENST00000545014p.E527Kc.1579G>ASubstitution - Missense
VIMENSG00000026025ENST00000421459p.R130Qc.389G>ASubstitution - Missense
CACNB2ENSG00000165995ENST00000377315p.P33Qc.98C>ASubstitution - Missense
NBEAENSG00000172915ENST00000400445p.G2902Ec.8705G>ASubstitution - Missense
OR5AS1ENSG00000181785ENST00000313555p.R318Cc.952C>TSubstitution - Missense
TAS2R1ENSG00000169777ENST00000382492p.L12Fc.34C>TSubstitution - Missense
IQSEC1ENSG00000144711ENST00000429247p.L363Vc.1087C>GSubstitution - Missense
REPS2ENSG00000169891ENST00000357277p.K448Nc.1344G>TSubstitution - Missense
IQCEENSG00000106012ENST00000402050p.E247*c.739G>TSubstitution - Nonsense
MAD2L1ENSG00000164109ENST00000296509p.K108Nc.324G>CSubstitution - Missense
CDH18ENSG00000145526ENST00000382275p.?c.812-4C>TUnknown
ABCB5ENSG00000004846ENST00000258738p.?c.202-1G>AUnknown
DYSFENSG00000135636ENST00000258104p.?c.1753-10C>TUnknown
RGPD3ENSG00000153165ENST00000409886p.V733Vc.2199C>GSubstitution - coding silent
PPIP5K2ENSG00000145725ENST00000321521p.Y541Nc.1621T>ASubstitution - Missense
ENST00000342088p.P553Lc.1658C>TSubstitution - Missense
MYH8ENSG00000133020ENST00000403437p.M360Ic.1080G>CSubstitution - Missense
ENST00000398617p.E113Kc.337G>ASubstitution - Missense
RTCBENSG00000100220ENST00000216038p.G183Rc.547G>CSubstitution - Missense
ST8SIA5ENSG00000101638ENST00000315087p.S7Lc.20C>TSubstitution - Missense
ENST00000242365_v65p.P1840Rc.5519C>GSubstitution - Missense
NM_014916p.E598Kc.1792G>ASubstitution - Missense
KLF3ENSG00000109787ENST00000261438p.P205Sc.613C>TSubstitution - Missense
KCTD8ENSG00000183783ENST00000360029p.E133Kc.397G>ASubstitution - Missense
CCDC178ENSG00000166960ENST00000383096p.E112Kc.334G>ASubstitution - Missense
PDE4AENSG00000065989ENST00000440014p.H639Nc.1915C>ASubstitution - Missense
GLIS3ENSG00000107249ENST00000324333p.E439Kc.1315G>ASubstitution - Missense
RNF128ENSG00000133135ENST00000324342p.E83Kc.247G>ASubstitution - Missense
PNPLA6ENSG00000032444ENST00000414982p.T306Nc.917C>ASubstitution - Missense
UPF3AENSG00000169062ENST00000375299p.E376Qc.1126G>CSubstitution - Missense
WARSENSG00000140105ENST00000392882p.A31Ac.93G>ASubstitution - coding silent
PPFIBP1ENSG00000110841ENST00000228425p.V749Vc.2247T>GSubstitution - coding silent
HMCN1ENSG00000143341ENST00000271588p.E1044Kc.3130G>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.Q2096Qc.6288G>ASubstitution - coding silent
MUC6ENSG00000184956ENST00000421673p.T668Pc.2002A>CSubstitution - Missense
ALKBH8ENSG00000137760ENST00000428149p.R276Lc.827G>TSubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.E3053Kc.9157G>ASubstitution - Missense
GABRG3ENSG00000182256ENST00000333743p.V268Vc.804G>TSubstitution - coding silent
NCAPD3ENSG00000151503ENST00000534548p.V1148Ic.3442G>ASubstitution - Missense
CATSPER3ENSG00000152705ENST00000282611p.R152Cc.454C>TSubstitution - Missense
NODALENSG00000156574ENST00000287139p.D120Nc.358G>ASubstitution - Missense
HDAC6ENSG00000094631ENST00000444343p.E793Qc.2377G>CSubstitution - Missense
FAM120AENSG00000048828ENST00000333936p.R760Wc.2278C>TSubstitution - Missense
IDNKENSG00000148057ENST00000376419p.E153Qc.457G>CSubstitution - Missense
PCSK5ENSG00000099139ENST00000424854p.V273Mc.817G>ASubstitution - Missense
CAMSAP1ENSG00000130559ENST00000409386p.F426Fc.1278C>TSubstitution - coding silent
MPDZENSG00000107186ENST00000319217p.Q1702Hc.5106G>CSubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.G612Cc.1834G>TSubstitution - Missense
PLECENSG00000178209ENST00000356346p.I4095Mc.12285C>GSubstitution - Missense
ZSCAN21ENSG00000166529ENST00000543588p.K147Kc.441G>ASubstitution - coding silent
RABGEF1ENSG00000154710ENST00000437078p.L388Fc.1164G>CSubstitution - Missense
COBLENSG00000106078ENST00000395542p.G647Gc.1941G>ASubstitution - coding silent
ABCB8ENSG00000197150ENST00000542328p.?c.1752+8G>TUnknown
LAMB4ENSG00000091128ENST00000388780p.K426Nc.1278A>TSubstitution - Missense
LAMB4ENSG00000091128ENST00000414450p.K426Nc.1278A>TSubstitution - Missense
CADPS2ENSG00000081803ENST00000313070p.?c.2178-3C>TUnknown
SLC25A27ENSG00000153291ENST00000411689p.Q156Rc.467A>GSubstitution - Missense
ABCC10ENSG00000124574ENST00000372530p.K639Kc.1917G>ASubstitution - coding silent
KDM1BENSG00000165097ENST00000388870p.A689Ac.2067C>ASubstitution - coding silent
HLA-AENSG00000206503ENST00000376806p.G276*c.826G>TSubstitution - Nonsense
UGT3A1ENSG00000145626ENST00000333811p.Q4*c.10C>TSubstitution - Nonsense
CCDC152ENSG00000198865ENST00000361970p.F24Fc.72C>TSubstitution - coding silent
JAKMIP2ENSG00000176049ENST00000507386p.E405*c.1213G>TSubstitution - Nonsense
PPIP5K2ENSG00000145725ENST00000358359p.Y541Nc.1621T>ASubstitution - Missense
DMXL1ENSG00000172869ENST00000539542p.L3036Fc.9108A>CSubstitution - Missense
SPAG9ENSG00000008294ENST00000505279p.R1147Cc.3439C>TSubstitution - Missense
SGPL1ENSG00000166224ENST00000299297p.Q102*c.304C>TSubstitution - Nonsense
MUC12ENSG00000205277ENST00000379442p.T2871fs*13c.8610_8611delCADeletion - Frameshift
TTC29ENSG00000137473ENST00000513335p.L379Fc.1137G>TSubstitution - Missense
NID1ENSG00000116962ENST00000264187p.?c.3056-4C>TUnknown
GYS2ENSG00000111713ENST00000261195p.R309Pc.926G>CSubstitution - Missense
ART1ENSG00000129744ENST00000250693p.K283Kc.849G>ASubstitution - coding silent
ENST00000334203p.L185Pc.554T>CSubstitution - Missense
KCNK9ENSG00000169427ENST00000522317p.K145Tc.434A>CSubstitution - Missense
MYO10ENSG00000145555ENST00000513610p.N338Kc.1014C>ASubstitution - Missense
VPS16ENSG00000215305ENST00000380443p.?c.1232+7G>AUnknown
HHATENSG00000054392ENST00000391905p.T371Kc.1112C>ASubstitution - Missense
AFAP1L2ENSG00000169129ENST00000545353p.T841Ic.2522C>TSubstitution - Missense
OR10H1ENSG00000186723ENST00000334920p.F12Fc.36C>TSubstitution - coding silent
ZNF285ENSG00000267508ENST00000330997p.R48Kc.143G>ASubstitution - Missense
HDAC9ENSG00000048052ENST00000441542p.A967Tc.2899G>ASubstitution - Missense
PDCL2ENSG00000163440ENST00000295645p.E9Qc.25G>CSubstitution - Missense
OFD1ENSG00000046651ENST00000340096p.E903Vc.2708A>TSubstitution - Missense
PHIPENSG00000146247ENST00000275034p.Q1623Ec.4867C>GSubstitution - Missense
RAD51DENSG00000185379ENST00000345365p.?c.481-3C>AUnknown
PCDHGC3ENSG00000240184ENST00000308177p.A251Gc.752C>GSubstitution - Missense
SIPA1L3ENSG00000105738ENST00000222345p.M1706Ic.5118G>ASubstitution - Missense
GNAI1ENSG00000127955ENST00000351004p.D328Nc.982G>ASubstitution - Missense
FAM65AENSG00000039523ENST00000042381p.I592Tc.1775T>CSubstitution - Missense
KIAA1109ENSG00000138688ENST00000264501p.M4343Ic.13029G>ASubstitution - Missense
ENST00000356539_v65p.E362Kc.1084G>ASubstitution - Missense
TRANK1ENSG00000168016ENST00000429976p.L2318Lc.6954C>TSubstitution - coding silent
GRID2ENSG00000152208ENST00000282020p.E42Ec.126G>ASubstitution - coding silent
KCNJ2ENSG00000123700ENST00000243457p.G31Wc.91G>TSubstitution - Missense
EHD3ENSG00000013016ENST00000322054p.L496Lc.1488G>ASubstitution - coding silent
CASP8ENSG00000064012ENST00000264275p.H272Yc.814C>TSubstitution - Missense
NBEAL1ENSG00000144426ENST00000449802p.E2288Qc.6862G>CSubstitution - Missense
LMTK2ENSG00000164715ENST00000297293p.E598Kc.1792G>ASubstitution - Missense
EEF1DENSG00000104529ENST00000442189p.Q637Qc.1911G>ASubstitution - coding silent
ROBO2ENSG00000185008ENST00000461745p.L503Vc.1507C>GSubstitution - Missense
GABRA4ENSG00000109158ENST00000264318p.Q223Qc.669A>GSubstitution - coding silent
NM_032217.3p.H1398Yc.4192C>TSubstitution - Missense
CORO2AENSG00000106789ENST00000343933p.A211Ec.632C>ASubstitution - Missense
CA2ENSG00000104267ENST00000285379p.E237Kc.709G>ASubstitution - Missense
SIGLEC11ENSG00000161640ENST00000447370p.L528Lc.1584C>TSubstitution - coding silent
LILRA2ENSG00000239998ENST00000251376p.L208Vc.622C>GSubstitution - Missense
TTNENSG00000155657ENST00000360870p.W3686Lc.11057G>TSubstitution - Missense
FERMT2ENSG00000073712ENST00000395631p.D57Yc.169G>TSubstitution - Missense
UBR7ENSG00000012963ENST00000013070p.?c.602-10G>AUnknown
ETNK1ENSG00000139163ENST00000335148p.D180Hc.538G>CSubstitution - Missense
FAT3ENSG00000165323ENST00000409404p.D4023Dc.12069C>TSubstitution - coding silent
TMEM86AENSG00000151117ENST00000280734p.Y107Yc.321C>TSubstitution - coding silent
CACNB2ENSG00000165995ENST00000352115p.P81Qc.242C>ASubstitution - Missense
