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Cell Line Overview
Mutations
Copy Number Variation
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RNAi
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ES1 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

449 mutations reported
144 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
MUC4ENSG00000145113ENST00000463781p.S3864Ac.11590T>GSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
EXOSC2ENSG00000130713ENST00000372358p.T208Tc.624A>CSubstitution - coding silent
DDOSTENSG00000244038ENST00000375048p.A320Vc.959C>TSubstitution - Missense
ENST00000326184p.G300Dc.899G>ASubstitution - Missense
KIAA1199ENSG00000103888ENST00000356249p.G924Sc.2770G>ASubstitution - Missense
ARRB1ENSG00000137486ENST00000360025p.R99Rc.295C>ASubstitution - coding silent
MYH7ENSG00000092054ENST00000355349p.?c.1579-3C>AUnknown
PRB2ENSG00000121335ENST00000389362p.P113fs*>56c.338_1020>TComplex - frameshift
PIAS3ENSG00000131788ENST00000393045p.R33Wc.97C>TSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.P2483Sc.7447C>TSubstitution - Missense
PBXIP1ENSG00000163346ENST00000368463p.D244Yc.730G>TSubstitution - Missense
ZNF729ENSG00000196350ENST00000357491p.S725Sc.2175A>GSubstitution - coding silent
SLC13A5ENSG00000141485ENST00000433363p.A164Tc.490G>ASubstitution - Missense
ENST00000317082p.D606Dc.1818C>TSubstitution - coding silent
CASRENSG00000036828ENST00000296154p.I614Mc.1842C>GSubstitution - Missense
SLC2A11ENSG00000133460ENST00000398356p.P82Sc.244C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000448038p.G8249Rc.24745G>ASubstitution - Missense
ARRB1ENSG00000137486ENST00000393505p.R99Rc.295C>ASubstitution - coding silent
ENST00000395215p.N36Sc.107A>GSubstitution - Missense
VWFENSG00000110799ENST00000261405p.G1643Sc.4927G>ASubstitution - Missense
ARAP1ENSG00000186635ENST00000334211p.Q516*c.1546C>TSubstitution - Nonsense
KIAA2013ENSG00000116685ENST00000376572p.Q335Rc.1004A>GSubstitution - Missense
MARS2ENSG00000247626ENST00000282276p.R27Rc.81C>GSubstitution - coding silent
ENST00000328380p.G931Vc.2792G>TSubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
TENM2ENSG00000145934ENST00000518659p.A2536Vc.7607C>TSubstitution - Missense
SPTBN4ENSG00000160460ENST00000344104p.S73Lc.218C>TSubstitution - Missense
CALCOCO1ENSG00000012822ENST00000550804p.?c.1482+7A>GUnknown
MTA1ENSG00000182979ENST00000331320p.?c.1625-8C>TUnknown
TFB2MENSG00000162851ENST00000366514p.R379Cc.1135C>TSubstitution - Missense
GJB3ENSG00000188910ENST00000373366p.L245Vc.733C>GSubstitution - Missense
MTORENSG00000198793ENST00000361445p.Q1207Pc.3620A>CSubstitution - Missense
ACSM1ENSG00000166743ENST00000219151p.R129Hc.386G>ASubstitution - Missense
NR1D2ENSG00000174738ENST00000312521p.S49Yc.146C>ASubstitution - Missense
ENST00000405167p.S3864Ac.11590T>GSubstitution - Missense
NLRP4ENSG00000160505ENST00000587891p.P266Lc.797C>TSubstitution - Missense
RALGDSENSG00000160271ENST00000372062p.C444Cc.1332C>TSubstitution - coding silent
TTC14ENSG00000163728ENST00000382584p.K449Tc.1346A>CSubstitution - Missense
ZFP57ENSG00000204644ENST00000376883p.R231Hc.692G>ASubstitution - Missense
LMNAENSG00000160789ENST00000392353p.S333Sc.999C>TSubstitution - coding silent
EML5ENSG00000165521ENST00000352093p.H149Hc.447T>CSubstitution - coding silent
TMEM151AENSG00000179292ENST00000327259p.A274Ac.822C>ASubstitution - coding silent
ACTN2ENSG00000077522ENST00000366578p.P855Sc.2563C>TSubstitution - Missense
FREM2ENSG00000150893ENST00000280481p.V1893Lc.5677G>CSubstitution - Missense
RNF111ENSG00000157450ENST00000434298p.K47Rc.140A>GSubstitution - Missense
FLGENSG00000143631ENST00000368799p.H588Hc.1764T>CSubstitution - coding silent
SCAF1ENSG00000126461ENST00000360565p.S298Lc.893C>TSubstitution - Missense
ALS2CR11ENSG00000155754ENST00000286195p.L494fs*1c.1481delTDeletion - Frameshift
MARS2ENSG00000247626ENST00000282276p.E127Kc.379G>ASubstitution - Missense
ENST00000331807p.D342Dc.1026C>TSubstitution - coding silent
DNAH11ENSG00000105877ENST00000328843p.E3272Qc.9814G>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.G8320Rc.24958G>ASubstitution - Missense
ZNF445ENSG00000185219ENST00000396077p.M206Ic.618G>TSubstitution - Missense
