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HTC-C3 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

865 mutations reported
328 synonymous mutations reported
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External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
WDR87ENSG00000171804ENST00000303868p.R791Cc.2371C>TSubstitution - Missense
ZNF302ENSG00000089335ENST00000505242p.V4fs*8c.10_12GTG>TCComplex - frameshift
ADAM11ENSG00000073670ENST00000200557p.A641Vc.1922C>TSubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
ENST00000316490_v65p.A4101Ac.12303C>TSubstitution - coding silent
PDE4DENSG00000113448ENST00000405755p.Q633Ec.1897C>GSubstitution - Missense
JPH2ENSG00000149596ENST00000372980p.I379Vc.1135A>GSubstitution - Missense
ZNF284ENSG00000186026ENST00000421176p.M3fs*6c.8delTDeletion - Frameshift
OR5I1ENSG00000167825ENST00000301532p.F283Lc.849C>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.R4499Hc.13496G>ASubstitution - Missense
EVPLENSG00000167880ENST00000301607p.R719Cc.2155C>TSubstitution - Missense
RPL7AENSG00000148303ENST00000426651p.Y87Hc.259T>CSubstitution - Missense
TENM2ENSG00000145934ENST00000545108p.R2004Cc.6010C>TSubstitution - Missense
TCEB3BENSG00000206181ENST00000332567p.E659Gc.1976A>GSubstitution - Missense
KIF26AENSG00000066735ENST00000423312p.H1435Hc.4305C>TSubstitution - coding silent
PROSER2ENSG00000148426ENST00000277570p.G116Gc.348C>TSubstitution - coding silent
HCAR1ENSG00000196917ENST00000356987p.F330fs*>17c.989delTDeletion - Frameshift
NM_006312.2p.Q508_Q510delQQQc.1523_1531delAGCAGCAGCDeletion - In frame
UGT3A2ENSG00000168671ENST00000282507p.N285Sc.854A>GSubstitution - Missense
SOS2ENSG00000100485ENST00000216373p.D180Dc.540C>TSubstitution - coding silent
CCDC144AENSG00000170160ENST00000360524p.M598Vc.1792A>GSubstitution - Missense
PPM1MENSG00000164088ENST00000409502p.A122Ac.366T>CSubstitution - coding silent
CADENSG00000084774ENST00000264705p.H934Hc.2802T>CSubstitution - coding silent
ARHGDIGENSG00000242173ENST00000219409p.P195Sc.583C>TSubstitution - Missense
ATP7AENSG00000165240ENST00000341514p.?c.2172+2C>GUnknown
MND1ENSG00000121211ENST00000240488p.V47Vc.141A>GSubstitution - coding silent
ELOVL2ENSG00000197977ENST00000354666p.?c.631-8G>AUnknown
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
OR2A4ENSG00000180658ENST00000315453p.E179Ec.537A>GSubstitution - coding silent
BCKDHAENSG00000248098ENST00000269980p.Y166Fc.497A>TSubstitution - Missense
LILRA2ENSG00000239998ENST00000251377p.N201Sc.602A>GSubstitution - Missense
PLECENSG00000178209ENST00000356346p.?c.2882-8T>CUnknown
FMR1ENSG00000102081ENST00000334557p.Y103*c.309C>GSubstitution - Nonsense
FAM120AENSG00000048828ENST00000333936p.R660Tc.1979G>CSubstitution - Missense
CCDC144AENSG00000170160ENST00000456009p.M318Vc.952A>GSubstitution - Missense
DESENSG00000175084ENST00000373960p.D365Nc.1093G>ASubstitution - Missense
CLIC2ENSG00000155962ENST00000369449p.V168Ic.502G>ASubstitution - Missense
FLNAENSG00000196924ENST00000369850p.V1582Vc.4746C>TSubstitution - coding silent
IZUMO4ENSG00000099840ENST00000395301p.R187Cc.559C>TSubstitution - Missense
CD96ENSG00000153283ENST00000283285p.V19fs*22c.54_55insTInsertion - Frameshift
POM121CENSG00000135213ENST00000453279p.T918Nc.2753C>ASubstitution - Missense
CC2D2AENSG00000048342ENST00000424120p.N1121fs*2c.3360_3361delAADeletion - Frameshift
ZNF827ENSG00000151612ENST00000379448p.A282Ac.846T>CSubstitution - coding silent
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
NM_020416.2p.Y67*c.201C>GSubstitution - Nonsense
ZNF280AENSG00000169548ENST00000302097p.D514Dc.1542C>TSubstitution - coding silent
PRAMEENSG00000185686ENST00000398741p.F57Lc.169T>CSubstitution - Missense
SLITRK2ENSG00000185985ENST00000447897p.V556Lc.1666G>CSubstitution - Missense
CAPN12ENSG00000182472ENST00000328867p.E350_G351insVLGPSPEc.1020_1021ins21Insertion - In frame
PDE4DENSG00000113448ENST00000502484p.Q694Ec.2080C>GSubstitution - Missense
ATL3ENSG00000184743ENST00000332645p.?c.1188+10A>TUnknown
ZFHX4ENSG00000091656ENST00000050961p.A2336Tc.7006G>ASubstitution - Missense
SETXENSG00000107290ENST00000372169p.P2654Lc.7961C>TSubstitution - Missense
ENST00000327303p.L215Vc.643C>GSubstitution - Missense
CAPRIN1ENSG00000135387ENST00000389645p.R239Hc.716G>ASubstitution - Missense
EBF3ENSG00000108001ENST00000368648p.S133Lc.398C>TSubstitution - Missense
NM_003076.3p.?c.1016+5G>TUnknown
ENST00000366638p.R286Gc.856A>GSubstitution - Missense
SLC41A2ENSG00000136052ENST00000258538p.R348Rc.1044G>ASubstitution - coding silent
CITENSG00000122966ENST00000392521p.S399Cc.1196C>GSubstitution - Missense
ENST00000373722p.P378Qc.1133C>ASubstitution - Missense
KRR1ENSG00000111615ENST00000229214p.?c.258+1_259-1del1357Unknown
SLC1A7ENSG00000162383ENST00000371494p.V289Ic.865G>ASubstitution - Missense
LMOD1ENSG00000163431ENST00000367288p.E548Kc.1642G>ASubstitution - Missense
NM_014363.3p.P2948Ac.8842C>GSubstitution - Missense
EMC10ENSG00000161671ENST00000376918p.V185Ac.554T>CSubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.R1302Hc.3905G>ASubstitution - Missense
XKR4ENSG00000206579ENST00000327381p.L109Lc.325C>TSubstitution - coding silent
PLECENSG00000178209ENST00000345136p.?c.2924-8T>CUnknown
GRB7ENSG00000141738ENST00000309156p.C472Wc.1416C>GSubstitution - Missense
N4BP2ENSG00000078177ENST00000261435p.N250Nc.750T>CSubstitution - coding silent
LAMA5ENSG00000130702ENST00000252999p.T3021Tc.9063C>TSubstitution - coding silent
PLGENSG00000122194ENST00000308192p.D238Nc.712G>ASubstitution - Missense
ANKRD53ENSG00000144031ENST00000360589p.?c.618-3_618delcagTUnknown
FUT3ENSG00000171124ENST00000303225p.V293Mc.877G>ASubstitution - Missense
TRHENSG00000170893ENST00000302649p.E175Ec.525G>ASubstitution - coding silent
ENST00000359737p.P184Pc.552G>ASubstitution - coding silent
KDELR1ENSG00000105438ENST00000330720p.K35Kc.105G>ASubstitution - coding silent
NM_004142.1p.T8Ic.23C>TSubstitution - Missense
DHX16ENSG00000204560ENST00000376442p.R275Qc.824G>ASubstitution - Missense
GPX3ENSG00000211445ENST00000388825p.V64Ic.190G>ASubstitution - Missense
MYPNENSG00000138347ENST00000358913p.R1139Rc.3417C>TSubstitution - coding silent
BRI3ENSG00000164713ENST00000539286p.N70Sc.209A>GSubstitution - Missense
CDK11BENSG00000248333ENST00000407249p.I493Ic.1479T>CSubstitution - coding silent
COL5A3ENSG00000080573ENST00000264828p.P940fs*54c.2819delCDeletion - Frameshift
ATAD3BENSG00000160072ENST00000308647p.G637Sc.1909G>ASubstitution - Missense
SPENENSG00000065526ENST00000375759p.P3274Pc.9822C>TSubstitution - coding silent
SU_CRIKp.S400Cc.1199C>GSubstitution - Missense
C14orf28ENSG00000179476ENST00000325192p.R215*c.643C>TSubstitution - Nonsense
GPSM2ENSG00000121957ENST00000406462p.L269Lc.807A>GSubstitution - coding silent
PSMA3ENSG00000100567ENST00000216455p.?c.591-7A>GUnknown
TLN2ENSG00000171914ENST00000306829p.L147Vc.439C>GSubstitution - Missense
CCDC85CENSG00000205476ENST00000380243p.H362Qc.1086C>ASubstitution - Missense
FAM120AENSG00000048828ENST00000277165p.R632Tc.1895G>CSubstitution - Missense
CACNA1AENSG00000141837ENST00000360228p.M1558Vc.4672A>GSubstitution - Missense
ENSG00000223931ENST00000426099p.G8Wc.22G>TSubstitution - Missense
CCDC150ENSG00000144395ENST00000409270p.K152Kc.456G>ASubstitution - coding silent
SEC14L3ENSG00000100012ENST00000215812p.V5Ac.14T>CSubstitution - Missense
DNAH6ENSG00000115423ENST00000237449p.N752fs*20c.2249_2250insGInsertion - Frameshift
MADDENSG00000110514ENST00000311027p.L665fs*9c.1991_1992delCADeletion - Frameshift
ATP13A2ENSG00000159363ENST00000326735p.L773Vc.2317C>GSubstitution - Missense
KANK4ENSG00000132854ENST00000371153p.L828Lc.2484T>CSubstitution - coding silent
CCDC144AENSG00000170160ENST00000443444p.M598Vc.1792A>GSubstitution - Missense
KRTAP10-7ENSG00000205441ENST00000380102p.T91Tc.273G>ASubstitution - coding silent
ZNF443ENSG00000180855ENST00000301547p.P615Pc.1845G>ASubstitution - coding silent
WDR82ENSG00000164091ENST00000296490p.S270Sc.810C>TSubstitution - coding silent
