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HAL-01 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

792 mutations reported
339 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
PCDHB10ENSG00000120324ENST00000239446p.G622Gc.1866G>CSubstitution - coding silent
CCDC70ENSG00000123171ENST00000242819p.I62Lc.184A>TSubstitution - Missense
NTMENSG00000182667ENST00000374791p.S33Sc.99C>TSubstitution - coding silent
NTMENSG00000182667ENST00000374786p.S33Sc.99C>TSubstitution - coding silent
ZNF365ENSG00000138311ENST00000395255p.S305Sc.915C>TSubstitution - coding silent
RALGAPA1ENSG00000174373ENST00000389698p.H243Qc.729T>GSubstitution - Missense
LCE6AENSG00000235942ENST00000431011p.E76*c.226G>TSubstitution - Nonsense
CCDC18ENSG00000122483ENST00000334652p.R1226Rc.3678G>ASubstitution - coding silent
ENST00000409172p.G46Rc.136G>ASubstitution - Missense
SEZ6ENSG00000063015ENST00000317338p.G687Rc.2059G>ASubstitution - Missense
NM_032457.1p.S902Sc.2706C>TSubstitution - coding silent
MTUS1ENSG00000129422ENST00000262102p.V993Ic.2977G>ASubstitution - Missense
EPHB6ENSG00000106123ENST00000392957p.V405Vc.1215C>ASubstitution - coding silent
RAPH1ENSG00000173166ENST00000319170p.G557Ac.1670G>CSubstitution - Missense
CCDC157ENSG00000187860ENST00000338306p.P588Tc.1762C>ASubstitution - Missense
TIGD2ENSG00000180346ENST00000317005p.G397Sc.1189G>ASubstitution - Missense
SCN5AENSG00000183873ENST00000413689p.S1925Sc.5775C>GSubstitution - coding silent
PORENSG00000127948ENST00000450476p.?c.945+5_945+13delgccccctcaUnknown
MCTP1ENSG00000175471ENST00000515393p.T835Sc.2503A>TSubstitution - Missense
PCDHA2ENSG00000204969ENST00000378132p.G588Rc.1762G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000383329p.S140Yc.419C>ASubstitution - Missense
TTC16ENSG00000167094ENST00000373289p.G345Gc.1035C>TSubstitution - coding silent
GRIA3ENSG00000125675ENST00000541091p.Y227Fc.680A>TSubstitution - Missense
PLAAENSG00000137055ENST00000397292p.L792Ic.2374C>ASubstitution - Missense
GRIA3ENSG00000125675ENST00000371256p.Y243Fc.728A>TSubstitution - Missense
PRR12ENSG00000126464ENST00000418929p.P894Hc.2681C>ASubstitution - Missense
PTCH1ENSG00000185920ENST00000331920p.P1211Pc.3633C>TSubstitution - coding silent
TLR6ENSG00000174130ENST00000381950p.M59Tc.176T>CSubstitution - Missense
DCCENSG00000187323ENST00000442544p.F465Lc.1395T>ASubstitution - Missense
PSMB10ENSG00000205220ENST00000358514p.T266Tc.798T>GSubstitution - coding silent
POM121CENSG00000135213ENST00000453279p.A786Tc.2356G>ASubstitution - Missense
NM_148674.1p.?c.2701-6A>CUnknown
KIAA0825ENSG00000185261ENST00000312498p.R563Qc.1688G>ASubstitution - Missense
HLA-CENSG00000204525ENST00000376228p.S140Yc.419C>ASubstitution - Missense
PCDHA2ENSG00000204969ENST00000526136p.G588Rc.1762G>ASubstitution - Missense
YBX1ENSG00000065978ENST00000436427p.P300Sc.898C>TSubstitution - Missense
WDR52ENSG00000206530ENST00000308346p.T291Tc.873A>GSubstitution - coding silent
FANCLENSG00000115392ENST00000233741p.D208Nc.622G>ASubstitution - Missense
FCGR3BENSG00000162747ENST00000294800p.V100Vc.300G>ASubstitution - coding silent
TRIM29ENSG00000137699ENST00000341846p.S408*c.1223C>ASubstitution - Nonsense
CACNA1HENSG00000196557ENST00000358590p.A333Tc.997G>ASubstitution - Missense
IGSF3ENSG00000143061ENST00000369483p.V489Mc.1465G>ASubstitution - Missense
MMP10ENSG00000166670ENST00000279441p.Y400Hc.1198T>CSubstitution - Missense
KARSENSG00000065427ENST00000319410p.F415Fc.1245C>TSubstitution - coding silent
CERKLENSG00000188452ENST00000339098p.Q402Pc.1205A>CSubstitution - Missense
SPIBENSG00000269404ENST00000270632p.P126Lc.377C>TSubstitution - Missense
MIER2ENSG00000105556ENST00000264819p.?c.244-10C>TUnknown
DNAH2ENSG00000183914ENST00000570791p.L751fs*32c.2244_2245delTCDeletion - Frameshift
HTN1ENSG00000126550ENST00000246896p.F43Lc.129T>GSubstitution - Missense
AATKENSG00000181409ENST00000326724p.L1154Lc.3462G>ASubstitution - coding silent
LRRTM1ENSG00000162951ENST00000295057p.P454Qc.1361C>ASubstitution - Missense
ZNF705AENSG00000196946ENST00000402465p.T440Rc.1319C>GSubstitution - Missense
ANKRD53ENSG00000144031ENST00000360589p.?c.618-3_618delcagTUnknown
CHRNGENSG00000196811ENST00000389494p.?c.196-9C>TUnknown
IFT122ENSG00000163913ENST00000296266p.?c.2145+7A>GUnknown
ZNF425ENSG00000204947ENST00000378061p.K39*c.115A>TSubstitution - Nonsense
PCDHB8ENSG00000120322ENST00000239444p.P670Pc.2010C>GSubstitution - coding silent
NEIL3ENSG00000109674ENST00000264596p.G523Ec.1568G>ASubstitution - Missense
HTR1AENSG00000178394ENST00000323865p.G284Gc.852T>GSubstitution - coding silent
BSPRYENSG00000119411ENST00000374183p.D270Dc.810C>TSubstitution - coding silent
IQCDENSG00000166578ENST00000416617p.K231Ec.691A>GSubstitution - Missense
EML5ENSG00000165521ENST00000352093p.R407Kc.1220G>ASubstitution - Missense
PODXLENSG00000128567ENST00000541194p.P191Pc.573C>GSubstitution - coding silent
SORBS1ENSG00000095637ENST00000371247p.R74Wc.220C>TSubstitution - Missense
WRAP73ENSG00000116213ENST00000270708p.C98Fc.293G>TSubstitution - Missense
CHD4ENSG00000111642ENST00000309577p.?c.4599+6C>AUnknown
DIO3ENSG00000197406ENST00000510508p.V141Ac.422T>CSubstitution - Missense
EFCAB13ENSG00000178852ENST00000331493p.I228Vc.682A>GSubstitution - Missense
NM_000828.2p.Y243Fc.728A>TSubstitution - Missense
DHRS13ENSG00000167536ENST00000378895p.I144Vc.430A>GSubstitution - Missense
WDR27ENSG00000184465ENST00000448612p.?c.1482-6C>TUnknown
NM_007266.1p.A6Ac.18T>GSubstitution - coding silent
ARHGAP24ENSG00000138639ENST00000395184p.?c.600-10G>TUnknown
PLA2G15ENSG00000103066ENST00000219345p.V408Vc.1224G>CSubstitution - coding silent
MUC17ENSG00000169876ENST00000306151p.T3500Kc.10499C>ASubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.Q4488Qc.13464G>ASubstitution - coding silent
ENST00000376710p.N250Kc.750C>GSubstitution - Missense
SPATA31E1ENSG00000177992ENST00000325643p.G75Cc.223G>TSubstitution - Missense
HLFENSG00000108924ENST00000226067p.I253Fc.757A>TSubstitution - Missense
PHACTR1ENSG00000112137ENST00000332995p.G290Sc.868G>ASubstitution - Missense
LAMA2ENSG00000196569ENST00000421865p.W739Cc.2217G>TSubstitution - Missense
ENST00000539307p.S177Yc.530C>ASubstitution - Missense
ENST00000309900p.R170Qc.509G>ASubstitution - Missense
HECW1ENSG00000002746ENST00000395891p.N371Nc.1113C>TSubstitution - coding silent
CD97ENSG00000123146ENST00000242786p.M309Rc.926T>GSubstitution - Missense
CHRDENSG00000090539ENST00000310236p.R89Rc.267G>ASubstitution - coding silent
SNAP47ENSG00000143740ENST00000315781p.T168Ac.502A>GSubstitution - Missense
KIAA1731ENSG00000166004ENST00000411936p.?c.5597-10T>CUnknown
COL15A1ENSG00000204291ENST00000375001p.D1142Gc.3425A>GSubstitution - Missense
MCM9ENSG00000111877ENST00000316316p.V12Mc.34G>ASubstitution - Missense
ZNF599ENSG00000153896ENST00000329285p.H441fs*8c.1318_1319insAInsertion - Frameshift
PCDHGA3ENSG00000254245ENST00000253812p.Q400Qc.1200A>GSubstitution - coding silent
CASP14ENSG00000105141ENST00000427043p.Y12Hc.34T>CSubstitution - Missense
ZNF79ENSG00000196152ENST00000342483p.G101Gc.303C>TSubstitution - coding silent
PLECENSG00000178209ENST00000354589p.T3276Tc.9828G>ASubstitution - coding silent
OR51D1ENSG00000197428ENST00000357605p.N300Kc.900C>ASubstitution - Missense
PDE8AENSG00000073417ENST00000310298p.A227Ac.681A>GSubstitution - coding silent
