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

CaR-1 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

825 mutations reported
334 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
INSM1ENSG00000173404ENST00000310227p.L241Lc.721C>TSubstitution - coding silent
SEPT9ENSG00000184640ENST00000427180p.?c.577+10C>TUnknown
ZNF704ENSG00000164684ENST00000327835p.L291Fc.873G>TSubstitution - Missense
ANO7ENSG00000146205ENST00000402430p.P753Pc.2259G>CSubstitution - coding silent
TSGA10ENSG00000135951ENST00000355053p.P12Qc.35C>ASubstitution - Missense
COL20A1ENSG00000101203ENST00000358894p.?c.941-6G>AUnknown
CAMK4ENSG00000152495ENST00000512453p.?c.702-4C>TUnknown
EXOSC9ENSG00000123737ENST00000379663p.I303Ic.909T>CSubstitution - coding silent
DNPEPENSG00000123992ENST00000273075p.G443Dc.1328G>ASubstitution - Missense
NM_001371.1p.L2242Lc.6726G>ASubstitution - coding silent
CCDC102BENSG00000150636ENST00000360242p.R93Rc.277C>ASubstitution - coding silent
DSTENSG00000151914ENST00000244364p.T374Tc.1122A>GSubstitution - coding silent
ABCA3ENSG00000167972ENST00000301732p.P585Pc.1755C>TSubstitution - coding silent
ARHGAP21ENSG00000107863ENST00000376410p.N25Dc.73A>GSubstitution - Missense
E2F8ENSG00000129173ENST00000250024p.K460Nc.1380A>CSubstitution - Missense
PIK3CGENSG00000105851ENST00000440650p.A29Ac.87G>ASubstitution - coding silent
RUFY1ENSG00000176783ENST00000437570p.P580Pc.1740G>ASubstitution - coding silent
ESPL1ENSG00000135476ENST00000257934p.V1979Ac.5936T>CSubstitution - Missense
HSPA8ENSG00000109971ENST00000532636p.F353Yc.1058T>ASubstitution - Missense
NADKENSG00000008130ENST00000344463p.P345Pc.1035G>ASubstitution - coding silent
HRNRENSG00000197915ENST00000368801p.S976Sc.2928C>TSubstitution - coding silent
ANK3ENSG00000151150ENST00000280772p.I1571Vc.4711A>GSubstitution - Missense
DMXL2ENSG00000104093ENST00000251076p.N1661Sc.4982A>GSubstitution - Missense
FLGENSG00000143631ENST00000368799p.G1109fs*13c.3326delGDeletion - Frameshift
WLSENSG00000116729ENST00000354777p.G338Rc.1012G>ASubstitution - Missense
TTNENSG00000155657ENST00000360870p.S3376Sc.10128G>ASubstitution - coding silent
PDE4AENSG00000065989ENST00000344979p.E277Ec.831G>ASubstitution - coding silent
ROBO2ENSG00000185008ENST00000461745p.E944Qc.2830G>CSubstitution - Missense
ITGAXENSG00000140678ENST00000268296p.T1073Tc.3219G>ASubstitution - coding silent
RARBENSG00000077092ENST00000330688p.N131Kc.393T>ASubstitution - Missense
ZNF513ENSG00000163795ENST00000323703p.E49Ec.147A>GSubstitution - coding silent
IGHV1OR21-1ENSG00000169861ENST00000302092p.G34Rc.100G>CSubstitution - Missense
C4orf22ENSG00000197826ENST00000358105p.R189Ic.566G>TSubstitution - Missense
CCDC142ENSG00000135637ENST00000290418p.Q246Ec.736C>GSubstitution - Missense
RTKNENSG00000114993ENST00000272430p.L264Lc.792C>TSubstitution - coding silent
C3orf58ENSG00000181744ENST00000315691p.T45Sc.134C>GSubstitution - Missense
ATRIPENSG00000164053ENST00000320211p.T523Nc.1568C>ASubstitution - Missense
TTC37ENSG00000198677ENST00000358746p.K637Ec.1909A>GSubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
PIGGENSG00000174227ENST00000310340p.P367Pc.1101G>ASubstitution - coding silent
KBTBD4ENSG00000123444ENST00000430070p.S145Cc.434C>GSubstitution - Missense
IFNA13ENSG00000233816ENST00000449498p.A11Ac.33C>ASubstitution - coding silent
FPR3ENSG00000187474ENST00000339223p.T147Tc.441G>ASubstitution - coding silent
LMAN1LENSG00000140506ENST00000309664p.P47Pc.141T>CSubstitution - coding silent
TMTC1ENSG00000133687ENST00000256062p.V706Mc.2116G>ASubstitution - Missense
C2orf88ENSG00000187699ENST00000340623p.E23Gc.68A>GSubstitution - Missense
C17orf97ENSG00000187624ENST00000360127p.E270Kc.808G>ASubstitution - Missense
RNF123ENSG00000164068ENST00000327697p.?c.2159-4C>TUnknown
MTUS1ENSG00000129422ENST00000297488p.E238Ec.714A>GSubstitution - coding silent
SLC5A6ENSG00000138074ENST00000310574p.V465Ic.1393G>ASubstitution - Missense
CORO7ENSG00000262246ENST00000251166p.L904Pc.2711T>CSubstitution - Missense
SU_SK681p.P740Pc.2220T>ASubstitution - coding silent
NM_005689.1p.Y599Cc.1796A>GSubstitution - Missense
NM_014911p.L84Lc.252C>GSubstitution - coding silent
GRK7ENSG00000114124ENST00000264952p.R195Tc.584G>CSubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
ENSG00000183760ENST00000331256p.L234Mc.700C>ASubstitution - Missense
PMPCAENSG00000165688ENST00000444897p.P63Pc.189C>TSubstitution - coding silent
C4orf22ENSG00000197826ENST00000508675p.R206Ic.617G>TSubstitution - Missense
GPR84ENSG00000139572ENST00000267015p.R54Qc.161G>ASubstitution - Missense
DEGS1ENSG00000143753ENST00000391877p.G139Gc.417C>TSubstitution - coding silent
BMS1ENSG00000165733ENST00000374518p.S295fs*8c.880delADeletion - Frameshift
DNAH14ENSG00000185842ENST00000430092p.N1395fs*22c.4172_4173insATInsertion - Frameshift
SU_OBSCN.1p.M7680Ic.23040G>ASubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.T2038Ic.6113C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000399617p.D150Nc.448G>ASubstitution - Missense
SU_OBSCN.1p.S4678Lc.14033C>TSubstitution - Missense
AKAP13ENSG00000170776ENST00000361243p.L1497*c.4490T>GSubstitution - Nonsense
AKAP13ENSG00000170776ENST00000394518p.L1497*c.4490T>GSubstitution - Nonsense
WDR93ENSG00000140527ENST00000268130p.G21_P22>Ac.62_64delGACComplex - deletion inframe
FAM149B1ENSG00000138286ENST00000242505p.?c.1127+10T>GUnknown
USP28ENSG00000048028ENST00000003302p.M469Vc.1405A>GSubstitution - Missense
TMEM132CENSG00000181234ENST00000315208p.R196Qc.587G>ASubstitution - Missense
WLSENSG00000116729ENST00000262348p.G340Rc.1018G>ASubstitution - Missense
XM_172801.3p.S1217Sc.3651T>CSubstitution - coding silent
PRPF8ENSG00000174231ENST00000304992p.H1083Hc.3249C>TSubstitution - coding silent
POT1ENSG00000128513ENST00000357628p.V326Ac.977T>CSubstitution - Missense
C16orf78ENSG00000166152ENST00000299191p.K15Kc.45G>ASubstitution - coding silent
PRSS1ENSG00000204983ENST00000311737p.S124Fc.371C>TSubstitution - Missense
GPC1ENSG00000063660ENST00000264039p.?c.717+4C>TUnknown
COL20A1ENSG00000101203ENST00000326996p.?c.2210-4C>GUnknown
SPTBN1ENSG00000115306ENST00000356805p.?c.474+9C>TUnknown
MAZENSG00000103495ENST00000219782p.?c.192+8G>AUnknown
NM_133638.1p.H798Rc.2393A>GSubstitution - Missense
MAMLD1ENSG00000013619ENST00000432680p.Q477_A478insQc.1430_1431insGCAInsertion - In frame
NWD1ENSG00000188039ENST00000339803p.G544Gc.1632C>TSubstitution - coding silent
ABL1ENSG00000097007ENST00000318560p.N96Sc.287A>GSubstitution - Missense
ANGPTL2ENSG00000136859ENST00000373425p.A152Ac.456G>ASubstitution - coding silent
FNIP2ENSG00000052795ENST00000264433p.T155Mc.464C>TSubstitution - Missense
HTR3CENSG00000178084ENST00000318351p.F433Fc.1299C>TSubstitution - coding silent
ENST00000327733p.?c.859+3G>AUnknown
PTPRDENSG00000153707ENST00000397617p.G1071Rc.3211G>ASubstitution - Missense
VWFENSG00000110799ENST00000261405p.G1643Sc.4927G>ASubstitution - Missense
RNF169ENSG00000166439ENST00000299563p.D500Nc.1498G>ASubstitution - Missense
GORABENSG00000120370ENST00000367763p.S325*c.974C>ASubstitution - Nonsense
TCHHENSG00000159450ENST00000368804p.H434Qc.1302C>ASubstitution - Missense
ENST00000426033p.T501Tc.1503C>TSubstitution - coding silent
WDFY4ENSG00000128815ENST00000360890p.T501Tc.1503C>TSubstitution - coding silent
GRIP1ENSG00000155974ENST00000398016p.Q790Qc.2370G>ASubstitution - coding silent
ST18ENSG00000147488ENST00000276480p.R794Hc.2381G>ASubstitution - Missense
LILRB4ENSG00000186818ENST00000391736p.?c.35-6T>CUnknown
KIR2DL3ENSG00000243772ENST00000342376p.L160Lc.478C>TSubstitution - coding silent
INTS10ENSG00000104613ENST00000397977p.?c.441_442-2del1920Unknown