RALGDSENSG00000160271ENST00000542690p.C544Cc.1632C>TSubstitution - coding silent
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
MYO5AENSG00000197535ENST00000358212p.?c.3849+7G>AUnknown
ENST00000545858p.R155Qc.464G>ASubstitution - Missense
HERC5ENSG00000138646ENST00000264350p.D521Gc.1562A>GSubstitution - Missense
PCDHB10ENSG00000120324ENST00000239446p.G622Gc.1866G>CSubstitution - coding silent
CWC27ENSG00000153015ENST00000381070p.A295Vc.884C>TSubstitution - Missense
SURF4ENSG00000148248ENST00000371989p.G96Wc.286G>TSubstitution - Missense
ORC1ENSG00000085840ENST00000371568p.R844Qc.2531G>ASubstitution - Missense
POU2F3ENSG00000137709ENST00000260264p.R333Rc.999C>TSubstitution - coding silent
EP400ENSG00000183495ENST00000389561p.S1775Gc.5323A>GSubstitution - Missense
RSPH1ENSG00000160188ENST00000291536p.A131Vc.392C>TSubstitution - Missense
COL18A1ENSG00000182871ENST00000359759p.P448Lc.1343C>TSubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.A976Tc.2926G>ASubstitution - Missense
RAD51AP1ENSG00000111247ENST00000543041p.A162Vc.485C>TSubstitution - Missense
ENST00000312777_v70p.E113fs*24c.334_335insAInsertion - Frameshift
MEP1AENSG00000112818ENST00000230588p.R439Qc.1316G>ASubstitution - Missense
CUL2ENSG00000108094ENST00000374751p.R70Qc.209G>ASubstitution - Missense
PDE3AENSG00000172572ENST00000359062p.I951Ic.2853C>ASubstitution - coding silent
ZBTB3ENSG00000185670ENST00000394807p.P419Sc.1255C>TSubstitution - Missense
DAP3ENSG00000132676ENST00000368336p.?c.271-1340_844-88del7227Unknown
ENST00000434864p.R138Qc.413G>ASubstitution - Missense
ANKZF1ENSG00000163516ENST00000323348p.R156Rc.468A>CSubstitution - coding silent
SYCP2LENSG00000153157ENST00000283141p.L458Lc.1374A>CSubstitution - coding silent
TNS3ENSG00000136205ENST00000311160p.I1177Vc.3529A>GSubstitution - Missense
ENST00000359381p.L67Lc.201C>ASubstitution - coding silent
ADAMTS20ENSG00000173157ENST00000553158p.Q196Pc.587A>CSubstitution - Missense
MPP4ENSG00000082126ENST00000359962p.I145Mc.435C>GSubstitution - Missense
RALGDSENSG00000160271ENST00000393157p.C472Cc.1416C>TSubstitution - coding silent
ENST00000412131p.P1687Tc.5059C>ASubstitution - Missense
RNF187ENSG00000168159ENST00000305943p.N23Sc.68A>GSubstitution - Missense
NM_015133.2p.E496Qc.1486G>CSubstitution - Missense
PHF20ENSG00000025293ENST00000374012p.R287Rc.861A>GSubstitution - coding silent
BRWD1ENSG00000185658ENST00000342449p.S653Tc.1958G>CSubstitution - Missense
BCORENSG00000183337ENST00000378444p.M461fs*16c.1374_1375insAAInsertion - Frameshift
GPR126ENSG00000112414ENST00000296932p.R154Gc.460A>GSubstitution - Missense
SETD2ENSG00000181555ENST00000409792p.Y2152Cc.6455A>GSubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.Q694Hc.2082G>TSubstitution - Missense
GIMAP7ENSG00000179144ENST00000313543p.A2Vc.5C>TSubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.F606Vc.1816T>GSubstitution - Missense
ENST00000298953_v70p.?c.799-4G>TUnknown
ADAMTSL2ENSG00000197859ENST00000393061p.S884Sc.2652C>GSubstitution - coding silent
FHAD1ENSG00000142621ENST00000375999p.C1449fs*>18c.4345_4346ins37Insertion - Frameshift
ARAP1ENSG00000186635ENST00000393609p.Q761*c.2281C>TSubstitution - Nonsense
AHNAK2ENSG00000185567ENST00000333244p.L5589Lc.16767C>ASubstitution - coding silent
OR56A1ENSG00000180934ENST00000316650p.A6Ac.18G>ASubstitution - coding silent
ENST00000535394p.G27Ec.80G>ASubstitution - Missense
TTNENSG00000155657ENST00000342992p.V18300Mc.54898G>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.V11995Mc.35983G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.R3900Hc.11699G>ASubstitution - Missense
WASH4PENSG00000234769ENST00000326592p.G446Gc.1338G>ASubstitution - coding silent
NM_024947.2p.V572Vc.1716G>ASubstitution - coding silent
FCGBPENSG00000090920ENST00000221347p.S5142Sc.15426C>TSubstitution - coding silent
OR4A15ENSG00000181958ENST00000314706p.N48Yc.142A>TSubstitution - Missense
TENM2ENSG00000145934ENST00000545108p.A2535Vc.7604C>TSubstitution - Missense
GPR31ENSG00000120436ENST00000366834p.A144Tc.430G>ASubstitution - Missense
INTS6ENSG00000102786ENST00000311234p.L531Lc.1593G>ASubstitution - coding silent