NTRK3ENSG00000140538ENST00000317501p.P586Pc.1758C>TSubstitution - coding silent
VENTXENSG00000151650ENST00000325980p.?c.403-10T>CUnknown
GPR123ENSG00000197177ENST00000392607p.P131Sc.391C>TSubstitution - Missense
GOLGA8IENSG00000153666ENST00000450802p.I357Lc.1069A>CSubstitution - Missense
MUC19ENSG00000205592ENST00000425730p.?c.1332-1G>AUnknown
KAT5ENSG00000172977ENST00000341318p.K437Kc.1311G>ASubstitution - coding silent
ATG2AENSG00000110046ENST00000377264p.S383Tc.1147T>ASubstitution - Missense
CXorf57ENSG00000147231ENST00000372548p.D803Vc.2408A>TSubstitution - Missense
IGSF5ENSG00000183067ENST00000380588p.E333fs*4c.996_997delAGDeletion - Frameshift
RNF213ENSG00000173821ENST00000336301p.I3033Ic.9099C>TSubstitution - coding silent
SVOPLENSG00000157703ENST00000419765p.R266Kc.797G>ASubstitution - Missense
ZNF532ENSG00000074657ENST00000336078p.V220Ic.658G>ASubstitution - Missense
ZSCAN5BENSG00000197213ENST00000358992p.?c.740-4C>GUnknown
GCC2ENSG00000135968ENST00000309863p.I318Vc.952A>GSubstitution - Missense
POLR1BENSG00000125630ENST00000263331p.G13Ec.38G>ASubstitution - Missense
GFPT2ENSG00000131459ENST00000253778p.R92Cc.274C>TSubstitution - Missense
FGF2ENSG00000138685ENST00000264498p.D183Dc.549C>TSubstitution - coding silent
MAGT1ENSG00000102158ENST00000358075p.?c.628-1G>TUnknown
ALAS2ENSG00000158578ENST00000396198p.T341Tc.1023C>GSubstitution - coding silent
FAM53CENSG00000120709ENST00000239906p.R249Qc.746G>ASubstitution - Missense
OR1E1ENSG00000180016ENST00000322608p.V247Vc.741G>TSubstitution - coding silent
ENST00000316490_v65p.N2888Sc.8663A>GSubstitution - Missense
KIFC1ENSG00000237649ENST00000428849p.R478Qc.1433G>ASubstitution - Missense
GPATCH4ENSG00000160818ENST00000438976p.G295Ec.884G>ASubstitution - Missense
CACNA1HENSG00000196557ENST00000348261p.A333Tc.997G>ASubstitution - Missense
PNPLA7ENSG00000130653ENST00000406427p.V332Ac.995T>CSubstitution - Missense
PLA2G15ENSG00000103066ENST00000219345p.S133Sc.399C>TSubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.T2038Ic.6113C>TSubstitution - Missense
PDZRN4ENSG00000165966ENST00000402685p.A15Sc.43G>TSubstitution - Missense
OLAHENSG00000152463ENST00000378217p.G288Gc.864G>CSubstitution - coding silent
MNS1ENSG00000138587ENST00000260453p.M152Vc.454A>GSubstitution - Missense
PTH2ENSG00000142538ENST00000270631p.P59Sc.175C>TSubstitution - Missense
PRPF8ENSG00000174231ENST00000304992p.?c.867-9G>CUnknown
PTCH1ENSG00000185920ENST00000331920p.P1211Pc.3633C>TSubstitution - coding silent
SCINENSG00000006747ENST00000297029p.F635Ic.1903T>ASubstitution - Missense
SALL4ENSG00000101115ENST00000217086p.G452Cc.1354G>TSubstitution - Missense
CSMD1ENSG00000183117ENST00000537824p.D3125Yc.9373G>TSubstitution - Missense
POT1ENSG00000128513ENST00000357628p.V326Ac.977T>CSubstitution - Missense
SU_Erk7p.G233Ec.698G>ASubstitution - Missense
TRRAPENSG00000196367ENST00000359863p.L2130Lc.6388C>TSubstitution - coding silent
PLECENSG00000178209ENST00000354958p.F4050Fc.12150C>TSubstitution - coding silent
RRHENSG00000180245ENST00000317735p.V19Ac.56T>CSubstitution - Missense
ARSHENSG00000205667ENST00000381130p.F99Lc.297T>ASubstitution - Missense
RTTNENSG00000176225ENST00000255674p.P654Pc.1962C>TSubstitution - coding silent
KIAA0825ENSG00000185261ENST00000513200p.R563Qc.1688G>ASubstitution - Missense
DHX16ENSG00000204560ENST00000376442p.Q966delQc.2889_2891delACADeletion - In frame
TTC16ENSG00000167094ENST00000393748p.G169Gc.507C>TSubstitution - coding silent
ZNF567ENSG00000189042ENST00000536254p.G315Ac.944G>CSubstitution - Missense
TAF4BENSG00000141384ENST00000400466p.A246Pc.736G>CSubstitution - Missense
PSMD1ENSG00000173692ENST00000308696p.I935Ic.2805C>TSubstitution - coding silent
ALKBH8ENSG00000137760ENST00000428149p.Y374Cc.1121A>GSubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.?c.5597-10T>CUnknown
UNC13CENSG00000137766ENST00000260323p.S2205Fc.6614C>TSubstitution - Missense
IL17DENSG00000172458ENST00000304920p.L109Lc.327G>ASubstitution - coding silent
RYR3ENSG00000198838ENST00000389232p.A3238Ac.9714C>TSubstitution - coding silent
PLECENSG00000178209ENST00000322810p.T3413Tc.10239G>ASubstitution - coding silent
OSBPL6ENSG00000079156ENST00000392505p.R907Qc.2720G>ASubstitution - Missense
RASGRP3ENSG00000152689ENST00000403687p.L93Fc.277C>TSubstitution - Missense
SPRY1ENSG00000164056ENST00000339241p.F229Sc.686T>CSubstitution - Missense
ENST00000333535_v68p.S1925Sc.5775C>GSubstitution - coding silent
WDR52ENSG00000206530ENST00000393845p.T836Tc.2508A>GSubstitution - coding silent
MAMDC4ENSG00000177943ENST00000317446p.?c.2326+1G>AUnknown
DOPEY1ENSG00000083097ENST00000349129p.M332Ic.996G>TSubstitution - Missense
WDR55ENSG00000120314ENST00000358337p.A278Vc.833C>TSubstitution - Missense
FAM46AENSG00000112773ENST00000369756p.D228Dc.684C>TSubstitution - coding silent
GTF2H4ENSG00000213780ENST00000259895p.A152Ac.456C>TSubstitution - coding silent
PCSK4ENSG00000115257ENST00000300954p.F65Fc.195C>TSubstitution - coding silent
ENST00000327733p.A188Tc.562G>ASubstitution - Missense
FOLH1ENSG00000086205ENST00000256999p.S155Sc.465G>ASubstitution - coding silent
ASTN1ENSG00000152092ENST00000367654p.N616Nc.1848C>TSubstitution - coding silent
SEPT4ENSG00000108387ENST00000412945p.R98Hc.293G>ASubstitution - Missense
KCNE1ENSG00000180509ENST00000399284p.S37Sc.111C>TSubstitution - coding silent
HSPG2ENSG00000142798ENST00000374695p.G2814Cc.8440G>TSubstitution - Missense
CDHR1ENSG00000148600ENST00000332904p.R202Sc.606G>CSubstitution - Missense
PDE8AENSG00000073417ENST00000310298p.N296Nc.888C>TSubstitution - coding silent
ALPK3ENSG00000136383ENST00000258888p.S1597Cc.4790C>GSubstitution - Missense
AHCTF1ENSG00000153207ENST00000391829p.S1366Sc.4098A>CSubstitution - coding silent
LTA4HENSG00000111144ENST00000413268p.?c.567-7C>AUnknown
COX15ENSG00000014919ENST00000016171p.R222Cc.664C>TSubstitution - Missense
MAN1A2ENSG00000198162ENST00000356554p.H213Hc.639C>TSubstitution - coding silent
ATP12AENSG00000075673ENST00000381946p.T263Mc.788C>TSubstitution - Missense
CERKLENSG00000188452ENST00000410087p.Q376Pc.1127A>CSubstitution - Missense
COL3A1ENSG00000168542ENST00000304636p.G423Gc.1269T>CSubstitution - coding silent
ENO3ENSG00000108515ENST00000323997p.D53Ec.159C>ASubstitution - Missense
SMCR8ENSG00000176994ENST00000406438p.L697Lc.2091G>TSubstitution - coding silent
TAS2R38ENSG00000257138ENST00000547270p.E13*c.37G>TSubstitution - Nonsense
RAPH1ENSG00000173166ENST00000308091p.G609Ac.1826G>CSubstitution - Missense
PP2D1ENSG00000183977ENST00000389050p.L606Ic.1816T>ASubstitution - Missense
TPTEENSG00000166157ENST00000361285p.Y279Yc.837T>CSubstitution - coding silent
ENST00000414523p.P431Sc.1291C>TSubstitution - Missense
KIF27ENSG00000165115ENST00000297814p.K858Nc.2574A>CSubstitution - Missense
MATR3ENSG00000015479ENST00000394805p.L224Lc.670T>CSubstitution - coding silent
PKN1ENSG00000123143ENST00000342216p.?c.2234+9G>CUnknown
SEPT4ENSG00000108387ENST00000393086p.R87Hc.260G>ASubstitution - Missense
TTC31ENSG00000115282ENST00000442235p.C174fs*8c.519_520insCAGCATCInsertion - Frameshift
BCRENSG00000186716ENST00000398512p.P168Pc.504C>TSubstitution - coding silent
ANKRD36ENSG00000135976ENST00000461153p.D830Dc.2490C>TSubstitution - coding silent
BRWD3ENSG00000165288ENST00000373275p.G1118Ac.3353G>CSubstitution - Missense
RPS26ENSG00000197728ENST00000356464p.K32Kc.96G>ASubstitution - coding silent