CORINENSG00000145244ENST00000273857p.L334Wc.1001T>GSubstitution - Missense
ZBTB7CENSG00000184828ENST00000332053p.E159Ec.477A>GSubstitution - coding silent
ENST00000407081p.D85Nc.253G>ASubstitution - Missense
GOLGB1ENSG00000173230ENST00000340645p.A1818Ac.5454G>ASubstitution - coding silent
ZNF236ENSG00000130856ENST00000543926p.N1029Nc.3087T>CSubstitution - coding silent
ADAM11ENSG00000073670ENST00000200557p.A641Vc.1922C>TSubstitution - Missense
FCGBPENSG00000090920ENST00000221347p.Y4274Yc.12822C>TSubstitution - coding silent
CTNNA1ENSG00000044115ENST00000302763p.N257Sc.770A>GSubstitution - Missense
EFHC1ENSG00000096093ENST00000371068p.F398Fc.1194T>CSubstitution - coding silent
TENM2ENSG00000145934ENST00000545108p.L1101Lc.3303G>CSubstitution - coding silent
KBTBD6ENSG00000165572ENST00000379485p.E543Ec.1629A>GSubstitution - coding silent
ENST00000455773p.H286Yc.856C>TSubstitution - Missense
KRR1ENSG00000111615ENST00000229214p.I147fs*8c.439_440insAInsertion - Frameshift
GBP7ENSG00000213512ENST00000294671p.?c.626-1G>AUnknown
TEX2ENSG00000136478ENST00000258991p.D368Hc.1102G>CSubstitution - Missense
ASB14ENSG00000239388ENST00000487349p.P153Ac.457C>GSubstitution - Missense
PLECENSG00000178209ENST00000354958p.D2184Dc.6552C>TSubstitution - coding silent
FAM114A1ENSG00000197712ENST00000358869p.E79Ec.237G>ASubstitution - coding silent
RNASEH1ENSG00000171865ENST00000315212p.L170*c.509T>GSubstitution - Nonsense
ABCA6ENSG00000154262ENST00000284425p.Q1179Qc.3537G>ASubstitution - coding silent
ZNF619ENSG00000177873ENST00000447116p.?c.299-8T>CUnknown
SNX4ENSG00000114520ENST00000251775p.R154Rc.462A>GSubstitution - coding silent
TULP4ENSG00000130338ENST00000367097p.P949Sc.2845C>TSubstitution - Missense
SYNGR4ENSG00000105467ENST00000344846p.P132Pc.396G>CSubstitution - coding silent
AGGF1ENSG00000164252ENST00000312916p.G508Vc.1523G>TSubstitution - Missense
ZBED4ENSG00000100426ENST00000216268p.E78Ec.234G>ASubstitution - coding silent
HHIPENSG00000164161ENST00000296575p.I699Vc.2095A>GSubstitution - Missense
ENST00000316490p.A4053Ac.12159C>TSubstitution - coding silent
ENST00000316490_v65p.P4064Pc.12192C>TSubstitution - coding silent
RSPO2ENSG00000147655ENST00000276659p.K219Kc.657A>GSubstitution - coding silent
KIF4BENSG00000226650ENST00000435029p.G75Vc.224G>TSubstitution - Missense
GDAP1L1ENSG00000124194ENST00000342560p.R332Qc.995G>ASubstitution - Missense
LRRN3ENSG00000173114ENST00000308478p.N246Dc.736A>GSubstitution - Missense
TRAPPC9ENSG00000167632ENST00000389328p.D229Nc.685G>ASubstitution - Missense
TNXBENSG00000168477ENST00000375244p.?c.7169-5C>GUnknown
FAM101AENSG00000178882ENST00000389727p.T215Tc.645G>ASubstitution - coding silent
ENST00000327733p.?c.859+3G>AUnknown
AKAP13ENSG00000170776ENST00000361243p.A1402Gc.4205C>GSubstitution - Missense
NM_003076.3p.?c.1016+4G>CUnknown
DISC1ENSG00000162946ENST00000366636p.R286Gc.856A>GSubstitution - Missense
KRT81ENSG00000205426ENST00000327741p.R24Hc.71G>ASubstitution - Missense
OR4X1ENSG00000176567ENST00000320048p.L38Lc.114G>TSubstitution - coding silent
ITPRIPENSG00000148841ENST00000358187p.R237Lc.710G>TSubstitution - Missense
CITENSG00000122966ENST00000261833p.S399Cc.1196C>GSubstitution - Missense
PFKFB3ENSG00000170525ENST00000379785p.V71Ic.211G>ASubstitution - Missense
OLFML2BENSG00000162745ENST00000294794p.V686Mc.2056G>ASubstitution - Missense
CTSCENSG00000109861ENST00000227266p.F174Lc.522T>ASubstitution - Missense
ARHGEF10LENSG00000074964ENST00000361221p.N501Nc.1503C>TSubstitution - coding silent
FMN1ENSG00000248905ENST00000334528p.P724Lc.2171C>TSubstitution - Missense
MARCH10ENSG00000173838ENST00000311269p.A131fs*6c.390delADeletion - Frameshift
TRPM4ENSG00000130529ENST00000252826p.H424Hc.1272T>CSubstitution - coding silent
ENST00000226258p.E437Ac.1310A>CSubstitution - Missense
EFCAB3ENSG00000172421ENST00000305286p.N339Kc.1017T>ASubstitution - Missense
ATG4BENSG00000168397ENST00000404914p.P218Pc.654A>GSubstitution - coding silent
NM_147171.1p.D2281Vc.6842A>TSubstitution - Missense
ERGENSG00000157554ENST00000417133p.P223Ac.667C>GSubstitution - Missense
CAND2ENSG00000144712ENST00000295989p.L872Vc.2614C>GSubstitution - Missense
AXDND1ENSG00000162779ENST00000367618p.L481Mc.1441C>ASubstitution - Missense
NBPF4ENSG00000196427ENST00000415641p.H492Qc.1476C>ASubstitution - Missense
TM4SF5ENSG00000142484ENST00000270560p.?c.177+3G>AUnknown
COL1A2ENSG00000164692ENST00000297268p.P771Pc.2313C>GSubstitution - coding silent
OSBPL11ENSG00000144909ENST00000296220p.L88Lc.262C>TSubstitution - coding silent
FILIP1ENSG00000118407ENST00000237172p.Q1008Ec.3022C>GSubstitution - Missense
TENM2ENSG00000145934ENST00000518659p.L1101Lc.3303G>CSubstitution - coding silent
FAM196BENSG00000204767ENST00000377365p.T300Mc.899C>TSubstitution - Missense
CYP21A2ENSG00000231852ENST00000418967p.E247fs*11c.740delADeletion - Frameshift
CDC14BENSG00000081377ENST00000265659p.E307Qc.919G>CSubstitution - Missense
SLC22A16ENSG00000004809ENST00000330550p.?c.166-8C>TUnknown
MAMDC4ENSG00000177943ENST00000317446p.G954Rc.2860G>ASubstitution - Missense
AVPI1ENSG00000119986ENST00000370626p.A26Dc.77C>ASubstitution - Missense
TTC40ENSG00000171811ENST00000263170p.R170Wc.508A>TSubstitution - Missense
PTCH2ENSG00000117425ENST00000372192p.L104Pc.311T>CSubstitution - Missense
ATL3ENSG00000184743ENST00000398868p.?c.1107+10A>TUnknown
NCOR2ENSG00000196498ENST00000405201p.Q508_Q510delQQQc.1523_1531delAGCAGCAGCDeletion - In frame
PLEKHN1ENSG00000187583ENST00000379409p.L343fs*111c.1026delCDeletion - Frameshift
PPFIBP1ENSG00000110841ENST00000318304p.R211Sc.633G>TSubstitution - Missense
KCNS3ENSG00000170745ENST00000304101p.N476Dc.1426A>GSubstitution - Missense
PTCH1ENSG00000185920ENST00000331920p.R1303Hc.3908G>ASubstitution - Missense
TCP10LENSG00000242220ENST00000300258p.R212Wc.634C>TSubstitution - Missense
REM1ENSG00000088320ENST00000201979p.Y117Cc.350A>GSubstitution - Missense
PARP10ENSG00000178685ENST00000313028p.T101Tc.303G>ASubstitution - coding silent
IL17REENSG00000163701ENST00000454190p.?c.1073-2A>GUnknown
ZNF175ENSG00000105497ENST00000262259p.Q418*c.1252C>TSubstitution - Nonsense
VPS35ENSG00000069329ENST00000299138p.Y439Yc.1317T>CSubstitution - coding silent
ANKRD33BENSG00000164236ENST00000296657p.M210Tc.629T>CSubstitution - Missense
CSRNP1ENSG00000144655ENST00000273153p.R77Hc.230G>ASubstitution - Missense
NDOR1ENSG00000188566ENST00000344894p.P286Pc.858C>TSubstitution - coding silent
ZNF462ENSG00000148143ENST00000277225p.R1709Cc.5125C>TSubstitution - Missense
SBF1ENSG00000100241ENST00000380817p.R1717Rc.5151T>GSubstitution - coding silent
SDK1ENSG00000146555ENST00000404826p.R1956Qc.5867G>ASubstitution - Missense
LMX1BENSG00000136944ENST00000355497p.?c.818-3C>AUnknown
PKN1ENSG00000123143ENST00000342216p.?c.2234+9G>CUnknown
ABHD8ENSG00000127220ENST00000247706p.S423Lc.1268C>TSubstitution - Missense
HK1ENSG00000156515ENST00000360289p.E304Qc.910G>CSubstitution - Missense
TP53ENSG00000141510ENST00000269305p.P152Lc.455C>TSubstitution - Missense
PLECENSG00000178209ENST00000354589p.?c.2924-8T>CUnknown
PLCH1ENSG00000114805ENST00000340059p.R180Qc.539G>ASubstitution - Missense
H6PDENSG00000049239ENST00000377403p.S777Sc.2331C>TSubstitution - coding silent
CDKN2AENSG00000147889ENST00000498124p.D108Nc.322G>ASubstitution - Missense
HALENSG00000084110ENST00000261208p.P652Pc.1956G>ASubstitution - coding silent
AKAP13ENSG00000170776ENST00000394518p.A1402Gc.4205C>GSubstitution - Missense
RUSC1ENSG00000160753ENST00000368347p.L247Lc.741C>TSubstitution - coding silent
ARHGEF10LENSG00000074964ENST00000361221p.N501Nc.1503C>TSubstitution - coding silent
NAPSAENSG00000131400ENST00000253719p.Q89*c.265C>TSubstitution - Nonsense
KIF16BENSG00000089177ENST00000354981p.S278Yc.833C>ASubstitution - Missense
ANKEF1ENSG00000132623ENST00000378392p.Q697Rc.2090A>GSubstitution - Missense
RUNX1T1ENSG00000079102ENST00000518449p.A33Tc.97G>ASubstitution - Missense
FAM205AENSG00000205108ENST00000378788p.A1239Tc.3715G>ASubstitution - Missense