ANKRD36ENSG00000135976ENST00000420699p.K1469Kc.4407A>GSubstitution - coding silent
CENPEENSG00000138778ENST00000265148p.L2342Lc.7026A>GSubstitution - coding silent
NM_001001671.1p.P168Pc.504T>ASubstitution - coding silent
TBC1D31ENSG00000156787ENST00000287380p.D394Ec.1182C>ASubstitution - Missense
EYSENSG00000188107ENST00000370621p.T1247Ic.3740C>TSubstitution - Missense
SLC6A19ENSG00000174358ENST00000304460p.V439Vc.1317C>TSubstitution - coding silent
TSC1ENSG00000165699ENST00000298552p.S1043_E1044insSc.3129_3130insAGCInsertion - In frame
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
TBX20ENSG00000164532ENST00000408931p.Q10Qc.30A>GSubstitution - coding silent
TANC1ENSG00000115183ENST00000263635p.A1571Vc.4712C>TSubstitution - Missense
ENST00000318560_v70p.N96Sc.287A>GSubstitution - Missense
EXOC6ENSG00000138190ENST00000260762p.L724Lc.2172C>TSubstitution - coding silent
CHRNA3ENSG00000080644ENST00000326828p.S422Ic.1265G>TSubstitution - Missense
UBXN1ENSG00000162191ENST00000294119p.S77Fc.230C>TSubstitution - Missense
PLD5ENSG00000180287ENST00000536534p.I80Vc.238A>GSubstitution - Missense
NADKENSG00000008130ENST00000341991p.P200Pc.600G>ASubstitution - coding silent
NBPF12ENSG00000186275ENST00000446760p.?c.1773-7T>GUnknown
HTR3AENSG00000166736ENST00000355556p.R245Cc.733C>TSubstitution - Missense
KIAA0232ENSG00000170871ENST00000307659p.Q730*c.2188C>TSubstitution - Nonsense
FBLL1ENSG00000188573ENST00000338333p.L233Lc.699C>GSubstitution - coding silent
ESR2ENSG00000140009ENST00000557772p.I32fs*7c.92_93insTAInsertion - Frameshift
PODXLENSG00000128567ENST00000541194p.S31_Q32insPSc.64_65insCGTCGCInsertion - In frame
PRAMEF1ENSG00000116721ENST00000332296p.V108Fc.322G>TSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.T3111Mc.9332C>TSubstitution - Missense
CDONENSG00000064309ENST00000263577p.G109Gc.327C>GSubstitution - coding silent
TENM4ENSG00000149256ENST00000278550p.M2173Tc.6518T>CSubstitution - Missense
DTX4ENSG00000110042ENST00000227451p.P509Lc.1526C>TSubstitution - Missense
IGHMBP2ENSG00000132740ENST00000255078p.G495Sc.1483G>ASubstitution - Missense
HCFC2ENSG00000111727ENST00000229330p.M409Ic.1227G>ASubstitution - Missense
SENP1ENSG00000079387ENST00000448372p.V521Ic.1561G>ASubstitution - Missense
HABP2ENSG00000148702ENST00000351270p.T164Tc.492C>ASubstitution - coding silent
IGSF3ENSG00000143061ENST00000369483p.N687Sc.2060A>GSubstitution - Missense
OASLENSG00000135114ENST00000257570p.V154Lc.460G>TSubstitution - Missense
AMY2BENSG00000240038ENST00000361355p.I382Mc.1146T>GSubstitution - Missense
KCNC4ENSG00000116396ENST00000369787p.E554delEc.1657_1659delGAGDeletion - In frame
PDE4DIPENSG00000178104ENST00000313382p.Q1638Hc.4914G>TSubstitution - Missense
EFNB2ENSG00000125266ENST00000245323p.D209Dc.627C>TSubstitution - coding silent
SLC25A41ENSG00000181240ENST00000321510p.G325Rc.973G>ASubstitution - Missense
SLC1A1ENSG00000106688ENST00000262352p.I127Ic.381T>ASubstitution - coding silent
DHRS13ENSG00000167536ENST00000378895p.R309Mc.926G>TSubstitution - Missense
PARM1ENSG00000169116ENST00000307428p.S113Nc.338G>ASubstitution - Missense
MORC3ENSG00000159256ENST00000400485p.?c.461-9A>TUnknown
STK25ENSG00000115694ENST00000316586p.A103Tc.307G>ASubstitution - Missense
ACP1ENSG00000143727ENST00000272067p.P56Ac.166C>GSubstitution - Missense
GPR82ENSG00000171657ENST00000302548p.E181fs*87c.540_541insTACAInsertion - Frameshift
ZNF419ENSG00000105136ENST00000347466p.C428Rc.1282T>CSubstitution - Missense
RETSATENSG00000042445ENST00000295802p.T466Tc.1398T>CSubstitution - coding silent
ADCY2ENSG00000078295ENST00000338316p.E591Kc.1771G>ASubstitution - Missense
DSTENSG00000151914ENST00000370765p.T374Tc.1122A>GSubstitution - coding silent
NACADENSG00000136274ENST00000490531p.T635Ac.1903A>GSubstitution - Missense
C7orf25ENSG00000136197ENST00000350427p.G93Dc.278G>ASubstitution - Missense
DNAH8ENSG00000124721ENST00000449981p.L2459Lc.7377G>ASubstitution - coding silent
DTX2ENSG00000091073ENST00000324432p.T592Mc.1775C>TSubstitution - Missense
AKAP11ENSG00000023516ENST00000025301p.A1215Ac.3645T>GSubstitution - coding silent
DTX4ENSG00000110042ENST00000227451p.P403Lc.1208C>TSubstitution - Missense
ARHGEF40ENSG00000165801ENST00000298694p.P81Pc.243G>ASubstitution - coding silent
COL17A1ENSG00000065618ENST00000353479p.T589Tc.1767T>GSubstitution - coding silent
UTP20ENSG00000120800ENST00000261637p.T280Nc.839C>ASubstitution - Missense
TUBGCP3ENSG00000126216ENST00000261965p.?c.331-3C>TUnknown
MAPTENSG00000186868ENST00000344290p.D649Ec.1947C>ASubstitution - Missense
MAP2ENSG00000078018ENST00000199940p.G422Rc.1264G>ASubstitution - Missense
SEPT9ENSG00000184640ENST00000427177p.?c.913+10C>TUnknown
ENST00000399933_v61p.T6Pc.16A>CSubstitution - Missense
RBM12BENSG00000183808ENST00000399300p.P790_R797delPPQEHFRRc.2310_2352>19Deletion - In frame
PDE4AENSG00000065989ENST00000440014p.E455Ec.1365G>ASubstitution - coding silent
DENND2AENSG00000146966ENST00000275884p.K620Ec.1858A>GSubstitution - Missense
ZFHX4ENSG00000091656ENST00000521891p.R579Rc.1737G>CSubstitution - coding silent
WDFY3ENSG00000163625ENST00000295888p.H764Rc.2291A>GSubstitution - Missense
RANBP2ENSG00000153201ENST00000283195p.V1411Vc.4233G>ASubstitution - coding silent
FAM65AENSG00000039523ENST00000042381p.P42Lc.125C>TSubstitution - Missense
SLC12A7ENSG00000113504ENST00000264930p.I889Mc.2667C>GSubstitution - Missense
WDR92ENSG00000243667ENST00000295121p.I10Lc.28A>CSubstitution - Missense
AAK1ENSG00000115977ENST00000409085p.L84Lc.252C>GSubstitution - coding silent
MEIS3ENSG00000105419ENST00000561293p.H63Yc.187C>TSubstitution - Missense
PLEKHH2ENSG00000152527ENST00000282406p.I1436Ic.4308C>ASubstitution - coding silent
VPS13AENSG00000197969ENST00000360280p.K752Ec.2254A>GSubstitution - Missense
ENST00000316490_v65p.N2888Sc.8663A>GSubstitution - Missense
GSTT1ENSG00000184674ENST00000248935p.R76Cc.226C>TSubstitution - Missense
OR52J3ENSG00000205495ENST00000380370p.S218Lc.653C>TSubstitution - Missense
OR8H1ENSG00000181693ENST00000313022p.T180Mc.539C>TSubstitution - Missense
EXO1ENSG00000174371ENST00000366548p.V817fs*9c.2449_2450insCCCAGInsertion - Frameshift
KIR2DL3ENSG00000243772ENST00000434419p.L94Lc.282T>GSubstitution - coding silent
PDXDC1ENSG00000179889ENST00000396410p.E15*c.43G>TSubstitution - Nonsense
WDR72ENSG00000166415ENST00000396328p.D847Nc.2539G>ASubstitution - Missense
AP4E1ENSG00000081014ENST00000261842p.R794Gc.2380A>GSubstitution - Missense
ENST00000356127p.S3376Sc.10128G>ASubstitution - coding silent
ENST00000429478p.R1073Ic.3218G>TSubstitution - Missense
THNSL2ENSG00000144115ENST00000324166p.V283Mc.847G>ASubstitution - Missense
NM_145686p.P753Pc.2259T>CSubstitution - coding silent
ENST00000378682p.K434Nc.1302G>TSubstitution - Missense
ROS1ENSG00000047936ENST00000368507p.W142Rc.424T>CSubstitution - Missense
ENST00000374801p.S10Sc.30C>TSubstitution - coding silent
ENST00000346816p.G949Rc.2845G>ASubstitution - Missense
PMPCAENSG00000165688ENST00000371717p.P355Pc.1065C>TSubstitution - coding silent
PPP1R26ENSG00000196422ENST00000356818p.R470Wc.1408C>TSubstitution - Missense
VDRENSG00000111424ENST00000535672p.D250Dc.750C>TSubstitution - coding silent
PLD5ENSG00000180287ENST00000427495p.I18Vc.52A>GSubstitution - Missense
KIR2DL3ENSG00000243772ENST00000342376p.L94Lc.282T>GSubstitution - coding silent
SEPT9ENSG00000184640ENST00000423034p.?c.892+10C>TUnknown
MAP4K4ENSG00000071054ENST00000350878p.P648Pc.1944T>CSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.V272Mc.814G>ASubstitution - Missense
LPCAT1ENSG00000153395ENST00000283415p.F311Fc.933C>TSubstitution - coding silent