ENSG00000269049ENST00000599734p.I70Ic.210C>TSubstitution - coding silent
MTHFRENSG00000177000ENST00000376592p.D210Nc.628G>ASubstitution - Missense
HNRNPH3ENSG00000096746ENST00000265866p.E264Qc.790G>CSubstitution - Missense
VPS13DENSG00000048707ENST00000358136p.?c.2237-6C>AUnknown
ENST00000343162p.Q142Hc.426G>CSubstitution - Missense
TCTN3ENSG00000119977ENST00000265993p.Q293Hc.879G>CSubstitution - Missense
TIMELESSENSG00000111602ENST00000553532p.L750Lc.2250C>TSubstitution - coding silent
CD276ENSG00000103855ENST00000318443p.?c.1546+9G>AUnknown
TAS2R42ENSG00000186136ENST00000334266p.F239Fc.717C>TSubstitution - coding silent
ABTB2ENSG00000166016ENST00000298992p.I702Ic.2106C>TSubstitution - coding silent
ADARENSG00000160710ENST00000292205p.L475Lc.1425G>ASubstitution - coding silent
FCRL5ENSG00000143297ENST00000368189p.C335Fc.1004G>TSubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.I1222Ic.3666C>TSubstitution - coding silent
TENM3ENSG00000218336ENST00000511685p.G375Vc.1124G>TSubstitution - Missense
PKHD1ENSG00000170927ENST00000371117p.L1478Vc.4432C>GSubstitution - Missense
ENST00000319379p.S3506Sc.10518C>TSubstitution - coding silent
PCDHA7ENSG00000204963ENST00000525929p.I48Mc.144C>GSubstitution - Missense
PCDHGB6ENSG00000253305ENST00000520790p.E271Kc.811G>ASubstitution - Missense
MCF2L2ENSG00000053524ENST00000328913p.E693Kc.2077G>ASubstitution - Missense
MAN1A1ENSG00000111885ENST00000368468p.M517Ic.1551G>ASubstitution - Missense
P4HA3ENSG00000149380ENST00000331597p.V399Vc.1197T>GSubstitution - coding silent
BIN2ENSG00000110934ENST00000267012p.D518Nc.1552G>ASubstitution - Missense
SLC4A8ENSG00000050438ENST00000358657p.F416Lc.1248C>ASubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.D1324Nc.3970G>ASubstitution - Missense
CELF6ENSG00000140488ENST00000287202p.K468Tc.1403A>CSubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.E402Qc.1204G>CSubstitution - Missense
PCSK5ENSG00000099139ENST00000545128p.V600Mc.1798G>ASubstitution - Missense
ITGA6ENSG00000091409ENST00000264106p.I448Mc.1344C>GSubstitution - Missense
MTHFRENSG00000177000ENST00000376583p.G162Cc.484G>TSubstitution - Missense
CERS6ENSG00000172292ENST00000305747p.S336Sc.1008C>ASubstitution - coding silent
FAM135BENSG00000147724ENST00000395297p.I1222Ic.3666C>TSubstitution - coding silent
ENST00000303890p.L225Lc.675G>ASubstitution - coding silent
USP20ENSG00000136878ENST00000315480p.?c.1694+7G>AUnknown
ANXA10ENSG00000109511ENST00000359299p.M53Ic.159G>ASubstitution - Missense
FGFR3ENSG00000068078ENST00000440486p.?c.931-8C>GUnknown
ZYXENSG00000159840ENST00000322764p.?c.1315-3C>GUnknown
OR2W1ENSG00000204704ENST00000377175p.E180Dc.540G>CSubstitution - Missense
PKD1L1ENSG00000158683ENST00000289672p.E1593Kc.4777G>ASubstitution - Missense
CTHRC1ENSG00000164932ENST00000330295p.I80Ic.240C>TSubstitution - coding silent
ANKHD1ENSG00000131503ENST00000360839p.E2029Qc.6085G>CSubstitution - Missense
SPINK5ENSG00000133710ENST00000256084p.D26Yc.76G>TSubstitution - Missense
ANKFY1ENSG00000185722ENST00000574367p.L302Vc.904C>GSubstitution - Missense
COL14A1ENSG00000187955ENST00000297848p.R971Sc.2913G>TSubstitution - Missense
ICAM1ENSG00000090339ENST00000264832p.Q348Kc.1042C>ASubstitution - Missense
GYPEENSG00000197465ENST00000358615p.V15Vc.45G>ASubstitution - coding silent
ENST00000358511_v70p.L876Lc.2628C>ASubstitution - coding silent
EEFSECENSG00000132394ENST00000254730p.D365Yc.1093G>TSubstitution - Missense
CTDNEP1ENSG00000175826ENST00000318988p.?c.170-3C>AUnknown
SCN10AENSG00000185313ENST00000449082p.P18Ac.52C>GSubstitution - Missense
WIPI1ENSG00000070540ENST00000262139p.S199Sc.597C>ASubstitution - coding silent
TTC28ENSG00000100154ENST00000397906p.E851Kc.2551G>ASubstitution - Missense
RFPL3ENSG00000128276ENST00000397468p.L110Lc.330C>ASubstitution - coding silent
ACSF3ENSG00000176715ENST00000317447p.V484Vc.1452C>TSubstitution - coding silent
ANKMY1ENSG00000144504ENST00000391987p.P585Lc.1754C>TSubstitution - Missense
ENST00000356127p.E22866Kc.68596G>ASubstitution - Missense
KIF3BENSG00000101350ENST00000375712p.F77Lc.231C>GSubstitution - Missense
SLC25A13ENSG00000004864ENST00000265631p.A15Ac.45T>CSubstitution - coding silent
CORINENSG00000145244ENST00000273857p.S492Fc.1475C>TSubstitution - Missense
EPHA3ENSG00000044524ENST00000336596p.M285Ic.855G>ASubstitution - Missense
CCNIENSG00000118816ENST00000237654p.S252Fc.755C>TSubstitution - Missense
PDE4AENSG00000065989ENST00000344979p.H461Nc.1381C>ASubstitution - Missense
ZNF491ENSG00000177599ENST00000323169p.P74Sc.220C>TSubstitution - Missense
ENST00000554864_v68p.S33Sc.99C>ASubstitution - coding silent
DTNAENSG00000134769ENST00000554864p.S33Sc.99C>ASubstitution - coding silent
SPECC1ENSG00000128487ENST00000395527p.E454Kc.1360G>ASubstitution - Missense
RGS9ENSG00000108370ENST00000262406p.?c.312+3G>AUnknown
KCNH6ENSG00000173826ENST00000583023p.D644Nc.1930G>ASubstitution - Missense
KDM4CENSG00000107077ENST00000381306p.S8Ic.23G>TSubstitution - Missense
SIGLEC10ENSG00000142512ENST00000339313p.?c.1024+3G>CUnknown
PNPLA6ENSG00000032444ENST00000221249p.T258Nc.773C>ASubstitution - Missense
MYBBP1AENSG00000132382ENST00000254718p.K1076Ec.3226A>GSubstitution - Missense
ERO1LENSG00000197930ENST00000395686p.?c.629+9C>AUnknown
MCOLN3ENSG00000055732ENST00000370587p.D173Nc.517G>ASubstitution - Missense
ETNK1ENSG00000139163ENST00000266517p.D180Hc.538G>CSubstitution - Missense
ENST00000298047_v61p.D4023Dc.12069C>TSubstitution - coding silent
KCNC2ENSG00000166006ENST00000298972p.S205Fc.614C>TSubstitution - Missense
NXPE1ENSG00000095110ENST00000424269p.D448Ec.1344C>ASubstitution - Missense
BRINP2ENSG00000198797ENST00000361539p.L717Lc.2151C>TSubstitution - coding silent
CACNB2ENSG00000165995ENST00000396576p.P26Qc.77C>ASubstitution - Missense
HIPK3ENSG00000110422ENST00000303296p.Q673*c.2017C>TSubstitution - Nonsense
ARMC4ENSG00000169126ENST00000305242p.E1002Kc.3004G>ASubstitution - Missense
KDM2BENSG00000089094ENST00000377071p.V1251Vc.3753C>TSubstitution - coding silent
MCMBPENSG00000197771ENST00000360003p.Q313Qc.939G>ASubstitution - coding silent
CD248ENSG00000174807ENST00000311330p.L655Fc.1965G>TSubstitution - Missense
GDF6ENSG00000156466ENST00000287020p.G311Rc.931G>ASubstitution - Missense
XM_291314.4p.G823Cc.2467G>TSubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.H307Yc.919C>TSubstitution - Missense
ADAM33ENSG00000149451ENST00000356518p.?c.1134-6C>TUnknown
ZNF562ENSG00000171466ENST00000453372p.Y121*c.363C>ASubstitution - Nonsense
GBP2ENSG00000162645ENST00000370466p.E249Kc.745G>ASubstitution - Missense
BMFENSG00000104081ENST00000354670p.Q80Kc.238C>ASubstitution - Missense
XM_031689.7p.Q1615*c.4843C>TSubstitution - Nonsense
PLEKHH1ENSG00000054690ENST00000329153p.E577Qc.1729G>CSubstitution - Missense
ULK1ENSG00000177169ENST00000321867p.L490Lc.1470G>TSubstitution - coding silent
OR14K1ENSG00000153230ENST00000283225p.V76Vc.228C>TSubstitution - coding silent
BCL9ENSG00000116128ENST00000234739p.S788Pc.2362T>CSubstitution - Missense
ATHL1ENSG00000142102ENST00000409548p.?c.1614+3G>AUnknown
SENP1ENSG00000079387ENST00000448372p.G410fs*3c.1219_1220insAInsertion - Frameshift
PPRC1ENSG00000148840ENST00000278070p.H1136Hc.3408C>TSubstitution - coding silent
GALNT6ENSG00000139629ENST00000356317p.F443Lc.1329C>GSubstitution - Missense
SLC4A8ENSG00000050438ENST00000453097p.F389Lc.1167C>ASubstitution - Missense
CYP1A1ENSG00000140465ENST00000395048p.F258Fc.774C>TSubstitution - coding silent
EPRSENSG00000136628ENST00000366923p.E1321Kc.3961G>ASubstitution - Missense
LMO7ENSG00000136153ENST00000341547p.E1023Kc.3067G>ASubstitution - Missense
MAP3K2ENSG00000169967ENST00000409947p.S9Lc.26C>TSubstitution - Missense
PCSK5ENSG00000099139ENST00000376752p.V600Mc.1798G>ASubstitution - Missense
SPOPLENSG00000144228ENST00000280098p.L69Lc.207G>ASubstitution - coding silent
C6orf118ENSG00000112539ENST00000543069p.L245Lc.735G>TSubstitution - coding silent
CSTF2ENSG00000101811ENST00000415585p.Q547Qc.1641G>ASubstitution - coding silent
SERPINB5ENSG00000206075ENST00000489441p.G192Wc.574G>TSubstitution - Missense
ENST00000319144_v70p.K119Nc.357G>CSubstitution - Missense
GRM7ENSG00000196277ENST00000403881p.L376Lc.1128G>ASubstitution - coding silent
TKTL2ENSG00000151005ENST00000280605p.I536Ic.1608C>TSubstitution - coding silent
