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KOSC-2 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

816 mutations reported
325 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
VEZTENSG00000028203ENST00000436874p.E44Ec.132G>ASubstitution - coding silent
AMY2BENSG00000240038ENST00000361355p.A307Vc.920C>TSubstitution - Missense
TMEM132CENSG00000181234ENST00000315208p.E77Dc.231G>CSubstitution - Missense
TC2NENSG00000165929ENST00000360594p.E149Dc.447A>CSubstitution - Missense
DOCK8ENSG00000107099ENST00000432829p.Q1567Rc.4700A>GSubstitution - Missense
XM_374491.1p.?c.1890+3C>TUnknown
ZNF250ENSG00000196150ENST00000292579p.P137Pc.411A>GSubstitution - coding silent
SMURF1ENSG00000198742ENST00000361125p.Y505Cc.1514A>GSubstitution - Missense
FHOD1ENSG00000135723ENST00000258201p.R506Wc.1516C>TSubstitution - Missense
MAP7ENSG00000135525ENST00000354570p.P649Pc.1947G>ASubstitution - coding silent
DROSHAENSG00000113360ENST00000511367p.P110Rc.329C>GSubstitution - Missense
RASIP1ENSG00000105538ENST00000222145p.G417Rc.1249G>ASubstitution - Missense
ENSG00000214732ENST00000372963p.R93Qc.278G>ASubstitution - Missense
BHMT2ENSG00000132840ENST00000255192p.G289Rc.865G>ASubstitution - Missense
MAP4ENSG00000047849ENST00000264724p.T823Tc.2469T>CSubstitution - coding silent
SGK1ENSG00000118515ENST00000367858p.?c.1414-6T>AUnknown
CTSAENSG00000064601ENST00000372484p.A174Ac.522C>TSubstitution - coding silent
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
LCP2ENSG00000043462ENST00000046794p.P288Qc.863C>ASubstitution - Missense
MROH9ENSG00000117501ENST00000426136p.?c.416-5T>GUnknown
POM121L12ENSG00000221900ENST00000408890p.R146Hc.437G>ASubstitution - Missense
NFRKBENSG00000170322ENST00000524794p.R158Qc.473G>ASubstitution - Missense
PARP6ENSG00000137817ENST00000287196p.Q552Qc.1656G>ASubstitution - coding silent
SOX6ENSG00000110693ENST00000316399p.Q518Ec.1552C>GSubstitution - Missense
NFASCENSG00000163531ENST00000403080p.R431Qc.1292G>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.S45Gc.133A>GSubstitution - Missense
CCDC92ENSG00000119242ENST00000238156p.?c.181+7C>TUnknown
IGSF22ENSG00000179057ENST00000319338p.Y308Yc.924C>TSubstitution - coding silent
PIAS3ENSG00000131788ENST00000393045p.L37Lc.111C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000347598p.C1255*c.3765C>ASubstitution - Nonsense
KIF16BENSG00000089177ENST00000354981p.E638Kc.1912G>ASubstitution - Missense
ISM1ENSG00000101230ENST00000262487p.C233Cc.699C>TSubstitution - coding silent
CCDC78ENSG00000162004ENST00000293889p.?c.766-9C>TUnknown
TNRC6CENSG00000078687ENST00000335749p.F1579Fc.4737C>TSubstitution - coding silent
PARP10ENSG00000178685ENST00000313028p.R486Wc.1456C>TSubstitution - Missense
MGAMENSG00000257335ENST00000475668p.T914Tc.2742A>GSubstitution - coding silent
DYNC1I1ENSG00000158560ENST00000324972p.T449Mc.1346C>TSubstitution - Missense
BAIAP2L1ENSG00000006453ENST00000005260p.R224Qc.671G>ASubstitution - Missense
TRANK1ENSG00000168016ENST00000301807p.A1566Ac.4698C>TSubstitution - coding silent
BOD1L1ENSG00000038219ENST00000040738p.E1751Ec.5253G>ASubstitution - coding silent
CDH5ENSG00000179776ENST00000341529p.R207Hc.620G>ASubstitution - Missense
RASIP1ENSG00000105538ENST00000222145p.G417Rc.1249G>ASubstitution - Missense
AGTPBP1ENSG00000135049ENST00000357081p.?c.3504-4G>AUnknown
OR2A2ENSG00000221989ENST00000408979p.G252Rc.754G>CSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
CUL9ENSG00000112659ENST00000252050p.T1639Tc.4917C>TSubstitution - coding silent
ITFG3ENSG00000167930ENST00000450082p.A175Gc.524C>GSubstitution - Missense
ENST00000457681_v70p.E144Qc.430G>CSubstitution - Missense
IKBKGENSG00000073009ENST00000369609p.L129Lc.387C>GSubstitution - coding silent
GTF3C1ENSG00000077235ENST00000356183p.R1163Rc.3489C>TSubstitution - coding silent
TUBGCP6ENSG00000128159ENST00000248846p.E13Kc.37G>ASubstitution - Missense
ATP6V0A1ENSG00000033627ENST00000343619p.D227Dc.681T>CSubstitution - coding silent
NEBENSG00000183091ENST00000427231p.N1892Sc.5675A>GSubstitution - Missense
GGT2ENSG00000133475ENST00000401924p.P411Ac.1231C>GSubstitution - Missense
POU6F2ENSG00000106536ENST00000403058p.S361Sc.1083C>TSubstitution - coding silent
EDN3ENSG00000124205ENST00000395654p.A142Ac.426G>ASubstitution - coding silent
MCF2LENSG00000126217ENST00000375608p.F237Fc.711C>TSubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.T4118Tc.12354G>ASubstitution - coding silent
GAREMLENSG00000157833ENST00000401533p.P545Lc.1634C>TSubstitution - Missense
OR52L1ENSG00000183313ENST00000332249p.R266Hc.797G>ASubstitution - Missense
KRT81ENSG00000205426ENST00000327741p.R24Hc.71G>ASubstitution - Missense
HSP90B1ENSG00000166598ENST00000299767p.R466Cc.1396C>TSubstitution - Missense
FCRLBENSG00000162746ENST00000367948p.S178Sc.534C>TSubstitution - coding silent
SBNO1ENSG00000139697ENST00000267176p.D22Nc.64G>ASubstitution - Missense
AGPAT5ENSG00000155189ENST00000285518p.H261Hc.783C>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.?c.38203-9C>GUnknown
C1orf173ENSG00000178965ENST00000326665p.D139Gc.416A>GSubstitution - Missense
ABATENSG00000183044ENST00000396600p.R250Wc.748C>TSubstitution - Missense
MGAT4BENSG00000161013ENST00000337755p.L559Lc.1677G>TSubstitution - coding silent
ATP8B3ENSG00000130270ENST00000525591p.F738fs*17c.2212_2216delTTCGCDeletion - Frameshift
IZUMO4ENSG00000099840ENST00000395301p.R187Cc.559C>TSubstitution - Missense
COL6A5ENSG00000172752ENST00000312481p.N33Sc.98A>GSubstitution - Missense
OR2K2ENSG00000171133ENST00000374428p.L254Pc.761T>CSubstitution - Missense
ABCG5ENSG00000138075ENST00000260645p.F356Lc.1068C>GSubstitution - Missense
SH3BP2ENSG00000087266ENST00000356331p.T284fs*72c.849_864del16Deletion - Frameshift
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
CCDC39ENSG00000145075ENST00000442201p.S453Rc.1359C>ASubstitution - Missense
GCLCENSG00000001084ENST00000229416p.A179Gc.536C>GSubstitution - Missense
TTC8ENSG00000165533ENST00000338104p.D161Nc.481G>ASubstitution - Missense
WNK2ENSG00000165238ENST00000427277p.V1396Mc.4186G>ASubstitution - Missense
HNRNPA1L2ENSG00000139675ENST00000357495p.D27Ec.81T>GSubstitution - Missense
IPO4ENSG00000196497ENST00000354464p.A500Ac.1500T>CSubstitution - coding silent
CD248ENSG00000174807ENST00000311330p.S443delSc.1326_1328delCTCDeletion - In frame
AKT1ENSG00000142208ENST00000349310p.S431Sc.1293G>ASubstitution - coding silent
CHD8ENSG00000100888ENST00000430710p.Q702Rc.2105A>GSubstitution - Missense
ZNF684ENSG00000117010ENST00000372699p.C164Cc.492C>TSubstitution - coding silent
OR2T2ENSG00000196240ENST00000342927p.T220Mc.659C>TSubstitution - Missense
EDN3ENSG00000124205ENST00000311585p.A142Ac.426G>ASubstitution - coding silent
MIER2ENSG00000105556ENST00000264819p.?c.244-10C>TUnknown
TOM1L2ENSG00000175662ENST00000581396p.?c.1053-9C>TUnknown
ENST00000255403p.T38Sc.113C>GSubstitution - Missense
LRIG1ENSG00000144749ENST00000383703p.S115Sc.345A>CSubstitution - coding silent
ZNF860ENSG00000197385ENST00000360311p.T358Tc.1074A>GSubstitution - coding silent
SLC8A2ENSG00000118160ENST00000236877p.A69Vc.206C>TSubstitution - Missense
CCDC171ENSG00000164989ENST00000380701p.S711Lc.2132C>TSubstitution - Missense
ZNF382ENSG00000161298ENST00000292928p.S360Pc.1078T>CSubstitution - Missense
PGM3ENSG00000013375ENST00000513973p.I387Vc.1159A>GSubstitution - Missense
WDR17ENSG00000150627ENST00000280190p.G32Vc.95G>TSubstitution - Missense
NEIL3ENSG00000109674ENST00000264596p.R517Qc.1550G>ASubstitution - Missense
PTPRSENSG00000105426ENST00000372412p.A995Tc.2983G>ASubstitution - Missense
