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NCI-H28 - Mutations - Cell Line Synopsis



    


COSMIC - Cell Lines Project

774 mutations reported
258 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
MSH3ENSG00000113318ENST00000265081p.Y236Sc.707A>CSubstitution - Missense
PCDHGA7ENSG00000253537ENST00000518325p.L167Ic.499C>ASubstitution - Missense
LIG3ENSG00000005156ENST00000378526p.H795Yc.2383C>TSubstitution - Missense
RESTENSG00000084093ENST00000309042p.K424Kc.1272A>GSubstitution - coding silent
NM_058004.1p.A1000Tc.2998G>ASubstitution - Missense
ENST00000254689p.R28Sc.84A>TSubstitution - Missense
CAPN11ENSG00000137225ENST00000398776p.W639fs*15c.1915_1916insTInsertion - Frameshift
RING1ENSG00000204227ENST00000374656p.E382Qc.1144G>CSubstitution - Missense
FSTL5ENSG00000168843ENST00000306100p.M90Tc.269T>CSubstitution - Missense
COBLENSG00000106078ENST00000395542p.G1216Rc.3646G>ASubstitution - Missense
HEPHENSG00000089472ENST00000519389p.L607Lc.1821G>ASubstitution - coding silent
LEMD2ENSG00000161904ENST00000293760p.Y308Cc.923A>GSubstitution - Missense
TBCCD1ENSG00000113838ENST00000338733p.V438Lc.1312G>CSubstitution - Missense
ENST00000340070p.V19Mc.55G>ASubstitution - Missense
ENST00000394982p.E59*c.175G>TSubstitution - Nonsense
MCF2LENSG00000126217ENST00000423482p.E222Kc.664G>ASubstitution - Missense
CPS1ENSG00000021826ENST00000233072p.S755Sc.2265C>TSubstitution - coding silent
DIAPH3ENSG00000139734ENST00000400324p.Q858Qc.2574A>GSubstitution - coding silent
SLC2A9ENSG00000109667ENST00000309065p.R488Rc.1464G>ASubstitution - coding silent
OBSCNENSG00000154358ENST00000359599p.R4161Rc.12483G>ASubstitution - coding silent
NTRK3ENSG00000140538ENST00000360948p.V451Ic.1351G>ASubstitution - Missense
ENST00000382949p.V121Vc.363G>ASubstitution - coding silent
TRAPPC4ENSG00000196655ENST00000533632p.?c.578_581+1delTCAGgUnknown
KIAA1467ENSG00000084444ENST00000197268p.S114Lc.341C>TSubstitution - Missense
ZNF317ENSG00000130803ENST00000247956p.E70Kc.208G>ASubstitution - Missense
TNS1ENSG00000079308ENST00000446903p.Q780_X781insQQc.2325_2326insCAGCAGInsertion - In frame
NAAAENSG00000138744ENST00000286733p.R142Qc.425G>ASubstitution - Missense
ROBO1ENSG00000169855ENST00000495273p.L1435Ic.4303C>ASubstitution - Missense
STAB1ENSG00000010327ENST00000321725p.A1054Tc.3160G>ASubstitution - Missense
BAATENSG00000136881ENST00000259407p.P84Sc.250C>TSubstitution - Missense
ENST00000304105p.V247Fc.739G>TSubstitution - Missense
SVEP1ENSG00000165124ENST00000302728p.K805Nc.2415A>CSubstitution - Missense
ENST00000316893p.D1777Dc.5331C>TSubstitution - coding silent
TENM4ENSG00000149256ENST00000278550p.R1561Rc.4681C>ASubstitution - coding silent
NARS2ENSG00000137513ENST00000281038p.Y142Hc.424T>CSubstitution - Missense
IPO4ENSG00000196497ENST00000354464p.D50Nc.148G>ASubstitution - Missense
COL8A2ENSG00000171812ENST00000397799p.E195Dc.585G>TSubstitution - Missense
USP6NLENSG00000148429ENST00000277575p.I195Vc.583A>GSubstitution - Missense
KIAA0319LENSG00000142687ENST00000325722p.P503fs*10c.1508delCDeletion - Frameshift
GPR137ENSG00000173264ENST00000438980p.T250Tc.750C>TSubstitution - coding silent
ENST00000318252p.Q2034Rc.6101A>GSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.S689Yc.2066C>ASubstitution - Missense
C19orf38ENSG00000214212ENST00000397820p.G69Rc.205G>ASubstitution - Missense
CCDC96ENSG00000173013ENST00000310085p.K313Tc.938A>CSubstitution - Missense
COPB2ENSG00000184432ENST00000333188p.N70Tc.209A>CSubstitution - Missense
ZDHHC3ENSG00000163812ENST00000339420p.Q104Qc.312G>ASubstitution - coding silent
MND1ENSG00000121211ENST00000240488p.E118*c.352G>TSubstitution - Nonsense
NUP88ENSG00000108559ENST00000573584p.L643Pc.1928T>CSubstitution - Missense
RNGTTENSG00000111880ENST00000369485p.A230Ac.690T>CSubstitution - coding silent
PCDHB5ENSG00000113209ENST00000231134p.T350Ac.1048A>GSubstitution - Missense
HLA-DRB1ENSG00000196126ENST00000360004p.A87Dc.260C>ASubstitution - Missense
GSNENSG00000148180ENST00000373818p.V698Ic.2092G>ASubstitution - Missense
GSNENSG00000148180ENST00000373823p.V647Ic.1939G>ASubstitution - Missense
ANXA13ENSG00000104537ENST00000262219p.R134Qc.401G>ASubstitution - Missense
COL27A1ENSG00000196739ENST00000356083p.G1340Gc.4020G>CSubstitution - coding silent
CLASP1ENSG00000074054ENST00000541859p.G947Ec.2840G>ASubstitution - Missense
NID2ENSG00000087303ENST00000216286p.A556Vc.1667C>TSubstitution - Missense
PCDHB10ENSG00000120324ENST00000239446p.G622Gc.1866G>CSubstitution - coding silent
CPS1ENSG00000021826ENST00000430249p.S761Sc.2283C>TSubstitution - coding silent
SLC6A4ENSG00000108576ENST00000261707p.A505Tc.1513G>ASubstitution - Missense
CR1ENSG00000203710ENST00000367049p.G1718Cc.5152G>TSubstitution - Missense
ANO9ENSG00000185101ENST00000332826p.E372Kc.1114G>ASubstitution - Missense
FOLR3ENSG00000110203ENST00000456237p.H42Yc.124C>TSubstitution - Missense
WDFY4ENSG00000128815ENST00000360890p.R584Wc.1750C>TSubstitution - Missense
TMTC1ENSG00000133687ENST00000381224p.S261Sc.783G>TSubstitution - coding silent
VPS13CENSG00000129003ENST00000261517p.L3654Lc.10960T>CSubstitution - coding silent
ENST00000355290p.W300Rc.898T>CSubstitution - Missense
NPIPB15ENSG00000196436ENST00000429990p.W361Rc.1081T>CSubstitution - Missense
SGTAENSG00000104969ENST00000221566p.H16Rc.47A>GSubstitution - Missense
ZNF844ENSG00000223547ENST00000439326p.M357Vc.1069A>GSubstitution - Missense
DNMT3LENSG00000142182ENST00000270172p.V29Fc.85G>TSubstitution - Missense
ENST00000377734p.C65Cc.195T>CSubstitution - coding silent
PLCL1ENSG00000115896ENST00000428675p.V316Lc.946G>TSubstitution - Missense
KPNA2ENSG00000182481ENST00000330459p.E458Gc.1373A>GSubstitution - Missense
ENST00000222857p.Q155Pc.464A>CSubstitution - Missense
SU_MAST3p.Y468Yc.1404C>TSubstitution - coding silent
ACLYENSG00000131473ENST00000352035p.G380Vc.1139G>TSubstitution - Missense
SMC2ENSG00000136824ENST00000303219p.T1098Tc.3294A>TSubstitution - coding silent
ARAP3ENSG00000120318ENST00000239440p.E721Qc.2161G>CSubstitution - Missense
C7orf65ENSG00000221845ENST00000408988p.I81Lc.241A>CSubstitution - Missense
PLXND1ENSG00000004399ENST00000393239p.?c.3246-5C>TUnknown
SEZ6ENSG00000063015ENST00000360295p.E137Gc.410A>GSubstitution - Missense
C1orf116ENSG00000182795ENST00000359470p.D206Nc.616G>ASubstitution - Missense
ARHGAP32ENSG00000134909ENST00000392657p.D1425Nc.4273G>ASubstitution - Missense
UNC119BENSG00000175970ENST00000344651p.L217Vc.649C>GSubstitution - Missense
ENST00000429306p.L152Lc.454T>CSubstitution - coding silent
FBXL22ENSG00000197361ENST00000360587p.P63Pc.189G>ASubstitution - coding silent
PYGLENSG00000100504ENST00000216392p.P230Pc.690C>TSubstitution - coding silent
NUTM1ENSG00000184507ENST00000333756p.A678Ac.2034A>CSubstitution - coding silent
ENST00000344049p.L151Lc.453T>GSubstitution - coding silent
ZNF208ENSG00000160321ENST00000397126p.S1043Rc.3129C>ASubstitution - Missense
FAM92A1ENSG00000188343ENST00000518322p.K67*c.199A>TSubstitution - Nonsense
XM_043272.9p.S627Rc.1881C>GSubstitution - Missense
HIST1H2BGENSG00000187990ENST00000244601p.T91Ic.272C>TSubstitution - Missense
POTEHENSG00000198062ENST00000343518p.N472Nc.1416C>TSubstitution - coding silent