CNGA3ENSG00000144191ENST00000272602p.R75Rc.225C>TSubstitution - coding silent
ZFHX4ENSG00000091656ENST00000521891p.A2381Tc.7141G>ASubstitution - Missense
RPS9ENSG00000170889ENST00000391752p.D189Dc.567C>TSubstitution - coding silent
ZNF512BENSG00000196700ENST00000369888p.S18Cc.52A>TSubstitution - Missense
RSPO4ENSG00000101282ENST00000217260p.E176Ec.528G>ASubstitution - coding silent
EGFENSG00000138798ENST00000265171p.T930Ac.2788A>GSubstitution - Missense
PTH1RENSG00000160801ENST00000313049p.A284Sc.850G>TSubstitution - Missense
SLC27A1ENSG00000130304ENST00000252595p.G124Gc.372C>TSubstitution - coding silent
ZNF687ENSG00000143373ENST00000368879p.R1050Tc.3149G>CSubstitution - Missense
DPP8ENSG00000074603ENST00000341861p.S168Fc.503C>TSubstitution - Missense
TRANK1ENSG00000168016ENST00000429976p.R2170Wc.6508C>TSubstitution - Missense
COL4A5ENSG00000188153ENST00000328300p.C1684Fc.5051G>TSubstitution - Missense
ENST00000378024_v70p.G1938Gc.5814G>ASubstitution - coding silent
ENST00000326539_v68p.S43Sc.129T>GSubstitution - coding silent
DHX29ENSG00000067248ENST00000251636p.M482Tc.1445T>CSubstitution - Missense
ENST00000388903p.R1838Cc.5512C>TSubstitution - Missense
ENST00000373903p.E62Qc.184G>CSubstitution - Missense
TPOENSG00000115705ENST00000337415p.A612Ac.1836C>TSubstitution - coding silent
NM_203304.1p.T168Pc.502A>CSubstitution - Missense
PPM1HENSG00000111110ENST00000228705p.A185Ac.555C>ASubstitution - coding silent
PDZD8ENSG00000165650ENST00000334464p.S403Sc.1209G>ASubstitution - coding silent
ENST00000426033p.K2811Kc.8433A>GSubstitution - coding silent
DVL1ENSG00000107404ENST00000378891p.G95Sc.283G>ASubstitution - Missense
ARHGEF10LENSG00000074964ENST00000375408p.N279Nc.837C>TSubstitution - coding silent
ANKRD26ENSG00000107890ENST00000376087p.E533Qc.1597G>CSubstitution - Missense
CDC14BENSG00000081377ENST00000375242p.E270Qc.808G>CSubstitution - Missense
ZNF514ENSG00000144026ENST00000295208p.L108Lc.324G>CSubstitution - coding silent
PDXKENSG00000160209ENST00000291565p.S158Gc.472A>GSubstitution - Missense
ALDH3A1ENSG00000108602ENST00000225740p.E299Ec.897G>ASubstitution - coding silent
PLECENSG00000178209ENST00000436759p.?c.3005-8T>CUnknown
PARP3ENSG00000041880ENST00000417220p.H146Yc.436C>TSubstitution - Missense
PYCARDENSG00000103490ENST00000247470p.R3Rc.9C>ASubstitution - coding silent
ZNF418ENSG00000196724ENST00000396147p.P481Pc.1443A>GSubstitution - coding silent
FAM47CENSG00000198173ENST00000358047p.S616Sc.1848T>CSubstitution - coding silent
FLNAENSG00000196924ENST00000369850p.V1582Vc.4746C>TSubstitution - coding silent
GAB3ENSG00000160219ENST00000369575p.E508Qc.1522G>CSubstitution - Missense
TSC22D4ENSG00000166925ENST00000300181p.Q347Rc.1040A>GSubstitution - Missense
ZNF311ENSG00000197935ENST00000377179p.E580Kc.1738G>ASubstitution - Missense
SH3GLB2ENSG00000148341ENST00000372559p.?c.468+6G>CUnknown
CDHR2ENSG00000074276ENST00000261944p.A415Gc.1244C>GSubstitution - Missense
SREBF1ENSG00000072310ENST00000338854p.V710Mc.2128G>ASubstitution - Missense
CDK11BENSG00000248333ENST00000317673p.I491Ic.1473T>CSubstitution - coding silent
SEH1LENSG00000085415ENST00000399892p.P385_L386insPc.1136_1137insTCCInsertion - In frame
SLC22A16ENSG00000004809ENST00000368919p.T87Mc.260C>TSubstitution - Missense
UNC5AENSG00000113763ENST00000261961p.D676Dc.2028C>TSubstitution - coding silent
RBM26ENSG00000139746ENST00000267229p.L215Vc.643C>GSubstitution - Missense
MUC4ENSG00000145113ENST00000346145p.R263Hc.788G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T3023Nc.9068C>ASubstitution - Missense
GDF11ENSG00000135414ENST00000257868p.M285Tc.854T>CSubstitution - Missense
NEO1ENSG00000067141ENST00000261908p.?c.1015+1G>TUnknown
HK1ENSG00000156515ENST00000404387p.E320Qc.958G>CSubstitution - Missense
LRRTM3ENSG00000198739ENST00000361320p.P378Qc.1133C>ASubstitution - Missense
RSL1D1ENSG00000171490ENST00000571133p.K51Nc.153A>CSubstitution - Missense
FZD10ENSG00000111432ENST00000229030p.F86Fc.258C>TSubstitution - coding silent
CDC14BENSG00000081377ENST00000375241p.E307Qc.919G>CSubstitution - Missense
ROBO2ENSG00000185008ENST00000487694p.?c.854+8C>TUnknown
SMR3BENSG00000171201ENST00000304915p.G70Ec.209G>ASubstitution - Missense
PDXKENSG00000160209ENST00000291565p.S158Gc.472A>GSubstitution - Missense
CORINENSG00000145244ENST00000273857p.V385Gc.1154T>GSubstitution - Missense
TBC1D25ENSG00000068354ENST00000376771p.D454Dc.1362C>TSubstitution - coding silent
F8ENSG00000185010ENST00000360256p.E1690Gc.5069A>GSubstitution - Missense
PPP5CENSG00000011485ENST00000012443p.A431Ac.1293C>TSubstitution - coding silent
OR1E1ENSG00000180016ENST00000322608p.T57Mc.170C>TSubstitution - Missense
ZNF827ENSG00000151612ENST00000379448p.A282Ac.846T>CSubstitution - coding silent
BPHLENSG00000137274ENST00000380375p.P218Pc.654C>TSubstitution - coding silent
C19orf67ENSG00000188032ENST00000343945p.S260Sc.780C>TSubstitution - coding silent
ZNF737ENSG00000237440ENST00000427401p.T301fs*4c.901_902insAInsertion - Frameshift
SYNE1ENSG00000131018ENST00000448038p.V2399Ac.7196T>CSubstitution - Missense
IL17REENSG00000163701ENST00000421412p.?c.1172-2A>GUnknown
PRPF40BENSG00000110844ENST00000380281p.?c.514+8G>AUnknown
DISC1ENSG00000162946ENST00000366633p.R286Gc.856A>GSubstitution - Missense
DNAJC22ENSG00000178401ENST00000395069p.R148Cc.442C>TSubstitution - Missense
NESENSG00000132688ENST00000368223p.S1045Pc.3133T>CSubstitution - Missense
FOXRED1ENSG00000110074ENST00000263578p.I486Mc.1458C>GSubstitution - Missense
DUSP13ENSG00000079393ENST00000372700p.?c.150-6T>CUnknown
TTC40ENSG00000171811ENST00000368586p.R2009Wc.6025A>TSubstitution - Missense
EBF3ENSG00000108001ENST00000355311p.S133Lc.398C>TSubstitution - Missense
GCNT7ENSG00000124091ENST00000243913p.L69Lc.205C>TSubstitution - coding silent
LILRA2ENSG00000239998ENST00000251376p.N201Sc.602A>GSubstitution - Missense
AKAP9ENSG00000127914ENST00000356239p.D2269Vc.6806A>TSubstitution - Missense
ZC3H3ENSG00000014164ENST00000262577p.D271Nc.811G>ASubstitution - Missense
FAM47CENSG00000198173ENST00000358047p.P635Pc.1905C>TSubstitution - coding silent
AFTPHENSG00000119844ENST00000238856p.Q645fs*5c.1933delCDeletion - Frameshift
CER1ENSG00000147869ENST00000380911p.H158Hc.474T>CSubstitution - coding silent
NM_000052.2p.?c.2172+2C>GUnknown
CC2D2AENSG00000048342ENST00000389652p.N1072fs*2c.3213_3214delAADeletion - Frameshift
GABRA1ENSG00000022355ENST00000393943p.N275fs*13c.823delADeletion - Frameshift
PKHD1L1ENSG00000205038ENST00000378402p.A1138Sc.3412G>TSubstitution - Missense
NDRG4ENSG00000103034ENST00000570248p.T224Mc.671C>TSubstitution - Missense
ZNF737ENSG00000237440ENST00000427401p.T273fs*4c.818_900del83Deletion - Frameshift
ZNF732ENSG00000186777ENST00000419098p.R354Ic.1061G>TSubstitution - Missense
COL14A1ENSG00000187955ENST00000297848p.E344*c.1030G>TSubstitution - Nonsense
HOGA1ENSG00000241935ENST00000370646p.P40Pc.120C>TSubstitution - coding silent
ENST00000412131p.G1079Gc.3237C>TSubstitution - coding silent
PRPF40BENSG00000110844ENST00000380281p.V119Vc.357G>TSubstitution - coding silent
YLPM1ENSG00000119596ENST00000325680p.K735Nc.2205G>TSubstitution - Missense
RAB1BENSG00000174903ENST00000311481p.L143fs*25c.423_424delCTDeletion - Frameshift
CALML6ENSG00000169885ENST00000307786p.L143Lc.429C>ASubstitution - coding silent
KCND3ENSG00000171385ENST00000369697p.S112Cc.335C>GSubstitution - Missense
ENST00000243913_v68p.L69Lc.205C>TSubstitution - coding silent
SHCBP1ENSG00000171241ENST00000303383p.Y79Yc.237T>CSubstitution - coding silent
PCNTENSG00000160299ENST00000359568p.R1651Rc.4953C>TSubstitution - coding silent
BRI3ENSG00000164713ENST00000297290p.N70Sc.209A>GSubstitution - Missense
CDKAL1ENSG00000145996ENST00000378610p.G285Rc.853G>ASubstitution - Missense
LILRB2ENSG00000131042ENST00000314446p.R349Wc.1045C>TSubstitution - Missense
ITFG3ENSG00000167930ENST00000301678p.D536Dc.1608C>TSubstitution - coding silent
GRK7ENSG00000114124ENST00000264952p.N121Sc.362A>GSubstitution - Missense