DGKZENSG00000149091ENST00000421244p.I203Mc.609T>GSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.L559Lc.1677C>ASubstitution - coding silent
ENST00000264546_v70p.?c.144+4_144+5ins11Unknown
ERCC5ENSG00000134899ENST00000355739p.A369Vc.1106C>TSubstitution - Missense
KDM4AENSG00000066135ENST00000372396p.F674Fc.2022C>TSubstitution - coding silent
ASPMENSG00000066279ENST00000367409p.I3432Nc.10295T>ASubstitution - Missense
TMEM52ENSG00000178821ENST00000378602p.P38Lc.113C>TSubstitution - Missense
ASUNENSG00000064102ENST00000261191p.G605Vc.1814G>TSubstitution - Missense
KIAA1549ENSG00000122778ENST00000422774p.F160Vc.478T>GSubstitution - Missense
AMIGO3ENSG00000176020ENST00000320431p.A380fs*92c.1139_1146delCTTTCAACDeletion - Frameshift
MICAL3ENSG00000243156ENST00000441493p.T1355Tc.4065G>ASubstitution - coding silent
ANKRD30BENSG00000180777ENST00000447268p.T390Ac.1168A>GSubstitution - Missense
FAM173BENSG00000150756ENST00000511437p.S155Lc.464C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.G8320Rc.24958G>ASubstitution - Missense
KALRNENSG00000160145ENST00000360013p.A1004Ac.3012C>ASubstitution - coding silent
PTPRMENSG00000173482ENST00000332175p.C420Rc.1258T>CSubstitution - Missense
UBLCP1ENSG00000164332ENST00000296786p.P132Tc.394C>ASubstitution - Missense
HRASENSG00000174775ENST00000397596p.R164Qc.491G>ASubstitution - Missense
CDC20BENSG00000164287ENST00000322374p.Q79Ec.235C>GSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.R248Qc.743G>ASubstitution - Missense
RNASE10ENSG00000182545ENST00000328444p.S181Pc.541T>CSubstitution - Missense
ADAMTS20ENSG00000173157ENST00000389420p.Q196Pc.587A>CSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.P2483Sc.7447C>TSubstitution - Missense
UNC13DENSG00000092929ENST00000207549p.D324Dc.972C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.V11928Mc.35782G>ASubstitution - Missense
ZNF512BENSG00000196700ENST00000369888p.P856Pc.2568T>CSubstitution - coding silent
SCML1ENSG00000047634ENST00000380041p.V61Fc.181G>TSubstitution - Missense
C22orf34ENSG00000188511ENST00000444628p.V200Vc.600C>ASubstitution - coding silent
KRT16ENSG00000186832ENST00000301653p.V52fs*67c.154_157delGTCTDeletion - Frameshift
COG5ENSG00000164597ENST00000297135p.K94Ec.280A>GSubstitution - Missense
TANC1ENSG00000115183ENST00000263635p.R1107Qc.3320G>ASubstitution - Missense
TENM3ENSG00000218336ENST00000511685p.G481Sc.1441G>ASubstitution - Missense
ENST00000405167p.L1718Fc.5152C>TSubstitution - Missense
SEC14L3ENSG00000100012ENST00000415957p.R270Wc.808C>TSubstitution - Missense
BCKDKENSG00000103507ENST00000394951p.R187Cc.559C>TSubstitution - Missense
NM_021990p.R163Qc.488G>ASubstitution - Missense
C1orf116ENSG00000182795ENST00000359470p.R524Hc.1571G>ASubstitution - Missense
KIAA1109ENSG00000138688ENST00000264501p.V2529Mc.7585G>ASubstitution - Missense
ENST00000255326p.K429Qc.1285A>CSubstitution - Missense
KRTCAP2ENSG00000163463ENST00000295682p.G30Sc.88G>ASubstitution - Missense
ST5ENSG00000166444ENST00000534127p.P614Sc.1840C>TSubstitution - Missense
KLK1ENSG00000167748ENST00000301420p.V200Vc.600C>TSubstitution - coding silent
ARAP2ENSG00000047365ENST00000303965p.K1219Kc.3657G>ASubstitution - coding silent
ANKRD30BENSG00000180777ENST00000358984p.T390Ac.1168A>GSubstitution - Missense
WNK4ENSG00000126562ENST00000246914p.Q694Hc.2082G>TSubstitution - Missense
PRKCEENSG00000171132ENST00000306156p.P330Pc.990G>ASubstitution - coding silent
PHC3ENSG00000173889ENST00000495893p.V603Vc.1809G>ASubstitution - coding silent
KMT2CENSG00000055609ENST00000355193p.A976Tc.2926G>ASubstitution - Missense
TLL1ENSG00000038295ENST00000061240p.R105Qc.314G>ASubstitution - Missense
SU_OBSCN.1p.R6569Wc.19705C>TSubstitution - Missense
LMNAENSG00000160789ENST00000368300p.S414Sc.1242C>TSubstitution - coding silent
ENST00000426033p.A1351Dc.4052C>ASubstitution - Missense
ENST00000317082_v61p.D606Dc.1818C>TSubstitution - coding silent
EIF3HENSG00000147677ENST00000521861p.R105Rc.313C>ASubstitution - coding silent
TENM2ENSG00000145934ENST00000519204p.A2415Vc.7244C>TSubstitution - Missense
CDC20BENSG00000164287ENST00000334206p.Q79Ec.235C>GSubstitution - Missense
CDC20BENSG00000164287ENST00000331730p.Q58Ec.172C>GSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense
ZSWIM8ENSG00000214655ENST00000398706p.P1700Tc.5098C>ASubstitution - Missense
PAMR1ENSG00000149090ENST00000278360p.D494Dc.1482C>TSubstitution - coding silent
ENST00000336674p.R446Wc.1336C>TSubstitution - Missense
ENST00000335500p.Q550Lc.1649A>TSubstitution - Missense
PRUNE2ENSG00000106772ENST00000376718p.I2141Tc.6422T>CSubstitution - Missense
IGSF23ENSG00000216588ENST00000402988p.?c.126-6_126-3delagacUnknown
PTPRMENSG00000173482ENST00000400060p.C420Rc.1258T>CSubstitution - Missense
C10orf12ENSG00000155640ENST00000286067p.G369Rc.1105G>ASubstitution - Missense
TELO2ENSG00000100726ENST00000262319p.Q227Qc.681G>ASubstitution - coding silent
KRTAP10-7ENSG00000205441ENST00000380102p.V68Vc.204G>ASubstitution - coding silent
KRTAP1-3ENSG00000221880ENST00000344363p.R114Hc.341G>ASubstitution - Missense
GPR45ENSG00000135973ENST00000258456p.G51Gc.153C>TSubstitution - coding silent
SLC4A1ENSG00000004939ENST00000262418p.V437Vc.1311G>ASubstitution - coding silent
TTC14ENSG00000163728ENST00000296015p.K449Tc.1346A>CSubstitution - Missense
ALDH8A1ENSG00000118514ENST00000265605p.A54Tc.160G>ASubstitution - Missense
SPATA18ENSG00000163071ENST00000295213p.A427Vc.1280C>TSubstitution - Missense
C12orf55ENSG00000188596ENST00000298953p.?c.799-4G>TUnknown
ADAMTS20ENSG00000173157ENST00000389420p.Q196Pc.587A>CSubstitution - Missense
PIAS3ENSG00000131788ENST00000393045p.R33Wc.97C>TSubstitution - Missense
ENST00000356127p.S4690Yc.14069C>ASubstitution - Missense
TOM1L2ENSG00000175662ENST00000379504p.R278fs*14c.832delCDeletion - Frameshift
CHMP1AENSG00000131165ENST00000253475p.A227Vc.680C>TSubstitution - Missense
BPIFCENSG00000184459ENST00000397452p.T116Ac.346A>GSubstitution - Missense
TCP1ENSG00000120438ENST00000321394p.I524Lc.1570A>CSubstitution - Missense
C22orf34ENSG00000188511ENST00000444628p.T202Tc.606C>GSubstitution - coding silent
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
MEGF8ENSG00000105429ENST00000251268p.L1125Lc.3375G>CSubstitution - coding silent
ENST00000251268_v61p.L1584Lc.4752G>CSubstitution - coding silent
ACTR5ENSG00000101442ENST00000243903p.N350Kc.1050T>ASubstitution - Missense
SLC35C2ENSG00000080189ENST00000543605p.V4Fc.10G>TSubstitution - Missense
MMP9ENSG00000100985ENST00000372330p.P472Sc.1414C>TSubstitution - Missense
SPATA18ENSG00000163071ENST00000295213p.A427Vc.1280C>TSubstitution - Missense
CLCN2ENSG00000114859ENST00000265593p.R645_R646insWc.1933_1934insGCTInsertion - In frame
THPOENSG00000090534ENST00000204615p.G100Ac.299G>CSubstitution - Missense
DDX60ENSG00000137628ENST00000393743p.F606Vc.1816T>GSubstitution - Missense
ENST00000388903p.A2369Vc.7106C>TSubstitution - Missense
CDC20BENSG00000164287ENST00000296733p.Q79Ec.235C>GSubstitution - Missense
SPDEFENSG00000124664ENST00000374037p.S72Gc.214A>GSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.R248Qc.743G>ASubstitution - Missense
MYOFENSG00000138119ENST00000371501p.L761Lc.2283A>GSubstitution - coding silent
MYOFENSG00000138119ENST00000371502p.L761Lc.2283A>GSubstitution - coding silent
LRRC55ENSG00000183908ENST00000497933p.G215Gc.645G>ASubstitution - coding silent
BSCL2ENSG00000168000ENST00000433053p.R456Hc.1367G>ASubstitution - Missense
EP400ENSG00000183495ENST00000333577p.S1811Gc.5431A>GSubstitution - Missense
RAD51AP1ENSG00000111247ENST00000228843p.A297Vc.890C>TSubstitution - Missense
PIAS3ENSG00000131788ENST00000369299p.R24Wc.70C>TSubstitution - Missense
ACTN2ENSG00000077522ENST00000542672p.P855Sc.2563C>TSubstitution - Missense
PTPRFENSG00000142949ENST00000422171p.K985Kc.2955G>ASubstitution - coding silent
MTA1ENSG00000182979ENST00000435036p.?c.233-8C>TUnknown
SEZ6ENSG00000063015ENST00000360295p.R961Hc.2882G>ASubstitution - Missense
SLC2A11ENSG00000133460ENST00000345044p.P75Sc.223C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.L1718Fc.5152C>TSubstitution - Missense
ALS2CLENSG00000178038ENST00000318962p.P290Pc.870C>TSubstitution - coding silent
TTLL3ENSG00000214021ENST00000426895p.R589Wc.1765C>TSubstitution - Missense
KIAA1109ENSG00000138688ENST00000455637p.V2529Mc.7585G>ASubstitution - Missense
ENST00000413257p.?c.1296+7A>GUnknown
RTCBENSG00000100220ENST00000451746p.?c.477+2T>CUnknown