YTHDC2ENSG00000047188ENST00000161863p.R128Mc.383G>TSubstitution - Missense
ETAA1ENSG00000143971ENST00000272342p.D806Ec.2418T>GSubstitution - Missense
ALPPENSG00000163283ENST00000392027p.?c.77-9C>TUnknown
ZNF30ENSG00000168661ENST00000439785p.R36Mc.107G>TSubstitution - Missense
SUSD2ENSG00000099994ENST00000358321p.V633Lc.1897G>CSubstitution - Missense
NWD1ENSG00000188039ENST00000524140p.P1295Hc.3884C>ASubstitution - Missense
LCP2ENSG00000043462ENST00000046794p.D503Yc.1507G>TSubstitution - Missense
FLGENSG00000143631ENST00000368799p.S855Yc.2564C>ASubstitution - Missense
CPT1AENSG00000110090ENST00000265641p.R447Qc.1340G>ASubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.A3485Vc.10454C>TSubstitution - Missense
RAC1ENSG00000136238ENST00000356142p.P29Sc.85C>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000399617p.A34Ac.102G>ASubstitution - coding silent
TDRD1ENSG00000095627ENST00000251864p.T1117Tc.3351A>GSubstitution - coding silent
CPT1AENSG00000110090ENST00000376618p.R447Qc.1340G>ASubstitution - Missense
FYBENSG00000082074ENST00000351578p.G525Rc.1573G>ASubstitution - Missense
PPP1R3DENSG00000132825ENST00000370996p.R224Cc.670C>TSubstitution - Missense
ENST00000425519p.L1045Lc.3133T>CSubstitution - coding silent
ROBO2ENSG00000185008ENST00000461745p.?c.667+1G>AUnknown
PPEF2ENSG00000156194ENST00000286719p.R118Cc.352C>TSubstitution - Missense
DNMT3AENSG00000119772ENST00000406659p.S62Sc.186C>TSubstitution - coding silent
ZNF417ENSG00000173480ENST00000312026p.A465Ac.1395G>ASubstitution - coding silent
JARID2ENSG00000008083ENST00000341776p.Q114Hc.342A>CSubstitution - Missense
NM_138737.1p.L553Lc.1659G>ASubstitution - coding silent
NM_004440p.R330Rc.990G>ASubstitution - coding silent
ADCK4ENSG00000123815ENST00000324464p.R201Rc.603G>ASubstitution - coding silent
OR51B6ENSG00000176239ENST00000380219p.S35Sc.105C>GSubstitution - coding silent
PRICKLE3ENSG00000012211ENST00000536904p.H441_N442insHHc.1306_1307insATCACCInsertion - In frame
CACNA1CENSG00000151067ENST00000399634p.A34Ac.102G>ASubstitution - coding silent
RBM19ENSG00000122965ENST00000392561p.T665Sc.1993A>TSubstitution - Missense
GPR137ENSG00000173264ENST00000313074p.T250Tc.750C>TSubstitution - coding silent
CAPS2ENSG00000180881ENST00000409445p.?c.188+9C>TUnknown
ARHGEF10LENSG00000074964ENST00000375408p.N824Sc.2471A>GSubstitution - Missense
DYNC1H1ENSG00000197102ENST00000360184p.Y1383Cc.4148A>GSubstitution - Missense
TMC6ENSG00000141524ENST00000322914p.C355Cc.1065C>TSubstitution - coding silent
TENM1ENSG00000009694ENST00000371130p.E541*c.1621G>TSubstitution - Nonsense
ZNF208ENSG00000160321ENST00000397126p.E954Ec.2862G>ASubstitution - coding silent
SLC25A26ENSG00000144741ENST00000354883p.F154Fc.462T>CSubstitution - coding silent
ROBO1ENSG00000169855ENST00000464233p.L1480Ic.4438C>ASubstitution - Missense
ENST00000405167p.A1830Pc.5488G>CSubstitution - Missense
GRIPAP1ENSG00000068400ENST00000376423p.T616Ic.1847C>TSubstitution - Missense
FAM104BENSG00000182518ENST00000425133p.A60Vc.179C>TSubstitution - Missense
CXCR4ENSG00000121966ENST00000409817p.K72Kc.216A>GSubstitution - coding silent
SPRED3ENSG00000188766ENST00000338502p.T92Tc.276G>ASubstitution - coding silent
KIRREL2ENSG00000126259ENST00000262625p.A397Tc.1189G>ASubstitution - Missense
NEIL3ENSG00000109674ENST00000264596p.N58_D59insNc.168_169insAATInsertion - In frame
ENST00000416855p.V339Vc.1017G>ASubstitution - coding silent
ENST00000256343_v70p.K1113Tc.3338A>CSubstitution - Missense
CXCR4ENSG00000121966ENST00000241393p.K68Kc.204A>GSubstitution - coding silent
DYNC1I2ENSG00000077380ENST00000358002p.?c.1366_1368-3del858Unknown
KPRPENSG00000203786ENST00000368773p.C455Yc.1364G>ASubstitution - Missense
CLASP1ENSG00000074054ENST00000263710p.G1230Ec.3689G>ASubstitution - Missense
ENST00000557886_v68p.N167Sc.500A>GSubstitution - Missense
KRTAP5-2ENSG00000205867ENST00000412090p.G99Gc.297C>TSubstitution - coding silent
KRTAP5-2ENSG00000205867ENST00000412090p.G87Sc.259G>ASubstitution - Missense
ENST00000373722p.S287fs*38c.858delTDeletion - Frameshift
KDM2BENSG00000089094ENST00000377071p.P1051Ac.3151C>GSubstitution - Missense
CASZ1ENSG00000130940ENST00000377022p.R111Hc.332G>ASubstitution - Missense
TBL3ENSG00000183751ENST00000568546p.T376Tc.1128G>ASubstitution - coding silent
GALCENSG00000054983ENST00000261304p.N308Yc.922A>TSubstitution - Missense
ENST00000222301p.?c.221+7C>TUnknown
HILPDAENSG00000135245ENST00000257696p.D57fs*>8c.168_169insAInsertion - Frameshift
C19orf38ENSG00000214212ENST00000397820p.G69Rc.205G>ASubstitution - Missense
XM_496642.1p.M1070Lc.3208A>TSubstitution - Missense
NM_006226.1p.V218Lc.652G>TSubstitution - Missense
ENST00000356127p.R20222Ic.60665G>TSubstitution - Missense
ZSCAN18ENSG00000121413ENST00000433686p.A397Tc.1189G>ASubstitution - Missense
MYRIPENSG00000170011ENST00000302541p.P412Tc.1234C>ASubstitution - Missense
ATG16L1ENSG00000085978ENST00000392017p.L268Vc.802C>GSubstitution - Missense
INO80EENSG00000169592ENST00000563197p.G124Rc.370G>ASubstitution - Missense
KLC4ENSG00000137171ENST00000259708p.E246Kc.736G>ASubstitution - Missense
CCDC12ENSG00000160799ENST00000292314p.?c.96+5G>TUnknown
SVEP1ENSG00000165124ENST00000401783p.K805Nc.2415A>CSubstitution - Missense
CAGE1ENSG00000164304ENST00000338150p.Q631Hc.1893G>TSubstitution - Missense
C2orf61ENSG00000239605ENST00000445927p.A45Tc.133G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000354484p.H547Hc.1641C>TSubstitution - coding silent
MAGENSG00000105695ENST00000361922p.P438Pc.1314G>ASubstitution - coding silent
TCOF1ENSG00000070814ENST00000323668p.E338Kc.1012G>ASubstitution - Missense
AVL9ENSG00000105778ENST00000318709p.C257Rc.769T>CSubstitution - Missense
HUS1ENSG00000136273ENST00000436444p.P134Lc.401C>TSubstitution - Missense
KDRENSG00000128052ENST00000263923p.?c.1413-3T>GUnknown
FAM153CENSG00000204677ENST00000507848p.K136Kc.408A>GSubstitution - coding silent
COL22A1ENSG00000169436ENST00000303045p.G874Gc.2622C>TSubstitution - coding silent
TTNENSG00000155657ENST00000359218p.K20610Nc.61830G>CSubstitution - Missense
POM121ENSG00000196313ENST00000434423p.I1029Tc.3086T>CSubstitution - Missense
KMT2CENSG00000055609ENST00000355193p.H365Qc.1095C>GSubstitution - Missense
EPHA7ENSG00000135333ENST00000369303p.R330Rc.990G>ASubstitution - coding silent
OR8S1ENSG00000197376ENST00000310194p.W317*c.950G>ASubstitution - Nonsense
DISC1ENSG00000162946ENST00000366636p.L128Fc.384G>TSubstitution - Missense
CACNA1CENSG00000151067ENST00000402845p.A64Ac.192G>ASubstitution - coding silent
GTPBP4ENSG00000107937ENST00000360803p.M137Ic.411G>ASubstitution - Missense
RPAP3ENSG00000005175ENST00000005386p.E123Qc.367G>CSubstitution - Missense
CALCAENSG00000110680ENST00000361010p.L32Vc.94C>GSubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.E2173Kc.6517G>ASubstitution - Missense
SCAMP3ENSG00000116521ENST00000302631p.A57Tc.169G>ASubstitution - Missense
HERC1ENSG00000103657ENST00000443617p.S1662Gc.4984A>GSubstitution - Missense
ATXN3ENSG00000066427ENST00000393287p.Q305_G306insQQQQQc.891_892ins15Insertion - In frame
MUC16ENSG00000181143ENST00000397910p.S5940Sc.17820A>GSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.T215Nc.644C>ASubstitution - Missense