PRAMEF1ENSG00000116721ENST00000332296p.V108Fc.322G>TSubstitution - Missense
MUC5BENSG00000117983ENST00000529681p.V3237Fc.9709G>TSubstitution - Missense
OR6M1ENSG00000196099ENST00000309154p.L308Lc.924G>ASubstitution - coding silent
HOMEZENSG00000215271ENST00000357460p.E517Gc.1550A>GSubstitution - Missense
FRYENSG00000073910ENST00000380250p.L2772Lc.8316C>ASubstitution - coding silent
PAX7ENSG00000009709ENST00000375375p.G412Sc.1234G>ASubstitution - Missense
TMEM92ENSG00000167105ENST00000300433p.S90Nc.269G>ASubstitution - Missense
MOSENSG00000172680ENST00000311923p.E211*c.631G>TSubstitution - Nonsense
TRRAPENSG00000196367ENST00000355540p.T3760Mc.11279C>TSubstitution - Missense
KIR3DL2ENSG00000240403ENST00000326321p.A261Ac.783C>ASubstitution - coding silent
HAO1ENSG00000101323ENST00000378789p.R70Sc.210G>TSubstitution - Missense
TOP2BENSG00000077097ENST00000435706p.S1608Sc.4824T>GSubstitution - coding silent
SFRP1ENSG00000104332ENST00000220772p.P62Pc.186C>GSubstitution - coding silent
DAW1ENSG00000123977ENST00000309931p.S42Tc.125G>CSubstitution - Missense
SPTBN1ENSG00000115306ENST00000333896p.?c.435+9C>TUnknown
PNMAL2ENSG00000204851ENST00000599531p.G502Wc.1504G>TSubstitution - Missense
KLHL26ENSG00000167487ENST00000300976p.T345Mc.1034C>TSubstitution - Missense
DSPENSG00000096696ENST00000379802p.T564Tc.1692A>GSubstitution - coding silent
NM_133482.1p.Q265Rc.794A>GSubstitution - Missense
ADAP2ENSG00000184060ENST00000330889p.L294Pc.881T>CSubstitution - Missense
PLEKHG2ENSG00000090924ENST00000409794p.E649Kc.1945G>ASubstitution - Missense
NM_022835.1p.E607Kc.1819G>ASubstitution - Missense
CYP21A2ENSG00000231852ENST00000418967p.E247fs*11c.740delADeletion - Frameshift
EXOC6ENSG00000138190ENST00000371547p.L740Lc.2220C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000420246p.V272Mc.814G>ASubstitution - Missense
PADI1ENSG00000142623ENST00000375471p.E353Kc.1057G>ASubstitution - Missense
NM_013264.2p.L301Lc.903C>GSubstitution - coding silent
OR51H1PENSG00000176904ENST00000322059p.R144*c.430C>TSubstitution - Nonsense
CACNA1CENSG00000151067ENST00000402845p.D180Nc.538G>ASubstitution - Missense
ENST00000314607_v71p.L1063Vc.3187C>GSubstitution - Missense
PRF1ENSG00000180644ENST00000373209p.I266Tc.797T>CSubstitution - Missense
HAO2ENSG00000116882ENST00000325945p.W85Cc.255G>CSubstitution - Missense
ENST00000322367p.V1140Ac.3419T>CSubstitution - Missense
TSHZ3ENSG00000121297ENST00000240587p.Q178Qc.534G>ASubstitution - coding silent
KRTAP10-6ENSG00000188155ENST00000400368p.C312fs*>54c.934_935delTGDeletion - Frameshift
MTUS1ENSG00000129422ENST00000262102p.E1072Ec.3216A>GSubstitution - coding silent
TPTEENSG00000166157ENST00000361285p.R198Gc.592C>GSubstitution - Missense
SLC9A2ENSG00000115616ENST00000233969p.A626Ac.1878C>TSubstitution - coding silent
DGKDENSG00000077044ENST00000264057p.R725Qc.2174G>ASubstitution - Missense
CNTN6ENSG00000134115ENST00000446702p.D265Dc.795C>TSubstitution - coding silent
DSTENSG00000151914ENST00000370765p.T374Tc.1122A>GSubstitution - coding silent
KIAA0922ENSG00000121210ENST00000409959p.R1602Ic.4805G>TSubstitution - Missense
ENST00000361316p.R1454Ic.4361G>TSubstitution - Missense
MAMLD1ENSG00000013619ENST00000370401p.Q502_A503insQc.1505_1506insGCAInsertion - In frame
PDGFAENSG00000197461ENST00000402802p.R78Wc.232C>TSubstitution - Missense
EPC2ENSG00000135999ENST00000258484p.A803Tc.2407G>ASubstitution - Missense
ENST00000373135_v70p.P638Pc.1914C>TSubstitution - coding silent
PHYHD1ENSG00000175287ENST00000372592p.?c.316+7A>GUnknown
PPAPDC3ENSG00000160539ENST00000372264p.I232Ic.696C>ASubstitution - coding silent
ENST00000331699p.T183Tc.549G>ASubstitution - coding silent
MTUS1ENSG00000129422ENST00000400046p.E144Ec.432A>GSubstitution - coding silent
TMC6ENSG00000141524ENST00000322914p.F557Fc.1671C>TSubstitution - coding silent
BIRC6ENSG00000115760ENST00000421745p.A4796Gc.14387C>GSubstitution - Missense
LMAN1LENSG00000140506ENST00000309664p.M97Vc.289A>GSubstitution - Missense
KBTBD4ENSG00000123444ENST00000526005p.S129Cc.386C>GSubstitution - Missense
PITPNM1ENSG00000110697ENST00000534749p.P813Lc.2438C>TSubstitution - Missense
STOML3ENSG00000133115ENST00000379631p.A168Sc.502G>TSubstitution - Missense
NM_020824.2p.N24Dc.70A>GSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369356p.Q1682Hc.5046G>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000347598p.V1653Ac.4958T>CSubstitution - Missense
MAPTENSG00000186868ENST00000262410p.D631Ec.1893C>ASubstitution - Missense
UNC80ENSG00000144406ENST00000439458p.P2888Tc.8662C>ASubstitution - Missense
CLEC11AENSG00000105472ENST00000250340p.W5Lc.14G>TSubstitution - Missense
ANKRD20A4ENSG00000172014ENST00000357336p.P426Sc.1276C>TSubstitution - Missense
ZNF20ENSG00000132010ENST00000334213p.K486Kc.1458G>ASubstitution - coding silent
ODAMENSG00000109205ENST00000396094p.R233Ic.698G>TSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.K1371Ec.4111A>GSubstitution - Missense
ABCA8ENSG00000141338ENST00000269080p.S268Fc.803C>TSubstitution - Missense
ENST00000346567p.T56Tc.168A>GSubstitution - coding silent
NDST4ENSG00000138653ENST00000264363p.P428Sc.1282C>TSubstitution - Missense
ENST00000233310p.R28Rc.84C>TSubstitution - coding silent
NCLENSG00000115053ENST00000322723p.K71Nc.213G>CSubstitution - Missense
ATRXENSG00000085224ENST00000373344p.S1992delSc.5974_5976delTCTDeletion - In frame
DLG3ENSG00000082458ENST00000374360p.C182Cc.546T>CSubstitution - coding silent
ATP9BENSG00000166377ENST00000307671p.A337Tc.1009G>ASubstitution - Missense
COL14A1ENSG00000187955ENST00000297848p.V965Vc.2895G>TSubstitution - coding silent
APOBEC3FENSG00000128394ENST00000308521p.E67Qc.199G>CSubstitution - Missense
VPS13AENSG00000197969ENST00000357409p.K752Ec.2254A>GSubstitution - Missense
GRIA1ENSG00000155511ENST00000285900p.I814Ic.2442C>ASubstitution - coding silent
TAF15ENSG00000172660ENST00000311979p.Y501Yc.1503T>CSubstitution - coding silent
ORC5ENSG00000164815ENST00000297431p.P2Pc.6C>ASubstitution - coding silent
FCGBPENSG00000090920ENST00000221347p.P1534Qc.4601C>ASubstitution - Missense
LRRC27ENSG00000148814ENST00000368610p.I379Tc.1136T>CSubstitution - Missense
CYP2A7ENSG00000198077ENST00000291764p.G70Gc.210G>ASubstitution - coding silent
KIR2DL3ENSG00000243772ENST00000434419p.L160Lc.478C>TSubstitution - coding silent
CCDC142ENSG00000135637ENST00000393965p.Q246Ec.736C>GSubstitution - Missense
EGLN1ENSG00000135766ENST00000366641p.F40Fc.120C>TSubstitution - coding silent
RUFY1ENSG00000176783ENST00000319449p.P688Pc.2064G>ASubstitution - coding silent
ATP7BENSG00000123191ENST00000242839p.A632Ac.1896C>ASubstitution - coding silent
LRRC27ENSG00000148814ENST00000368614p.I441Tc.1322T>CSubstitution - Missense
PRDX3ENSG00000165672ENST00000298510p.?c.718-1G>CUnknown
SF1ENSG00000168066ENST00000334944p.P589Pc.1767G>ASubstitution - coding silent
PDE4AENSG00000065989ENST00000352831p.E516Ec.1548G>ASubstitution - coding silent
NBEAL1ENSG00000144426ENST00000449802p.N1803Nc.5409T>CSubstitution - coding silent
DMDENSG00000198947ENST00000357033p.K1775Nc.5325G>TSubstitution - Missense
CCDC108ENSG00000181378ENST00000341552p.R922Qc.2765G>ASubstitution - Missense
RNF7ENSG00000114125ENST00000273480p.Q56fs*38c.168_171GGTG>TGTComplex - frameshift
SMPD4ENSG00000136699ENST00000409031p.S213Sc.639C>TSubstitution - coding silent
ENPP6ENSG00000164303ENST00000296741p.?c.534-8C>AUnknown
SPATA31D1ENSG00000214929ENST00000344803p.P325Lc.974C>TSubstitution - Missense
MYOFENSG00000138119ENST00000371502p.E522Qc.1564G>CSubstitution - Missense
CHD5ENSG00000116254ENST00000262450p.Y1733Yc.5199C>TSubstitution - coding silent
COL20A1ENSG00000101203ENST00000422202p.?c.962-6G>AUnknown