SYNE1ENSG00000131018ENST00000341594p.G7932Rc.23794G>ASubstitution - Missense
SLC25A27ENSG00000153291ENST00000411689p.Q142Qc.426G>ASubstitution - coding silent
ENST00000425120p.Q72Qc.216G>ASubstitution - coding silent
MUC12ENSG00000205277ENST00000379442p.P4136Hc.12407C>ASubstitution - Missense
ENST00000328843_v70p.E3272Qc.9814G>CSubstitution - Missense
CSMD1ENSG00000183117ENST00000539096p.V1729Vc.5187G>TSubstitution - coding silent
ADAMTSL2ENSG00000197859ENST00000393061p.S823Sc.2469G>ASubstitution - coding silent
SURF4ENSG00000148248ENST00000371991p.G96Wc.286G>TSubstitution - Missense
KRTAP10-2ENSG00000205445ENST00000391621p.P87Lc.260C>TSubstitution - Missense
CLEC12AENSG00000172322ENST00000355690p.R129Cc.385C>TSubstitution - Missense
GABREENSG00000102287ENST00000370328p.R276Qc.827G>ASubstitution - Missense
KIF20BENSG00000138182ENST00000260753p.D1378Nc.4132G>ASubstitution - Missense
ZNF362ENSG00000160094ENST00000373428p.S217Sc.651G>ASubstitution - coding silent
RTN3ENSG00000133318ENST00000339997p.E226Gc.677A>GSubstitution - Missense
MRPS35ENSG00000061794ENST00000081029p.E302Gc.905A>GSubstitution - Missense
KRTAP10-3ENSG00000212935ENST00000391620p.P180Pc.540T>CSubstitution - coding silent
ALS2CR11ENSG00000155754ENST00000450242p.L494fs*1c.1481delTDeletion - Frameshift
IL18RAPENSG00000115607ENST00000264260p.D183Hc.547G>CSubstitution - Missense
NM_016323.1p.D521Gc.1562A>GSubstitution - Missense
SLC22A1ENSG00000175003ENST00000366963p.V40Vc.120C>ASubstitution - coding silent
EIF3BENSG00000106263ENST00000397011p.R341Hc.1022G>ASubstitution - Missense
SETD2ENSG00000181555ENST00000330022p.Y1649Cc.4946A>GSubstitution - Missense
BCHEENSG00000114200ENST00000264381p.S92Ac.274T>GSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.S714Sc.2142G>ASubstitution - coding silent
SIENSG00000090402ENST00000264382p.L1347Ic.4039C>ASubstitution - Missense
WWP2ENSG00000198373ENST00000359154p.R360Gc.1078C>GSubstitution - Missense
BRD2ENSG00000204256ENST00000395289p.A27Ac.81A>GSubstitution - coding silent
SLC25A27ENSG00000153291ENST00000371347p.Q142Qc.426G>ASubstitution - coding silent
ARHGAP35ENSG00000160007ENST00000404338p.D606Dc.1818C>TSubstitution - coding silent
SEMA5AENSG00000112902ENST00000382496p.R995Qc.2984G>ASubstitution - Missense
CYP2C18ENSG00000108242ENST00000285979p.P30Lc.89C>TSubstitution - Missense
OBSCNENSG00000154358ENST00000570156p.R6699Wc.20095C>TSubstitution - Missense
DGKZENSG00000149091ENST00000343674p.I219Mc.657T>GSubstitution - Missense
ENSG00000172901ENST00000395528p.G220Gc.660A>GSubstitution - coding silent
BOD1L1ENSG00000038219ENST00000040738p.I497Ic.1491T>CSubstitution - coding silent
GPR126ENSG00000112414ENST00000367609p.R154Gc.460A>GSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.G8249Rc.24745G>ASubstitution - Missense
CRHR2ENSG00000106113ENST00000348438p.G258Vc.773G>TSubstitution - Missense
CRHR2ENSG00000106113ENST00000471646p.G231Vc.692G>TSubstitution - Missense
CRHR2ENSG00000106113ENST00000341843p.G217Vc.650G>TSubstitution - Missense
CCDC108ENSG00000181378ENST00000341552p.P391Pc.1173C>TSubstitution - coding silent
CCDC108ENSG00000181378ENST00000295729p.K120Kc.360G>ASubstitution - coding silent
COL4A3ENSG00000169031ENST00000396578p.G931Vc.2792G>TSubstitution - Missense
TRIP12ENSG00000153827ENST00000283943p.I778Tc.2333T>CSubstitution - Missense
SH3BP4ENSG00000130147ENST00000344528p.G682Gc.2046G>ASubstitution - coding silent
XPO1ENSG00000082898ENST00000401558p.V889Vc.2667C>TSubstitution - coding silent
KALRNENSG00000160145ENST00000240874p.A1004Ac.3012C>ASubstitution - coding silent
ACAD9ENSG00000177646ENST00000308982p.F70Fc.210C>TSubstitution - coding silent
C22orf34ENSG00000188511ENST00000444628p.P177Ac.529C>GSubstitution - Missense
C22orf34ENSG00000188511ENST00000444628p.Q175Kc.523C>ASubstitution - Missense
TTC38ENSG00000075234ENST00000381031p.S295Nc.884G>ASubstitution - Missense
PLXNB1ENSG00000164050ENST00000296440p.V1822Vc.5466C>GSubstitution - coding silent
MAPK13ENSG00000156711ENST00000211287p.Y36Cc.107A>GSubstitution - Missense
MAPK13ENSG00000156711ENST00000211287p.Y36Cc.107A>GSubstitution - Missense
FBXO24ENSG00000106336ENST00000427939p.S333Pc.997T>CSubstitution - Missense