BBS4ENSG00000140463ENST00000395205p.A236Ac.708A>CSubstitution - coding silent
MCF2LENSG00000126217ENST00000423482p.F205Fc.615C>TSubstitution - coding silent
ASXL1ENSG00000171456ENST00000306058p.C1199Wc.3597C>GSubstitution - Missense
ENST00000335056_v70p.S202fs*15c.604delTDeletion - Frameshift
PITPNM2ENSG00000090975ENST00000320201p.R461Cc.1381C>TSubstitution - Missense
BROXENSG00000162819ENST00000340934p.Q104Qc.312G>ASubstitution - coding silent
FAM86C1ENSG00000158483ENST00000426628p.?c.390+3G>CUnknown
CCDC19ENSG00000213085ENST00000368099p.R461Rc.1381C>ASubstitution - coding silent
DNM3ENSG00000197959ENST00000358155p.T746Tc.2238T>CSubstitution - coding silent
SORCS1ENSG00000108018ENST00000344440p.E204Gc.611A>GSubstitution - Missense
NM_006105.3p.V685Vc.2055G>TSubstitution - coding silent
SLC38A4ENSG00000139209ENST00000266579p.F432Fc.1296C>TSubstitution - coding silent
KRTAP5-2ENSG00000205867ENST00000412090p.G99Gc.297C>TSubstitution - coding silent
CACNA1CENSG00000151067ENST00000399634p.C1235*c.3705C>ASubstitution - Nonsense
SPNS2ENSG00000183018ENST00000329078p.L405Lc.1215G>ASubstitution - coding silent
LINGO2ENSG00000174482ENST00000379992p.I304Vc.910A>GSubstitution - Missense
CLCN4ENSG00000073464ENST00000380833p.P607Sc.1819C>TSubstitution - Missense
MBD3L2ENSG00000230522ENST00000381393p.A185Dc.554C>ASubstitution - Missense
USP25ENSG00000155313ENST00000285679p.A718Vc.2153C>TSubstitution - Missense
ENST00000342088p.A276Vc.827C>TSubstitution - Missense
ACTL7AENSG00000187003ENST00000333999p.P228Sc.682C>TSubstitution - Missense
PNPLA8ENSG00000135241ENST00000257694p.R125Hc.374G>ASubstitution - Missense
SYNGAP1ENSG00000197283ENST00000293748p.M909fs*165c.2727_2736del10Deletion - Frameshift
XIRP2ENSG00000163092ENST00000295237p.S2098Lc.6293C>TSubstitution - Missense
SLC26A6ENSG00000225697ENST00000383733p.A443Ac.1329G>ASubstitution - coding silent
CHST12ENSG00000136213ENST00000258711p.V159Mc.475G>ASubstitution - Missense
A2ML1ENSG00000166535ENST00000299698p.S406Sc.1218C>TSubstitution - coding silent
ARAP1ENSG00000186635ENST00000334211p.P7Sc.19C>TSubstitution - Missense
PTX4ENSG00000251692ENST00000447419p.N67Ic.200A>TSubstitution - Missense
CRKENSG00000167193ENST00000300574p.R138Qc.413G>ASubstitution - Missense
LRRC37A2ENSG00000238083ENST00000333412p.T1219Rc.3656C>GSubstitution - Missense
DNM2ENSG00000079805ENST00000359692p.P767Lc.2300C>TSubstitution - Missense
LGI3ENSG00000168481ENST00000306317p.R478Hc.1433G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.R3900Hc.11699G>ASubstitution - Missense
ZNF415ENSG00000170954ENST00000243643p.A428Vc.1283C>TSubstitution - Missense
SASH1ENSG00000111961ENST00000367467p.D564Nc.1690G>ASubstitution - Missense
MCM2ENSG00000073111ENST00000265056p.E718Gc.2153A>GSubstitution - Missense
LAMA1ENSG00000101680ENST00000389658p.R1140Hc.3419G>ASubstitution - Missense
VCX3AENSG00000169059ENST00000381089p.V160Lc.478G>CSubstitution - Missense
RAB6BENSG00000154917ENST00000285208p.?c.495+9A>CUnknown
ALG8ENSG00000159063ENST00000299626p.L175Lc.525C>GSubstitution - coding silent
NM_014903.3p.D127Gc.380A>GSubstitution - Missense
CLEC9AENSG00000197992ENST00000355819p.D190Hc.568G>CSubstitution - Missense
ERCC5ENSG00000134899ENST00000355739p.A98Ac.294G>ASubstitution - coding silent
RNF220ENSG00000187147ENST00000355387p.S156Lc.467C>TSubstitution - Missense
MKNK1ENSG00000079277ENST00000371946p.D23Yc.67G>TSubstitution - Missense
ERO1LENSG00000197930ENST00000395686p.G239Vc.716G>TSubstitution - Missense
DDX55ENSG00000111364ENST00000238146p.V291Lc.871G>CSubstitution - Missense
TTC8ENSG00000165533ENST00000380656p.D171Nc.511G>ASubstitution - Missense
KIR3DX1ENSG00000104970ENST00000335056p.S202fs*15c.604delTDeletion - Frameshift
ITGB4ENSG00000132470ENST00000339591p.P1188Lc.3563C>TSubstitution - Missense
BRWD1ENSG00000185658ENST00000342449p.K1915Tc.5744A>CSubstitution - Missense
DOCK8ENSG00000107099ENST00000453981p.Q1635Rc.4904A>GSubstitution - Missense
LINGO2ENSG00000174482ENST00000379992p.I304Vc.910A>GSubstitution - Missense
ARHGEF10ENSG00000104728ENST00000398560p.C155Sc.464G>CSubstitution - Missense
IMPG2ENSG00000081148ENST00000193391p.A407Sc.1219G>TSubstitution - Missense
THOC6ENSG00000131652ENST00000326266p.L305Lc.915C>TSubstitution - coding silent
TGM4ENSG00000163810ENST00000296125p.Q50Hc.150G>TSubstitution - Missense
EFHC1ENSG00000096093ENST00000371068p.L513fs*1c.1535delTDeletion - Frameshift
FAM153BENSG00000182230ENST00000253490p.E237Kc.709G>ASubstitution - Missense
CENPKENSG00000123219ENST00000396679p.D130Yc.388G>TSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.A482Pc.1444G>CSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.R490Wc.1468C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313382p.R556Wc.1666C>TSubstitution - Missense
ZNF134ENSG00000213762ENST00000396161p.K60Rc.179A>GSubstitution - Missense
BBS4ENSG00000140463ENST00000268057p.A228Ac.684A>CSubstitution - coding silent
MYH6ENSG00000197616ENST00000356287p.R1691Cc.5071C>TSubstitution - Missense
PDE8AENSG00000073417ENST00000310298p.?c.2086-8T>AUnknown
TRPC6ENSG00000137672ENST00000344327p.E74Kc.220G>ASubstitution - Missense
ENST00000343901_v65p.T252Ac.754A>GSubstitution - Missense
CD33ENSG00000105383ENST00000262262p.I198Mc.594A>GSubstitution - Missense
CECR2ENSG00000099954ENST00000262608p.N1034Nc.3102C>TSubstitution - coding silent
TRRAPENSG00000196367ENST00000359863p.L2130Lc.6388C>TSubstitution - coding silent
ZNF860ENSG00000197385ENST00000360311p.T358Tc.1074A>GSubstitution - coding silent
KCTD2ENSG00000180901ENST00000322444p.?c.636+10T>CUnknown
ZNF135ENSG00000176293ENST00000313434p.R252Wc.754C>TSubstitution - Missense
RASSF2ENSG00000101265ENST00000379400p.R150Cc.448C>TSubstitution - Missense
TMBIM6ENSG00000139644ENST00000423828p.F276Fc.828C>TSubstitution - coding silent
RAPGEF3ENSG00000079337ENST00000449771p.V727Vc.2181G>TSubstitution - coding silent
CHD8ENSG00000100888ENST00000399982p.Q981Rc.2942A>GSubstitution - Missense
TTC40ENSG00000171811ENST00000368586p.E964Ec.2892G>ASubstitution - coding silent
RELTENSG00000054967ENST00000064780p.C32Cc.96C>TSubstitution - coding silent
FAM231DENSG00000203815ENST00000369173p.R81Cc.241C>TSubstitution - Missense
SOX6ENSG00000110693ENST00000527619p.Q494Ec.1480C>GSubstitution - Missense
JAM3ENSG00000166086ENST00000299106p.H204Dc.610C>GSubstitution - Missense
MROH9ENSG00000117501ENST00000367759p.?c.1597-5T>GUnknown
NM_000036.1p.R447Rc.1341C>TSubstitution - coding silent
TIE1ENSG00000066056ENST00000372476p.G475Gc.1425A>GSubstitution - coding silent
EDN3ENSG00000124205ENST00000337938p.A142Ac.426G>ASubstitution - coding silent
DLGAP1ENSG00000170579ENST00000534970p.K325Rc.974A>GSubstitution - Missense
DOCK6ENSG00000130158ENST00000319867p.H810Hc.2430T>CSubstitution - coding silent
KPNA2ENSG00000182481ENST00000330459p.E266Qc.796G>CSubstitution - Missense
LRRCC1ENSG00000133739ENST00000414626p.H951Yc.2851C>TSubstitution - Missense
KPNA7ENSG00000185467ENST00000327442p.T214Ic.641C>TSubstitution - Missense
NHLRC4ENSG00000257108ENST00000424439p.G3Dc.8G>ASubstitution - Missense
ARPP21ENSG00000172995ENST00000458225p.Q524Kc.1570C>ASubstitution - Missense
ZNF471ENSG00000196263ENST00000308031p.S113Tc.338G>CSubstitution - Missense
ZNF135ENSG00000176293ENST00000401053p.R276Wc.826C>TSubstitution - Missense
ITFG3ENSG00000167930ENST00000301678p.A175Gc.524C>GSubstitution - Missense
COL6A5ENSG00000172752ENST00000265379p.N1994Sc.5981A>GSubstitution - Missense
ATP8B3ENSG00000130270ENST00000539485p.F785fs*17c.2353_2357delTTCGCDeletion - Frameshift
PLXNB3ENSG00000198753ENST00000538966p.D1613Ec.4839C>GSubstitution - Missense