SEC24CENSG00000176986ENST00000345254p.R823Cc.2467C>TSubstitution - Missense
DNAJC22ENSG00000178401ENST00000395069p.E259Ac.776A>CSubstitution - Missense
CHMLENSG00000203668ENST00000366553p.E444Ec.1332A>GSubstitution - coding silent
NALCNENSG00000102452ENST00000376196p.I224Nc.671T>ASubstitution - Missense
ZNF365ENSG00000138311ENST00000395254p.S305Sc.915C>TSubstitution - coding silent
NM_014448.2p.S314Lc.941C>TSubstitution - Missense
CHD4ENSG00000111642ENST00000357008p.?c.4515+6C>AUnknown
UNC13CENSG00000137766ENST00000260323p.S2205Fc.6614C>TSubstitution - Missense
AP4E1ENSG00000081014ENST00000261842p.I466Fc.1396A>TSubstitution - Missense
DNAJC11ENSG00000007923ENST00000377577p.T288Tc.864T>CSubstitution - coding silent
SEPT9ENSG00000184640ENST00000427180p.V40Vc.120G>ASubstitution - coding silent
GRHPRENSG00000137106ENST00000318158p.A89Pc.265G>CSubstitution - Missense
MOB4ENSG00000115540ENST00000323303p.L79Lc.237T>CSubstitution - coding silent
ZCCHC14ENSG00000140948ENST00000268616p.S243Sc.729C>TSubstitution - coding silent
ARHGAP24ENSG00000138639ENST00000264343p.?c.321-10G>TUnknown
TRIM7ENSG00000146054ENST00000393319p.V15Dc.44T>ASubstitution - Missense
SPHKAPENSG00000153820ENST00000392056p.K520Nc.1560A>TSubstitution - Missense
FAM161AENSG00000170264ENST00000404929p.K37Ec.109A>GSubstitution - Missense
MTMR8ENSG00000102043ENST00000374852p.A44Ac.132C>TSubstitution - coding silent
TFENSG00000091513ENST00000402696p.S174Lc.521C>TSubstitution - Missense
MLNENSG00000096395ENST00000430124p.K41Kc.123G>ASubstitution - coding silent
PROM1ENSG00000007062ENST00000447510p.N580Hc.1738A>CSubstitution - Missense
PLECENSG00000178209ENST00000354589p.F4072Fc.12216C>TSubstitution - coding silent
THEMISENSG00000172673ENST00000368248p.Y259Yc.777C>TSubstitution - coding silent
EGLN1ENSG00000135766ENST00000366641p.F40Fc.120C>TSubstitution - coding silent
CNTN4ENSG00000144619ENST00000418658p.G240Rc.718G>ASubstitution - Missense
LYPLAL1ENSG00000143353ENST00000366928p.R136Ic.407G>TSubstitution - Missense
SSH1ENSG00000084112ENST00000326495p.K383Kc.1149G>ASubstitution - coding silent
ARHGEF17ENSG00000110237ENST00000263674p.R1132Wc.3394C>TSubstitution - Missense
RNF31ENSG00000092098ENST00000324103p.N851Nc.2553C>TSubstitution - coding silent
DHX32ENSG00000089876ENST00000284690p.E155Kc.463G>ASubstitution - Missense
ARHGEF16ENSG00000130762ENST00000413250p.S306Lc.917C>TSubstitution - Missense
NBPF10ENSG00000163386ENST00000369338p.?c.989-4G>TUnknown
ENST00000268613_v61p.Q136Qc.408A>GSubstitution - coding silent
TMPRSS9ENSG00000178297ENST00000332578p.G568Gc.1704G>ASubstitution - coding silent
ZNF676ENSG00000196109ENST00000397121p.T325Pc.973A>CSubstitution - Missense
KRTAP1-3ENSG00000221880ENST00000344363p.F44Cc.131T>GSubstitution - Missense
DTHD1ENSG00000197057ENST00000357504p.S589fs*25c.1765delADeletion - Frameshift
ENST00000242365_v65p.A1681Pc.5041G>CSubstitution - Missense
MSR1ENSG00000038945ENST00000262101p.N171Dc.511A>GSubstitution - Missense
ENST00000570743p.E1477Ec.4431G>ASubstitution - coding silent
TPTEENSG00000166157ENST00000298232p.N387Nc.1161C>TSubstitution - coding silent
SCN5AENSG00000183873ENST00000333535p.S1925Sc.5775C>GSubstitution - coding silent
BUB1ENSG00000169679ENST00000302759p.H308Yc.922C>TSubstitution - Missense
SP100ENSG00000067066ENST00000264052p.S231Nc.692G>ASubstitution - Missense
SP100ENSG00000067066ENST00000341950p.S231Nc.692G>ASubstitution - Missense
SH3BP4ENSG00000130147ENST00000344528p.P363Pc.1089G>ASubstitution - coding silent
KIF15ENSG00000163808ENST00000326047p.R34Cc.100C>TSubstitution - Missense
PCDHB5ENSG00000113209ENST00000231134p.L154Lc.462A>GSubstitution - coding silent
DHX16ENSG00000204560ENST00000376442p.Q966delQc.2889_2891delACADeletion - In frame
GPR110ENSG00000153292ENST00000371253p.L793Lc.2379C>TSubstitution - coding silent
ATP12AENSG00000075673ENST00000218548p.T263Mc.788C>TSubstitution - Missense
RALGAPA1ENSG00000174373ENST00000258840p.H243Qc.729T>GSubstitution - Missense
SORL1ENSG00000137642ENST00000260197p.K1634Mc.4901A>TSubstitution - Missense
LTA4HENSG00000111144ENST00000228740p.?c.639-7C>AUnknown
DSCAML1ENSG00000177103ENST00000321322p.P108Pc.324G>ASubstitution - coding silent
BRI3BPENSG00000184992ENST00000341446p.L25_G26insLc.74_75insGCTInsertion - In frame
TTC7BENSG00000165914ENST00000328459p.L448Lc.1342T>CSubstitution - coding silent
ADCK1ENSG00000063761ENST00000341211p.I338Tc.1013T>CSubstitution - Missense
MRPL37ENSG00000116221ENST00000360840p.F406Fc.1218C>TSubstitution - coding silent
DLL4ENSG00000128917ENST00000249749p.?c.1943+2T>CUnknown
TLCD2ENSG00000185561ENST00000330676p.R155Rc.465C>ASubstitution - coding silent
TAF4BENSG00000141384ENST00000269142p.A246Pc.736G>CSubstitution - Missense
TTC31ENSG00000115282ENST00000233623p.L515fs*>8c.1543_1544insCAGCATCInsertion - Frameshift
ZIC4ENSG00000174963ENST00000383075p.A84Ac.252C>TSubstitution - coding silent
XM_051221.5p.K520Nc.1560A>TSubstitution - Missense
CTDSP1ENSG00000144579ENST00000273062p.?c.216+5G>AUnknown
SMC1BENSG00000077935ENST00000357450p.?c.2709-8A>CUnknown
ZNF682ENSG00000197124ENST00000397165p.R473fs*11c.1419_1420delAGDeletion - Frameshift
ENST00000438835p.L77Lc.229C>TSubstitution - coding silent
ALAS2ENSG00000158578ENST00000330807p.T354Tc.1062C>GSubstitution - coding silent
COL14A1ENSG00000187955ENST00000297848p.L653Lc.1959A>GSubstitution - coding silent
ATP9BENSG00000166377ENST00000307671p.V667Mc.1999G>ASubstitution - Missense
COILENSG00000121058ENST00000240316p.L521Wc.1562T>GSubstitution - Missense
SLC35A4ENSG00000176087ENST00000323146p.A152Ac.456G>ASubstitution - coding silent
ENST00000316490_v65p.R2539Qc.7616G>ASubstitution - Missense
UTS2BENSG00000188958ENST00000340524p.R47Lc.140G>TSubstitution - Missense
XIRP2ENSG00000163092ENST00000295237p.E333Qc.997G>CSubstitution - Missense
ASXL1ENSG00000171456ENST00000306058p.E912Ec.2736A>GSubstitution - coding silent
MUC5BENSG00000117983ENST00000529681p.V3237Fc.9709G>TSubstitution - Missense
ENST00000356370_v68p.?c.341-5G>CUnknown
EML5ENSG00000165521ENST00000554922p.R407Kc.1220G>ASubstitution - Missense
GRIA3ENSG00000125675ENST00000264357p.Y243Fc.728A>TSubstitution - Missense
KRTAP9-4ENSG00000241595ENST00000334109p.C62_Q63insRTTCCc.176_177ins15Insertion - In frame
SLC25A25ENSG00000148339ENST00000432073p.R104Kc.311G>ASubstitution - Missense
SLC25A25ENSG00000148339ENST00000373064p.R84Kc.251G>ASubstitution - Missense
SNX33ENSG00000173548ENST00000308527p.F493Fc.1479C>TSubstitution - coding silent
CCDC168ENSG00000175820ENST00000322527p.E2114*c.6340G>TSubstitution - Nonsense
ZFHX2ENSG00000136367ENST00000419474p.V1638Vc.4914G>CSubstitution - coding silent
ENST00000450802_v68p.I357Lc.1069A>CSubstitution - Missense
IGSF3ENSG00000143061ENST00000369486p.V469Mc.1405G>ASubstitution - Missense
ARHGAP42ENSG00000165895ENST00000298815p.Y60Cc.179A>GSubstitution - Missense
PHB2ENSG00000215021ENST00000535923p.I79Vc.235A>GSubstitution - Missense
AKAP6ENSG00000151320ENST00000280979p.Q1955Pc.5864A>CSubstitution - Missense
UNC79ENSG00000133958ENST00000553484p.?c.5900-10T>CUnknown
WDR59ENSG00000103091ENST00000262144p.R315Wc.943C>TSubstitution - Missense
XYLT2ENSG00000015532ENST00000017003p.R720Wc.2158C>TSubstitution - Missense
NPC1ENSG00000141458ENST00000269228p.R296Wc.886C>TSubstitution - Missense
WDR27ENSG00000184465ENST00000333572p.?c.1482-6C>TUnknown