FBXO24ENSG00000106336ENST00000241071p.S295Pc.883T>CSubstitution - Missense
MUC12ENSG00000205277ENST00000536621p.P3993Hc.11978C>ASubstitution - Missense
IFNEENSG00000184995ENST00000448696p.K108Qc.322A>CSubstitution - Missense
IFNA10ENSG00000186803ENST00000357374p.V143Ac.428T>CSubstitution - Missense
IFNA4ENSG00000236637ENST00000421715p.Q85*c.253C>TSubstitution - Nonsense
MTMR8ENSG00000102043ENST00000374852p.?c.1609-1G>TUnknown
ERCC6LENSG00000186871ENST00000334463p.N53Kc.159T>ASubstitution - Missense
TMEM59LENSG00000105696ENST00000262817p.D328Gc.983A>GSubstitution - Missense
SEZ6L2ENSG00000174938ENST00000308713p.R904Rc.2710C>ASubstitution - coding silent
SEZ6L2ENSG00000174938ENST00000350527p.R847Rc.2539C>ASubstitution - coding silent
NM_006596.3p.V1358Vc.4074C>GSubstitution - coding silent
FBLN2ENSG00000163520ENST00000492059p.Y802Hc.2404T>CSubstitution - Missense
FBLN2ENSG00000163520ENST00000404922p.Y221Hc.661T>CSubstitution - Missense
ESYT3ENSG00000158220ENST00000389567p.V840Fc.2518G>TSubstitution - Missense
CEP70ENSG00000114107ENST00000264982p.Q263Hc.789G>CSubstitution - Missense
RAB23ENSG00000112210ENST00000317483p.T184Kc.551C>ASubstitution - Missense
DSPENSG00000096696ENST00000379802p.K1323Qc.3967A>CSubstitution - Missense
LPOENSG00000167419ENST00000262290p.P431Lc.1292C>TSubstitution - Missense
BZRAP1ENSG00000005379ENST00000343736p.?c.1423-9C>AUnknown
BZRAP1ENSG00000005379ENST00000355701p.?c.1423-9C>AUnknown
PCDHGA4ENSG00000262576ENST00000571252p.L14Fc.40C>TSubstitution - Missense
ENST00000571252_v68p.L14Fc.40C>TSubstitution - Missense
TCERG1ENSG00000113649ENST00000296702p.A124Tc.370G>ASubstitution - Missense
ADRB2ENSG00000169252ENST00000305988p.T25Ac.73A>GSubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.S775Sc.2325C>GSubstitution - coding silent
RALGDSENSG00000160271ENST00000372050p.C473Cc.1419C>TSubstitution - coding silent
ZCCHC6ENSG00000083223ENST00000375963p.N999Yc.2995A>TSubstitution - Missense
IARSENSG00000196305ENST00000375643p.M179Ic.537G>TSubstitution - Missense
SIRT2ENSG00000068903ENST00000249396p.R174Qc.521G>ASubstitution - Missense
SPTBN4ENSG00000160460ENST00000352632p.S73Lc.218C>TSubstitution - Missense
SDK1ENSG00000146555ENST00000404826p.T1188Sc.3563C>GSubstitution - Missense
PCDHB7ENSG00000113212ENST00000231137p.C752Cc.2256C>TSubstitution - coding silent
DDX56ENSG00000136271ENST00000258772p.E222Kc.664G>ASubstitution - Missense
SLC29A4ENSG00000164638ENST00000297195p.L224Lc.670C>TSubstitution - coding silent
XKR6ENSG00000171044ENST00000416569p.R437Qc.1310G>ASubstitution - Missense
COG4ENSG00000103051ENST00000323786p.V674Vc.2022C>GSubstitution - coding silent
PKD1ENSG00000008710ENST00000262304p.T2702Ic.8105C>TSubstitution - Missense
WDR24ENSG00000127580ENST00000293883p.E788Vc.2363A>TSubstitution - Missense
WDR24ENSG00000127580ENST00000248142p.E918Vc.2753A>TSubstitution - Missense
POLR3EENSG00000058600ENST00000299853p.L332Lc.994C>TSubstitution - coding silent
PCSK4ENSG00000115257ENST00000300954p.V476Lc.1426G>TSubstitution - Missense
MEGF8ENSG00000105429ENST00000334370p.L1517Lc.4551G>CSubstitution - coding silent
EML5ENSG00000165521ENST00000554922p.H149Hc.447T>CSubstitution - coding silent
GBP7ENSG00000213512ENST00000294671p.A138Tc.412G>ASubstitution - Missense
SPACA7ENSG00000153498ENST00000283550p.P66Pc.198G>TSubstitution - coding silent
SPEF2ENSG00000152582ENST00000356031p.?c.2840-1G>CUnknown
TTNENSG00000155657ENST00000342992p.S4690Yc.14069C>ASubstitution - Missense
SMARCAL1ENSG00000138375ENST00000357276p.N946Tc.2837A>CSubstitution - Missense
TOM1L2ENSG00000175662ENST00000581396p.R228fs*14c.682delCDeletion - Frameshift
CCDC144AENSG00000170160ENST00000456009p.T863Tc.2589G>ASubstitution - coding silent
ZNF555ENSG00000186300ENST00000334241p.Y490Cc.1469A>GSubstitution - Missense
NR1H2ENSG00000131408ENST00000253727p.G48Gc.144C>ASubstitution - coding silent
RBM12ENSG00000244462ENST00000374104p.P99Qc.296C>ASubstitution - Missense
LBPENSG00000129988ENST00000217407p.L125Qc.374T>ASubstitution - Missense
ATP9AENSG00000054793ENST00000338821p.T262Sc.784A>TSubstitution - Missense
PCK1ENSG00000124253ENST00000319441p.I65Nc.194T>ASubstitution - Missense