DHX16ENSG00000204560ENST00000376442p.R275Qc.824G>ASubstitution - Missense
PDE4DENSG00000113448ENST00000340635p.Q755Ec.2263C>GSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.T1290Tc.3870C>TSubstitution - coding silent
OCIAD1ENSG00000109180ENST00000264312p.Q59Ec.175C>GSubstitution - Missense
NEBENSG00000183091ENST00000427231p.I794Ic.2382C>TSubstitution - coding silent
MYPNENSG00000138347ENST00000540630p.R1139Rc.3417C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000269305p.P152Lc.455C>TSubstitution - Missense
CDKN2AENSG00000147889ENST00000304494p.D108Nc.322G>ASubstitution - Missense
ENST00000405167p.R4371Hc.13112G>ASubstitution - Missense
AKAP8ENSG00000105127ENST00000269701p.R448Hc.1343G>ASubstitution - Missense
DNAJC22ENSG00000178401ENST00000549441p.R148Cc.442C>TSubstitution - Missense
SIN3AENSG00000169375ENST00000394947p.L127Lc.381A>GSubstitution - coding silent
AHNAKENSG00000124942ENST00000378024p.G1938Gc.5814G>ASubstitution - coding silent
AKR1C1ENSG00000187134ENST00000380872p.L10Lc.30G>CSubstitution - coding silent
CD163L1ENSG00000177675ENST00000313599p.V405Mc.1213G>ASubstitution - Missense
DPP8ENSG00000074603ENST00000300141p.S152Fc.455C>TSubstitution - Missense
EMC10ENSG00000161671ENST00000334976p.V185Ac.554T>CSubstitution - Missense
RAB2AENSG00000104388ENST00000262646p.E158Kc.472G>ASubstitution - Missense
KIF16BENSG00000089177ENST00000408042p.S278Yc.833C>ASubstitution - Missense
FGF17ENSG00000158815ENST00000359441p.A3Ac.9C>TSubstitution - coding silent
CTCFLENSG00000124092ENST00000423479p.?c.1988+172_2103del2133Unknown
PARP3ENSG00000041880ENST00000417220p.A235Vc.704C>TSubstitution - Missense
ROBO2ENSG00000185008ENST00000461745p.?c.806+8C>TUnknown
CLTCL1ENSG00000070371ENST00000263200p.P485Ac.1453C>GSubstitution - Missense
PP2D1ENSG00000183977ENST00000389050p.S344fs*21c.1030_1031delAGDeletion - Frameshift
MUC4ENSG00000145113ENST00000463781p.P3456Sc.10366C>TSubstitution - Missense
FAM194AENSG00000163645ENST00000295910p.Y307Nc.919T>ASubstitution - Missense
SEZ6L2ENSG00000174938ENST00000350527p.N447Nc.1341C>TSubstitution - coding silent
CLIC2ENSG00000155962ENST00000369449p.R5Wc.13C>TSubstitution - Missense
SERPINB6ENSG00000124570ENST00000380520p.R242Kc.725G>ASubstitution - Missense
UNC5AENSG00000113763ENST00000329542p.D716Dc.2148C>TSubstitution - coding silent
WIZENSG00000011451ENST00000545156p.D611Dc.1833C>TSubstitution - coding silent
EEF2KENSG00000103319ENST00000263026p.E662Kc.1984G>ASubstitution - Missense
NEBENSG00000183091ENST00000397345p.I794Ic.2382C>TSubstitution - coding silent
SH3GLB2ENSG00000148341ENST00000372554p.?c.468+6G>CUnknown
CDC14BENSG00000081377ENST00000375236p.E307Qc.919G>CSubstitution - Missense
ENST00000545858p.P59Lc.176C>TSubstitution - Missense
ATP7AENSG00000165240ENST00000341514p.?c.2172+5G>TUnknown
NM_000052.2p.?c.2172+5G>TUnknown
ENST00000349637p.S2752Sc.8256G>ASubstitution - coding silent
ENST00000328974p.N184Nc.552C>TSubstitution - coding silent
ENST00000510439_v68p.D164fs*6c.488delADeletion - Frameshift
NPPBENSG00000120937ENST00000376468p.R80Wc.238C>TSubstitution - Missense
BCL7AENSG00000110987ENST00000538010p.V38Ic.112G>ASubstitution - Missense
CYP2R1ENSG00000186104ENST00000334636p.G148Ec.443G>ASubstitution - Missense
KIAA1324ENSG00000116299ENST00000369939p.N214Sc.641A>GSubstitution - Missense
TBL3ENSG00000183751ENST00000568546p.S725Sc.2175G>ASubstitution - coding silent
SU_SK473p.P354Pc.1062G>ASubstitution - coding silent
ATP8B2ENSG00000143515ENST00000368489p.?c.2570-5T>CUnknown
FBXW10ENSG00000171931ENST00000395667p.F331Ic.991T>ASubstitution - Missense
GDAENSG00000119125ENST00000358399p.I188Tc.563T>CSubstitution - Missense
NM_022740p.Q747Kc.2239C>ASubstitution - Missense
HIPK2ENSG00000064393ENST00000406875p.Q747Kc.2239C>ASubstitution - Missense
ZNF600ENSG00000189190ENST00000338230p.K64Nc.192A>TSubstitution - Missense
GCC2ENSG00000135968ENST00000309863p.E693Gc.2078A>GSubstitution - Missense
ENST00000333807p.?c.1280+6T>CUnknown
ENST00000314395p.N331fs*20c.986_987insGInsertion - Frameshift
PGCENSG00000096088ENST00000373025p.T344Ac.1030A>GSubstitution - Missense
HEG1ENSG00000173706ENST00000311127p.Y535Hc.1603T>CSubstitution - Missense
KIAA1683ENSG00000130518ENST00000392413p.A1303Ac.3909G>ASubstitution - coding silent
CDKN2AENSG00000147889ENST00000446177p.G135Gc.405G>ASubstitution - coding silent
TENM2ENSG00000145934ENST00000519204p.L980Lc.2940G>CSubstitution - coding silent
PCDHB6ENSG00000113211ENST00000231136p.A465Tc.1393G>ASubstitution - Missense
OR52J3ENSG00000205495ENST00000380370p.T78Ic.233C>TSubstitution - Missense
NUP188ENSG00000095319ENST00000372577p.R1279Hc.3836G>ASubstitution - Missense
NDRG4ENSG00000103034ENST00000563799p.T242Mc.725C>TSubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.E2297fs*18c.6889delGDeletion - Frameshift
TRAF7ENSG00000131653ENST00000326181p.S88Sc.264C>TSubstitution - coding silent
TP53ENSG00000141510ENST00000413465p.P152Lc.455C>TSubstitution - Missense
DDX60LENSG00000181381ENST00000505890p.H421Rc.1262A>GSubstitution - Missense
GJD4ENSG00000177291ENST00000321660p.L14Sc.41T>CSubstitution - Missense
FMN2ENSG00000155816ENST00000319653p.E823*c.2467G>TSubstitution - Nonsense
OR2D3ENSG00000178358ENST00000317834p.R70Cc.208C>TSubstitution - Missense
NM_001380.2p.L290Lc.870G>CSubstitution - coding silent
UBL4BENSG00000186150ENST00000334179p.R157Wc.469C>TSubstitution - Missense
C11orf21ENSG00000110665ENST00000456145p.T120fs*4c.355_356insCInsertion - Frameshift
KRR1ENSG00000111615ENST00000229214p.?c.1003+1_1004-1del1771Unknown
PLEKHN1ENSG00000187583ENST00000379410p.L291fs*111c.870delCDeletion - Frameshift
SACSENSG00000151835ENST00000382298p.P3095Ac.9283C>GSubstitution - Missense
SIGLEC1ENSG00000088827ENST00000344754p.F158Fc.474C>TSubstitution - coding silent
CBFA2T2ENSG00000078699ENST00000375279p.C261Yc.782G>ASubstitution - Missense
CDC14BENSG00000081377ENST00000375240p.E307Qc.919G>CSubstitution - Missense
HDGFL1ENSG00000112273ENST00000230012p.P94Rc.281C>GSubstitution - Missense
PEX1ENSG00000127980ENST00000248633p.H313Hc.939T>CSubstitution - coding silent
WHSC1L1ENSG00000147548ENST00000317025p.K699Kc.2097G>ASubstitution - coding silent
IL17REENSG00000163701ENST00000383814p.?c.1073-2A>GUnknown
C9orf173ENSG00000197768ENST00000388931p.H358fs*>20c.1069_1097del29Deletion - Frameshift
MUC17ENSG00000169876ENST00000306151p.A1786Gc.5357C>GSubstitution - Missense
GCATENSG00000100116ENST00000248924p.H178Hc.534C>TSubstitution - coding silent
CELSR3ENSG00000008300ENST00000164024p.V1546Lc.4636G>TSubstitution - Missense
HLA-DQA2ENSG00000237541ENST00000374940p.S162Ic.485G>TSubstitution - Missense
ENST00000314583_v70p.N376Tc.1127A>CSubstitution - Missense
ANK1ENSG00000029534ENST00000265709p.N1054Nc.3162C>TSubstitution - coding silent
PPLENSG00000118898ENST00000345988p.Q1353Qc.4059G>ASubstitution - coding silent
ZSWIM8ENSG00000214655ENST00000398706p.G464Gc.1392C>TSubstitution - coding silent
ENST00000300053p.S717Lc.2150C>TSubstitution - Missense
ADAM12ENSG00000148848ENST00000368679p.?c.920+8G>TUnknown
FAM101AENSG00000178882ENST00000324038p.T134Tc.402G>ASubstitution - coding silent
TENM2ENSG00000145934ENST00000518659p.R2005Cc.6013C>TSubstitution - Missense
TENM2ENSG00000145934ENST00000519204p.R1884Cc.5650C>TSubstitution - Missense
ENST00000342925p.P144Pc.432G>ASubstitution - coding silent
PDE4DENSG00000113448ENST00000507116p.Q691Ec.2071C>GSubstitution - Missense
PDE4DENSG00000113448ENST00000503258p.Q625Ec.1873C>GSubstitution - Missense
PDE4DENSG00000113448ENST00000360047p.Q619Ec.1855C>GSubstitution - Missense
PDE4DENSG00000113448ENST00000360047p.Q619Ec.1855C>GSubstitution - Missense
UHRF1BP1ENSG00000065060ENST00000192788p.R449Tc.1346G>CSubstitution - Missense
HLA-DQA1ENSG00000196735ENST00000374949p.S162Ic.485G>TSubstitution - Missense
NOTCH4ENSG00000204301ENST00000375023p.V224Vc.672G>ASubstitution - coding silent
TNXBENSG00000168477ENST00000375247p.?c.7430-5C>GUnknown
TDRD6ENSG00000180113ENST00000316081p.K164Nc.492G>TSubstitution - Missense