ENST00000428290_v65p.E954Ec.2862G>ASubstitution - coding silent
ANKRD36CENSG00000174501ENST00000295246p.R480Sc.1440A>TSubstitution - Missense
C8orf34ENSG00000165084ENST00000337103p.?c.1217-9G>TUnknown
GATA6ENSG00000141448ENST00000269216p.E486fs*11c.1449_1450insAInsertion - Frameshift
PCM1ENSG00000078674ENST00000325083p.S1290Fc.3869C>TSubstitution - Missense
IDO2ENSG00000188676ENST00000502986p.E301*c.901G>TSubstitution - Nonsense
RLTPRENSG00000159753ENST00000334583p.?c.375-7C>TUnknown
COL4A4ENSG00000081052ENST00000396625p.V260Ic.778G>ASubstitution - Missense
ATP6V1AENSG00000114573ENST00000273398p.D371Dc.1113T>CSubstitution - coding silent
TPPPENSG00000171368ENST00000360578p.R138Hc.413G>ASubstitution - Missense
ENST00000448396p.R496Cc.1486C>TSubstitution - Missense
ROBO1ENSG00000169855ENST00000464233p.L1480Ic.4438C>ASubstitution - Missense
BSNENSG00000164061ENST00000296452p.Q589Ec.1765C>GSubstitution - Missense
GNB1LENSG00000185838ENST00000329517p.R117Qc.350G>ASubstitution - Missense
ASXL2ENSG00000143970ENST00000435504p.V1333Vc.3999C>TSubstitution - coding silent
ENST00000405167p.T3268Tc.9804C>TSubstitution - coding silent
MUC12ENSG00000205277ENST00000536621p.N3207Nc.9621C>TSubstitution - coding silent
PGCENSG00000096088ENST00000373025p.?c.447+10C>TUnknown
FAM104BENSG00000182518ENST00000332132p.A60Vc.179C>TSubstitution - Missense
ZDHHC3ENSG00000163812ENST00000296127p.Q266Qc.798G>ASubstitution - coding silent
KIRREL2ENSG00000126259ENST00000360202p.A397Tc.1189G>ASubstitution - Missense
CXXC5ENSG00000171604ENST00000302517p.T161Tc.483G>ASubstitution - coding silent
DDCENSG00000132437ENST00000357936p.R39Rc.115C>ASubstitution - coding silent
PLIN4ENSG00000167676ENST00000301286p.G510Sc.1528G>ASubstitution - Missense
NWD1ENSG00000188039ENST00000339803p.H166Qc.498C>ASubstitution - Missense
MYO3BENSG00000071909ENST00000408978p.?c.1919-9T>GUnknown
HTR3DENSG00000186090ENST00000382489p.A52Tc.154G>ASubstitution - Missense
EXO1ENSG00000174371ENST00000366548p.C608Fc.1823G>TSubstitution - Missense
TIAM2ENSG00000146426ENST00000456144p.V814Fc.2440G>TSubstitution - Missense
TCOF1ENSG00000070814ENST00000394269p.E415Kc.1243G>ASubstitution - Missense
OBSCNENSG00000154358ENST00000284548p.R3878Rc.11634G>ASubstitution - coding silent
CAMSAP2ENSG00000118200ENST00000358823p.S306Lc.917C>TSubstitution - Missense
CACNA1SENSG00000081248ENST00000362061p.R823Wc.2467C>TSubstitution - Missense
KCNK10ENSG00000100433ENST00000312350p.R227*c.679C>TSubstitution - Nonsense
DUTENSG00000128951ENST00000331200p.?c.419+3G>CUnknown
FYBENSG00000082074ENST00000505428p.G525Rc.1573G>ASubstitution - Missense
MYO15AENSG00000091536ENST00000205890p.L1018Lc.3052C>TSubstitution - coding silent
XM_042978.4p.S567Sc.1701C>TSubstitution - coding silent
POLR1EENSG00000137054ENST00000377792p.Y71_W74delYIVWc.198_209del12Deletion - In frame
ENST00000425519p.P72Pc.216C>GSubstitution - coding silent
SIK1ENSG00000142178ENST00000270162p.A518Pc.1552G>CSubstitution - Missense
TCFL5ENSG00000101190ENST00000335351p.G93Sc.277G>ASubstitution - Missense
RRAGBENSG00000083750ENST00000262850p.M19Ic.57G>CSubstitution - Missense
CNDP1ENSG00000150656ENST00000358821p.?c.153+4G>AUnknown
OR1E2ENSG00000127780ENST00000248384p.Y227Cc.680A>GSubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.S458Sc.1374T>CSubstitution - coding silent
CPAMD8ENSG00000160111ENST00000291440p.R191Qc.572G>ASubstitution - Missense
SIN3BENSG00000127511ENST00000379803p.E156Kc.466G>ASubstitution - Missense
SCN1AENSG00000144285ENST00000375405p.F1820Fc.5460T>CSubstitution - coding silent
SPRR1AENSG00000169474ENST00000368762p.P46Hc.137C>ASubstitution - Missense
CTCFLENSG00000124092ENST00000423479p.T479Ac.1435A>GSubstitution - Missense
SDK2ENSG00000069188ENST00000392650p.G510Cc.1528G>TSubstitution - Missense
VHLENSG00000134086ENST00000256474p.L89Hc.266T>ASubstitution - Missense
ENST00000371829p.S103Rc.309C>ASubstitution - Missense
TEP1ENSG00000129566ENST00000262715p.L2487Pc.7460T>CSubstitution - Missense
USP6NLENSG00000148429ENST00000277575p.R751Rc.2251A>CSubstitution - coding silent
ATMENSG00000149311ENST00000278616p.Q1361Rc.4082A>GSubstitution - Missense
GLG1ENSG00000090863ENST00000205061p.I770Vc.2308A>GSubstitution - Missense
HIF1AENSG00000100644ENST00000337138p.C90fs*1c.269_288del20Deletion - Frameshift
NFIAENSG00000162599ENST00000371189p.P66Pc.198C>ASubstitution - coding silent
PALMENSG00000099864ENST00000338448p.S103Sc.309C>TSubstitution - coding silent
APOBENSG00000084674ENST00000233242p.M4382Ic.13146G>CSubstitution - Missense
ENST00000428290_v65p.S915Rc.2745C>ASubstitution - Missense
TNFSF12ENSG00000239697ENST00000293825p.T129Kc.386C>ASubstitution - Missense
GBA2ENSG00000070610ENST00000378103p.M9Lc.25A>CSubstitution - Missense
C19orf38ENSG00000214212ENST00000397820p.A81Vc.242C>TSubstitution - Missense
SAMD9ENSG00000205413ENST00000379958p.A518fs*3c.1551_1552insAInsertion - Frameshift
C8orf34ENSG00000165084ENST00000518698p.?c.1292-9G>TUnknown
SAP130ENSG00000136715ENST00000357702p.I576Tc.1727T>CSubstitution - Missense
CD3EAPENSG00000117877ENST00000309424p.A378Ec.1133C>ASubstitution - Missense
FAM172AENSG00000113391ENST00000395965p.K232*c.694A>TSubstitution - Nonsense
PCDH11YENSG00000099715ENST00000362095p.G204Rc.610G>ASubstitution - Missense
KIAA1671ENSG00000197077ENST00000358431p.D661Nc.1981G>ASubstitution - Missense
SNX13ENSG00000071189ENST00000428135p.D839Ec.2517T>ASubstitution - Missense
TTNENSG00000155657ENST00000342175p.K20677Nc.62031G>CSubstitution - Missense
OR10S1ENSG00000196248ENST00000531945p.L313Mc.937C>ASubstitution - Missense
NGDNENSG00000129460ENST00000397154p.Q109Qc.327A>GSubstitution - coding silent
TUBGCP2ENSG00000130640ENST00000252936p.Q373Rc.1118A>GSubstitution - Missense
PCCAENSG00000175198ENST00000376285p.V299Lc.895G>CSubstitution - Missense
PLA2G4EENSG00000188089ENST00000413860p.?c.1744+5_1744+38del34Unknown
DCDC1ENSG00000170959ENST00000339794p.L544Lc.1630T>CSubstitution - coding silent
NFIAENSG00000162599ENST00000485903p.P21Pc.63C>ASubstitution - coding silent
PPLENSG00000118898ENST00000345988p.E1360Qc.4078G>CSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.A1830Pc.5488G>CSubstitution - Missense
RHBDD3ENSG00000100263ENST00000216085p.R328Pc.983G>CSubstitution - Missense
IDO2ENSG00000188676ENST00000389060p.E288*c.862G>TSubstitution - Nonsense
ROPN1BENSG00000114547ENST00000251776p.P207Pc.621C>TSubstitution - coding silent
MRPL3ENSG00000114686ENST00000264995p.T230Tc.690G>ASubstitution - coding silent
FAM184AENSG00000111879ENST00000338891p.Q174Kc.520C>ASubstitution - Missense
FAM227AENSG00000184949ENST00000355830p.H197Yc.589C>TSubstitution - Missense
BCORL1ENSG00000085185ENST00000303743p.V1389Vc.4167C>TSubstitution - coding silent
TRIM64CENSG00000214891ENST00000530230p.V19Mc.55G>ASubstitution - Missense
NM_003319p.K20485Nc.61455G>CSubstitution - Missense
TIAM2ENSG00000146426ENST00000367174p.V190Fc.568G>TSubstitution - Missense
STK10ENSG00000072786ENST00000176763p.K670Nc.2010G>TSubstitution - Missense
ZFYVE27ENSG00000155256ENST00000356257p.V17Mc.49G>ASubstitution - Missense
ENST00000376625_v68p.R140Hc.419G>ASubstitution - Missense