ERMP1ENSG00000099219ENST00000543230p.?c.1169+6C>GUnknown
CACNG5ENSG00000075429ENST00000533854p.Q269Qc.807G>ASubstitution - coding silent
PHF12ENSG00000109118ENST00000332830p.P800Pc.2400C>TSubstitution - coding silent
SEZ6ENSG00000063015ENST00000317338p.R961Hc.2882G>ASubstitution - Missense
CCDC40ENSG00000141519ENST00000397545p.R1006Hc.3017G>ASubstitution - Missense
AATKENSG00000181409ENST00000326724p.P1158Lc.3473C>TSubstitution - Missense
AATKENSG00000181409ENST00000326724p.P1158Lc.3473C>TSubstitution - Missense
DSCAMENSG00000171587ENST00000400454p.P1229Sc.3685C>TSubstitution - Missense
BRWD1ENSG00000185658ENST00000333229p.S653Tc.1958G>CSubstitution - Missense
ENST00000380102_v68p.V68Vc.204G>ASubstitution - coding silent
PPEF2ENSG00000156194ENST00000286719p.T659Sc.1975A>TSubstitution - Missense
ADCY7ENSG00000121281ENST00000394697p.H434Nc.1300C>ASubstitution - Missense
ARAP2ENSG00000047365ENST00000303965p.N949Sc.2846A>GSubstitution - Missense
TECENSG00000135605ENST00000381501p.C532Cc.1596T>CSubstitution - coding silent
ENST00000242365_v65p.F110Vc.328T>GSubstitution - Missense
ZBTB10ENSG00000205189ENST00000455036p.L269Fc.805C>TSubstitution - Missense
NARSENSG00000134440ENST00000256854p.T43Tc.129C>TSubstitution - coding silent
POTECENSG00000183206ENST00000358970p.V135Lc.403G>CSubstitution - Missense
CPXM1ENSG00000088882ENST00000380605p.L105Lc.315C>TSubstitution - coding silent
FASTKD5ENSG00000215251ENST00000380266p.T185Tc.555C>ASubstitution - coding silent
KIF3BENSG00000101350ENST00000375712p.R332Rc.996A>GSubstitution - coding silent
ENST00000356127p.V18298Mc.54892G>ASubstitution - Missense
NM_003319p.V11803Mc.35407G>ASubstitution - Missense
FAM117BENSG00000138439ENST00000392238p.G84_P85insGGc.248_249insCGGCGGInsertion - In frame
MPP4ENSG00000082126ENST00000409474p.I145Mc.435C>GSubstitution - Missense
MPP4ENSG00000082126ENST00000409474p.I145Mc.435C>GSubstitution - Missense
ALS2ENSG00000003393ENST00000264276p.Y1197*c.3591C>ASubstitution - Nonsense
ALS2CR11ENSG00000155754ENST00000439140p.L494fs*1c.1481delTDeletion - Frameshift
ANKRD36ENSG00000135976ENST00000420699p.?c.2581-6A>TUnknown
IRAK2ENSG00000134070ENST00000256458p.?c.723+3G>AUnknown
IRAK2ENSG00000134070ENST00000256458p.?c.723+3G>AUnknown
NMRAL1ENSG00000153406ENST00000283429p.Y207fs*1c.620_621insAInsertion - Frameshift
LMF1ENSG00000103227ENST00000262301p.F171Cc.512T>GSubstitution - Missense
ZNF331ENSG00000130844ENST00000253144p.R347Sc.1041G>CSubstitution - Missense
UCKL1ENSG00000198276ENST00000354216p.E250Kc.748G>ASubstitution - Missense
ZGPATENSG00000197114ENST00000328969p.R14Hc.41G>ASubstitution - Missense
PRR14LENSG00000183530ENST00000327423p.K1625Ic.4874A>TSubstitution - Missense
PRR14LENSG00000183530ENST00000397493p.K1625Ic.4874A>TSubstitution - Missense
SEC14L3ENSG00000100012ENST00000215812p.R329Wc.985C>TSubstitution - Missense
RTCBENSG00000100220ENST00000216038p.V160Ac.479T>CSubstitution - Missense
ENST00000405167p.G3900Dc.11699G>ASubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.V1729Vc.5187G>TSubstitution - coding silent
ENST00000318252p.V1458Vc.4374G>TSubstitution - coding silent
BCORENSG00000183337ENST00000397354p.M461fs*16c.1374_1375insAAInsertion - Frameshift
NLRP4ENSG00000160505ENST00000301295p.P341Lc.1022C>TSubstitution - Missense
RFPL4AENSG00000223638ENST00000434937p.S83Cc.248C>GSubstitution - Missense
ZSCAN18ENSG00000121413ENST00000433686p.I411Vc.1231A>GSubstitution - Missense
ZSCAN18ENSG00000121413ENST00000240727p.I355Vc.1063A>GSubstitution - Missense
SRP19ENSG00000153037ENST00000505459p.I18Lc.52A>CSubstitution - Missense
KIFC3ENSG00000140859ENST00000379655p.E144Ec.432G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.R248Qc.743G>ASubstitution - Missense
TP53ENSG00000141510ENST00000413465p.R248Qc.743G>ASubstitution - Missense
NM_020340.2p.V271Mc.811G>ASubstitution - Missense
HRNRENSG00000197915ENST00000368801p.G490Sc.1468G>ASubstitution - Missense
UBE3CENSG00000009335ENST00000348165p.?c.459-3C>TUnknown
EMC2ENSG00000104412ENST00000220853p.R126Hc.377G>ASubstitution - Missense
CLEC12AENSG00000172322ENST00000304361p.R119Cc.355C>TSubstitution - Missense
BCKDKENSG00000103507ENST00000394951p.R187Cc.559C>TSubstitution - Missense
KIAA1244ENSG00000112379ENST00000251691p.V342Mc.1024G>ASubstitution - Missense
ARID3BENSG00000179361ENST00000346246p.A79Ac.237C>GSubstitution - coding silent
SIN3AENSG00000169375ENST00000394947p.A645Pc.1933G>CSubstitution - Missense
DIAPH3ENSG00000139734ENST00000400324p.I958Fc.2872A>TSubstitution - Missense
CRY1ENSG00000008405ENST00000008527p.G533Gc.1599G>ASubstitution - coding silent
TCHPENSG00000139437ENST00000312777p.E113fs*24c.334_335insAInsertion - Frameshift
NM_033667.1p.F252Fc.756C>TSubstitution - coding silent
ITGB1ENSG00000150093ENST00000396033p.F252Fc.756C>TSubstitution - coding silent
ITGB1ENSG00000150093ENST00000423113p.F252Fc.756C>TSubstitution - coding silent
ZNF488ENSG00000165388ENST00000395702p.G44Gc.132C>ASubstitution - coding silent
ZSWIM8ENSG00000214655ENST00000398706p.P1080Tc.3238C>ASubstitution - Missense
KIF20BENSG00000138182ENST00000416354p.D1448Nc.4342G>ASubstitution - Missense
MYOFENSG00000138119ENST00000359263p.L761Lc.2283A>GSubstitution - coding silent
VWA5AENSG00000110002ENST00000392748p.?c.1020-8T>AUnknown
DGKZENSG00000149091ENST00000454345p.I391Mc.1173T>GSubstitution - Missense
DGKZENSG00000149091ENST00000395574p.I169Mc.507T>GSubstitution - Missense
DARCENSG00000213088ENST00000368121p.L69Lc.207C>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.R5987Wc.17959C>TSubstitution - Missense
NID1ENSG00000116962ENST00000264187p.L1176Lc.3528C>TSubstitution - coding silent
NID1ENSG00000116962ENST00000264187p.C987Cc.2961C>TSubstitution - coding silent
ZFHX2ENSG00000136367ENST00000419474p.L1805Lc.5413C>TSubstitution - coding silent
SCGB1A1ENSG00000149021ENST00000278282p.?c.243+46_276del638Unknown
BEST1ENSG00000167995ENST00000449131p.A106Sc.316G>TSubstitution - Missense
BEST1ENSG00000167995ENST00000378043p.A166Sc.496G>TSubstitution - Missense
TAF6LENSG00000162227ENST00000294168p.Q287Kc.859C>ASubstitution - Missense
BSCL2ENSG00000168000ENST00000403550p.R392Hc.1175G>ASubstitution - Missense
HALENSG00000084110ENST00000261208p.I591Vc.1771A>GSubstitution - Missense
RAD51AP1ENSG00000111247ENST00000352618p.A280Vc.839C>TSubstitution - Missense
DNM3ENSG00000197959ENST00000358155p.I527Tc.1580T>CSubstitution - Missense
NM_004667.3p.D3800Vc.11399A>TSubstitution - Missense
TOMM40LENSG00000158882ENST00000367987p.D85Nc.253G>ASubstitution - Missense
NCR3LG1ENSG00000188211ENST00000338965p.R231Wc.691C>TSubstitution - Missense
LUZP2ENSG00000187398ENST00000336930p.K137Tc.410A>CSubstitution - Missense
DEPDC7ENSG00000121690ENST00000241051p.?c.465-8C>TUnknown
DEPDC7ENSG00000121690ENST00000311388p.?c.438-8C>TUnknown
MYBPHLENSG00000221986ENST00000357155p.W54Rc.160T>CSubstitution - Missense
MAPK8IP3ENSG00000138834ENST00000250894p.E496Qc.1486G>CSubstitution - Missense
ACSM1ENSG00000166743ENST00000307493p.R478Hc.1433G>ASubstitution - Missense
TRDMT1ENSG00000107614ENST00000377799p.Q309Hc.927G>TSubstitution - Missense
DCAF5ENSG00000139990ENST00000341516p.L28Mc.82C>ASubstitution - Missense
GSPT1ENSG00000103342ENST00000434724p.T600Tc.1800C>TSubstitution - coding silent
NM_002094.1p.T462Tc.1386C>TSubstitution - coding silent
ENST00000398860p.N1635Nc.4905C>TSubstitution - coding silent
KCNQ4ENSG00000117013ENST00000347132p.S229Lc.686C>TSubstitution - Missense
PTPRFENSG00000142949ENST00000359947p.K1626Kc.4878G>ASubstitution - coding silent
PRB2ENSG00000121335ENST00000389362p.P134fs*>56c.401_1083>TComplex - frameshift
KIAA2013ENSG00000116685ENST00000376576p.Q335Rc.1004A>GSubstitution - Missense
ENST00000398270p.?c.301+7T>GUnknown
PBXIP1ENSG00000163346ENST00000368460p.D213Yc.637G>TSubstitution - Missense
MYO5AENSG00000197535ENST00000399231p.?c.3849+7G>AUnknown
RNF111ENSG00000157450ENST00000348370p.K47Rc.140A>GSubstitution - Missense
GPR133ENSG00000111452ENST00000261654p.S796Fc.2387C>TSubstitution - Missense
ARID1AENSG00000117713ENST00000324856p.D1116fs*45c.3346delGDeletion - Frameshift
NRXN3ENSG00000021645ENST00000335750p.V137Vc.411G>ASubstitution - coding silent


COSMIC

2 mutations reported
1 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
CDKN2AENSG00000147889ENST00000304494p.0?c.1_471del471Whole gene deletion25010205
TP53ENSG00000141510ENST00000269305p.R248Qc.?Substitution - Missense25010205