ATP13A4ENSG00000127249ENST00000342695p.S929Lc.2786C>TSubstitution - Missense
ZNF76ENSG00000065029ENST00000373953p.I404Rc.1211T>GSubstitution - Missense
ENSG00000249034ENST00000502505p.V91Ic.271G>ASubstitution - Missense
EPB41L2ENSG00000079819ENST00000368128p.E852Kc.2554G>ASubstitution - Missense
VPS13AENSG00000197969ENST00000360280p.E462Kc.1384G>ASubstitution - Missense
ZCCHC10ENSG00000155329ENST00000324170p.K169Nc.507G>CSubstitution - Missense
LMBRD1ENSG00000168216ENST00000370577p.Q474*c.1420C>TSubstitution - Nonsense
CCDC80ENSG00000091986ENST00000206423p.S364Sc.1092C>ASubstitution - coding silent
NM_032143.1p.?c.1630-8G>TUnknown
C6orf226ENSG00000221821ENST00000408925p.E48Kc.142G>ASubstitution - Missense
CYP2D6ENSG00000100197ENST00000359033p.*447Yc.1341G>TNonstop extension
RUVBL1ENSG00000175792ENST00000322623p.M359Ic.1077G>CSubstitution - Missense
UGT1A5ENSG00000240224ENST00000373414p.I323Mc.969T>GSubstitution - Missense
DTX2ENSG00000091073ENST00000324432p.H61Hc.183C>TSubstitution - coding silent
ETNPPLENSG00000164089ENST00000296486p.P151Ac.451C>GSubstitution - Missense
RBBP8NLENSG00000130701ENST00000252998p.R10Rc.30G>ASubstitution - coding silent
DNAH9ENSG00000007174ENST00000262442p.L344Lc.1032G>ASubstitution - coding silent
ZNF205ENSG00000122386ENST00000219091p.A417Ac.1251C>ASubstitution - coding silent
LOXHD1ENSG00000167210ENST00000536736p.?c.5997-7C>TUnknown
ANKRD30BENSG00000180777ENST00000447268p.V589Mc.1765G>ASubstitution - Missense
FASTKD5ENSG00000215251ENST00000380266p.F365Lc.1095C>ASubstitution - Missense
KIAA0319ENSG00000137261ENST00000378214p.T460Ic.1379C>TSubstitution - Missense
DCDC2ENSG00000146038ENST00000378450p.F42Fc.126C>TSubstitution - coding silent
PDE4AENSG00000065989ENST00000352831p.H700Nc.2098C>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.E301Kc.901G>ASubstitution - Missense
MTFR1ENSG00000066855ENST00000262146p.G3Cc.7G>TSubstitution - Missense
PFN1ENSG00000108518ENST00000225655p.D9Ec.27C>ASubstitution - Missense
DNAJC11ENSG00000007923ENST00000377577p.R109Qc.326G>ASubstitution - Missense
ING1ENSG00000153487ENST00000375774p.E373Kc.1117G>ASubstitution - Missense
KIF23ENSG00000137807ENST00000537891p.E331Kc.991G>ASubstitution - Missense
CAMSAP2ENSG00000118200ENST00000358823p.E1380Kc.4138G>ASubstitution - Missense
ENST00000393689p.V33Vc.99G>TSubstitution - coding silent
FAM13CENSG00000148541ENST00000422313p.?c.593-8T>AUnknown
NXF1ENSG00000162231ENST00000294172p.E365Ec.1095A>GSubstitution - coding silent
NLRP14ENSG00000158077ENST00000299481p.T377Tc.1131T>GSubstitution - coding silent
ENSG00000172901ENST00000357872p.S737Cc.2210C>GSubstitution - Missense
PRR14LENSG00000183530ENST00000327423p.P1164Rc.3491C>GSubstitution - Missense
KIAA1549ENSG00000122778ENST00000422774p.P1906Rc.5717C>GSubstitution - Missense
DSCAMENSG00000171587ENST00000400454p.V35fs*16c.103_115del13Deletion - Frameshift
NFIXENSG00000008441ENST00000360105p.R229Tc.686G>CSubstitution - Missense
ALOXE3ENSG00000179148ENST00000318227p.D370Gc.1109A>GSubstitution - Missense
ENDOVENSG00000173818ENST00000323854p.R129Lc.386G>TSubstitution - Missense
ACTL9ENSG00000181786ENST00000324436p.E273Kc.817G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.D4149Nc.12445G>ASubstitution - Missense
COL24A1ENSG00000171502ENST00000370571p.?c.2004+3G>CUnknown
PPFIBP1ENSG00000110841ENST00000318304p.G351Gc.1053A>GSubstitution - coding silent
ENST00000338282p.D1073Nc.3217G>ASubstitution - Missense
EME2ENSG00000197774ENST00000307394p.G184Rc.550G>ASubstitution - Missense
MACF1ENSG00000127603ENST00000361689p.A1222Sc.3664G>TSubstitution - Missense
PLOD1ENSG00000083444ENST00000196061p.S452Lc.1355C>TSubstitution - Missense
MTF1ENSG00000188786ENST00000373036p.L362Lc.1086C>TSubstitution - coding silent
ARHGAP30ENSG00000186517ENST00000368013p.?c.98-8G>TUnknown
RYR2ENSG00000198626ENST00000366574p.W1445Cc.4335G>CSubstitution - Missense
SHANK2ENSG00000162105ENST00000294018p.P772Pc.2316C>ASubstitution - coding silent
METTL17ENSG00000165792ENST00000339374p.Q209Kc.625C>ASubstitution - Missense
ACTN2ENSG00000077522ENST00000366578p.R492*c.1474C>TSubstitution - Nonsense
SU_OBSCN.1p.A8136Ec.24407C>ASubstitution - Missense
PKNOX2ENSG00000165495ENST00000298282p.Q200Rc.599A>GSubstitution - Missense
ENST00000339692p.P59Pc.177C>GSubstitution - coding silent
NM_000770.2p.G384Gc.1152C>ASubstitution - coding silent
LMO7ENSG00000136153ENST00000357063p.E1321Dc.3963G>CSubstitution - Missense
PPIGENSG00000138398ENST00000260970p.I14Ic.42T>CSubstitution - coding silent
DHRS9ENSG00000073737ENST00000357546p.R158Tc.473G>CSubstitution - Missense
MEP1AENSG00000112818ENST00000230588p.R653Qc.1958G>ASubstitution - Missense
TOP3BENSG00000100038ENST00000357179p.Q271Hc.813G>CSubstitution - Missense
MRPS12ENSG00000128626ENST00000308018p.G112Gc.336C>TSubstitution - coding silent
DYRK1BENSG00000105204ENST00000348817p.A36Pc.106G>CSubstitution - Missense
HLA-BENSG00000234745ENST00000412585p.?c.73+7G>TUnknown
MICBENSG00000204516ENST00000252229p.R181Hc.542G>ASubstitution - Missense
ORC3ENSG00000135336ENST00000257789p.E539Kc.1615G>ASubstitution - Missense
PCDHGC3ENSG00000240184ENST00000308177p.A251Gc.752C>GSubstitution - Missense
ATAD5ENSG00000176208ENST00000321990p.E677Qc.2029G>CSubstitution - Missense
TIGD6ENSG00000164296ENST00000296736p.E56Kc.166G>ASubstitution - Missense
SYKENSG00000165025ENST00000375751p.E563Dc.1689G>CSubstitution - Missense
ABLIM3ENSG00000173210ENST00000309868p.S328Fc.983C>TSubstitution - Missense
HHIPENSG00000164161ENST00000434550p.G249Cc.745G>TSubstitution - Missense
SLC27A6ENSG00000113396ENST00000262462p.Q611*c.1831C>TSubstitution - Nonsense
ANKS6ENSG00000165138ENST00000353234p.S497Fc.1490C>TSubstitution - Missense
KDELR3ENSG00000100196ENST00000216014p.I138Mc.414C>GSubstitution - Missense
PHF8ENSG00000172943ENST00000338154p.G332Gc.996G>TSubstitution - coding silent
IQGAP2ENSG00000145703ENST00000274364p.M860Ic.2580G>ASubstitution - Missense
ZNF93ENSG00000184635ENST00000343769p.S465Fc.1394C>TSubstitution - Missense
CNTN6ENSG00000134115ENST00000446702p.I529Fc.1585A>TSubstitution - Missense
CYP2D6ENSG00000100197ENST00000360608p.*498Yc.1494G>TNonstop extension
ALPPENSG00000163283ENST00000392027p.E274Kc.820G>ASubstitution - Missense
CDH18ENSG00000145526ENST00000507958p.?c.812-4C>TUnknown
ADGBENSG00000118492ENST00000367493p.R333Qc.998G>ASubstitution - Missense
PCDH10ENSG00000138650ENST00000264360p.?c.2798-10C>TUnknown
SLC16A5ENSG00000170190ENST00000580123p.F308Fc.924C>TSubstitution - coding silent
AMZ2ENSG00000196704ENST00000392720p.L193Wc.578T>GSubstitution - Missense
ZNF628ENSG00000197483ENST00000391718p.C536Cc.1608C>TSubstitution - coding silent
ZNF385DENSG00000151789ENST00000281523p.R21Hc.62G>ASubstitution - Missense
HIST1H4EENSG00000198518ENST00000360441p.A84Ac.252G>ASubstitution - coding silent
TRPV6ENSG00000165125ENST00000359396p.L496Lc.1488G>CSubstitution - coding silent
MIS18AENSG00000159055ENST00000290130p.?c.335-8G>CUnknown
KLF3ENSG00000109787ENST00000261438p.Q58Qc.174G>ASubstitution - coding silent
SALL1ENSG00000103449ENST00000251020p.S1116Fc.3347C>TSubstitution - Missense
DOK4ENSG00000125170ENST00000340099p.I82Ic.246C>TSubstitution - coding silent
DTNAENSG00000134769ENST00000269190p.S33Sc.99C>ASubstitution - coding silent
WNT10AENSG00000135925ENST00000258411p.G158Cc.472G>TSubstitution - Missense
DMDENSG00000198947ENST00000378677p.E1983Kc.5947G>ASubstitution - Missense
ROCK2ENSG00000134318ENST00000315872p.R881Tc.2642G>CSubstitution - Missense
SYTL3ENSG00000164674ENST00000297239p.M207Tc.620T>CSubstitution - Missense
ADGBENSG00000118492ENST00000367488p.R111Qc.332G>ASubstitution - Missense
ABCA10ENSG00000154263ENST00000269081p.S1271Lc.3812C>TSubstitution - Missense
AURKCENSG00000105146ENST00000302804p.Q286Kc.856C>ASubstitution - Missense
ZNF880ENSG00000221923ENST00000422689p.F389Fc.1167C>TSubstitution - coding silent
HECW2ENSG00000138411ENST00000260983p.G1235Ac.3704G>CSubstitution - Missense
ORC2ENSG00000115942ENST00000234296p.S103Yc.308C>ASubstitution - Missense
ENST00000309305p.H431Yc.1291C>TSubstitution - Missense
STAU2ENSG00000040341ENST00000521210p.F144Fc.432C>TSubstitution - coding silent
ZNF532ENSG00000074657ENST00000336078p.Q1232*c.3694C>TSubstitution - Nonsense