NGDNENSG00000129460ENST00000408901p.Q109Qc.327A>GSubstitution - coding silent
GOLGA6L19ENSG00000259243ENST00000557886p.N167Sc.500A>GSubstitution - Missense
PPM1AENSG00000100614ENST00000529574p.A3Tc.7G>ASubstitution - Missense
OR2T4ENSG00000196944ENST00000366475p.Y136Cc.407A>GSubstitution - Missense
MCF2LENSG00000126217ENST00000375604p.E281Kc.841G>ASubstitution - Missense
ZNF99ENSG00000213973ENST00000397104p.E864*c.2590G>TSubstitution - Nonsense
ROBO1ENSG00000169855ENST00000464233p.L1480Ic.4438C>ASubstitution - Missense
EPHB6ENSG00000106123ENST00000392957p.R860Rc.2580G>ASubstitution - coding silent
ENST00000405167p.P2322Lc.6965C>TSubstitution - Missense
DKK2ENSG00000155011ENST00000285311p.C90Cc.270C>TSubstitution - coding silent
POM121ENSG00000196313ENST00000257622p.I764Tc.2291T>CSubstitution - Missense
PKDREJENSG00000130943ENST00000253255p.T992Sc.2974A>TSubstitution - Missense
CAGE1ENSG00000164304ENST00000502583p.Q631Hc.1893G>TSubstitution - Missense
GTF3C4ENSG00000125484ENST00000372146p.H791Lc.2372A>TSubstitution - Missense
SLITRK4ENSG00000179542ENST00000381779p.E692Kc.2074G>ASubstitution - Missense
XPO5ENSG00000124571ENST00000265351p.L228Pc.683T>CSubstitution - Missense
VWFENSG00000110799ENST00000261405p.V1401Ic.4201G>ASubstitution - Missense
CCDC169ENSG00000242715ENST00000239859p.N8Nc.24C>TSubstitution - coding silent
WDR3ENSG00000065183ENST00000349139p.?c.1_676-98>CGACAUnknown
ST3GAL3ENSG00000126091ENST00000361746p.G361Gc.1083C>ASubstitution - coding silent
CCDC18ENSG00000122483ENST00000334652p.?c.2647-5G>AUnknown
ZNF208ENSG00000160321ENST00000397126p.E1082Ec.3246G>ASubstitution - coding silent
EEFSECENSG00000132394ENST00000254730p.Q371Ec.1111C>GSubstitution - Missense
COL6A6ENSG00000206384ENST00000358511p.F1848Lc.5542T>CSubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.D1017Nc.3049G>ASubstitution - Missense
PGCENSG00000096088ENST00000425343p.?c.447+10C>TUnknown
ZBED4ENSG00000100426ENST00000216268p.H505Rc.1514A>GSubstitution - Missense
FOXO3ENSG00000118689ENST00000343882p.N508Nc.1524C>TSubstitution - coding silent
BZRAP1ENSG00000005379ENST00000343736p.R1355Rc.4063C>ASubstitution - coding silent
AVL9ENSG00000105778ENST00000404479p.C257Rc.769T>CSubstitution - Missense
OR2F2ENSG00000221910ENST00000408955p.A74Tc.220G>ASubstitution - Missense
PKN1ENSG00000123143ENST00000242783p.S121Sc.363G>ASubstitution - coding silent
TPOENSG00000115705ENST00000345913p.V902Lc.2704G>TSubstitution - Missense
PDXDC1ENSG00000179889ENST00000455313p.A404Ac.1212G>ASubstitution - coding silent
CLASP1ENSG00000074054ENST00000545861p.G937Ec.2810G>ASubstitution - Missense
MEI1ENSG00000167077ENST00000540833p.I325Ic.975C>TSubstitution - coding silent
PGM2L1ENSG00000165434ENST00000298198p.C520Fc.1559G>TSubstitution - Missense
NTRK3ENSG00000140538ENST00000317501p.V451Ic.1351G>ASubstitution - Missense
ZFHX2ENSG00000136367ENST00000419474p.R895Hc.2684G>ASubstitution - Missense
FMN1ENSG00000248905ENST00000320930p.D138_W139delDWc.412_417delGACTGGDeletion - In frame
SLC4A11ENSG00000088836ENST00000380059p.K397Rc.1190A>GSubstitution - Missense
TTNENSG00000155657ENST00000342992p.K26982Nc.80946G>CSubstitution - Missense
ENST00000356127p.K26980Nc.80940G>CSubstitution - Missense
NISCHENSG00000010322ENST00000488380p.H42Pc.125A>CSubstitution - Missense
TOPAZ1ENSG00000173769ENST00000309765p.R98Pc.293G>CSubstitution - Missense
TOPAZ1ENSG00000173769ENST00000309765p.R98Pc.293G>CSubstitution - Missense
ATXN3ENSG00000066427ENST00000532032p.Q305_G306insQQQQQc.891_892ins15Insertion - In frame
ATXN3ENSG00000066427ENST00000429774p.Q298_G299insQQQQQc.870_871ins15Insertion - In frame
WDR3ENSG00000065183ENST00000369441p.0c.0Unknown
RAD51AP1ENSG00000111247ENST00000543041p.L19fs*71c.54delTDeletion - Frameshift
SLC43A3ENSG00000134802ENST00000395123p.F422fs*10c.1260_1261insCACTCInsertion - Frameshift
KIAA1731ENSG00000166004ENST00000411936p.E2173Kc.6517G>ASubstitution - Missense
UGT3A1ENSG00000145626ENST00000333811p.L59Qc.176T>ASubstitution - Missense
JARID2ENSG00000008083ENST00000541660p.Q76Hc.228A>CSubstitution - Missense
MUC12ENSG00000205277ENST00000379442p.N3350Nc.10050C>TSubstitution - coding silent
RNGTTENSG00000111880ENST00000369475p.A230Ac.690T>CSubstitution - coding silent
DGKBENSG00000136267ENST00000258767p.?c.829+9A>CUnknown
DGKIENSG00000157680ENST00000424189p.H984Rc.2951A>GSubstitution - Missense
PODXLENSG00000128567ENST00000541194p.P543Lc.1628C>TSubstitution - Missense
PODXLENSG00000128567ENST00000537928p.P509Lc.1526C>TSubstitution - Missense
KMT2CENSG00000055609ENST00000262189p.H365Qc.1095C>GSubstitution - Missense
GSNENSG00000148180ENST00000436847p.T327Nc.980C>ASubstitution - Missense
GSNENSG00000148180ENST00000436847p.V658Ic.1972G>ASubstitution - Missense
ADAMTSL2ENSG00000197859ENST00000393061p.H656Hc.1968C>TSubstitution - coding silent
GBA2ENSG00000070610ENST00000545786p.M9Lc.25A>CSubstitution - Missense
ATP1B4ENSG00000101892ENST00000218008p.Q29Hc.87G>TSubstitution - Missense
SLC2A9ENSG00000109667ENST00000264784p.R517Rc.1551G>ASubstitution - coding silent
ARHGAP32ENSG00000134909ENST00000310343p.D1774Nc.5320G>ASubstitution - Missense
CCAR1ENSG00000060339ENST00000265872p.L53Fc.157C>TSubstitution - Missense
ENST00000426033p.R584Wc.1750C>TSubstitution - Missense
SYT17ENSG00000103528ENST00000355377p.T76Tc.228G>ASubstitution - coding silent
KIAA0586ENSG00000100578ENST00000261244p.K94fs*11c.280_286delAAAGACGDeletion - Frameshift
ZNF507ENSG00000168813ENST00000355898p.K38Nc.114A>CSubstitution - Missense
SEZ6ENSG00000063015ENST00000317338p.E137Gc.410A>GSubstitution - Missense
ITGB2ENSG00000160255ENST00000397852p.T661Tc.1983C>ASubstitution - coding silent
ZNF320ENSG00000182986ENST00000391781p.E158Ec.474G>ASubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.P2322Lc.6965C>TSubstitution - Missense
NM_006904p.I1414Vc.4240A>GSubstitution - Missense
BRAT1ENSG00000106009ENST00000340611p.Y560Yc.1680T>CSubstitution - coding silent
ANKZF1ENSG00000163516ENST00000323348p.L141Sc.422T>CSubstitution - Missense
CNTN6ENSG00000134115ENST00000446702p.D608Nc.1822G>ASubstitution - Missense
CD3EAPENSG00000117877ENST00000309424p.T182Kc.545C>ASubstitution - Missense
NM_002439.1p.Y227Sc.680A>CSubstitution - Missense
ASB10ENSG00000146926ENST00000420175p.A75Vc.224C>TSubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.M802Ic.2406G>ASubstitution - Missense
PELOENSG00000152684ENST00000274311p.S52Cc.155C>GSubstitution - Missense
TENM1ENSG00000009694ENST00000422452p.E541*c.1621G>TSubstitution - Nonsense
MMS19ENSG00000155229ENST00000438925p.S219Sc.657C>TSubstitution - coding silent
DISC1ENSG00000162946ENST00000317586p.L128Fc.384G>TSubstitution - Missense
XRRA1ENSG00000166435ENST00000340360p.A763Ac.2289G>ASubstitution - coding silent
FTH1ENSG00000167996ENST00000273550p.?c.114+3G>AUnknown
C19orf38ENSG00000214212ENST00000397820p.A81Vc.242C>TSubstitution - Missense
ENST00000377734p.Q61Qc.183A>GSubstitution - coding silent
DNAJC28ENSG00000177692ENST00000314399p.N219Sc.656A>GSubstitution - Missense
KRT33BENSG00000131738ENST00000251646p.S92Sc.276T>ASubstitution - coding silent
TTNENSG00000155657ENST00000342175p.R13919Ic.41756G>TSubstitution - Missense