TCOF1ENSG00000070814ENST00000504761p.K1462Rc.4385A>GSubstitution - Missense
NFASCENSG00000163531ENST00000367171p.R431Qc.1292G>ASubstitution - Missense
MCF2LENSG00000126217ENST00000375601p.F211Fc.633C>TSubstitution - coding silent
RHOAENSG00000067560ENST00000418115p.R5Qc.14G>ASubstitution - Missense
INTS4ENSG00000149262ENST00000534064p.?c.657+4_657+5delaaUnknown
ENST00000279593p.G1040Sc.3118G>ASubstitution - Missense
NAV3ENSG00000067798ENST00000397909p.D127Gc.380A>GSubstitution - Missense
ZNF408ENSG00000175213ENST00000311764p.P235Rc.704C>GSubstitution - Missense
CMTM5ENSG00000166091ENST00000359320p.L2Ic.4C>ASubstitution - Missense
ZFHX2ENSG00000136367ENST00000419474p.P1072Sc.3214C>TSubstitution - Missense
TTF2ENSG00000116830ENST00000369466p.K187Kc.561A>GSubstitution - coding silent
EDEM3ENSG00000116406ENST00000318130p.Q12Ec.34C>GSubstitution - Missense
GPR61ENSG00000156097ENST00000404129p.A444Ac.1332C>TSubstitution - coding silent
NBPF4ENSG00000196427ENST00000415641p.H492Qc.1476C>ASubstitution - Missense
OSBPL5ENSG00000021762ENST00000263650p.L250Lc.750G>ASubstitution - coding silent
NAA30ENSG00000139977ENST00000556492p.V105Gc.314T>GSubstitution - Missense
ENST00000389961_v65p.M1187Tc.3560T>CSubstitution - Missense
CACNA1CENSG00000151067ENST00000399617p.C1235*c.3705C>ASubstitution - Nonsense
CACNA1CENSG00000151067ENST00000402845p.C1285*c.3855C>ASubstitution - Nonsense
NFASCENSG00000163531ENST00000360049p.R442Qc.1325G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.P11540Lc.34619C>TSubstitution - Missense
KANSL1LENSG00000144445ENST00000281772p.H962Hc.2886T>CSubstitution - coding silent
ITGAVENSG00000138448ENST00000261023p.P13Pc.39C>TSubstitution - coding silent
DNAH2ENSG00000183914ENST00000389173p.R702Wc.2104C>TSubstitution - Missense
ENST00000379640p.K107fs*>15c.321delADeletion - Frameshift
KRTAP10-12ENSG00000189169ENST00000400365p.R13Rc.39C>TSubstitution - coding silent
DOCK6ENSG00000130158ENST00000319867p.I1532Tc.4595T>CSubstitution - Missense
ZNF799ENSG00000196466ENST00000430385p.N586Nc.1758C>TSubstitution - coding silent
MAP2K3ENSG00000034152ENST00000361818p.T304Mc.911C>TSubstitution - Missense
UGT1A4ENSG00000244474ENST00000373409p.?c.867+1G>TUnknown
DCHS2ENSG00000197410ENST00000357232p.P175Pc.525T>CSubstitution - coding silent
RIMS2ENSG00000176406ENST00000436393p.G960Ec.2879G>ASubstitution - Missense
ANXA10ENSG00000109511ENST00000359299p.A130Tc.388G>ASubstitution - Missense
NEBENSG00000183091ENST00000409198p.S6244Sc.18732G>ASubstitution - coding silent
PIAS3ENSG00000131788ENST00000369299p.L28Lc.84C>TSubstitution - coding silent
MYRFLENSG00000166268ENST00000299350p.R81Rc.243G>TSubstitution - coding silent
SLC29A2ENSG00000174669ENST00000357440p.G47Rc.139G>CSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.Q52>P*c.154_155insCATComplex - insertion inframe
CNTN3ENSG00000113805ENST00000263665p.D654Nc.1960G>ASubstitution - Missense
DLGAP1ENSG00000170579ENST00000539435p.K349Rc.1046A>GSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.?c.5898-5T>CUnknown
PRODHENSG00000100033ENST00000357068p.I390Ic.1170C>TSubstitution - coding silent
UBA1ENSG00000130985ENST00000377269p.T116Ic.347C>TSubstitution - Missense
EFCAB6ENSG00000186976ENST00000262726p.Q1340Hc.4020G>CSubstitution - Missense
TMEM43ENSG00000170876ENST00000306077p.R299Tc.896G>CSubstitution - Missense
PRMT10ENSG00000164169ENST00000322396p.L96Lc.288G>ASubstitution - coding silent
AXLENSG00000167601ENST00000359092p.I44Ic.132C>TSubstitution - coding silent
ZNF780BENSG00000128000ENST00000434248p.F790Fc.2370T>CSubstitution - coding silent
SLC17A9ENSG00000101194ENST00000411611p.E110Ac.329A>CSubstitution - Missense
ENST00000426610_v68p.E336fs*33c.1007_1031del25Deletion - Frameshift
KRT18ENSG00000111057ENST00000388835p.?c.1172+1_1173-1del379Unknown
CD244ENSG00000122223ENST00000368033p.?c.670+8G>CUnknown
PCNXENSG00000100731ENST00000304743p.R1831Cc.5491C>TSubstitution - Missense
CACNA1SENSG00000081248ENST00000362061p.A1739Ac.5217C>TSubstitution - coding silent
PDE4DIPENSG00000178104ENST00000369354p.L1361Lc.4083G>TSubstitution - coding silent
PADI3ENSG00000142619ENST00000375460p.P360Pc.1080G>TSubstitution - coding silent
IGSF22ENSG00000179057ENST00000513874p.Y308Yc.924C>TSubstitution - coding silent
MBTPS1ENSG00000140943ENST00000343411p.L9Fc.25C>TSubstitution - Missense
TEX13AENSG00000133149ENST00000413579p.R27Gc.79A>GSubstitution - Missense
ITGA3ENSG00000005884ENST00000007722p.P681Pc.2043C>TSubstitution - coding silent
ANKRD20A4ENSG00000172014ENST00000357336p.P426Sc.1276C>TSubstitution - Missense
ARHGEF10ENSG00000104728ENST00000349830p.C131Sc.392G>CSubstitution - Missense
TAS2R3ENSG00000127362ENST00000247879p.L122Fc.364C>TSubstitution - Missense
QARSENSG00000172053ENST00000306125p.R524Wc.1570C>TSubstitution - Missense
NME4ENSG00000103202ENST00000219479p.?c.328-3C>AUnknown
KIF3CENSG00000084731ENST00000264712p.I646Ic.1938C>TSubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.T914Tc.2742A>GSubstitution - coding silent
ZNF419ENSG00000105136ENST00000424930p.Q335Rc.1004A>GSubstitution - Missense
AGFG1ENSG00000173744ENST00000409979p.?c.540+8G>CUnknown
TEX14ENSG00000121101ENST00000240361p.T816Nc.2447C>ASubstitution - Missense
MED26ENSG00000105085ENST00000263390p.R545Qc.1634G>ASubstitution - Missense
CRB2ENSG00000148204ENST00000373631p.C766Yc.2297G>ASubstitution - Missense
DENND1AENSG00000119522ENST00000373624p.F494Fc.1482T>CSubstitution - coding silent
MCF2LENSG00000126217ENST00000434480p.F213Fc.639C>TSubstitution - coding silent
CRB2ENSG00000148204ENST00000359999p.G255Gc.765C>TSubstitution - coding silent
INTS7ENSG00000143493ENST00000366994p.K92Kc.276A>GSubstitution - coding silent
PZPENSG00000126838ENST00000381997p.L949Qc.2846T>ASubstitution - Missense
B4GALNT3ENSG00000139044ENST00000266383p.E454Kc.1360G>ASubstitution - Missense
ARFIP2ENSG00000132254ENST00000396777p.S74Nc.221G>ASubstitution - Missense
LCKENSG00000182866ENST00000336890p.T416Ic.1247C>TSubstitution - Missense
POSTNENSG00000133110ENST00000379747p.G182Sc.544G>ASubstitution - Missense
BICC1ENSG00000122870ENST00000373886p.W974*c.2921G>ASubstitution - Nonsense
XCL2ENSG00000143185ENST00000367819p.T37Tc.111C>GSubstitution - coding silent
NBPF10ENSG00000163386ENST00000369338p.?c.989-4G>TUnknown
NAPBENSG00000125814ENST00000377026p.S201Gc.601A>GSubstitution - Missense
SEL1L2ENSG00000101251ENST00000284951p.A588Ac.1764G>ASubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.M1080Vc.3238A>GSubstitution - Missense
RBM28ENSG00000106344ENST00000223073p.P434Sc.1300C>TSubstitution - Missense
PHKBENSG00000102893ENST00000323584p.?c.3003+4A>GUnknown
HM13ENSG00000101294ENST00000398174p.M1Kc.2T>ASubstitution - Missense
XKR3ENSG00000172967ENST00000331428p.K229Kc.687G>ASubstitution - coding silent
IMPA2ENSG00000141401ENST00000269159p.R145Rc.435G>CSubstitution - coding silent
KIAA0226ENSG00000145016ENST00000273582p.H660Yc.1978C>TSubstitution - Missense
FBXO7ENSG00000100225ENST00000266087p.?c.123-10T>GUnknown
NLRP8ENSG00000179709ENST00000291971p.G561Sc.1681G>ASubstitution - Missense
H1FOOENSG00000178804ENST00000324382p.S8Sc.24C>TSubstitution - coding silent
GPR126ENSG00000112414ENST00000367609p.V151Mc.451G>ASubstitution - Missense
CD83ENSG00000112149ENST00000379153p.R133Cc.397C>TSubstitution - Missense
KIAA1958ENSG00000165185ENST00000337530p.G524Gc.1572C>TSubstitution - coding silent
AXLENSG00000167601ENST00000301178p.I44Ic.132C>TSubstitution - coding silent
KIAA1107ENSG00000069712ENST00000409154p.V312Ec.935T>ASubstitution - Missense