SLC17A4ENSG00000146039ENST00000377905p.L200Lc.600C>TSubstitution - coding silent
DNAH1ENSG00000114841ENST00000420323p.A2421Ac.7263A>GSubstitution - coding silent
FAM64AENSG00000129195ENST00000250056p.D243Nc.727G>ASubstitution - Missense
FAM208AENSG00000163946ENST00000431842p.P479Tc.1435C>ASubstitution - Missense
SIGLEC1ENSG00000088827ENST00000344754p.T926Tc.2778C>ASubstitution - coding silent
PHACTR3ENSG00000087495ENST00000371015p.S149Lc.446C>TSubstitution - Missense
MYH7BENSG00000078814ENST00000262873p.L1567Lc.4701C>TSubstitution - coding silent
TASP1ENSG00000089123ENST00000337743p.S156Lc.467C>TSubstitution - Missense
UNC80ENSG00000144406ENST00000439458p.R523Qc.1568G>ASubstitution - Missense
AP5M1ENSG00000053770ENST00000261558p.F312Lc.936C>ASubstitution - Missense
FANCMENSG00000187790ENST00000267430p.S956Lc.2867C>TSubstitution - Missense
EP400ENSG00000183495ENST00000389561p.C1739Fc.5216G>TSubstitution - Missense
ABCG4ENSG00000172350ENST00000307417p.R587Lc.1760G>TSubstitution - Missense
ENST00000417177p.?c.1456-5C>AUnknown
C10orf71ENSG00000177354ENST00000323868p.?c.2075-6_2078delacacacACACUnknown
ZC3H7AENSG00000122299ENST00000355758p.E157Dc.471G>CSubstitution - Missense
KDM2BENSG00000089094ENST00000377071p.Q5Kc.13C>ASubstitution - Missense
TRPM1ENSG00000134160ENST00000397795p.C1302Rc.3904T>CSubstitution - Missense
RFC3ENSG00000133119ENST00000380071p.M347Ic.1041G>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.?c.1112-4G>TUnknown
CSMD2ENSG00000121904ENST00000241312p.L3010Fc.9028C>TSubstitution - Missense
CSMD2ENSG00000121904ENST00000373381p.L3154Fc.9460C>TSubstitution - Missense
DCLK1ENSG00000133083ENST00000255448p.S158Wc.473C>GSubstitution - Missense
FREM2ENSG00000150893ENST00000280481p.T639Kc.1916C>ASubstitution - Missense
RRP8ENSG00000132275ENST00000254605p.M347Ic.1041G>TSubstitution - Missense
SHANK2ENSG00000162105ENST00000338508p.P1368Pc.4104C>ASubstitution - coding silent
OR6K3ENSG00000203757ENST00000368146p.F49Fc.147C>TSubstitution - coding silent
VWFENSG00000110799ENST00000261405p.V446Vc.1338C>TSubstitution - coding silent
CDHR1ENSG00000148600ENST00000372117p.P85Ac.253C>GSubstitution - Missense
SU_OBSCN.1p.T4909Tc.14727G>ASubstitution - coding silent
ENST00000369212_v70p.K315Tc.944A>CSubstitution - Missense
ENST00000337072p.R316Qc.947G>ASubstitution - Missense
ZDHHC5ENSG00000156599ENST00000287169p.L244Lc.732C>TSubstitution - coding silent
VARSENSG00000204394ENST00000375663p.L19Lc.57C>ASubstitution - coding silent
HYDINENSG00000157423ENST00000393550p.E183Kc.547G>ASubstitution - Missense
TOP1ENSG00000198900ENST00000361337p.P397Ac.1189C>GSubstitution - Missense
NM_021874.2p.E509Kc.1525G>ASubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.S4285Fc.12854C>TSubstitution - Missense
TMEM246ENSG00000165152ENST00000374848p.F51Lc.153C>ASubstitution - Missense
FAM172AENSG00000113391ENST00000395965p.E285Kc.853G>ASubstitution - Missense
KYENSG00000174611ENST00000423778p.I472Ic.1416C>TSubstitution - coding silent
ENST00000344062p.L432Lc.1296C>TSubstitution - coding silent
SU_SPEGp.T2813Pc.8437A>CSubstitution - Missense
UGT1A10ENSG00000242515ENST00000344644p.I319Mc.957T>GSubstitution - Missense
UGT1A9ENSG00000241119ENST00000354728p.I319Mc.957T>GSubstitution - Missense
DMDENSG00000198947ENST00000357033p.H2748Yc.8242C>TSubstitution - Missense
CHN2ENSG00000106069ENST00000539406p.?c.369+10C>TUnknown
ENST00000539592p.?c.832-4G>TUnknown
NFATC3ENSG00000072736ENST00000329524p.C537Fc.1610G>TSubstitution - Missense
KIAA1109ENSG00000138688ENST00000264501p.M4605Ic.13815G>ASubstitution - Missense
FHOD1ENSG00000135723ENST00000258201p.P254Tc.760C>ASubstitution - Missense
FOXP2ENSG00000128573ENST00000403559p.*733*c.2198G>ASubstitution - coding silent
ZBTB34ENSG00000177125ENST00000373452p.N23Nc.69C>TSubstitution - coding silent
CERCAMENSG00000167123ENST00000372838p.?c.561+3G>AUnknown
CPAMD8ENSG00000160111ENST00000291440p.P723Pc.2169G>ASubstitution - coding silent
TECRLENSG00000205678ENST00000381210p.?c.287-6G>TUnknown
KCND2ENSG00000184408ENST00000331113p.A201Sc.601G>TSubstitution - Missense
OR6V1ENSG00000225781ENST00000418316p.F175Fc.525C>TSubstitution - coding silent
GABBR1ENSG00000204681ENST00000377034p.S439Cc.1316C>GSubstitution - Missense
RNF19AENSG00000034677ENST00000519449p.T689Tc.2067G>ASubstitution - coding silent
TRPV1ENSG00000196689ENST00000174621p.P11Qc.32C>ASubstitution - Missense
FAM69BENSG00000165716ENST00000371692p.?c.484-6C>TUnknown
CNTNAP1ENSG00000108797ENST00000264638p.R589Wc.1765C>TSubstitution - Missense
ZNF852ENSG00000178917ENST00000436261p.L27Lc.81C>GSubstitution - coding silent
KYENSG00000174611ENST00000423778p.I472Ic.1416C>TSubstitution - coding silent
USP38ENSG00000170185ENST00000307017p.E990Kc.2968G>ASubstitution - Missense
AK131216.1p.V443Vc.1329G>TSubstitution - coding silent
UGT1A3ENSG00000243135ENST00000482026p.I323Mc.969T>GSubstitution - Missense
ZNF416ENSG00000083817ENST00000196489p.E343Qc.1027G>CSubstitution - Missense
ZNF628ENSG00000197483ENST00000391718p.L606Vc.1816C>GSubstitution - Missense
BCORENSG00000183337ENST00000397354p.E946Kc.2836G>ASubstitution - Missense
HDAC6ENSG00000094631ENST00000334136p.E779Qc.2335G>CSubstitution - Missense
ATP6V1E1ENSG00000131100ENST00000253413p.E37Kc.109G>ASubstitution - Missense
ORC2ENSG00000115942ENST00000234296p.V279Fc.835G>TSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.G612Cc.1834G>TSubstitution - Missense
KPNA7ENSG00000185467ENST00000327442p.?c.901-7C>AUnknown
SULT1E1ENSG00000109193ENST00000226444p.H174Yc.520C>TSubstitution - Missense
CHAF1BENSG00000159259ENST00000314103p.L349Lc.1047C>TSubstitution - coding silent
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
ENST00000436173p.G657Cc.1969G>TSubstitution - Missense
LUZP4ENSG00000102021ENST00000371920p.M1Vc.1A>GSubstitution - Missense
KIF16BENSG00000089177ENST00000354981p.A368Sc.1102G>TSubstitution - Missense
OR2T27ENSG00000187701ENST00000344889p.Y104Yc.312C>TSubstitution - coding silent
PPFIBP1ENSG00000110841ENST00000228425p.G334Gc.1002A>GSubstitution - coding silent
DMXL2ENSG00000104093ENST00000251076p.H331Yc.991C>TSubstitution - Missense
HMCN1ENSG00000143341ENST00000271588p.A602Dc.1805C>ASubstitution - Missense
IRF2BP2ENSG00000168264ENST00000366609p.L199Lc.597G>ASubstitution - coding silent
ENST00000256007p.R766Sc.2298A>TSubstitution - Missense
PLCE1ENSG00000138193ENST00000260766p.S1318Yc.3953C>ASubstitution - Missense
PARP1ENSG00000143799ENST00000366794p.H909Nc.2725C>ASubstitution - Missense
LMO7ENSG00000136153ENST00000465261p.E1036Dc.3108G>CSubstitution - Missense
LMO7ENSG00000136153ENST00000357063p.E1357Kc.4069G>ASubstitution - Missense
PTDSS1ENSG00000156471ENST00000517309p.V236Ic.706G>ASubstitution - Missense
KIF23ENSG00000137807ENST00000260363p.E514Kc.1540G>ASubstitution - Missense
KDM2BENSG00000089094ENST00000377071p.S820Lc.2459C>TSubstitution - Missense
ENST00000425120p.Q86Rc.257A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.V2254Ic.6760G>ASubstitution - Missense
TTC23ENSG00000103852ENST00000394130p.E49Kc.145G>ASubstitution - Missense
MMEL1ENSG00000142606ENST00000378412p.Q600Rc.1799A>GSubstitution - Missense
MAP3K8ENSG00000107968ENST00000375322p.N22Hc.64A>CSubstitution - Missense
PAPPAENSG00000182752ENST00000328252p.C1567Sc.4700G>CSubstitution - Missense
CCDC173ENSG00000154479ENST00000447353p.A107Tc.319G>ASubstitution - Missense
GRM4ENSG00000124493ENST00000374181p.I212Ic.636C>TSubstitution - coding silent
GRM4ENSG00000124493ENST00000374181p.I212Ic.636C>TSubstitution - coding silent
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
GPR22ENSG00000172209ENST00000304402p.L378Lc.1134G>ASubstitution - coding silent
UTP6ENSG00000108651ENST00000261708p.?c.703+9C>TUnknown
PLD1ENSG00000075651ENST00000351298p.E640Kc.1918G>ASubstitution - Missense
SLC22A4ENSG00000197208ENST00000200652p.T549Tc.1647T>CSubstitution - coding silent
ENST00000361316p.Q1417Kc.4249C>ASubstitution - Missense
FREM1ENSG00000164946ENST00000422223p.K228Nc.684G>TSubstitution - Missense
PNMAL1ENSG00000182013ENST00000313683p.R169Sc.505C>ASubstitution - Missense
KCTD7ENSG00000243335ENST00000275532p.?c.494-1G>CUnknown
RABGEF1ENSG00000154710ENST00000510829p.L374Fc.1122G>CSubstitution - Missense
IQSEC1ENSG00000144711ENST00000273221p.L377Vc.1129C>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.V2224Ic.6670G>ASubstitution - Missense
ZCCHC14ENSG00000140948ENST00000561928p.S752Sc.2256C>TSubstitution - coding silent
HAVCR1ENSG00000113249ENST00000425854p.T174Kc.521C>ASubstitution - Missense
NFIXENSG00000008441ENST00000585575p.R221Tc.662G>CSubstitution - Missense
DEDDENSG00000158796ENST00000392188p.E282Qc.844G>CSubstitution - Missense
ENST00000370589_v70p.D173Nc.517G>ASubstitution - Missense
ZC3H13ENSG00000123200ENST00000242848p.?c.448+9C>TUnknown
RABGAP1ENSG00000011454ENST00000373647p.L889Lc.2667G>ASubstitution - coding silent
OCIAD2ENSG00000145247ENST00000508632p.S20Rc.60C>ASubstitution - Missense
SNX13ENSG00000071189ENST00000428135p.G526Ec.1577G>ASubstitution - Missense
CYP2S1ENSG00000167600ENST00000310054p.V478Ic.1432G>ASubstitution - Missense
NEUROD6ENSG00000164600ENST00000297142p.H108Hc.324C>TSubstitution - coding silent
ENST00000319589p.V91Ic.271G>ASubstitution - Missense
PCDHA3ENSG00000255408ENST00000522353p.L666Lc.1996C>TSubstitution - coding silent
PCDHGA3ENSG00000254245ENST00000253812p.E122Qc.364G>CSubstitution - Missense
DSTENSG00000151914ENST00000244364p.V4277Fc.12829G>TSubstitution - Missense
FARS2ENSG00000145982ENST00000324331p.D328Nc.982G>ASubstitution - Missense
PHF8ENSG00000172943ENST00000357988p.G368Gc.1104G>TSubstitution - coding silent
PHF8ENSG00000172943ENST00000322659p.G332Gc.996G>TSubstitution - coding silent
ITGALENSG00000005844ENST00000356798p.Q719Ec.2155C>GSubstitution - Missense
EPHB4ENSG00000196411ENST00000358173p.P599Rc.1796C>GSubstitution - Missense
ENSG00000145965ENST00000356722p.I42Kc.125T>ASubstitution - Missense
PRICKLE4ENSG00000124593ENST00000394263p.F214Lc.642C>GSubstitution - Missense
KALRNENSG00000160145ENST00000360013p.F147Fc.441C>TSubstitution - coding silent
ARSFENSG00000062096ENST00000381127p.E252Kc.754G>ASubstitution - Missense
DMDENSG00000198947ENST00000378677p.H2744Yc.8230C>TSubstitution - Missense
PLCH1ENSG00000114805ENST00000447496p.Q635*c.1903C>TSubstitution - Nonsense
SYNE1ENSG00000131018ENST00000265368p.V2217Ic.6649G>ASubstitution - Missense
FGD5ENSG00000154783ENST00000285046p.?c.2526-7G>CUnknown
WBP1ENSG00000239779ENST00000233615p.R25Qc.74G>ASubstitution - Missense
NLRP8ENSG00000179709ENST00000291971p.L983Lc.2949G>CSubstitution - coding silent
FAM175AENSG00000163322ENST00000321945p.V319Vc.957A>GSubstitution - coding silent
STK25ENSG00000115694ENST00000316586p.?c.1105-5C>AUnknown
STRIP2ENSG00000128578ENST00000249344p.E216Qc.646G>CSubstitution - Missense
ZNF133ENSG00000125846ENST00000377671p.E322*c.964G>TSubstitution - Nonsense
ENST00000246101p.S12*c.35C>ASubstitution - Nonsense
RIN3ENSG00000100599ENST00000216487p.E222*c.664G>TSubstitution - Nonsense
GPHNENSG00000171723ENST00000478722p.N589Sc.1766A>GSubstitution - Missense
NOX4ENSG00000086991ENST00000263317p.S60Lc.179C>TSubstitution - Missense
ENST00000316851_v65p.E801Qc.2401G>CSubstitution - Missense
CCP110ENSG00000103540ENST00000396212p.V286Vc.858C>TSubstitution - coding silent
IGF2ENSG00000167244ENST00000434045p.D27Nc.79G>ASubstitution - Missense
TPCN1ENSG00000186815ENST00000550785p.D79Ac.236A>CSubstitution - Missense
MTHFRENSG00000177000ENST00000376592p.G121Cc.361G>TSubstitution - Missense
SSSCA1ENSG00000173465ENST00000309328p.L76Lc.228C>TSubstitution - coding silent
SPENENSG00000065526ENST00000375759p.E656Gc.1967A>GSubstitution - Missense
FREM2ENSG00000150893ENST00000280481p.F1583Fc.4749C>TSubstitution - coding silent
CNNM2ENSG00000148842ENST00000369875p.F377Fc.1131C>TSubstitution - coding silent
ANO6ENSG00000177119ENST00000320560p.K784Rc.2351A>GSubstitution - Missense
FGF14ENSG00000102466ENST00000376143p.R186Kc.557G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.A8266Ec.24797C>ASubstitution - Missense
ARHGEF11ENSG00000132694ENST00000368194p.?c.2341+3G>CUnknown
OBSCNENSG00000154358ENST00000570156p.D1324Nc.3970G>ASubstitution - Missense
ENST00000360733p.H41Nc.121C>ASubstitution - Missense
TMEM218ENSG00000150433ENST00000279968p.F38Fc.114C>TSubstitution - coding silent
ENST00000251268_v61p.E715Kc.2143G>ASubstitution - Missense
COQ10AENSG00000135469ENST00000308197p.?c.134+5G>AUnknown
LMO7ENSG00000136153ENST00000357063p.E1359Kc.4075G>ASubstitution - Missense
HYOU1ENSG00000149428ENST00000404233p.E671Kc.2011G>ASubstitution - Missense
SPTAN1ENSG00000197694ENST00000372739p.E2116*c.6346G>TSubstitution - Nonsense
PRICKLE4ENSG00000124593ENST00000359201p.F214Lc.642C>GSubstitution - Missense
LCLAT1ENSG00000172954ENST00000319406p.?c.479-8G>AUnknown
HSP90AA1ENSG00000080824ENST00000441629p.E86Kc.256G>ASubstitution - Missense
EP400ENSG00000183495ENST00000333577p.C1775Fc.5324G>TSubstitution - Missense
ENST00000538912p.Q8Kc.22C>ASubstitution - Missense
USP20ENSG00000136878ENST00000372429p.?c.1694+7G>AUnknown
MPDZENSG00000107186ENST00000541718p.Q1702Hc.5106G>CSubstitution - Missense
SLC25A27ENSG00000153291ENST00000371347p.Q156Rc.467A>GSubstitution - Missense
GRM4ENSG00000124493ENST00000374177p.I143Ic.429C>TSubstitution - coding silent
AKAP8LENSG00000011243ENST00000397410p.E43Kc.127G>ASubstitution - Missense
TNXBENSG00000168477ENST00000375247p.S3109Fc.9326C>TSubstitution - Missense
ANO8ENSG00000074855ENST00000159087p.L394Hc.1181T>ASubstitution - Missense
ZNF70ENSG00000187792ENST00000341976p.P167Lc.500C>TSubstitution - Missense
AIFM3ENSG00000183773ENST00000399167p.H59Yc.175C>TSubstitution - Missense
PKD1L1ENSG00000158683ENST00000289672p.V1429Vc.4287C>ASubstitution - coding silent
RGS22ENSG00000132554ENST00000360863p.E818Kc.2452G>ASubstitution - Missense
RGS22ENSG00000132554ENST00000360863p.E818Kc.2452G>ASubstitution - Missense
ENST00000502505_v70p.V91Ic.271G>ASubstitution - Missense
GABRR1ENSG00000146276ENST00000454853p.A333Vc.998C>TSubstitution - Missense
LHX3ENSG00000107187ENST00000371746p.K218Nc.654G>CSubstitution - Missense
SLC26A2ENSG00000155850ENST00000286298p.L132Lc.396G>TSubstitution - coding silent
CACNA1GENSG00000006283ENST00000359106p.?c.4759+8G>AUnknown
UNC13AENSG00000130477ENST00000428389p.E1658Kc.4972G>ASubstitution - Missense
RNF150ENSG00000170153ENST00000515673p.R243Rc.729G>ASubstitution - coding silent
MAML3ENSG00000196782ENST00000509479p.K245Kc.735G>ASubstitution - coding silent
NUDT1ENSG00000106268ENST00000343985p.G59Vc.176G>TSubstitution - Missense
ABCB5ENSG00000004846ENST00000404938p.?c.1537-1G>AUnknown
NFATC3ENSG00000072736ENST00000346183p.C537Fc.1610G>TSubstitution - Missense
LEKR1ENSG00000197980ENST00000356539p.E58Kc.172G>ASubstitution - Missense
ADD2ENSG00000075340ENST00000430656p.A234Ac.702G>CSubstitution - coding silent
PRR14LENSG00000183530ENST00000397493p.P1164Rc.3491C>GSubstitution - Missense
PLECENSG00000178209ENST00000345136p.I4109Mc.12327C>GSubstitution - Missense
HIST1H2AEENSG00000168274ENST00000303910p.L56Lc.168G>TSubstitution - coding silent
DGAT1ENSG00000185000ENST00000332324p.V192Vc.576G>TSubstitution - coding silent
PHF10ENSG00000130024ENST00000339209p.M415Ic.1245G>ASubstitution - Missense
CCR7ENSG00000126353ENST00000246657p.E371Kc.1111G>ASubstitution - Missense
PDS5AENSG00000121892ENST00000503396p.D226Hc.676G>CSubstitution - Missense
ANKRD36ENSG00000135976ENST00000461153p.?c.1633+3A>TUnknown
POU1F1ENSG00000064835ENST00000344265p.?c.682+9T>CUnknown
NDUFV3ENSG00000160194ENST00000354250p.L454Lc.1362C>TSubstitution - coding silent
KIDINS220ENSG00000134313ENST00000256707p.R286Qc.857G>ASubstitution - Missense
TNPO3ENSG00000064419ENST00000393245p.?c.2813+7G>CUnknown
KIR2DL3ENSG00000243772ENST00000342376p.S132*c.395C>GSubstitution - Nonsense
WBP5ENSG00000185222ENST00000372661p.L53Vc.157C>GSubstitution - Missense
MCOLN3ENSG00000055732ENST00000370589p.D173Nc.517G>ASubstitution - Missense
SYDE2ENSG00000097096ENST00000341460p.E1005Qc.3013G>CSubstitution - Missense
EXOC5ENSG00000070367ENST00000413566p.L242Lc.726G>ASubstitution - coding silent
SPTBENSG00000070182ENST00000389722p.?c.475-3C>GUnknown
RHPN2ENSG00000131941ENST00000400226p.I280Mc.840T>GSubstitution - Missense
NCAM1ENSG00000149294ENST00000316851p.E801Qc.2401G>CSubstitution - Missense
RPS2ENSG00000140988ENST00000343262p.R51Gc.151C>GSubstitution - Missense
IDH2ENSG00000182054ENST00000330062p.F192Lc.576C>GSubstitution - Missense
PRAMEF1ENSG00000116721ENST00000332296p.A27Ac.81C>TSubstitution - coding silent
ZNF106ENSG00000103994ENST00000263805p.R858Qc.2573G>ASubstitution - Missense