KLC4ENSG00000137171ENST00000394056p.E228Kc.682G>ASubstitution - Missense
SAP130ENSG00000136715ENST00000259235p.T129Mc.386C>TSubstitution - Missense
ENST00000409686p.I79Tc.236T>CSubstitution - Missense
ASB10ENSG00000146926ENST00000422024p.A120Vc.359C>TSubstitution - Missense
DDCENSG00000132437ENST00000380984p.R39Rc.115C>ASubstitution - coding silent
SAMD1ENSG00000141858ENST00000533683p.P279Lc.836C>TSubstitution - Missense
DBNDD2ENSG00000244274ENST00000372720p.G256Ac.767G>CSubstitution - Missense
RAD51AP1ENSG00000111247ENST00000228843p.L154fs*71c.459delTDeletion - Frameshift
CCDC12ENSG00000160799ENST00000425441p.?c.135+5G>TUnknown
KMT2EENSG00000005483ENST00000257745p.D1022Gc.3065A>GSubstitution - Missense
LAMB1ENSG00000091136ENST00000222399p.M1327Ic.3981G>ASubstitution - Missense
DGKBENSG00000136267ENST00000403951p.?c.829+9A>CUnknown
ASB10ENSG00000146926ENST00000275838p.A75Vc.224C>TSubstitution - Missense
COBLENSG00000106078ENST00000265136p.G1134Rc.3400G>ASubstitution - Missense
RSPO2ENSG00000147655ENST00000276659p.C145Sc.434G>CSubstitution - Missense
ENST00000533683_v68p.P279Lc.836C>TSubstitution - Missense
PKN1ENSG00000123143ENST00000342216p.S127Sc.381G>ASubstitution - coding silent
NWD1ENSG00000188039ENST00000339803p.P1160Hc.3479C>ASubstitution - Missense
NWD1ENSG00000188039ENST00000524140p.P1295Pc.3885T>CSubstitution - coding silent
NWD1ENSG00000188039ENST00000339803p.P1160Pc.3480T>CSubstitution - coding silent
NWD1ENSG00000188039ENST00000524140p.H301Qc.903C>ASubstitution - Missense
ZNF526ENSG00000167625ENST00000301215p.P176Rc.527C>GSubstitution - Missense
ZNF234ENSG00000263002ENST00000426739p.?c.236-10G>AUnknown
PLIN4ENSG00000167676ENST00000301286p.M730Ic.2190G>ASubstitution - Missense
PLIN4ENSG00000167676ENST00000301286p.G582Sc.1744G>ASubstitution - Missense
CTSAENSG00000064601ENST00000372484p.?c.923+2T>CUnknown
CHIC2ENSG00000109220ENST00000263921p.S137Rc.411C>GSubstitution - Missense
PI4KAENSG00000241973ENST00000572273p.A1000Tc.2998G>ASubstitution - Missense
SCN1AENSG00000144285ENST00000303395p.F1831Fc.5493T>CSubstitution - coding silent
XIRP2ENSG00000163092ENST00000295237p.P2785Ac.8353C>GSubstitution - Missense
ENST00000317826p.V280Gc.839T>GSubstitution - Missense
NM_138995p.?c.1919-9T>GUnknown
GSNENSG00000148180ENST00000373818p.T367Nc.1100C>ASubstitution - Missense
GSNENSG00000148180ENST00000373823p.T316Nc.947C>ASubstitution - Missense
LURAP1LENSG00000153714ENST00000319264p.L174Pc.521T>CSubstitution - Missense
FAM78AENSG00000126882ENST00000464831p.I4Ic.12T>CSubstitution - coding silent
LAMC3ENSG00000050555ENST00000361069p.P565Tc.1693C>ASubstitution - Missense
ADAM29ENSG00000168594ENST00000359240p.R804Sc.2412G>CSubstitution - Missense
CLDN24ENSG00000185758ENST00000541814p.P31Sc.91C>TSubstitution - Missense
CDKN2AIPENSG00000168564ENST00000504169p.A55Tc.163G>ASubstitution - Missense
VEGFCENSG00000150630ENST00000280193p.R312Kc.935G>ASubstitution - Missense
NM_018248.1p.N58_D59insNc.168_169insAATInsertion - In frame
LCP2ENSG00000043462ENST00000046794p.D503Yc.1507G>TSubstitution - Missense
NNTENSG00000112992ENST00000264663p.S627Sc.1881G>ASubstitution - coding silent
FGF10ENSG00000070193ENST00000264664p.L27Lc.79C>TSubstitution - coding silent
NOTCH4ENSG00000204301ENST00000375023p.L1377Hc.4130T>ASubstitution - Missense
POLR1CENSG00000171453ENST00000372389p.R50Hc.149G>ASubstitution - Missense
POLR1CENSG00000171453ENST00000304004p.R50Hc.149G>ASubstitution - Missense
UHRF1BP1ENSG00000065060ENST00000192788p.L1193Mc.3577C>ASubstitution - Missense
GSTA4ENSG00000170899ENST00000370959p.E168Gc.503A>GSubstitution - Missense
VWA2ENSG00000165816ENST00000392982p.A394Vc.1181C>TSubstitution - Missense
PDXDC1ENSG00000179889ENST00000396410p.A427Ac.1281G>ASubstitution - coding silent
ENST00000454161p.R593Wc.1777C>TSubstitution - Missense
ARMC4ENSG00000169126ENST00000545014p.R191Pc.572G>CSubstitution - Missense
ENST00000425287p.S98Rc.294C>ASubstitution - Missense
MYBPC3ENSG00000134571ENST00000545968p.P694Qc.2081C>ASubstitution - Missense
MCF2LENSG00000126217ENST00000434480p.E230Kc.688G>ASubstitution - Missense
ANKS1BENSG00000185046ENST00000329257p.D480Gc.1439A>GSubstitution - Missense
SPRR1AENSG00000169474ENST00000368762p.P46Pc.138T>GSubstitution - coding silent
SPRR1AENSG00000169474ENST00000368762p.K52Kc.156A>GSubstitution - coding silent
CAMSAP2ENSG00000118200ENST00000236925p.S317Lc.950C>TSubstitution - Missense
NFIAENSG00000162599ENST00000371191p.P44Pc.132C>ASubstitution - coding silent
RAI1ENSG00000108557ENST00000261641p.S378Sc.1134C>TSubstitution - coding silent
SDK2ENSG00000069188ENST00000392650p.D1777Dc.5331C>TSubstitution - coding silent
SMARCD2ENSG00000108604ENST00000323347p.R321Hc.962G>ASubstitution - Missense
MAST3ENSG00000099308ENST00000262811p.Y446Yc.1338C>TSubstitution - coding silent
UNC13AENSG00000130477ENST00000252773p.E63Gc.188A>GSubstitution - Missense
MPNDENSG00000008382ENST00000359935p.R290Qc.869G>ASubstitution - Missense
GNB1LENSG00000185838ENST00000405009p.R117Qc.350G>ASubstitution - Missense
ENST00000466655p.H110Yc.328C>TSubstitution - Missense
CLASP1ENSG00000074054ENST00000455322p.G1186Ec.3557G>ASubstitution - Missense
CLASP1ENSG00000074054ENST00000397587p.G1170Ec.3509G>ASubstitution - Missense
SCN1AENSG00000144285ENST00000423058p.F1831Fc.5493T>CSubstitution - coding silent
TULP1ENSG00000112041ENST00000229771p.?c.499+1G>TUnknown
FASTKD3ENSG00000124279ENST00000264669p.R590fs*2c.1768delADeletion - Frameshift
ACTL6BENSG00000077080ENST00000160382p.P231Pc.693C>ASubstitution - coding silent
KLC4ENSG00000137171ENST00000458460p.E228Kc.682G>ASubstitution - Missense
ZNF716ENSG00000182111ENST00000420713p.E121Kc.361G>ASubstitution - Missense
ZNF716ENSG00000182111ENST00000420713p.E121Kc.361G>ASubstitution - Missense
ZNF273ENSG00000198039ENST00000476120p.G27Gc.81A>GSubstitution - coding silent
ZNF107ENSG00000196247ENST00000395391p.Q507Qc.1521A>GSubstitution - coding silent
COL28A1ENSG00000215018ENST00000399429p.?c.1440+4A>GUnknown
ENST00000222857p.R41fs*34c.116_117insCInsertion - Frameshift
POM121ENSG00000196313ENST00000395270p.I764Tc.2291T>CSubstitution - Missense
MAN1B1ENSG00000177239ENST00000371589p.R561Qc.1682G>ASubstitution - Missense
VSIG4ENSG00000155659ENST00000374737p.G395Sc.1183G>ASubstitution - Missense
UNC13AENSG00000130477ENST00000428389p.E151Gc.452A>GSubstitution - Missense
UNC13AENSG00000130477ENST00000519716p.E63Gc.188A>GSubstitution - Missense
LRG1ENSG00000171236ENST00000306390p.E277Kc.829G>ASubstitution - Missense
KIAA0556ENSG00000047578ENST00000261588p.D1017Nc.3049G>ASubstitution - Missense
POTEIENSG00000196834ENST00000451531p.V152Vc.456C>TSubstitution - coding silent
ENST00000451531_v68p.V152Vc.456C>TSubstitution - coding silent
LRP1BENSG00000168702ENST00000389484p.P3331Pc.9993A>TSubstitution - coding silent
GOLGB1ENSG00000173230ENST00000340645p.L2743Sc.8228T>CSubstitution - Missense
MAP9ENSG00000164114ENST00000311277p.L381Mc.1141T>ASubstitution - Missense
STIM2ENSG00000109689ENST00000237364p.H621Hc.1863C>TSubstitution - coding silent
FBN2ENSG00000138829ENST00000508053p.I2316Ic.6948C>TSubstitution - coding silent
FBN2ENSG00000138829ENST00000262464p.I2316Ic.6948C>TSubstitution - coding silent