OR6A2ENSG00000184933ENST00000332601p.R298Cc.892C>TSubstitution - Missense
POM121CENSG00000135213ENST00000453279p.F784Fc.2352C>TSubstitution - coding silent
COL11A1ENSG00000060718ENST00000358392p.?c.2953-9C>GUnknown
ABCC9ENSG00000069431ENST00000261200p.E807Ec.2421G>ASubstitution - coding silent
ABCC9ENSG00000069431ENST00000261201p.E807Ec.2421G>ASubstitution - coding silent
NPAP1ENSG00000185823ENST00000329468p.M798Ic.2394G>ASubstitution - Missense
NCAPD3ENSG00000151503ENST00000534548p.K1090Kc.3270G>ASubstitution - coding silent
IGSF3ENSG00000143061ENST00000369486p.N667Sc.2000A>GSubstitution - Missense
FAM19A3ENSG00000184599ENST00000369630p.R106Cc.316C>TSubstitution - Missense
GPR65ENSG00000140030ENST00000267549p.Y73Cc.218A>GSubstitution - Missense
NT5C1BENSG00000185013ENST00000359846p.G71Ac.212G>CSubstitution - Missense
NM_003319p.S3330Sc.9990G>ASubstitution - coding silent
TMEM131ENSG00000075568ENST00000186436p.A1225Ac.3675G>ASubstitution - coding silent
ADAM2ENSG00000104755ENST00000265708p.F577fs*14c.1728_1729insAAInsertion - Frameshift
ENST00000265148.1p.L2305Lc.6915A>GSubstitution - coding silent
SLC27A5ENSG00000083807ENST00000263093p.V562Vc.1686G>ASubstitution - coding silent
CAND2ENSG00000144712ENST00000456430p.D645Dc.1935C>TSubstitution - coding silent
EML2ENSG00000125746ENST00000245925p.?c.1122+7C>AUnknown
ATRXENSG00000085224ENST00000373344p.S1992delSc.5974_5976delTCTDeletion - In frame
SPATA31D1ENSG00000214929ENST00000344803p.P325Lc.974C>TSubstitution - Missense
STK32BENSG00000152953ENST00000282908p.G387Vc.1160G>TSubstitution - Missense
RBM43ENSG00000184898ENST00000331426p.K306Rc.917A>GSubstitution - Missense
L3MBTL1ENSG00000185513ENST00000422861p.P424Pc.1272C>TSubstitution - coding silent
ABCB6ENSG00000115657ENST00000265316p.Y599Cc.1796A>GSubstitution - Missense
WDR93ENSG00000140527ENST00000268130p.G21Ac.62G>CSubstitution - Missense
PDXDC1ENSG00000179889ENST00000455313p.E15*c.43G>TSubstitution - Nonsense
TEX11ENSG00000120498ENST00000395889p.D847Ec.2541T>GSubstitution - Missense
HOXA11ENSG00000005073ENST00000006015p.P97Ac.289C>GSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.V2850Vc.8550C>TSubstitution - coding silent
CAPN2ENSG00000162909ENST00000295006p.R318Wc.952C>TSubstitution - Missense
COX16ENSG00000133983ENST00000389912p.M1Tc.2T>CSubstitution - Missense
KIAA1462ENSG00000165757ENST00000375377p.A1169Pc.3505G>CSubstitution - Missense
MAT1AENSG00000151224ENST00000372213p.G136Gc.408T>GSubstitution - coding silent
OBSCNENSG00000154358ENST00000284548p.S4096Lc.12287C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000399634p.D150Nc.448G>ASubstitution - Missense
MTORENSG00000198793ENST00000361445p.P1537Sc.4609C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.Q1682Hc.5046G>TSubstitution - Missense
ESR2ENSG00000140009ENST00000554572p.I32fs*7c.92_93insTAInsertion - Frameshift
ZNF98ENSG00000197360ENST00000357774p.S502Cc.1505C>GSubstitution - Missense
NCAM2ENSG00000154654ENST00000400546p.G501Ac.1502G>CSubstitution - Missense
FUT1ENSG00000174951ENST00000310160p.L41Lc.121C>TSubstitution - coding silent
DAAM2ENSG00000146122ENST00000538976p.T175Ac.523A>GSubstitution - Missense
ENST00000330816p.T35Ic.104C>TSubstitution - Missense
SOS1ENSG00000115904ENST00000426016p.?c.721-7C>TUnknown
SLC26A4ENSG00000091137ENST00000265715p.?c.1342-8C>TUnknown
THSD7AENSG00000005108ENST00000423059p.L34_L35insPLPLc.80_81ins12Insertion - In frame
ABL1ENSG00000097007ENST00000372348p.R895Gc.2683A>GSubstitution - Missense
THNSL2ENSG00000144115ENST00000343544p.V283Mc.847G>ASubstitution - Missense
C17orf97ENSG00000187624ENST00000360127p.E270Kc.808G>ASubstitution - Missense
GALNT8ENSG00000130035ENST00000252318p.R294Wc.880C>TSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.V2850Vc.8550C>TSubstitution - coding silent
KLF6ENSG00000067082ENST00000469435p.R198Rc.594G>ASubstitution - coding silent
CSKENSG00000103653ENST00000220003p.I255Ic.765C>TSubstitution - coding silent
LEMD3ENSG00000174106ENST00000308330p.D721Ac.2162A>CSubstitution - Missense
NM_130398.2p.V817fs*9c.2449_2450insCCCAGInsertion - Frameshift
COPB1ENSG00000129083ENST00000249923p.S599Fc.1796C>TSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.N2994Hc.8980A>CSubstitution - Missense
HTR3AENSG00000166736ENST00000355556p.E472Ec.1416G>ASubstitution - coding silent
ADAM10ENSG00000137845ENST00000260408p.R77Tc.230G>CSubstitution - Missense
IL12RB2ENSG00000081985ENST00000262345p.?c.1559-3C>TUnknown
ZDHHC20ENSG00000180776ENST00000400590p.P323Pc.969T>CSubstitution - coding silent
MYOM2ENSG00000036448ENST00000262113p.V684Vc.2052C>TSubstitution - coding silent
TTC27ENSG00000018699ENST00000317907p.V366Lc.1096G>CSubstitution - Missense
GPR149ENSG00000174948ENST00000389740p.I392fs*21c.1174delADeletion - Frameshift
BOD1L1ENSG00000038219ENST00000040738p.S2732Tc.8194T>ASubstitution - Missense
YY2ENSG00000230797ENST00000429584p.T83Ic.248C>TSubstitution - Missense
SETD1AENSG00000099381ENST00000262519p.N239Nc.717C>TSubstitution - coding silent
ERCC2ENSG00000104884ENST00000391945p.L706Fc.2116C>TSubstitution - Missense
PCSK1ENSG00000175426ENST00000311106p.A666Tc.1996G>ASubstitution - Missense
UBXN1ENSG00000162191ENST00000301935p.S77Fc.230C>TSubstitution - Missense
GRIP1ENSG00000155974ENST00000359742p.Q842Qc.2526G>ASubstitution - coding silent
CRB1ENSG00000134376ENST00000535699p.I78Tc.233T>CSubstitution - Missense
MMEL1ENSG00000142606ENST00000378412p.Q242Rc.725A>GSubstitution - Missense
CHD5ENSG00000116254ENST00000378021p.Y590Yc.1770C>TSubstitution - coding silent
CLEC16AENSG00000038532ENST00000409552p.Q803*c.2407C>TSubstitution - Nonsense
ABCA8ENSG00000141338ENST00000430352p.S268Fc.803C>TSubstitution - Missense
CCDC102BENSG00000150636ENST00000584156p.R93Rc.277C>ASubstitution - coding silent
CCDC102BENSG00000150636ENST00000358653p.R93Rc.277C>ASubstitution - coding silent
PDE4AENSG00000065989ENST00000380702p.E494Ec.1482G>ASubstitution - coding silent
ZNF429ENSG00000197013ENST00000358491p.E540Dc.1620A>CSubstitution - Missense
EML2ENSG00000125746ENST00000536630p.?c.1563+7C>AUnknown
PAF1ENSG00000006712ENST00000595564p.R261Qc.782G>ASubstitution - Missense
NLRP7ENSG00000167634ENST00000446217p.K407Nc.1221G>CSubstitution - Missense
KIR2DL3ENSG00000243772ENST00000434419p.Q92Ec.274C>GSubstitution - Missense
ENST00000335056_v70p.T73Ac.217A>GSubstitution - Missense
ASXL1ENSG00000171456ENST00000306058p.A606Ac.1818C>ASubstitution - coding silent
COL20A1ENSG00000101203ENST00000422202p.?c.2231-4C>GUnknown
MAP4K4ENSG00000071054ENST00000350198p.P591Pc.1773T>CSubstitution - coding silent
DOCK10ENSG00000135905ENST00000409592p.I513Vc.1537A>GSubstitution - Missense
ESR2ENSG00000140009ENST00000357782p.I32fs*7c.92_93insTAInsertion - Frameshift
MYO10ENSG00000145555ENST00000513610p.?c.4560_4666+70del177Unknown
PODXLENSG00000128567ENST00000537928p.S31_Q32insPSc.64_65insCGTCGCInsertion - In frame
ZCCHC14ENSG00000140948ENST00000561928p.P249Pc.747C>TSubstitution - coding silent
CASTENSG00000153113ENST00000395813p.S305Sc.915T>CSubstitution - coding silent
MUC17ENSG00000169876ENST00000306151p.T1030Nc.3089C>ASubstitution - Missense
DENND2AENSG00000146966ENST00000492720p.K620Ec.1858A>GSubstitution - Missense
DENND2AENSG00000146966ENST00000492720p.V250Mc.748G>ASubstitution - Missense
ENST00000257665_v70p.F1026Fc.3078C>TSubstitution - coding silent
C7orf25ENSG00000136197ENST00000431882p.G151Dc.452G>ASubstitution - Missense
ENST00000259410p.T361Tc.1083C>TSubstitution - coding silent
TRPM6ENSG00000119121ENST00000449912p.?c.1995-3C>AUnknown
MAP3K15ENSG00000180815ENST00000338883p.P693Pc.2079T>ASubstitution - coding silent