ENST00000318130_v70p.Q55Ec.163C>GSubstitution - Missense
SPDYE2BENSG00000173678ENST00000436228p.S221Sc.663G>ASubstitution - coding silent
OXER1ENSG00000162881ENST00000378661p.V75Lc.223G>CSubstitution - Missense
ENST00000316490_v65p.?c.8394-7T>CUnknown
PLTPENSG00000100979ENST00000372431p.G467Gc.1401G>ASubstitution - coding silent
EPHA5ENSG00000145242ENST00000273854p.S673Tc.2017T>ASubstitution - Missense
CA10ENSG00000154975ENST00000340813p.?c.483+3A>GUnknown
ENST00000466655p.M65Ic.195G>ASubstitution - Missense
SYT14ENSG00000143469ENST00000534859p.R344Wc.1030C>TSubstitution - Missense
PTGR2ENSG00000140043ENST00000267568p.V74Ic.220G>ASubstitution - Missense
FAM78AENSG00000126882ENST00000372269p.?c.315-3C>GUnknown
ATP6V0A1ENSG00000033627ENST00000264649p.D234Dc.702T>CSubstitution - coding silent
TRAFD1ENSG00000135148ENST00000412615p.L279Lc.837C>TSubstitution - coding silent
RFPL4AENSG00000223638ENST00000434937p.C247Sc.740G>CSubstitution - Missense
ENSG00000258465ENST00000556710p.R358Hc.1073G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.I6615Ic.19845C>TSubstitution - coding silent
MYO7AENSG00000137474ENST00000409709p.?c.3376-6G>AUnknown
KIAA1467ENSG00000084444ENST00000197268p.V77Vc.231C>TSubstitution - coding silent
KIAA1107ENSG00000069712ENST00000370378p.V257Ec.770T>ASubstitution - Missense
OSMRENSG00000145623ENST00000274276p.N360Nc.1080T>CSubstitution - coding silent
CCDC17ENSG00000159588ENST00000343901p.T252Ac.754A>GSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.M1080Vc.3238A>GSubstitution - Missense
SMC5ENSG00000198887ENST00000361138p.I604fs*3c.1804_1805ins22Insertion - Frameshift
DPYSL2ENSG00000092964ENST00000311151p.N387Sc.1160A>GSubstitution - Missense
SYCP2ENSG00000196074ENST00000357552p.L1366Lc.4098C>GSubstitution - coding silent
NCOA6ENSG00000198646ENST00000374796p.Q279_Q285delQQQQQQQc.819_839del21Deletion - In frame
AKR1B15ENSG00000227471ENST00000423958p.D150Dc.450C>TSubstitution - coding silent
ENST00000273600p.A372Sc.1114G>TSubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.A1225Ac.3675G>ASubstitution - coding silent
ASXL1ENSG00000171456ENST00000375687p.C1204Wc.3612C>GSubstitution - Missense
FZR1ENSG00000105325ENST00000441788p.P431Ac.1291C>GSubstitution - Missense
KITENSG00000157404ENST00000288135p.T304Ac.910A>GSubstitution - Missense
LRP4ENSG00000134569ENST00000378623p.G870Dc.2609G>ASubstitution - Missense
NR2C1ENSG00000120798ENST00000333003p.M242Vc.724A>GSubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.C1235*c.3705C>ASubstitution - Nonsense
DNM1LENSG00000087470ENST00000553257p.?c.1636-4_1636-3insTAUnknown
PER3ENSG00000049246ENST00000361923p.Q406Qc.1218A>GSubstitution - coding silent
F7ENSG00000057593ENST00000375581p.G22Gc.66C>TSubstitution - coding silent
EFNB3ENSG00000108947ENST00000226091p.S141Lc.422C>TSubstitution - Missense
TP53ENSG00000141510ENST00000413465p.Q52>P*c.154_155insCATComplex - insertion inframe
ADRA2BENSG00000222040ENST00000409345p.P146Pc.438G>ASubstitution - coding silent
ENST00000405167p.H1005Hc.3015C>TSubstitution - coding silent
ENST00000316893p.R133Cc.397C>TSubstitution - Missense
AGFG1ENSG00000173744ENST00000310078p.?c.540+8G>CUnknown
CHL1ENSG00000134121ENST00000256509p.F1197Cc.3590T>GSubstitution - Missense
BRCA1ENSG00000012048ENST00000471181p.L1801Lc.5403G>TSubstitution - coding silent
SMPD2ENSG00000135587ENST00000258052p.D171Dc.513C>TSubstitution - coding silent
PLXNB3ENSG00000198753ENST00000361971p.D1590Ec.4770C>GSubstitution - Missense
EZH1ENSG00000108799ENST00000428826p.D181Yc.541G>TSubstitution - Missense
SYNGAP1ENSG00000197283ENST00000418600p.M909fs*165c.2727_2736del10Deletion - Frameshift
OR5D18ENSG00000186119ENST00000333976p.R123Cc.367C>TSubstitution - Missense
KIAA1109ENSG00000138688ENST00000455637p.F490Fc.1470C>TSubstitution - coding silent
ASAH2CENSG00000072444ENST00000426610p.E336fs*33c.1007_1031del25Deletion - Frameshift
FOCADENSG00000188352ENST00000380249p.A446Ac.1338T>CSubstitution - coding silent
KBTBD6ENSG00000165572ENST00000379485p.S641Cc.1921A>TSubstitution - Missense
MYH6ENSG00000197616ENST00000356287p.R1339Qc.4016G>ASubstitution - Missense
ZFHX2ENSG00000136367ENST00000419474p.L271Lc.813G>ASubstitution - coding silent
OR4Q3ENSG00000182652ENST00000331723p.Q160Hc.480G>TSubstitution - Missense
OAZ3ENSG00000143450ENST00000321531p.?c.301-10C>TUnknown
PDE4DIPENSG00000178104ENST00000313382p.L1317Lc.3951G>TSubstitution - coding silent
MGAT5BENSG00000167889ENST00000428789p.R387Wc.1159C>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.Q52>P*c.154_155insCATComplex - insertion inframe
DEFA3ENSG00000239839ENST00000327857p.?c.176-7G>AUnknown
ARFGEF1ENSG00000066777ENST00000262215p.R1345Qc.4034G>ASubstitution - Missense
GDF6ENSG00000156466ENST00000287020p.K424Rc.1271A>GSubstitution - Missense
EVI5ENSG00000067208ENST00000543509p.S29Cc.86C>GSubstitution - Missense
VEGFBENSG00000173511ENST00000426086p.T57Tc.171T>CSubstitution - coding silent
SLC43A3ENSG00000134802ENST00000395123p.?c.314+1G>TUnknown
CNTN1ENSG00000018236ENST00000547849p.P271Pc.813G>ASubstitution - coding silent
PITPNM2ENSG00000090975ENST00000280562p.R461Cc.1381C>TSubstitution - Missense
YBX3ENSG00000060138ENST00000228251p.R175Hc.524G>ASubstitution - Missense
DGKHENSG00000102780ENST00000379274p.I481Vc.1441A>GSubstitution - Missense
ENST00000321531_v70p.?c.169-10C>TUnknown
PDE4DIPENSG00000178104ENST00000369351p.R490Wc.1468C>TSubstitution - Missense
CD244ENSG00000122223ENST00000368032p.?c.655+8G>CUnknown
USH2AENSG00000042781ENST00000366943p.S2389Sc.7167C>TSubstitution - coding silent
SYT14ENSG00000143469ENST00000422431p.R389Wc.1165C>TSubstitution - Missense
NFASCENSG00000163531ENST00000367172p.R431Qc.1292G>ASubstitution - Missense
SLC2A1ENSG00000117394ENST00000439722p.?c.394+7G>TUnknown
LCKENSG00000182866ENST00000333070p.T446Ic.1337C>TSubstitution - Missense
IPO4ENSG00000196497ENST00000354464p.L340Lc.1018C>TSubstitution - coding silent
SNRPNENSG00000128739ENST00000444203p.?c.280-10C>AUnknown
ITFG3ENSG00000167930ENST00000442458p.A175Gc.524C>GSubstitution - Missense
SDK2ENSG00000069188ENST00000392650p.R133Cc.397C>TSubstitution - Missense
SLC39A3ENSG00000141873ENST00000455372p.R39Cc.115C>TSubstitution - Missense
DNM2ENSG00000079805ENST00000314646p.P767Lc.2300C>TSubstitution - Missense
DLGAP1ENSG00000170579ENST00000581527p.K641Rc.1922A>GSubstitution - Missense
DLGAP1ENSG00000170579ENST00000581699p.K347Rc.1040A>GSubstitution - Missense
SIGLEC9ENSG00000129450ENST00000440804p.S377Sc.1131G>ASubstitution - coding silent
ZNF382ENSG00000161298ENST00000439428p.S359Pc.1075T>CSubstitution - Missense
FZR1ENSG00000105325ENST00000395095p.P431Ac.1291C>GSubstitution - Missense
PLTPENSG00000100979ENST00000542937p.G487Gc.1461G>ASubstitution - coding silent
KIF16BENSG00000089177ENST00000450176p.V72Vc.216G>ASubstitution - coding silent
SUN2ENSG00000100242ENST00000411587p.A331Vc.992C>TSubstitution - Missense
FLNBENSG00000136068ENST00000357272p.S1737Nc.5210G>ASubstitution - Missense
SHISA5ENSG00000164054ENST00000426002p.R40Hc.119G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.F5251fs*2c.15748_15749insTInsertion - Frameshift
SH3BP2ENSG00000087266ENST00000503393p.T341fs*72c.1020_1035del16Deletion - Frameshift
PKD2L2ENSG00000078795ENST00000508883p.C290Yc.869G>ASubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.T3975Tc.11925G>ASubstitution - coding silent
ENST00000328843_v70p.S1558Lc.4673C>TSubstitution - Missense
PTCD1ENSG00000106246ENST00000555673p.F523Lc.1567T>CSubstitution - Missense
CRB2ENSG00000148204ENST00000359999p.C766Yc.2297G>ASubstitution - Missense