TP53ENSG00000141510ENST00000420246p.P152Lc.455C>TSubstitution - Missense
MLIPENSG00000146147ENST00000274897p.G152Rc.454G>ASubstitution - Missense
GOLGA8HENSG00000261794ENST00000566740p.V133Ic.397G>ASubstitution - Missense
ENST00000373120p.L387Lc.1161C>GSubstitution - coding silent
VPS26AENSG00000122958ENST00000373382p.G220Ac.659G>CSubstitution - Missense
MYPNENSG00000138347ENST00000354393p.R864Rc.2592C>TSubstitution - coding silent
PFKFB3ENSG00000170525ENST00000536985p.V51Ic.151G>ASubstitution - Missense
DOCK1ENSG00000150760ENST00000280333p.L290Lc.870G>CSubstitution - coding silent
NM_032681.1p.?c.382+3G>AUnknown
TRIM48ENSG00000150244ENST00000417545p.A208Vc.623C>TSubstitution - Missense
NM_024114.2p.A192Vc.575C>TSubstitution - Missense
OR4C12ENSG00000221954ENST00000335238p.V255Mc.763G>ASubstitution - Missense
MYO16ENSG00000041515ENST00000457511p.Q688Qc.2064A>GSubstitution - coding silent
CHD1LENSG00000131778ENST00000369258p.?c.896-10T>AUnknown
KIF21BENSG00000116852ENST00000422435p.Q332*c.994C>TSubstitution - Nonsense
ATP13A2ENSG00000159363ENST00000341676p.L768Vc.2302C>GSubstitution - Missense
WNT3AENSG00000154342ENST00000366753p.V124Vc.372G>ASubstitution - coding silent
GRB7ENSG00000141738ENST00000445327p.C495Wc.1485C>GSubstitution - Missense
FBXW10ENSG00000171931ENST00000308799p.F360Ic.1078T>ASubstitution - Missense
ATP6V0A1ENSG00000033627ENST00000264649p.?c.1582-5G>AUnknown
GTPBP3ENSG00000130299ENST00000361619p.V224Mc.670G>ASubstitution - Missense
MEX3DENSG00000181588ENST00000388824p.T346Pc.1036A>CSubstitution - Missense
ZBTB45ENSG00000119574ENST00000594051p.A123Tc.367G>ASubstitution - Missense
MYH14ENSG00000105357ENST00000440075p.?c.4032+2T>AUnknown
POLR1BENSG00000125630ENST00000541869p.P610Lc.1829C>TSubstitution - Missense
CLTCL1ENSG00000070371ENST00000427926p.P485Ac.1453C>GSubstitution - Missense
ERGENSG00000157554ENST00000288319p.P216Ac.646C>GSubstitution - Missense
ATG4BENSG00000168397ENST00000405546p.P218Pc.654A>GSubstitution - coding silent
ATG4BENSG00000168397ENST00000474739p.P204Pc.612A>GSubstitution - coding silent
PLCH1ENSG00000114805ENST00000494598p.R180Qc.539G>ASubstitution - Missense
ENST00000314583_v70p.N376Hc.1126A>CSubstitution - Missense
MEMO1ENSG00000162959ENST00000379383p.T41Sc.121A>TSubstitution - Missense
PPM1MENSG00000164088ENST00000457351p.A334Ac.1002T>CSubstitution - coding silent
CELSR3ENSG00000008300ENST00000164024p.?c.5448+9A>CUnknown
MUC4ENSG00000145113ENST00000463781p.S1530Sc.4590C>TSubstitution - coding silent
ENST00000405167p.S1530Sc.4590C>TSubstitution - coding silent
DNAH6ENSG00000115423ENST00000398278p.N752fs*20c.2249_2250insGInsertion - Frameshift
TRPV3ENSG00000167723ENST00000301365p.I413Ic.1239C>TSubstitution - coding silent
TRIOENSG00000038382ENST00000344135p.A19Sc.55G>TSubstitution - Missense
SLC22A16ENSG00000004809ENST00000439654p.T87Mc.260C>TSubstitution - Missense
PDE4DENSG00000113448ENST00000317118p.Q464Ec.1390C>GSubstitution - Missense
BPHLENSG00000137274ENST00000380379p.P235Pc.705C>TSubstitution - coding silent
GTF2H4ENSG00000213780ENST00000453897p.K76Nc.228G>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000341594p.V2429Ac.7286T>CSubstitution - Missense
FILIP1ENSG00000118407ENST00000393004p.Q1008Ec.3022C>GSubstitution - Missense
HIPK2ENSG00000064393ENST00000342645p.Q747Kc.2239C>ASubstitution - Missense
PLECENSG00000178209ENST00000356346p.D2192Dc.6576C>TSubstitution - coding silent
TMEM130ENSG00000166448ENST00000416379p.G97Sc.289G>ASubstitution - Missense
ENST00000257665_v70p.T1160Nc.3479C>ASubstitution - Missense
LMX1BENSG00000136944ENST00000373474p.?c.887-3C>AUnknown
PLECENSG00000178209ENST00000354589p.D2206Dc.6618C>TSubstitution - coding silent
ENST00000307015p.L904Vc.2710C>GSubstitution - Missense
ZNF462ENSG00000148143ENST00000457913p.R1709Cc.5125C>TSubstitution - Missense
COL12A1ENSG00000111799ENST00000322507p.P2834Qc.8501C>ASubstitution - Missense
TRPV3ENSG00000167723ENST00000576742p.I413Ic.1239C>TSubstitution - coding silent
ATP6V0A1ENSG00000033627ENST00000343619p.?c.1561-5G>AUnknown
STAT5BENSG00000173757ENST00000293328p.S690Cc.2069C>GSubstitution - Missense
HEXIM1ENSG00000186834ENST00000332499p.S125Sc.375C>TSubstitution - coding silent
UBTFENSG00000108312ENST00000302904p.H629Yc.1885C>TSubstitution - Missense
WDR62ENSG00000075702ENST00000270301p.V643Mc.1927G>ASubstitution - Missense
ENSG00000272333ENST00000222270p.P763Lc.2288C>TSubstitution - Missense
TRIM37ENSG00000108395ENST00000262294p.G796Ac.2387G>CSubstitution - Missense
GGNENSG00000179168ENST00000334928p.A257Ac.771A>GSubstitution - coding silent
WDR87ENSG00000171804ENST00000447313p.R830Cc.2488C>TSubstitution - Missense
MCCC1ENSG00000078070ENST00000265594p.G72Sc.214G>ASubstitution - Missense
PCDH12ENSG00000113555ENST00000231484p.V590Lc.1768G>TSubstitution - Missense
DBHENSG00000123454ENST00000393056p.D284Nc.850G>ASubstitution - Missense
RPL7AENSG00000148303ENST00000323345p.Y60Hc.178T>CSubstitution - Missense
SETXENSG00000107290ENST00000224140p.P2625Lc.7874C>TSubstitution - Missense
GPSM1ENSG00000160360ENST00000354753p.A52Tc.154G>ASubstitution - Missense
GPSM1ENSG00000160360ENST00000392945p.A75Tc.223G>ASubstitution - Missense
RYR1ENSG00000196218ENST00000359596p.C1673Cc.5019C>TSubstitution - coding silent
ROR2ENSG00000169071ENST00000375708p.Q532Qc.1596A>GSubstitution - coding silent
FMR1ENSG00000102081ENST00000370475p.Y103*c.309C>GSubstitution - Nonsense
ZNF75DENSG00000186376ENST00000370766p.F159Vc.475T>GSubstitution - Missense
CNGA2ENSG00000183862ENST00000329903p.T34Ac.100A>GSubstitution - Missense
CAMK2AENSG00000070808ENST00000398376p.F16Fc.48C>TSubstitution - coding silent
PCDHB6ENSG00000113211ENST00000231136p.L610Fc.1828C>TSubstitution - Missense
CCNJLENSG00000135083ENST00000393977p.A406Vc.1217C>TSubstitution - Missense
KIF4BENSG00000226650ENST00000435029p.G75Vc.224G>TSubstitution - Missense
SLC36A2ENSG00000186335ENST00000335244p.L387Lc.1161C>ASubstitution - coding silent
SCAND3ENSG00000232040ENST00000452236p.R407Wc.1219C>TSubstitution - Missense
ENST00000388903p.L934Lc.2802G>CSubstitution - coding silent
GTF2H4ENSG00000213780ENST00000259895p.K76Nc.228G>CSubstitution - Missense
GTF2H4ENSG00000213780ENST00000259895p.K76Nc.228G>CSubstitution - Missense
LRRN3ENSG00000173114ENST00000308478p.K489Nc.1467A>TSubstitution - Missense
LRRN3ENSG00000173114ENST00000308478p.E490Kc.1468G>ASubstitution - Missense
SLC26A4ENSG00000091137ENST00000265715p.H723Rc.2168A>GSubstitution - Missense
KCND2ENSG00000184408ENST00000331113p.E486*c.1456G>TSubstitution - Nonsense
ENST00000316490p.P4016Pc.12048C>TSubstitution - coding silent
EEF2KENSG00000103319ENST00000263026p.E662Kc.1984G>ASubstitution - Missense
WIZENSG00000011451ENST00000263381p.D440Dc.1320C>TSubstitution - coding silent
WIZENSG00000011451ENST00000389282p.D1297Dc.3891C>TSubstitution - coding silent
PKN1ENSG00000123143ENST00000242783p.?c.2216+9G>CUnknown
SLC27A1ENSG00000130304ENST00000442725p.G124Gc.372C>TSubstitution - coding silent
GTPBP3ENSG00000130299ENST00000358792p.V202Mc.604G>ASubstitution - Missense
NBASENSG00000151779ENST00000281513p.P1313Lc.3938C>TSubstitution - Missense
NEBENSG00000183091ENST00000409198p.I794Ic.2382C>TSubstitution - coding silent
TPOENSG00000115705ENST00000345913p.A612Ac.1836C>TSubstitution - coding silent
PRNTENSG00000180259ENST00000326539p.S43Sc.129T>GSubstitution - coding silent
PPP2R2CENSG00000074211ENST00000335585p.Y67*c.201C>GSubstitution - Nonsense
ENST00000215938p.?c.305-4A>GUnknown
HIC2ENSG00000169635ENST00000407464p.P287Sc.859C>TSubstitution - Missense
DFNB31ENSG00000095397ENST00000362057p.?c.2237-4C>TUnknown
DFNB31ENSG00000095397ENST00000374059p.?c.1184-4C>TUnknown
COL27A1ENSG00000196739ENST00000356083p.P436Pc.1308A>GSubstitution - coding silent
DENND3ENSG00000105339ENST00000262585p.T315Mc.944C>TSubstitution - Missense
ENST00000355497_v68p.?c.920-3C>AUnknown
PSMD5ENSG00000095261ENST00000210313p.E291Qc.871G>CSubstitution - Missense
LRRC8AENSG00000136802ENST00000372599p.E800Ec.2400G>ASubstitution - coding silent
