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 12 121458561 121458561 + Missense_Mutation SNP T T C TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr12:121458561T>C c.1348A>G c.(1348-1350)Atc>Gtc p.I450V BLCA 12 121458759 121458759 + Missense_Mutation SNP G G A TCGA-GD-A3OP-01A-21D-A21Z-08 TCGA-GD-A3OP-10A-01D-A21Z-08 g.chr12:121458759G>A c.1150C>T c.(1150-1152)Cgg>Tgg p.R384W BLCA 12 121458862 121458862 + Splice_Site SNP C C G TCGA-UY-A9PE-01A-11D-A38G-08 TCGA-UY-A9PE-10A-01D-A38J-08 g.chr12:121458862C>G c.e6-1 BLCA 12 121465473 121465473 + Missense_Mutation SNP C C T TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr12:121465473C>T c.805G>A c.(805-807)Gag>Aag p.E269K BLCA 12 121465522 121465522 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 g.chr12:121465522C>G c.756G>C c.(754-756)gaG>gaC p.E252D BLCA 12 121465572 121465572 + Missense_Mutation SNP G G C TCGA-GV-A3JX-01A-11D-A20D-08 TCGA-GV-A3JX-10A-01D-A20D-08 g.chr12:121465572G>C c.706C>G c.(706-708)Ctt>Gtt p.L236V BLCA 12 121476582 121476582 + Missense_Mutation SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr12:121476582C>T c.193G>A c.(193-195)Gtc>Atc p.V65I BLCA 12 121476643 121476643 + Silent SNP C C G TCGA-XF-AAMX-01A-11D-A42E-08 TCGA-XF-AAMX-10A-01D-A42H-08 g.chr12:121476643C>G c.132G>C c.(130-132)ctG>ctC p.L44L BLCA 12 121476721 121476721 + Silent SNP G G A TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr12:121476721G>A c.54C>T c.(52-54)ttC>ttT p.F18F BRCA 12 121458644 121458645 + Frame_Shift_Del DEL GT GT - TCGA-AN-A049-01A-21W-A019-09 TCGA-AN-A049-10A-01W-A021-09 g.chr12:121458644_121458645delGT c.1264_1265delAC c.(1264-1266)actfs p.T422fs BRCA 12 121458768 121458768 + Nonsense_Mutation SNP C C A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:121458768C>A c.1141G>T c.(1141-1143)Gag>Tag p.E381* BRCA 12 121458802 121458802 + Silent SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr12:121458802G>A c.1107C>T c.(1105-1107)atC>atT p.I369I BRCA 12 121461839 121461839 + Missense_Mutation SNP C C T TCGA-C8-A12X-01A-11D-A10Y-09 TCGA-C8-A12X-10A-01D-A110-09 g.chr12:121461839C>T c.1001G>A c.(1000-1002)tGt>tAt p.C334Y BRCA 12 121461911 121461911 + Missense_Mutation SNP G G C TCGA-AC-A23G-01A-11D-A20S-09 TCGA-AC-A23G-11A-12D-A20S-09 g.chr12:121461911G>C c.929C>G c.(928-930)aCc>aGc p.T310S BRCA 12 121469412 121469412 + Missense_Mutation SNP G G T TCGA-C8-A1HM-01A-12D-A135-09 TCGA-C8-A1HM-10A-01D-A135-09 g.chr12:121469412G>T c.490C>A c.(490-492)Ctt>Att p.L164I BRCA 12 121471334 121471334 + Silent SNP G G A TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr12:121471334G>A c.411C>T c.(409-411)gtC>gtT p.V137V BRCA 12 121471506 121471506 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr12:121471506C>G c.239G>C c.(238-240)aGa>aCa p.R80T BRCA 12 121476654 121476654 + Missense_Mutation SNP C C G TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr12:121476654C>G c.121G>C c.(121-123)Gag>Cag p.E41Q CESC 12 121471367 121471367 + Silent SNP C C G TCGA-Q1-A73O-01A-11D-A32I-09 TCGA-Q1-A73O-10B-01D-A32I-09 g.chr12:121471367C>G c.378G>C c.(376-378)ctG>ctC p.L126L COAD 12 121458637 121458637 + Silent SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:121458637G>T c.1272C>A c.(1270-1272)atC>atA p.I424I COAD 12 121469417 121469417 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:121469417G>T c.485C>A c.(484-486)cCt>cAt p.P162H COAD 12 121471414 121471414 + Frame_Shift_Del DEL T T - TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr12:121471414delT c.331delA c.(331-333)accfs p.T111fs COAD 12 121476675 121476675 + Missense_Mutation SNP G G T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr12:121476675G>T c.100C>A c.(100-102)Cta>Ata p.L34I COADREAD 12 121458598 121458598 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:121458598G>A c.1311C>T c.(1309-1311)ttC>ttT p.F437F COADREAD 12 121458637 121458637 + Silent SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:121458637G>T c.1272C>A c.(1270-1272)atC>atA p.I424I COADREAD 12 121469315 121469315 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:121469315C>A c.587G>T c.(586-588)aGa>aTa p.R196I COADREAD 12 121469417 121469417 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr12:121469417G>T c.485C>A c.(484-486)cCt>cAt p.P162H COADREAD 12 121471414 121471414 + Frame_Shift_Del DEL T T - TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr12:121471414delT c.331delA c.(331-333)accfs p.T111fs COADREAD 12 121476675 121476675 + Missense_Mutation SNP G G T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chr12:121476675G>T c.100C>A c.(100-102)Cta>Ata p.L34I ESCA 12 121476752 121476752 + Missense_Mutation SNP T T C TCGA-LN-A5U7-01A-11D-A31U-09 TCGA-LN-A5U7-10A-01D-A31U-09 g.chr12:121476752T>C c.23A>G c.(22-24)tAt>tGt p.Y8C GBM 12 121465457 121465457 + Missense_Mutation SNP C C G TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 g.chr12:121465457C>G c.821G>C c.(820-822)tGt>tCt p.C274S GBM 12 121469372 121469372 + Missense_Mutation SNP A A G TCGA-76-4932-01A-01D-1486-08 TCGA-76-4932-10A-01D-1486-08 g.chr12:121469372A>G c.530T>C c.(529-531)cTg>cCg p.L177P GBM 12 121471350 121471350 + Missense_Mutation SNP A A G TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 g.chr12:121471350A>G c.395T>C c.(394-396)gTc>gCc p.V132A GBMLGG 12 121461853 121461853 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:121461853G>A c.987C>T c.(985-987)tgC>tgT p.C329C GBMLGG 12 121461900 121461900 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:121461900C>A c.940G>T c.(940-942)Gca>Tca p.A314S GBMLGG 12 121465457 121465457 + Missense_Mutation SNP C C G TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 g.chr12:121465457C>G c.821G>C c.(820-822)tGt>tCt p.C274S GBMLGG 12 121469372 121469372 + Missense_Mutation SNP A A G TCGA-76-4932-01A-01D-1486-08 TCGA-76-4932-10A-01D-1486-08 g.chr12:121469372A>G c.530T>C c.(529-531)cTg>cCg p.L177P GBMLGG 12 121471350 121471350 + Missense_Mutation SNP A A G TCGA-06-6694-01A-12D-1845-08 TCGA-06-6694-10A-01D-1845-08 g.chr12:121471350A>G c.395T>C c.