DENND1AENSG00000119522ENST00000373620p.F494Fc.1482T>CSubstitution - coding silent
FAM78AENSG00000126882ENST00000464831p.?c.231-3C>GUnknown
WNK2ENSG00000165238ENST00000395477p.V1784Mc.5350G>ASubstitution - Missense
UNC13BENSG00000198722ENST00000396787p.F1417Sc.4250T>CSubstitution - Missense
CC2D1AENSG00000132024ENST00000318003p.R165Cc.493C>TSubstitution - Missense
HEPHENSG00000089472ENST00000519389p.A777Dc.2330C>ASubstitution - Missense
TAS2R8ENSG00000121314ENST00000240615p.L122Lc.366G>ASubstitution - coding silent
PTPRQENSG00000139304ENST00000266688p.D2081Ec.6243T>GSubstitution - Missense
CD244ENSG00000122223ENST00000368034p.?c.655+8G>CUnknown
EMC1ENSG00000127463ENST00000477853p.?c.637-7T>CUnknown
TMEM132CENSG00000181234ENST00000435159p.E461Dc.1383G>CSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.L1361Lc.4083G>TSubstitution - coding silent
ITGB4ENSG00000132470ENST00000200181p.P1188Lc.3563C>TSubstitution - Missense
DENND1CENSG00000205744ENST00000381480p.T757Mc.2270C>TSubstitution - Missense
BRWD1ENSG00000185658ENST00000333229p.K1915Tc.5744A>CSubstitution - Missense
UNC13BENSG00000198722ENST00000378495p.F1405Sc.4214T>CSubstitution - Missense
ENST00000242299p.C63*c.189C>ASubstitution - Nonsense
TPD52L3ENSG00000170777ENST00000344545p.A138Gc.413C>GSubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.A372Sc.1114G>TSubstitution - Missense
PHKBENSG00000102893ENST00000323584p.?c.3003+4A>GUnknown
CCDC102AENSG00000135736ENST00000258214p.?c.1420-7C>TUnknown
HM13ENSG00000101294ENST00000340852p.M1Kc.2T>ASubstitution - Missense
KIAA0226ENSG00000145016ENST00000296343p.H705Yc.2113C>TSubstitution - Missense
LAMA5ENSG00000130702ENST00000252999p.A2830Tc.8488G>ASubstitution - Missense
SRCAPENSG00000080603ENST00000262518p.P1879fs*21c.5633_5634insCInsertion - Frameshift
MUC3AENSG00000169894ENST00000319509p.L305Fc.913C>TSubstitution - Missense
GFAPENSG00000131095ENST00000435360p.R413*c.1237C>TSubstitution - Nonsense
BRCA1ENSG00000012048ENST00000357654p.L1780Lc.5340G>TSubstitution - coding silent
TEX14ENSG00000121101ENST00000349033p.T810Nc.2429C>ASubstitution - Missense
SIPA1L3ENSG00000105738ENST00000222345p.?c.1854+8A>CUnknown
CCDC39ENSG00000145075ENST00000273654p.S537Rc.1611C>ASubstitution - Missense
AGTPBP1ENSG00000135049ENST00000376083p.?c.3384-4G>AUnknown
ECM2ENSG00000106823ENST00000344604p.S85Ic.254G>TSubstitution - Missense
ECM2ENSG00000106823ENST00000444490p.S85Ic.254G>TSubstitution - Missense
SEMA4DENSG00000187764ENST00000450295p.A515Vc.1544C>TSubstitution - Missense
CYP2F1ENSG00000197446ENST00000331105p.R187Hc.560G>ASubstitution - Missense
ADCK4ENSG00000123815ENST00000324464p.D341Yc.1021G>TSubstitution - Missense
ADCK4ENSG00000123815ENST00000324464p.D341Yc.1021G>TSubstitution - Missense
SHKBP1ENSG00000160410ENST00000291842p.R142Wc.424C>TSubstitution - Missense
ZNF780BENSG00000128000ENST00000434248p.F790Fc.2370T>CSubstitution - coding silent
DPY19L1ENSG00000173852ENST00000310974p.L404Lc.1212G>ASubstitution - coding silent
PKD2L2ENSG00000078795ENST00000290431p.C290Yc.869G>ASubstitution - Missense
NSDHLENSG00000147383ENST00000370274p.K38Rc.113A>GSubstitution - Missense
TCOF1ENSG00000070814ENST00000323668p.K1385Rc.4154A>GSubstitution - Missense
HLA-GENSG00000204632ENST00000360323p.L17Lc.51G>ASubstitution - coding silent
IFRD1ENSG00000006652ENST00000005558p.I300Mc.900A>GSubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.P511Pc.1533A>TSubstitution - coding silent
KCND2ENSG00000184408ENST00000331113p.C236Cc.708C>TSubstitution - coding silent
FOXP2ENSG00000128573ENST00000408937p.G98Dc.293G>ASubstitution - Missense
ENST00000309900p.?c.1068-7T>CUnknown
ENST00000316490p.?c.8250-7T>CUnknown
WDR90ENSG00000161996ENST00000293879p.R602Wc.1804C>TSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.G3517_G3518insSGGGGc.10547_10548ins15Insertion - In frame
USP31ENSG00000103404ENST00000219689p.D243Dc.729C>TSubstitution - coding silent
RFX1ENSG00000132005ENST00000254325p.L722Lc.2166C>GSubstitution - coding silent
ZNF234ENSG00000263002ENST00000426739p.H671Dc.2011C>GSubstitution - Missense
SEMG1ENSG00000124233ENST00000372781p.L298Ic.892C>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.N1892Sc.5675A>GSubstitution - Missense
NEBENSG00000183091ENST00000409198p.N1892Sc.5675A>GSubstitution - Missense
NEBENSG00000183091ENST00000427231p.S7945Sc.23835G>ASubstitution - coding silent
NEBENSG00000183091ENST00000397345p.S7945Sc.23835G>ASubstitution - coding silent
MBD5ENSG00000204406ENST00000407073p.K647Mc.1940A>TSubstitution - Missense
CD302ENSG00000241399ENST00000259053p.I30Tc.89T>CSubstitution - Missense
TANC1ENSG00000115183ENST00000263635p.A1048Ac.3144G>ASubstitution - coding silent
CYTIPENSG00000115165ENST00000264192p.S269Pc.805T>CSubstitution - Missense
ZNF280AENSG00000169548ENST00000302097p.M383Ic.1149G>ASubstitution - Missense
G6PC2ENSG00000152254ENST00000375363p.S203Rc.609T>ASubstitution - Missense
SCN2AENSG00000136531ENST00000375427p.?c.697+1G>CUnknown
DPP4ENSG00000197635ENST00000360534p.R669Cc.2005C>TSubstitution - Missense
RNF139ENSG00000170881ENST00000303545p.D593Nc.1777G>ASubstitution - Missense
AKNAENSG00000106948ENST00000307564p.I1042Ic.3126C>ASubstitution - coding silent
DENND1AENSG00000119522ENST00000394219p.F462Fc.1386T>CSubstitution - coding silent
DENND1AENSG00000119522ENST00000373618p.F462Fc.1386T>CSubstitution - coding silent
CRB2ENSG00000148204ENST00000373631p.G255Gc.765C>TSubstitution - coding silent
NTMT1ENSG00000148335ENST00000372480p.A147Ac.441C>TSubstitution - coding silent
FPGSENSG00000136877ENST00000373247p.?c.1212-5C>GUnknown
ST6GAL1ENSG00000073849ENST00000169298p.R285Lc.854G>TSubstitution - Missense
DGKGENSG00000058866ENST00000265022p.V697Ic.2089G>ASubstitution - Missense
FAM78AENSG00000126882ENST00000372271p.?c.324-3C>GUnknown
LAMC3ENSG00000050555ENST00000361069p.R1102Hc.3305G>ASubstitution - Missense
ENST00000330241p.*235Rc.703T>CNonstop extension
LCP2ENSG00000043462ENST00000046794p.P288Qc.863C>ASubstitution - Missense
NM_018248.1p.R517Qc.1550G>ASubstitution - Missense
C4AENSG00000244731ENST00000428956p.A891Ac.2673G>ASubstitution - coding silent
C4AENSG00000244731ENST00000428956p.A891Ac.2673G>ASubstitution - coding silent
C2ENSG00000166278ENST00000299367p.F95Vc.283T>GSubstitution - Missense
KIAA0947ENSG00000164151ENST00000296564p.P341Ac.1021C>GSubstitution - Missense
KIAA0947ENSG00000164151ENST00000296564p.P341Ac.1021C>GSubstitution - Missense
KIAA0226ENSG00000145016ENST00000389665p.H730Yc.2188C>TSubstitution - Missense
TINAGENSG00000137251ENST00000259782p.M369Tc.1106T>CSubstitution - Missense
ENST00000284020p.Q309Rc.926A>GSubstitution - Missense
ZNF773ENSG00000152439ENST00000282292p.Q322Rc.965A>GSubstitution - Missense
ZSCAN5BENSG00000197213ENST00000358992p.P438Pc.1314G>ASubstitution - coding silent
BUB1ENSG00000169679ENST00000302759p.S437Sc.1311T>ASubstitution - coding silent
RGPD3ENSG00000153165ENST00000409886p.S1456Sc.4368G>TSubstitution - coding silent
RGPD3ENSG00000153165ENST00000409886p.S1456Sc.4368G>TSubstitution - coding silent
TRANK1ENSG00000168016ENST00000429976p.A2123Ac.6369C>TSubstitution - coding silent
TRANK1ENSG00000168016ENST00000428977p.A1573Ac.4719C>TSubstitution - coding silent
MYRIPENSG00000170011ENST00000302541p.E486Ac.1457A>CSubstitution - Missense
TSNAXIP1ENSG00000102904ENST00000388833p.*659fs?c.1977delGDeletion - Frameshift
ANK2ENSG00000145362ENST00000357077p.E3544Qc.10630G>CSubstitution - Missense
GRM6ENSG00000113262ENST00000231188p.V304Vc.912C>TSubstitution - coding silent
ZC3H12DENSG00000178199ENST00000389942p.E189Ec.567G>ASubstitution - coding silent