PCNXL3ENSG00000197136ENST00000355703p.?c.5594-4A>GUnknown
SH3D21ENSG00000214193ENST00000453908p.L704Lc.2112G>TSubstitution - coding silent
SH3D21ENSG00000214193ENST00000312808p.L350Lc.1050G>TSubstitution - coding silent
NUPL1ENSG00000139496ENST00000381736p.G485Gc.1455A>TSubstitution - coding silent
NALCNENSG00000102452ENST00000251127p.S1228Fc.3683C>TSubstitution - Missense
ENST00000319957p.F389Lc.1167C>ASubstitution - Missense
OR10G6ENSG00000198674ENST00000307002p.L57Lc.171C>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000359599p.D1324Nc.3970G>ASubstitution - Missense
CDHR1ENSG00000148600ENST00000332904p.P85Ac.253C>GSubstitution - Missense
MYL6ENSG00000092841ENST00000547649p.E133Qc.397G>CSubstitution - Missense
LMO7ENSG00000136153ENST00000465261p.E1074Kc.3220G>ASubstitution - Missense
GPR115ENSG00000153294ENST00000371220p.K139fs*29c.410delADeletion - Frameshift
SPASTENSG00000021574ENST00000315285p.F61Lc.183C>GSubstitution - Missense
PLEKHA4ENSG00000105559ENST00000263265p.R32Wc.94C>TSubstitution - Missense
BAZ1AENSG00000198604ENST00000382422p.R1179*c.3535C>TSubstitution - Nonsense
C2orf16ENSG00000221843ENST00000408964p.S668Fc.2003C>TSubstitution - Missense
SLC25A23ENSG00000125648ENST00000334510p.E235Kc.703G>ASubstitution - Missense
SH3BP2ENSG00000087266ENST00000503393p.M334Ic.1002G>ASubstitution - Missense
OTOAENSG00000155719ENST00000286149p.?c.2344-6A>GUnknown
LILRA2ENSG00000239998ENST00000251377p.L208Vc.622C>GSubstitution - Missense
LILRA2ENSG00000239998ENST00000251377p.H366Qc.1098T>GSubstitution - Missense
ACTN2ENSG00000077522ENST00000542672p.R492*c.1474C>TSubstitution - Nonsense
TRIM6ENSG00000121236ENST00000380097p.R316Qc.947G>ASubstitution - Missense
TNXBENSG00000168477ENST00000375244p.S3033Fc.9098C>TSubstitution - Missense
SEMG2ENSG00000124157ENST00000372769p.A531Ec.1592C>ASubstitution - Missense
LRRN3ENSG00000173114ENST00000308478p.I201Mc.603C>GSubstitution - Missense
DBF4BENSG00000161692ENST00000315005p.L11Lc.33C>GSubstitution - coding silent
SOGA3ENSG00000214338ENST00000368268p.E611Qc.1831G>CSubstitution - Missense
RABL3ENSG00000144840ENST00000273375p.*237*c.710G>ASubstitution - coding silent
AP3D1ENSG00000065000ENST00000345016p.A593Ec.1778C>ASubstitution - Missense
MEIS3ENSG00000105419ENST00000561293p.D188Nc.562G>ASubstitution - Missense
SLC4A3ENSG00000114923ENST00000273063p.V307Vc.921G>TSubstitution - coding silent
DMDENSG00000198947ENST00000378677p.E1983Kc.5947G>ASubstitution - Missense
PLCH1ENSG00000114805ENST00000334686p.Q617*c.1849C>TSubstitution - Nonsense
GPR114ENSG00000159618ENST00000340339p.R40Rc.120G>CSubstitution - coding silent
PDLIM5ENSG00000163110ENST00000380180p.E113Kc.337G>ASubstitution - Missense
CDH3ENSG00000062038ENST00000264012p.E436Dc.1308G>CSubstitution - Missense
BCORENSG00000183337ENST00000378444p.E946Kc.2836G>ASubstitution - Missense
RFPL3ENSG00000128276ENST00000249007p.L139Lc.417C>ASubstitution - coding silent
NM_020654.2p.S320Cc.959C>GSubstitution - Missense
KIR2DS4ENSG00000221957ENST00000391729p.S170Lc.509C>TSubstitution - Missense
NM_003319p.E16371Kc.49111G>ASubstitution - Missense
STAU2ENSG00000040341ENST00000524300p.F248Fc.744C>TSubstitution - coding silent
CPSF1ENSG00000071894ENST00000349769p.G886Gc.2658C>TSubstitution - coding silent
KRT10ENSG00000186395ENST00000269576p.E239Kc.715G>ASubstitution - Missense
APPENSG00000142192ENST00000346798p.L509Lc.1527A>GSubstitution - coding silent
LPCAT2ENSG00000087253ENST00000262134p.M329Ic.987G>ASubstitution - Missense
SMCHD1ENSG00000101596ENST00000320876p.F1611Fc.4833C>TSubstitution - coding silent
DTNAENSG00000134769ENST00000315456p.S33Sc.99C>ASubstitution - coding silent
PTPRGENSG00000144724ENST00000474889p.S708Fc.2123C>TSubstitution - Missense
SIGLEC10ENSG00000142512ENST00000439889p.?c.850+3G>CUnknown
USP36ENSG00000055483ENST00000312010p.G609Gc.1827C>TSubstitution - coding silent
SLC9A8ENSG00000197818ENST00000361573p.E579Kc.1735G>ASubstitution - Missense
CPT1CENSG00000169169ENST00000323446p.M691Vc.2071A>GSubstitution - Missense
PAK3ENSG00000077264ENST00000360648p.K149Kc.447G>ASubstitution - coding silent
CRYGAENSG00000168582ENST00000304502p.E128Qc.382G>CSubstitution - Missense
ASPHENSG00000198363ENST00000379454p.R445Kc.1334G>ASubstitution - Missense
USP3ENSG00000140455ENST00000380324p.A501Ac.1503G>ASubstitution - coding silent
C1orf195ENSG00000204464ENST00000376005p.L101Lc.303C>TSubstitution - coding silent
DYX1C1ENSG00000256061ENST00000380679p.E170Kc.508G>ASubstitution - Missense
ULK1ENSG00000177169ENST00000321867p.I887Ic.2661C>TSubstitution - coding silent
PAPPA2ENSG00000116183ENST00000367662p.V1134Vc.3402G>ASubstitution - coding silent
EP400ENSG00000183495ENST00000389561p.V72Mc.214G>ASubstitution - Missense
SIDT2ENSG00000149577ENST00000324225p.C335Sc.1004G>CSubstitution - Missense
SYNMENSG00000182253ENST00000336292p.S464Fc.1391C>TSubstitution - Missense
C1orf54ENSG00000118292ENST00000369102p.V93Vc.279G>TSubstitution - coding silent
RXFP2ENSG00000133105ENST00000298386p.L358Lc.1072C>TSubstitution - coding silent
CSMD2ENSG00000121904ENST00000241312p.?c.992-4G>TUnknown
F5ENSG00000198734ENST00000367797p.R1005Kc.3014G>ASubstitution - Missense
NUP133ENSG00000069248ENST00000261396p.E940Kc.2818G>ASubstitution - Missense
LYSTENSG00000143669ENST00000389793p.?c.3940-3C>TUnknown
ESPL1ENSG00000135476ENST00000257934p.?c.6162-10C>GUnknown
LMO7ENSG00000136153ENST00000341547p.E987Dc.2961G>CSubstitution - Missense
GPR115ENSG00000153294ENST00000327753p.K82fs*29c.239delADeletion - Frameshift
CAPN15ENSG00000103326ENST00000219611p.A875Ac.2625G>ASubstitution - coding silent
DLSTENSG00000119689ENST00000334220p.V376Ic.1126G>ASubstitution - Missense
MTHFRENSG00000177000ENST00000376583p.D251Nc.751G>ASubstitution - Missense
C1orf54ENSG00000118292ENST00000369098p.V93Vc.279G>TSubstitution - coding silent
MYH11ENSG00000133392ENST00000396324p.D1080Nc.3238G>ASubstitution - Missense
MUC6ENSG00000184956ENST00000421673p.Q2096Qc.6288G>ASubstitution - coding silent
ALKBH8ENSG00000137760ENST00000428149p.R276Lc.827G>TSubstitution - Missense
MKL2ENSG00000186260ENST00000318282p.E836Kc.2506G>ASubstitution - Missense
NBPF20ENSG00000203832ENST00000369202p.E180Qc.538G>CSubstitution - Missense
LCMT2ENSG00000168806ENST00000305641p.R82Cc.244C>TSubstitution - Missense
ANO6ENSG00000177119ENST00000425752p.K784Rc.2351A>GSubstitution - Missense
LRRC16BENSG00000186648ENST00000342740p.P918Lc.2753C>TSubstitution - Missense
RASSF4ENSG00000107551ENST00000340258p.Q148Hc.444G>CSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.T5039Tc.15117G>ASubstitution - coding silent
ERBB3ENSG00000065361ENST00000267101p.E1219Kc.3655G>ASubstitution - Missense
POU3F4ENSG00000196767ENST00000373200p.L53Lc.159C>TSubstitution - coding silent
EEF1DENSG00000104529ENST00000423316p.Q637Qc.1911G>ASubstitution - coding silent
NRASENSG00000213281ENST00000369535p.Q61Kc.181C>ASubstitution - Missense
MCTP1ENSG00000175471ENST00000312216p.D639Dc.1917C>TSubstitution - coding silent
OR1L6ENSG00000171459ENST00000373684p.S130Sc.390C>TSubstitution - coding silent
NM_012197.2p.L817Lc.2451G>ASubstitution - coding silent
NEIL3ENSG00000109674ENST00000264596p.I218Nc.653T>ASubstitution - Missense
MAGEC3ENSG00000165509ENST00000544766p.E267*c.799G>TSubstitution - Nonsense
GALNT3ENSG00000115339ENST00000392701p.R39Sc.117A>TSubstitution - Missense
ABCB8ENSG00000197150ENST00000358849p.?c.2016+8G>TUnknown
KRBA1ENSG00000133619ENST00000255992p.L441Lc.1321C>TSubstitution - coding silent
ZNF292ENSG00000188994ENST00000369577p.S498Fc.1493C>TSubstitution - Missense
PCDHGB4ENSG00000253953ENST00000519479p.L670Pc.2009T>CSubstitution - Missense
DPYSL3ENSG00000113657ENST00000398514p.K293Kc.879G>ASubstitution - coding silent
BRCA1ENSG00000012048ENST00000357654p.T637Tc.1911T>CSubstitution - coding silent
COL19A1ENSG00000082293ENST00000322773p.G571Rc.1711G>ASubstitution - Missense
COL6A6ENSG00000206384ENST00000358511p.L876Lc.2628C>ASubstitution - coding silent
DMDENSG00000198947ENST00000378677p.H2744Yc.8230C>TSubstitution - Missense
DMDENSG00000198947ENST00000378707p.H288Yc.862C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.V2224Ic.6670G>ASubstitution - Missense
C3orf20ENSG00000131379ENST00000253697p.L873Vc.2617C>GSubstitution - Missense
