Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 211529792 211529792 + Silent SNP T T A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 g.chr1:211529792T>A c.360T>A c.(358-360)gtT>gtA p.V120V BLCA 1 211533413 211533413 + Missense_Mutation SNP C C A TCGA-DK-A6B1-01A-12D-A30E-08 TCGA-DK-A6B1-10A-01D-A30H-08 g.chr1:211533413C>A c.538C>A c.(538-540)Cta>Ata p.L180I BRCA 1 211526585 211526585 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 g.chr1:211526585G>C c.4G>C c.(4-6)Gct>Cct p.A2P BRCA 1 211526623 211526623 + Silent SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr1:211526623C>T c.42C>T c.(40-42)ttC>ttT p.F14F BRCA 1 211545615 211545615 + Missense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr1:211545615G>A c.1245G>A c.(1243-1245)atG>atA p.M415I BRCA 1 211545718 211545718 + Frame_Shift_Del DEL G G - TCGA-E2-A15S-01A-11D-A10Y-09 TCGA-E2-A15S-10A-01D-A110-09 g.chr1:211545718delG c.1348delG c.(1348-1350)gggfs p.G450fs CESC 1 211545904 211545904 + Missense_Mutation SNP G G C TCGA-DS-A0VM-01A-11D-A10S-08 TCGA-DS-A0VM-10A-01D-A10S-08 g.chr1:211545904G>C c.1534G>C c.(1534-1536)Gat>Cat p.D512H CHOL 1 211533365 211533365 + Nonsense_Mutation SNP C C T TCGA-W5-AA2H-01A-31D-A417-09 TCGA-W5-AA2H-10A-01D-A41A-09 g.chr1:211533365C>T c.490C>T c.(490-492)Cga>Tga p.R164* COAD 1 211529734 211529734 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:211529734G>T c.302G>T c.(301-303)aGa>aTa p.R101I COAD 1 211533308 211533308 + Silent SNP C C A TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr1:211533308C>A c.433C>A c.(433-435)Cgg>Agg p.R145R COAD 1 211533309 211533309 + Missense_Mutation SNP G G A TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr1:211533309G>A c.434G>A c.(433-435)cGg>cAg p.R145Q COAD 1 211533309 211533309 + Missense_Mutation SNP G G A TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr1:211533309G>A c.434G>A c.(433-435)cGg>cAg p.R145Q COAD 1 211533309 211533309 + Missense_Mutation SNP G G A TCGA-G4-6323-01A-11D-1719-10 TCGA-G4-6323-10A-01D-1720-10 g.chr1:211533309G>A c.434G>A c.(433-435)cGg>cAg p.R145Q COAD 1 211533309 211533309 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:211533309G>A c.434G>A c.(433-435)cGg>cAg p.R145Q COAD 1 211533365 211533365 + Nonsense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:211533365C>T c.490C>T c.(490-492)Cga>Tga p.R164* COAD 1 211533366 211533366 + Missense_Mutation SNP G G T TCGA-AA-A02Y-01A-43W-A096-10 TCGA-AA-A02Y-10A-01W-A096-10 g.chr1:211533366G>T c.491G>T c.(490-492)cGa>cTa p.R164L COAD 1 211534100 211534100 + Silent SNP G G A TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr1:211534100G>A c.600G>A c.(598-600)gcG>gcA p.A200A COAD 1 211534447 211534447 + Silent SNP T T G TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr1:211534447T>G c.639T>G c.(637-639)gcT>gcG p.A213A COAD 1 211534503 211534503 + Splice_Site SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:211534503C>T c.695C>T c.(694-696)aCg>aTg p.T232M COAD 1 211538772 211538772 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:211538772C>T c.751C>T c.(751-753)Cgt>Tgt p.R251C COAD 1 211545524 211545524 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr1:211545524C>T c.1154C>T c.(1153-1155)gCa>gTa p.A385V COAD 1 211545629 211545629 + Missense_Mutation SNP C C T TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr1:211545629C>T c.1259C>T c.(1258-1260)gCg>gTg p.A420V COADREAD 1 211529734 211529734 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:211529734G>T c.302G>T c.(301-303)aGa>aTa p.R101I COADREAD 1 211533308 211533308 + Silent SNP C C A TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr1:211533308C>A c.433C>A c.(433-435)Cgg>Agg p.R145R COADREAD 1 211533309 211533309 + Missense_Mutation SNP G G A TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr1:211533309G>A c.434G>A c.(433-435)cGg>cAg p.R145Q COADREAD 1 211533309 211533309 + Missense_Mutation SNP G G A TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr1:211533309G>A c.434G>A c.(433-435)cGg>cAg p.R145Q COADREAD 1 211533309 211533309 + Missense_Mutation SNP G G A TCGA-G4-6323-01A-11D-1719-10 TCGA-G4-6323-10A-01D-1720-10 g.chr1:211533309G>A c.434G>A c.(433-435)cGg>cAg p.R145Q COADREAD 1 211533309 211533309 + Missense_Mutation SNP G G A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr1:211533309G>A c.434G>A c.(433-435)cGg>cAg p.R145Q COADREAD 1 211533365 211533365 + Nonsense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr1:211533365C>T c.490C>T c.(490-492)Cga>Tga p.R164* COADREAD 1 211533366 211533366 + Missense_Mutation SNP G G T TCGA-AA-A02Y-01A-43W-A096-10 TCGA-AA-A02Y-10A-01W-A096-10 g.chr1:211533366G>T c.491G>T c.(490-492)cGa>cTa p.R164L COADREAD 1 211534100 211534100 + Silent SNP G G A TCGA-AA-3554-01A-01W-0833-10 TCGA-AA-3554-10A-01W-0833-10 g.chr1:211534100G>A c.600G>A c.(598-600)gcG>gcA p.A200A COADREAD 1 211534447 211534447 + Silent SNP T T G TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr1:211534447T>G c.639T>G c.(637-639)gcT>gcG p.A213A COADREAD 1 211534503 211534503 + Splice_Site SNP C C T TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr1:211534503C>T c.695C>T c.(694-696)aCg>aTg p.T232M COADREAD 1 211538772 211538772 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:211538772C>T c.751C>T c.(751-753)Cgt>Tgt p.R251C COADREAD 1 211542888 211542888 + Missense_Mutation SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:211542888T>C c.884T>C c.(883-885)tTt>tCt p.F295S COADREAD 1 211545524 211545524 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr1:211545524C>T c.1154C>T c.(1153-1155)gCa>gTa p.A385V COADREAD 1 211545629 211545629 + Missense_Mutation SNP C C T TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr1:211545629C>T c.1259C>T c.(1258-1260)gCg>gTg p.A420V COADREAD 1 211545787 211545787 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:211545787C>A c.1417C>A c.(1417-1419)Ctg>Atg p.L473M ESCA 1 211526731 211526731 + Silent SNP G G A TCGA-LN-A7HX-01A-11D-A33E-09 TCGA-LN-A7HX-10A-01D-A33H-09 g.chr1:211526731G>A c.150G>A c.(148-150)tcG>tcA p.S50S ESCA 1 211533401 211533401 + Missense_Mutation SNP G G T TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chr1:211533401G>T c.526G>T c.(526-528)Gta>Tta p.V176L ESCA 1 211545598 211545598 + Missense_Mutation SNP G G A TCGA-L5-A4OW-01A-11D-A28B-09 TCGA-L5-A4OW-11A-11D-A28E-09 g.chr1:211545598G>A c.1228G>A c.(1228-1230)Gtg>Atg p.V410M ESCA 1 211545734 211545734 + Frame_Shift_Del DEL G G - TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr1:211545734delG c.1364delG c.(1363-1365)aggfs p.R455fs GBMLGG 1 211526628 211526628 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 g.chr1:211526628G>A c.47G>A c.(46-48)cGc>cAc p.R16H GBMLGG 1 211533282 211533282 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:211533282C>T c.407C>T c.(406-408)cCt>cTt p.P136L GBMLGG 1 211544684 211544684 + Missense_Mutation SNP C C T TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 g.chr1:211544684C>T c.971C>T c.(970-972)gCt>gTt p.A324V HNSC 1 211534067 211534067 + Silent SNP T T C TCGA-CV-7097-01A-11D-2012-08 TCGA-CV-7097-10A-01D-2013-08 g.chr1:211534067T>C c.567T>C c.(565-567)ccT>ccC p.P189P HNSC 1 211545470 211545470 + Splice_Site SNP C C A TCGA-CR-7385-01A-11D-2012-08 TCGA-CR-7385-10A-01D-2013-08 g.chr1:211545470C>A c.1100C>A c.(1099-1101)gCc>gAc p.A367D KIPAN 1 211542827 211542827 + Missense_Mutation SNP G G A TCGA-CJ-6030-01A-11D-1669-08 TCGA-CJ-6030-11A-01D-1669-08 g.chr1:211542827G>A c.823G>A c.(823-825)Gaa>Aaa p.E275K KIPAN 1 211545632 211545632 + Missense_Mutation SNP T T A TCGA-BP-4158-01A-02D-1366-10 TCGA-BP-4158-11A-01D-1366-10 g.chr1:211545632T>A c.1262T>A c.(1261-1263)gTg>gAg p.V421E KIPAN 1 211545849 211545849 + Silent SNP G G A TCGA-BP-5182-01A-01D-1429-08 TCGA-BP-5182-11A-01D-1429-08 g.chr1:211545849G>A c.1479G>A c.(1477-1479)aaG>aaA p.K493K KIPAN 1 211545865 211545865 + Missense_Mutation SNP T T A TCGA-CJ-4918-01A-01D-1429-08 TCGA-CJ-4918-11A-01D-1429-08 g.chr1:211545865T>A c.1495T>A c.(1495-1497)Ttc>Atc p.F499I KIPAN 1 211545951 211545952 + Frame_Shift_Ins INS - - C TCGA-G7-6796-01A-11D-1961-08 TCGA-G7-6796-10A-01D-1962-08 g.chr1:211545951_211545952insC c.1581_1582insC c.(1582-1584)tctfs p.S528fs KIRC 1 211542827 211542827 + Missense_Mutation SNP G G A TCGA-CJ-6030-01A-11D-1669-08 TCGA-CJ-6030-11A-01D-1669-08 g.chr1:211542827G>A c.823G>A c.(823-825)Gaa>Aaa p.E275K KIRC 1 211545632 211545632 + Missense_Mutation SNP T T A TCGA-BP-4158-01A-02D-1366-10 TCGA-BP-4158-11A-01D-1366-10 g.chr1:211545632T>A c.1262T>A c.(1261-1263)gTg>gAg p.V421E KIRC 1 211545849 211545849 + Silent SNP G G A TCGA-BP-5182-01A-01D-1429-08 TCGA-BP-5182-11A-01D-1429-08 g.chr1:211545849G>A c.1479G>A c.(1477-1479)aaG>aaA p.K493K KIRC 1 211545865 211545865 + Missense_Mutation SNP T T A TCGA-CJ-4918-01A-01D-1429-08 TCGA-CJ-4918-11A-01D-1429-08 g.chr1:211545865T>A c.1495T>A c.(1495-1497)Ttc>Atc p.F499I KIRP 1 211545951 211545952 + Frame_Shift_Ins INS - - C TCGA-G7-6796-01A-11D-1961-08 TCGA-G7-6796-10A-01D-1962-08 g.chr1:211545951_211545952insC c.1581_1582insC c.(1582-1584)tctfs p.S528fs LGG 1 211526628 211526628 + Missense_Mutation SNP G G A TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 g.chr1:211526628G>A c.47G>A c.(46-48)cGc>cAc p.R16H LGG 1 211533282 211533282 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:211533282C>T c.407C>T c.(406-408)cCt>cTt p.P136L LGG 1 211544684 211544684 + Missense_Mutation SNP C C T TCGA-S9-A6UB-01A-21D-A33T-08 TCGA-S9-A6UB-10A-01D-A33W-08 g.chr1:211544684C>T c.971C>T c.(970-972)gCt>gTt p.A324V LIHC 1 211526743 211526743 + Frame_Shift_Del DEL C C - TCGA-DD-A3A0-01A-11D-A20W-10 TCGA-DD-A3A0-11A-11D-A20W-10 g.chr1:211526743delC c.162delC c.(160-162)aacfs p.N54fs LIHC 1 211545809 211545809 + Missense_Mutation SNP A A G TCGA-NI-A4U2-01A-11D-A28X-10 TCGA-NI-A4U2-10A-01D-A28X-10 g.chr1:211545809A>G c.1439A>G c.(1438-1440)cAg>cGg p.Q480R LUAD 1 211526639 211526639 + Missense_Mutation SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr1:211526639G>T c.58G>T c.(58-60)Ggc>Tgc p.G20C LUAD 1 211526711 211526711 + Nonsense_Mutation SNP A A T TCGA-69-7760-01A-11D-2167-08 TCGA-69-7760-10A-01D-2167-08 g.chr1:211526711A>T c.130A>T c.(130-132)Aaa>Taa p.K44* LUAD 1 211529716 211529716 + Missense_Mutation SNP A A C TCGA-17-Z050-01A-01W-0747-08 TCGA-17-Z050-11A-01W-0747-08 g.chr1:211529716A>C c.284A>C c.(283-285)aAa>aCa p.K95T LUAD 1 211529722 211529722 + Missense_Mutation SNP A A G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chr1:211529722A>G c.290A>G c.(289-291)aAt>aGt p.N97S LUAD 1 211534059 211534059 + Silent SNP T T C TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr1:211534059T>C c.559T>C c.(559-561)Ttg>Ctg p.L187L LUAD 1 211545756 211545756 + Silent SNP C C T TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr1:211545756C>T c.1386C>T c.(1384-1386)taC>taT p.Y462Y LUAD 1 211545842 211545842 + Missense_Mutation SNP G G T TCGA-MP-A4TA-01A-21D-A24P-08 TCGA-MP-A4TA-10A-01D-A24P-08 g.chr1:211545842G>T c.1472G>T c.(1471-1473)gGc>gTc p.G491V LUSC 1 211527758 211527758 + Missense_Mutation SNP A A T TCGA-22-5472-01A-01D-1632-08 TCGA-22-5472-11A-11D-1632-08 g.chr1:211527758A>T c.225A>T c.(223-225)ttA>ttT p.L75F LUSC 1 211533358 211533358 + Nonsense_Mutation SNP T T A TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr1:211533358T>A c.483T>A c.(481-483)tgT>tgA p.C161* OV 1 211533308 211533308 + Missense_Mutation SNP C C G TCGA-36-1571-01A-01W-0615-10 TCGA-36-1571-10A-01W-0615-10 g.chr1:211533308C>G c.433C>G c.(433-435)Cgg>Ggg p.R145G OV 1 211545789 211545789 + Silent SNP G G T TCGA-36-2552-01A-01D-1526-09 TCGA-36-2552-10A-01D-1526-09 g.chr1:211545789G>T c.1419G>T c.(1417-1419)ctG>ctT p.L473L PAAD 1 211534067 211534067 + Silent SNP T T C TCGA-3A-A9IC-01A-11D-A38G-08 TCGA-3A-A9IC-10A-01D-A38J-08 g.chr1:211534067T>C c.567T>C c.(565-567)ccT>ccC p.P189P PAAD 1 211545602 211545602 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:211545602C>T c.1232C>T c.(1231-1233)aCa>aTa p.T411I PRAD 1 211534503 211534503 + Splice_Site SNP C C T TCGA-FC-7708-01A-11D-2114-08 TCGA-FC-7708-10A-01D-2115-08 g.chr1:211534503C>T c.695C>T c.(694-696)aCg>aTg p.T232M READ 1 211542888 211542888 + Missense_Mutation SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:211542888T>C c.884T>C c.(883-885)tTt>tCt p.F295S READ 1 211545787 211545787 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:211545787C>A c.1417C>A c.(1417-1419)Ctg>Atg p.L473M SKCM 1 211526699 211526699 + Missense_Mutation SNP G G A TCGA-D3-A2JH-06A-11D-A196-08 TCGA-D3-A2JH-10A-01D-A198-08 g.chr1:211526699G>A c.118G>A c.(118-120)Gaa>Aaa p.E40K SKCM 1 211529807 211529807 + Silent SNP C C T TCGA-EE-A2ME-06A-11D-A197-08 TCGA-EE-A2ME-10A-01D-A199-08 g.chr1:211529807C>T c.375C>T c.(373-375)taC>taT p.Y125Y SKCM 1 211534078 211534078 + Missense_Mutation SNP T T A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr1:211534078T>A c.578T>A c.(577-579)gTa>gAa p.V193E SKCM 1 211538796 211538796 + Nonsense_Mutation SNP C C T TCGA-ER-A19M-06A-61D-A23B-08 TCGA-ER-A19M-10A-01D-A23B-08 g.chr1:211538796C>T c.775C>T c.(775-777)Caa>Taa p.Q259* SKCM 1 211545679 211545679 + Missense_Mutation SNP C C G TCGA-ER-A19B-06A-11D-A196-08 TCGA-ER-A19B-10A-01D-A198-08 g.chr1:211545679C>G c.1309C>G c.(1309-1311)Cgc>Ggc p.R437G SKCM 1 211545679 211545679 + Missense_Mutation SNP C C T TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr1:211545679C>T c.1309C>T c.(1309-1311)Cgc>Tgc p.R437C SKCM 1 211545749 211545749 + Missense_Mutation SNP C C T TCGA-EE-A17X-06A-11D-A197-08 TCGA-EE-A17X-10A-01D-A199-08 g.chr1:211545749C>T c.1379C>T c.(1378-1380)tCc>tTc p.S460F SKCM 1 211545936 211545936 + Silent SNP C C T TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr1:211545936C>T c.1566C>T c.(1564-1566)ccC>ccT p.P522P SKCM 1 211545937 211545937 + Missense_Mutation SNP C C T TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr1:211545937C>T c.1567C>T c.(1567-1569)Cgc>Tgc p.R523C SKCM 1 211545968 211545968 + Missense_Mutation SNP C C T TCGA-FS-A1ZD-06A-11D-A197-08 TCGA-FS-A1ZD-10A-01D-A199-08 g.chr1:211545968C>T c.1598C>T c.(1597-1599)gCc>gTc p.A533V