GPR126ENSG00000112414ENST00000296932p.V151Mc.451G>ASubstitution - Missense
RMND1ENSG00000155906ENST00000367303p.T225Ic.674C>TSubstitution - Missense
AMZ1ENSG00000174945ENST00000312371p.G218Gc.654G>ASubstitution - coding silent
DNAH11ENSG00000105877ENST00000328843p.S1558Lc.4673C>TSubstitution - Missense
IKBKGENSG00000073009ENST00000369607p.L61Lc.183C>GSubstitution - coding silent
ACKR3ENSG00000144476ENST00000272928p.A229Tc.685G>ASubstitution - Missense
KIAA1841ENSG00000162929ENST00000402291p.R698Hc.2093G>ASubstitution - Missense
NM_053025p.P443Tc.1327C>ASubstitution - Missense
COPG1ENSG00000181789ENST00000314797p.R649Cc.1945C>TSubstitution - Missense
SCO2ENSG00000130489ENST00000395693p.T192Tc.576C>TSubstitution - coding silent
SCO2ENSG00000130489ENST00000543927p.T192Tc.576C>TSubstitution - coding silent
ZNF501ENSG00000186446ENST00000396048p.K188Nc.564G>TSubstitution - Missense
SLC26A6ENSG00000225697ENST00000395550p.A443Ac.1329G>ASubstitution - coding silent
PLXNB1ENSG00000164050ENST00000296440p.V1703Ic.5107G>ASubstitution - Missense
MAP4ENSG00000047849ENST00000360240p.T1088Tc.3264T>CSubstitution - coding silent
SLC26A5ENSG00000170615ENST00000306312p.I621Mc.1863C>GSubstitution - Missense
SLC26A5ENSG00000170615ENST00000339444p.I621Mc.1863C>GSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.F5108fs*2c.15319_15320insTInsertion - Frameshift
MUC12ENSG00000205277ENST00000536621p.A339Pc.1015G>CSubstitution - Missense
ENST00000319509_v65p.L305Fc.913C>TSubstitution - Missense
TPST1ENSG00000169902ENST00000304842p.G150Ac.449G>CSubstitution - Missense
ERV3-1ENSG00000213462ENST00000394323p.A413Ec.1238C>ASubstitution - Missense
FREM1ENSG00000164946ENST00000422223p.A958Ac.2874C>TSubstitution - coding silent
NM_138737.1p.A723Dc.2168C>ASubstitution - Missense
MLLT3ENSG00000171843ENST00000380338p.?c.420+1G>CUnknown
DBPENSG00000105516ENST00000222122p.?c.551-4C>TUnknown
RPL18ENSG00000063177ENST00000549920p.G117Gc.351G>ASubstitution - coding silent
TICAM1ENSG00000127666ENST00000248244p.Q588Pc.1763A>CSubstitution - Missense
FBRSENSG00000156860ENST00000356166p.A214Vc.641C>TSubstitution - Missense
MAML3ENSG00000196782ENST00000509479p.G449Dc.1346G>ASubstitution - Missense
MAML3ENSG00000196782ENST00000509479p.G449Dc.1346G>ASubstitution - Missense
TMEM43ENSG00000170876ENST00000306077p.V89Mc.265G>ASubstitution - Missense
DCHS2ENSG00000197410ENST00000339452p.P769Pc.2307T>CSubstitution - coding silent
APOL6ENSG00000221963ENST00000409652p.D248Yc.742G>TSubstitution - Missense
RAVER1ENSG00000161847ENST00000293677p.G610Gc.1830A>TSubstitution - coding silent
RAVER1ENSG00000161847ENST00000293677p.G593Gc.1779A>TSubstitution - coding silent
MIEF1ENSG00000100335ENST00000325301p.T265Sc.793A>TSubstitution - Missense
FAM227AENSG00000184949ENST00000355830p.M152Ic.456G>ASubstitution - Missense
SUN2ENSG00000100242ENST00000405510p.A342Vc.1025C>TSubstitution - Missense
TRIOBPENSG00000100106ENST00000406386p.L939Lc.2817C>TSubstitution - coding silent
CDC42EP1ENSG00000128283ENST00000249014p.L133Lc.399C>TSubstitution - coding silent
HSDL2ENSG00000119471ENST00000398805p.K116Ec.346A>GSubstitution - Missense
C9orf147ENSG00000230185ENST00000457681p.E144Qc.430G>CSubstitution - Missense
OR2K2ENSG00000171133ENST00000302681p.L225Pc.674T>CSubstitution - Missense
OR13C8ENSG00000186943ENST00000335040p.I276fs*11c.826delADeletion - Frameshift
SGK1ENSG00000118515ENST00000528577p.?c.1213-6T>AUnknown
SGK1ENSG00000118515ENST00000413996p.?c.1171-6T>AUnknown
SGK1ENSG00000118515ENST00000237305p.?c.1129-6T>AUnknown
SGK1ENSG00000118515ENST00000367857p.?c.1099-6T>AUnknown
RHOT1ENSG00000126858ENST00000358365p.C147Fc.440G>TSubstitution - Missense
CA10ENSG00000154975ENST00000285273p.?c.465+3A>GUnknown
ENST00000357979p.N373Nc.1119C>TSubstitution - coding silent
ASAP2ENSG00000151693ENST00000281419p.L641Lc.1921C>TSubstitution - coding silent
ADRA2BENSG00000222040ENST00000409345p.P146Pc.438G>ASubstitution - coding silent
ODAMENSG00000109205ENST00000396094p.S245Tc.733T>ASubstitution - Missense
ODAMENSG00000109205ENST00000396094p.S245*c.734C>ASubstitution - Nonsense
SETD5ENSG00000168137ENST00000402198p.H1113Rc.3338A>GSubstitution - Missense
SETD5ENSG00000168137ENST00000302463p.H1015Rc.3044A>GSubstitution - Missense
BRD7ENSG00000166164ENST00000394688p.F246Fc.738C>TSubstitution - coding silent
PHKBENSG00000102893ENST00000566044p.?c.2982+4A>GUnknown
USP25ENSG00000155313ENST00000400183p.A718Vc.2153C>TSubstitution - Missense
ENST00000251648p.S93Yc.278C>ASubstitution - Missense
FRYLENSG00000075539ENST00000503238p.A1692Gc.5075C>GSubstitution - Missense
SLC17A4ENSG00000146039ENST00000377905p.P5Lc.14C>TSubstitution - Missense
AKR1B15ENSG00000227471ENST00000457545p.D178Dc.534C>TSubstitution - coding silent
ENST00000418096p.D196Dc.588C>TSubstitution - coding silent
MGAMENSG00000257335ENST00000549489p.T914Tc.2742A>GSubstitution - coding silent
TAS2R3ENSG00000127362ENST00000247879p.W121Cc.363G>CSubstitution - Missense
PTCD1ENSG00000106246ENST00000292478p.F474Lc.1420T>CSubstitution - Missense
TRRAPENSG00000196367ENST00000355540p.L2112Lc.6334C>TSubstitution - coding silent
NPTX2ENSG00000106236ENST00000265634p.I289Ic.867C>ASubstitution - coding silent
PPP1R9AENSG00000158528ENST00000433360p.?c.1890+3C>TUnknown
TOP1MTENSG00000184428ENST00000329245p.?c.1215+5G>AUnknown
CYP11B1ENSG00000160882ENST00000292427p.N269Kc.807C>GSubstitution - Missense
CYP11B1ENSG00000160882ENST00000292427p.?c.395+1G>AUnknown
LRRCC1ENSG00000133739ENST00000360375p.H971Yc.2911C>TSubstitution - Missense
PIEZO2ENSG00000154864ENST00000302079p.?c.1240-6C>TUnknown
CST5ENSG00000170367ENST00000304710p.G21Rc.61G>CSubstitution - Missense
NLRP2ENSG00000022556ENST00000543010p.I403Ic.1209C>TSubstitution - coding silent
MIB1ENSG00000101752ENST00000261537p.R174Hc.521G>ASubstitution - Missense
EFCAB8ENSG00000215529ENST00000457731p.?c.139-7C>TUnknown
CECR2ENSG00000099954ENST00000400585p.N1033Nc.3099C>TSubstitution - coding silent
PCNTENSG00000160299ENST00000359568p.S3093Sc.9279G>ASubstitution - coding silent
HOXD1ENSG00000128645ENST00000331462p.A226Pc.676G>CSubstitution - Missense
ENST00000375170p.R209Pc.626G>CSubstitution - Missense
ENST00000541862p.P449Sc.1345C>TSubstitution - Missense
TMEM131ENSG00000075568ENST00000186436p.A1338Ac.4014G>ASubstitution - coding silent
NIT2ENSG00000114021ENST00000394140p.R5Pc.14G>CSubstitution - Missense
NLRC3ENSG00000167984ENST00000301749p.A975Ac.2925C>GSubstitution - coding silent
PHKBENSG00000102893ENST00000323584p.L391fs*21c.1171_1181del11Deletion - Frameshift
PHKBENSG00000102893ENST00000323584p.L391fs*21c.1171_1181del11Deletion - Frameshift
PHKBENSG00000102893ENST00000566044p.L384fs*21c.1150_1160del11Deletion - Frameshift
PTPRSENSG00000105426ENST00000357368p.A994Tc.2980G>ASubstitution - Missense
MYH2ENSG00000125414ENST00000245503p.A1553Ac.4659A>GSubstitution - coding silent
C16orf72ENSG00000182831ENST00000327827p.Q121*c.361C>TSubstitution - Nonsense
ENSG00000258947ENST00000315491p.S365Sc.1095C>TSubstitution - coding silent
SAMD10ENSG00000130590ENST00000450107p.Q36Rc.107A>GSubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.E987Kc.2959G>ASubstitution - Missense
SLC17A9ENSG00000101194ENST00000370351p.E90Ac.269A>CSubstitution - Missense
MYO18BENSG00000133454ENST00000335473p.T1267Ac.3799A>GSubstitution - Missense
FBXO7ENSG00000100225ENST00000266087p.?c.123-10T>GUnknown
ENST00000405167p.G3900Dc.11699G>ASubstitution - Missense
TOP2BENSG00000077097ENST00000435706p.G1596Ac.4787G>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.H1005Hc.3015C>TSubstitution - coding silent