DLG3ENSG00000082458ENST00000194900p.C200Cc.600T>CSubstitution - coding silent
MTORENSG00000198793ENST00000361445p.I1536Ic.4608C>TSubstitution - coding silent
GPALPP1ENSG00000133114ENST00000379151p.R167Tc.500G>CSubstitution - Missense
ZNF878ENSG00000257446ENST00000547628p.R467Hc.1400G>ASubstitution - Missense
ADPGKENSG00000159322ENST00000311669p.T376Ac.1126A>GSubstitution - Missense
MIB2ENSG00000197530ENST00000355826p.R722Pc.2165G>CSubstitution - Missense
TBRG1ENSG00000154144ENST00000441174p.P288Pc.864A>GSubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.S4808Lc.14423C>TSubstitution - Missense
ATP8A2ENSG00000132932ENST00000381655p.?c.891+9T>CUnknown
POGKENSG00000143157ENST00000367875p.E59*c.175G>TSubstitution - Nonsense
CLEC16AENSG00000038532ENST00000409790p.Q821*c.2461C>TSubstitution - Nonsense
PRKAA2ENSG00000162409ENST00000371244p.A343Sc.1027G>TSubstitution - Missense
INTS10ENSG00000104613ENST00000397977p.?c.301+1_302-1del702Unknown
URB1ENSG00000142207ENST00000382751p.T1975Ic.5924C>TSubstitution - Missense
PTPN13ENSG00000163629ENST00000436978p.A1547Vc.4640C>TSubstitution - Missense
GPR82ENSG00000171657ENST00000302548p.E181fs*87c.540_541insTACAInsertion - Frameshift
ABCA10ENSG00000154263ENST00000269081p.E1207Qc.3619G>CSubstitution - Missense
TET3ENSG00000187605ENST00000409262p.R751Rc.2253C>TSubstitution - coding silent
DMDENSG00000198947ENST00000378677p.K1771Nc.5313G>TSubstitution - Missense
C7orf62ENSG00000164645ENST00000297203p.F125fs*5c.375delTDeletion - Frameshift
MAZENSG00000103495ENST00000322945p.?c.192+8G>AUnknown
OR2A7ENSG00000243896ENST00000493325p.M80Lc.238A>CSubstitution - Missense
UBR5ENSG00000104517ENST00000520539p.R1907Hc.5720G>ASubstitution - Missense
PDGFAENSG00000197461ENST00000354513p.R78Wc.232C>TSubstitution - Missense
PLEKHG2ENSG00000090924ENST00000458508p.E590Kc.1768G>ASubstitution - Missense
EXOC3ENSG00000180104ENST00000315013p.R204Hc.611G>ASubstitution - Missense
ENST00000371401p.A318Ac.954C>TSubstitution - coding silent
OR1J1ENSG00000136834ENST00000259357p.I174Ic.522C>TSubstitution - coding silent
PPIP5K2ENSG00000145725ENST00000358359p.?c.2637+5A>TUnknown
ST8SIA1ENSG00000111728ENST00000396037p.A291Vc.872C>TSubstitution - Missense
ENST00000451458p.V320Ic.958G>ASubstitution - Missense
VPS13AENSG00000197969ENST00000376634p.K752Ec.2254A>GSubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.G1478Rc.4432G>ASubstitution - Missense
PTPRDENSG00000153707ENST00000355233p.G1072Rc.3214G>ASubstitution - Missense
PTPRDENSG00000153707ENST00000381196p.G1478Rc.4432G>ASubstitution - Missense
PTPRDENSG00000153707ENST00000537002p.G1068Rc.3202G>ASubstitution - Missense
CCDC97ENSG00000142039ENST00000269967p.E249Dc.747G>TSubstitution - Missense
CYP2A7ENSG00000198077ENST00000301146p.G121Gc.363G>ASubstitution - coding silent
ENST00000297053p.Q10Qc.30A>GSubstitution - coding silent
GPR112ENSG00000156920ENST00000394143p.W3005fs*16c.9013delTDeletion - Frameshift
NM_005491.1p.Q429_A430insQc.1286_1287insGCAInsertion - In frame
DNAH5ENSG00000039139ENST00000265104p.S2725Fc.8174C>TSubstitution - Missense
ENST00000544403p.I814Ic.2442C>ASubstitution - coding silent
ITKENSG00000113263ENST00000422843p.I479Ic.1437C>ASubstitution - coding silent
MYO10ENSG00000145555ENST00000274203p.?c.4560_4666+70del177Unknown
ENST00000539307p.R52Lc.155G>TSubstitution - Missense
ENST00000539307p.S39Rc.117C>GSubstitution - Missense
ORC5ENSG00000164815ENST00000447452p.P2Pc.6C>ASubstitution - coding silent
CFTRENSG00000001626ENST00000003084p.?c.1210-5_1235>28Unknown
THSD7AENSG00000005108ENST00000423059p.E591Kc.1771G>ASubstitution - Missense
OR2A7ENSG00000243896ENST00000493325p.M80Lc.238A>CSubstitution - Missense
ABCA13ENSG00000179869ENST00000435803p.D2792Vc.8375A>TSubstitution - Missense
ENST00000319379p.D2737Vc.8210A>TSubstitution - Missense
VPS13BENSG00000132549ENST00000358544p.C425Fc.1274G>TSubstitution - Missense
VPS13BENSG00000132549ENST00000357162p.C425Fc.1274G>TSubstitution - Missense
RRM2BENSG00000048392ENST00000251810p.E32Qc.94G>CSubstitution - Missense
RGS22ENSG00000132554ENST00000360863p.R867Hc.2600G>ASubstitution - Missense
RGS22ENSG00000132554ENST00000360863p.R867Hc.2600G>ASubstitution - Missense
ENST00000309900p.N446Sc.1337A>GSubstitution - Missense
ENST00000316490p.N2840Sc.8519A>GSubstitution - Missense
CYP4F11ENSG00000171903ENST00000248041p.?c.198+9G>CUnknown
NWD1ENSG00000188039ENST00000524140p.G679Gc.2037C>TSubstitution - coding silent
L3MBTL1ENSG00000185513ENST00000427442p.P706Pc.2118C>TSubstitution - coding silent
L3MBTL1ENSG00000185513ENST00000373134p.P643Pc.1929C>TSubstitution - coding silent
ARHGAP15ENSG00000075884ENST00000295095p.A418Ac.1254C>ASubstitution - coding silent
RIF1ENSG00000080345ENST00000444746p.D1789Dc.5367T>CSubstitution - coding silent
FRYLENSG00000075539ENST00000503238p.P142Sc.424C>TSubstitution - Missense
GSX2ENSG00000180613ENST00000326902p.R231Wc.691C>TSubstitution - Missense
ANKMY2ENSG00000106524ENST00000306999p.V391Ic.1171G>ASubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.P194Pc.582C>TSubstitution - coding silent
LRP2ENSG00000081479ENST00000263816p.C292Sc.875G>CSubstitution - Missense
COL22A1ENSG00000169436ENST00000303045p.V197Fc.589G>TSubstitution - Missense
KIF12ENSG00000136883ENST00000374118p.T228Tc.684C>TSubstitution - coding silent
C5ENSG00000106804ENST00000223642p.L104Fc.312G>TSubstitution - Missense
RC3H2ENSG00000056586ENST00000335387p.Y449Hc.1345T>CSubstitution - Missense
PHYHD1ENSG00000175287ENST00000308941p.?c.316+7A>GUnknown
ENST00000318560_v70p.R876Gc.2626A>GSubstitution - Missense
ABL1ENSG00000097007ENST00000318560p.R876Gc.2626A>GSubstitution - Missense
ABL1ENSG00000097007ENST00000372348p.N115Sc.344A>GSubstitution - Missense
FNIP2ENSG00000052795ENST00000264433p.T829Mc.2486C>TSubstitution - Missense
PROM1ENSG00000007062ENST00000447510p.?c.2582+9A>CUnknown
LCORLENSG00000178177ENST00000382226p.V602Lc.1804G>CSubstitution - Missense
TLX3ENSG00000164438ENST00000296921p.P35Pc.105G>ASubstitution - coding silent
PAIP1ENSG00000172239ENST00000306846p.?c.972+6T>GUnknown
SLC35B2ENSG00000157593ENST00000393812p.K78Ec.232A>GSubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.R579Rc.1737G>CSubstitution - coding silent
LRRC27ENSG00000148814ENST00000432555p.I314Tc.941T>CSubstitution - Missense
ENST00000454161p.T510Tc.1530C>TSubstitution - coding silent
MYOFENSG00000138119ENST00000371501p.E522Qc.1564G>CSubstitution - Missense
TRIM21ENSG00000132109ENST00000543625p.?c.409-8C>AUnknown
NM_032681.1p.?c.382+3G>AUnknown
TRIM48ENSG00000150244ENST00000417545p.A208Vc.623C>TSubstitution - Missense
NM_024114.2p.A192Vc.575C>TSubstitution - Missense
OR51B4ENSG00000183251ENST00000380224p.L154Fc.462G>TSubstitution - Missense
OR5T2ENSG00000181718ENST00000313264p.S244Sc.732T>ASubstitution - coding silent
NPAS2ENSG00000170485ENST00000335681p.?c.907+3G>AUnknown
NPAS2ENSG00000170485ENST00000542504p.?c.1102+3G>AUnknown
RANBP2ENSG00000153201ENST00000283195p.E2216Vc.6647A>TSubstitution - Missense
PPIP5K2ENSG00000145725ENST00000321521p.?c.2637+5A>TUnknown
SLC25A46ENSG00000164209ENST00000355943p.L186Lc.558G>ASubstitution - coding silent
ENSG00000172901ENST00000357872p.G8Gc.24C>TSubstitution - coding silent
FAM65AENSG00000039523ENST00000379312p.P46Lc.137C>TSubstitution - Missense
RTKNENSG00000114993ENST00000305557p.L251Lc.753C>TSubstitution - coding silent
RETSATENSG00000042445ENST00000295802p.A467Tc.1399G>ASubstitution - Missense
RETSATENSG00000042445ENST00000295802p.T466Sc.1397C>GSubstitution - Missense
RAP2BENSG00000181467ENST00000323534p.V85Vc.255C>TSubstitution - coding silent
SLC22A2ENSG00000112499ENST00000366953p.E70Qc.208G>CSubstitution - Missense