GOLGA2ENSG00000167110ENST00000421699p.A480Tc.1438G>ASubstitution - Missense
ADIPOQENSG00000181092ENST00000320741p.P126Sc.376C>TSubstitution - Missense
DDX60LENSG00000181381ENST00000260184p.H421Rc.1262A>GSubstitution - Missense
TKTL2ENSG00000151005ENST00000280605p.I28Lc.82A>CSubstitution - Missense
RAPGEF2ENSG00000109756ENST00000264431p.?c.371-8C>TUnknown
ATP13A4ENSG00000127249ENST00000342695p.D852Nc.2554G>ASubstitution - Missense
SCN10AENSG00000185313ENST00000449082p.F1647Fc.4941C>TSubstitution - coding silent
PLCD1ENSG00000187091ENST00000463876p.R289Wc.865C>TSubstitution - Missense
PLCD1ENSG00000187091ENST00000334661p.R268Wc.802C>TSubstitution - Missense
ZNF619ENSG00000177873ENST00000314686p.?c.81-8T>CUnknown
NDRG4ENSG00000103034ENST00000394279p.T256Mc.767C>TSubstitution - Missense
GPR56ENSG00000205336ENST00000379696p.P200Hc.599C>ASubstitution - Missense
CCDC135ENSG00000159625ENST00000360716p.K237Kc.711G>ASubstitution - coding silent
EPB41L4AENSG00000129595ENST00000261486p.?c.1933-9A>TUnknown
ANKRD53ENSG00000144031ENST00000272421p.?c.618-3_618delcagTUnknown
ENST00000291011p.N90Kc.270C>GSubstitution - Missense
PLCH1ENSG00000114805ENST00000447496p.R180Qc.539G>ASubstitution - Missense
NM_005496.2p.K153Tc.458A>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.V2392Ac.7175T>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000265368p.V2392Ac.7175T>CSubstitution - Missense
SYNE1ENSG00000131018ENST00000423061p.V2399Ac.7196T>CSubstitution - Missense
RPA3ENSG00000106399ENST00000396682p.A75Pc.223G>CSubstitution - Missense
F8ENSG00000185010ENST00000360256p.S714Tc.2140T>ASubstitution - Missense
F8ENSG00000185010ENST00000360256p.S714Tc.2140T>ASubstitution - Missense
GAB3ENSG00000160219ENST00000369575p.I389Ic.1167C>TSubstitution - coding silent
F8ENSG00000185010ENST00000360256p.E1690Gc.5069A>GSubstitution - Missense
TMEM243ENSG00000135185ENST00000257637p.E2Ec.6G>ASubstitution - coding silent
POLR1BENSG00000125630ENST00000263331p.P572Lc.1715C>TSubstitution - Missense
ALPPL2ENSG00000163286ENST00000295453p.G60Gc.180T>CSubstitution - coding silent
ALPPL2ENSG00000163286ENST00000295453p.D61Dc.183C>TSubstitution - coding silent
TRIP12ENSG00000153827ENST00000283943p.?c.5679-4A>GUnknown
IRS1ENSG00000169047ENST00000305123p.S1233Nc.3698G>ASubstitution - Missense
AFTPHENSG00000119844ENST00000238855p.Q645fs*5c.1933delCDeletion - Frameshift
SPTBN1ENSG00000115306ENST00000356805p.E305Kc.913G>ASubstitution - Missense
SPTBN1ENSG00000115306ENST00000333896p.E292Kc.874G>ASubstitution - Missense
CAND2ENSG00000144712ENST00000456430p.L965Vc.2893C>GSubstitution - Missense
TRHENSG00000170893ENST00000302649p.E173Kc.517G>ASubstitution - Missense
SBF1ENSG00000100241ENST00000390679p.R1691Rc.5073T>GSubstitution - coding silent
CELSR3ENSG00000008300ENST00000164024p.T1545Tc.4635A>TSubstitution - coding silent
FRS3ENSG00000137218ENST00000259748p.P307Pc.921G>ASubstitution - coding silent
MUC17ENSG00000169876ENST00000306151p.P2998Lc.8993C>TSubstitution - Missense
MUC17ENSG00000169876ENST00000306151p.Q1903Pc.5708A>CSubstitution - Missense
NDOR1ENSG00000188566ENST00000371521p.P286Pc.858C>TSubstitution - coding silent
NM_005395.2p.P165Ac.493C>GSubstitution - Missense
CDKN2AENSG00000147889ENST00000498124p.G135Gc.405G>ASubstitution - coding silent
CDKN2AENSG00000147889ENST00000304494p.G135Gc.405G>ASubstitution - coding silent
ENST00000380437p.L1431Vc.4291C>GSubstitution - Missense
HAUS6ENSG00000147874ENST00000380502p.K904Qc.2710A>CSubstitution - Missense
ENST00000344519_v61p.T272fs*4c.815_897del83Deletion - Frameshift
KIAA1683ENSG00000130518ENST00000392413p.P184Pc.552G>ASubstitution - coding silent
ENST00000359737p.A1116Ac.3348G>ASubstitution - coding silent
ENST00000344519_v61p.T300fs*4c.898_899insAInsertion - Frameshift
MMP25ENSG00000008516ENST00000336577p.T84Ic.251C>TSubstitution - Missense
KREMEN2ENSG00000131650ENST00000303746p.?c.640+5G>AUnknown
SEZ6L2ENSG00000174938ENST00000308713p.N517Nc.1551C>TSubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.V3868Mc.11602G>ASubstitution - Missense
HCLS1ENSG00000180353ENST00000314583p.N376Tc.1127A>CSubstitution - Missense
HCLS1ENSG00000180353ENST00000314583p.N376Hc.1126A>CSubstitution - Missense
NM_006596.3p.S1501Sc.4503T>ASubstitution - coding silent
CYP4V2ENSG00000145476ENST00000378802p.?c.802-8_810>GCUnknown
FBN2ENSG00000138829ENST00000508053p.A1880Tc.5638G>ASubstitution - Missense
FBN2ENSG00000138829ENST00000262464p.A1880Tc.5638G>ASubstitution - Missense
RPS23ENSG00000186468ENST00000296674p.S23Yc.68C>ASubstitution - Missense
ZCCHC9ENSG00000131732ENST00000380199p.E228Ac.683A>CSubstitution - Missense
SHROOM2ENSG00000146950ENST00000380913p.G476Rc.1426G>CSubstitution - Missense
ZNF236ENSG00000130856ENST00000253159p.N1029Nc.3087T>CSubstitution - coding silent
TRIOBPENSG00000100106ENST00000407319p.R408Rc.1224G>ASubstitution - coding silent
EP300ENSG00000100393ENST00000263253p.?c.730-10T>CUnknown
HAS2ENSG00000170961ENST00000303924p.S124*c.371C>GSubstitution - Nonsense
SVEP1ENSG00000165124ENST00000401783p.N2876Sc.8627A>GSubstitution - Missense
MUC7ENSG00000171195ENST00000304887p.K83fs*23c.240delCDeletion - Frameshift
PROS1ENSG00000184500ENST00000394236p.E160Ec.480A>GSubstitution - coding silent
KRTAP1-5ENSG00000221852ENST00000361883p.T2_P12>Ac.4_34>GComplex - deletion inframe
KRT24ENSG00000167916ENST00000264651p.G79Rc.235G>ASubstitution - Missense
KRT28ENSG00000173908ENST00000306658p.K380Nc.1140G>TSubstitution - Missense
URB1ENSG00000142207ENST00000382751p.A51Ac.153G>ASubstitution - coding silent
URB1ENSG00000142207ENST00000382751p.A51Ac.153G>ASubstitution - coding silent
SLC30A9ENSG00000014824ENST00000264451p.L108Fc.322C>TSubstitution - Missense
PARP3ENSG00000041880ENST00000398755p.H153Yc.457C>TSubstitution - Missense
PARP3ENSG00000041880ENST00000398755p.A242Vc.725C>TSubstitution - Missense
ID4ENSG00000172201ENST00000378700p.?c.442-9C>TUnknown
KPNA7ENSG00000185467ENST00000327442p.E489Ac.1466A>CSubstitution - Missense
KPNA7ENSG00000185467ENST00000327442p.H252Yc.754C>TSubstitution - Missense
KPNA7ENSG00000185467ENST00000327442p.Q251Hc.753G>TSubstitution - Missense
TMEM130ENSG00000166448ENST00000339375p.G97Sc.289G>ASubstitution - Missense
PLECENSG00000178209ENST00000322810p.?c.3335-8T>CUnknown
PLECENSG00000178209ENST00000354958p.?c.2858-8T>CUnknown
PLECENSG00000178209ENST00000322810p.D2343Dc.7029C>TSubstitution - coding silent
PLECENSG00000178209ENST00000436759p.D2233Dc.6699C>TSubstitution - coding silent
PLECENSG00000178209ENST00000345136p.D2206Dc.6618C>TSubstitution - coding silent
ZBTB10ENSG00000205189ENST00000455036p.T278Tc.834C>GSubstitution - coding silent
PIGNENSG00000197563ENST00000357637p.S673Gc.2017A>GSubstitution - Missense
SERPINB5ENSG00000206075ENST00000382771p.N251Ic.752A>TSubstitution - Missense
CPXM1ENSG00000088882ENST00000380605p.Q311Lc.932A>TSubstitution - Missense
DGCR8ENSG00000128191ENST00000351989p.R447Cc.1339C>TSubstitution - Missense
CECR2ENSG00000099954ENST00000262608p.P814Lc.2441C>TSubstitution - Missense
CECR2ENSG00000099954ENST00000400585p.P813Lc.2438C>TSubstitution - Missense
EVX2ENSG00000174279ENST00000308618p.S160Lc.479C>TSubstitution - Missense
CCDC150ENSG00000144395ENST00000389175p.K665Kc.1995G>ASubstitution - coding silent
SLC5A2ENSG00000140675ENST00000330498p.P626Pc.1878G>ASubstitution - coding silent
ITGAMENSG00000169896ENST00000287497p.F355Lc.1063T>CSubstitution - Missense
ITGAMENSG00000169896ENST00000287497p.R749Wc.2245C>TSubstitution - Missense
ADRM1ENSG00000130706ENST00000253003p.A175Ac.525C>TSubstitution - coding silent
MYADMENSG00000179820ENST00000391768p.I219Ic.657C>TSubstitution - coding silent
ZNF611ENSG00000213020ENST00000319783p.E14Gc.41A>GSubstitution - Missense
XDHENSG00000158125ENST00000379416p.?c.1602+6T>AUnknown
MEMO1ENSG00000162959ENST00000295065p.T38Sc.112A>TSubstitution - Missense
FOSL2ENSG00000075426ENST00000264716p.L152Lc.454C>TSubstitution - coding silent
GCKRENSG00000084734ENST00000264717p.V50Ic.148G>ASubstitution - Missense