SLC25A48ENSG00000145832ENST00000420621p.A281Vc.842C>TSubstitution - Missense
PCDH11YENSG00000099715ENST00000333703p.G193Rc.577G>ASubstitution - Missense
PCDH11YENSG00000099715ENST00000215473p.G204Rc.610G>ASubstitution - Missense
SYNGR1ENSG00000100321ENST00000381535p.P192Pc.576G>ASubstitution - coding silent
AK9ENSG00000155085ENST00000424296p.R1402Hc.4205G>ASubstitution - Missense
KPNA5ENSG00000196911ENST00000368564p.V84delVc.247_249delGTTDeletion - In frame
CAGE1ENSG00000164304ENST00000296742p.Q495Hc.1485G>TSubstitution - Missense
DSPENSG00000096696ENST00000379802p.F1057Vc.3169T>GSubstitution - Missense
DSPENSG00000096696ENST00000379802p.?c.1_2insAUnknown
ANKS6ENSG00000165138ENST00000353234p.D353Ec.1059C>ASubstitution - Missense
ENST00000237177p.T667Tc.2001T>CSubstitution - coding silent
MDN1ENSG00000112159ENST00000369393p.D4787_E4790delDEEEc.14361_14372del12Deletion - In frame
ENSG00000272514ENST00000369562p.I322Vc.964A>GSubstitution - Missense
ENST00000296885p.I322Vc.964A>GSubstitution - Missense
SLFN11ENSG00000172716ENST00000394566p.K253Kc.759G>ASubstitution - coding silent
SLFN13ENSG00000154760ENST00000285013p.Q93Qc.279G>ASubstitution - coding silent
NM_002311.2p.H708Yc.2122C>TSubstitution - Missense
CEBPZENSG00000115816ENST00000234170p.R470Qc.1409G>ASubstitution - Missense
SRSF7ENSG00000115875ENST00000313117p.I166Lc.496A>CSubstitution - Missense
C2orf61ENSG00000239605ENST00000294947p.A45Tc.133G>ASubstitution - Missense
JUPENSG00000173801ENST00000393930p.L415Lc.1245C>TSubstitution - coding silent
G6PCENSG00000131482ENST00000253801p.L155fs*10c.461delTDeletion - Frameshift
UBTFENSG00000108312ENST00000302904p.?c.1953+9_1953+10insGGAGCUnknown
CACNA1GENSG00000006283ENST00000359106p.S688Sc.2064A>GSubstitution - coding silent
CACNA1GENSG00000006283ENST00000354983p.S688Sc.2064A>GSubstitution - coding silent
CACNA1GENSG00000006283ENST00000416767p.S688Sc.2064A>GSubstitution - coding silent
CACNA1GENSG00000006283ENST00000359106p.S688Sc.2064A>GSubstitution - coding silent
BZRAP1ENSG00000005379ENST00000355701p.R1355Rc.4063C>ASubstitution - coding silent
LPOENSG00000167419ENST00000262290p.L575Pc.1724T>CSubstitution - Missense
MAGENSG00000105695ENST00000392213p.P438Pc.1314G>ASubstitution - coding silent
ENST00000396877p.T92Tc.276G>ASubstitution - coding silent
ADCK4ENSG00000123815ENST00000324464p.R201Rc.603G>ASubstitution - coding silent
MTM1ENSG00000171100ENST00000370396p.G293*c.877G>TSubstitution - Nonsense
TCOF1ENSG00000070814ENST00000504761p.E415Kc.1243G>ASubstitution - Missense
PCDHB14ENSG00000120327ENST00000239449p.C754Fc.2261G>TSubstitution - Missense
FAM114A2ENSG00000055147ENST00000351797p.?c.210+7C>GUnknown
OR2H2ENSG00000204657ENST00000383640p.W221Lc.662G>TSubstitution - Missense
DHX16ENSG00000204560ENST00000376442p.S488*c.1463C>GSubstitution - Nonsense
DHX16ENSG00000204560ENST00000376442p.S488*c.1463C>GSubstitution - Nonsense
CARFENSG00000138380ENST00000320443p.A685Ac.2055T>ASubstitution - coding silent
CARFENSG00000138380ENST00000320443p.L686Fc.2056C>TSubstitution - Missense
ASXL2ENSG00000143970ENST00000272341p.V816Vc.2448C>TSubstitution - coding silent
DNMT3AENSG00000119772ENST00000321117p.S62Sc.186C>TSubstitution - coding silent
TMEM186ENSG00000184857ENST00000333050p.P157Pc.471C>TSubstitution - coding silent
TCFL5ENSG00000101190ENST00000217162p.G45Sc.133G>ASubstitution - Missense
HELZ2ENSG00000130589ENST00000467148p.I1523Vc.4567A>GSubstitution - Missense
RFPL3ENSG00000128276ENST00000249007p.R240Hc.719G>ASubstitution - Missense
RFPL3ENSG00000128276ENST00000397468p.R211Hc.632G>ASubstitution - Missense
SLC5A1ENSG00000100170ENST00000266088p.P584Pc.1752T>GSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.P2386Lc.7157C>TSubstitution - Missense
ENST00000405167p.T2708Tc.8124C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T2571Tc.7713A>CSubstitution - coding silent
ENST00000405167p.T2571Tc.7713A>CSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T2708Tc.8124C>TSubstitution - coding silent
MUC4ENSG00000145113ENST00000463781p.T2783Nc.8348C>ASubstitution - Missense
ENST00000405167p.T2783Kc.8348C>ASubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.T3268Tc.9804C>TSubstitution - coding silent
ENST00000405167p.P2386Lc.7157C>TSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S1045Gc.3133A>GSubstitution - Missense
ENST00000405167p.S1045Gc.3133A>GSubstitution - Missense
MUC4ENSG00000145113ENST00000463781p.S1658Sc.4974C>TSubstitution - coding silent
ENST00000405167p.S1658Sc.4974C>TSubstitution - coding silent
OR5H15ENSG00000233412ENST00000356526p.H54Hc.162C>TSubstitution - coding silent
OR5H15ENSG00000233412ENST00000356526p.N83Ic.248A>TSubstitution - Missense
OR5H15ENSG00000233412ENST00000356526p.N83Nc.249T>CSubstitution - coding silent
PTPN13ENSG00000163629ENST00000436978p.E710Qc.2128G>CSubstitution - Missense
ADAM9ENSG00000168615ENST00000487273p.L241Lc.723C>ASubstitution - coding silent
PRKDCENSG00000253729ENST00000314191p.I1413Vc.4237A>GSubstitution - Missense
SPIDRENSG00000164808ENST00000297423p.P403Lc.1208C>TSubstitution - Missense
CASKENSG00000147044ENST00000378166p.S577Pc.1729T>CSubstitution - Missense
PRICKLE3ENSG00000012211ENST00000376317p.H522_N523insHHc.1549_1550insATCACCInsertion - In frame
NM_014501.1p.N97Nc.291C>TSubstitution - coding silent
ZSCAN18ENSG00000121413ENST00000240727p.A341Tc.1021G>ASubstitution - Missense
ENST00000316893p.G510Cc.1528G>TSubstitution - Missense
TGFBR2ENSG00000163513ENST00000359013p.R553Gc.1657C>GSubstitution - Missense
NM_003242p.R528Gc.1582C>GSubstitution - Missense
RLTPRENSG00000159753ENST00000334583p.?c.495-7C>TUnknown
GRM6ENSG00000113262ENST00000231188p.R498fs*34c.1492delADeletion - Frameshift
ENST00000328507p.F195Fc.585T>CSubstitution - coding silent
TIAM2ENSG00000146426ENST00000318981p.V814Fc.2440G>TSubstitution - Missense
TULP4ENSG00000130338ENST00000367097p.P635Pc.1905G>ASubstitution - coding silent
CHST12ENSG00000136213ENST00000258711p.V181Mc.541G>ASubstitution - Missense
SAP130ENSG00000136715ENST00000357702p.T129Mc.386C>TSubstitution - Missense
SAP130ENSG00000136715ENST00000259235p.I576Tc.1727T>CSubstitution - Missense
SU_SPEGp.S3190Sc.9570C>TSubstitution - coding silent
ARMC9ENSG00000135931ENST00000349938p.S281Nc.842G>ASubstitution - Missense
ENST00000359743p.S281Nc.842G>ASubstitution - Missense
ARMC9ENSG00000135931ENST00000349938p.S281Sc.843C>TSubstitution - coding silent
ENST00000359743p.S281Sc.843C>TSubstitution - coding silent
GPR55ENSG00000135898ENST00000392039p.P193Lc.578C>TSubstitution - Missense
ENST00000344062p.F85Yc.254T>ASubstitution - Missense
NDUFA6ENSG00000184983ENST00000498737p.M1Kc.2T>ASubstitution - Missense
MEI1ENSG00000167077ENST00000300398p.I585Ic.1755C>TSubstitution - coding silent
ENST00000358511_v70p.F1848Lc.5542T>CSubstitution - Missense
PLXND1ENSG00000004399ENST00000324093p.?c.3246-5C>TUnknown
PHF21BENSG00000056487ENST00000313237p.?c.565-8C>TUnknown
ENSG00000073169ENST00000380903p.A573Tc.1717G>ASubstitution - Missense
TOPAZ1ENSG00000173769ENST00000309765p.P97_R98insSDPc.280_281insCGTCAGACCInsertion - In frame
TOPAZ1ENSG00000173769ENST00000309765p.P97_R98insSDPc.280_281insCGTCAGACCInsertion - In frame
TOPAZ1ENSG00000173769ENST00000309765p.R98*c.292C>TSubstitution - Nonsense
TOPAZ1ENSG00000173769ENST00000309765p.R98*c.292C>TSubstitution - Nonsense
F2RL1ENSG00000164251ENST00000296677p.V236Lc.706G>CSubstitution - Missense
FGD2ENSG00000146192ENST00000274963p.D311Ec.933C>ASubstitution - Missense
BCORL1ENSG00000085185ENST00000218147p.V1389Vc.4167C>TSubstitution - coding silent
NOX1ENSG00000007952ENST00000372966p.A486Sc.1456G>TSubstitution - Missense
NM_004085.2p.Q75Ec.223C>GSubstitution - Missense
FRMPD3ENSG00000147234ENST00000276185p.S518Sc.1554C>TSubstitution - coding silent
ATPAF2ENSG00000171953ENST00000474627p.R265Hc.794G>ASubstitution - Missense
TOM1L2ENSG00000175662ENST00000379504p.H83Yc.247C>TSubstitution - Missense
RAI1ENSG00000108557ENST00000353383p.S378Sc.1134C>TSubstitution - coding silent
NCOR1ENSG00000141027ENST00000268712p.P7Pc.21T>ASubstitution - coding silent
TNFSF12-TNFSF13ENSG00000248871ENST00000293826p.T129Kc.386C>ASubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.S915Rc.2745C>ASubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.E1083Kc.3247G>ASubstitution - Missense
ZNF208ENSG00000160321ENST00000397126p.E955Kc.2863G>ASubstitution - Missense
ENST00000428290_v65p.E955Kc.2863G>ASubstitution - Missense
PLEKHF1ENSG00000166289ENST00000436066p.G40Sc.118G>ASubstitution - Missense
TBC1D17ENSG00000104946ENST00000221543p.L399Lc.1195C>TSubstitution - coding silent
KLK14ENSG00000129437ENST00000391802p.?c.652-5C>TUnknown
NM_022046.3p.?c.604-5C>TUnknown
SLC4A11ENSG00000088836ENST00000380056p.K370Rc.1109A>GSubstitution - Missense
CTCFLENSG00000124092ENST00000243914p.T479Ac.1435A>GSubstitution - Missense
PODXLENSG00000128567ENST00000378555p.P541Lc.1622C>TSubstitution - Missense
PLXNA4ENSG00000221866ENST00000321063p.S689Yc.2066C>ASubstitution - Missense
GBA2ENSG00000070610ENST00000378094p.M9Lc.25A>CSubstitution - Missense
TMF1ENSG00000144747ENST00000398559p.A847Vc.2540C>TSubstitution - Missense
SCARA5ENSG00000168079ENST00000524352p.P392Pc.1176G>ASubstitution - coding silent
CSMD1ENSG00000183117ENST00000537824p.Q2305Rc.6914A>GSubstitution - Missense
CCDC144NLENSG00000205212ENST00000327925p.L72Lc.216C>GSubstitution - coding silent
SPECC1ENSG00000128487ENST00000395527p.D318Nc.952G>ASubstitution - Missense
ENST00000425519p.R77Rc.231C>TSubstitution - coding silent
ENST00000328585_v65p.A56Ac.168C>ASubstitution - coding silent
ABCA7ENSG00000064687ENST00000263094p.M1588Vc.4762A>GSubstitution - Missense
DOCK6ENSG00000130158ENST00000319867p.P393Pc.1179C>ASubstitution - coding silent
MUM1ENSG00000160953ENST00000344663p.?c.217+9G>AUnknown
RRP1BENSG00000160208ENST00000340648p.P586Pc.1758C>TSubstitution - coding silent
RSPH1ENSG00000160188ENST00000291536p.T133Mc.398C>TSubstitution - Missense
ANKRD36CENSG00000174501ENST00000456556p.R1059Sc.3177A>TSubstitution - Missense
ENST00000420871_v68p.R310Sc.930A>TSubstitution - Missense
ANKRD36CENSG00000174501ENST00000420871p.R310Sc.930A>TSubstitution - Missense
ROBO2ENSG00000185008ENST00000487694p.?c.715+1G>AUnknown
TMPRSS11AENSG00000187054ENST00000334830p.R368Rc.1102A>CSubstitution - coding silent
IGJENSG00000132465ENST00000254801p.D25Gc.74A>GSubstitution - Missense
PPLENSG00000118898ENST00000345988p.T1126Tc.3378C>TSubstitution - coding silent
KRTAP4-7ENSG00000240871ENST00000391417p.Q61Qc.183A>GSubstitution - coding silent
KRTAP4-7ENSG00000240871ENST00000391417p.C65Cc.195T>CSubstitution - coding silent
TIAM1ENSG00000156299ENST00000286827p.V117Ic.349G>ASubstitution - Missense
TIAM1ENSG00000156299ENST00000286827p.V117Ic.349G>ASubstitution - Missense
USP19ENSG00000172046ENST00000434032p.M1083Lc.3247A>TSubstitution - Missense
GLYCTKENSG00000168237ENST00000436784p.F493Cc.1478T>GSubstitution - Missense
NISCHENSG00000010322ENST00000345716p.H42Pc.125A>CSubstitution - Missense
DLL1ENSG00000198719ENST00000366756p.Q250Qc.750G>ASubstitution - coding silent
HIST1H2BEENSG00000197697ENST00000356530p.M60Ic.180G>ASubstitution - Missense
DGKIENSG00000157680ENST00000288490p.H981Rc.2942A>GSubstitution - Missense
DGKIENSG00000157680ENST00000288490p.H981Rc.2942A>GSubstitution - Missense
RPL8ENSG00000161016ENST00000394920p.P108Lc.323C>TSubstitution - Missense
MC4RENSG00000166603ENST00000299766p.G39Ec.116G>ASubstitution - Missense
ANKRD62ENSG00000181626ENST00000314074p.S440Sc.1320C>TSubstitution - coding silent
C21orf58ENSG00000160298ENST00000291691p.?c.722-7C>TUnknown
ENSG00000091436ENST00000338983p.D443delDc.1312_1314delGATDeletion - In frame
DYNC1I2ENSG00000077380ENST00000397119p.?c.1390_1392-3del858Unknown
VSNL1ENSG00000163032ENST00000295156p.L16Lc.46C>TSubstitution - coding silent
TTNENSG00000155657ENST00000342992p.R20224Ic.60671G>TSubstitution - Missense
TTNENSG00000155657ENST00000359218p.R13852Ic.41555G>TSubstitution - Missense
NM_003319p.R13727Ic.41180G>TSubstitution - Missense
CASP10ENSG00000003400ENST00000286186p.?c.722-4C>AUnknown
CASP10ENSG00000003400ENST00000272879p.?c.722-4C>AUnknown
FBXO42ENSG00000037637ENST00000375592p.E49*c.145G>TSubstitution - Nonsense
CALCAENSG00000110680ENST00000331587p.L32Vc.94C>GSubstitution - Missense
CALCAENSG00000110680ENST00000331587p.A31Pc.91G>CSubstitution - Missense
CALCAENSG00000110680ENST00000361010p.A31Pc.91G>CSubstitution - Missense
HPS5ENSG00000110756ENST00000349215p.R29Wc.85C>TSubstitution - Missense
OTOGENSG00000188162ENST00000399397p.D1943Dc.5829C>TSubstitution - coding silent
ARHGEF10LENSG00000074964ENST00000361221p.N1051Sc.3152A>GSubstitution - Missense
ARHGEF10LENSG00000074964ENST00000361221p.N1051Sc.3152A>GSubstitution - Missense
IL10RAENSG00000110324ENST00000227752p.P338Tc.1012C>ASubstitution - Missense
ATMENSG00000149311ENST00000278616p.Q1361Rc.4082A>GSubstitution - Missense
MUC2ENSG00000198788ENST00000441003p.P1949Pc.5847G>ASubstitution - coding silent
CELSR2ENSG00000143126ENST00000271332p.D2728Dc.8184C>TSubstitution - coding silent
TRDMT1ENSG00000107614ENST00000377799p.Q51fs*7c.151_152delCADeletion - Frameshift
ACBD7ENSG00000176244ENST00000356189p.?c.13-10C>TUnknown
ACBD7ENSG00000176244ENST00000356189p.?c.13-9T>CUnknown
ARMC4ENSG00000169126ENST00000305242p.R666Pc.1997G>CSubstitution - Missense
MESP2ENSG00000188095ENST00000341735p.H241Hc.723C>TSubstitution - coding silent
UNC45AENSG00000140553ENST00000418476p.?c.520-1G>CUnknown
LRRTM3ENSG00000198739ENST00000361320p.S287fs*38c.858delTDeletion - Frameshift
UNC5BENSG00000107731ENST00000335350p.G575Vc.1724G>TSubstitution - Missense
TBATAENSG00000166220ENST00000299290p.Q338Hc.1014G>TSubstitution - Missense
HKDC1ENSG00000156510ENST00000354624p.H420Qc.1260C>ASubstitution - Missense
INPP5BENSG00000204084ENST00000373026p.Q435Qc.1305G>ASubstitution - coding silent
C1orf50ENSG00000164008ENST00000536543p.V195fs*17c.583delGDeletion - Frameshift
C1orf228ENSG00000198520ENST00000458657p.L142Lc.426C>ASubstitution - coding silent
KDM2BENSG00000089094ENST00000377069p.P982Ac.2944C>GSubstitution - Missense
NM_032590.2p.P690Ac.2068C>GSubstitution - Missense
DUTENSG00000128951ENST00000455976p.?c.155+3G>CUnknown
ADAMTS17ENSG00000140470ENST00000268070p.A407Gc.1220C>GSubstitution - Missense
LDHAL6BENSG00000171989ENST00000307144p.S323fs*4c.964_965insTTInsertion - Frameshift