HOXA9ENSG00000078399ENST00000343483p.G117Gc.351T>GSubstitution - coding silent
CHST12ENSG00000136213ENST00000258711p.R85Gc.253A>GSubstitution - Missense
HOXA11ENSG00000005073ENST00000006015p.P97_A99delPSAc.289_297delCCCAGCGCGDeletion - In frame
DMDENSG00000198947ENST00000378677p.K1771Nc.5313G>TSubstitution - Missense
AMMECR1LENSG00000144233ENST00000272647p.L183Lc.549G>CSubstitution - coding silent
SU_SPEGp.R3005Wc.9013C>TSubstitution - Missense
DOCK10ENSG00000135905ENST00000258390p.I519Vc.1555A>GSubstitution - Missense
CCL20ENSG00000115009ENST00000358813p.K94Rc.281A>GSubstitution - Missense
SPP2ENSG00000072080ENST00000373368p.L15Lc.43T>CSubstitution - coding silent
CAND2ENSG00000144712ENST00000295989p.D552Dc.1656C>TSubstitution - coding silent
ITPR1ENSG00000150995ENST00000302640p.L1077Ic.3229C>ASubstitution - Missense
ITPR1ENSG00000150995ENST00000357086p.L1083Ic.3247C>ASubstitution - Missense
ITPR1ENSG00000150995ENST00000456211p.L1068Ic.3202C>ASubstitution - Missense
ADCY2ENSG00000078295ENST00000537121p.E411Kc.1231G>ASubstitution - Missense
BRPF3ENSG00000096070ENST00000357641p.?c.3083+3A>GUnknown
DNAH8ENSG00000124721ENST00000359357p.L2242Lc.6726G>ASubstitution - coding silent
LRCH4ENSG00000077454ENST00000310300p.?c.1364+6T>CUnknown
TEX11ENSG00000120498ENST00000374333p.D832Ec.2496T>GSubstitution - Missense
ZNF429ENSG00000197013ENST00000358491p.E540Kc.1618G>ASubstitution - Missense
RELBENSG00000104856ENST00000221452p.R211Qc.632G>ASubstitution - Missense
ELSPBP1ENSG00000169393ENST00000339841p.W207*c.620G>ASubstitution - Nonsense
KPTNENSG00000118162ENST00000338134p.F53Fc.159C>TSubstitution - coding silent
RAB6CENSG00000222014ENST00000410061p.P175Lc.524C>TSubstitution - Missense
TBC1D9ENSG00000109436ENST00000442267p.L1024Lc.3070T>CSubstitution - coding silent
TBC1D9ENSG00000109436ENST00000442267p.L1024Lc.3070T>CSubstitution - coding silent
GLRBENSG00000109738ENST00000264428p.L262Mc.784C>ASubstitution - Missense
SLIT2ENSG00000145147ENST00000504154p.R2Hc.5G>ASubstitution - Missense
HSD17B4ENSG00000133835ENST00000256216p.Y365*c.1095T>GSubstitution - Nonsense
RAD50ENSG00000113522ENST00000265335p.Q404Rc.1211A>GSubstitution - Missense
SLC27A6ENSG00000113396ENST00000262462p.D257Ac.770A>CSubstitution - Missense
POU5F2ENSG00000248483ENST00000510627p.P319Ac.955C>GSubstitution - Missense
CASTENSG00000153113ENST00000309190p.S200Sc.600T>CSubstitution - coding silent
CNDP2ENSG00000133313ENST00000324262p.?c.1210+8G>AUnknown
AIM1ENSG00000112297ENST00000369066p.P597fs*47c.1786delCDeletion - Frameshift
ROS1ENSG00000047936ENST00000368508p.W133Rc.397T>CSubstitution - Missense
DSTENSG00000151914ENST00000370769p.T700Tc.2100A>GSubstitution - coding silent
COL15A1ENSG00000204291ENST00000375001p.A207Vc.620C>TSubstitution - Missense
EPB41L4BENSG00000095203ENST00000374566p.Q827Pc.2480A>CSubstitution - Missense
RNF183ENSG00000165188ENST00000297894p.P14Pc.42C>TSubstitution - coding silent
KIAA1009ENSG00000135315ENST00000403245p.D258Vc.773A>TSubstitution - Missense
MDN1ENSG00000112159ENST00000369393p.G3551Sc.10651G>ASubstitution - Missense
TAF15ENSG00000172660ENST00000311979p.G500Gc.1500C>TSubstitution - coding silent
SLC3A1ENSG00000138079ENST00000260649p.I105Vc.313A>GSubstitution - Missense
CD22ENSG00000012124ENST00000085219p.I386Tc.1157T>CSubstitution - Missense
ENSG00000272333ENST00000222270p.T1723Tc.5169G>ASubstitution - coding silent
MRPL54ENSG00000183617ENST00000330133p.P88Pc.264G>ASubstitution - coding silent
SIPA1L3ENSG00000105738ENST00000222345p.T1198Tc.3594G>ASubstitution - coding silent
ZNF793ENSG00000188227ENST00000445217p.Q274Kc.820C>ASubstitution - Missense
PDE6AENSG00000132915ENST00000255266p.R652Cc.1954C>TSubstitution - Missense
FCN2ENSG00000160339ENST00000291744p.R192Rc.576T>CSubstitution - coding silent
TRPM6ENSG00000119121ENST00000451710p.?c.2010-3C>AUnknown
TRPM6ENSG00000119121ENST00000360774p.?c.2010-3C>AUnknown
ZSCAN30ENSG00000186814ENST00000333206p.P267Ac.799C>GSubstitution - Missense
PDE4AENSG00000065989ENST00000293683p.E490Ec.1470G>ASubstitution - coding silent
ZNF20ENSG00000132010ENST00000334213p.K533Kc.1599G>ASubstitution - coding silent
ELAVL3ENSG00000196361ENST00000359227p.I264Ic.792C>TSubstitution - coding silent
ZBTB21ENSG00000173276ENST00000398499p.H405_R406insHc.1212_1213insCATInsertion - In frame
ROBO2ENSG00000185008ENST00000487694p.E960Qc.2878G>CSubstitution - Missense
PROS1ENSG00000184500ENST00000394236p.N168Nc.504T>CSubstitution - coding silent
PARM1ENSG00000169116ENST00000307428p.S113Nc.338G>ASubstitution - Missense
PARM1ENSG00000169116ENST00000307428p.S172Nc.515G>ASubstitution - Missense
COX18ENSG00000163626ENST00000295890p.L146Lc.438C>TSubstitution - coding silent
COX18ENSG00000163626ENST00000295890p.G138Gc.414G>ASubstitution - coding silent
CDKL2ENSG00000138769ENST00000429927p.R75Rc.225A>GSubstitution - coding silent
RPGRIP1LENSG00000103494ENST00000379925p.K473delKc.1419_1421delAAADeletion - In frame
LTN1ENSG00000198862ENST00000361371p.P361Lc.1082C>TSubstitution - Missense
TMPRSS15ENSG00000154646ENST00000284885p.C810Gc.2428T>GSubstitution - Missense
URB1ENSG00000142207ENST00000382751p.T1975Ic.5924C>TSubstitution - Missense
KRTAP13-1ENSG00000198390ENST00000355459p.S25delSc.68_70delCCTDeletion - In frame
HLCSENSG00000159267ENST00000399120p.G688Gc.2064C>ASubstitution - coding silent
CNGA1ENSG00000198515ENST00000358519p.I396Tc.1187T>CSubstitution - Missense
CLDN12ENSG00000157224ENST00000394605p.M98Tc.293T>CSubstitution - Missense
TRRAPENSG00000196367ENST00000359863p.T3789Mc.11366C>TSubstitution - Missense
PPP1R16AENSG00000160972ENST00000292539p.E86Dc.258A>TSubstitution - Missense
SLC7A2ENSG00000003989ENST00000470360p.N611Kc.1833C>ASubstitution - Missense
SLC7A2ENSG00000003989ENST00000494857p.N572Kc.1716C>ASubstitution - Missense
MTUS1ENSG00000129422ENST00000381861p.E319Ec.957A>GSubstitution - coding silent
ENST00000360191p.R147Sc.441G>CSubstitution - Missense
NLRP7ENSG00000167634ENST00000328092p.K379Nc.1137G>CSubstitution - Missense
NLRP7ENSG00000167634ENST00000448121p.K379Nc.1137G>CSubstitution - Missense
ASXL1ENSG00000171456ENST00000375687p.A611Ac.1833C>ASubstitution - coding silent
DGCR14ENSG00000100056ENST00000252137p.N381Sc.1142A>GSubstitution - Missense
CECR2ENSG00000099954ENST00000262608p.F727Fc.2181T>CSubstitution - coding silent
CECR2ENSG00000099954ENST00000400585p.F726Fc.2178T>CSubstitution - coding silent
METAP1DENSG00000172878ENST00000315796p.?c.802+8A>GUnknown
DGCR8ENSG00000128191ENST00000351989p.P96Lc.287C>TSubstitution - Missense
ALS2ENSG00000003393ENST00000264276p.G1188Gc.3564T>CSubstitution - coding silent
CTLA4ENSG00000163599ENST00000302823p.L47Lc.141G>ASubstitution - coding silent
ENST00000388944p.N513Nc.1539T>CSubstitution - coding silent
ANO7ENSG00000146205ENST00000274979p.P754Pc.2262G>CSubstitution - coding silent
TMEM131ENSG00000075568ENST00000186436p.A1338Ac.4014G>ASubstitution - coding silent
ANKRD36ENSG00000135976ENST00000420699p.R1472fs*3c.4406_4410delAAAAGDeletion - Frameshift
ANKRD36ENSG00000135976ENST00000461153p.R1275fs*3c.3815_3819delAAAAGDeletion - Frameshift
ANKRD36ENSG00000135976ENST00000461153p.K1272Kc.3816A>GSubstitution - coding silent
ANKRD36ENSG00000135976ENST00000420699p.K1470Kc.4410G>ASubstitution - coding silent
ANKRD36ENSG00000135976ENST00000461153p.K1273Kc.3819G>ASubstitution - coding silent
GRIN2AENSG00000183454ENST00000396573p.I876Tc.2627T>CSubstitution - Missense
COL20A1ENSG00000101203ENST00000358894p.?c.2210-4C>GUnknown
COL20A1ENSG00000101203ENST00000326996p.?c.941-6G>AUnknown
TPTEENSG00000166157ENST00000298232p.R180Gc.538C>GSubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.K1371Ec.4111A>GSubstitution - Missense