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 1 211529792 211529792 single base substitution T A downstream_gene_variant BLCA-US 1 211529792 211529792 single base substitution T A exon_variant BLCA-US 1 211529792 211529792 single base substitution T A synonymous_variant V120V 360T>A BOCA-FR 1 211530187 211530187 single base substitution G A downstream_gene_variant BOCA-FR 1 211530187 211530187 single base substitution G A exon_variant BOCA-FR 1 211530187 211530187 single base substitution G A intron_variant BRCA-EU 1 211494967 211494967 single base substitution A G upstream_gene_variant BRCA-EU 1 211495575 211495575 single base substitution T C upstream_gene_variant BRCA-EU 1 211495633 211495633 single base substitution G T upstream_gene_variant BRCA-EU 1 211496415 211496415 single base substitution G C upstream_gene_variant BRCA-EU 1 211496499 211496499 single base substitution G A upstream_gene_variant BRCA-EU 1 211497635 211497635 single base substitution C T upstream_gene_variant BRCA-EU 1 211498796 211498796 single base substitution C A upstream_gene_variant BRCA-EU 1 211499652 211499652 single base substitution G A upstream_gene_variant BRCA-EU 1 211500972 211500972 insertion of <=200bp - G intron_variant BRCA-EU 1 211501027 211501027 single base substitution C T intron_variant BRCA-EU 1 211501109 211501109 single base substitution T A intron_variant BRCA-EU 1 211501139 211501139 single base substitution G A intron_variant BRCA-EU 1 211501279 211501279 single base substitution G T intron_variant BRCA-EU 1 211503326 211503326 single base substitution G A intron_variant BRCA-EU 1 211503527 211503527 single base substitution T A intron_variant BRCA-EU 1 211503543 211503543 single base substitution G C intron_variant BRCA-EU 1 211503876 211503876 single base substitution C T intron_variant BRCA-EU 1 211504475 211504475 single base substitution C G intron_variant BRCA-EU 1 211504880 211504880 single base substitution C G intron_variant BRCA-EU 1 211505567 211505567 single base substitution G A intron_variant BRCA-EU 1 211505620 211505620 single base substitution C G intron_variant BRCA-EU 1 211505696 211505696 single base substitution G C intron_variant BRCA-EU 1 211506454 211506454 single base substitution A T intron_variant BRCA-EU 1 211506675 211506675 single base substitution C T intron_variant BRCA-EU 1 211506852 211506852 deletion of <=200bp T - intron_variant BRCA-EU 1 211507515 211507515 single base substitution C G intron_variant BRCA-EU 1 211509095 211509095 single base substitution A G intron_variant BRCA-EU 1 211509321 211509321 deletion of <=200bp T - intron_variant BRCA-EU 1 211510048 211510048 single base substitution C A intron_variant BRCA-EU 1 211511403 211511403 single base substitution G A intron_variant BRCA-EU 1 211511772 211511772 single base substitution C A intron_variant BRCA-EU 1 211511975 211511975 deletion of <=200bp T - intron_variant BRCA-EU 1 211511975 211511975 insertion of <=200bp - T intron_variant BRCA-EU 1 211512998 211512998 single base substitution G A intron_variant BRCA-EU 1 211515254 211515254 single base substitution C G intron_variant BRCA-EU 1 211515254 211515254 single base substitution C G upstream_gene_variant BRCA-EU 1 211516438 211516438 single base substitution A C intron_variant BRCA-EU 1 211516438 211516438 single base substitution A C upstream_gene_variant BRCA-EU 1 211518582 211518582 single base substitution G C intron_variant BRCA-EU 1 211518582 211518582 single base substitution G C upstream_gene_variant BRCA-EU 1 211521313 211521313 single base substitution C T intron_variant BRCA-EU 1 211526797 211526797 single base substitution G A exon_variant BRCA-EU 1 211526797 211526797 single base substitution G A splice_region_variant BRCA-EU 1 211527018 211527018 single base substitution A G downstream_gene_variant BRCA-EU 1 211527018 211527018 single base substitution A G intron_variant BRCA-EU 1 211529524 211529524 single base substitution A C downstream_gene_variant BRCA-EU 1 211529524 211529524 single base substitution A C intron_variant BRCA-EU 1 211530288 211530288 single base substitution C T downstream_gene_variant BRCA-EU 1 211530288 211530288 single base substitution C T exon_variant BRCA-EU 1 211530288 211530288 single base substitution C T intron_variant BRCA-EU 1 211531616 211531616 single base substitution G C downstream_gene_variant BRCA-EU 1 211531616 211531616 single base substitution G C exon_variant BRCA-EU 1 211531616 211531616 single base substitution G C intron_variant BRCA-EU 1 211532027 211532027 single base substitution G A exon_variant BRCA-EU 1 211532027 211532027 single base substitution G A intron_variant BRCA-EU 1 211532397 211532397 single base substitution T G exon_variant BRCA-EU 1 211532397 211532397 single base substitution T G intron_variant BRCA-EU 1 211532405 211532405 single base substitution C G exon_variant BRCA-EU 1 211532405 211532405 single base substitution C G intron_variant BRCA-EU 1 211534022 211534022 single base substitution T C exon_variant BRCA-EU 1 211534022 211534022 single base substitution T C intron_variant BRCA-EU 1 211534436 211534436 single base substitution G A exon_variant BRCA-EU 1 211534436 211534436 single base substitution G A intron_variant BRCA-EU 1 211534436 211534436 single base substitution G A missense_variant E210K 628G>A BRCA-EU 1 211534503 211534503 single base substitution C T downstream_gene_variant BRCA-EU 1 211534503 211534503 single base substitution C T intron_variant BRCA-EU 1 211534503 211534503 single base substitution C T missense_variant T232M 695C>T BRCA-EU 1 211534503 211534503 single base substitution C T splice_region_variant BRCA-EU 1 211536218 211536218 insertion of <=200bp - G downstream_gene_variant BRCA-EU 1 211536218 211536218 insertion of <=200bp - G intron_variant BRCA-EU 1 211536218 211536218 single base substitution G A downstream_gene_variant BRCA-EU 1 211536218 211536218 single base substitution G A intron_variant BRCA-EU 1 211536948 211536948 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 211536948 211536948 deletion of <=200bp A - intron_variant BRCA-EU 1 211536995 211536995 single base substitution G C downstream_gene_variant BRCA-EU 1 211536995 211536995 single base substitution G C intron_variant BRCA-EU 1 211537704 211537704 single base substitution G C downstream_gene_variant BRCA-EU 1 211537704 211537704 single base substitution G C intron_variant BRCA-EU 1 211537704 211537704 single base substitution G C upstream_gene_variant BRCA-EU 1 211540466 211540466 single base substitution G C downstream_gene_variant BRCA-EU 1 211540466 211540466 single base substitution G C intron_variant BRCA-EU 1 211540466 211540466 single base substitution G C upstream_gene_variant BRCA-EU 1 211540772 211540772 single base substitution G T downstream_gene_variant BRCA-EU 1 211540772 211540772 single base substitution G T intron_variant BRCA-EU 1 211540772 211540772 single base substitution G T upstream_gene_variant BRCA-EU 1 211541058 211541058 single base substitution G A downstream_gene_variant BRCA-EU 1 211541058 211541058 single base substitution G A intron_variant BRCA-EU 1 211541058 211541058 single base substitution G A upstream_gene_variant BRCA-EU 1 211541278 211541278 single base substitution A G downstream_gene_variant BRCA-EU 1 211541278 211541278 single base substitution A G intron_variant BRCA-EU 1 211541278 211541278 single base substitution A G upstream_gene_variant BRCA-EU 1 211542219 211542219 single base substitution G A downstream_gene_variant BRCA-EU 1 211542219 211542219 single base substitution G A intron_variant BRCA-EU 1 211542219 211542219 single base substitution G A upstream_gene_variant BRCA-EU 1 211542403 211542403 single base substitution C A downstream_gene_variant BRCA-EU 1 211542403 211542403 single base substitution C A exon_variant BRCA-EU 1 211542403 211542403 single base substitution C A intron_variant BRCA-EU 1 211542418 211542418 single base substitution C G downstream_gene_variant BRCA-EU 1 211542418 211542418 single base substitution C G exon_variant BRCA-EU 1 211542418 211542418 single base substitution C G intron_variant BRCA-EU 1 211542777 211542777 single base substitution C T downstream_gene_variant BRCA-EU 1 211542777 211542777 single base substitution C T exon_variant BRCA-EU 1 211542777 211542777 single base substitution C T intron_variant BRCA-EU 1 211544255 211544255 single base substitution T C intron_variant BRCA-EU 1 211546005 211546005 single base substitution G C exon_variant BRCA-EU 1 211546005 211546005 single base substitution G C missense_variant L439F 1317G>C BRCA-EU 1 211546005 211546005 single base substitution G C missense_variant L545F 1635G>C BRCA-EU 1 211546282 211546282 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 211546282 211546282 single base substitution G A downstream_gene_variant BRCA-EU 1 211546282 211546282 single base substitution G A exon_variant BRCA-EU 1 211546977 211546977 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 1 211546977 211546977 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 211546977 211546977 deletion of <=200bp A - exon_variant BRCA-EU 1 211547086 211547086 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 1 211547086 211547086 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 211547086 211547086 deletion of <=200bp T - exon_variant BRCA-EU 1 211547273 211547273 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 211547273 211547273 single base substitution C T downstream_gene_variant BRCA-EU 1 211547273 211547273 single base substitution C T exon_variant BRCA-EU 1 211550597 211550597 single base substitution G T downstream_gene_variant BRCA-EU 1 211550812 211550812 single base substitution C T downstream_gene_variant BRCA-EU 1 211551255 211551255 single base substitution C A downstream_gene_variant BRCA-EU 1 211551978 211551978 single base substitution G A downstream_gene_variant BRCA-EU 1 211552395 211552395 single base substitution C G downstream_gene_variant BRCA-EU 1 211552648 211552648 single base substitution G T downstream_gene_variant BRCA-EU 1 211553150 211553150 single base substitution C T downstream_gene_variant BRCA-FR 1 211495575 211495575 single base substitution T C upstream_gene_variant BRCA-FR 1 211501279 211501279 single base substitution G T intron_variant BRCA-FR 1 211501900 211501900 single base substitution A G intron_variant BRCA-FR 1 211512998 211512998 single base substitution G A intron_variant BRCA-FR 1 211515254 211515254 single base substitution C G intron_variant BRCA-FR 1 211515254 211515254 