EDC4ENSG00000038358ENST00000358933p.G463Sc.1387G>ASubstitution - Missense
DYSFENSG00000135636ENST00000410020p.?c.1807-10C>TUnknown
ADD2ENSG00000075340ENST00000264436p.A218Ac.654G>CSubstitution - coding silent
ADD2ENSG00000075340ENST00000355733p.A218Ac.654G>CSubstitution - coding silent
ZNF860ENSG00000197385ENST00000360311p.R334Tc.1001G>CSubstitution - Missense
ZNF628ENSG00000197483ENST00000391718p.C536Cc.1608C>TSubstitution - coding silent
ZNF497ENSG00000174586ENST00000311044p.P193Lc.578C>TSubstitution - Missense
ABCG2ENSG00000118777ENST00000237612p.Q244*c.730C>TSubstitution - Nonsense
ZNF513ENSG00000163795ENST00000323703p.L276Lc.828C>GSubstitution - coding silent
ZNF836ENSG00000196267ENST00000322146p.G634Ec.1901G>ASubstitution - Missense
ENST00000329373p.G72Gc.216G>ASubstitution - coding silent
HTTENSG00000197386ENST00000355072p.L1178Vc.3532C>GSubstitution - Missense
PLXNA4ENSG00000221866ENST00000378539p.E301Kc.901G>ASubstitution - Missense
CADPS2ENSG00000081803ENST00000449022p.A1098Sc.3292G>TSubstitution - Missense
CBFA2T2ENSG00000078699ENST00000375279p.G112Dc.335G>ASubstitution - Missense
SNX5ENSG00000089006ENST00000377768p.E320Ec.960G>ASubstitution - coding silent
NM_014363.3p.A3635Ac.10905A>GSubstitution - coding silent
ING1ENSG00000153487ENST00000333219p.E230Kc.688G>ASubstitution - Missense
RTN1ENSG00000139970ENST00000267484p.D99Nc.295G>ASubstitution - Missense
XM_031689.7p.M1183Vc.3547A>GSubstitution - Missense
PPFIBP1ENSG00000110841ENST00000318304p.V755Vc.2265T>GSubstitution - coding silent
DLATENSG00000150768ENST00000280346p.R354Rc.1062G>ASubstitution - coding silent
ABCC6ENSG00000091262ENST00000205557p.I456Mc.1368C>GSubstitution - Missense
PRAMEF1ENSG00000116721ENST00000332296p.M28Vc.82A>GSubstitution - Missense
PRAMEF1ENSG00000116721ENST00000332296p.M28Vc.82A>GSubstitution - Missense
NBEAENSG00000172915ENST00000310336p.G2902Ec.8705G>ASubstitution - Missense
SCAF11ENSG00000139218ENST00000369367p.S430Sc.1290T>CSubstitution - coding silent
FOLR3ENSG00000110203ENST00000456237p.?c.1_7delATGGACAUnknown
KRT86ENSG00000170442ENST00000293525p.A293Dc.878C>ASubstitution - Missense
SHMT2ENSG00000182199ENST00000328923p.V111Vc.333G>CSubstitution - coding silent
SEMA7AENSG00000138623ENST00000261918p.E638Kc.1912G>ASubstitution - Missense
HS6ST3ENSG00000185352ENST00000376705p.G273Vc.818G>TSubstitution - Missense
DCTN4ENSG00000132912ENST00000447998p.E241Qc.721G>CSubstitution - Missense
GPR75ENSG00000119737ENST00000394705p.S484Rc.1452C>ASubstitution - Missense
OR2K2ENSG00000171133ENST00000374428p.S106Fc.317C>TSubstitution - Missense
RAB3GAP1ENSG00000115839ENST00000264158p.L790Lc.2370C>ASubstitution - coding silent
KALRNENSG00000160145ENST00000240874p.F147Fc.441C>TSubstitution - coding silent
MAGEB2ENSG00000099399ENST00000378988p.D313Nc.937G>ASubstitution - Missense
KIAA1109ENSG00000138688ENST00000264501p.H618Yc.1852C>TSubstitution - Missense
ZFP62ENSG00000196670ENST00000512132p.G282Gc.846G>ASubstitution - coding silent
WDFY3ENSG00000163625ENST00000295888p.L1772Lc.5316C>GSubstitution - coding silent
GMEB2ENSG00000101216ENST00000370077p.L246Lc.736C>TSubstitution - coding silent
CASP8ENSG00000064012ENST00000358485p.H314Yc.940C>TSubstitution - Missense
ATAD2BENSG00000119778ENST00000238789p.T1058Tc.3174T>CSubstitution - coding silent
CST1ENSG00000170373ENST00000398402p.E108Kc.322G>ASubstitution - Missense
ATP8A1ENSG00000124406ENST00000381668p.L640Rc.1919T>GSubstitution - Missense
GSDMBENSG00000073605ENST00000418519p.F46Lc.138C>ASubstitution - Missense
MYOM2ENSG00000036448ENST00000262113p.L483Lc.1449C>TSubstitution - coding silent
SLC9A8ENSG00000197818ENST00000417961p.E595Kc.1783G>ASubstitution - Missense
S1PR4ENSG00000125910ENST00000246115p.R109Hc.326G>ASubstitution - Missense
GP1BAENSG00000185245ENST00000329125p.E351Qc.1051G>CSubstitution - Missense
DNAJC11ENSG00000007923ENST00000426784p.R109Qc.326G>ASubstitution - Missense
ADARENSG00000160710ENST00000368474p.E388Qc.1162G>CSubstitution - Missense
ME3ENSG00000151376ENST00000393324p.R462Qc.1385G>ASubstitution - Missense
NSUN6ENSG00000241058ENST00000377304p.G235Ac.704G>CSubstitution - Missense
XM_372608.1p.G218Rc.652G>ASubstitution - Missense
PPCSENSG00000127125ENST00000372561p.K208Kc.624G>ASubstitution - coding silent
ADAM12ENSG00000148848ENST00000368676p.L89Fc.265C>TSubstitution - Missense
ADAM12ENSG00000148848ENST00000368679p.L89Fc.265C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.D5169Nc.15505G>ASubstitution - Missense
MAT1AENSG00000151224ENST00000372213p.Q36Hc.108G>CSubstitution - Missense
ABTB2ENSG00000166016ENST00000435224p.I888Ic.2664C>TSubstitution - coding silent
SLC12A4ENSG00000124067ENST00000537830p.?c.1279+10G>AUnknown
KIR2DL3ENSG00000243772ENST00000434419p.S132*c.395C>GSubstitution - Nonsense
DLC1ENSG00000164741ENST00000511869p.E313Kc.937G>ASubstitution - Missense
CCDC173ENSG00000154479ENST00000447353p.A107Tc.319G>ASubstitution - Missense
ODF2ENSG00000136811ENST00000372814p.L293Lc.879G>ASubstitution - coding silent
CCDC152ENSG00000198865ENST00000361970p.Y201fs*32c.600_601insTInsertion - Frameshift
ENST00000342925p.T241Mc.722C>TSubstitution - Missense
HYDINENSG00000157423ENST00000393550p.L584Lc.1752G>CSubstitution - coding silent
KCNN4ENSG00000104783ENST00000262888p.R287Rc.861G>TSubstitution - coding silent
CHD6ENSG00000124177ENST00000373222p.T125Ac.373A>GSubstitution - Missense
IDNKENSG00000148057ENST00000277124p.E107Qc.319G>CSubstitution - Missense
ZNF474ENSG00000164185ENST00000296600p.T45Tc.135A>TSubstitution - coding silent
ENST00000436261_v68p.L27Lc.81C>GSubstitution - coding silent
TROENSG00000067445ENST00000319167p.E641Qc.1921G>CSubstitution - Missense
TBC1D9ENSG00000109436ENST00000442267p.E422Kc.1264G>ASubstitution - Missense
UROC1ENSG00000159650ENST00000383579p.P54Pc.162G>ASubstitution - coding silent
DAAM2ENSG00000146122ENST00000538976p.L184Lc.552G>ASubstitution - coding silent
MAP3K2ENSG00000169967ENST00000409947p.Q576*c.1726C>TSubstitution - Nonsense
NM_001453.1p.E134Kc.400G>ASubstitution - Missense
MGAT1ENSG00000131446ENST00000333055p.W283Lc.848G>TSubstitution - Missense
SLC16A5ENSG00000170190ENST00000450736p.F308Fc.924C>TSubstitution - coding silent
ENST00000370468p.?c.319+5G>AUnknown
ZPLD1ENSG00000170044ENST00000306176p.?c.631-6C>TUnknown
DNAH7ENSG00000118997ENST00000312428p.L556Sc.1667T>CSubstitution - Missense
CTAGE1ENSG00000212710ENST00000391403p.V206Vc.618G>ASubstitution - coding silent
URB1ENSG00000142207ENST00000382751p.H2192Hc.6576C>TSubstitution - coding silent
ENST00000273600p.A2421Ac.7263A>GSubstitution - coding silent
GLIS3ENSG00000107249ENST00000381971p.E594Kc.1780G>ASubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.G84Sc.250G>ASubstitution - Missense
USP36ENSG00000055483ENST00000312010p.G609Gc.1827C>TSubstitution - coding silent
SALL4ENSG00000101115ENST00000217086p.S349Sc.1047C>ASubstitution - coding silent
PELP1ENSG00000141456ENST00000301396p.E1095Kc.3283G>ASubstitution - Missense
SLC24A3ENSG00000185052ENST00000328041p.G506Gc.1518G>ASubstitution - coding silent
CD163L1ENSG00000177675ENST00000313599p.S661Lc.1982C>TSubstitution - Missense
TESPA1ENSG00000135426ENST00000449076p.P359Sc.1075C>TSubstitution - Missense
PYCR2ENSG00000143811ENST00000343818p.S26Lc.77C>TSubstitution - Missense
MAP3K2ENSG00000169967ENST00000409947p.S9Lc.26C>TSubstitution - Missense
MYH8ENSG00000133020ENST00000403437p.E211Kc.631G>ASubstitution - Missense
INPP5KENSG00000132376ENST00000320345p.G231Sc.691G>ASubstitution - Missense
ANKFY1ENSG00000185722ENST00000433651p.L262Lc.784C>TSubstitution - coding silent
DLL3ENSG00000090932ENST00000356433p.S335Fc.1004C>TSubstitution - Missense
MACF1ENSG00000127603ENST00000317713p.A1222Sc.3664G>TSubstitution - Missense
TTC21BENSG00000123607ENST00000243344p.A91Dc.272C>ASubstitution - Missense
PAPPAENSG00000182752ENST00000328252p.D487Nc.1459G>ASubstitution - Missense
LAMB4ENSG00000091128ENST00000205386p.K426Nc.1278A>TSubstitution - Missense
LRRN3ENSG00000173114ENST00000308478p.L224Lc.672C>TSubstitution - coding silent
ANKHD1ENSG00000131503ENST00000297183p.E2029Qc.6085G>CSubstitution - Missense
ENPP3ENSG00000154269ENST00000357639p.?c.1252+7A>GUnknown
ERLEC1ENSG00000068912ENST00000185150p.?c.1227-3C>TUnknown
DSTENSG00000151914ENST00000370769p.V6691Fc.20071G>TSubstitution - Missense