MYH13ENSG00000006788ENST00000252172p.E1477Ec.4431G>ASubstitution - coding silent
NAA15ENSG00000164134ENST00000296543p.E563Kc.1687G>ASubstitution - Missense
SP100ENSG00000067066ENST00000340126p.S231Nc.692G>ASubstitution - Missense
MCM9ENSG00000111877ENST00000316068p.V12Mc.34G>ASubstitution - Missense
DLC1ENSG00000164741ENST00000276297p.C1280Cc.3840C>TSubstitution - coding silent
WWC2ENSG00000151718ENST00000448232p.E882_S883insEc.2629_2630insAAGInsertion - In frame
ITGA6ENSG00000091409ENST00000264106p.Q1118fs*10c.3351_3352insAInsertion - Frameshift
PKD2L2ENSG00000078795ENST00000508883p.L523Lc.1569C>TSubstitution - coding silent
ABLIM2ENSG00000163995ENST00000296372p.R82Cc.244C>TSubstitution - Missense
ZSWIM8ENSG00000214655ENST00000398706p.K395Kc.1185A>GSubstitution - coding silent
MTA1ENSG00000182979ENST00000331320p.A382Vc.1145C>TSubstitution - Missense
SPTBN5ENSG00000137877ENST00000320955p.E1008Qc.3022G>CSubstitution - Missense
ZNF365ENSG00000138311ENST00000410046p.S305Sc.915C>TSubstitution - coding silent
MACF1ENSG00000127603ENST00000360115p.I632Tc.1895T>CSubstitution - Missense
EP400ENSG00000183495ENST00000389561p.P155Sc.463C>TSubstitution - Missense
AKAP6ENSG00000151320ENST00000280979p.P2138Pc.6414A>GSubstitution - coding silent
CSTL1ENSG00000125823ENST00000246020p.?c.220-2A>GUnknown
ZNF804AENSG00000170396ENST00000302277p.E906Ec.2718A>GSubstitution - coding silent
ZDBF2ENSG00000204186ENST00000374423p.G2099Gc.6297A>TSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.K14483Rc.43448A>GSubstitution - Missense
PODXLENSG00000128567ENST00000378555p.P189Pc.567C>GSubstitution - coding silent
CELF4ENSG00000101489ENST00000361795p.A260Ac.780C>TSubstitution - coding silent
PCDH7ENSG00000169851ENST00000361762p.S949Sc.2847C>TSubstitution - coding silent
CCDC158ENSG00000163749ENST00000388914p.R362Qc.1085G>ASubstitution - Missense
ENST00000361585p.D241Yc.721G>TSubstitution - Missense
PLECENSG00000178209ENST00000345136p.T3276Tc.9828G>ASubstitution - coding silent
ENST00000287624p.L57Lc.171G>ASubstitution - coding silent
CCDC135ENSG00000159625ENST00000360716p.R33Kc.98G>ASubstitution - Missense
ENST00000426736p.R601Wc.1801C>TSubstitution - Missense
PSD4ENSG00000125637ENST00000245796p.G197Rc.589G>ASubstitution - Missense
LRCH4ENSG00000077454ENST00000310300p.G349Rc.1045G>ASubstitution - Missense
ZNF284ENSG00000186026ENST00000421176p.G545Ec.1634G>ASubstitution - Missense
ZFHX4ENSG00000091656ENST00000050961p.D3367Dc.10101C>TSubstitution - coding silent
GPR98ENSG00000164199ENST00000405460p.G3696Ec.11087G>ASubstitution - Missense
PIK3CBENSG00000051382ENST00000477593p.R321Qc.962G>ASubstitution - Missense
LRP1ENSG00000123384ENST00000243077p.G1190Dc.3569G>ASubstitution - Missense
NTMENSG00000182667ENST00000539799p.S33Sc.99C>TSubstitution - coding silent
YBX1ENSG00000065978ENST00000321358p.P250Lc.749C>TSubstitution - Missense
DNAH10ENSG00000197653ENST00000409039p.G659Vc.1976G>TSubstitution - Missense
ANKRD27ENSG00000105186ENST00000306065p.?c.585+1G>AUnknown
ENST00000318252p.D2854Yc.8560G>TSubstitution - Missense
MAGI1ENSG00000151276ENST00000402939p.E1344Kc.4030G>ASubstitution - Missense
RNF144BENSG00000137393ENST00000259939p.C206Cc.618C>TSubstitution - coding silent
KRT20ENSG00000171431ENST00000167588p.T52Tc.156G>TSubstitution - coding silent
LRRFIP1ENSG00000124831ENST00000244815p.T735Tc.2205C>TSubstitution - coding silent
MAPK12ENSG00000188130ENST00000215659p.L77Lc.229C>TSubstitution - coding silent
ENST00000575751_v68p.P210Rc.629C>GSubstitution - Missense
HIST1H2AMENSG00000233224ENST00000359611p.T17Tc.51C>TSubstitution - coding silent
SLC13A3ENSG00000158296ENST00000339636p.K115Nc.345G>CSubstitution - Missense
WDR16ENSG00000166596ENST00000299764p.T235Mc.704C>TSubstitution - Missense
TSHZ1ENSG00000179981ENST00000580243p.E616Qc.1846G>CSubstitution - Missense
ZNF407ENSG00000215421ENST00000577538p.G1580Gc.4740A>CSubstitution - coding silent
DCCENSG00000187323ENST00000412726p.F313Lc.939T>ASubstitution - Missense
ATP13A1ENSG00000105726ENST00000291503p.E977Ec.2931G>ASubstitution - coding silent
SLC13A3ENSG00000158296ENST00000372121p.K115Nc.345G>CSubstitution - Missense
POLR1BENSG00000125630ENST00000541869p.G51Ec.152G>ASubstitution - Missense
COL3A1ENSG00000168542ENST00000317840p.G423Gc.1269T>CSubstitution - coding silent
ENST00000264718_v70p.A20Ac.60T>GSubstitution - coding silent
PROM1ENSG00000007062ENST00000543373p.N571Hc.1711A>CSubstitution - Missense
TNFRSF13BENSG00000240505ENST00000437538p.D145fs*46c.433_434insAInsertion - Frameshift
DHX16ENSG00000204560ENST00000376437p.Q485delQc.1446_1448delACADeletion - In frame
ENST00000338970_v70p.A156_A159delAAAAc.446_457del12Deletion - In frame
ABLIM2ENSG00000163995ENST00000361737p.R82Cc.244C>TSubstitution - Missense
UNC5AENSG00000113763ENST00000261961p.?c.1749+10G>AUnknown
MCTP1ENSG00000175471ENST00000312216p.T614Sc.1840A>TSubstitution - Missense
DOPEY1ENSG00000083097ENST00000237163p.M323Ic.969G>TSubstitution - Missense
PODXLENSG00000128567ENST00000537928p.P189Pc.567C>GSubstitution - coding silent
ENST00000257665_v70p.A1028Tc.3082G>ASubstitution - Missense
MTUS1ENSG00000129422ENST00000400046p.V65Ic.193G>ASubstitution - Missense
PLECENSG00000178209ENST00000356346p.T3262Tc.9786G>ASubstitution - coding silent
PLECENSG00000178209ENST00000356346p.F4058Fc.12174C>TSubstitution - coding silent
NUP214ENSG00000126883ENST00000451030p.V1639Ic.4915G>ASubstitution - Missense
KDM4CENSG00000107077ENST00000420847p.S257Cc.770C>GSubstitution - Missense
KIF27ENSG00000165115ENST00000376347p.K249Nc.747A>CSubstitution - Missense
NR0B1ENSG00000169297ENST00000453287p.R51Kc.152G>ASubstitution - Missense
HTR3EENSG00000186038ENST00000335304p.G324Sc.970G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.T5622Tc.16866G>ASubstitution - coding silent
TTC18ENSG00000156042ENST00000355577p.T186Ac.556A>GSubstitution - Missense
TTF2ENSG00000116830ENST00000369466p.P1045Lc.3134C>TSubstitution - Missense
USP2ENSG00000036672ENST00000260187p.T327Nc.980C>ASubstitution - Missense
ENST00000339192p.G477Vc.1430G>TSubstitution - Missense
PTCH1ENSG00000185920ENST00000375274p.P1210Pc.3630C>TSubstitution - coding silent
MAPK7ENSG00000166484ENST00000308406p.L167Lc.501G>ASubstitution - coding silent
KRTAP4-9ENSG00000212722ENST00000391415p.V86Vc.258G>ASubstitution - coding silent
GAS7ENSG00000007237ENST00000432992p.L32Lc.96G>TSubstitution - coding silent
RPL14ENSG00000188846ENST00000396203p.A156_A159delAAAAc.446_457del12Deletion - In frame
MTMR8ENSG00000102043ENST00000453546p.A44Ac.132C>TSubstitution - coding silent
PSMC3IPENSG00000131470ENST00000253789p.?c.562-4A>TUnknown
EML4ENSG00000143924ENST00000318522p.P341Pc.1023C>GSubstitution - coding silent
MAN2B2ENSG00000013288ENST00000285599p.W194*c.581G>ASubstitution - Nonsense
CIZ1ENSG00000148337ENST00000372938p.L716Qc.2147T>ASubstitution - Missense
USH2AENSG00000042781ENST00000366943p.?c.3811+10C>AUnknown
SEZ6ENSG00000063015ENST00000360295p.G687Rc.2059G>ASubstitution - Missense
NOL6ENSG00000165271ENST00000379471p.A506Ac.1518T>CSubstitution - coding silent
MAPK15ENSG00000181085ENST00000395107p.G231Ec.692G>ASubstitution - Missense
NFRKBENSG00000170322ENST00000524794p.P848Pc.2544G>ASubstitution - coding silent
FOXRED1ENSG00000110074ENST00000263578p.?c.631+8T>AUnknown
KAT6BENSG00000156650ENST00000287239p.R1797_M1798delRMc.5388_5393delGCGAATDeletion - In frame