ENST00000405167p.T3023Nc.9068C>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S3413Nc.10238G>ASubstitution - Missense
ENST00000405167p.S3413Nc.10238G>ASubstitution - Missense
ENST00000405167p.P3456Sc.10366C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A1518Tc.4552G>ASubstitution - Missense
ENST00000405167p.A1518Tc.4552G>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A1513Vc.4538C>TSubstitution - Missense
ENST00000405167p.A1513Vc.4538C>TSubstitution - Missense
CFIENSG00000205403ENST00000394634p.G527Gc.1581C>TSubstitution - coding silent
DUSP26ENSG00000133878ENST00000256261p.G155Gc.465C>TSubstitution - coding silent
WRNENSG00000165392ENST00000298139p.T781Ic.2342C>TSubstitution - Missense
DSPPENSG00000152591ENST00000399271p.E103Vc.308A>TSubstitution - Missense
FAM175AENSG00000163322ENST00000321945p.V9Gc.26T>GSubstitution - Missense
WHSC1L1ENSG00000147548ENST00000317025p.D639Dc.1917T>CSubstitution - coding silent
XM_373347.2p.M95Vc.283A>GSubstitution - Missense
EFHC2ENSG00000183690ENST00000420999p.?c.1364+6T>CUnknown
FAM47CENSG00000198173ENST00000358047p.S616Sc.1848T>CSubstitution - coding silent
FAM47CENSG00000198173ENST00000358047p.P635Pc.1905C>TSubstitution - coding silent
ZNF671ENSG00000083814ENST00000317398p.L257Lc.771T>GSubstitution - coding silent
ZBTB45ENSG00000119574ENST00000354590p.A123Tc.367G>ASubstitution - Missense
TRIM28ENSG00000130726ENST00000253024p.L740Lc.2218C>TSubstitution - coding silent
ZSCAN22ENSG00000182318ENST00000329665p.S187Fc.560C>TSubstitution - Missense
ZNF329ENSG00000181894ENST00000358067p.E134*c.400G>TSubstitution - Nonsense
TMEM104ENSG00000109066ENST00000335464p.G185Sc.553G>ASubstitution - Missense
DYNC1LI1ENSG00000144635ENST00000273130p.T515Ac.1543A>GSubstitution - Missense
GPRC5DENSG00000111291ENST00000228887p.P281Pc.843C>TSubstitution - coding silent
NCOR2ENSG00000196498ENST00000405201p.P2105Pc.6315G>ASubstitution - coding silent
PRAMEF2ENSG00000120952ENST00000240189p.V425Ac.1274T>CSubstitution - Missense
NEGR1ENSG00000172260ENST00000357731p.G233Vc.698G>TSubstitution - Missense
PDE4BENSG00000184588ENST00000329654p.?c.43-1G>AUnknown
PDE4BENSG00000184588ENST00000329654p.?c.282-6T>AUnknown
PDE4BENSG00000184588ENST00000423207p.?c.237-6T>AUnknown
HERC1ENSG00000103657ENST00000443617p.C2970Gc.8908T>GSubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.C2970Gc.8908T>GSubstitution - Missense
EPHX4ENSG00000172031ENST00000370383p.L301Lc.903A>GSubstitution - coding silent
C1orf170ENSG00000187642ENST00000341290p.M214Tc.641T>CSubstitution - Missense
MYO16ENSG00000041515ENST00000357550p.Q1176Qc.3528A>GSubstitution - coding silent
ENST00000414268p.P947Lc.2840C>TSubstitution - Missense
CASC5ENSG00000137812ENST00000346991p.P274Lc.821C>TSubstitution - Missense
CASC5ENSG00000137812ENST00000346991p.P274Lc.821C>TSubstitution - Missense
WDR59ENSG00000103091ENST00000262144p.N440Nc.1320C>TSubstitution - coding silent
GABARAPL2ENSG00000034713ENST00000037243p.?c.90+9A>CUnknown
SIRPGENSG00000089012ENST00000303415p.R239Cc.715C>TSubstitution - Missense
ATICENSG00000138363ENST00000236959p.M88Ic.264G>ASubstitution - Missense
TDRD15ENSG00000218819ENST00000405799p.A127Ac.381G>ASubstitution - coding silent
CHD7ENSG00000171316ENST00000423902p.P369Sc.1105C>TSubstitution - Missense
EFCAB1ENSG00000034239ENST00000262103p.K8Rc.23A>GSubstitution - Missense
ENOX2ENSG00000165675ENST00000370927p.P239Pc.717A>GSubstitution - coding silent
TENM1ENSG00000009694ENST00000371130p.E2290fs*18c.6868delGDeletion - Frameshift
PTCH1ENSG00000185920ENST00000331920p.R1303Hc.3908G>ASubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.R1302Hc.3905G>ASubstitution - Missense
H2BFWTENSG00000123569ENST00000217926p.R3Cc.7C>TSubstitution - Missense
ZNF624ENSG00000197566ENST00000311331p.S452Pc.1354T>CSubstitution - Missense
GUCY2FENSG00000101890ENST00000218006p.P294Lc.881C>TSubstitution - Missense
COL4A5ENSG00000188153ENST00000361603p.C1678Fc.5033G>TSubstitution - Missense
MYO15AENSG00000091536ENST00000205890p.G2811Rc.8431G>ASubstitution - Missense
SREBF1ENSG00000072310ENST00000355815p.V740Mc.2218G>ASubstitution - Missense
ZNF257ENSG00000197134ENST00000435820p.H167Hc.501T>CSubstitution - coding silent
TMPRSS9ENSG00000178297ENST00000332578p.G637Ec.1910G>ASubstitution - Missense
MYH14ENSG00000105357ENST00000262269p.?c.4032+2T>AUnknown
ENST00000301415p.?c.3909+2T>AUnknown
TRPM4ENSG00000130529ENST00000252826p.G324Wc.970G>TSubstitution - Missense
CBFA2T2ENSG00000078699ENST00000342704p.C252Yc.755G>ASubstitution - Missense
LIM2ENSG00000105370ENST00000221973p.Y161Yc.483C>TSubstitution - coding silent
CTU1ENSG00000142544ENST00000421832p.P212Pc.636G>TSubstitution - coding silent
DDX27ENSG00000124228ENST00000371764p.G138Rc.412G>ASubstitution - Missense
SIGLEC1ENSG00000088827ENST00000202578p.F158Fc.474C>TSubstitution - coding silent
FAM205AENSG00000205108ENST00000378788p.A1239Tc.3715G>ASubstitution - Missense
GDAENSG00000119125ENST00000238018p.I188Tc.563T>CSubstitution - Missense
GDAENSG00000119125ENST00000414671p.S15Pc.43T>CSubstitution - Missense
NM_032682.3p.A629Ac.1887C>TSubstitution - coding silent
KCNS2ENSG00000156486ENST00000287042p.A94Pc.280G>CSubstitution - Missense
EFCAB3ENSG00000172421ENST00000450662p.N391Kc.1173T>ASubstitution - Missense
SMG6ENSG00000070366ENST00000263073p.M32Tc.95T>CSubstitution - Missense
DSG2ENSG00000046604ENST00000261590p.L64Vc.190C>GSubstitution - Missense
DOCK6ENSG00000130158ENST00000319867p.P46Pc.138A>GSubstitution - coding silent
QTRT1ENSG00000213339ENST00000250237p.T389Tc.1167C>GSubstitution - coding silent
SLC14A2ENSG00000132874ENST00000255226p.T33Sc.97A>TSubstitution - Missense
ENST00000360228_v70p.M1558Vc.4672A>GSubstitution - Missense
ENST00000325084p.M1559Vc.4675A>GSubstitution - Missense
ENST00000357018p.M1559Vc.4675A>GSubstitution - Missense
TNPO2ENSG00000105576ENST00000425528p.?c.771+7A>GUnknown
TNPO2ENSG00000105576ENST00000441499p.?c.771+7A>GUnknown
ZNF443ENSG00000180855ENST00000301547p.?c.3+4C>AUnknown
ENST00000380102_v68p.T91Tc.273G>ASubstitution - coding silent
LRRC3ENSG00000160233ENST00000291592p.L71Lc.213C>TSubstitution - coding silent
TSPEARENSG00000175894ENST00000323084p.R122Rc.364C>ASubstitution - coding silent
TRAPPC10ENSG00000160218ENST00000291574p.S1175Fc.3524C>TSubstitution - Missense
ENST00000400449p.Q48Qc.144A>GSubstitution - coding silent
OR5B2ENSG00000172365ENST00000302581p.H174Yc.520C>TSubstitution - Missense
NDUFV1ENSG00000167792ENST00000322776p.H281Hc.843T>CSubstitution - coding silent
CARNS1ENSG00000172508ENST00000445895p.R856Cc.2566C>TSubstitution - Missense
CARNS1ENSG00000172508ENST00000307823p.R291Cc.871C>TSubstitution - Missense
UBE2NENSG00000177889ENST00000318066p.E26Kc.76G>ASubstitution - Missense
CLLU1OSENSG00000205057ENST00000378487p.?c.142+10C>TUnknown
KRTAP5-10ENSG00000204572ENST00000398531p.S106Sc.318T>CSubstitution - coding silent
ABCC2ENSG00000023839ENST00000370449p.K766Rc.2297A>GSubstitution - Missense
IPO7ENSG00000205339ENST00000379719p.R167Qc.500G>ASubstitution - Missense
SLC41A2ENSG00000136052ENST00000258538p.R431Rc.1293G>ASubstitution - coding silent
C12orf73ENSG00000204954ENST00000378090p.Q63Qc.189A>GSubstitution - coding silent
SLC38A2ENSG00000134294ENST00000256689p.S280Fc.839C>TSubstitution - Missense
DCLK1ENSG00000133083ENST00000379893p.S431Lc.1292C>TSubstitution - Missense
USPL1ENSG00000132952ENST00000255304p.D132Dc.396C>TSubstitution - coding silent
CENPJENSG00000151849ENST00000381884p.M21Lc.61A>TSubstitution - Missense
ATF6ENSG00000118217ENST00000367942p.V233Ic.697G>ASubstitution - Missense
FAM131CENSG00000185519ENST00000375662p.S168Lc.503C>TSubstitution - Missense
KRR1ENSG00000111615ENST00000229214p.?c.519+2_520del84Unknown
KRR1ENSG00000111615ENST00000229214p.?c.393+2_394del172Unknown
KRR1ENSG00000111615ENST00000229214p.?c.85+1_86-1del3066Unknown
IFT46ENSG00000118096ENST00000264020p.N322Ic.965A>TSubstitution - Missense
IL10RAENSG00000110324ENST00000227752p.Q375Qc.1125G>ASubstitution - coding silent