LAMTOR3ENSG00000109270ENST00000499666p.Q82Qc.246A>GSubstitution - coding silent
PRDM8ENSG00000152784ENST00000339711p.R118Gc.352C>GSubstitution - Missense
UBXN8ENSG00000104691ENST00000265616p.S61*c.182C>GSubstitution - Nonsense
GPR78ENSG00000155269ENST00000382487p.L58Lc.174G>ASubstitution - coding silent
STARENSG00000147465ENST00000276449p.R274Cc.820C>TSubstitution - Missense
UBA1ENSG00000130985ENST00000377351p.T668Ic.2003C>TSubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.V118fs*40c.348_349insTTCCInsertion - Frameshift
FAM47CENSG00000198173ENST00000358047p.V118fs*40c.348_349insTTCCInsertion - Frameshift
XM_098980.6p.G589Gc.1767A>GSubstitution - coding silent
ZSCAN5BENSG00000197213ENST00000358992p.P438Pc.1314G>ASubstitution - coding silent
ZNF419ENSG00000105136ENST00000347466p.Q302Rc.905A>GSubstitution - Missense
NFASCENSG00000163531ENST00000339876p.R431Qc.1292G>ASubstitution - Missense
PDE4DIPENSG00000178104ENST00000369348p.S116Gc.346A>GSubstitution - Missense
OR2M3ENSG00000228198ENST00000456743p.S167Sc.501C>ASubstitution - coding silent
YTHDF2ENSG00000198492ENST00000373812p.R577Hc.1730G>ASubstitution - Missense
RPS6KA1ENSG00000117676ENST00000374168p.S26Lc.77C>TSubstitution - Missense
IL23RENSG00000162594ENST00000347310p.D129Ec.387T>ASubstitution - Missense
TNFRSF25ENSG00000215788ENST00000377782p.R91Hc.272G>ASubstitution - Missense
COL24A1ENSG00000171502ENST00000370571p.?c.3301-6T>CUnknown
GTF2A1ENSG00000165417ENST00000553612p.E282Kc.844G>ASubstitution - Missense
FAM181AENSG00000140067ENST00000267594p.S134Tc.400T>ASubstitution - Missense
GOLGA5ENSG00000066455ENST00000163416p.S638Sc.1914G>CSubstitution - coding silent
TC2NENSG00000165929ENST00000340892p.E149Dc.447A>CSubstitution - Missense
CA12ENSG00000074410ENST00000178638p.?c.106+6T>GUnknown
EVI5ENSG00000067208ENST00000370331p.S29Cc.86C>GSubstitution - Missense
H6PDENSG00000049239ENST00000377403p.T699Ic.2096C>TSubstitution - Missense
FMN1ENSG00000248905ENST00000334528p.A98Vc.293C>TSubstitution - Missense
PLCG2ENSG00000197943ENST00000359376p.I161Ic.483C>TSubstitution - coding silent
PLCG2ENSG00000197943ENST00000359376p.I161Ic.483C>TSubstitution - coding silent
ADAMTS18ENSG00000140873ENST00000282849p.K961Ec.2881A>GSubstitution - Missense
ITGA3ENSG00000005884ENST00000320031p.P681Pc.2043C>TSubstitution - coding silent
KIF16BENSG00000089177ENST00000408042p.E638Kc.1912G>ASubstitution - Missense
RALGAPA2ENSG00000188559ENST00000202677p.R1460fs*2c.4377delGDeletion - Frameshift
RALGAPA2ENSG00000188559ENST00000202677p.R1460fs*2c.4377delGDeletion - Frameshift
CHD7ENSG00000171316ENST00000423902p.P30Pc.90G>ASubstitution - coding silent
LRRC8EENSG00000171017ENST00000306708p.A746Tc.2236G>ASubstitution - Missense
DENND1CENSG00000205744ENST00000381480p.T731Mc.2192C>TSubstitution - Missense
GPC4ENSG00000076716ENST00000370828p.K192Nc.576G>CSubstitution - Missense
ENST00000331986p.P7173Lc.21518C>TSubstitution - Missense
COL4A6ENSG00000197565ENST00000334504p.S357*c.1070C>GSubstitution - Nonsense
COL4A6ENSG00000197565ENST00000394872p.S358*c.1073C>GSubstitution - Nonsense
OTTHUMT00000057774.1p.R27Gc.79A>GSubstitution - Missense
H2BFWTENSG00000123569ENST00000217926p.T36Tc.108G>ASubstitution - coding silent
NUTM2GENSG00000188152ENST00000372322p.P346Pc.1038C>GSubstitution - coding silent
NUTM2GENSG00000188152ENST00000354649p.P346Pc.1038C>GSubstitution - coding silent
CCDC144AENSG00000170160ENST00000456009p.T863Tc.2589G>ASubstitution - coding silent
MGAT5BENSG00000167889ENST00000301618p.R376Wc.1126C>TSubstitution - Missense
TNFSF12ENSG00000239697ENST00000293825p.R208Rc.624C>ASubstitution - coding silent
TOM1L2ENSG00000175662ENST00000379504p.?c.1203-9C>TUnknown
TMC8ENSG00000167895ENST00000318430p.P160Pc.480G>ASubstitution - coding silent
TNRC6CENSG00000078687ENST00000301624p.F1543Fc.4629C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.Q52>P*c.154_155insCATComplex - insertion inframe
SLC7A9ENSG00000021488ENST00000023064p.A76Ac.228G>ASubstitution - coding silent
SLC39A3ENSG00000141873ENST00000269740p.R39Cc.115C>TSubstitution - Missense
POLD1ENSG00000062822ENST00000440232p.A221Ac.663C>ASubstitution - coding silent
POLD1ENSG00000062822ENST00000440232p.A221Ac.663C>ASubstitution - coding silent
ITCHENSG00000078747ENST00000374864p.Y839*c.2517C>GSubstitution - Nonsense
SIGLEC9ENSG00000129450ENST00000250360p.S377Sc.1131G>ASubstitution - coding silent
CD33ENSG00000105383ENST00000262262p.S195Sc.585G>ASubstitution - coding silent
OPN1SWENSG00000128617ENST00000249389p.L128Lc.384G>ASubstitution - coding silent
OR2S2ENSG00000122718ENST00000341959p.C73*c.219C>ASubstitution - Nonsense
PDCD1LG2ENSG00000197646ENST00000397747p.A162Ac.486C>TSubstitution - coding silent
FLNBENSG00000136068ENST00000490882p.S1768Nc.5303G>ASubstitution - Missense
FLNBENSG00000136068ENST00000295956p.S1737Nc.5210G>ASubstitution - Missense
AF381545.1p.S115Sc.345A>CSubstitution - coding silent
MARCH10ENSG00000173838ENST00000311269p.Q53Kc.157C>ASubstitution - Missense
MAP2K3ENSG00000034152ENST00000316920p.T337Mc.1010C>TSubstitution - Missense
GOSR1ENSG00000108587ENST00000225724p.S151Gc.451A>GSubstitution - Missense
MYO18AENSG00000196535ENST00000527372p.?c.5898-5T>CUnknown
FASNENSG00000169710ENST00000306749p.I1113Vc.3337A>GSubstitution - Missense
OSBPL1AENSG00000141447ENST00000319481p.R620Wc.1858C>TSubstitution - Missense
DNM2ENSG00000079805ENST00000389253p.P767Lc.2300C>TSubstitution - Missense
DLGAP1ENSG00000170579ENST00000315677p.K641Rc.1922A>GSubstitution - Missense
BRWD1ENSG00000185658ENST00000333229p.S1505Fc.4514C>TSubstitution - Missense
BRWD1ENSG00000185658ENST00000342449p.S1505Fc.4514C>TSubstitution - Missense
CMTM5ENSG00000166091ENST00000339180p.L2Ic.4C>ASubstitution - Missense
ACIN1ENSG00000100813ENST00000262710p.R327Sc.981A>TSubstitution - Missense
MS4A1ENSG00000156738ENST00000389939p.T41Tc.123G>ASubstitution - coding silent
OR52L1ENSG00000183313ENST00000332249p.R281Hc.842G>ASubstitution - Missense
PPFIA1ENSG00000131626ENST00000253925p.E659Qc.1975G>CSubstitution - Missense
OR10A2ENSG00000170790ENST00000307322p.F92Fc.276C>TSubstitution - coding silent
VEZTENSG00000028203ENST00000436874p.E44Ec.132G>ASubstitution - coding silent
NR2C1ENSG00000120798ENST00000330677p.M242Vc.724A>GSubstitution - Missense
FGD6ENSG00000180263ENST00000343958p.Y524Yc.1572T>CSubstitution - coding silent
PZPENSG00000126838ENST00000261336p.L1163Qc.3488T>ASubstitution - Missense
ANO4ENSG00000151572ENST00000392979p.V102Ic.304G>ASubstitution - Missense
ANO4ENSG00000151572ENST00000538618p.V303Ic.907G>ASubstitution - Missense
SORCS1ENSG00000108018ENST00000263054p.E204Gc.611A>GSubstitution - Missense
CNTN1ENSG00000018236ENST00000551295p.P271Pc.813G>ASubstitution - coding silent
SOHLH2ENSG00000120669ENST00000379881p.H96Hc.288T>CSubstitution - coding silent
PADI1ENSG00000142623ENST00000375471p.P3Ac.7C>GSubstitution - Missense
F5ENSG00000198734ENST00000367797p.D457fs*15c.1368delADeletion - Frameshift
SLC19A2ENSG00000117479ENST00000236137p.P265Sc.793C>TSubstitution - Missense
LCKENSG00000182866ENST00000373564p.T423Ic.1268C>TSubstitution - Missense
TSSK3ENSG00000162526ENST00000373534p.S29fs*11c.81_82insTInsertion - Frameshift
SNRPNENSG00000128739ENST00000400100p.?c.268-10C>AUnknown
ITLN1ENSG00000179914ENST00000326245p.E305Kc.913G>ASubstitution - Missense
PIK3C2AENSG00000011405ENST00000265970p.S771fs*6c.2311_2312delAGDeletion - Frameshift
KRTAP5-1ENSG00000205869ENST00000382171p.S71Sc.213T>CSubstitution - coding silent
B4GALNT3ENSG00000139044ENST00000266383p.F928Fc.2784C>TSubstitution - coding silent