TIMM21ENSG00000075336ENST00000169551p.M1Ic.3G>ASubstitution - Missense
RNF150ENSG00000170153ENST00000420921p.R102Rc.306G>ASubstitution - coding silent
KATNA1ENSG00000186625ENST00000335647p.D311Hc.931G>CSubstitution - Missense
PLCH1ENSG00000114805ENST00000340059p.Q635*c.1903C>TSubstitution - Nonsense
CD300LFENSG00000186074ENST00000326165p.?c.559+5G>CUnknown
RGPD3ENSG00000153165ENST00000409886p.V733Vc.2199C>GSubstitution - coding silent
NEK10ENSG00000163491ENST00000429845p.R998Qc.2993G>ASubstitution - Missense
ZNF616ENSG00000204611ENST00000330123p.F250Fc.750C>TSubstitution - coding silent
MYH15ENSG00000144821ENST00000273353p.E1220Kc.3658G>ASubstitution - Missense
DYNC1I2ENSG00000077380ENST00000397119p.H462Rc.1385A>GSubstitution - Missense
TRAM1ENSG00000067167ENST00000262213p.Q247Qc.741G>ASubstitution - coding silent
NM_018288.2p.M327Ic.981G>ASubstitution - Missense
GUF1ENSG00000151806ENST00000281543p.S577Lc.1730C>TSubstitution - Missense
NFIXENSG00000008441ENST00000360105p.R229Tc.686G>CSubstitution - Missense
NLKENSG00000087095ENST00000407008p.H424Hc.1272C>TSubstitution - coding silent
LILRA2ENSG00000239998ENST00000251376p.H366Qc.1098T>GSubstitution - Missense
GPCPD1ENSG00000125772ENST00000379019p.?c.350-7C>GUnknown
ENST00000237536_v68p.E951Kc.2851G>ASubstitution - Missense
SPO11ENSG00000054796ENST00000371263p.R166Sc.498G>CSubstitution - Missense
LRRC48ENSG00000171962ENST00000582416p.G67Cc.199G>TSubstitution - Missense
ARID1AENSG00000117713ENST00000324856p.E1075*c.3223G>TSubstitution - Nonsense
DAPK2ENSG00000035664ENST00000261891p.?c.659+8T>AUnknown
ATAD3CENSG00000215915ENST00000378785p.Y176Yc.528C>TSubstitution - coding silent
ANGPTL1ENSG00000116194ENST00000367629p.K121Kc.363G>ASubstitution - coding silent
MKL2ENSG00000186260ENST00000341243p.E875Kc.2623G>ASubstitution - Missense
P2RX7ENSG00000089041ENST00000546057p.H268Dc.802C>GSubstitution - Missense
KDM2BENSG00000089094ENST00000377069p.?c.955-3C>TUnknown
TUBGCP4ENSG00000137822ENST00000564079p.F89Fc.267C>TSubstitution - coding silent
NODALENSG00000156574ENST00000287139p.E287Qc.859G>CSubstitution - Missense
C11orf24ENSG00000171067ENST00000304271p.S375Lc.1124C>TSubstitution - Missense
LMAN1LENSG00000140506ENST00000309664p.E435Ac.1304A>CSubstitution - Missense
INPP5KENSG00000132376ENST00000421807p.G307Sc.919G>ASubstitution - Missense
PLECENSG00000178209ENST00000354589p.I4109Mc.12327C>GSubstitution - Missense
CNTLNENSG00000044459ENST00000262360p.A877Ec.2630C>ASubstitution - Missense
PHF8ENSG00000172943ENST00000338946p.G332Gc.996G>TSubstitution - coding silent
ZNF407ENSG00000215421ENST00000577538p.E750Gc.2249A>GSubstitution - Missense
NBR1ENSG00000188554ENST00000389312p.D797Nc.2389G>ASubstitution - Missense
AIFM3ENSG00000183773ENST00000335375p.L83Lc.249C>TSubstitution - coding silent
CAPN3ENSG00000092529ENST00000318023p.?c.499-4G>TUnknown
OR4C15ENSG00000181939ENST00000314644p.A106Gc.317C>GSubstitution - Missense
CACNB2ENSG00000165995ENST00000377319p.P26Qc.77C>ASubstitution - Missense
PGRENSG00000082175ENST00000325455p.A855Ec.2564C>ASubstitution - Missense
LONRF1ENSG00000154359ENST00000398246p.R284Gc.850A>GSubstitution - Missense
TLL1ENSG00000038295ENST00000061240p.S796Rc.2388C>ASubstitution - Missense
HDAC9ENSG00000048052ENST00000441542p.A967Tc.2899G>ASubstitution - Missense
PCDHB15ENSG00000113248ENST00000231173p.R183Cc.547C>TSubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.S3561Sc.10683C>TSubstitution - coding silent
EZH2ENSG00000106462ENST00000350995p.L404Lc.1212C>TSubstitution - coding silent
CADPS2ENSG00000081803ENST00000313070p.A1052Sc.3154G>TSubstitution - Missense
DBF4BENSG00000161692ENST00000393547p.L11Lc.33C>GSubstitution - coding silent
ITSN1ENSG00000205726ENST00000381285p.Q1124Hc.3372G>CSubstitution - Missense
KIAA1109ENSG00000138688ENST00000455637p.H618Yc.1852C>TSubstitution - Missense
ZFP82ENSG00000181007ENST00000392171p.E95Kc.283G>ASubstitution - Missense
CELF6ENSG00000140488ENST00000395258p.K355Tc.1064A>CSubstitution - Missense
ATF7IPENSG00000171681ENST00000543189p.L724Vc.2170C>GSubstitution - Missense
GRIP1ENSG00000155974ENST00000359742p.?c.724+9G>AUnknown
RASSF4ENSG00000107551ENST00000334940p.Q157Hc.471G>CSubstitution - Missense
KIAA1456ENSG00000250305ENST00000524591p.S291Rc.873T>ASubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.L1372Lc.4116C>TSubstitution - coding silent
COL23A1ENSG00000050767ENST00000390654p.?c.1060-9G>TUnknown
FOXP2ENSG00000128573ENST00000408937p.*741*c.2222G>ASubstitution - coding silent
ENST00000316490p.L3484Lc.10452G>ASubstitution - coding silent
TRPV1ENSG00000196689ENST00000399756p.A36Ac.108C>ASubstitution - coding silent
SNX14ENSG00000135317ENST00000314673p.?c.1996-4C>GUnknown
AP2B1ENSG00000006125ENST00000312678p.E616*c.1846G>TSubstitution - Nonsense
ZNF292ENSG00000188994ENST00000339907p.S353Fc.1058C>TSubstitution - Missense
RAD51DENSG00000185379ENST00000335858p.?c.145-3C>AUnknown
TCERG1ENSG00000113649ENST00000296702p.F1019Fc.3057C>TSubstitution - coding silent
SPAG9ENSG00000008294ENST00000262013p.R1157Cc.3469C>TSubstitution - Missense
ENST00000382675p.A216Vc.647C>TSubstitution - Missense
PCDH11YENSG00000099715ENST00000362095p.S684Lc.2051C>TSubstitution - Missense
PCDH11YENSG00000099715ENST00000333703p.S673Lc.2018C>TSubstitution - Missense
UNC13AENSG00000130477ENST00000519716p.E1570Kc.4708G>ASubstitution - Missense
REXO1ENSG00000079313ENST00000170168p.A122Tc.364G>ASubstitution - Missense
CYB5R3ENSG00000100243ENST00000396303p.D177Hc.529G>CSubstitution - Missense
ZNF12ENSG00000164631ENST00000405858p.Y335Fc.1004A>TSubstitution - Missense
GYG2ENSG00000056998ENST00000381163p.S263Sc.789G>TSubstitution - coding silent
NM_004726.1p.K309Nc.927G>TSubstitution - Missense
NOX3ENSG00000074771ENST00000159060p.E38Qc.112G>CSubstitution - Missense
SEMA6AENSG00000092421ENST00000343348p.E475Kc.1423G>ASubstitution - Missense
A1BGENSG00000121410ENST00000263100p.E249Dc.747G>TSubstitution - Missense
ZNF606ENSG00000166704ENST00000341164p.G424Ec.1271G>ASubstitution - Missense
ZNF841ENSG00000197608ENST00000389534p.S387Cc.1160C>GSubstitution - Missense
NLRC3ENSG00000167984ENST00000301749p.?c.2658-3C>TUnknown
ENSG00000226321ENST00000430980p.E797Qc.2389G>CSubstitution - Missense
TTNENSG00000155657ENST00000342992p.E22868Kc.68602G>ASubstitution - Missense
HDHD2ENSG00000167220ENST00000300605p.L76Vc.226C>GSubstitution - Missense
TMC2ENSG00000149488ENST00000358864p.M676Ic.2028G>ASubstitution - Missense
BHLHE40ENSG00000134107ENST00000256495p.P314Qc.941C>ASubstitution - Missense
RWDD2BENSG00000156253ENST00000493196p.?c.363-10T>CUnknown
GRM7ENSG00000196277ENST00000389335p.L376Lc.1128G>ASubstitution - coding silent
ENST00000456564p.E1001Kc.3001G>ASubstitution - Missense
ENST00000268613_v61p.V631Vc.1893C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.P665Qc.1994C>ASubstitution - Missense
ING1ENSG00000153487ENST00000338450p.E186Kc.556G>ASubstitution - Missense
NUTM1ENSG00000184507ENST00000333756p.E582Ec.1746G>ASubstitution - coding silent
DENND4AENSG00000174485ENST00000431932p.D1663Nc.4987G>ASubstitution - Missense
C14orf159ENSG00000133943ENST00000523816p.V478Vc.1434C>TSubstitution - coding silent
MTHFD1ENSG00000100714ENST00000555709p.H873Dc.2617C>GSubstitution - Missense
KIAA1551ENSG00000174718ENST00000312561p.Q726Ec.2176C>GSubstitution - Missense
ADARENSG00000160710ENST00000368474p.Q120Hc.360G>CSubstitution - Missense
NINJ2ENSG00000171840ENST00000305108p.?c.400+6G>AUnknown
GRIA4ENSG00000152578ENST00000393127p.S861Lc.2582C>TSubstitution - Missense
FAM13CENSG00000148541ENST00000373868p.?c.593-8T>AUnknown
REG4ENSG00000134193ENST00000369401p.E103Kc.307G>ASubstitution - Missense
LINGO4ENSG00000213171ENST00000368820p.S289Sc.867A>TSubstitution - coding silent
CDK11AENSG00000008128ENST00000357760p.Y67Yc.201T>CSubstitution - coding silent
RTN3ENSG00000133318ENST00000339997p.S307Sc.921C>ASubstitution - coding silent
CMTM5ENSG00000166091ENST00000359320p.R84Cc.250C>TSubstitution - Missense
LRP10ENSG00000197324ENST00000359591p.F203Fc.609C>TSubstitution - coding silent
ZRANB1ENSG00000019995ENST00000359653p.W650Lc.1949G>TSubstitution - Missense
OR10Z1ENSG00000198967ENST00000361284p.L39Lc.117G>ASubstitution - coding silent


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