single base substitution C G upstream_gene_variant BRCA-FR 1 211521313 211521313 single base substitution C T intron_variant BRCA-FR 1 211532405 211532405 single base substitution C G exon_variant BRCA-FR 1 211532405 211532405 single base substitution C G intron_variant BRCA-FR 1 211549842 211549842 single base substitution C T downstream_gene_variant BRCA-FR 1 211550987 211550987 single base substitution C T downstream_gene_variant BRCA-UK 1 211506062 211506062 single base substitution G A intron_variant BRCA-UK 1 211510048 211510048 single base substitution C A intron_variant BRCA-UK 1 211526962 211526962 single base substitution G A downstream_gene_variant BRCA-UK 1 211526962 211526962 single base substitution G A intron_variant BRCA-UK 1 211536665 211536665 single base substitution C G downstream_gene_variant BRCA-UK 1 211536665 211536665 single base substitution C G intron_variant BRCA-UK 1 211550187 211550187 single base substitution G A downstream_gene_variant BRCA-US 1 211526585 211526585 single base substitution G C exon_variant BRCA-US 1 211526585 211526585 single base substitution G C missense_variant A2P 4G>C BRCA-US 1 211526623 211526623 single base substitution C T exon_variant BRCA-US 1 211526623 211526623 single base substitution C T synonymous_variant F14F 42C>T BRCA-US 1 211533168 211533168 single base substitution C A exon_variant BRCA-US 1 211533168 211533168 single base substitution C A intron_variant BRCA-US 1 211533923 211533923 single base substitution A G exon_variant BRCA-US 1 211533923 211533923 single base substitution A G intron_variant BRCA-US 1 211545615 211545615 single base substitution G A exon_variant BRCA-US 1 211545615 211545615 single base substitution G A missense_variant M309I 927G>A BRCA-US 1 211545615 211545615 single base substitution G A missense_variant M415I 1245G>A BRCA-US 1 211545718 211545718 deletion of <=200bp G - exon_variant BRCA-US 1 211545718 211545718 deletion of <=200bp G - frameshift_variant G344 BRCA-US 1 211545718 211545718 deletion of <=200bp G - frameshift_variant G450 BTCA-JP 1 211533953 211533953 single base substitution C T exon_variant BTCA-JP 1 211533953 211533953 single base substitution C T intron_variant BTCA-JP 1 211545810 211545810 single base substitution G T exon_variant BTCA-JP 1 211545810 211545810 single base substitution G T missense_variant Q374H 1122G>T BTCA-JP 1 211545810 211545810 single base substitution G T missense_variant Q480H 1440G>T CESC-US 1 211532937 211532937 single base substitution G A exon_variant CESC-US 1 211532937 211532937 single base substitution G A intron_variant CESC-US 1 211545904 211545904 single base substitution G C exon_variant CESC-US 1 211545904 211545904 single base substitution G C missense_variant D406H 1216G>C CESC-US 1 211545904 211545904 single base substitution G C missense_variant D512H 1534G>C CLLE-ES 1 211528819 211528819 single base substitution T A downstream_gene_variant CLLE-ES 1 211528819 211528819 single base substitution T A intron_variant COAD-US 1 211533365 211533365 single base substitution C T exon_variant COAD-US 1 211533365 211533365 single base substitution C T intron_variant COAD-US 1 211533365 211533365 single base substitution C T stop_gained R164* 490C>T COAD-US 1 211534503 211534503 single base substitution C T downstream_gene_variant COAD-US 1 211534503 211534503 single base substitution C T intron_variant COAD-US 1 211534503 211534503 single base substitution C T missense_variant T232M 695C>T COAD-US 1 211534503 211534503 single base substitution C T splice_region_variant COAD-US 1 211545524 211545524 single base substitution C T exon_variant COAD-US 1 211545524 211545524 single base substitution C T missense_variant A279V 836C>T COAD-US 1 211545524 211545524 single base substitution C T missense_variant A385V 1154C>T COCA-CN 1 211527740 211527740 single base substitution T G downstream_gene_variant COCA-CN 1 211527740 211527740 single base substitution T G intron_variant COCA-CN 1 211527763 211527763 single base substitution C T downstream_gene_variant COCA-CN 1 211527763 211527763 single base substitution C T exon_variant COCA-CN 1 211527763 211527763 single base substitution C T missense_variant T77I 230C>T COCA-CN 1 211527902 211527902 single base substitution G A downstream_gene_variant COCA-CN 1 211527902 211527902 single base substitution G A intron_variant COCA-CN 1 211533366 211533366 single base substitution G A exon_variant COCA-CN 1 211533366 211533366 single base substitution G A intron_variant COCA-CN 1 211533366 211533366 single base substitution G A missense_variant R164Q 491G>A COCA-CN 1 211534074 211534074 single base substitution C A exon_variant COCA-CN 1 211534074 211534074 single base substitution C A intron_variant COCA-CN 1 211534074 211534074 single base substitution C A missense_variant P192T 574C>A COCA-CN 1 211545344 211545344 single base substitution A G intron_variant COCA-CN 1 211545849 211545849 single base substitution G T exon_variant COCA-CN 1 211545849 211545849 single base substitution G T missense_variant K387N 1161G>T COCA-CN 1 211545849 211545849 single base substitution G T missense_variant K493N 1479G>T COCA-CN 1 211549112 211549112 single base substitution C T downstream_gene_variant EOPC-DE 1 211529351 211529351 single base substitution C A downstream_gene_variant EOPC-DE 1 211529351 211529351 single base substitution C A intron_variant EOPC-DE 1 211537493 211537493 single base substitution A G downstream_gene_variant EOPC-DE 1 211537493 211537493 single base substitution A G intron_variant EOPC-DE 1 211537493 211537493 single base substitution A G upstream_gene_variant ESAD-UK 1 211495422 211495422 single base substitution G A upstream_gene_variant ESAD-UK 1 211499376 211499376 single base substitution G A upstream_gene_variant ESAD-UK 1 211500916 211500916 single base substitution A T intron_variant ESAD-UK 1 211505435 211505435 single base substitution C A intron_variant ESAD-UK 1 211506549 211506549 single base substitution G A intron_variant ESAD-UK 1 211508884 211508884 single base substitution C T intron_variant ESAD-UK 1 211509413 211509413 single base substitution A G intron_variant ESAD-UK 1 211510252 211510252 single base substitution C T intron_variant ESAD-UK 1 211511209 211511209 single base substitution G C intron_variant ESAD-UK 1 211512641 211512641 single base substitution A C intron_variant ESAD-UK 1 211518148 211518148 single base substitution G T intron_variant ESAD-UK 1 211518148 211518148 single base substitution G T upstream_gene_variant ESAD-UK 1 211519126 211519126 single base substitution G A intron_variant ESAD-UK 1 211519126 211519126 single base substitution G A upstream_gene_variant ESAD-UK 1 211520511 211520511 single base substitution G T intron_variant ESAD-UK 1 211521089 211521089 single base substitution G A intron_variant ESAD-UK 1 211521312 211521312 single base substitution C T intron_variant ESAD-UK 1 211521313 211521313 single base substitution C T intron_variant ESAD-UK 1 211524870 211524870 single base substitution G T intron_variant ESAD-UK 1 211526306 211526306 single base substitution A G intron_variant ESAD-UK 1 211530336 211530336 single base substitution A T downstream_gene_variant ESAD-UK 1 211530336 211530336 single base substitution A T exon_variant ESAD-UK 1 211530336 211530336 single base substitution A T intron_variant ESAD-UK 1 211530855 211530855 single base substitution C A downstream_gene_variant ESAD-UK 1 211530855 211530855 single base substitution C A exon_variant ESAD-UK 1 211530855 211530855 single base substitution C A intron_variant ESAD-UK 1 211531438 211531438 single base substitution A C downstream_gene_variant ESAD-UK 1 211531438 211531438 single base substitution A C exon_variant ESAD-UK 1 211531438 211531438 single base substitution A C intron_variant ESAD-UK 1 211536040 211536040 single base substitution C A downstream_gene_variant ESAD-UK 1 211536040 211536040 single base substitution C A intron_variant ESAD-UK 1 211538487 211538487 single base substitution C T downstream_gene_variant ESAD-UK 1 211538487 211538487 single base substitution C T intron_variant ESAD-UK 1 211538487 211538487 single base substitution C T upstream_gene_variant ESAD-UK 1 211538536 211538536 single base substitution C G downstream_gene_variant ESAD-UK 1 211538536 211538536 single base substitution C G intron_variant ESAD-UK 1 211538536 211538536 single base substitution C G upstream_gene_variant ESAD-UK 1 211539510 211539510 single base substitution G A downstream_gene_variant ESAD-UK 1 211539510 211539510 single base substitution G A intron_variant ESAD-UK 1 211539510 211539510 single base substitution G A upstream_gene_variant ESAD-UK 1 211539546 211539546 single base substitution A C downstream_gene_variant ESAD-UK 1 211539546 211539546 single base substitution A C intron_variant ESAD-UK 1 211539546 211539546 single base substitution A C upstream_gene_variant ESAD-UK 1 211540188 211540188 single base substitution T C downstream_gene_variant ESAD-UK 1 211540188 211540188 single base substitution T C intron_variant ESAD-UK 1 211540188 211540188 single base substitution T C upstream_gene_variant ESAD-UK 1 211540584 211540584 single base substitution C T downstream_gene_variant ESAD-UK 1 211540584 211540584 single base substitution C T intron_variant ESAD-UK 1 211540584 211540584 single base substitution C T upstream_gene_variant ESAD-UK 1 211541757 211541757 single base substitution G C downstream_gene_variant ESAD-UK 1 211541757 211541757 single base substitution G C intron_variant ESAD-UK 1 211541757 211541757 single base substitution G C upstream_gene_variant ESAD-UK 1 211541979 211541979 single base substitution A G downstream_gene_variant ESAD-UK 1 211541979 211541979 single base substitution A G intron_variant ESAD-UK 1 211541979 211541979 single base substitution A G upstream_gene_variant ESAD-UK 1 211542983 211542983 single base substitution A T downstream_gene_variant ESAD-UK 1 211542983 211542983 single base substitution A T intron_variant ESAD-UK 1 211543224 211543224 single base substitution G A downstream_gene_variant ESAD-UK 1 211543224 211543224 single base substitution G A intron_variant ESAD-UK 1 211543233 211543233 single base substitution G A downstream_gene_variant ESAD-UK 1 211543233 211543233 single base substitution G A intron_variant ESAD-UK 1 211544290 211544290 single base substitution T C intron_variant ESAD-UK 1 211544801 211544801 single base substitution A G exon_variant ESAD-UK 1 211544801 211544801 single base substitution A G missense_variant D257G 770A>G ESAD-UK 1 211544801 211544801 single base substitution A G missense_variant D363G 1088A>G ESAD-UK 1 211544892 211544892 single base substitution T C intron_variant ESAD-UK 1 211545362 211545362 single base substitution C A intron_variant ESAD-UK 1 211546570 211546570 single base substitution A T 3_prime_UTR_variant ESAD-UK 1 211546570 211546570 single base substitution A T downstream_gene_variant ESAD-UK 1 211546570 211546570 single base substitution A T exon_variant ESAD-UK 1 211548206 211548206 single base substitution A G 3_prime_UTR_variant ESAD-UK 1 211548206 211548206 single base substitution A G downstream_gene_variant ESAD-UK 1 211549387 211549387 single base substitution T C downstream_gene_variant ESAD-UK 1 211552608 211552608 single base substitution G C downstream_gene_variant ESCA-CN 1 211529607 211529607 single base substitution A C downstream_gene_variant ESCA-CN 1 211529607 211529607 single base substitution A C intron_variant ESCA-CN 1 211533352 211533352 single base substitution A G exon_variant ESCA-CN 1 211533352 211533352 single base substitution A G intron_variant ESCA-CN 1 211533352 211533352 single base substitution A G synonymous_variant A159A 477A>G ESCA-CN 1 211534517 211534517 insertion of <=200bp - G downstream_gene_variant ESCA-CN 1 211534517 211534517 insertion of <=200bp - G intron_variant KIRC-US 1 211542827 211542827 single base substitution G A downstream_gene_variant KIRC-US 1 211542827 211542827 single base substitution G A exon_variant KIRC-US 1 211542827 211542827 single base substitution G A missense_variant E169K 505G>A KIRC-US 1 211542827 211542827 single base substitution G A missense_variant E275K 823G>A KIRC-US 1 211545632 211545632 single base