NM_182530.1p.R81Rc.243G>TSubstitution - coding silent
NXPE4ENSG00000137634ENST00000375478p.H460Rc.1379A>GSubstitution - Missense
PAMR1ENSG00000149090ENST00000278360p.R514Hc.1541G>ASubstitution - Missense
ELP4ENSG00000109911ENST00000350638p.K226Ec.676A>GSubstitution - Missense
ELP4ENSG00000109911ENST00000395934p.K226Ec.676A>GSubstitution - Missense
ALX3ENSG00000156150ENST00000369792p.P138Lc.413C>TSubstitution - Missense
GNAI3ENSG00000065135ENST00000369851p.?c.162-7T>CUnknown
PIAS3ENSG00000131788ENST00000393045p.L37Lc.111C>TSubstitution - coding silent
NBPF10ENSG00000163386ENST00000342960p.?c.1802-4G>TUnknown
MTORENSG00000198793ENST00000361445p.A1134Vc.3401C>TSubstitution - Missense
ADORA3ENSG00000121933ENST00000241356p.Y222Hc.664T>CSubstitution - Missense
PTX4ENSG00000251692ENST00000293922p.N62Ic.185A>TSubstitution - Missense
ACOT2ENSG00000119673ENST00000238651p.G287Ec.860G>ASubstitution - Missense
ARG2ENSG00000081181ENST00000261783p.D200Dc.600C>TSubstitution - coding silent
NUDT22ENSG00000149761ENST00000279206p.P76Pc.228A>CSubstitution - coding silent
VEGFBENSG00000173511ENST00000309422p.T57Tc.171T>CSubstitution - coding silent
PACS1ENSG00000175115ENST00000320580p.?c.1838+10C>TUnknown
ZNHIT2ENSG00000174276ENST00000310597p.P190Rc.569C>GSubstitution - Missense
C1orf50ENSG00000164008ENST00000372525p.?c.196-4G>AUnknown
SLC2A1ENSG00000117394ENST00000426263p.?c.679+7G>TUnknown
RNF220ENSG00000187147ENST00000361799p.S156Lc.467C>TSubstitution - Missense
AMPD1ENSG00000116748ENST00000520113p.R480Rc.1440C>TSubstitution - coding silent
HIPK1ENSG00000163349ENST00000369558p.F648Lc.1944C>GSubstitution - Missense
NM_152696p.F648Lc.1944C>GSubstitution - Missense
PTPN22ENSG00000134242ENST00000359785p.R458Tc.1373G>CSubstitution - Missense
GCN1L1ENSG00000089154ENST00000300648p.?c.3088-5C>TUnknown
IGSF3ENSG00000143061ENST00000369483p.R476Hc.1427G>ASubstitution - Missense
IGSF3ENSG00000143061ENST00000369486p.R456Hc.1367G>ASubstitution - Missense
TCHHENSG00000159450ENST00000368804p.E132delEc.394_396delGAADeletion - In frame
NBPF20ENSG00000203832ENST00000369202p.D65Nc.193G>ASubstitution - Missense
XCL1ENSG00000143184ENST00000367818p.T37Tc.111C>GSubstitution - coding silent
ILDR2ENSG00000143195ENST00000271417p.P388Pc.1164C>ASubstitution - coding silent
ARHGAP5ENSG00000100852ENST00000345122p.L1355Lc.4063T>CSubstitution - coding silent
HEATR5AENSG00000129493ENST00000389961p.M1187Tc.3560T>CSubstitution - Missense
DNM1LENSG00000087470ENST00000549701p.?c.1597-4_1597-3insTAUnknown
TSPAN11ENSG00000110900ENST00000261177p.A67Ac.201G>ASubstitution - coding silent
ENST00000322367p.C770*c.2310C>ASubstitution - Nonsense
FLGENSG00000143631ENST00000368799p.R1133Wc.3397C>TSubstitution - Missense
NAV1ENSG00000134369ENST00000367296p.L881Lc.2643G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.Q52>P*c.154_155insCATComplex - insertion inframe
WNT10BENSG00000169884ENST00000301061p.R236Cc.706C>TSubstitution - Missense
RHOAENSG00000067560ENST00000418115p.E40Qc.118G>CSubstitution - Missense
ENSG00000091436ENST00000409176p.H651Rc.1952A>GSubstitution - Missense
TOMM70AENSG00000154174ENST00000284320p.R366*c.1096C>TSubstitution - Nonsense
KIAA1109ENSG00000138688ENST00000264501p.F490Fc.1470C>TSubstitution - coding silent
FAM151AENSG00000162391ENST00000302250p.T222Tc.666G>ASubstitution - coding silent
AMER3ENSG00000178171ENST00000321420p.R341Wc.1021C>TSubstitution - Missense
SYT14ENSG00000143469ENST00000472886p.R344Wc.1030C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.R490Wc.1468C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000313431p.R653Wc.1957C>TSubstitution - Missense
ENST00000221204p.L266Lc.798G>ASubstitution - coding silent
ZNF479ENSG00000185177ENST00000331162p.R317Kc.950G>ASubstitution - Missense
SDK1ENSG00000146555ENST00000404826p.R140Cc.418C>TSubstitution - Missense
WNK2ENSG00000165238ENST00000297954p.V1821Mc.5461G>ASubstitution - Missense
SU_WNK2p.V1769Mc.5305G>ASubstitution - Missense
MCF2LENSG00000126217ENST00000375604p.F264Fc.792C>TSubstitution - coding silent
XAB2ENSG00000076924ENST00000358368p.A802Tc.2404G>ASubstitution - Missense
SHISA5ENSG00000164054ENST00000296444p.R143Hc.428G>ASubstitution - Missense
GPR139ENSG00000180269ENST00000570682p.L69Lc.207C>TSubstitution - coding silent
MYEOVENSG00000172927ENST00000308946p.W272fs*>42c.807delGDeletion - Frameshift
EPPK1ENSG00000227184ENST00000525985p.G285Sc.853G>ASubstitution - Missense
DNMT3AENSG00000119772ENST00000321117p.D781Hc.2341G>CSubstitution - Missense
DNMT3AENSG00000119772ENST00000380746p.D592Hc.1774G>CSubstitution - Missense
DCAF8ENSG00000132716ENST00000326837p.R204Hc.611G>ASubstitution - Missense
ENST00000251757p.Q389*c.1165C>TSubstitution - Nonsense
KCNJ12ENSG00000184185ENST00000331718p.A230Ac.690G>ASubstitution - coding silent
CR1LENSG00000197721ENST00000508064p.P10Pc.30C>GSubstitution - coding silent
USH2AENSG00000042781ENST00000307340p.S2389Sc.7167C>TSubstitution - coding silent
ESPL1ENSG00000135476ENST00000257934p.Q724Ec.2170C>GSubstitution - Missense
KRT18ENSG00000111057ENST00000388835p.?c.415_418-4del737Unknown
KRT18ENSG00000111057ENST00000388835p.?c.656_658-3del574Unknown
KRT18ENSG00000111057ENST00000388835p.?c.819_823-5del85Unknown
TSC22D1ENSG00000102804ENST00000458659p.S589Sc.1767A>GSubstitution - coding silent
TSC22D1ENSG00000102804ENST00000458659p.S542Sc.1626A>GSubstitution - coding silent
DGKHENSG00000102780ENST00000337343p.I617Vc.1849A>GSubstitution - Missense
CSPG4ENSG00000173546ENST00000308508p.G1195Gc.3585G>ASubstitution - coding silent
NM_152442.2p.H236Hc.708C>TSubstitution - coding silent
PRDM4ENSG00000110851ENST00000228437p.H462Yc.1384C>TSubstitution - Missense
RAD9BENSG00000151164ENST00000392672p.H394Hc.1182C>TSubstitution - coding silent
SUSD4ENSG00000143502ENST00000343846p.P411Pc.1233C>TSubstitution - coding silent
MIA3ENSG00000154305ENST00000344922p.A1133Tc.3397G>ASubstitution - Missense
SLIT1ENSG00000187122ENST00000266058p.S1408Lc.4223C>TSubstitution - Missense
STT3AENSG00000134910ENST00000392708p.F118Fc.354C>TSubstitution - coding silent
ENST00000368148p.D1350Dc.4050C>TSubstitution - coding silent
SIPA1L2ENSG00000116991ENST00000366630p.R462Kc.1385G>ASubstitution - Missense
ENST00000366638p.A867Vc.2600C>TSubstitution - Missense
SU_OBSCN.1p.I6485Ic.19455C>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.I5903Ic.17709C>TSubstitution - coding silent
SLC35F3ENSG00000183780ENST00000366618p.N234Nc.702C>TSubstitution - coding silent
SLCO1B1ENSG00000134538ENST00000256958p.N460Kc.1380C>ASubstitution - Missense
ASIC1ENSG00000110881ENST00000228468p.V379Vc.1137C>ASubstitution - coding silent
TMBIM6ENSG00000139644ENST00000267115p.F218Fc.654C>TSubstitution - coding silent
FAM86C1ENSG00000158483ENST00000359244p.?c.411+3G>CUnknown
FAM86C1ENSG00000158483ENST00000346333p.?c.309+3G>CUnknown
MYO7AENSG00000137474ENST00000409709p.A1286Ac.3858G>ASubstitution - coding silent
ARAP1ENSG00000186635ENST00000393609p.P252Sc.754C>TSubstitution - Missense
METTL10ENSG00000203791ENST00000368836p.E198Kc.592G>ASubstitution - Missense
CEP170BENSG00000099814ENST00000414716p.K968Qc.2902A>CSubstitution - Missense
CEP170BENSG00000099814ENST00000556508p.K898Qc.2692A>CSubstitution - Missense
AKT1ENSG00000142208ENST00000349310p.I75Mc.225C>GSubstitution - Missense
ENST00000368577p.D444Dc.1332C>TSubstitution - coding silent
TTC40ENSG00000171811ENST00000368582p.E964Ec.2892G>ASubstitution - coding silent
RNASE6ENSG00000169413ENST00000304677p.P6Lc.17C>TSubstitution - Missense


COSMIC

0 mutations reported
0 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID