Cell Line Synopsis
Cell Line Overview
Mutations
Copy Number Variation
Gene Expression
RNAi
Compound Sensitivity Profile
Similar Cell Lines

MC116 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

637 mutations reported
218 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
ALDH4A1ENSG00000159423ENST00000375341p.S359Sc.1077G>CSubstitution - coding silent
TERF1ENSG00000147601ENST00000276603p.C15Gc.43T>GSubstitution - Missense
TUSC3ENSG00000104723ENST00000503731p.A179Ac.537A>TSubstitution - coding silent
UVSSAENSG00000163945ENST00000389851p.Y504Yc.1512C>TSubstitution - coding silent
FBLN2ENSG00000163520ENST00000404922p.P468Ac.1402C>GSubstitution - Missense
CXCR4ENSG00000121966ENST00000241393p.M1Lc.1A>TSubstitution - Missense
RAD50ENSG00000113522ENST00000265335p.C681Fc.2042G>TSubstitution - Missense
USP32ENSG00000170832ENST00000300896p.K726Rc.2177A>GSubstitution - Missense
EVCENSG00000072840ENST00000264956p.L582Vc.1744C>GSubstitution - Missense
OR10H2ENSG00000171942ENST00000305899p.T278Tc.834C>TSubstitution - coding silent
PTPRFENSG00000142949ENST00000422171p.R530Hc.1589G>ASubstitution - Missense
ABRAENSG00000174429ENST00000311955p.E5Kc.13G>ASubstitution - Missense
BCL6ENSG00000113916ENST00000406870p.A587Dc.1760C>ASubstitution - Missense
RAP1GAPENSG00000076864ENST00000374761p.Q260Kc.778C>ASubstitution - Missense
DIS3ENSG00000083520ENST00000377767p.?c.654+6T>AUnknown
HECTD4ENSG00000173064ENST00000377560p.R2025Qc.6074G>ASubstitution - Missense
H1FNTENSG00000187166ENST00000335017p.Q62Kc.184C>ASubstitution - Missense
ENST00000350997_v71p.P159Lc.476C>TSubstitution - Missense
KIF26BENSG00000162849ENST00000407071p.G955Wc.2863G>TSubstitution - Missense
MMP20ENSG00000137674ENST00000260228p.N440Nc.1320T>CSubstitution - coding silent
CLCC1ENSG00000121940ENST00000369976p.S227Rc.681C>ASubstitution - Missense
RORAENSG00000069667ENST00000261523p.E547*c.1639G>TSubstitution - Nonsense
KLHDC8AENSG00000162873ENST00000367155p.A15Tc.43G>ASubstitution - Missense
USP26ENSG00000134588ENST00000370832p.D596Dc.1788T>CSubstitution - coding silent
ENST00000399773p.P75Ac.223C>GSubstitution - Missense
USP4ENSG00000114316ENST00000265560p.M765Tc.2294T>CSubstitution - Missense
KRTAP9-8ENSG00000187272ENST00000254072p.H107Yc.319C>TSubstitution - Missense
PHLPP1ENSG00000081913ENST00000262719p.G1375Wc.4123G>TSubstitution - Missense
TAB3ENSG00000157625ENST00000378933p.H100Qc.300T>GSubstitution - Missense
SEMA5BENSG00000082684ENST00000357599p.P861Pc.2583G>TSubstitution - coding silent
BIN1ENSG00000136717ENST00000316724p.A246Vc.737C>TSubstitution - Missense
ZNF827ENSG00000151612ENST00000379448p.K580Kc.1740G>ASubstitution - coding silent
ANGPT1ENSG00000154188ENST00000297450p.I130Vc.388A>GSubstitution - Missense
ENST00000449000p.T198Tc.594C>TSubstitution - coding silent
CEP89ENSG00000121289ENST00000590597p.R305*c.913C>TSubstitution - Nonsense
HDDC3ENSG00000184508ENST00000394272p.?c.409+3A>GUnknown
RAP1GAPENSG00000076864ENST00000542643p.Q229Kc.685C>ASubstitution - Missense
DTNAENSG00000134769ENST00000269191p.N93Ic.278A>TSubstitution - Missense
STK17AENSG00000164543ENST00000319357p.R221*c.661C>TSubstitution - Nonsense
MYOCENSG00000034971ENST00000037502p.R470Cc.1408C>TSubstitution - Missense
NEK2ENSG00000117650ENST00000366999p.N66Kc.198C>ASubstitution - Missense
PYCR2ENSG00000143811ENST00000343818p.I91Ic.273C>TSubstitution - coding silent
GTPBP4ENSG00000107937ENST00000360803p.P197Pc.591C>GSubstitution - coding silent
VAV3ENSG00000134215ENST00000370056p.S604Pc.1810T>CSubstitution - Missense
WACENSG00000095787ENST00000354911p.R587Cc.1759C>TSubstitution - Missense
ENST00000355290p.W300Rc.898T>CSubstitution - Missense
NPIPB15ENSG00000196436ENST00000429990p.W361Rc.1081T>CSubstitution - Missense
CPS1ENSG00000021826ENST00000430249p.H1304Qc.3912T>ASubstitution - Missense
SPOPENSG00000121067ENST00000393328p.Q127Rc.380A>GSubstitution - Missense
SRRENSG00000167720ENST00000344595p.L280Lc.838C>TSubstitution - coding silent
HIST1H1EENSG00000168298ENST00000304218p.P9Pc.27C>TSubstitution - coding silent
NUP205ENSG00000155561ENST00000285968p.V1587Vc.4761C>TSubstitution - coding silent
ENST00000262719_v68p.G1375Wc.4123G>TSubstitution - Missense
CHN1ENSG00000128656ENST00000409900p.E49Ac.146A>CSubstitution - Missense
ENST00000287624p.F54Fc.162C>TSubstitution - coding silent
SCN11AENSG00000168356ENST00000302328p.P1559Pc.4677C>TSubstitution - coding silent
SEMA5BENSG00000082684ENST00000195173p.P860Pc.2580G>TSubstitution - coding silent
GOPCENSG00000047932ENST00000368498p.A215Pc.643G>CSubstitution - Missense
ENST00000316490p.?c.11982+10G>CUnknown
DNTTIP1ENSG00000101457ENST00000372622p.A266Dc.797C>ASubstitution - Missense
OR5L2ENSG00000205030ENST00000378397p.G265Vc.794G>TSubstitution - Missense
TRIM49BENSG00000182053ENST00000332682p.?c.866-2A>GUnknown
POM121ENSG00000196313ENST00000434423p.G953Rc.2857G>CSubstitution - Missense
MPDZENSG00000107186ENST00000319217p.D2011Yc.6031G>TSubstitution - Missense
OPRM1ENSG00000112038ENST00000435918p.P376Pc.1128C>ASubstitution - coding silent
DZIP1ENSG00000134874ENST00000347108p.S626Pc.1876T>CSubstitution - Missense
STYK1ENSG00000060140ENST00000075503p.I231Ic.693C>TSubstitution - coding silent
SH2D5ENSG00000189410ENST00000375031p.S163Sc.489G>TSubstitution - coding silent
PCLOENSG00000186472ENST00000333891p.?c.14791+10G>AUnknown
MICAL2ENSG00000133816ENST00000256194p.D687Hc.2059G>CSubstitution - Missense
GOLGA8MENSG00000188626ENST00000563027p.S553Fc.1658C>TSubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.R515Cc.1543C>TSubstitution - Missense
RP1ENSG00000104237ENST00000220676p.Q308*c.922C>TSubstitution - Nonsense
DTNAENSG00000134769ENST00000399121p.N93Ic.278A>TSubstitution - Missense
ENST00000436173p.D2592Nc.7774G>ASubstitution - Missense
KIAA1429ENSG00000164944ENST00000297591p.P1500Pc.4500A>GSubstitution - coding silent
GRIK1ENSG00000171189ENST00000399907p.F708Lc.2122T>CSubstitution - Missense
GRIK1ENSG00000171189ENST00000535441p.F710Lc.2128T>CSubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.?c.2575+5G>TUnknown
TIAM1ENSG00000156299ENST00000286827p.?c.2575+5G>TUnknown
ZNRF4ENSG00000105428ENST00000222033p.Y416Cc.1247A>GSubstitution - Missense
VASPENSG00000125753ENST00000245932p.I66Ic.198C>ASubstitution - coding silent
EPHA5ENSG00000145242ENST00000273854p.S235Yc.704C>ASubstitution - Missense
ARL4CENSG00000188042ENST00000339728p.D22Nc.64G>ASubstitution - Missense
SLITRK5ENSG00000165300ENST00000325089p.T303Tc.909G>ASubstitution - coding silent
ATN1ENSG00000111676ENST00000396684p.E844Kc.2530G>ASubstitution - Missense
FAM90A1ENSG00000171847ENST00000307435p.S431Tc.1291T>ASubstitution - Missense
MYRFENSG00000124920ENST00000327797p.Y302fs*13c.904_910delTACGTGGDeletion - Frameshift
DCLK1ENSG00000133083ENST00000255448p.P586Pc.1758A>GSubstitution - coding silent
NOS1ENSG00000089250ENST00000317775p.I47Ic.141T>ASubstitution - coding silent
GLIPR1L2ENSG00000180481ENST00000550916p.D47Dc.141C>TSubstitution - coding silent
ACOT11ENSG00000162390ENST00000343744p.A507Ac.1521G>ASubstitution - coding silent
ARID4AENSG00000032219ENST00000355431p.V938Vc.2814A>CSubstitution - coding silent
PTPN13ENSG00000163629ENST00000436978p.D507Ec.1521C>ASubstitution - Missense
CMTR1ENSG00000137200ENST00000373451p.V208Ic.622G>ASubstitution - Missense
PCDHGC4ENSG00000242419ENST00000306593p.R13Qc.38G>ASubstitution - Missense
ZNF566ENSG00000186017ENST00000434377p.K51Kc.153A>GSubstitution - coding silent
MAPKAP1ENSG00000119487ENST00000265960p.G63Gc.189C>ASubstitution - coding silent
DOCK2ENSG00000134516ENST00000256935p.S1755Rc.5263A>CSubstitution - Missense
SLC22A7ENSG00000137204ENST00000372585p.R398Hc.1193G>ASubstitution - Missense
OPA1ENSG00000198836ENST00000361510p.R71Hc.212G>ASubstitution - Missense
ESAMENSG00000149564ENST00000278927p.E240Gc.719A>GSubstitution - Missense
FADS1ENSG00000149485ENST00000350997p.P102Lc.305C>TSubstitution - Missense
OR10A3ENSG00000170683ENST00000360759p.I146Vc.436A>GSubstitution - Missense
UFM1ENSG00000120686ENST00000239878p.T30Tc.90A>GSubstitution - coding silent
RAPGEF3ENSG00000079337ENST00000449771p.A848Vc.2543C>TSubstitution - Missense
ENSG00000258664ENST00000553856p.W66Cc.198G>CSubstitution - Missense
HTR2CENSG00000147246ENST00000371951p.T205Tc.615G>ASubstitution - coding silent
DTNAENSG00000134769ENST00000444659p.N93Ic.278A>TSubstitution - Missense
DTNAENSG00000134769ENST00000554864p.N93Ic.278A>TSubstitution - Missense
LIASENSG00000121897ENST00000261434p.?c.883+9A>GUnknown
MBD1ENSG00000141644ENST00000382948p.?c.1446+2T>AUnknown
MBD1ENSG00000141644ENST00000269471p.?c.1377+2T>AUnknown
KLHL30ENSG00000168427ENST00000409223p.R421Qc.1262G>ASubstitution - Missense
PCDH11YENSG00000099715ENST00000215473p.E1087Kc.3259G>ASubstitution - Missense
CNTNAP1ENSG00000108797ENST00000264638p.?c.2753-7T>CUnknown
USP32ENSG00000170832ENST00000300896p.?c.4124-8G>AUnknown
EIF4G1ENSG00000114867ENST00000319274p.S576Sc.1728A>GSubstitution - coding silent
POMT1ENSG00000130714ENST00000372228p.H70Hc.210C>TSubstitution - coding silent
PPARGC1BENSG00000155846ENST00000394320p.E430Dc.1290G>CSubstitution - Missense
CCDC129ENSG00000180347ENST00000451887p.R193Ic.578G>TSubstitution - Missense
LRRC16BENSG00000186648ENST00000342740p.R858Wc.2572C>TSubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.P1714Pc.5142C>ASubstitution - coding silent
VIMENSG00000026025ENST00000544301p.G140Dc.419G>ASubstitution - Missense
PTCHD3ENSG00000182077ENST00000438700p.L693Rc.2078T>GSubstitution - Missense
PRDM16ENSG00000142611ENST00000270722p.A509Tc.1525G>ASubstitution - Missense
CIPCENSG00000198894ENST00000361786p.T81Tc.243T>ASubstitution - coding silent
TROVE2ENSG00000116747ENST00000367444p.K136*c.406A>TSubstitution - Nonsense
ADIPOR1ENSG00000159346ENST00000340990p.Y310*c.930C>ASubstitution - Nonsense
PEX11GENSG00000104883ENST00000221480p.L49Vc.145C>GSubstitution - Missense
ZBP1ENSG00000124256ENST00000541799p.D223Dc.669C>TSubstitution - coding silent
PHLPP1ENSG00000081913ENST00000400316p.G862Wc.2584G>TSubstitution - Missense
MYH15ENSG00000144821ENST00000273353p.R1146Kc.3437G>ASubstitution - Missense
OPRM1ENSG00000112038ENST00000360422p.P376Pc.1128C>ASubstitution - coding silent
PCBP1ENSG00000169564ENST00000303577p.Y183*c.549C>GSubstitution - Nonsense
EYSENSG00000188107ENST00000370621p.C228*c.684C>ASubstitution - Nonsense
FBXO11ENSG00000138081ENST00000402508p.C804Rc.2410T>CSubstitution - Missense
IGIPENSG00000182700ENST00000333305p.Q50Qc.150A>GSubstitution - coding silent
FAM13BENSG00000031003ENST00000033079p.M380Vc.1138A>GSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.T2791Tc.8373C>ASubstitution - coding silent
ENST00000328281p.T54Tc.162A>CSubstitution - coding silent
GPC6ENSG00000183098ENST00000377047p.Q462Rc.1385A>GSubstitution - Missense
ENST00000458043_v65p.G1654Rc.4960G>ASubstitution - Missense
KIAA1199ENSG00000103888ENST00000356249p.H767Qc.2301C>GSubstitution - Missense
YLPM1ENSG00000119596ENST00000238571p.Q739Rc.2216A>GSubstitution - Missense
GLIPR1L2ENSG00000180481ENST00000320460p.D47Dc.141C>TSubstitution - coding silent
ACOT11ENSG00000162390ENST00000371316p.A507Ac.1521G>ASubstitution - coding silent
LRRC7ENSG00000033122ENST00000035383p.W485Lc.1454G>TSubstitution - Missense
ZNF121ENSG00000197961ENST00000320451p.N378Sc.1133A>GSubstitution - Missense
SALL4ENSG00000101115ENST00000217086p.A368Ac.1104G>ASubstitution - coding silent
SLC6A4ENSG00000108576ENST00000261707p.A594Ac.1782T>CSubstitution - coding silent
UQCRBENSG00000156467ENST00000287022p.?c.19+1G>AUnknown
ENST00000399773_v68p.P75Ac.223C>GSubstitution - Missense
KRT24ENSG00000167916ENST00000264651p.D433Nc.1297G>ASubstitution - Missense
TERF1ENSG00000147601ENST00000276602p.C15Gc.43T>GSubstitution - Missense
PTPRAENSG00000132670ENST00000380393p.L34Fc.102A>TSubstitution - Missense
DZIP3ENSG00000198919ENST00000361582p.Q798Qc.2394A>GSubstitution - coding silent
SLC9A3R1ENSG00000109062ENST00000262613p.?c.604-6C>GUnknown
ENSG00000228259ENST00000425471p.S103Pc.307T>CSubstitution - Missense
OPRM1ENSG00000112038ENST00000434900p.P469Pc.1407C>ASubstitution - coding silent
TTLL12ENSG00000100304ENST00000216129p.E530Qc.1588G>CSubstitution - Missense
NM_133482.1p.C542Fc.1625G>TSubstitution - Missense
PREX1ENSG00000124126ENST00000371941p.S235Cc.704C>GSubstitution - Missense
CCDC129ENSG00000180347ENST00000407970p.R167Ic.500G>TSubstitution - Missense
OPRM1ENSG00000112038ENST00000419506p.P376Pc.1128C>ASubstitution - coding silent
RPL18AENSG00000105640ENST00000222247p.R83Hc.248G>ASubstitution - Missense
LRRC39ENSG00000122477ENST00000370137p.L136fs*16c.405_406insGATTInsertion - Frameshift
ITIH2ENSG00000151655ENST00000358415p.V413Ic.1237G>ASubstitution - Missense
LDHBENSG00000111716ENST00000396076p.?c.130-8G>AUnknown
GUCY1A2ENSG00000152402ENST00000526355p.G650Vc.1949G>TSubstitution - Missense
RHPN2ENSG00000131941ENST00000400226p.I280Mc.840T>GSubstitution - Missense
BTG2ENSG00000159388ENST00000475157p.P127Pc.381A>CSubstitution - coding silent
SLC30A2ENSG00000158014ENST00000374276p.D360Dc.1080C>TSubstitution - coding silent
PHF6ENSG00000156531ENST00000332070p.R116*c.346C>TSubstitution - Nonsense
APOBENSG00000084674ENST00000233242p.L3931Fc.11793G>TSubstitution - Missense
POLD1ENSG00000062822ENST00000440232p.Y701Yc.2103C>TSubstitution - coding silent
MYOCDENSG00000141052ENST00000343344p.K264Nc.792A>CSubstitution - Missense
MSRAENSG00000175806ENST00000317173p.R6Rc.18G>CSubstitution - coding silent
DTNAENSG00000134769ENST00000269190p.N93Ic.278A>TSubstitution - Missense
FAM192AENSG00000172775ENST00000309137p.P45Sc.133C>TSubstitution - Missense
LHFPL4ENSG00000156959ENST00000287585p.Y64Hc.190T>CSubstitution - Missense
ENST00000333535_v68p.N291Tc.872A>CSubstitution - Missense
CYP2D6ENSG00000100197ENST00000360608p.V229Ic.685G>ASubstitution - Missense
APOBRENSG00000184730ENST00000328423p.R261Rc.783G>ASubstitution - coding silent
RNF20ENSG00000155827ENST00000389120p.E33*c.97G>TSubstitution - Nonsense
CNTNAP2ENSG00000174469ENST00000361727p.R1195Tc.3584G>CSubstitution - Missense
PREX1ENSG00000124126ENST00000396220p.S235Cc.704C>GSubstitution - Missense
C5ENSG00000106804ENST00000223642p.K1628Kc.4884A>GSubstitution - coding silent
EFEMP2ENSG00000172638ENST00000307998p.A86Ac.258C>TSubstitution - coding silent
ARID4AENSG00000032219ENST00000355431p.V938Vc.2814A>CSubstitution - coding silent
NPIPB15ENSG00000196436ENST00000429990p.V363Ac.1088T>CSubstitution - Missense
ISM1ENSG00000101230ENST00000262487p.R170Kc.509G>ASubstitution - Missense
RGS9BPENSG00000186326ENST00000334176p.T16fs*10c.47delCDeletion - Frameshift
KRTAP10-4ENSG00000215454ENST00000400374p.P44Lc.131C>TSubstitution - Missense
TEX261ENSG00000144043ENST00000272438p.S182Sc.546C>GSubstitution - coding silent
PAX8ENSG00000125618ENST00000429538p.V335Vc.1005C>TSubstitution - coding silent
TRDNENSG00000186439ENST00000398178p.P492Rc.1475C>GSubstitution - Missense
ACLYENSG00000131473ENST00000352035p.?c.537-9C>TUnknown
ZNF827ENSG00000151612ENST00000379448p.K580Kc.1740G>ASubstitution - coding silent
SPINK9ENSG00000204909ENST00000377906p.T26Tc.78G>ASubstitution - coding silent
OR2A14ENSG00000221938ENST00000408899p.T100Ac.298A>GSubstitution - Missense
PSG4ENSG00000243137ENST00000244295p.W67*c.200G>ASubstitution - Nonsense
SLC22A7ENSG00000137204ENST00000372574p.R396Hc.1187G>ASubstitution - Missense
TENM2ENSG00000145934ENST00000545108p.T2343Pc.7027A>CSubstitution - Missense
ZBP1ENSG00000124256ENST00000343535p.D223Dc.669C>TSubstitution - coding silent
RAP1GAPENSG00000076864ENST00000374765p.Q229Kc.685C>ASubstitution - Missense
HSPG2ENSG00000142798ENST00000374695p.R3851Wc.11551C>TSubstitution - Missense
C2CD3ENSG00000168014ENST00000334126p.?c.5496-6_5499>GACAAAAGAUnknown
NM_175736.3p.R712Hc.2135G>ASubstitution - Missense
OR8S1ENSG00000197376ENST00000310194p.K236Kc.708G>ASubstitution - coding silent
SESN3ENSG00000149212ENST00000536441p.E87Qc.259G>CSubstitution - Missense
ENST00000336486p.L653Pc.1958T>CSubstitution - Missense
TMEM106CENSG00000134291ENST00000552561p.R80Rc.240C>TSubstitution - coding silent
ENST00000265870p.A98Ac.294A>CSubstitution - coding silent
YLPM1ENSG00000119596ENST00000325680p.Q934Rc.2801A>GSubstitution - Missense
SLC2A1ENSG00000117394ENST00000415851p.L158Fc.472C>TSubstitution - Missense
ENST00000355290p.V302Ac.905T>CSubstitution - Missense
DNAI1ENSG00000122735ENST00000242317p.S159Nc.476G>ASubstitution - Missense
ERAL1ENSG00000132591ENST00000254928p.K242Rc.725A>GSubstitution - Missense
HGFACENSG00000109758ENST00000382774p.P454Tc.1360C>ASubstitution - Missense
SLC35E4ENSG00000100036ENST00000343605p.A233Tc.697G>ASubstitution - Missense
ENST00000425471_v68p.S103Pc.307T>CSubstitution - Missense
SCN5AENSG00000183873ENST00000413689p.N291Tc.872A>CSubstitution - Missense
NHEJ1ENSG00000187736ENST00000409720p.P316Tc.946C>ASubstitution - Missense
PDE8BENSG00000113231ENST00000264917p.R414Kc.1241G>ASubstitution - Missense
GPR98ENSG00000164199ENST00000405460p.?c.16611+2T>AUnknown
ENST00000231589p.V66Lc.196G>CSubstitution - Missense
PSG1ENSG00000231924ENST00000244296p.T198Tc.594C>TSubstitution - coding silent
ZNF566ENSG00000186017ENST00000454319p.K52Kc.156A>GSubstitution - coding silent
ENST00000312652p.V651Ac.1952T>CSubstitution - Missense
ARAP1ENSG00000186635ENST00000334211p.A284Tc.850G>ASubstitution - Missense
ATP8B2ENSG00000143515ENST00000368489p.T765Ic.2294C>TSubstitution - Missense
SYTL2ENSG00000137501ENST00000316356p.I242Vc.724A>GSubstitution - Missense
HMGN1ENSG00000205581ENST00000361263p.T150fs*6c.448_451delACTGDeletion - Frameshift
ENST00000273600p.G333Rc.997G>ASubstitution - Missense
RASSF1ENSG00000068028ENST00000357043p.V295Ac.884T>CSubstitution - Missense
ZNF468ENSG00000204604ENST00000243639p.G477Dc.1430G>ASubstitution - Missense
HIRAENSG00000100084ENST00000263208p.P296Pc.888G>ASubstitution - coding silent
SLX4ENSG00000188827ENST00000294008p.R1584Rc.4752C>TSubstitution - coding silent
CROTENSG00000005469ENST00000331536p.?c.656+10C>GUnknown
NMBRENSG00000135577ENST00000258042p.T238Nc.713C>ASubstitution - Missense
CYP2D6ENSG00000100197ENST00000359033p.V178Ic.532G>ASubstitution - Missense
SEZ6L2ENSG00000174938ENST00000350527p.S611Sc.1833C>GSubstitution - coding silent
OPHN1ENSG00000079482ENST00000355520p.R454Mc.1361G>TSubstitution - Missense
ENST00000231589p.K64Nc.192A>TSubstitution - Missense
STOX2ENSG00000173320ENST00000308497p.S208Gc.622A>GSubstitution - Missense
GUCY1A2ENSG00000152402ENST00000282249p.G681Vc.2042G>TSubstitution - Missense
CACNA1IENSG00000100346ENST00000336649p.I1577Ic.4731C>TSubstitution - coding silent
OR5AR1ENSG00000172459ENST00000302969p.I221Mc.663C>GSubstitution - Missense
COL20A1ENSG00000101203ENST00000422202p.Y258*c.774C>ASubstitution - Nonsense
PDE4AENSG00000065989ENST00000380702p.R120Hc.359G>ASubstitution - Missense
PCDHB3ENSG00000113205ENST00000231130p.T213Tc.639C>TSubstitution - coding silent
UFM1ENSG00000120686ENST00000379641p.T48Tc.144A>GSubstitution - coding silent
DOK7ENSG00000175920ENST00000389653p.P301Pc.903A>CSubstitution - coding silent
BIRC6ENSG00000115760ENST00000421745p.V1389Ic.4165G>ASubstitution - Missense
AGPAT6ENSG00000158669ENST00000396987p.?c.1182+1G>CUnknown
SYNE1ENSG00000131018ENST00000265368p.?c.11083-2A>TUnknown
MAP1BENSG00000131711ENST00000296755p.P2164Pc.6492G>ASubstitution - coding silent
FKBP15ENSG00000119321ENST00000238256p.P491Ac.1471C>GSubstitution - Missense
SCAIENSG00000173611ENST00000373549p.L302Vc.904C>GSubstitution - Missense
OPRM1ENSG00000112038ENST00000414028p.P376Pc.1128C>ASubstitution - coding silent
ARAP1ENSG00000186635ENST00000393609p.A529Tc.1585G>ASubstitution - Missense
KMT2DENSG00000167548ENST00000301067p.P1984Pc.5952C>ASubstitution - coding silent
DCLK1ENSG00000133083ENST00000379893p.P279Pc.837A>GSubstitution - coding silent
CHD2ENSG00000173575ENST00000394196p.P1614Lc.4841C>TSubstitution - Missense
EIF4G2ENSG00000110321ENST00000339995p.P311Rc.932C>GSubstitution - Missense
HNRNPMENSG00000099783ENST00000325495p.A129Vc.386C>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.?c.11038-2A>TUnknown
CMYA5ENSG00000164309ENST00000446378p.E3306Ec.9918A>GSubstitution - coding silent
TRIOBPENSG00000100106ENST00000407319p.K420Kc.1260G>ASubstitution - coding silent
CACNA1IENSG00000100346ENST00000402142p.I1571Ic.4713C>TSubstitution - coding silent
TPSB2ENSG00000197253ENST00000430512p.G225Vc.674G>TSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.?c.10996-2A>TUnknown
TP53ENSG00000141510ENST00000455263p.C238Yc.713G>ASubstitution - Missense
DENND4BENSG00000198837ENST00000361217p.R403Cc.1207C>TSubstitution - Missense
KIAA1024ENSG00000169330ENST00000305428p.S202Pc.604T>CSubstitution - Missense
MYO7AENSG00000137474ENST00000409709p.C1326Cc.3978C>TSubstitution - coding silent
NCOR2ENSG00000196498ENST00000405201p.V214Mc.640G>ASubstitution - Missense
GRM5ENSG00000168959ENST00000305432p.P1151Lc.3452C>TSubstitution - Missense
RYR3ENSG00000198838ENST00000389232p.V3227Vc.9681C>GSubstitution - coding silent
MBD1ENSG00000141644ENST00000339998p.?c.1446+2T>AUnknown
TTC28ENSG00000100154ENST00000397906p.Q2355Kc.7063C>ASubstitution - Missense
SULT1C4ENSG00000198075ENST00000272452p.G24Ec.71G>ASubstitution - Missense
EVX1ENSG00000106038ENST00000496902p.V150Vc.450C>ASubstitution - coding silent
ZNF680ENSG00000173041ENST00000309683p.E515Dc.1545G>CSubstitution - Missense
SMEK2ENSG00000138041ENST00000272313p.K357Ec.1069A>GSubstitution - Missense
RAB3GAP1ENSG00000115839ENST00000264158p.E13Kc.37G>ASubstitution - Missense
CLGNENSG00000153132ENST00000325617p.V257Vc.771G>CSubstitution - coding silent
ADNP2ENSG00000101544ENST00000262198p.G816Dc.2447G>ASubstitution - Missense
BRD1ENSG00000100425ENST00000216267p.N101Tc.302A>CSubstitution - Missense
WNK3ENSG00000196632ENST00000354646p.R548Rc.1642A>CSubstitution - coding silent
PPARGC1BENSG00000155846ENST00000309241p.E430Dc.1290G>CSubstitution - Missense
ZNF862ENSG00000106479ENST00000223210p.N971Kc.2913C>ASubstitution - Missense
FAM84AENSG00000162981ENST00000295092p.S38Sc.114G>ASubstitution - coding silent
TRIM34ENSG00000258659ENST00000514226p.R372Cc.1114C>TSubstitution - Missense
GOPCENSG00000047932ENST00000535237p.A215Pc.643G>CSubstitution - Missense
GOPCENSG00000047932ENST00000535237p.H134Rc.401A>GSubstitution - Missense
ENST00000545858p.C145Yc.434G>ASubstitution - Missense
PTPN14ENSG00000152104ENST00000366956p.A433Vc.1298C>TSubstitution - Missense
WNT10BENSG00000169884ENST00000301061p.C344Gc.1030T>GSubstitution - Missense
DCLK1ENSG00000133083ENST00000255448p.P586Pc.1758A>GSubstitution - coding silent
BCL9ENSG00000116128ENST00000234739p.S655Rc.1965C>ASubstitution - Missense
LIG4ENSG00000174405ENST00000405925p.G446Ac.1337G>CSubstitution - Missense
ENST00000436173p.L1273Lc.3819G>TSubstitution - coding silent
RNPEPL1ENSG00000142327ENST00000270357p.G428Dc.1283G>ASubstitution - Missense
SCN5AENSG00000183873ENST00000333535p.N291Tc.872A>CSubstitution - Missense
RGPD3ENSG00000153165ENST00000409886p.F1358Fc.4074T>CSubstitution - coding silent
DNAH11ENSG00000105877ENST00000328843p.R344Tc.1031G>CSubstitution - Missense
NSUN5ENSG00000130305ENST00000438747p.P399Lc.1196C>TSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.Y4164Nc.12490T>ASubstitution - Missense
LRRC27ENSG00000148814ENST00000432555p.D273Nc.817G>ASubstitution - Missense
CACNA1IENSG00000100346ENST00000400164p.I1536Ic.4608C>TSubstitution - coding silent
APOBRENSG00000184730ENST00000564831p.R261Rc.783G>ASubstitution - coding silent
DZIP1ENSG00000134874ENST00000361396p.S607Pc.1819T>CSubstitution - Missense
C12orf4ENSG00000047621ENST00000261250p.P31Sc.91C>TSubstitution - Missense
HDDC3ENSG00000184508ENST00000330334p.?c.409+3A>GUnknown
FLAD1ENSG00000160688ENST00000292180p.R530Hc.1589G>ASubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.S808Yc.2423C>ASubstitution - Missense
FAM135BENSG00000147724ENST00000395297p.S808Yc.2423C>ASubstitution - Missense
PAPPAENSG00000182752ENST00000328252p.R408Hc.1223G>ASubstitution - Missense
ZBTB34ENSG00000177125ENST00000373452p.L31Lc.93A>GSubstitution - coding silent
MAPKAP1ENSG00000119487ENST00000350766p.G63Gc.189C>ASubstitution - coding silent
FAM73BENSG00000148343ENST00000358369p.Y344Yc.1032C>TSubstitution - coding silent
MPDZENSG00000107186ENST00000541718p.D1982Yc.5944G>TSubstitution - Missense
NM_003829.1p.D1983Yc.5947G>TSubstitution - Missense
ADIPOQENSG00000181092ENST00000320741p.Y143Cc.428A>GSubstitution - Missense
IL1RAPENSG00000196083ENST00000443369p.A61Vc.182C>TSubstitution - Missense
IL1RAPENSG00000196083ENST00000072516p.A61Vc.182C>TSubstitution - Missense
IL1RAPENSG00000196083ENST00000443369p.R277Cc.829C>TSubstitution - Missense
IL1RAPENSG00000196083ENST00000072516p.R277Cc.829C>TSubstitution - Missense
MFAP3LENSG00000198948ENST00000361618p.P244Pc.732G>ASubstitution - coding silent
RARSENSG00000113643ENST00000231572p.K192Tc.575A>CSubstitution - Missense
TENM2ENSG00000145934ENST00000518659p.T2344Pc.7030A>CSubstitution - Missense
TENM2ENSG00000145934ENST00000519204p.T2223Pc.6667A>CSubstitution - Missense
ENST00000388903p.T2177Pc.6529A>CSubstitution - Missense
SH3PXD2BENSG00000174705ENST00000311601p.G828Wc.2482G>TSubstitution - Missense
DOCK2ENSG00000134516ENST00000256935p.S1757Pc.5269T>CSubstitution - Missense
DDX41ENSG00000183258ENST00000507955p.V391Vc.1173A>GSubstitution - coding silent
NNTENSG00000112992ENST00000264663p.I534Ic.1602C>TSubstitution - coding silent
ELOVL7ENSG00000164181ENST00000508821p.Q198Qc.594G>ASubstitution - coding silent
C4AENSG00000244731ENST00000428956p.?c.3505-8T>CUnknown
C4AENSG00000244731ENST00000428956p.?c.3505-8T>CUnknown
TP53ENSG00000141510ENST00000420246p.C238Yc.713G>ASubstitution - Missense
FAM83BENSG00000168143ENST00000306858p.L406Pc.1217T>CSubstitution - Missense
MED16ENSG00000175221ENST00000312090p.F624Fc.1872C>TSubstitution - coding silent
ENST00000455773p.H235Rc.704A>GSubstitution - Missense
PHF6ENSG00000156531ENST00000370800p.R116*c.346C>TSubstitution - Nonsense
LRRC27ENSG00000148814ENST00000368610p.D338Nc.1012G>ASubstitution - Missense
ESAMENSG00000149564ENST00000442070p.E61Gc.182A>GSubstitution - Missense
OR51J1ENSG00000184321ENST00000332043p.Y220Hc.658T>CSubstitution - Missense
ENST00000337072p.R726Cc.2176C>TSubstitution - Missense
SESN3ENSG00000149212ENST00000416495p.E87Qc.259G>CSubstitution - Missense
GLIPR1L2ENSG00000180481ENST00000378689p.D47Dc.141C>TSubstitution - coding silent
ENST00000401014p.Q47Hc.141G>TSubstitution - Missense
TROVE2ENSG00000116747ENST00000367446p.K136*c.406A>TSubstitution - Nonsense
ENST00000371178p.G8Vc.23G>TSubstitution - Missense
RORAENSG00000069667ENST00000449337p.E459*c.1375G>TSubstitution - Nonsense
ENST00000395988p.K168Nc.504A>CSubstitution - Missense
SUZ12ENSG00000178691ENST00000322652p.?c.274+8T>CUnknown
SEZ6ENSG00000063015ENST00000360295p.R630Hc.1889G>ASubstitution - Missense
SRSF1ENSG00000136450ENST00000582730p.E143Ec.429A>GSubstitution - coding silent
PSG1ENSG00000231924ENST00000436291p.T198Tc.594C>TSubstitution - coding silent
PSG1ENSG00000231924ENST00000595356p.T198Tc.594C>TSubstitution - coding silent
CTNNA2ENSG00000066032ENST00000361291p.A286Ac.858C>ASubstitution - coding silent
ATXN3ENSG00000066427ENST00000532032p.Q305_G306insQQQQQQQc.912_913ins21Insertion - In frame
ATXN3ENSG00000066427ENST00000429774p.Q298_G299insQQQQQQQc.891_892ins21Insertion - In frame
SLITRK5ENSG00000165300ENST00000400028p.T62Tc.186G>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000448038p.?c.11038-2A>TUnknown
ENST00000328843_v70p.R344Tc.1031G>CSubstitution - Missense
PCLOENSG00000186472ENST00000423517p.R4934Hc.14801G>ASubstitution - Missense
ADAM28ENSG00000042980ENST00000437154p.A15Sc.43G>TSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.C238Yc.713G>ASubstitution - Missense
ENST00000377560_v62p.R2275Qc.6824G>ASubstitution - Missense
EIF4G3ENSG00000075151ENST00000264211p.E1167Ec.3501A>GSubstitution - coding silent
SLC15A3ENSG00000110446ENST00000227880p.Q311Hc.933G>TSubstitution - Missense
KRTAP5-7ENSG00000244411ENST00000398536p.S69Sc.207C>TSubstitution - coding silent
FBXO42ENSG00000037637ENST00000375592p.?c.502+4A>CUnknown
E2F8ENSG00000129173ENST00000250024p.I398Nc.1193T>ASubstitution - Missense
ALDH4A1ENSG00000159423ENST00000290597p.S359Sc.1077G>CSubstitution - coding silent
SNRNP200ENSG00000144028ENST00000323853p.I1846Ic.5538C>TSubstitution - coding silent
ATP8A1ENSG00000124406ENST00000264449p.R743Pc.2228G>CSubstitution - Missense
SEMA5BENSG00000082684ENST00000451055p.P915Pc.2745G>TSubstitution - coding silent
C5orf49ENSG00000215217ENST00000399810p.R115Wc.343C>TSubstitution - Missense
MAPK14ENSG00000112062ENST00000229795p.V102Vc.306G>CSubstitution - coding silent
MAPK14ENSG00000112062ENST00000229794p.V102Vc.306G>CSubstitution - coding silent
ENST00000238522p.E3306Ec.9918A>GSubstitution - coding silent
NYAP1ENSG00000166924ENST00000300179p.P182Lc.545C>TSubstitution - Missense
RABL5ENSG00000128581ENST00000315322p.K131Rc.392A>GSubstitution - Missense
POM121ENSG00000196313ENST00000257622p.G688Rc.2062G>CSubstitution - Missense
POM121ENSG00000196313ENST00000395270p.G688Rc.2062G>CSubstitution - Missense
RFC2ENSG00000049541ENST00000055077p.M158Tc.473T>CSubstitution - Missense
NSUN5ENSG00000130305ENST00000252594p.P399Lc.1196C>TSubstitution - Missense
HAUS6ENSG00000147874ENST00000380502p.I659Fc.1975A>TSubstitution - Missense
ZC3H4ENSG00000130749ENST00000253048p.R1278Rc.3834C>ASubstitution - coding silent
SEZ6L2ENSG00000174938ENST00000308713p.S681Sc.2043C>GSubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.C516Wc.1548C>GSubstitution - Missense
FBLN2ENSG00000163520ENST00000492059p.P1049Ac.3145C>GSubstitution - Missense
ELMOD2ENSG00000179387ENST00000323570p.L22Lc.64T>CSubstitution - coding silent
STOX2ENSG00000173320ENST00000308497p.S232Gc.694A>GSubstitution - Missense
CACNA1IENSG00000100346ENST00000404898p.I1536Ic.4608C>TSubstitution - coding silent
CACNA1IENSG00000100346ENST00000336649p.P527Tc.1579C>ASubstitution - Missense
GOPCENSG00000047932ENST00000368498p.H134Rc.401A>GSubstitution - Missense
DSTENSG00000151914ENST00000244364p.S2331Sc.6993C>TSubstitution - coding silent
DSTENSG00000151914ENST00000370769p.S4745Sc.14235C>TSubstitution - coding silent
EYSENSG00000188107ENST00000342421p.C228*c.684C>ASubstitution - Nonsense
COL14A1ENSG00000187955ENST00000297848p.R283Rc.849T>CSubstitution - coding silent
FKBP15ENSG00000119321ENST00000446284p.P516Ac.1546C>GSubstitution - Missense
FBXO11ENSG00000138081ENST00000403359p.C888Rc.2662T>CSubstitution - Missense
LRPPRCENSG00000138095ENST00000260665p.T476Tc.1428A>TSubstitution - coding silent
PPP1R21ENSG00000162869ENST00000294952p.R558Qc.1673G>ASubstitution - Missense
PPP1R21ENSG00000162869ENST00000281394p.R558Qc.1673G>ASubstitution - Missense
KAT2AENSG00000108773ENST00000225916p.?c.1764+7G>TUnknown
SRSF1ENSG00000136450ENST00000258962p.E143Ec.429A>GSubstitution - coding silent
ENSG00000272333ENST00000222270p.L1534Wc.4601T>GSubstitution - Missense
RBM27ENSG00000091009ENST00000265271p.G113Sc.337G>ASubstitution - Missense
SLC2A6ENSG00000160326ENST00000371899p.F467Fc.1401C>TSubstitution - coding silent
PPP1R26ENSG00000196422ENST00000356818p.C558Fc.1673G>TSubstitution - Missense
IFNL2ENSG00000183709ENST00000331982p.A63Ac.189C>TSubstitution - coding silent
DYRK1BENSG00000105204ENST00000593685p.R551Hc.1652G>ASubstitution - Missense
DYRK1BENSG00000105204ENST00000348817p.R523Hc.1568G>ASubstitution - Missense
CCDC129ENSG00000180347ENST00000319386p.R167Ic.500G>TSubstitution - Missense
FAM13BENSG00000031003ENST00000425075p.M262Vc.784A>GSubstitution - Missense
PRRC2AENSG00000204469ENST00000376033p.P511Pc.1533A>TSubstitution - coding silent
ENST00000376051p.E63Gc.188A>GSubstitution - Missense
METENSG00000105976ENST00000318493p.L530Vc.1588C>GSubstitution - Missense
OR2F2ENSG00000221910ENST00000408955p.S18Tc.52T>ASubstitution - Missense
RP1L1ENSG00000183638ENST00000382483p.S213Nc.638G>ASubstitution - Missense
KLF10ENSG00000155090ENST00000285407p.L92Fc.276G>CSubstitution - Missense
ENST00000316490_v65p.H3310Nc.9928C>ASubstitution - Missense
ENST00000316490p.H3262Nc.9784C>ASubstitution - Missense
ENST00000316490_v65p.?c.12126+10G>CUnknown
CIB3ENSG00000141977ENST00000269878p.L140fs*1c.412delGDeletion - Frameshift
CYP4F12ENSG00000186204ENST00000324632p.E357Vc.1070A>TSubstitution - Missense
SIN3BENSG00000127511ENST00000379803p.E499Ec.1497G>ASubstitution - coding silent
PSG4ENSG00000243137ENST00000405312p.W67*c.200G>ASubstitution - Nonsense
PSG2ENSG00000242221ENST00000406487p.S296Rc.888C>ASubstitution - Missense
PSG1ENSG00000231924ENST00000312439p.T198Tc.594C>TSubstitution - coding silent
FSD1ENSG00000105255ENST00000221856p.P364Pc.1092G>ASubstitution - coding silent
UBXN6ENSG00000167671ENST00000301281p.Q278Qc.834G>ASubstitution - coding silent
RNF32ENSG00000105982ENST00000432459p.L209Mc.625C>ASubstitution - Missense
RNF32ENSG00000105982ENST00000343665p.L185Mc.553C>ASubstitution - Missense
RNF32ENSG00000105982ENST00000311822p.L209Mc.625C>ASubstitution - Missense
ENST00000400460p.R252Tc.755G>CSubstitution - Missense
GGT1ENSG00000100031ENST00000400380p.?c.1337-4G>AUnknown
PRAMEENSG00000185686ENST00000398741p.S137Sc.411T>CSubstitution - coding silent
GNA13ENSG00000120063ENST00000439174p.F252Sc.755T>CSubstitution - Missense
SEBOX,VTNENSG00000109072ENST00000226218p.R270Qc.809G>ASubstitution - Missense
SEZ6ENSG00000063015ENST00000317338p.R630Hc.1889G>ASubstitution - Missense
KCNAB3ENSG00000170049ENST00000303790p.L260Vc.778C>GSubstitution - Missense
AZI1ENSG00000141577ENST00000450824p.A906Ac.2718C>TSubstitution - coding silent
AZI1ENSG00000141577ENST00000374782p.A870Ac.2610C>TSubstitution - coding silent
NPTX1ENSG00000171246ENST00000306773p.?c.445-4G>AUnknown
DTNAENSG00000134769ENST00000315456p.N93Ic.278A>TSubstitution - Missense
ENST00000554864_v68p.N93Ic.278A>TSubstitution - Missense
FHOD3ENSG00000134775ENST00000257209p.E190Gc.569A>GSubstitution - Missense
SMARCA4ENSG00000127616ENST00000429416p.E1255_E1258delEQDEc.3760_3771del12Deletion - In frame
PDE4AENSG00000065989ENST00000352831p.R142Hc.425G>ASubstitution - Missense
PDE4AENSG00000065989ENST00000293683p.R116Hc.347G>ASubstitution - Missense
PDE4AENSG00000065989ENST00000440014p.R81Hc.242G>ASubstitution - Missense
SMARCA4ENSG00000127616ENST00000358026p.E1255_E1258delEQDEc.3760_3771del12Deletion - In frame
C21orf67ENSG00000183250ENST00000397841p.A162Vc.485C>TSubstitution - Missense
NM_032217.3p.A2356Sc.7066G>TSubstitution - Missense
GRIK1ENSG00000171189ENST00000389125p.F693Lc.2077T>CSubstitution - Missense
LTN1ENSG00000198862ENST00000361371p.P962Sc.2884C>TSubstitution - Missense
DOK7ENSG00000175920ENST00000340083p.P301Pc.903A>CSubstitution - coding silent
ATP8A1ENSG00000124406ENST00000381668p.R758Pc.2273G>CSubstitution - Missense
RASSF1ENSG00000068028ENST00000327761p.V221Ac.662T>CSubstitution - Missense
LAMB2ENSG00000172037ENST00000305544p.L640Vc.1918C>GSubstitution - Missense
DNAH1ENSG00000114841ENST00000420323p.G333Rc.997G>ASubstitution - Missense
SAMD9LENSG00000177409ENST00000318238p.E125*c.373G>TSubstitution - Nonsense
C7orf63ENSG00000105792ENST00000389297p.?c.1034-10T>CUnknown
C7orf63ENSG00000105792ENST00000316089p.?c.1034-10T>CUnknown
DYNC1I1ENSG00000158560ENST00000324972p.R161Gc.481A>GSubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.P649Lc.1946C>TSubstitution - Missense
SCRIBENSG00000180900ENST00000356994p.P649Lc.1946C>TSubstitution - Missense
PDGFRLENSG00000104213ENST00000251630p.E239Dc.717G>TSubstitution - Missense
TUSC3ENSG00000104723ENST00000382020p.A179Ac.537A>TSubstitution - coding silent
MBD1ENSG00000141644ENST00000457839p.?c.1521+2T>AUnknown
ROCK1ENSG00000067900ENST00000399799p.Q838Ec.2512C>GSubstitution - Missense
FOXS1ENSG00000179772ENST00000375978p.S153Sc.459A>TSubstitution - coding silent
C20orf112ENSG00000197183ENST00000359676p.S244Sc.732C>TSubstitution - coding silent
PUM2ENSG00000055917ENST00000338086p.Q404Hc.1212G>CSubstitution - Missense
ZNF808ENSG00000198482ENST00000359798p.R887Qc.2660G>ASubstitution - Missense
TFPTENSG00000105619ENST00000391759p.H35Dc.103C>GSubstitution - Missense
COL20A1ENSG00000101203ENST00000326996p.Y251*c.753C>ASubstitution - Nonsense
COL20A1ENSG00000101203ENST00000358894p.Y251*c.753C>ASubstitution - Nonsense
BIRC6ENSG00000115760ENST00000421745p.V1389Ic.4165G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T3551Tc.10653C>GSubstitution - coding silent
ENST00000405167p.T3551Tc.10653C>GSubstitution - coding silent
DNAJB14ENSG00000164031ENST00000442697p.K10*c.28A>TSubstitution - Nonsense
KIF19ENSG00000196169ENST00000389916p.R305Qc.914G>ASubstitution - Missense
ARSAENSG00000100299ENST00000395619p.S188Fc.563C>TSubstitution - Missense
RGPD3ENSG00000153165ENST00000409886p.F1358Fc.4074T>CSubstitution - coding silent
RANBP2ENSG00000153201ENST00000283195p.S1140Lc.3419C>TSubstitution - Missense
UNC5CENSG00000182168ENST00000453304p.T814Ic.2441C>TSubstitution - Missense
EXOC6BENSG00000144036ENST00000272427p.?c.999+5G>AUnknown
CTNNA2ENSG00000066032ENST00000466387p.A252Ac.756C>ASubstitution - coding silent
NM_004389.1p.A252Ac.756C>ASubstitution - coding silent
DNAH6ENSG00000115423ENST00000237449p.A3560Sc.10678G>TSubstitution - Missense
C4orf21ENSG00000138658ENST00000505019p.?c.4697+9T>CUnknown
ENSG00000228259ENST00000418535p.S103Pc.307T>CSubstitution - Missense
CDH12ENSG00000154162ENST00000382254p.V13Lc.37G>CSubstitution - Missense
OPRM1ENSG00000112038ENST00000229768p.P376Pc.1128C>ASubstitution - coding silent
SYNE1ENSG00000131018ENST00000265368p.?c.11083-2A>TUnknown
BIN1ENSG00000136717ENST00000259238p.A215Vc.644C>TSubstitution - Missense
ARL4CENSG00000188042ENST00000390645p.D22Nc.64G>ASubstitution - Missense
KLHL30ENSG00000168427ENST00000409223p.R421Qc.1262G>ASubstitution - Missense
SMEK2ENSG00000138041ENST00000345102p.K357Ec.1069A>GSubstitution - Missense
RAB1AENSG00000138069ENST00000409784p.S3Nc.8G>ASubstitution - Missense
MYBPHLENSG00000221986ENST00000357155p.E197*c.589G>TSubstitution - Nonsense
ENST00000270720p.R759*c.2275A>TSubstitution - Nonsense
ITPRIPL2ENSG00000205730ENST00000381440p.P183Lc.548C>TSubstitution - Missense
SMG1ENSG00000157106ENST00000446231p.P1306Sc.3916C>TSubstitution - Missense
SU_SMG1p.P1302Sc.3904C>TSubstitution - Missense
ZNF598ENSG00000167962ENST00000431526p.T664Mc.1991C>TSubstitution - Missense
CUBNENSG00000107611ENST00000377833p.T2007Mc.6020C>TSubstitution - Missense
ABCD4ENSG00000119688ENST00000356924p.R432Wc.1294C>TSubstitution - Missense
NM_001271.1p.P1614Lc.4841C>TSubstitution - Missense
MAN2A2ENSG00000196547ENST00000360468p.R937Gc.2809C>GSubstitution - Missense
PRKG1ENSG00000185532ENST00000373980p.N583Nc.1749C>TSubstitution - coding silent
PRKG1ENSG00000185532ENST00000401604p.N568Nc.1704C>TSubstitution - coding silent
SFMBT2ENSG00000198879ENST00000361972p.T862Mc.2585C>TSubstitution - Missense
HIVEP3ENSG00000127124ENST00000372583p.S948Lc.2843C>TSubstitution - Missense
TCHHL1ENSG00000182898ENST00000368806p.Q205Lc.614A>TSubstitution - Missense
SPTBN5ENSG00000137877ENST00000320955p.E3223Ec.9669G>ASubstitution - coding silent
UBR1ENSG00000159459ENST00000290650p.R179Hc.536G>ASubstitution - Missense
PLA2G4FENSG00000168907ENST00000382396p.P418Pc.1254C>TSubstitution - coding silent
CRTC2ENSG00000160741ENST00000368633p.H426Nc.1276C>ASubstitution - Missense
XM_290898p.V307Vc.921C>GSubstitution - coding silent
PLA2G2CENSG00000187980ENST00000247992p.L110Pc.329T>CSubstitution - Missense
DSTYKENSG00000133059ENST00000367162p.V846Vc.2538C>GSubstitution - coding silent
LEO1ENSG00000166477ENST00000299601p.R288Hc.863G>ASubstitution - Missense
TUBENSG00000166402ENST00000305253p.R459Pc.1376G>CSubstitution - Missense
RORAENSG00000069667ENST00000309157p.E539*c.1615G>TSubstitution - Nonsense
RORAENSG00000069667ENST00000335670p.E514*c.1540G>TSubstitution - Nonsense
GRM5ENSG00000168959ENST00000418177p.P1183Lc.3548C>TSubstitution - Missense
KNTC1ENSG00000184445ENST00000333479p.T1589Sc.4765A>TSubstitution - Missense
LOH12CR1ENSG00000165714ENST00000314565p.L173Lc.519C>TSubstitution - coding silent
NM_006312.2p.V214Mc.640G>ASubstitution - Missense
PPIAL4GENSG00000236334ENST00000419275p.*165*c.495A>GSubstitution - coding silent
TM2D1ENSG00000162604ENST00000371180p.G70Vc.209G>TSubstitution - Missense
TM2D1ENSG00000162604ENST00000371177p.G8Vc.23G>TSubstitution - Missense
LRRC7ENSG00000033122ENST00000035383p.A789Gc.2366C>GSubstitution - Missense
LRRC7ENSG00000033122ENST00000035383p.Q1017Qc.3051A>GSubstitution - coding silent
ATXN3ENSG00000066427ENST00000393287p.Q305_G306insQQQQQQQc.912_913ins21Insertion - In frame
LRRC49ENSG00000137821ENST00000260382p.G220Ac.659G>CSubstitution - Missense
AVENENSG00000169857ENST00000306730p.E298Ec.894G>ASubstitution - coding silent
VPS18ENSG00000104142ENST00000220509p.E38Qc.112G>CSubstitution - Missense
ENST00000355290p.P309Pc.927G>CSubstitution - coding silent
NPIPB15ENSG00000196436ENST00000429990p.P370Pc.1110G>CSubstitution - coding silent
MSLNLENSG00000162006ENST00000293892p.L698Lc.2094G>ASubstitution - coding silent
PIKFYVEENSG00000115020ENST00000264380p.S1474Fc.4421C>TSubstitution - Missense
CPS1ENSG00000021826ENST00000233072p.H1298Qc.3894T>ASubstitution - Missense
MARCH2ENSG00000099785ENST00000602117p.L173Lc.519G>ASubstitution - coding silent
MED16ENSG00000175221ENST00000325464p.F624Fc.1872C>TSubstitution - coding silent
MYOCDENSG00000141052ENST00000425538p.K264Nc.792A>CSubstitution - Missense
ATP1B2ENSG00000129244ENST00000250111p.E136Ec.408A>GSubstitution - coding silent
QRICH2ENSG00000129646ENST00000262765p.D1294Gc.3881A>GSubstitution - Missense
ZNF98ENSG00000197360ENST00000357774p.K179Mc.536A>TSubstitution - Missense
ZNF98ENSG00000197360ENST00000357774p.K179Mc.536A>TSubstitution - Missense
CEP89ENSG00000121289ENST00000305768p.R305*c.913C>TSubstitution - Nonsense
POLD1ENSG00000062822ENST00000440232p.Y701Yc.2103C>TSubstitution - coding silent
KIR3DL3ENSG00000242019ENST00000291860p.H172Hc.516C>TSubstitution - coding silent
ZBP1ENSG00000124256ENST00000371173p.D223Dc.669C>TSubstitution - coding silent
SALL4ENSG00000101115ENST00000217086p.A1025Ec.3074C>ASubstitution - Missense
IQUBENSG00000164675ENST00000324698p.A446Vc.1337C>TSubstitution - Missense
NM_002200.3p.Q347Qc.1041G>ASubstitution - coding silent
JAK2ENSG00000096968ENST00000381652p.P811Tc.2431C>ASubstitution - Missense
ADAM28ENSG00000042980ENST00000265769p.A15Sc.43G>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.S2152Fc.6455C>TSubstitution - Missense
ENST00000318252p.S1881Fc.5642C>TSubstitution - Missense
GEMENSG00000164949ENST00000396194p.A125Tc.373G>ASubstitution - Missense
GNA13ENSG00000120063ENST00000439174p.L143*c.428T>ASubstitution - Nonsense
PTENENSG00000171862ENST00000371953p.W111Rc.331T>CSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.C238Yc.713G>ASubstitution - Missense
PTPRFENSG00000142949ENST00000359947p.R1182Hc.3545G>ASubstitution - Missense
TP53ENSG00000141510ENST00000413465p.C238Yc.713G>ASubstitution - Missense
DDX3XENSG00000215301ENST00000399959p.R475Cc.1423C>TSubstitution - Missense
PHF6ENSG00000156531ENST00000370803p.R116*c.346C>TSubstitution - Nonsense
ACTN2ENSG00000077522ENST00000366578p.Y248Yc.744C>TSubstitution - coding silent
MIDNENSG00000167470ENST00000300952p.A334Tc.1000G>ASubstitution - Missense
B4GALT6ENSG00000118276ENST00000306851p.A17Tc.49G>ASubstitution - Missense
GFAPENSG00000131095ENST00000253408p.E281Kc.841G>ASubstitution - Missense
GFAPENSG00000131095ENST00000435360p.E281Kc.841G>ASubstitution - Missense
ENST00000349653p.R727Cc.2179C>TSubstitution - Missense
ARAP2ENSG00000047365ENST00000303965p.R1401Wc.4201C>TSubstitution - Missense
CER1ENSG00000147869ENST00000380911p.V179Lc.535G>TSubstitution - Missense
PCLOENSG00000186472ENST00000333891p.?c.14791+10G>AUnknown
EIF4G3ENSG00000075151ENST00000374937p.E1173Ec.3519A>GSubstitution - coding silent
NEK2ENSG00000117650ENST00000366999p.N66Kc.198C>ASubstitution - Missense
ENST00000333854p.R128Rc.384G>ASubstitution - coding silent
SH2D5ENSG00000189410ENST00000444387p.S247Sc.741G>TSubstitution - coding silent
ESPL1ENSG00000135476ENST00000257934p.A2024Ac.6072C>TSubstitution - coding silent
PARP6ENSG00000137817ENST00000287196p.?c.237+1G>AUnknown
TAS2R8ENSG00000121314ENST00000240615p.N24fs*6c.69delGDeletion - Frameshift
TAS2R31ENSG00000256436ENST00000390675p.L59Rc.176T>GSubstitution - Missense
VCAM1ENSG00000162692ENST00000294728p.E451Gc.1352A>GSubstitution - Missense
EPC1ENSG00000120616ENST00000263062p.G686Gc.2058C>TSubstitution - coding silent
MARK1ENSG00000116141ENST00000366917p.I40Nc.119T>ASubstitution - Missense
MICAL2ENSG00000133816ENST00000379612p.D687Hc.2059G>CSubstitution - Missense
OR8D2ENSG00000197263ENST00000357438p.V83Ac.248T>CSubstitution - Missense
AMBRA1ENSG00000110497ENST00000314845p.L908Pc.2723T>CSubstitution - Missense
AMBRA1ENSG00000110497ENST00000458649p.L998Pc.2993T>CSubstitution - Missense
MADDENSG00000110514ENST00000311027p.?c.4616-10C>AUnknown
LTBRENSG00000111321ENST00000228918p.P394Lc.1181C>TSubstitution - Missense
OTOGLENSG00000165899ENST00000458043p.G19Rc.55G>ASubstitution - Missense
ENST00000458043_v65p.G1654Ac.4961G>CSubstitution - Missense
OTOGLENSG00000165899ENST00000298820p.G97Rc.289G>CSubstitution - Missense
OTOGLENSG00000165899ENST00000458043p.G19Ac.56G>CSubstitution - Missense
PAWRENSG00000177425ENST00000328827p.R189Qc.566G>ASubstitution - Missense
TMTC3ENSG00000139324ENST00000266712p.D667Nc.1999G>ASubstitution - Missense
KANSL2ENSG00000139620ENST00000420613p.T11Ac.31A>GSubstitution - Missense
KANSL2ENSG00000139620ENST00000420613p.T11Ac.31A>GSubstitution - Missense
FMNL3ENSG00000161791ENST00000335154p.R712Hc.2135G>ASubstitution - Missense
ADAMTSL3ENSG00000156218ENST00000286744p.P1054Pc.3162T>CSubstitution - coding silent
C2CD3ENSG00000168014ENST00000313663p.?c.5496-6_5499>GACAAAAGAUnknown
LRRC27ENSG00000148814ENST00000368614p.D400Nc.1198G>ASubstitution - Missense
TOX4ENSG00000092203ENST00000262709p.L402Lc.1204C>TSubstitution - coding silent
EFSENSG00000100842ENST00000216733p.R335Wc.1003C>TSubstitution - Missense
ID3ENSG00000117318ENST00000374561p.?c.300+1G>AUnknown
ID3ENSG00000117318ENST00000374561p.Q100Qc.300G>ASubstitution - coding silent
KIF26BENSG00000162849ENST00000407071p.G955Wc.2863G>TSubstitution - Missense
CDC123ENSG00000151465ENST00000281141p.H320Rc.959A>GSubstitution - Missense
TACC2ENSG00000138162ENST00000369005p.P1903Sc.5707C>TSubstitution - Missense
CHPT1ENSG00000111666ENST00000229266p.E321Ec.963A>GSubstitution - coding silent
STAB2ENSG00000136011ENST00000388887p.V2158Dc.6473T>ASubstitution - Missense
NM_006105.3p.A806Vc.2417C>TSubstitution - Missense
DARS2ENSG00000117593ENST00000361951p.P507Sc.1519C>TSubstitution - Missense
PTP4A2ENSG00000184007ENST00000344035p.N161Sc.482A>GSubstitution - Missense
ZMYM6ENSG00000163867ENST00000357182p.L1267Hc.3800T>ASubstitution - Missense
ENST00000563027_v68p.S553Fc.1658C>TSubstitution - Missense
ADAMTS15ENSG00000166106ENST00000299164p.E308Qc.922G>CSubstitution - Missense
MRGPRX4ENSG00000179817ENST00000314254p.L235Lc.705G>ASubstitution - coding silent
ENSG00000258664ENST00000553856p.W66Cc.198G>CSubstitution - Missense
ZFC3H1ENSG00000133858ENST00000378743p.?c.4131-10A>GUnknown
CD163L1ENSG00000177675ENST00000313599p.D1102Yc.3304G>TSubstitution - Missense
VAV3ENSG00000134215ENST00000415432p.S44Pc.130T>CSubstitution - Missense


COSMIC

0 mutations reported
0 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