substitution T A exon_variant KIRC-US 1 211545632 211545632 single base substitution T A missense_variant V315E 944T>A KIRC-US 1 211545632 211545632 single base substitution T A missense_variant V421E 1262T>A KIRC-US 1 211545849 211545849 single base substitution G A exon_variant KIRC-US 1 211545849 211545849 single base substitution G A synonymous_variant K387K 1161G>A KIRC-US 1 211545849 211545849 single base substitution G A synonymous_variant K493K 1479G>A KIRC-US 1 211545865 211545865 single base substitution T A exon_variant KIRC-US 1 211545865 211545865 single base substitution T A missense_variant F393I 1177T>A KIRC-US 1 211545865 211545865 single base substitution T A missense_variant F499I 1495T>A KIRP-US 1 211545951 211545951 insertion of <=200bp - C exon_variant KIRP-US 1 211545951 211545951 insertion of <=200bp - C frameshift_variant H421H? KIRP-US 1 211545951 211545951 insertion of <=200bp - C frameshift_variant H527H? LICA-CN 1 211538814 211538814 single base substitution A T downstream_gene_variant LICA-CN 1 211538814 211538814 single base substitution A T exon_variant LICA-CN 1 211538814 211538814 single base substitution A T splice_region_variant LICA-CN 1 211538814 211538814 single base substitution A T upstream_gene_variant LICA-CN 1 211542792 211542792 single base substitution A G downstream_gene_variant LICA-CN 1 211542792 211542792 single base substitution A G exon_variant LICA-CN 1 211542792 211542792 single base substitution A G splice_acceptor_variant LICA-CN 1 211545659 211545659 single base substitution G T exon_variant LICA-CN 1 211545659 211545659 single base substitution G T missense_variant S324I 971G>T LICA-CN 1 211545659 211545659 single base substitution G T missense_variant S430I 1289G>T LICA-CN 1 211545805 211545805 single base substitution A T exon_variant LICA-CN 1 211545805 211545805 single base substitution A T missense_variant R373W 1117A>T LICA-CN 1 211545805 211545805 single base substitution A T missense_variant R479W 1435A>T LICA-FR 1 211545623 211545623 single base substitution G T exon_variant LICA-FR 1 211545623 211545623 single base substitution G T missense_variant R312I 935G>T LICA-FR 1 211545623 211545623 single base substitution G T missense_variant R418I 1253G>T LICA-FR 1 211545738 211545738 single base substitution G A exon_variant LICA-FR 1 211545738 211545738 single base substitution G A synonymous_variant G350G 1050G>A LICA-FR 1 211545738 211545738 single base substitution G A synonymous_variant G456G 1368G>A LIHC-US 1 211545809 211545809 single base substitution A G exon_variant LIHC-US 1 211545809 211545809 single base substitution A G missense_variant Q374R 1121A>G LIHC-US 1 211545809 211545809 single base substitution A G missense_variant Q480R 1439A>G LINC-JP 1 211499754 211499754 single base substitution G T upstream_gene_variant LINC-JP 1 211500443 211500443 single base substitution G A intron_variant LINC-JP 1 211509062 211509062 single base substitution G A intron_variant LINC-JP 1 211513417 211513417 single base substitution G A intron_variant LINC-JP 1 211521144 211521144 single base substitution A G intron_variant LINC-JP 1 211528768 211528768 single base substitution T C downstream_gene_variant LINC-JP 1 211528768 211528768 single base substitution T C intron_variant LINC-JP 1 211542785 211542785 single base substitution T C downstream_gene_variant LINC-JP 1 211542785 211542785 single base substitution T C exon_variant LINC-JP 1 211542785 211542785 single base substitution T C intron_variant LIRI-JP 1 211497771 211497771 single base substitution C T upstream_gene_variant LIRI-JP 1 211502600 211502600 single base substitution A G intron_variant LIRI-JP 1 211503139 211503139 single base substitution T A intron_variant LIRI-JP 1 211505551 211505551 single base substitution A C intron_variant LIRI-JP 1 211506556 211506556 single base substitution A G intron_variant LIRI-JP 1 211508754 211508754 single base substitution G T intron_variant LIRI-JP 1 211509392 211509392 single base substitution G A intron_variant LIRI-JP 1 211511587 211511587 single base substitution A T intron_variant LIRI-JP 1 211512513 211512513 single base substitution A T intron_variant LIRI-JP 1 211512711 211512711 single base substitution G A intron_variant LIRI-JP 1 211514834 211514834 single base substitution C T intron_variant LIRI-JP 1 211514834 211514834 single base substitution C T upstream_gene_variant LIRI-JP 1 211515057 211515057 single base substitution T C intron_variant LIRI-JP 1 211515057 211515057 single base substitution T C upstream_gene_variant LIRI-JP 1 211516819 211516819 single base substitution A T intron_variant LIRI-JP 1 211516819 211516819 single base substitution A T upstream_gene_variant LIRI-JP 1 211519681 211519681 single base substitution C A intron_variant LIRI-JP 1 211519681 211519681 single base substitution C A upstream_gene_variant LIRI-JP 1 211521264 211521264 single base substitution A G intron_variant LIRI-JP 1 211523512 211523512 single base substitution A G intron_variant LIRI-JP 1 211526604 211526604 single base substitution A G exon_variant LIRI-JP 1 211526604 211526604 single base substitution A G missense_variant K8R 23A>G LIRI-JP 1 211531565 211531565 single base substitution A T downstream_gene_variant LIRI-JP 1 211531565 211531565 single base substitution A T exon_variant LIRI-JP 1 211531565 211531565 single base substitution A T intron_variant LIRI-JP 1 211534560 211534560 single base substitution A G downstream_gene_variant LIRI-JP 1 211534560 211534560 single base substitution A G intron_variant LIRI-JP 1 211538091 211538098 deletion of <=200bp ATATGGGA - downstream_gene_variant LIRI-JP 1 211538091 211538098 deletion of <=200bp ATATGGGA - intron_variant LIRI-JP 1 211538091 211538098 deletion of <=200bp ATATGGGA - upstream_gene_variant LIRI-JP 1 211539624 211539624 single base substitution A T downstream_gene_variant LIRI-JP 1 211539624 211539624 single base substitution A T intron_variant LIRI-JP 1 211539624 211539624 single base substitution A T upstream_gene_variant LIRI-JP 1 211541859 211541859 single base substitution A G downstream_gene_variant LIRI-JP 1 211541859 211541859 single base substitution A G intron_variant LIRI-JP 1 211541859 211541859 single base substitution A G upstream_gene_variant LIRI-JP 1 211542801 211542801 single base substitution A T downstream_gene_variant LIRI-JP 1 211542801 211542801 single base substitution A T exon_variant LIRI-JP 1 211542801 211542801 single base substitution A T missense_variant D160V 479A>T LIRI-JP 1 211542801 211542801 single base substitution A T missense_variant D266V 797A>T LIRI-JP 1 211544647 211544647 single base substitution T G exon_variant LIRI-JP 1 211544647 211544647 single base substitution T G missense_variant F206V 616T>G LIRI-JP 1 211544647 211544647 single base substitution T G missense_variant F312V 934T>G LIRI-JP 1 211545394 211545394 single base substitution A G intron_variant LIRI-JP 1 211546289 211546289 single base substitution G T 3_prime_UTR_variant LIRI-JP 1 211546289 211546289 single base substitution G T downstream_gene_variant LIRI-JP 1 211546289 211546289 single base substitution G T exon_variant LIRI-JP 1 211547131 211547131 single base substitution G C 3_prime_UTR_variant LIRI-JP 1 211547131 211547131 single base substitution G C downstream_gene_variant LIRI-JP 1 211547131 211547131 single base substitution G C exon_variant LIRI-JP 1 211547214 211547214 single base substitution A G 3_prime_UTR_variant LIRI-JP 1 211547214 211547214 single base substitution A G downstream_gene_variant LIRI-JP 1 211547214 211547214 single base substitution A G exon_variant LUSC-KR 1 211499897 211499897 single base substitution A T upstream_gene_variant LUSC-KR 1 211503105 211503105 single base substitution G T intron_variant LUSC-KR 1 211508891 211508891 single base substitution G A intron_variant LUSC-KR 1 211509531 211509531 single base substitution G C intron_variant LUSC-KR 1 211511833 211511833 single base substitution A T intron_variant LUSC-KR 1 211513569 211513569 single base substitution G T intron_variant LUSC-KR 1 211517600 211517600 single base substitution G T intron_variant LUSC-KR 1 211517600 211517600 single base substitution G T upstream_gene_variant LUSC-KR 1 211521759 211521759 single base substitution G T intron_variant LUSC-KR 1 211529945 211529945 single base substitution G T downstream_gene_variant LUSC-KR 1 211529945 211529945 single base substitution G T exon_variant LUSC-KR 1 211529945 211529945 single base substitution G T intron_variant LUSC-KR 1 211530335 211530335 single base substitution G C downstream_gene_variant LUSC-KR 1 211530335 211530335 single base substitution G C exon_variant LUSC-KR 1 211530335 211530335 single base substitution G C intron_variant LUSC-KR 1 211530974 211530974 single base substitution G T downstream_gene_variant LUSC-KR 1 211530974 211530974 single base substitution G T exon_variant LUSC-KR 1 211530974 211530974 single base substitution G T intron_variant LUSC-KR 1 211533161 211533161 single base substitution C T exon_variant LUSC-KR 1 211533161 211533161 single base substitution C T intron_variant LUSC-KR 1 211543419 211543419 single base substitution T C downstream_gene_variant LUSC-KR 1 211543419 211543419 single base substitution T C intron_variant LUSC-KR 1 211547343 211547343 single base substitution G C 3_prime_UTR_variant LUSC-KR 1 211547343 211547343 single base substitution G C downstream_gene_variant LUSC-KR 1 211547343 211547343 single base substitution G C exon_variant LUSC-KR 1 211549760 211549760 single base substitution C G downstream_gene_variant LUSC-US 1 211527758 211527758 single base substitution A T downstream_gene_variant LUSC-US 1 211527758 211527758 single base substitution A T exon_variant LUSC-US 1 211527758 211527758 single base substitution A T missense_variant L75F 225A>T LUSC-US 1 211533358 211533358 single base substitution T A exon_variant LUSC-US 1 211533358 211533358 single base substitution T A intron_variant LUSC-US 1 211533358 211533358 single base substitution T A stop_gained C161* 483T>A MALY-DE 1 211494995 211494995 single base substitution G T upstream_gene_variant MALY-DE 1 211496969 211496969 single base substitution T G upstream_gene_variant MALY-DE 1 211497527 211497527 single base substitution G A upstream_gene_variant MALY-DE 1 211497546 211497546 single base substitution G A upstream_gene_variant MALY-DE 1 211500596 211500596 single base substitution G A intron_variant MALY-DE 1 211500708 211500708 single base substitution C G intron_variant MALY-DE 1 211505522 211505522 single base substitution T A intron_variant MALY-DE 1 211507524 211507524 single base substitution A G intron_variant MALY-DE 1 211508992 211508992 single base substitution T G intron_variant MALY-DE 1 211509593 211509593 single base substitution G A intron_variant MALY-DE 1 211514354 211514354 single base substitution T G intron_variant MALY-DE 1 211516715 211516715 single base substitution C T intron_variant MALY-DE 1 211516715 211516715 single base substitution C T upstream_gene_variant MALY-DE 1 211538294 211538294 single base substitution C T downstream_gene_variant MALY-DE 1 211538294 211538294 single base substitution C T intron_variant MALY-DE 1 211538294 211538294 single base substitution C T upstream_gene_variant MALY-DE 1 211542390 211542390 single base substitution T C downstream_gene_variant MALY-DE 1 211542390 211542390 single base substitution T C exon_variant MALY-DE 1 211542390 211542390 single base substitution T C intron_variant MALY-DE 1 211553152 211553152 single base substitution T C downstream_gene_variant MELA-AU 1 211495207 211495207 single base substitution C T upstream_gene_variant MELA-AU 1 211495720 211495720 single base substitution C T upstream_gene_variant MELA-AU 1 211495792 211495793 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 211496162 211496162 single base substitution C T upstream_gene_variant MELA-AU 1 211496312 211496312 single base substitution G A upstream_gene_variant MELA-AU 1 211496458 211496458 single base substitution G A upstream_gene_variant MELA-AU 1 211497174 211497174 single base substitution C T upstream_gene_variant MELA-AU 1 211497466 211497466 single base substitution G A upstream_gene_variant MELA-AU 1 211497622 211497622 single base substitution C T upstream_gene_variant MELA-AU 1 211497681 211497681 single base substitution G A upstream_gene_variant MELA-AU 1 211497695 211497695 single base substitution G A upstream_gene_variant MELA-AU 1 211497921 211497921 single base substitution G A upstream_gene_variant MELA-AU 1 211498131 211498131 single base substitution G A upstream_gene_variant MELA-AU 1 211498283 211498283 single base substitution G A upstream_gene_variant MELA-AU 1 211498329 211498329 single base substitution C T upstream_gene_variant MELA-AU 1 211500909 211500909 single base substitution C T intron_variant MELA-AU 1 211501734 211501734 single base substitution G A intron_variant MELA-AU 1 211502025 211502025 single base substitution G A intron_variant MELA-AU 1 211502370 211502370 single base substitution C T intron_variant MELA-AU 1 211502425 211502425 single base substitution C T intron_variant MELA-AU 1 211502609 211502609 single base substitution C T intron_variant MELA-AU 1 211504291 211504291 single base substitution C T intron_variant MELA-AU 1 211504309 211504309 single base substitution C T intron_variant MELA-AU 1 211504919 211504919 single base substitution C T intron_variant MELA-AU 1 211505935 211505935 single base substitution C G intron_variant MELA-AU 1 211506246 211506246 single base substitution C T intron_variant MELA-AU 1 211506490 211506490 single base substitution C T intron_variant MELA-AU 1 211506720 211506720 single base substitution G A intron_variant MELA-AU 1 211506962 211506962 single base substitution C G intron_variant MELA-AU 1 211507240 211507240 single base substitution C T intron_variant MELA-AU 1 211507440 211507440 single base substitution G A intron_variant MELA-AU 1 211507993 211507993 single base substitution C T intron_variant MELA-AU 1 211508091 211508091 single base substitution C T intron_variant MELA-AU 1 211508110 211508110 single base substitution C T intron_variant MELA-AU 1 211508415 211508415 single base substitution C T intron_variant MELA-AU 1 211508615 211508615 single base substitution C T intron_variant MELA-AU 1 211508829 211508829 single base substitution C T intron_variant MELA-AU 1 211509278 211509278 single base substitution T C intron_variant MELA-AU 1 211510392 211510392 single base substitution G A intron_variant MELA-AU 1 211510562 211510562 single base substitution C T intron_variant MELA-AU 1 211510933 211510933 single base substitution A G intron_variant MELA-AU 1 211511937 211511937 single base substitution C T intron_variant MELA-AU 1 211512741 211512741 single base substitution C T intron_variant MELA-AU 1 211512888 211512888 single base substitution G A intron_variant MELA-AU 1 211513037 211513037 single base substitution C T intron_variant MELA-AU 1 211513143 211513143 single base substitution C T intron_variant MELA-AU 1 211513695 211513695 single base substitution C T intron_variant MELA-AU 1 211513827 211513827 single base substitution T C intron_variant MELA-AU 1 211513995 211513995 single base substitution C T intron_variant MELA-AU 1 211514117 211514117 single base substitution C T intron_variant MELA-AU 1 211514170 211514170 single base substitution C T intron_variant MELA-AU 1 211515058 211515058 single base substitution G A intron_variant MELA-AU 1 211515058 211515058 single base substitution G A upstream_gene_variant MELA-AU 1 211515230 211515230 single base substitution G A intron_variant MELA-AU 1 211515230 211515230 single base substitution G A upstream_gene_variant MELA-AU 1 211515986 211515986 single base substitution C T intron_variant MELA-AU 1 211515986 211515986 single base substitution C T upstream_gene_variant MELA-AU 1 211516030 211516030 single base substitution C T intron_variant MELA-AU 1 211516030 211516030 single base substitution C T upstream_gene_variant MELA-AU 1 211516688 211516688 single base substitution C T intron_variant MELA-AU 1 211516688 211516688 single base substitution C T upstream_gene_variant MELA-AU 1 211517545 211517546 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 211517545 211517546 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 211518203 211518203 single base substitution C T intron_variant MELA-AU 1 211518203 211518203 single base substitution C T upstream_gene_variant MELA-AU 1 211518485 211518486 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 211518485 211518486 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 211518557 211518557 single base substitution C T intron_variant MELA-AU 1 211518557 211518557 single base substitution C T upstream_gene_variant MELA-AU 1 211518561 211518561 single base substitution C T intron_variant MELA-AU 1 211518561 211518561 single base substitution C T upstream_gene_variant MELA-AU 1 211520028 211520028 single base substitution C T intron_variant MELA-AU 1 211520781 211520781 single base substitution C T intron_variant MELA-AU 1 211520795 211520795 single base substitution G A intron_variant MELA-AU 1 211520848 211520848 single base substitution C T intron_variant MELA-AU 1 211520912 211520912 single base substitution T C intron_variant MELA-AU 1 211522698 211522698 single base substitution C T intron_variant MELA-AU 1 211522807 211522807 single base substitution C T intron_variant MELA-AU 1 211523647 211523647 single base substitution C T intron_variant MELA-AU 1 211523785 211523785 single base substitution G A intron_variant MELA-AU 1 211524472 211524472 single base substitution C T intron_variant MELA-AU 1 211524595 211524596 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 211524893 211524893 single base substitution C T intron_variant MELA-AU 1 211525011 211525011 single base substitution C T intron_variant MELA-AU 1 211525019 211525019 single base substitution G A intron_variant MELA-AU 1 211525091 211525091 single base substitution C T intron_variant MELA-AU 1 211526346 211526346 single base substitution G A intron_variant MELA-AU 1 211526627 211526627 single base substitution C T exon_variant MELA-AU 1 211526627 211526627 single base substitution C T missense_variant R16C 46C>T MELA-AU 1 211526940 211526940 single base substitution A T exon_variant MELA-AU 1 211526940 211526940 single base substitution A T intron_variant MELA-AU 1 211527198 211527198 single base substitution C T downstream_gene_variant MELA-AU 1 211527198 211527198 single base substitution C T intron_variant MELA-AU 1 211527429 211527429 single base substitution C T downstream_gene_variant MELA-AU 1 211527429 211527429 single base substitution C T intron_variant MELA-AU 1 211527730 211527730 single base substitution C T downstream_gene_variant MELA-AU 1 211527730 211527730 single base substitution C T intron_variant MELA-AU 1 211529116 211529116 single base substitution C T downstream_gene_variant MELA-AU 1 211529116 211529116 single base substitution C T intron_variant MELA-AU 1 211529262 211529262 single base substitution C T downstream_gene_variant MELA-AU 1 211529262 211529262 single base substitution C T intron_variant MELA-AU 1 211529919 211529919 single base substitution A T downstream_gene_variant MELA-AU 1 211529919 211529919 single base substitution A T exon_variant MELA-AU 1 211529919 211529919 single base substitution A T intron_variant MELA-AU 1 211530040 211530040 single base substitution C T downstream_gene_variant MELA-AU 1 211530040 211530040 single base substitution C T exon_variant MELA-AU 1 211530040 211530040 single base substitution C T intron_variant MELA-AU 1 211530121 211530121 single base substitution G A downstream_gene_variant MELA-AU 1 211530121 211530121 single base substitution G A exon_variant MELA-AU 1 211530121 211530121 single base substitution G A intron_variant MELA-AU 1 211530423 211530423 single base substitution C T downstream_gene_variant MELA-AU 1 211530423 211530423 single base substitution C T exon_variant MELA-AU 1 211530423 211530423 single base substitution C T intron_variant MELA-AU 1 211530677 211530677 single base substitution C T downstream_gene_variant MELA-AU 1 211530677 211530677 single base substitution C T exon_variant MELA-AU 1 211530677 211530677 single base substitution C T intron_variant MELA-AU 1 211530743 211530744 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 211530743 211530744 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 1 211530743 211530744 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 211530745 211530745 single base substitution C T downstream_gene_variant MELA-AU 1 211530745 211530745 single base substitution C T exon_variant MELA-AU 1 211530745 211530745 single base substitution C T intron_variant MELA-AU 1 211530902 211530902 single base substitution C T downstream_gene_variant MELA-AU 1 211530902 211530902 single base substitution C T exon_variant MELA-AU 1 211530902 211530902 single base substitution C T intron_variant MELA-AU 1 211530914 211530914 single base substitution C T downstream_gene_variant MELA-AU 1 211530914 211530914 single base substitution C T exon_variant MELA-AU 1 211530914 211530914 single base substitution C T intron_variant MELA-AU 1 211531323 211531323 single base substitution G A downstream_gene_variant MELA-AU 1 211531323 211531323 single base substitution G A exon_variant MELA-AU 1 211531323 211531323 single base substitution G A intron_variant MELA-AU 1 211532730 211532730 single base substitution C T exon_variant MELA-AU 1 211532730 211532730 single base substitution C T intron_variant MELA-AU 1 211532742 211532742 single base substitution C T exon_variant MELA-AU 1 211532742 211532742 single base substitution C T intron_variant MELA-AU 1 211532923 211532923 single base substitution C T exon_variant MELA-AU 1 211532923 211532923 single base substitution C T intron_variant MELA-AU 1 211533257 211533257 single base substitution C T exon_variant MELA-AU 1 211533257 211533257 single base substitution C T intron_variant MELA-AU 1 211533257 211533257 single base substitution C T missense_variant H128Y 382C>T MELA-AU 1 211533604 211533604 single base substitution C T exon_variant MELA-AU 1 211533604 211533604 single base substitution C T intron_variant MELA-AU 1 211533627 211533627 single base substitution T C exon_variant MELA-AU 1 211533627 211533627 single base substitution T C intron_variant MELA-AU 1 211533935 211533935 single base substitution C T exon_variant MELA-AU 1 211533935 211533935 single base substitution C T intron_variant MELA-AU 1 211534241 211534241 single base substitution C T intron_variant MELA-AU 1 211534259 211534259 single base substitution C T intron_variant MELA-AU 1 211534271 211534271 single base substitution C T intron_variant MELA-AU 1 211534793 211534793 single base substitution C T downstream_gene_variant MELA-AU 1 211534793 211534793 single base substitution C T intron_variant MELA-AU 1 211535018 211535018 single base substitution C T downstream_gene_variant MELA-AU 1 211535018 211535018 single base substitution C T intron_variant MELA-AU 1 211536390 211536390 single base substitution T C downstream_gene_variant MELA-AU 1 211536390 211536390 single base substitution T C intron_variant MELA-AU 1 211537854 211537854 single base substitution C T downstream_gene_variant MELA-AU 1 211537854 211537854 single base substitution C T intron_variant MELA-AU 1 211537854 211537854 single base substitution C T upstream_gene_variant MELA-AU 1 211538096 211538096 single base substitution G A downstream_gene_variant MELA-AU 1 211538096 211538096 single base substitution G A intron_variant MELA-AU 1 211538096 211538096 single base substitution G A upstream_gene_variant MELA-AU 1 211538240 211538240 single base substitution T A downstream_gene_variant MELA-AU 1 211538240 211538240 single base substitution T A intron_variant MELA-AU 1 211538240 211538240 single base substitution T A upstream_gene_variant MELA-AU 1 211538255 211538255 single base substitution C A downstream_gene_variant MELA-AU 1 211538255 211538255 single base substitution C A intron_variant MELA-AU 1 211538255 211538255 single base substitution C A upstream_gene_variant MELA-AU 1 211538649 211538649 single base substitution A T downstream_gene_variant MELA-AU 1 211538649 211538649 single base substitution A T intron_variant MELA-AU 1 211538649 211538649 single base substitution A T upstream_gene_variant MELA-AU 1 211538661 211538661 single base substitution C G downstream_gene_variant MELA-AU 1 211538661 211538661 single base substitution C G intron_variant MELA-AU 1 211538661 211538661 single base substitution C G upstream_gene_variant MELA-AU 1 211538748 211538748 single base substitution C A downstream_gene_variant MELA-AU 1 211538748 211538748 single base substitution C A exon_variant MELA-AU 1 211538748 211538748 single base substitution C A missense_variant H137N 409C>A MELA-AU 1 211538748 211538748 single base substitution C A missense_variant H243N 727C>A MELA-AU 1 211538748 211538748 single base substitution C A upstream_gene_variant MELA-AU 1 211539096 211539096 single base substitution C T downstream_gene_variant MELA-AU 1 211539096 211539096 single base substitution C T intron_variant MELA-AU 1 211539096 211539096 single base substitution C T upstream_gene_variant MELA-AU 1 211539515 211539515 single base substitution C T downstream_gene_variant MELA-AU 1 211539515 211539515 single base substitution C T intron_variant MELA-AU 1 211539515 211539515 single base substitution C T upstream_gene_variant MELA-AU 1 211540191 211540191 single base substitution C T downstream_gene_variant MELA-AU 1 211540191 211540191 single base substitution C T intron_variant MELA-AU 1 211540191 211540191 single base substitution C T upstream_gene_variant MELA-AU 1 211540469 211540469 single base substitution G T downstream_gene_variant MELA-AU 1 211540469 211540469 single base substitution G T intron_variant MELA-AU 1 211540469 211540469 single base substitution G T upstream_gene_variant MELA-AU 1 211540477 211540477 single base substitution C T downstream_gene_variant MELA-AU 1 211540477 211540477 single base substitution C T intron_variant MELA-AU 1 211540477 211540477 single base substitution C T upstream_gene_variant MELA-AU 1 211540533 211540534 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 1 211540533 211540534 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 1 211540533 211540534 multiple base substitution (>=2bp and <=200bp) CC AT upstream_gene_variant MELA-AU 1 211540600 211540600 single base substitution C T downstream_gene_variant MELA-AU 1 211540600 211540600 single base substitution C T intron_variant MELA-AU 1 211540600 211540600 single base substitution C T upstream_gene_variant MELA-AU 1 211542118 211542118 single base substitution C T downstream_gene_variant MELA-AU 1 211542118 211542118 single base substitution C T intron_variant MELA-AU 1 211542118 211542118 single base substitution C T upstream_gene_variant MELA-AU 1 211542670 211542670 single base substitution C T downstream_gene_variant MELA-AU 1 211542670 211542670 single base substitution C T exon_variant MELA-AU 1 211542670 211542670 single base substitution C T intron_variant MELA-AU 1 211543473 211543473 single base substitution C A downstream_gene_variant MELA-AU 1 211543473 211543473 single base substitution C A intron_variant MELA-AU 1 211543483 211543483 single base substitution C T downstream_gene_variant MELA-AU 1 211543483 211543483 single base substitution C T intron_variant MELA-AU 1 211544160 211544160 single base substitution C T intron_variant MELA-AU 1 211544722 211544722 single base substitution C A exon_variant MELA-AU 1 211544722 211544722 single base substitution C A missense_variant Q231K 691C>A MELA-AU 1 211544722 211544722 single base substitution C A missense_variant Q337K 1009C>A MELA-AU 1 211545679 211545679 single base substitution C T exon_variant MELA-AU 1 211545679 211545679 single base substitution C T missense_variant R331C 991C>T MELA-AU 1 211545679 211545679 single base substitution C T missense_variant R437C 1309C>T MELA-AU 1 211545949 211545949 single base substitution C T exon_variant MELA-AU 1 211545949 211545949 single base substitution C T missense_variant H421Y 1261C>T MELA-AU 1 211545949 211545949 single base substitution C T missense_variant H527Y 1579C>T MELA-AU 1 211546255 211546255 single base substitution C T 3_prime_UTR_variant MELA-AU 1 211546255 211546255 single base substitution C T downstream_gene_variant MELA-AU 1 211546255 211546255 single base substitution C T exon_variant MELA-AU 1 211547017 211547017 single base substitution C T 3_prime_UTR_variant MELA-AU 1 211547017 211547017 single base substitution C T downstream_gene_variant MELA-AU 1 211547017 211547017 single base substitution C T exon_variant MELA-AU 1 211547278 211547278 single base substitution T C 3_prime_UTR_variant MELA-AU 1 211547278 211547278 single base substitution T C downstream_gene_variant MELA-AU 1 211547278 211547278 single base substitution T C exon_variant MELA-AU 1 211547467 211547467 single base substitution G A 3_prime_UTR_variant MELA-AU 1 211547467 211547467 single base substitution G A downstream_gene_variant MELA-AU 1 211547467 211547467 single base substitution G A exon_variant MELA-AU 1 211547802 211547802 single base substitution C T 3_prime_UTR_variant MELA-AU 1 211547802 211547802 single base substitution C T downstream_gene_variant MELA-AU 1 211547802 211547802 single base substitution C T exon_variant MELA-AU 1 211548339 211548339 single base substitution C T downstream_gene_variant MELA-AU 1 211548396 211548396 single base substitution T C downstream_gene_variant MELA-AU 1 211549129 211549129 single base substitution C T downstream_gene_variant MELA-AU 1 211549610 211549610 single base substitution G A downstream_gene_variant MELA-AU 1 211549998 211549998 single base substitution G A downstream_gene_variant MELA-AU 1 211551237 211551237 single base substitution C T downstream_gene_variant MELA-AU 1 211552829 211552829 single base substitution C T downstream_gene_variant MELA-AU 1 211553106 211553106 single base substitution A G downstream_gene_variant MELA-AU 1 211553152 211553152 single base substitution T C downstream_gene_variant ORCA-IN 1 211495664 211495664 single base substitution G A upstream_gene_variant ORCA-IN 1 211502738 211502738 single base substitution C G intron_variant ORCA-IN 1 211523337 211523337 single base substitution G A intron_variant ORCA-IN 1 211534068 211534068 single base substitution G A exon_variant ORCA-IN 1 211534068 211534068 single base substitution G A intron_variant ORCA-IN 1 211534068 211534068 single base substitution G A missense_variant E190K 568G>A ORCA-IN 1 211545024 211545024 single base substitution T A intron_variant OV-AU 1 211495546 211495546 single base substitution A G upstream_gene_variant OV-AU 1 211509346 211509346 single base substitution G A intron_variant OV-AU 1 211513769 211513769 single base substitution G C intron_variant OV-AU 1 211523307 211523307 single base substitution A T intron_variant OV-AU 1 211530476 211530476 single base substitution G T downstream_gene_variant OV-AU 1 211530476 211530476 single base substitution G T exon_variant OV-AU 1 211530476 211530476 single base substitution G T intron_variant OV-AU 1 211531930 211531930 single base substitution C G downstream_gene_variant OV-AU 1 211531930 211531930 single base substitution C G exon_variant OV-AU 1 211531930 211531930 single base substitution C G intron_variant OV-AU 1 211535789 211535789 single base substitution A C downstream_gene_variant OV-AU 1 211535789 211535789 single base substitution A C intron_variant OV-AU 1 211542176 211542176 single base substitution C G downstream_gene_variant OV-AU 1 211542176 211542176 single base substitution C G intron_variant OV-AU 1 211542176 211542176 single base substitution C G upstream_gene_variant OV-AU 1 211551357 211551357 single base substitution A G downstream_gene_variant PACA-AU 1 211495156 211495156 single base substitution G A upstream_gene_variant PACA-AU 1 211497857 211497857 single base substitution G T upstream_gene_variant PACA-AU 1 211509373 211509373 single base substitution A G intron_variant PACA-AU 1 211512463 211512463 single base substitution G A intron_variant PACA-AU 1 211518814 211518814 single base substitution C T intron_variant PACA-AU 1 211518814 211518814 single base substitution C T upstream_gene_variant PACA-AU 1 211521738 211521738 single base substitution G A intron_variant PACA-AU 1 211522561 211522561 single base substitution A G intron_variant PACA-AU 1 211523477 211523477 single base substitution C G intron_variant PACA-AU 1 211524996 211524996 single base substitution G A intron_variant PACA-AU 1 211529777 211529777 single base substitution A G downstream_gene_variant PACA-AU 1 211529777 211529777 single base substitution A G exon_variant PACA-AU 1 211529777 211529777 single base substitution A G synonymous_variant G115G 345A>G PACA-AU 1 211539405 211539405 single base substitution C T downstream_gene_variant PACA-AU 1 211539405 211539405 single base substitution C T intron_variant PACA-AU 1 211539405 211539405 single base substitution C T upstream_gene_variant PACA-AU 1 211547141 211547141 single base substitution C G 3_prime_UTR_variant PACA-AU 1 211547141 211547141 single base substitution C G downstream_gene_variant PACA-AU 1 211547141 211547141 single base substitution C G exon_variant PACA-AU 1 211552168 211552168 single base substitution G C downstream_gene_variant PACA-CA 1 211498543 211498543 single base substitution T C upstream_gene_variant PACA-CA 1 211498914 211498914 single base substitution G T upstream_gene_variant PACA-CA 1 211503548 211503548 single base substitution G A intron_variant PACA-CA 1 211505485 211505485 insertion of <=200bp - AGGTTTCA intron_variant PACA-CA 1 211505502 211505506 deletion of <=200bp AGTCT - intron_variant PACA-CA 1 211508510 211508510 single base substitution G T intron_variant PACA-CA 1 211508589 211508589 single base substitution T C intron_variant PACA-CA 1 211509855 211509855 single base substitution T C intron_variant PACA-CA 1 211512135 211512135 single base substitution T G intron_variant PACA-CA 1 211513975 211513975 single base substitution A G intron_variant PACA-CA 1 211514575 211514575 insertion of <=200bp - C intron_variant PACA-CA 1 211514959 211514959 single base substitution A G intron_variant PACA-CA 1 211514959 211514959 single base substitution A G upstream_gene_variant PACA-CA 1 211516475 211516475 single base substitution A G intron_variant PACA-CA 1 211516475 211516475 single base substitution A G upstream_gene_variant PACA-CA 1 211517467 211517467 single base substitution G T intron_variant PACA-CA 1 211517467 211517467 single base substitution G T upstream_gene_variant PACA-CA 1 211518245 211518245 single base substitution A G intron_variant PACA-CA 1 211518245 211518245 single base substitution A G upstream_gene_variant PACA-CA 1 211525274 211525274 single base substitution G C intron_variant PACA-CA 1 211526296 211526296 single base substitution G A intron_variant PACA-CA 1 211527716 211527716 deletion of <=200bp A - downstream_gene_variant PACA-CA 1 211527716 211527716 deletion of <=200bp A - intron_variant PACA-CA 1 211528126 211528126 single base substitution C T downstream_gene_variant PACA-CA 1 211528126 211528126 single base substitution C T intron_variant PACA-CA 1 211534081 211534081 single base substitution T A exon_variant PACA-CA 1 211534081 211534081 single base substitution T A intron_variant PACA-CA 1 211534081 211534081 single base substitution T A missense_variant F194Y 581T>A PACA-CA 1 211534255 211534255 single base substitution C T intron_variant PACA-CA 1 211536692 211536692 single base substitution T C downstream_gene_variant PACA-CA 1 211536692 211536692 single base substitution T C intron_variant PACA-CA 1 211542198 211542198 single base substitution G A downstream_gene_variant PACA-CA 1 211542198 211542198 single base substitution G A intron_variant PACA-CA 1 211542198 211542198 single base substitution G A upstream_gene_variant PACA-CA 1 211543536 211543536 single base substitution T C downstream_gene_variant PACA-CA 1 211543536 211543536 single base substitution T C intron_variant PACA-CA 1 211546094 211546094 single base substitution G A 3_prime_UTR_variant PACA-CA 1 211546094 211546094 single base substitution G A exon_variant PACA-CA 1 211551138 211551138 single base substitution G A downstream_gene_variant PACA-CA 1 211551202 211551202 single base substitution G T downstream_gene_variant PACA-CA 1 211553128 211553128 single base substitution G A downstream_gene_variant PAEN-AU 1 211500135 211500135 single base substitution A C exon_variant PAEN-AU 1 