TRAPPC12ENSG00000171853ENST00000382110p.V286Ac.857T>CSubstitution - Missense
RARBENSG00000077092ENST00000404969p.N138Kc.414T>ASubstitution - Missense
WDR1ENSG00000071127ENST00000499869p.?c.558+6T>GUnknown
ENST00000400001p.?c.558+6T>GUnknown
SPARCL1ENSG00000152583ENST00000282470p.Q386Rc.1157A>GSubstitution - Missense
GAKENSG00000178950ENST00000314167p.?c.525+5_525+20del16Unknown
ANK1ENSG00000029534ENST00000265709p.R1529Qc.4586G>ASubstitution - Missense
ANK1ENSG00000029534ENST00000347528p.R1488Qc.4463G>ASubstitution - Missense
ENST00000354247p.S245Gc.733A>GSubstitution - Missense
SFRP1ENSG00000104332ENST00000220772p.P62Pc.186C>GSubstitution - coding silent
CCNB3ENSG00000147082ENST00000376042p.V652Vc.1956G>ASubstitution - coding silent
ZNF419ENSG00000105136ENST00000424930p.C461Rc.1381T>CSubstitution - Missense
ABCA10ENSG00000154263ENST00000269081p.N700Nc.2100C>TSubstitution - coding silent
ABCA5ENSG00000154265ENST00000392676p.D1638Dc.4914T>CSubstitution - coding silent
ABCA9ENSG00000154258ENST00000340001p.L287Rc.860T>GSubstitution - Missense
GPATCH3ENSG00000198746ENST00000361720p.D358Gc.1073A>GSubstitution - Missense
PGM1ENSG00000079739ENST00000371083p.E90Kc.268G>ASubstitution - Missense
GIPC2ENSG00000137960ENST00000370759p.R40Rc.120C>ASubstitution - coding silent
LMO4ENSG00000143013ENST00000370544p.C47Cc.141C>TSubstitution - coding silent
COL24A1ENSG00000171502ENST00000370571p.K850Nc.2550A>CSubstitution - Missense
COL24A1ENSG00000171502ENST00000370571p.S595Tc.1783T>ASubstitution - Missense
DAAM1ENSG00000100592ENST00000351081p.L676Lc.2028G>ASubstitution - coding silent
ESR2ENSG00000140009ENST00000341099p.I32fs*7c.92_93insTAInsertion - Frameshift
ENSG00000273259ENST00000553947p.?c.719-10C>AUnknown
ENSG00000273259ENST00000393078p.?c.644-10C>AUnknown
C1orf170ENSG00000187642ENST00000341290p.P608fs*11c.1816_1817insGInsertion - Frameshift
ZDHHC20ENSG00000180776ENST00000382466p.P322Pc.966T>CSubstitution - coding silent
C9ENSG00000113600ENST00000263408p.D84Nc.250G>ASubstitution - Missense
USP10ENSG00000103194ENST00000219473p.K376Kc.1128G>ASubstitution - coding silent
NGFRENSG00000064300ENST00000172229p.V77Mc.229G>ASubstitution - Missense
PCSK2ENSG00000125851ENST00000262545p.G73Gc.219C>TSubstitution - coding silent
PDYNENSG00000101327ENST00000217305p.D78Dc.234C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.S3376Sc.10128G>ASubstitution - coding silent
TTNENSG00000155657ENST00000359218p.S3330Sc.9990G>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.S3330Sc.9990G>ASubstitution - coding silent
TTNENSG00000155657ENST00000360870p.T4521Ac.13561A>GSubstitution - Missense
NT5C1BENSG00000185013ENST00000416783p.G71Ac.212G>CSubstitution - Missense
RDH14ENSG00000240857ENST00000381249p.E230*c.688G>TSubstitution - Nonsense
ANGPT2ENSG00000091879ENST00000325203p.?c.567-4C>TUnknown
ANGPT2ENSG00000091879ENST00000325203p.?c.567-4C>TUnknown
CHD7ENSG00000171316ENST00000423902p.G1617Gc.4851T>GSubstitution - coding silent
KIAA1210ENSG00000250423ENST00000402510p.S1393Sc.4179T>CSubstitution - coding silent
FAM9CENSG00000187268ENST00000380625p.G160Gc.480G>ASubstitution - coding silent
SUSD3ENSG00000157303ENST00000375472p.L129Lc.387C>TSubstitution - coding silent
DMRT3ENSG00000064218ENST00000190165p.D457Dc.1371C>TSubstitution - coding silent
AMMECR1ENSG00000101935ENST00000262844p.?c.700-2A>GUnknown
EVPLENSG00000167880ENST00000301607p.V1281Ic.3841G>ASubstitution - Missense
ENST00000329047_v70p.?c.859+10C>TUnknown
SEPT9ENSG00000184640ENST00000329047p.?c.859+10C>TUnknown
OAZ1ENSG00000104904ENST00000322297p.D209Dc.627C>TSubstitution - coding silent
ZNF98ENSG00000197360ENST00000357774p.S502Cc.1505C>GSubstitution - Missense
SIGLEC10ENSG00000142512ENST00000439889p.E574*c.1720G>TSubstitution - Nonsense
SIGLEC10ENSG00000142512ENST00000339313p.E632*c.1894G>TSubstitution - Nonsense
KIR2DL3ENSG00000243772ENST00000342376p.Q92Ec.274C>GSubstitution - Missense
KIR3DX1ENSG00000104970ENST00000335056p.T73Ac.217A>GSubstitution - Missense
GNASENSG00000087460ENST00000371100p.E52Kc.154G>ASubstitution - Missense
POT1ENSG00000128513ENST00000357628p.V326Ac.977T>CSubstitution - Missense
PODXLENSG00000128567ENST00000378555p.S31_Q32insPSc.64_65insCGTCGCInsertion - In frame
KLHDC10ENSG00000128607ENST00000335420p.L400Pc.1199T>CSubstitution - Missense
FAM205AENSG00000205108ENST00000378788p.P345Pc.1035T>CSubstitution - coding silent
FAM205AENSG00000205108ENST00000378788p.P345Pc.1035T>CSubstitution - coding silent
DOCK8ENSG00000107099ENST00000432829p.M867Ic.2601G>ASubstitution - Missense
ANKRD18AENSG00000180071ENST00000399703p.D858Nc.2572G>ASubstitution - Missense
DOCK8ENSG00000107099ENST00000453981p.M935Ic.2805G>ASubstitution - Missense
INTS10ENSG00000104613ENST00000397977p.?c.127_130-4del608Unknown
INTS10ENSG00000104613ENST00000397977p.?c.197+1_198-1del1230Unknown
CSMD1ENSG00000183117ENST00000537824p.A2535Ac.7605C>TSubstitution - coding silent
ENST00000318252p.A2264Ac.6792C>TSubstitution - coding silent
LAPTM4BENSG00000104341ENST00000445593p.L119Lc.357C>ASubstitution - coding silent
C17orf97ENSG00000187624ENST00000360127p.G264Gc.792C>TSubstitution - coding silent
C17orf97ENSG00000187624ENST00000360127p.G264Gc.792C>TSubstitution - coding silent
DHRS13ENSG00000167536ENST00000378895p.Y20Yc.60C>TSubstitution - coding silent
ACTG1ENSG00000184009ENST00000331925p.S365Sc.1095G>ASubstitution - coding silent
ENST00000436173p.P1026Pc.3078C>TSubstitution - coding silent
RPTORENSG00000141564ENST00000306801p.D1101Yc.3301G>TSubstitution - Missense
PER1ENSG00000179094ENST00000317276p.P899Pc.2697C>TSubstitution - coding silent
SMCHD1ENSG00000101596ENST00000320876p.L911Ic.2731T>ASubstitution - Missense
SMCHD1ENSG00000101596ENST00000261598p.L911Ic.2731T>ASubstitution - Missense
SMCHD1ENSG00000101596ENST00000261598p.L359Ic.1075T>ASubstitution - Missense
HTRA1ENSG00000166033ENST00000368984p.R464Mc.1391G>TSubstitution - Missense
TACC2ENSG00000138162ENST00000453444p.L1865Fc.5593C>TSubstitution - Missense
SCDENSG00000099194ENST00000370355p.P94fs*56c.279_280insTInsertion - Frameshift
CNNM2ENSG00000148842ENST00000369878p.V220Gc.659T>GSubstitution - Missense
CNNM2ENSG00000148842ENST00000369875p.V220Gc.659T>GSubstitution - Missense
SLC5A8ENSG00000256870ENST00000536262p.L443Ic.1327C>ASubstitution - Missense
CLEC1BENSG00000165682ENST00000298527p.?c.164-5C>TUnknown
LRRK2ENSG00000188906ENST00000298910p.Q1779Kc.5335C>ASubstitution - Missense
SU_LRRK2p.Q1742Kc.5224C>ASubstitution - Missense
C12orf5ENSG00000078237ENST00000179259p.P119Pc.357G>ASubstitution - coding silent
VDRENSG00000111424ENST00000395324p.D282Dc.846C>TSubstitution - coding silent
SCAF11ENSG00000139218ENST00000369367p.C542Rc.1624T>CSubstitution - Missense
TEX26ENSG00000175664ENST00000380473p.T70Tc.210A>GSubstitution - coding silent
ZMYM4ENSG00000146463ENST00000314607p.L1063Vc.3187C>GSubstitution - Missense
ZMYM1ENSG00000197056ENST00000373330p.Y700Yc.2100T>CSubstitution - coding silent
ADPRHL2ENSG00000116863ENST00000373178p.H357Hc.1071C>TSubstitution - coding silent
DUSP12ENSG00000081721ENST00000367943p.E73Qc.217G>CSubstitution - Missense
CEP350ENSG00000135837ENST00000367607p.N2994Hc.8980A>CSubstitution - Missense
HTR3BENSG00000149305ENST00000260191p.I13Ic.39C>TSubstitution - coding silent
BIRC2ENSG00000110330ENST00000227758p.A165Ac.495A>GSubstitution - coding silent
TRPM5ENSG00000070985ENST00000155858p.D790Dc.2370C>TSubstitution - coding silent
SLC17A6ENSG00000091664ENST00000263160p.I235Fc.703A>TSubstitution - Missense
KCNC4ENSG00000116396ENST00000438661p.E554delEc.1657_1659delGAGDeletion - In frame