FOXJ2ENSG00000065970ENST00000162391p.?c.817+5G>TUnknown
UNC5BENSG00000107731ENST00000335350p.S361Sc.1083C>TSubstitution - coding silent
ZC3H12CENSG00000149289ENST00000278590p.V11Lc.31G>TSubstitution - Missense
KARSENSG00000065427ENST00000302445p.F387Fc.1161C>TSubstitution - coding silent
C13orf35ENSG00000197595ENST00000356049p.I99Ic.297A>CSubstitution - coding silent
TNFRSF13BENSG00000240505ENST00000261652p.D191fs*46c.571_572insAInsertion - Frameshift
OSBPL6ENSG00000079156ENST00000190611p.R882Qc.2645G>ASubstitution - Missense
SLC9A3R1ENSG00000109062ENST00000262613p.G222Gc.666C>TSubstitution - coding silent
ABLIM2ENSG00000163995ENST00000447017p.R82Cc.244C>TSubstitution - Missense
KALRNENSG00000160145ENST00000291478p.P558Tc.1672C>ASubstitution - Missense
ZC3H4ENSG00000130749ENST00000253048p.?c.968-9C>TUnknown
ZNF407ENSG00000215421ENST00000582337p.G1580Gc.4740A>CSubstitution - coding silent
ENST00000432934p.G359Sc.1075G>ASubstitution - Missense
NR3C1ENSG00000113580ENST00000231509p.R366fs*8c.1095_1096insAInsertion - Frameshift
PHACTR1ENSG00000112137ENST00000379348p.K154Kc.462G>ASubstitution - coding silent
PDGFRBENSG00000113721ENST00000261799p.D706Nc.2116G>ASubstitution - Missense
FAM69BENSG00000165716ENST00000371692p.V46Mc.136G>ASubstitution - Missense
SNAPC4ENSG00000165684ENST00000298532p.R1290Qc.3869G>ASubstitution - Missense
SNAPC4ENSG00000165684ENST00000298532p.K856Nc.2568G>CSubstitution - Missense
PRUNE2ENSG00000106772ENST00000376718p.N250Kc.750C>GSubstitution - Missense
MAMDC4ENSG00000177943ENST00000445819p.?c.2563+1G>AUnknown
HECW1ENSG00000002746ENST00000395891p.N371Nc.1113C>TSubstitution - coding silent
MTM1ENSG00000171100ENST00000370396p.V170Lc.508G>CSubstitution - Missense
PKD2L2ENSG00000078795ENST00000290431p.L523Lc.1569C>TSubstitution - coding silent
PCDHA4ENSG00000204967ENST00000530339p.I631Ic.1893C>ASubstitution - coding silent
PCDHA4ENSG00000204967ENST00000356878p.I631Ic.1893C>ASubstitution - coding silent
PCDHGA3ENSG00000254245ENST00000253812p.Q429Qc.1287A>GSubstitution - coding silent
PCDHB12ENSG00000120328ENST00000239450p.L15Pc.44T>CSubstitution - Missense
ATP10BENSG00000118322ENST00000327245p.?c.3364-4G>AUnknown
GTF2H4ENSG00000213780ENST00000259895p.A152Ac.456C>TSubstitution - coding silent
ENST00000539307p.A33Sc.97G>TSubstitution - Missense
C7orf33ENSG00000170279ENST00000307003p.K69Ec.205A>GSubstitution - Missense
NPC1L1ENSG00000015520ENST00000289547p.Q1131Hc.3393G>CSubstitution - Missense
AGAP3ENSG00000133612ENST00000397238p.S909Nc.2726G>ASubstitution - Missense
ENST00000450194p.A745Ac.2235G>ASubstitution - coding silent
ABCA13ENSG00000179869ENST00000435803p.Q3253*c.9757C>TSubstitution - Nonsense
ENST00000319379p.Q3198*c.9592C>TSubstitution - Nonsense
SLC29A4ENSG00000164638ENST00000297195p.D65Dc.195C>TSubstitution - coding silent
SNX31ENSG00000174226ENST00000311812p.?c.322-9T>GUnknown
ENST00000316490p.R2491Qc.7472G>ASubstitution - Missense
ENST00000309900p.N446Sc.1337A>GSubstitution - Missense
ENST00000316490p.N2840Sc.8519A>GSubstitution - Missense
PKN1ENSG00000123143ENST00000242783p.?c.2216+9G>CUnknown
RFX1ENSG00000132005ENST00000254325p.L722Lc.2166C>GSubstitution - coding silent
ANO8ENSG00000074855ENST00000159087p.S968Pc.2902T>CSubstitution - Missense
SLC13A3ENSG00000158296ENST00000279027p.K115Nc.345G>CSubstitution - Missense
AGMOENSG00000187546ENST00000342526p.R396Cc.1186C>TSubstitution - Missense
MAN2B2ENSG00000013288ENST00000285599p.A465Vc.1394C>TSubstitution - Missense
WDR60ENSG00000126870ENST00000407559p.K289Nc.867A>TSubstitution - Missense
BCRENSG00000186716ENST00000305877p.P168Pc.504C>TSubstitution - coding silent
ITGB6ENSG00000115221ENST00000283249p.A245Ac.735A>GSubstitution - coding silent
XIRP2ENSG00000163092ENST00000409728p.E366Qc.1096G>CSubstitution - Missense
RBM18ENSG00000119446ENST00000417201p.A163Vc.488C>TSubstitution - Missense
SLC25A25ENSG00000148339ENST00000373068p.R118Kc.353G>ASubstitution - Missense
NUP214ENSG00000126883ENST00000359428p.V1638Ic.4912G>ASubstitution - Missense
QRFPENSG00000188710ENST00000343079p.R136Wc.406C>TSubstitution - Missense
ATP13A5ENSG00000187527ENST00000342358p.I989Fc.2965A>TSubstitution - Missense
WWC2ENSG00000151718ENST00000403733p.E882_S883insEc.2629_2630insAAGInsertion - In frame
NM_018248.1p.G523Ec.1568G>ASubstitution - Missense
FAM153BENSG00000182230ENST00000253490p.H179Qc.537T>ASubstitution - Missense
UNC5AENSG00000113763ENST00000329542p.?c.1869+10G>AUnknown
ITGA1ENSG00000213949ENST00000282588p.Q906Qc.2718G>ASubstitution - coding silent
IL6STENSG00000134352ENST00000381298p.Y554Fc.1661A>TSubstitution - Missense
C4AENSG00000244731ENST00000428956p.A891Ac.2673G>ASubstitution - coding silent
C4AENSG00000244731ENST00000428956p.A891Ac.2673G>ASubstitution - coding silent
C2ENSG00000166278ENST00000299367p.F95Vc.283T>GSubstitution - Missense
OSBPL6ENSG00000079156ENST00000315022p.R886Qc.2657G>ASubstitution - Missense
NTMENSG00000182667ENST00000427481p.S24Sc.72C>TSubstitution - coding silent
NM_032681.1p.A29Tc.85G>ASubstitution - Missense
ATF7IPENSG00000171681ENST00000543189p.A863Tc.2587G>ASubstitution - Missense
EP400ENSG00000183495ENST00000333577p.P155Sc.463C>TSubstitution - Missense
FOXJ2ENSG00000065970ENST00000428177p.?c.817+5G>TUnknown
AGLENSG00000162688ENST00000361522p.G1206Dc.3617G>ASubstitution - Missense
USH2AENSG00000042781ENST00000366942p.?c.3811+10C>AUnknown
USH2AENSG00000042781ENST00000366943p.S3947Fc.11840C>TSubstitution - Missense
PIK3CDENSG00000171608ENST00000536656p.N299Kc.897C>ASubstitution - Missense
GOLGA8HENSG00000261794ENST00000566740p.?c.786+10C>GUnknown
TTC7BENSG00000165914ENST00000357056p.L448Lc.1342T>CSubstitution - coding silent
UNC13CENSG00000137766ENST00000545554p.S2205Fc.6614C>TSubstitution - Missense
PLSCR2ENSG00000163746ENST00000497985p.Y21Hc.61T>CSubstitution - Missense
LRRTM1ENSG00000162951ENST00000417012p.P454Pc.1362A>GSubstitution - coding silent
LRRTM1ENSG00000162951ENST00000295057p.P454Pc.1362A>GSubstitution - coding silent
LRRTM1ENSG00000162951ENST00000417012p.P454Qc.1361C>ASubstitution - Missense
ENST00000357591p.A161Vc.482C>TSubstitution - Missense
MAML1ENSG00000161021ENST00000292599p.P771Qc.2312C>ASubstitution - Missense
TRIM7ENSG00000146054ENST00000393319p.V15Ic.43G>ASubstitution - Missense
TRIM7ENSG00000146054ENST00000393319p.Q14Hc.42A>TSubstitution - Missense
IL22RA2ENSG00000164485ENST00000296980p.R204*c.610C>TSubstitution - Nonsense
IL20RAENSG00000016402ENST00000316649p.P471Tc.1411C>ASubstitution - Missense
ZBTB2ENSG00000181472ENST00000325144p.Q199Kc.595C>ASubstitution - Missense
IQCEENSG00000106012ENST00000402050p.A665Ac.1995C>GSubstitution - coding silent
PORENSG00000127948ENST00000461988p.?c.1248+5_1248+13delgccccctcaUnknown
TAB3ENSG00000157625ENST00000378933p.Q417Qc.1251A>GSubstitution - coding silent
MYO7BENSG00000169994ENST00000428314p.T115Pc.343A>CSubstitution - Missense
ENST00000272666p.T115Pc.343A>CSubstitution - Missense
STK11IPENSG00000144589ENST00000295641p.R636Wc.1906C>TSubstitution - Missense
STK11IPENSG00000144589ENST00000295641p.R636Wc.1906C>TSubstitution - Missense
COL6A3ENSG00000163359ENST00000295550p.P1942Pc.5826G>ASubstitution - coding silent
RAMP1ENSG00000132329ENST00000254661p.T62Sc.185C>GSubstitution - Missense
LRRFIP1ENSG00000124831ENST00000392000p.T759Tc.2277C>TSubstitution - coding silent
FAM161AENSG00000170264ENST00000405894p.K37Ec.109A>GSubstitution - Missense
KALRNENSG00000160145ENST00000360013p.P2255Tc.6763C>ASubstitution - Missense
ZBED4ENSG00000100426ENST00000216268p.M137Ic.411G>TSubstitution - Missense
LMF2ENSG00000100258ENST00000216080p.S426Sc.1278C>TSubstitution - coding silent
LMF2ENSG00000100258ENST00000216080p.R74Cc.220C>TSubstitution - Missense
PLXNB1ENSG00000164050ENST00000296440p.G899Rc.2695G>ASubstitution - Missense
BYSLENSG00000112578ENST00000230340p.E296Ec.888G>ASubstitution - coding silent
SAPCD2ENSG00000186193ENST00000409687p.?c.1057-3C>TUnknown
PNPLA7ENSG00000130653ENST00000277531p.V307Ac.920T>CSubstitution - Missense
FAAH2ENSG00000165591ENST00000374900p.N195Kc.585C>ASubstitution - Missense
NM_000032.1p.T354Tc.1062C>GSubstitution - coding silent
ATP13A1ENSG00000105726ENST00000357324p.E1095Ec.3285G>ASubstitution - coding silent
ZNF114ENSG00000178150ENST00000315849p.S261*c.782C>GSubstitution - Nonsense
EHD2ENSG00000024422ENST00000263277p.G412Rc.1234G>CSubstitution - Missense
CYP4F31PENSG00000178206ENST00000416266p.T69Ac.205A>GSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.Q4488Qc.13464G>ASubstitution - coding silent
FAT1ENSG00000083857ENST00000441802p.N3444Sc.10331A>GSubstitution - Missense
FAT1ENSG00000083857ENST00000441802p.N3444Sc.10331A>GSubstitution - Missense
TAS2R1ENSG00000169777ENST00000382492p.P43Pc.129G>ASubstitution - coding silent
SPATA9ENSG00000145757ENST00000274432p.S215Sc.645A>GSubstitution - coding silent
SEMA5AENSG00000112902ENST00000382496p.D571Nc.1711G>ASubstitution - Missense
ZNF407ENSG00000215421ENST00000299687p.G1580Gc.4740A>CSubstitution - coding silent
CTDP1ENSG00000060069ENST00000299543p.R179Qc.536G>ASubstitution - Missense
TSHZ1ENSG00000179981ENST00000322038p.E571Qc.1711G>CSubstitution - Missense
EP300ENSG00000100393ENST00000263253p.Q1797Rc.5390A>GSubstitution - Missense
GPRC6AENSG00000173612ENST00000310357p.L602Lc.1806A>CSubstitution - coding silent
EBAG9ENSG00000147654ENST00000395785p.?c.522-1G>AUnknown
ATAD2ENSG00000156802ENST00000287394p.V1340Ac.4019T>CSubstitution - Missense
THEMISENSG00000172673ENST00000543064p.Y259Yc.777C>TSubstitution - coding silent
FAM46AENSG00000112773ENST00000320172p.D147Dc.441C>TSubstitution - coding silent
OR1D5ENSG00000262628ENST00000575751p.P210Rc.629C>GSubstitution - Missense
RAD51DENSG00000185379ENST00000394589p.R100Qc.299G>ASubstitution - Missense
PSMC3IPENSG00000131470ENST00000393795p.?c.598-4A>TUnknown
DHX8ENSG00000067596ENST00000262415p.?c.1729-4T>CUnknown
CA10ENSG00000154975ENST00000340813p.S8Sc.24A>GSubstitution - coding silent
SEPT4ENSG00000108387ENST00000317268p.R106Hc.317G>ASubstitution - Missense
SEPT4ENSG00000108387ENST00000426861p.R87Hc.260G>ASubstitution - Missense
ZNF567ENSG00000189042ENST00000360729p.G284Ac.851G>CSubstitution - Missense
LRRC34ENSG00000171757ENST00000316515p.L269Fc.807G>TSubstitution - Missense
NR3C1ENSG00000113580ENST00000231509p.R478Gc.1432C>GSubstitution - Missense
NR3C1ENSG00000113580ENST00000415690p.R477Gc.1429C>GSubstitution - Missense
NR3C1ENSG00000113580ENST00000415690p.R366fs*8c.1095_1096insAInsertion - Frameshift
TRIOENSG00000038382ENST00000344204p.G1484Gc.4452A>CSubstitution - coding silent
TIAM1ENSG00000156299ENST00000286827p.T158Ac.472A>GSubstitution - Missense
DTHD1ENSG00000197057ENST00000456874p.S754fs*25c.2260delADeletion - Frameshift
NIPAL1ENSG00000163293ENST00000295461p.T340Nc.1019C>ASubstitution - Missense
C6orf120ENSG00000185127ENST00000332290p.H61Nc.181C>ASubstitution - Missense
C6orf120ENSG00000185127ENST00000439249p.H80Nc.238C>ASubstitution - Missense
ENST00000540262p.?c.875-5T>GUnknown
PTNENSG00000105894ENST00000348225p.R11Qc.32G>ASubstitution - Missense
KIAA1549ENSG00000122778ENST00000422774p.A1731Pc.5191G>CSubstitution - Missense
SVOPLENSG00000157703ENST00000288513p.R114Kc.341G>ASubstitution - Missense
SVOPLENSG00000157703ENST00000419765p.R266delRc.796_798delAGADeletion - In frame
SVOPLENSG00000157703ENST00000288513p.R114delRc.340_342delAGADeletion - In frame
TRRAPENSG00000196367ENST00000355540p.L2112Lc.6334C>TSubstitution - coding silent
TRRAPENSG00000196367ENST00000355540p.?c.366+10G>AUnknown
TRRAPENSG00000196367ENST00000359863p.?c.366+10G>AUnknown
PLECENSG00000178209ENST00000436759p.T3303Tc.9909G>ASubstitution - coding silent
PLECENSG00000178209ENST00000354958p.T3254Tc.9762G>ASubstitution - coding silent
PLECENSG00000178209ENST00000322810p.F4209Fc.12627C>TSubstitution - coding silent
PLECENSG00000178209ENST00000436759p.F4099Fc.12297C>TSubstitution - coding silent
PLECENSG00000178209ENST00000345136p.F4072Fc.12216C>TSubstitution - coding silent
MSR1ENSG00000038945ENST00000381998p.N171Dc.511A>GSubstitution - Missense
ZNF517ENSG00000197363ENST00000359971p.H199fs*32c.581_582ins14Insertion - Frameshift
MTUS1ENSG00000129422ENST00000381861p.V240Ic.718G>ASubstitution - Missense
MTUS1ENSG00000129422ENST00000297488p.V159Ic.475G>ASubstitution - Missense
NCOA2ENSG00000140396ENST00000452400p.Q1003Rc.3008A>GSubstitution - Missense
RAB27BENSG00000041353ENST00000262094p.G57Rc.169G>ASubstitution - Missense
MBD2ENSG00000134046ENST00000256429p.L329Fc.987G>TSubstitution - Missense
PIGNENSG00000197563ENST00000357637p.P926Tc.2776C>ASubstitution - Missense
WDR16ENSG00000166596ENST00000352665p.T225Mc.674C>TSubstitution - Missense
ESCO1ENSG00000141446ENST00000269214p.S265Sc.795G>ASubstitution - coding silent
SUV420H2ENSG00000133247ENST00000255613p.G105Gc.315C>TSubstitution - coding silent
ASXL1ENSG00000171456ENST00000375687p.E917Ec.2751A>GSubstitution - coding silent
BCL2L1ENSG00000171552ENST00000376062p.V127Vc.381G>TSubstitution - coding silent
ITGA6ENSG00000091409ENST00000409080p.Q1079fs*10c.3234_3235insAInsertion - Frameshift
C2orf53ENSG00000186143ENST00000335524p.R107Hc.320G>ASubstitution - Missense
ADCY9ENSG00000162104ENST00000294016p.R972Wc.2914C>TSubstitution - Missense
MYH4ENSG00000264424ENST00000255381p.?c.349-10T>CUnknown
ZNF841ENSG00000197608ENST00000389534p.V88Mc.262G>ASubstitution - Missense
ZNF841ENSG00000197608ENST00000389534p.V88Mc.262G>ASubstitution - Missense
CHRNA4ENSG00000101204ENST00000370263p.L138Lc.414G>ASubstitution - coding silent
TPTEENSG00000166157ENST00000298232p.Y261Yc.783T>CSubstitution - coding silent
TPTEENSG00000166157ENST00000361285p.N405Nc.1215C>TSubstitution - coding silent
CCDC157ENSG00000187860ENST00000405659p.P639Tc.1915C>ASubstitution - Missense
GPN1ENSG00000198522ENST00000264718p.A6Ac.18T>GSubstitution - coding silent
GCKRENSG00000084734ENST00000264717p.I249Ic.747C>TSubstitution - coding silent
PP2D1ENSG00000183977ENST00000389050p.A608Sc.1822G>TSubstitution - Missense
FGFRL1ENSG00000127418ENST00000398484p.H450Rc.1349A>GSubstitution - Missense
ENST00000542622p.H420Rc.1259A>GSubstitution - Missense
RNF212ENSG00000178222ENST00000382968p.K134Qc.400A>CSubstitution - Missense
RNF212ENSG00000178222ENST00000433731p.K134Qc.400A>CSubstitution - Missense
SH3TC1ENSG00000125089ENST00000245105p.R98Qc.293G>ASubstitution - Missense
PTPN13ENSG00000163629ENST00000436978p.G2111Cc.6331G>TSubstitution - Missense
RAB11FIP1ENSG00000156675ENST00000330843p.G700Rc.2098G>CSubstitution - Missense
TM2D2ENSG00000169490ENST00000456397p.T39Tc.117C>TSubstitution - coding silent
GINS4ENSG00000147536ENST00000276533p.V171Mc.511G>ASubstitution - Missense
PRRG1ENSG00000130962ENST00000378628p.P134Lc.401C>TSubstitution - Missense