211500135 211500135 single base substitution A C intron_variant PAEN-AU 1 211500135 211500135 single base substitution A C upstream_gene_variant PAEN-AU 1 211509060 211509060 single base substitution C T intron_variant PAEN-IT 1 211516887 211516887 single base substitution C T intron_variant PAEN-IT 1 211516887 211516887 single base substitution C T upstream_gene_variant PAEN-IT 1 211530620 211530620 single base substitution T G downstream_gene_variant PAEN-IT 1 211530620 211530620 single base substitution T G exon_variant PAEN-IT 1 211530620 211530620 single base substitution T G intron_variant PBCA-DE 1 211508208 211508208 single base substitution A T intron_variant PBCA-DE 1 211516808 211516808 single base substitution C T intron_variant PBCA-DE 1 211516808 211516808 single base substitution C T upstream_gene_variant PBCA-DE 1 211522077 211522077 single base substitution C A intron_variant PBCA-DE 1 211533446 211533446 single base substitution C A exon_variant PBCA-DE 1 211533446 211533446 single base substitution C A intron_variant PBCA-DE 1 211538136 211538136 single base substitution G A downstream_gene_variant PBCA-DE 1 211538136 211538136 single base substitution G A intron_variant PBCA-DE 1 211538136 211538136 single base substitution G A upstream_gene_variant PBCA-DE 1 211543165 211543166 deletion of <=200bp TG - downstream_gene_variant PBCA-DE 1 211543165 211543166 deletion of <=200bp TG - intron_variant PRAD-UK 1 211520130 211520130 single base substitution A C intron_variant PRAD-UK 1 211539579 211539579 single base substitution C G downstream_gene_variant PRAD-UK 1 211539579 211539579 single base substitution C G intron_variant PRAD-UK 1 211539579 211539579 single base substitution C G upstream_gene_variant PRAD-UK 1 211546329 211546329 single base substitution G A 3_prime_UTR_variant PRAD-UK 1 211546329 211546329 single base substitution G A downstream_gene_variant PRAD-UK 1 211546329 211546329 single base substitution G A exon_variant PRAD-US 1 211534503 211534503 single base substitution C T downstream_gene_variant PRAD-US 1 211534503 211534503 single base substitution C T intron_variant PRAD-US 1 211534503 211534503 single base substitution C T missense_variant T232M 695C>T PRAD-US 1 211534503 211534503 single base substitution C T splice_region_variant RECA-EU 1 211506526 211506526 single base substitution T C intron_variant RECA-EU 1 211515130 211515130 single base substitution A T intron_variant RECA-EU 1 211515130 211515130 single base substitution A T upstream_gene_variant RECA-EU 1 211527373 211527373 single base substitution A C downstream_gene_variant RECA-EU 1 211527373 211527373 single base substitution A C intron_variant RECA-EU 1 211529476 211529476 single base substitution C G downstream_gene_variant RECA-EU 1 211529476 211529476 single base substitution C G intron_variant RECA-EU 1 211531355 211531355 single base substitution A T downstream_gene_variant RECA-EU 1 211531355 211531355 single base substitution A T exon_variant RECA-EU 1 211531355 211531355 single base substitution A T intron_variant RECA-EU 1 211535320 211535320 single base substitution C A downstream_gene_variant RECA-EU 1 211535320 211535320 single base substitution C A intron_variant RECA-EU 1 211535546 211535546 single base substitution A T downstream_gene_variant RECA-EU 1 211535546 211535546 single base substitution A T intron_variant RECA-EU 1 211541741 211541741 single base substitution T G downstream_gene_variant RECA-EU 1 211541741 211541741 single base substitution T G intron_variant RECA-EU 1 211541741 211541741 single base substitution T G upstream_gene_variant RECA-EU 1 211544801 211544801 single base substitution A T exon_variant RECA-EU 1 211544801 211544801 single base substitution A T missense_variant D257V 770A>T RECA-EU 1 211544801 211544801 single base substitution A T missense_variant D363V 1088A>T RECA-EU 1 211545288 211545288 single base substitution G T intron_variant SKCA-BR 1 211498383 211498383 single base substitution T G upstream_gene_variant SKCA-BR 1 211500379 211500379 single base substitution C G intron_variant SKCA-BR 1 211504292 211504292 single base substitution C T intron_variant SKCA-BR 1 211505567 211505567 single base substitution G A intron_variant SKCA-BR 1 211506054 211506054 single base substitution T A intron_variant SKCA-BR 1 211507065 211507065 single base substitution C T intron_variant SKCA-BR 1 211507243 211507243 single base substitution A C intron_variant SKCA-BR 1 211507894 211507894 single base substitution G A intron_variant SKCA-BR 1 211507895 211507895 single base substitution G A intron_variant SKCA-BR 1 211508214 211508214 single base substitution A G intron_variant SKCA-BR 1 211510894 211510894 single base substitution A G intron_variant SKCA-BR 1 211516043 211516043 single base substitution C T intron_variant SKCA-BR 1 211516043 211516043 single base substitution C T upstream_gene_variant SKCA-BR 1 211518088 211518088 single base substitution C T intron_variant SKCA-BR 1 211518088 211518088 single base substitution C T upstream_gene_variant SKCA-BR 1 211518623 211518623 single base substitution C T intron_variant SKCA-BR 1 211518623 211518623 single base substitution C T upstream_gene_variant SKCA-BR 1 211520228 211520228 single base substitution T G intron_variant SKCA-BR 1 211521270 211521270 single base substitution T A intron_variant SKCA-BR 1 211522768 211522768 single base substitution A T intron_variant SKCA-BR 1 211525438 211525438 single base substitution C T intron_variant SKCA-BR 1 211530212 211530212 single base substitution C T downstream_gene_variant SKCA-BR 1 211530212 211530212 single base substitution C T exon_variant SKCA-BR 1 211530212 211530212 single base substitution C T intron_variant SKCA-BR 1 211532799 211532799 single base substitution C T exon_variant SKCA-BR 1 211532799 211532799 single base substitution C T intron_variant SKCA-BR 1 211540308 211540308 insertion of <=200bp - ATTGT downstream_gene_variant SKCA-BR 1 211540308 211540308 insertion of <=200bp - ATTGT intron_variant SKCA-BR 1 211540308 211540308 insertion of <=200bp - ATTGT upstream_gene_variant SKCA-BR 1 211541388 211541388 single base substitution T A downstream_gene_variant SKCA-BR 1 211541388 211541388 single base substitution T A intron_variant SKCA-BR 1 211541388 211541388 single base substitution T A upstream_gene_variant SKCA-BR 1 211542685 211542685 single base substitution T C downstream_gene_variant SKCA-BR 1 211542685 211542685 single base substitution T C exon_variant SKCA-BR 1 211542685 211542685 single base substitution T C intron_variant SKCA-BR 1 211543483 211543483 single base substitution C T downstream_gene_variant SKCA-BR 1 211543483 211543483 single base substitution C T intron_variant SKCA-BR 1 211544350 211544350 single base substitution A G intron_variant SKCA-BR 1 211546397 211546397 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 211546397 211546397 single base substitution C T downstream_gene_variant SKCA-BR 1 211546397 211546397 single base substitution C T exon_variant SKCA-BR 1 211547316 211547316 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 211547316 211547316 single base substitution C T downstream_gene_variant SKCA-BR 1 211547316 211547316 single base substitution C T exon_variant SKCA-BR 1 211551829 211551829 single base substitution T G downstream_gene_variant SKCM-US 1 211526699 211526699 single base substitution G A exon_variant SKCM-US 1 211526699 211526699 single base substitution G A missense_variant E40K 118G>A SKCM-US 1 211529807 211529807 single base substitution C T downstream_gene_variant SKCM-US 1 211529807 211529807 single base substitution C T exon_variant SKCM-US 1 211529807 211529807 single base substitution C T synonymous_variant Y125Y 375C>T SKCM-US 1 211533227 211533227 single base substitution C T exon_variant SKCM-US 1 211533227 211533227 single base substitution C T intron_variant SKCM-US 1 211534078 211534078 single base substitution T A exon_variant SKCM-US 1 211534078 211534078 single base substitution T A intron_variant SKCM-US 1 211534078 211534078 single base substitution T A missense_variant V193E 578T>A SKCM-US 1 211538796 211538796 single base substitution C T downstream_gene_variant SKCM-US 1 211538796 211538796 single base substitution C T exon_variant SKCM-US 1 211538796 211538796 single base substitution C T stop_gained Q153* 457C>T SKCM-US 1 211538796 211538796 single base substitution C T stop_gained Q259* 775C>T SKCM-US 1 211538796 211538796 single base substitution C T upstream_gene_variant SKCM-US 1 211545679 211545679 single base substitution C T exon_variant SKCM-US 1 211545679 211545679 single base substitution C T missense_variant R331C 991C>T SKCM-US 1 211545679 211545679 single base substitution C T missense_variant R437C 1309C>T SKCM-US 1 211545749 211545749 single base substitution C T exon_variant SKCM-US 1 211545749 211545749 single base substitution C T missense_variant S354F 1061C>T SKCM-US 1 211545749 211545749 single base substitution C T missense_variant S460F 1379C>T SKCM-US 1 211545968 211545968 single base substitution C T exon_variant SKCM-US 1 211545968 211545968 single base substitution C T missense_variant A427V 1280C>T SKCM-US 1 211545968 211545968 single base substitution C T missense_variant A533V 1598C>T STAD-US 1 211526725 211526725 single base substitution C T exon_variant STAD-US 1 211526725 211526725 single base substitution C T synonymous_variant C48C 144C>T STAD-US 1 211545647 211545647 single base substitution T C exon_variant STAD-US 1 211545647 211545647 single base substitution T C missense_variant V320A 959T>C STAD-US 1 211545647 211545647 single base substitution T C missense_variant V426A 1277T>C STAD-US 1 211546014 211546014 single base substitution C T exon_variant STAD-US 1 211546014 211546014 single base substitution C T synonymous_variant A442A 1326C>T STAD-US 1 211546014 211546014 single base substitution C T synonymous_variant A548A 1644C>T THCA-SA 1 211533352 211533352 single base substitution A G exon_variant THCA-SA 1 211533352 211533352 single base substitution A G intron_variant THCA-SA 1 211533352 211533352 single base substitution A G synonymous_variant A159A 477A>G UCEC-US 1 211526730 211526730 single base substitution C T exon_variant UCEC-US 1 211526730 211526730 single base substitution C T missense_variant S50L 149C>T UCEC-US 1 211533365 211533365 single base substitution C T exon_variant UCEC-US 1 211533365 211533365 single base substitution C T intron_variant UCEC-US 1 211533365 211533365 single base substitution C T stop_gained R164* 490C>T UCEC-US 1 211542866 211542866 single base substitution C T downstream_gene_variant UCEC-US 1 211542866 211542866 single base substitution C T exon_variant UCEC-US 1 211542866 211542866 single base substitution C T missense_variant L182F 544C>T UCEC-US 1 211542866 211542866 single base substitution C T missense_variant L288F 862C>T UCEC-US 1 211544692 211544692 single base substitution C T exon_variant UCEC-US 1 211544692 211544692 single base substitution C T missense_variant H221Y 661C>T UCEC-US 1 211544692 211544692 single base substitution C T missense_variant H327Y 979C>T UCEC-US 1 211545547 211545547 single base substitution C T exon_variant UCEC-US 1 211545547 211545547 single base substitution C T stop_gained R287* 859C>T UCEC-US 1 211545547 211545547 single base substitution C T stop_gained R393* 1177C>T UCEC-US 1 211545736 211545736 single base substitution G A exon_variant UCEC-US 1 211545736 211545736 single base substitution G A missense_variant G350R 1048G>A UCEC-US 1 211545736 211545736 single base substitution G A missense_variant G456R 1366G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AZ-4615-01 COSM1338620 c.695C>T p.T232M Substitution - Missense 1:211361161-211361161 + TCGA-B5-A0K1-01 COSM903480 c.1366G>A p.G456R Substitution - Missense 1:211372394-211372394 + sysucc-1317T COSM5448386 c.574C>A p.P192T Substitution - Missense 1:211360732-211360732 + 587376 COSM1230214 c.291T>G p.N97K Substitution - Missense 1:211356381-211356381 + YUKLAB COSM1689797 c.164C>T p.P55L Substitution - Missense 1:211353403-211353403 + PT40 COSM5796656 c.216G>A p.L72L Substitution - coding silent 1:211353455-211353455 + T2932 COSM4735717 c.1340A>G p.Y447C Substitution - Missense 