MYO1EENSG00000157483ENST00000288235p.I489Tc.1466T>CSubstitution - Missense
KIAA1731ENSG00000166004ENST00000325212p.E2173Kc.6517G>ASubstitution - Missense
ABCB9ENSG00000150967ENST00000392439p.D184Nc.550G>ASubstitution - Missense
ULK1ENSG00000177169ENST00000321867p.E842Ec.2526G>ASubstitution - coding silent
TAS1R1ENSG00000173662ENST00000333172p.A775Vc.2324C>TSubstitution - Missense
SH3GLB1ENSG00000097033ENST00000482504p.D336Yc.1006G>TSubstitution - Missense
ENST00000212369p.D315Yc.943G>TSubstitution - Missense
KIAA0586ENSG00000100578ENST00000354386p.K106fs*11c.316_322delAAAGACGDeletion - Frameshift
PPM1AENSG00000100614ENST00000325642p.A76Tc.226G>ASubstitution - Missense
KCNK10ENSG00000100433ENST00000319231p.R227*c.679C>TSubstitution - Nonsense
KCNK10ENSG00000100433ENST00000340700p.R222*c.664C>TSubstitution - Nonsense
CSNK1G1ENSG00000169118ENST00000303052p.?c.182-7C>GUnknown
NM_022048p.?c.182-7C>GUnknown
HERC1ENSG00000103657ENST00000443617p.S1662Gc.4984A>GSubstitution - Missense
MCF2LENSG00000126217ENST00000375601p.E228Kc.682G>ASubstitution - Missense
MCF2LENSG00000126217ENST00000375608p.E254Kc.760G>ASubstitution - Missense
ENST00000414268p.D138_W139delDWc.412_417delGACTGGDeletion - In frame
UGT3A1ENSG00000145626ENST00000274278p.L113Qc.338T>ASubstitution - Missense
RAD1ENSG00000113456ENST00000382038p.H214Hc.642T>CSubstitution - coding silent
FYBENSG00000082074ENST00000351578p.G525Rc.1573G>ASubstitution - Missense
FYBENSG00000082074ENST00000512982p.G525Rc.1573G>ASubstitution - Missense
WDR59ENSG00000103091ENST00000262144p.K466Ec.1396A>GSubstitution - Missense
CCDC78ENSG00000162004ENST00000293889p.R223Hc.668G>ASubstitution - Missense
OSGIN1ENSG00000140961ENST00000343939p.R388Cc.1162C>TSubstitution - Missense
NFE2L1ENSG00000082641ENST00000362042p.A756Vc.2267C>TSubstitution - Missense
SLC35B1ENSG00000121073ENST00000240333p.I58Tc.173T>CSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.S5940Sc.17820A>GSubstitution - coding silent
ENST00000331986p.S1573Sc.4719A>GSubstitution - coding silent
MUC16ENSG00000181143ENST00000397910p.T215Nc.644C>ASubstitution - Missense
ENST00000376987p.Q92Hc.276A>CSubstitution - Missense
CRYGCENSG00000163254ENST00000282141p.F6Sc.17T>CSubstitution - Missense
TNS1ENSG00000079308ENST00000171887p.Q659_P660insQQc.1950_1951insCAGCAGInsertion - In frame
OPRK1ENSG00000082556ENST00000265572p.H291Qc.873C>ASubstitution - Missense
ATP1B4ENSG00000101892ENST00000361319p.Q29Hc.87G>TSubstitution - Missense
RAC1ENSG00000136238ENST00000348035p.P29Sc.85C>TSubstitution - Missense
MUC16ENSG00000181143ENST00000397910p.A3485Vc.10454C>TSubstitution - Missense
SPAG17ENSG00000155761ENST00000336338p.Q1045Kc.3133C>ASubstitution - Missense
GYG1ENSG00000163754ENST00000345003p.?c.143+1G>AUnknown
BAP1ENSG00000163930ENST00000460680p.?c.438-19_441del23Unknown
ENST00000298715p.A394Vc.1181C>TSubstitution - Missense
CATSPERBENSG00000133962ENST00000256343p.K1113Tc.3338A>CSubstitution - Missense
ENST00000265050p.F7Fc.21C>TSubstitution - coding silent
NM_003077.2p.R313Hc.938G>ASubstitution - Missense
A2MENSG00000175899ENST00000318602p.S873Sc.2619C>TSubstitution - coding silent
MPNDENSG00000008382ENST00000262966p.R340Qc.1019G>ASubstitution - Missense
EFCC1ENSG00000114654ENST00000480450p.F444Fc.1332C>TSubstitution - coding silent
CR1ENSG00000203710ENST00000400960p.G1268Cc.3802G>TSubstitution - Missense
KCTD3ENSG00000136636ENST00000259154p.R624Gc.1870C>GSubstitution - Missense
KRT76ENSG00000185069ENST00000332411p.T427Mc.1280C>TSubstitution - Missense
PDE1BENSG00000123360ENST00000243052p.P200Lc.599C>TSubstitution - Missense
ITGA5ENSG00000161638ENST00000293379p.T573Sc.1718C>GSubstitution - Missense
MAN2C1ENSG00000140400ENST00000267978p.G386Sc.1156G>ASubstitution - Missense
PARD3ENSG00000148498ENST00000374789p.I462Vc.1384A>GSubstitution - Missense
DNAH14ENSG00000185842ENST00000430092p.E3242Gc.9725A>GSubstitution - Missense
POLR3AENSG00000148606ENST00000372371p.R582Hc.1745G>ASubstitution - Missense
WAPALENSG00000062650ENST00000298767p.I58Lc.172A>CSubstitution - Missense
OR52I2ENSG00000226288ENST00000312614p.D8Dc.24T>CSubstitution - coding silent
MYBPC3ENSG00000134571ENST00000399249p.P694Qc.2081C>ASubstitution - Missense
NCAPD2ENSG00000010292ENST00000315579p.Q959*c.2875C>TSubstitution - Nonsense
OBSCNENSG00000154358ENST00000570156p.R4062Rc.12186G>ASubstitution - coding silent
SU_OBSCN.1p.R3932Rc.11796G>ASubstitution - coding silent
DISC1ENSG00000162946ENST00000366633p.L128Fc.384G>TSubstitution - Missense
ENST00000366638p.L128Fc.384G>TSubstitution - Missense
EP400NLENSG00000185684ENST00000376625p.R140Hc.419G>ASubstitution - Missense
FBXL14ENSG00000171823ENST00000339235p.R401*c.1201C>TSubstitution - Nonsense
CACNA1CENSG00000151067ENST00000347598p.A34Ac.102G>ASubstitution - coding silent
CACNA1CENSG00000151067ENST00000344100p.A34Ac.102G>ASubstitution - coding silent
NTRK3ENSG00000140538ENST00000394480p.V451Ic.1351G>ASubstitution - Missense
ARAP1ENSG00000186635ENST00000393609p.?c.1416+3G>TUnknown
ARAP1ENSG00000186635ENST00000334211p.?c.681+3G>TUnknown
ARAP1ENSG00000186635ENST00000393609p.E472Kc.1414G>ASubstitution - Missense
ARAP1ENSG00000186635ENST00000334211p.E227Kc.679G>ASubstitution - Missense
TENM4ENSG00000149256ENST00000278550p.R1561Rc.4681C>ASubstitution - coding silent
ENST00000368577p.G417Sc.1249G>ASubstitution - Missense
ARHGEF40ENSG00000165801ENST00000298694p.T1116Tc.3348G>ASubstitution - coding silent
ARHGEF40ENSG00000165801ENST00000298694p.R1505Lc.4514G>TSubstitution - Missense
MDP1ENSG00000213920ENST00000288087p.F121delFc.360_362delCTTDeletion - In frame
CD5ENSG00000110448ENST00000347785p.Q34*c.100C>TSubstitution - Nonsense
NTN4ENSG00000074527ENST00000343702p.P210Lc.629C>TSubstitution - Missense
ANKS1BENSG00000185046ENST00000547776p.D480Gc.1439A>GSubstitution - Missense
NM_130398.2p.C608Fc.1823G>TSubstitution - Missense
XM_370575.3p.?c.314+6G>AUnknown
PANX1ENSG00000110218ENST00000227638p.A86Ac.258G>ASubstitution - coding silent
GTPBP4ENSG00000107937ENST00000360803p.L493Lc.1479G>ASubstitution - coding silent
C12orf40ENSG00000180116ENST00000398716p.F360Ic.1078T>ASubstitution - Missense
RAD51AP1ENSG00000111247ENST00000352618p.L137fs*71c.408delTDeletion - Frameshift
SLC38A1ENSG00000111371ENST00000398637p.V198Vc.594G>ASubstitution - coding silent
BRCA2ENSG00000139618ENST00000544455p.S2590Cc.7769C>GSubstitution - Missense
BRCA2ENSG00000139618ENST00000380152p.S2590Cc.7769C>GSubstitution - Missense
ENST00000340225p.N8Nc.24C>TSubstitution - coding silent
NCDNENSG00000020129ENST00000373243p.I447Ic.1341C>TSubstitution - coding silent
NCDNENSG00000020129ENST00000373253p.I430Ic.1290C>TSubstitution - coding silent
ENST00000335883p.P503fs*10c.1508delCDeletion - Frameshift


COSMIC

5 mutations reported
4 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
BAP1ENSG00000163930ENST00000460680p.?c.438-19_441del23Unknown22321046
CTNNB1ENSG00000168036ENST00000349496p.?c.?_?del?Unknown11437403
BAP1ENSG00000163930ENST00000460680p.?c.438-24_438-2delUnknown21642991
CTNNB1ENSG00000168036ENST00000349496p.?c.?_?del?Unknown11464291
VHLENSG00000134086ENST00000256474p.L89Hc.266T>ASubstitution - Missense8183553