RBM10ENSG00000182872ENST00000377604p.N392Sc.1175A>GSubstitution - Missense
ZSCAN5BENSG00000197213ENST00000358992p.?c.740-4C>GUnknown
ZIM3ENSG00000141946ENST00000269834p.R181Lc.542G>TSubstitution - Missense
ZNF667ENSG00000198046ENST00000342634p.A7Tc.19G>ASubstitution - Missense
ZSCAN5CENSG00000204532ENST00000534327p.G362Sc.1084G>ASubstitution - Missense
ABCA5ENSG00000154265ENST00000392676p.F1583Vc.4747T>GSubstitution - Missense
PDCL3ENSG00000115539ENST00000264254p.?c.5_7-3del3429Unknown
ANKRD53ENSG00000144031ENST00000272421p.?c.618-3_618delcagTUnknown
ZIC4ENSG00000174963ENST00000525172p.A134Ac.402C>TSubstitution - coding silent
ADCK1ENSG00000063761ENST00000238561p.I406Tc.1217T>CSubstitution - Missense
UNC79ENSG00000133958ENST00000256339p.?c.5303-10T>CUnknown
GPR157ENSG00000180758ENST00000377411p.S150Sc.450G>ASubstitution - coding silent
DIO3ENSG00000197406ENST00000359323p.V115Ac.344T>CSubstitution - Missense
PIK3CDENSG00000171608ENST00000377346p.N334Kc.1002C>ASubstitution - Missense
PCID2ENSG00000126226ENST00000246505p.S259Rc.775A>CSubstitution - Missense
INO80ENSG00000128908ENST00000361937p.S1489Sc.4467C>TSubstitution - coding silent
INO80ENSG00000128908ENST00000361937p.S1489Sc.4467C>TSubstitution - coding silent
CDH13ENSG00000140945ENST00000431540p.Q136Qc.408A>GSubstitution - coding silent
CRHR1ENSG00000120088ENST00000314537p.A60Ac.180G>ASubstitution - coding silent
SEC23BENSG00000101310ENST00000377465p.I708Vc.2122A>GSubstitution - Missense
TTNENSG00000155657ENST00000360870p.T4521Ac.13561A>GSubstitution - Missense
ZDBF2ENSG00000204186ENST00000374423p.G2099Gc.6297A>TSubstitution - coding silent
PIKFYVEENSG00000115020ENST00000264380p.D1275Dc.3825T>CSubstitution - coding silent
AIFM1ENSG00000156709ENST00000287295p.R569Rc.1707G>ASubstitution - coding silent
AIFM1ENSG00000156709ENST00000319908p.R565Rc.1695G>ASubstitution - coding silent
THOC2ENSG00000125676ENST00000245838p.E1480Ec.4440G>ASubstitution - coding silent
OTTHUMT00000058153.1p.E1401Ec.4203G>ASubstitution - coding silent
PTCH1ENSG00000185920ENST00000375274p.P1210Pc.3630C>TSubstitution - coding silent
CRKENSG00000167193ENST00000300574p.H32Rc.95A>GSubstitution - Missense
TRIM16ENSG00000221926ENST00000578237p.R271Tc.812G>CSubstitution - Missense
CCDC144AENSG00000170160ENST00000456009p.T863Tc.2589G>ASubstitution - coding silent
PRR12ENSG00000126464ENST00000418929p.?c.5624-10C>TUnknown
ENST00000246798p.?c.3164-10C>TUnknown
ENST00000246798p.P74Hc.221C>ASubstitution - Missense
LILRB1ENSG00000104972ENST00000396331p.A392Vc.1175C>TSubstitution - Missense
PARD6BENSG00000124171ENST00000371610p.E365Kc.1093G>ASubstitution - Missense
FAM65CENSG00000042062ENST00000327979p.I677Tc.2030T>CSubstitution - Missense
KCNB1ENSG00000158445ENST00000371741p.I463Tc.1388T>CSubstitution - Missense
PTPRZ1ENSG00000106278ENST00000393386p.V2149Vc.6447C>TSubstitution - coding silent
PTPRZ1ENSG00000106278ENST00000393386p.V2149Vc.6447C>TSubstitution - coding silent
SCINENSG00000006747ENST00000297029p.F635Ic.1903T>ASubstitution - Missense
POT1ENSG00000128513ENST00000357628p.?c.10-7_12deltctttagGTTUnknown
POT1ENSG00000128513ENST00000357628p.?c.10-7_12deltctttagGTTUnknown
POT1ENSG00000128513ENST00000357628p.V326Ac.977T>CSubstitution - Missense
ENST00000380086p.L735Ic.2203C>ASubstitution - Missense
NOL6ENSG00000165271ENST00000297990p.A506Ac.1518T>CSubstitution - coding silent
FANCGENSG00000221829ENST00000378643p.A153Gc.458C>GSubstitution - Missense
ENST00000377824p.A89Pc.265G>CSubstitution - Missense
ANKRD18AENSG00000180071ENST00000399703p.Q234Qc.702A>GSubstitution - coding silent
KDM4CENSG00000107077ENST00000381306p.S880Cc.2639C>GSubstitution - Missense
KDM4CENSG00000107077ENST00000381309p.S880Cc.2639C>GSubstitution - Missense
DCP1AENSG00000162290ENST00000294241p.?c.510+7C>TUnknown
FAM208AENSG00000163946ENST00000431842p.K1222Kc.3666A>GSubstitution - coding silent
FAM208AENSG00000163946ENST00000355628p.K1598Kc.4794A>GSubstitution - coding silent
MYOM2ENSG00000036448ENST00000262113p.E1039Ec.3117G>ASubstitution - coding silent
SORBS3ENSG00000120896ENST00000240123p.L469Qc.1406T>ASubstitution - Missense
DPYSL2ENSG00000092964ENST00000311151p.A407Ac.1221C>TSubstitution - coding silent
KCNS2ENSG00000156486ENST00000287042p.P130Lc.389C>TSubstitution - Missense
ENST00000411702p.I5009Ic.15027C>TSubstitution - coding silent
AATKENSG00000181409ENST00000326724p.L1154Lc.3462G>ASubstitution - coding silent
TAF4BENSG00000141384ENST00000269142p.R829Hc.2486G>ASubstitution - Missense
LPIN2ENSG00000101577ENST00000261596p.L704Ic.2110C>ASubstitution - Missense
MX1ENSG00000157601ENST00000398598p.?c.1008+1G>CUnknown
COL6A1ENSG00000142156ENST00000361866p.?c.2465-9G>AUnknown
FRG2CENSG00000172969ENST00000308062p.P8Tc.22C>ASubstitution - Missense
THUMPD3ENSG00000134077ENST00000452837p.Q504fs*>4c.1511delADeletion - Frameshift
SLC4A4ENSG00000080493ENST00000425175p.?c.2621+3G>AUnknown
SLC4A4ENSG00000080493ENST00000340595p.?c.2489+3G>AUnknown
KRTAP4-16PENSG00000241241ENST00000440582p.S14fs*184c.41_84>40Unknown
KRTAP4-9ENSG00000212722ENST00000391415p.V58Ac.173T>CSubstitution - Missense
KRTAP9-4ENSG00000241595ENST00000334109p.T109Tc.327A>GSubstitution - coding silent
KRTAP9-4ENSG00000241595ENST00000334109p.P128Pc.384C>GSubstitution - coding silent
TIAM1ENSG00000156299ENST00000286827p.T158Ac.472A>GSubstitution - Missense
TRIM17ENSG00000162931ENST00000366697p.L207Pc.620T>CSubstitution - Missense
TRIM17ENSG00000162931ENST00000456946p.L207Pc.620T>CSubstitution - Missense
ATF7IPENSG00000171681ENST00000261168p.A864Tc.2590G>ASubstitution - Missense
DNAJC22ENSG00000178401ENST00000549441p.E259Ac.776A>CSubstitution - Missense
ALPK3ENSG00000136383ENST00000258888p.S1597Cc.4790C>GSubstitution - Missense
ENST00000368577p.P851Sc.2551C>TSubstitution - Missense
EDDM3BENSG00000181552ENST00000326783p.C19Cc.57C>TSubstitution - coding silent
OR4D9ENSG00000172742ENST00000329328p.T288Tc.864G>ASubstitution - coding silent
VWCEENSG00000167992ENST00000335613p.?c.2140-4C>TUnknown
PCENSG00000173599ENST00000393955p.H506Yc.1516C>TSubstitution - Missense
PITPNM1ENSG00000110697ENST00000534749p.P987Qc.2960C>ASubstitution - Missense
IGHMBP2ENSG00000132740ENST00000255078p.H122Hc.366C>TSubstitution - coding silent
NALCNENSG00000102452ENST00000251127p.I224Nc.671T>ASubstitution - Missense
ZIC5ENSG00000139800ENST00000267294p.D404Nc.1210G>ASubstitution - Missense
ELK3ENSG00000111145ENST00000228741p.R184Gc.550A>GSubstitution - Missense
ACSL5ENSG00000197142ENST00000356116p.Y415Yc.1245C>TSubstitution - coding silent
FAM204AENSG00000165669ENST00000369183p.N112Kc.336T>GSubstitution - Missense
CEP57ENSG00000166037ENST00000325542p.E223Ec.669A>GSubstitution - coding silent
CHPT1ENSG00000111666ENST00000229266p.A150Ac.450C>TSubstitution - coding silent
ARHGEF16ENSG00000130762ENST00000378378p.S602Lc.1805C>TSubstitution - Missense
GLB1L3ENSG00000166105ENST00000431683p.S415Sc.1245G>ASubstitution - coding silent
ENST00000299136p.S76Sc.228G>ASubstitution - coding silent
ENST00000318117p.Q71Kc.211C>ASubstitution - Missense
PADI3ENSG00000142619ENST00000375460p.R186Qc.557G>ASubstitution - Missense
CHD4ENSG00000111642ENST00000357008p.?c.4515+6C>AUnknown
PHB2ENSG00000215021ENST00000535923p.I79Vc.235A>GSubstitution - Missense
TMPRSS13ENSG00000137747ENST00000445164p.R501Cc.1501C>TSubstitution - Missense
USP2ENSG00000036672ENST00000525735p.T118Nc.353C>ASubstitution - Missense
MMP7ENSG00000137673ENST00000260227p.I79Tc.236T>CSubstitution - Missense
ENST00000298815_v65p.Y488Cc.1463A>GSubstitution - Missense
TMEM133ENSG00000170647ENST00000303130p.L40fs*1c.114delCDeletion - Frameshift
MUC2ENSG00000198788ENST00000441003p.P120Sc.358C>TSubstitution - Missense
MUC2ENSG00000198788ENST00000359061p.P120Sc.358C>TSubstitution - Missense
ALKBH8ENSG00000137760ENST00000428149p.Y374Cc.1121A>GSubstitution - Missense
KIAA1324ENSG00000116299ENST00000369939p.T436Tc.1308C>TSubstitution - coding silent
NBPF10ENSG00000163386ENST00000342960p.?c.1802-4G>TUnknown
ITGA10ENSG00000143127ENST00000369304p.T164Ac.490A>GSubstitution - Missense
ENST00000377072_v68p.Q922Qc.2766A>GSubstitution - coding silent
C10orf67ENSG00000179133ENST00000376500p.A148Ac.444G>ASubstitution - coding silent
MLLT10ENSG00000078403ENST00000307729p.Q906Qc.2718A>GSubstitution - coding silent
CACNA1HENSG00000196557ENST00000358590p.A333Tc.997G>ASubstitution - Missense
ANAPC16ENSG00000166295ENST00000299381p.R95Qc.284G>ASubstitution - Missense
CDC42BPGENSG00000171219ENST00000342711p.N714Nc.2142C>TSubstitution - coding silent
PCNXL3ENSG00000197136ENST00000355703p.H35Hc.105C>TSubstitution - coding silent
MACF1ENSG00000127603ENST00000360115p.D2019Ec.6057C>ASubstitution - Missense
IQCDENSG00000166578ENST00000299732p.K231Ec.691A>GSubstitution - Missense
SPTBN5ENSG00000137877ENST00000320955p.A1487Tc.4459G>ASubstitution - Missense
CMPK1ENSG00000162368ENST00000371873p.V146Ic.436G>ASubstitution - Missense
RALGAPA1ENSG00000174373ENST00000307138p.H243Qc.729T>GSubstitution - Missense
FKBP4ENSG00000004478ENST00000001008p.?c.394-6C>TUnknown
ENST00000431011_v68p.E76*c.226G>TSubstitution - Nonsense
RUSC1ENSG00000160753ENST00000368354p.R766Hc.2297G>ASubstitution - Missense
RUSC1ENSG00000160753ENST00000368347p.R462Hc.1385G>ASubstitution - Missense
RUSC1ENSG00000160753ENST00000292254p.R403Hc.1208G>ASubstitution - Missense
DCST2ENSG00000163354ENST00000368424p.G13Rc.37G>CSubstitution - Missense
CNTN2ENSG00000184144ENST00000331830p.R684Gc.2050C>GSubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.?c.5597-10T>CUnknown
NOTCH2NLENSG00000213240ENST00000362074p.T50Tc.150G>ASubstitution - coding silent
NOTCH2NLENSG00000213240ENST00000362074p.T50Tc.150G>ASubstitution - coding silent
NOTCH2NLENSG00000213240ENST00000344859p.T50Tc.150G>ASubstitution - coding silent
OR2L5ENSG00000197454ENST00000355281p.W219Rc.655T>CSubstitution - Missense
DNAJC11ENSG00000007923ENST00000426784p.T318Tc.954T>CSubstitution - coding silent
SAMD13ENSG00000203943ENST00000370667p.M13Tc.38T>CSubstitution - Missense
GALCENSG00000054983ENST00000261304p.Q328Ec.982C>GSubstitution - Missense
PTPN11ENSG00000179295ENST00000351677p.S502Pc.1504T>CSubstitution - Missense
MSH6ENSG00000116062ENST00000234420p.V474Ac.1421T>CSubstitution - Missense
NRASENSG00000213281ENST00000369535p.G12Sc.34G>ASubstitution - Missense
ASTN1ENSG00000152092ENST00000361833p.N608Nc.1824C>TSubstitution - coding silent
SPRY4ENSG00000187678ENST00000344120p.P142Pc.426C>TSubstitution - coding silent
LMNB2ENSG00000176619ENST00000582871p.S561Lc.1682C>TSubstitution - Missense
GTF3C1ENSG00000077235ENST00000356183p.V11Vc.33C>TSubstitution - coding silent
ANKRD36ENSG00000135976ENST00000420699p.D966Dc.2898C>TSubstitution - coding silent
PROS1ENSG00000184500ENST00000394236p.A303Vc.908C>TSubstitution - Missense
TMPRSS13ENSG00000137747ENST00000524993p.R501Cc.1501C>TSubstitution - Missense
TBK1ENSG00000183735ENST00000331710p.R724Cc.2170C>TSubstitution - Missense
TBK1ENSG00000183735ENST00000331710p.R724Cc.2170C>TSubstitution - Missense
NM_032121.3p.?c.532-1G>TUnknown
METTL3ENSG00000165819ENST00000298717p.Y569Cc.1706A>GSubstitution - Missense
CREBBPENSG00000005339ENST00000262367p.?c.1942-1G>TUnknown
ZFHX4ENSG00000091656ENST00000521891p.D3416Dc.10248C>TSubstitution - coding silent
OBSCNENSG00000154358ENST00000570156p.T6334Tc.19002G>ASubstitution - coding silent
SU_OBSCN.1p.T6204Tc.18612G>ASubstitution - coding silent
NR0B1ENSG00000169297ENST00000378970p.R51Kc.152G>ASubstitution - Missense
PCDHB5ENSG00000113209ENST00000231134p.T451Sc.1351A>TSubstitution - Missense
KHDC3LENSG00000203908ENST00000370367p.V174Vc.522G>CSubstitution - coding silent
ANKRD16ENSG00000134461ENST00000380092p.L225Lc.675C>TSubstitution - coding silent
RETSATENSG00000042445ENST00000295802p.H284Rc.851A>GSubstitution - Missense
CNTNAP5ENSG00000155052ENST00000431078p.R250Qc.749G>ASubstitution - Missense
USH2AENSG00000042781ENST00000307340p.?c.3811+10C>AUnknown
USH2AENSG00000042781ENST00000307340p.S3947Fc.11840C>TSubstitution - Missense
PROX1ENSG00000117707ENST00000498508p.P304Pc.912A>CSubstitution - coding silent
RCBTB1ENSG00000136144ENST00000378302p.S317Sc.951C>GSubstitution - coding silent
SSH1ENSG00000084112ENST00000326470p.K394Kc.1182G>ASubstitution - coding silent
SCELENSG00000136155ENST00000349847p.?c.692+8G>AUnknown
AGLENSG00000162688ENST00000370163p.G1223Dc.3668G>ASubstitution - Missense
GPRIN2ENSG00000204175ENST00000374317p.R17Rc.51C>TSubstitution - coding silent
BMS1ENSG00000165733ENST00000374518p.R1130Qc.3389G>ASubstitution - Missense
ENST00000426433p.?c.330+8C>TUnknown
ENST00000345581p.?c.231+8C>TUnknown
OBSCNENSG00000154358ENST00000570156p.V576Mc.1726G>ASubstitution - Missense
SU_OBSCN.1p.V576Mc.1726G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.V576Mc.1726G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000359599p.V576Mc.1726G>ASubstitution - Missense
IBA57-AS1ENSG00000203684ENST00000366713p.Y100fs*4c.298_299insGTInsertion - Frameshift
SNAP47ENSG00000143740ENST00000366759p.T168Ac.502A>GSubstitution - Missense
ZSWIM8ENSG00000214655ENST00000398706p.K1015Kc.3045A>GSubstitution - coding silent
ENST00000412131p.K1010Kc.3030A>GSubstitution - coding silent
ZSWIM8ENSG00000214655ENST00000398706p.R1019Rc.3055C>ASubstitution - coding silent
ENST00000412131p.R1014Rc.3040C>ASubstitution - coding silent
ZSWIM8ENSG00000214655ENST00000398706p.R399Rc.1195C>ASubstitution - coding silent
CDHR1ENSG00000148600ENST00000372117p.R202Sc.606G>CSubstitution - Missense
NUTM2DENSG00000214562ENST00000381697p.V43Vc.129A>GSubstitution - coding silent
NUTM2DENSG00000214562ENST00000412718p.V43Vc.129A>GSubstitution - coding silent
SORBS1ENSG00000095637ENST00000371245p.R74Wc.220C>TSubstitution - Missense
ENST00000349637p.V3216Fc.9646G>TSubstitution - Missense
ENST00000349637p.T2041Ic.6122C>TSubstitution - Missense
PKP3ENSG00000184363ENST00000331563p.D743Dc.2229C>TSubstitution - coding silent
GPATCH4ENSG00000160818ENST00000368232p.G290Ec.869G>ASubstitution - Missense
FCRL1ENSG00000163534ENST00000368176p.?c.887-1G>AUnknown
DNAJC16ENSG00000116138ENST00000375847p.N591Dc.1771A>GSubstitution - Missense
R3HDM2ENSG00000179912ENST00000347140p.N914Nc.2742C>TSubstitution - coding silent
ENST00000393811p.N575Nc.1725C>TSubstitution - coding silent
R3HDM2ENSG00000179912ENST00000441731p.N609Nc.1827C>TSubstitution - coding silent
LRP1ENSG00000123384ENST00000243077p.?c.6186+4C>TUnknown
MBD6ENSG00000166987ENST00000355673p.G526Gc.1578C>TSubstitution - coding silent
MBD6ENSG00000166987ENST00000355673p.H915Yc.2743C>TSubstitution - Missense
TAPBPLENSG00000139192ENST00000266556p.I155Vc.463A>GSubstitution - Missense
EPHA8ENSG00000070886ENST00000166244p.?c.2117-6G>AUnknown


COSMIC

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