1:211372368-211372368 + TCGA-D1-A16S-01 COSM903472 c.544-1G>C p.? Unknown 1:211360701-211360701 + S00933 COSM316114 c.150G>T p.S50S Substitution - coding silent 1:211353389-211353389 + TCGA-36-2552-01 COSM1320502 c.1419G>T p.L473L Substitution - coding silent 1:211372447-211372447 + ccRCC-95 COSM1660037 c.1339T>C p.Y447H Substitution - Missense 1:211372367-211372367 + PD13760a COSM1338620 c.695C>T p.T232M Substitution - Missense 1:211361161-211361161 + BK0066 COSM4188461 c.1521delC p.F508fs*8 Deletion - Frameshift 1:211372549-211372549 + WSU-HN6 COSM4602099 c.613A>G p.K205E Substitution - Missense 1:211360771-211360771 + HCT116 COSM242027 c.1321C>T p.R441W Substitution - Missense 1:211372349-211372349 + TCGA-A6-6781-01 COSM1338620 c.695C>T p.T232M Substitution - Missense 1:211361161-211361161 + EGC28 COSM5053069 c.768G>C p.K256N Substitution - Missense 1:211365447-211365447 + CHC892T COSM4798399 c.1368G>A p.G456G Substitution - coding silent 1:211372396-211372396 + RPMI-8226 COSM1668445 c.1253G>C p.R418T Substitution - Missense 1:211372281-211372281 + TCGA-EE-A2ME-06 COSM3483068 c.375C>T p.Y125Y Substitution - coding silent 1:211356465-211356465 + TCGA-D8-A1J9-01 COSM1473366 c.4G>C p.A2P Substitution - Missense 1:211353243-211353243 + Gp2D COSM4626996 c.1100C>T p.A367V Substitution - Missense 1:211372128-211372128 + HCC2998 COSM1929798 c.1078G>A p.E360K Substitution - Missense 1:211371449-211371449 + Pat_59_B COSM5845365 c.332G>A p.S111N Substitution - Missense 1:211356422-211356422 + pfg108T COSM4764531 c.1606G>A p.A536T Substitution - Missense 1:211372634-211372634 + TCGA-E2-A15S-01 COSM5228469 c.1348delG p.D451fs*32 Deletion - Frameshift 1:211372376-211372376 + CHC205T COSM3746773 c.477A>G p.A159A Substitution - coding silent 1:211360010-211360010 + SC_9034 COSM5563770 c.1438C>T p.Q480* Substitution - Nonsense 1:211372466-211372466 + sysucc-1397T COSM5473308 c.230C>T p.T77I Substitution - Missense 1:211354421-211354421 + PD18730a COSM5796656 c.216G>A p.L72L Substitution - coding silent 1:211353455-211353455 + ESCC_13 COSM5625018 c.1258G>A p.A420T Substitution - Missense 1:211372286-211372286 + PD4957a COSM5788099 c.1635G>C p.L545F Substitution - Missense 1:211372663-211372663 + S01-27743-TP COSM4990532 c.1251G>C p.K417N Substitution - Missense 1:211372279-211372279 + T3535 COSM4735718 c.1464C>T p.D488D Substitution - coding silent 1:211372492-211372492 + pfg010T COSM1639711 c.588C>G p.P196P Substitution - coding silent 1:211360746-211360746 + 112313 COSM95390 c.302G>C p.R101T Substitution - Missense 1:211356392-211356392 + C086 COSM5540727 c.1380C>T p.S460S Substitution - coding silent 1:211372408-211372408 + TCGA-ER-A19M-06 COSM3483070 c.775C>T p.Q259* Substitution - Nonsense 1:211365454-211365454 + WA60 COSM242027 c.1321C>T p.R441W Substitution - Missense 1:211372349-211372349 + TCGA-EE-A2MC-06 COSM3483071 c.1309C>T p.R437C Substitution - Missense 1:211372337-211372337 + RK282_C01 COSM4964148 c.23A>G p.K8R Substitution - Missense 1:211353262-211353262 + TCGA-EE-A17X-06 COSM3483072 c.1379C>T p.S460F Substitution - Missense 1:211372407-211372407 + 8013930 COSM3385726 c.345A>G p.G115G Substitution - coding silent 1:211356435-211356435 + ME009T COSM222639 c.757G>A p.V253I Substitution - Missense 1:211365436-211365436 + TCGA-36-1571-01 COSM78692 c.433C>G p.R145G Substitution - Missense 1:211359966-211359966 + TCGA-D3-A2JH-06 COSM3483067 c.118G>A p.E40K Substitution - Missense 1:211353357-211353357 + TCGA-AX-A0J0-01 COSM903479 c.1177C>T p.R393* Substitution - Nonsense 1:211372205-211372205 + S05-46290-TP COSM4990530 c.741G>A p.R247R Substitution - coding silent 1:211365420-211365420 + HCC075T COSM5822058 c.790-2A>G p.? Unknown 1:211369450-211369450 + PCSI_0472_Pa_P_526 COSM5031524 c.581T>A p.F194Y Substitution - Missense 1:211360739-211360739 + TCGA-FC-7708-01 COSM1338620 c.695C>T p.T232M Substitution - Missense 1:211361161-211361161 + HCC002T COSM5819333 c.789+4A>T p.? Unknown 1:211365472-211365472 + S03-26121-TP COSM4496715 c.480C>T p.S160S Substitution - coding silent 1:211360013-211360013 + TCGA-D5-6540-01 COSM1338621 c.1154C>T p.A385V Substitution - Missense 1:211372182-211372182 + HN_62699 COSM129876 c.954G>T p.K318N Substitution - Missense 1:211371325-211371325 + TCGA-AA-A02Y-01 COSM301074 c.491G>T p.R164L Substitution - Missense 1:211360024-211360024 + CH-54-T2 COSM5650943 c.491G>A p.R164Q Substitution - Missense 1:211360024-211360024 + SYN03PT2 COSM1732586 c.1567C>T p.R523C Substitution - Missense 1:211372595-211372595 + 107388 COSM95391 c.524T>C p.V175A Substitution - Missense 1:211360057-211360057 + ccRCC-67 COSM1664662 c.269C>A p.S90Y Substitution - Missense 1:211354460-211354460 + TCGA-AA-A010-01 COSM285911 c.302G>T p.R101I Substitution - Missense 1:211356392-211356392 + TCGA-CJ-4918-01 COSM463890 c.1495T>A p.F499I Substitution - Missense 1:211372523-211372523 + HCC017T COSM5814681 c.1435A>T p.R479W Substitution - Missense 1:211372463-211372463 + 255 COSM3732003 c.453A>T p.K151N Substitution - Missense 1:211359986-211359986 + TCGA-BR-4201-01 COSM4027881 c.1644C>T p.A548A Substitution - coding silent 1:211372672-211372672 + LUAD_E01319 COSM390908 c.938C>T p.A313V Substitution - Missense 1:211371309-211371309 + 2292383 COSM4610257 c.1303A>C p.T435P Substitution - Missense 1:211372331-211372331 + TCGA-34-5231-01 COSM678735 c.483T>A p.C161* Substitution - Nonsense 1:211360016-211360016 + BK0066 COSM4188462 c.1523_1525delTTA p.F508_K509>* Complex - deletion inframe 1:211372551-211372553 + S03-45671-TP COSM4990531 c.918C>T p.L306L Substitution - coding silent 1:211369580-211369580 + HCC036T COSM5817999 c.1289G>T p.S430I Substitution - Missense 1:211372317-211372317 + TCGA-B5-A11E-01 COSM903478 c.979C>T p.H327Y Substitution - Missense 1:211371350-211371350 + BD114T COSM5502396 c.1440G>T p.Q480H Substitution - Missense 1:211372468-211372468 + TCGA-AX-A0J1-01 COSM903479 c.1177C>T p.R393* Substitution - Nonsense 1:211372205-211372205 + HCC2T COSM1601614 c.391C>A p.Q131K Substitution - Missense 1:211359924-211359924 + 2497781 COSM5750982 c.790A>T p.I264F Substitution - Missense 1:211369452-211369452 + ESO-859 COSM1240503 c.978G>A p.V326V Substitution - coding silent 1:211371349-211371349 + TCGA-EE-A2GR-06 COSM3483069 c.578T>A p.V193E Substitution - Missense 1:211360736-211360736 + 99797 COSM95678 c.1255G>T p.E419* Substitution - Nonsense 1:211372283-211372283 + ESCC_169 COSM5648845 c.1156C>T p.Q386* Substitution - Nonsense 1:211372184-211372184 + S00933 COSM316114 c.150G>T p.S50S Substitution - coding silent 1:211353389-211353389 + OSCC-GB_00950111 COSM4881922 c.568G>A p.E190K Substitution - Missense 1:211360726-211360726 + TCGA-D1-A17Q-01 COSM903477 c.862C>T p.L288F Substitution - Missense 1:211369524-211369524 + TCGA-AA-3510-01 COSM903471 c.490C>T p.R164* Substitution - Nonsense 1:211360023-211360023 + C086 COSM5540726 c.1381C>T p.L461L Substitution - coding silent 1:211372409-211372409 + TCGA-NI-A4U2-01 COSM4909620 c.1439A>G p.Q480R Substitution - Missense 1:211372467-211372467 + SJACT005_D COSM4968048 c.358G>T p.V120F Substitution - Missense 1:211356448-211356448 + YUZINO COSM1689798 c.256G>A p.E86K Substitution - Missense 1:211354447-211354447 + TCGA-FP-A4BE-01 COSM4027880 c.1277T>C p.V426A Substitution - Missense 1:211372305-211372305 + ccRCC-82 COSM1664663 c.1054G>A p.V352M Substitution - Missense 1:211371425-211371425 + TCGA-FS-A1ZD-06 COSM3483073 c.1598C>T p.A533V Substitution - Missense 1:211372626-211372626 + MS4 COSM1165395 c.667C>G p.P223A Substitution - Missense 1:211361133-211361133 + YUKAT COSM5379566 c.409G>A p.V137M Substitution - Missense 1:211359942-211359942 + TCGA-BP-5182-01 COSM463889 c.1479G>A p.K493K Substitution - coding silent 1:211372507-211372507 + TCGA-DS-A0VM-01 COSM458259 c.1534G>C p.D512H Substitution - Missense 1:211372562-211372562 + CHC1725T COSM4800843 c.1253G>T p.R418I Substitution - Missense 1:211372281-211372281 + ESCC_157 COSM5646160 c.649G>A p.E217K Substitution - Missense 1:211361115-211361115 + ZZUFHECRKL-G062T COSM3746773 c.477A>G p.A159A Substitution - coding silent 1:211360010-211360010 + RK209_C01 COSM1626795 c.797A>T p.D266V Substitution - Missense 1:211369459-211369459 + T263 COSM4735715 c.476C>T p.A159V Substitution - Missense 1:211360009-211360009 + HX27T COSM3705467 c.790-9T>C p.? Unknown 1:211369443-211369443 + CLL169 COSM1177352 c.99C>T p.Y33Y Substitution - coding silent 1:211353338-211353338 + TCGA-AG-A002-01 COSM264157 c.884T>C p.F295S Substitution - Missense 1:211369546-211369546 + CHC892T COSM4798399 c.1368G>A p.G456G Substitution - coding silent 1:211372396-211372396 + pfg143T COSM4764532 c.1643C>T p.A548V Substitution - Missense 1:211372671-211372671 + 100879 COSM95392 c.1039G>A p.E347K Substitution - Missense 1:211371410-211371410 + YUSCA COSM5379567 c.1459C>T p.L487L Substitution - coding silent 1:211372487-211372487 + TCGA-22-5472-01 COSM678736 c.225A>T p.L75F Substitution - Missense 1:211354416-211354416 + TCGA-AP-A056-01 COSM903471 c.490C>T p.R164* Substitution - Nonsense 1:211360023-211360023 + RK187_C01 COSM3740985 c.934T>G p.F312V Substitution - Missense 1:211371305-211371305 + TCGA-FP-A4BE-01 COSM4027879 c.144C>T p.C48C Substitution - coding silent 1:211353383-211353383 + TCGA-BP-4158-01 COSM3360627 c.1262T>A p.V421E Substitution - Missense 1:211372290-211372290 + TCGA-CJ-6030-01 COSM463888 c.823G>A p.E275K Substitution - Missense 1:211369485-211369485 + C0038T COSM4135955 c.1088A>T p.D363V Substitution - Missense 1:211371459-211371459 + TCGA-D8-A27G-01 COSM3803793 c.42C>T p.F14F Substitution - coding silent 1:211353281-211353281 + TCGA-AX-A060-01 COSM903470 c.149C>T p.S50L Substitution - Missense 1:211353388-211353388 + CHC1725T COSM4800843 c.1253G>T p.R418I Substitution - Missense 1:211372281-211372281 + MD-280 COSM303440 c.900_901insA p.N302fs*16 Insertion - Frameshift 1:211369562-211369563 + TCGA-CU-A0YR-01 COSM414649 c.360T>A p.V120V Substitution - coding silent 1:211356450-211356450 + T613 COSM4735716 c.1031C>A p.P344H Substitution - Missense 1:211371402-211371402 + T155 COSM1177352 c.99C>T p.Y33Y Substitution - coding silent 1:211353338-211353338 + CSCC-60-T COSM4496715 c.480C>T p.S160S Substitution - coding silent 1:211360013-211360013 + TCGA-AC-A23H-01 COSM3803794 c.1245G>A p.M415I Substitution - Missense 1:211372273-211372273 + YUNIBO COSM5379568 c.1596T>G p.N532K Substitution - Missense 1:211372624-211372624 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.523930 1q32 602356

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.K95T c.284A>C 1 211529716 LUAD A T Missense p.L75F c.225A>T 1 211527758 LUSC C A IntronicSNV . c.543+28C>A 1 211533446 MB C A Missense p.A367D c.1100C>A 1 211545470 HNSC C G Missense p.R145G c.433C>G 1 211533308 OV C G Missense p.R437G c.1309C>G 1 211545679 CM C G Synonymous p.P196P c.588C>G 1 211534088 STAD C T 3-UTRSNV . c.1671+119C>T 1 211546160 CM C T IntronicSNV . c.790-20C>T 1 211542774 CM C T IntronicSNV . c.790-99C>T 1 211542695 CM C T Missense p.A533V c.1598C>T 1 211545968 CM C T Missense p.R437C c.1309C>T 1 211545679 CM C T Missense p.S460F c.1379C>T 1 211545749 CM C T Missense p.S50L c.149C>T 1 211526730 UCEC C T Missense p.T232M c.695C>T 1 211534503 PRAD C T Synonymous p.A548A c.1644C>T 1 211546014 STAD C T Synonymous p.Y125Y c.375C>T 1 211529807 CM C T Synonymous p.Y33Y c.99C>T 1 211526680 CLL G A IntronicSNV . c.790-74G>A 1 211542720 CM G A Missense p.E275K c.823G>A 1 211542827 RCCC G A Missense p.E40K c.118G>A 1 211526699 CM G A Missense p.G456R c.1366G>A 1 211545736 UCEC G A Missense p.V253I c.757G>A 1 211538778 CM G A Synonymous p.A200A c.600G>A 1 211534100 COREAD G A Synonymous p.K493K c.1479G>A 1 211545849 RCCC G A Synonymous p.V326V c.978G>A 1 211544691 ESCA G C Missense p.A2P c.4G>C 1 211526585 BRCA G T Missense p.K318N c.954G>T 1 211544667 HNSC G T Missense p.R164L c.491G>T 1 211533366 COREAD G T Missense p.V421L c.1261G>T 1 211545631 STAD G T Synonymous p.S50S c.150G>T 1 211526731 SCLC T A IntronicSNV . c.544-13T>A 1 211534031 CM T A Missense p.F499I c.1495T>A 1 211545865 RCCC T A Missense p.V193E c.578T>A 1 211534078 CM T A Missense p.V421E c.1262T>A 1 211545632 RCCC T A Nonsense p.C161* c.483T>A 1 211533358 LUSC T A Synonymous p.V120V c.360T>A 1 211529792 BLCA T C Synonymous p.P189P c.567T>C 1 211534067 HNSC TTCTACA - Frameshift p.F433Pfs*14 c.1297_1303delTTCTACA 1 211545667 BRCA