KIAA1377ENSG00000110318ENST00000263468p.G813Sc.2437G>ASubstitution - Missense
ENST00000298815_v65p.P319Lc.956C>TSubstitution - Missense
ARHGEF12ENSG00000196914ENST00000397843p.H966Dc.2896C>GSubstitution - Missense
PAMR1ENSG00000149090ENST00000278360p.T102fs*4c.295_296insGInsertion - Frameshift
C11orf21ENSG00000110665ENST00000456145p.T120fs*4c.355_356insCInsertion - Frameshift
ENSG00000170276ENST00000304298p.A167Vc.500C>TSubstitution - Missense
NM_004284.2p.?c.896-10T>AUnknown
RHOCENSG00000155366ENST00000339083p.A3Ac.9A>TSubstitution - coding silent
KCND3ENSG00000171385ENST00000315987p.S112Cc.335C>GSubstitution - Missense
ITPRIPL2ENSG00000205730ENST00000381440p.R169Hc.506G>ASubstitution - Missense
KIAA1217ENSG00000120549ENST00000376454p.I1133Vc.3397A>GSubstitution - Missense
PTGR2ENSG00000140043ENST00000267568p.G93Gc.279C>TSubstitution - coding silent
SU_SK473p.R297Rc.889A>CSubstitution - coding silent
YLPM1ENSG00000119596ENST00000238571p.K540Nc.1620G>TSubstitution - Missense
ENSG00000188897ENST00000344649p.Q153Ec.457C>GSubstitution - Missense
ANK3ENSG00000151150ENST00000280772p.A2006Vc.6017C>TSubstitution - Missense
AKR1C4ENSG00000198610ENST00000380448p.L63Qc.188T>ASubstitution - Missense
AGAP6ENSG00000204149ENST00000374056p.R507Lc.1520G>TSubstitution - Missense
PSAPENSG00000197746ENST00000394936p.L387Lc.1161C>GSubstitution - coding silent
HK1ENSG00000156515ENST00000359426p.E316Qc.946G>CSubstitution - Missense
HK1ENSG00000156515ENST00000298649p.E315Qc.943G>CSubstitution - Missense
VPS26AENSG00000122958ENST00000373382p.G220fs*13c.659_668del10Deletion - Frameshift
PFKFB3ENSG00000170525ENST00000379775p.V71Ic.211G>ASubstitution - Missense
SLC22A11ENSG00000168065ENST00000301891p.?c.1059-4G>AUnknown
CNGA4ENSG00000132259ENST00000379936p.R160Cc.478C>TSubstitution - Missense
SYVN1ENSG00000162298ENST00000377190p.P392Pc.1176A>CSubstitution - coding silent
PTCH2ENSG00000117425ENST00000372192p.S391fs*1c.1172_1173delCTDeletion - Frameshift
CD101ENSG00000134256ENST00000369470p.N125Nc.375C>TSubstitution - coding silent
IGSF3ENSG00000143061ENST00000369486p.K187Qc.559A>CSubstitution - Missense
IGSF3ENSG00000143061ENST00000369483p.K187Qc.559A>CSubstitution - Missense
MMACHCENSG00000132763ENST00000401061p.R112Cc.334C>TSubstitution - Missense
DMRTA2ENSG00000142700ENST00000404795p.G225Ec.674G>ASubstitution - Missense
SOS2ENSG00000100485ENST00000216373p.D180Dc.540C>TSubstitution - coding silent
MIA2ENSG00000150526ENST00000280082p.I623Vc.1867A>GSubstitution - Missense
NIPA2ENSG00000140157ENST00000359727p.A63Sc.187G>TSubstitution - Missense
KLHL42ENSG00000087448ENST00000381271p.L118Lc.354G>ASubstitution - coding silent
PPFIBP1ENSG00000110841ENST00000228425p.R211Sc.633G>TSubstitution - Missense
TPM3ENSG00000143549ENST00000368531p.T241Mc.722C>TSubstitution - Missense
KIF21BENSG00000116852ENST00000332129p.Q332*c.994C>TSubstitution - Nonsense
RUSC1ENSG00000160753ENST00000292254p.L188Lc.564C>TSubstitution - coding silent
SLC26A9ENSG00000174502ENST00000367134p.P874fs*>14c.2621delCDeletion - Frameshift
ALDH1A2ENSG00000128918ENST00000249750p.S125Fc.374C>TSubstitution - Missense
BRAFENSG00000157764ENST00000288602p.V600Ec.1799T>ASubstitution - Missense
ENST00000414315p.P20Lc.59C>TSubstitution - Missense
PUS7LENSG00000129317ENST00000344862p.K475Nc.1425G>CSubstitution - Missense
GPRC6AENSG00000173612ENST00000310357p.D872Gc.2615A>GSubstitution - Missense
ZFHX3ENSG00000140836ENST00000268489p.A3624Ac.10872T>CSubstitution - coding silent
TRANK1ENSG00000168016ENST00000301807p.R1613Wc.4837C>TSubstitution - Missense
TRANK1ENSG00000168016ENST00000428977p.R1620Wc.4858C>TSubstitution - Missense
ZNF687ENSG00000143373ENST00000324048p.E1030Qc.3088G>CSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.R694Qc.2081G>ASubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.R694Qc.2081G>ASubstitution - Missense
CAPRIN1ENSG00000135387ENST00000341394p.R239Hc.716G>ASubstitution - Missense
ST3GAL3ENSG00000126091ENST00000361746p.Y147Yc.441C>TSubstitution - coding silent
ENST00000361570_v62p.R163Qc.488G>ASubstitution - Missense
CDKN2AENSG00000147889ENST00000446177p.D108Nc.322G>ASubstitution - Missense
ENGASEENSG00000167280ENST00000579016p.?c.1701-5C>TUnknown
ENST00000414523p.R326Ic.977G>TSubstitution - Missense
GALNT8ENSG00000130035ENST00000252318p.P339Lc.1016C>TSubstitution - Missense
MROH9ENSG00000117501ENST00000367758p.P503Lc.1508C>TSubstitution - Missense
ADH1AENSG00000187758ENST00000209668p.S165Lc.494C>TSubstitution - Missense
ANK1ENSG00000029534ENST00000347528p.N1013Nc.3039C>TSubstitution - coding silent
MROH9ENSG00000117501ENST00000367759p.P503Lc.1508C>TSubstitution - Missense
PLCH1ENSG00000114805ENST00000334686p.R162Qc.485G>ASubstitution - Missense
HMMRENSG00000072571ENST00000358715p.I237Vc.709A>GSubstitution - Missense
TP53ENSG00000141510ENST00000455263p.P152Lc.455C>TSubstitution - Missense
OLFM1ENSG00000130558ENST00000252854p.A135Vc.404C>TSubstitution - Missense
MAMDC4ENSG00000177943ENST00000445819p.G1033Rc.3097G>ASubstitution - Missense
ZNF740ENSG00000139651ENST00000416904p.V87Vc.261G>ASubstitution - coding silent
ZNF740ENSG00000139651ENST00000416904p.S184Ac.550T>GSubstitution - Missense
CD276ENSG00000103855ENST00000318443p.G451Sc.1351G>ASubstitution - Missense
STYK1ENSG00000060140ENST00000075503p.H249Hc.747T>CSubstitution - coding silent
PWP1ENSG00000136045ENST00000412830p.D98Yc.292G>TSubstitution - Missense
GATA3ENSG00000107485ENST00000379328p.T152Pc.454A>CSubstitution - Missense
DUSP13ENSG00000079393ENST00000394707p.?c.279-6T>CUnknown
ENST00000356369p.?c.387-6T>CUnknown
ZSWIM8ENSG00000214655ENST00000398706p.G1084Gc.3252C>TSubstitution - coding silent
MSS51ENSG00000166343ENST00000372912p.V76Lc.226G>TSubstitution - Missense
WNT3AENSG00000154342ENST00000284523p.V124Vc.372G>ASubstitution - coding silent
HSPA8ENSG00000109971ENST00000532636p.E118Kc.352G>ASubstitution - Missense
MICALCLENSG00000133808ENST00000256186p.Q512Rc.1535A>GSubstitution - Missense
PI4K2AENSG00000155252ENST00000555577p.P40Pc.120C>TSubstitution - coding silent
C10orf12ENSG00000155640ENST00000286067p.E365Kc.1093G>ASubstitution - Missense
NM_022112.1p.G65Gc.195C>ASubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.S2773Sc.8319G>ASubstitution - coding silent
ROBO3ENSG00000154134ENST00000397801p.L962Lc.2886G>ASubstitution - coding silent
ROBO3ENSG00000154134ENST00000397801p.L962Lc.2886G>ASubstitution - coding silent
RAPSNENSG00000165917ENST00000298854p.G47Dc.140G>ASubstitution - Missense
F2ENSG00000180210ENST00000311907p.T351Tc.1053C>TSubstitution - coding silent
ARHGAP1ENSG00000175220ENST00000311956p.P415Pc.1245C>TSubstitution - coding silent
LRRC71ENSG00000160838ENST00000337428p.G236Ec.707G>ASubstitution - Missense
AVILENSG00000135407ENST00000257861p.E584Kc.1750G>ASubstitution - Missense
DISC1ENSG00000162946ENST00000317586p.R286Gc.856A>GSubstitution - Missense
TCEA3ENSG00000204219ENST00000450454p.?c.664+6C>TUnknown
RECQLENSG00000004700ENST00000444129p.H461Rc.1382A>GSubstitution - Missense
KRT6BENSG00000185479ENST00000252252p.G532Gc.1596C>TSubstitution - coding silent
KIF7ENSG00000166813ENST00000394412p.S1230Lc.3689C>TSubstitution - Missense
POLGENSG00000140521ENST00000268124p.A1082Ac.3246C>ASubstitution - coding silent
GOLGA6L4ENSG00000184206ENST00000510439p.D164fs*6c.488delADeletion - Frameshift
ADAM12ENSG00000148848ENST00000368676p.?c.920+8G>TUnknown
ADAM12ENSG00000148848ENST00000368679p.?c.920+8G>TUnknown
OR6S1ENSG00000181803ENST00000320704p.R264Wc.790C>TSubstitution - Missense
AHNAK2ENSG00000185567ENST00000333244p.R2794Qc.8381G>ASubstitution - Missense
METTL3ENSG00000165819ENST00000298717p.R47Cc.139C>TSubstitution - Missense


COSMIC

2 mutations reported
1 synonymous mutations reported
Filter:
External Data Sources: Catalogue of Somatic Mutations in Cancer
Gene Name(s) Gene Transcript AA Syntax CDS Syntax Mutation Type Pubmed ID
TERTENSG00000164362ENST00000310581p.?c.1-124C>TUnknown23833040
BRAFENSG00000157764ENST00000288602p.V600Ec.?Substitution - Missense23833040