NBPF12ENSG00000186275ENST00000442909p.?c.2772-7T>GUnknown
PAX7ENSG00000009709ENST00000420770p.G412Sc.1234G>ASubstitution - Missense
ENST00000270720p.L436Pc.1307T>CSubstitution - Missense
CRB1ENSG00000134376ENST00000367400p.I147Tc.440T>CSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.D2383Dc.7149C>TSubstitution - coding silent
SF1ENSG00000168066ENST00000377390p.P589Pc.1767G>ASubstitution - coding silent
CTSWENSG00000172543ENST00000307886p.?c.539-7G>AUnknown
RIMS3ENSG00000117016ENST00000372683p.?c.715-4G>AUnknown
P2RX4ENSG00000135124ENST00000337233p.?c.427+5G>CUnknown
RNF10ENSG00000022840ENST00000325954p.K720Ec.2158A>GSubstitution - Missense
AP4B1ENSG00000134262ENST00000369569p.R497Hc.1490G>ASubstitution - Missense
CD101ENSG00000134256ENST00000369470p.I972Mc.2916C>GSubstitution - Missense
TNFRSF8ENSG00000120949ENST00000263932p.?c.513-6C>TUnknown
ANXA9ENSG00000143412ENST00000368947p.M108Ic.324G>ASubstitution - Missense
LINGO4ENSG00000213171ENST00000368820p.A537Vc.1610C>TSubstitution - Missense
DPTENSG00000143196ENST00000367817p.E155Kc.463G>ASubstitution - Missense
NADKENSG00000008130ENST00000342348p.P168Pc.504G>ASubstitution - coding silent
MAP1AENSG00000166963ENST00000300231p.K1363Nc.4089G>CSubstitution - Missense
MKNK1ENSG00000079277ENST00000371946p.T385Tc.1155G>ASubstitution - coding silent
SPATA6ENSG00000132122ENST00000371847p.R311Kc.932G>ASubstitution - Missense
FOXD2ENSG00000186564ENST00000334793p.S116*c.347C>ASubstitution - Nonsense
ORC1ENSG00000085840ENST00000371568p.E774Kc.2320G>ASubstitution - Missense
MRPL37ENSG00000116221ENST00000360840p.R215Qc.644G>ASubstitution - Missense
BCAT1ENSG00000060982ENST00000261192p.?c.280-7T>CUnknown
ENST00000228245p.T354Ic.1061C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.V1646Ac.4937T>CSubstitution - Missense
CACNA1CENSG00000151067ENST00000399617p.V1605Ac.4814T>CSubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.V1683Ac.5048T>CSubstitution - Missense
CACNA1CENSG00000151067ENST00000399634p.V1605Ac.4814T>CSubstitution - Missense
FLGENSG00000143631ENST00000368799p.G1109fs*13c.3321delADeletion - Frameshift
CREB3L4ENSG00000143578ENST00000368603p.L187Pc.560T>CSubstitution - Missense
MUC1ENSG00000185499ENST00000368395p.S213Sc.639A>TSubstitution - coding silent
DAP3ENSG00000132676ENST00000368336p.R320Wc.958C>TSubstitution - Missense
IPO9ENSG00000198700ENST00000361565p.L298Lc.892C>TSubstitution - coding silent
LEO1ENSG00000166477ENST00000299601p.?c.58+4G>AUnknown
NAALAD2ENSG00000077616ENST00000534061p.G188Vc.563G>TSubstitution - Missense
TMEM132CENSG00000181234ENST00000435159p.R580Qc.1739G>ASubstitution - Missense
GSG1ENSG00000111305ENST00000432710p.E312*c.934G>TSubstitution - Nonsense
PDE4DIPENSG00000178104ENST00000369356p.P1157Sc.3469C>TSubstitution - Missense
PDE4DIPENSG00000178104ENST00000369354p.P1157Sc.3469C>TSubstitution - Missense
MMEL1ENSG00000142606ENST00000288709p.Q233Rc.698A>GSubstitution - Missense
TRAPPC8ENSG00000153339ENST00000283351p.S1319Lc.3956C>TSubstitution - Missense
KLF6ENSG00000067082ENST00000497571p.R198Rc.594G>ASubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.V272Mc.814G>ASubstitution - Missense
CHAC2ENSG00000143942ENST00000295304p.E72delEc.214_216delGAADeletion - In frame
DENND2AENSG00000146966ENST00000275884p.V250Mc.748G>ASubstitution - Missense
PRKAA2ENSG00000162409ENST00000371244p.A343Sc.1027G>TSubstitution - Missense
OR5I1ENSG00000167825ENST00000301532p.A119Tc.355G>ASubstitution - Missense
BIRC6ENSG00000115760ENST00000421745p.A4796Gc.14387C>GSubstitution - Missense
PAF1ENSG00000006712ENST00000221265p.R271Qc.812G>ASubstitution - Missense
BMP7ENSG00000101144ENST00000395863p.R182Wc.544C>TSubstitution - Missense
MSNENSG00000147065ENST00000360270p.R180Hc.539G>ASubstitution - Missense
ZCCHC14ENSG00000140948ENST00000268616p.S366Lc.1097C>TSubstitution - Missense
OPTCENSG00000188770ENST00000367222p.C131Cc.393C>TSubstitution - coding silent
TUBGCP6ENSG00000128159ENST00000248846p.R690Wc.2068C>TSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.V272Mc.814G>ASubstitution - Missense
NM_000036.1p.R562*c.1684C>TSubstitution - Nonsense
MXI1ENSG00000119950ENST00000332674p.P28Rc.83C>GSubstitution - Missense
PLEKHH2ENSG00000152527ENST00000282406p.R635Qc.1904G>ASubstitution - Missense
ZNF878ENSG00000257446ENST00000547628p.R467Hc.1400G>ASubstitution - Missense
ZNF878ENSG00000257446ENST00000602107p.R514Hc.1541G>ASubstitution - Missense
AMPD1ENSG00000116748ENST00000520113p.R595*c.1783C>TSubstitution - Nonsense
CENPFENSG00000117724ENST00000366955p.K326Ic.977A>TSubstitution - Missense
ESPL1ENSG00000135476ENST00000257934p.V1982Gc.5945T>GSubstitution - Missense
ARID3BENSG00000179361ENST00000346246p.A207Ac.621C>TSubstitution - coding silent
ATP7BENSG00000123191ENST00000242839p.Q826Hc.2478G>TSubstitution - Missense
ANKRD13AENSG00000076513ENST00000261739p.?c.1348+8A>GUnknown
COL11A1ENSG00000060718ENST00000370096p.?c.2917-9C>GUnknown
BMS1ENSG00000165733ENST00000374518p.V87Ac.260T>CSubstitution - Missense
FAM21CENSG00000172661ENST00000374362p.E487delEc.1456_1458delGAADeletion - In frame
MYOFENSG00000138119ENST00000359263p.E522Qc.1564G>CSubstitution - Missense
EXOC6ENSG00000138190ENST00000371552p.L719Lc.2157C>TSubstitution - coding silent
SORL1ENSG00000137642ENST00000260197p.?c.3947-3T>CUnknown
TBRG1ENSG00000154144ENST00000441174p.S2Nc.5G>ASubstitution - Missense
TBRG1ENSG00000154144ENST00000284290p.P137Pc.411A>GSubstitution - coding silent
ENST00000349637p.T2041Ic.6122C>TSubstitution - Missense
DDX25ENSG00000109832ENST00000263576p.L415Lc.1245C>GSubstitution - coding silent
ENST00000349637p.T3090Mc.9269C>TSubstitution - Missense
ENST00000349637p.V3216Fc.9646G>TSubstitution - Missense
TRIM21ENSG00000132109ENST00000254436p.?c.409-8C>AUnknown
LRP4ENSG00000134569ENST00000378623p.R146Hc.437G>ASubstitution - Missense
RAPSNENSG00000165917ENST00000298854p.G47Dc.140G>ASubstitution - Missense
AF274025.1p.N31Sc.92A>GSubstitution - Missense
SCNN1AENSG00000111319ENST00000228916p.P35Pc.105T>CSubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.M7810Ic.23430G>ASubstitution - Missense
COG2ENSG00000135775ENST00000366669p.D519Nc.1555G>ASubstitution - Missense
TARBP1ENSG00000059588ENST00000040877p.S435Sc.1305C>TSubstitution - coding silent
COA6ENSG00000168275ENST00000366613p.P3Pc.9G>ASubstitution - coding silent
CACNA1CENSG00000151067ENST00000347598p.D150Nc.448G>ASubstitution - Missense
CACNA1CENSG00000151067ENST00000344100p.D150Nc.448G>ASubstitution - Missense
DNAJA4ENSG00000140403ENST00000343789p.K32Qc.94A>CSubstitution - Missense
KIAA1024ENSG00000169330ENST00000305428p.T813Ic.2438C>TSubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.M2173Tc.6518T>CSubstitution - Missense
C11orf30ENSG00000158636ENST00000334736p.S1090Nc.3269G>ASubstitution - Missense
DMBT1ENSG00000187908ENST00000368909p.?c.2501-216_3281-218del6494Unknown
ENST00000368915p.?c.2501-216_3281-218del6494Unknown
VENTXENSG00000151650ENST00000325980p.T34Sc.101C>GSubstitution - Missense
HNRNPCENSG00000092199ENST00000320084p.A102Ac.306G>ASubstitution - coding silent
HOMEZENSG00000215271ENST00000357460p.E493Gc.1478A>GSubstitution - Missense
RBM4ENSG00000173933ENST00000310092p.Y205Cc.614A>GSubstitution - Missense
PPP1CAENSG00000172531ENST00000312989p.V234Ic.700G>ASubstitution - Missense
PPP1CAENSG00000172531ENST00000376745p.V223Ic.667G>ASubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.P1110Pc.3330T>GSubstitution - coding silent
RBM20ENSG00000203867ENST00000369519p.R178Rc.532C>ASubstitution - coding silent
PDZD8ENSG00000165650ENST00000334464p.R1021Hc.3062G>ASubstitution - 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