(394-396)gTc>gCc p.V132A HNSC 12 121461833 121461833 + Missense_Mutation SNP T T C TCGA-BA-5556-01A-01D-1512-08 TCGA-BA-5556-10A-01D-1512-08 g.chr12:121461833T>C c.1007A>G c.(1006-1008)tAt>tGt p.Y336C HNSC 12 121465598 121465598 + Missense_Mutation SNP C C T TCGA-BA-6873-01A-11D-1870-08 TCGA-BA-6873-10A-01D-1870-08 g.chr12:121465598C>T c.680G>A c.(679-681)aGa>aAa p.R227K HNSC 12 121469368 121469368 + Missense_Mutation SNP G G C TCGA-CN-4723-01A-01D-1434-08 TCGA-CN-4723-10A-01D-1434-08 g.chr12:121469368G>C c.534C>G c.(532-534)atC>atG p.I178M KICH 12 121471492 121471492 + Missense_Mutation SNP C C A TCGA-KN-8419-01A-11D-2310-10 TCGA-KN-8419-11A-01D-2310-10 g.chr12:121471492C>A c.253G>T c.(253-255)Gtg>Ttg p.V85L KIPAN 12 121465530 121465530 + Nonsense_Mutation SNP C C A TCGA-BQ-5878-01A-11D-1589-08 TCGA-BQ-5878-11A-01D-1589-08 g.chr12:121465530C>A c.748G>T c.(748-750)Gaa>Taa p.E250* KIPAN 12 121471492 121471492 + Missense_Mutation SNP C C A TCGA-KN-8419-01A-11D-2310-10 TCGA-KN-8419-11A-01D-2310-10 g.chr12:121471492C>A c.253G>T c.(253-255)Gtg>Ttg p.V85L KIRP 12 121465530 121465530 + Nonsense_Mutation SNP C C A TCGA-BQ-5878-01A-11D-1589-08 TCGA-BQ-5878-11A-01D-1589-08 g.chr12:121465530C>A c.748G>T c.(748-750)Gaa>Taa p.E250* LGG 12 121461853 121461853 + Silent SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:121461853G>A c.987C>T c.(985-987)tgC>tgT p.C329C LGG 12 121461900 121461900 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:121461900C>A c.940G>T c.(940-942)Gca>Tca p.A314S LIHC 12 121458369 121458369 + Missense_Mutation SNP T T A TCGA-ED-A459-01A-11D-A25V-10 TCGA-ED-A459-10A-01D-A25V-10 g.chr12:121458369T>A c.1540A>T c.(1540-1542)Agt>Tgt p.S514C LIHC 12 121458371 121458371 + Missense_Mutation SNP G G C TCGA-ED-A459-01A-11D-A25V-10 TCGA-ED-A459-10A-01D-A25V-10 g.chr12:121458371G>C c.1538C>G c.(1537-1539)gCc>gGc p.A513G LIHC 12 121469367 121469367 + Missense_Mutation SNP T T C TCGA-FV-A2QR-01A-11D-A20W-10 TCGA-FV-A2QR-11A-11D-A20W-10 g.chr12:121469367T>C c.535A>G c.(535-537)Aag>Gag p.K179E LUAD 12 121461868 121461868 + Missense_Mutation SNP C C G TCGA-86-8358-01A-11D-2323-08 TCGA-86-8358-10A-01D-2323-08 g.chr12:121461868C>G c.972G>C c.(970-972)caG>caC p.Q324H LUAD 12 121461898 121461898 + Silent SNP T T A TCGA-17-Z062-01A-01W-0747-08 TCGA-17-Z062-11A-01W-0747-08 g.chr12:121461898T>A c.942A>T c.(940-942)gcA>gcT p.A314A LUAD 12 121465410 121465410 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr12:121465410C>A c.868G>T c.(868-870)Gat>Tat p.D290Y LUAD 12 121465411 121465411 + Missense_Mutation SNP C C A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr12:121465411C>A c.867G>T c.(865-867)gaG>gaT p.E289D LUAD 12 121465579 121465579 + Silent SNP G G C TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr12:121465579G>C c.699C>G c.(697-699)ctC>ctG p.L233L LUAD 12 121469249 121469249 + Missense_Mutation SNP T T G TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr12:121469249T>G c.653A>C c.(652-654)cAg>cCg p.Q218P LUAD 12 121469379 121469379 + Missense_Mutation SNP C C A TCGA-17-Z049-01A-01W-0746-08 TCGA-17-Z049-11A-01W-0747-08 g.chr12:121469379C>A c.523G>T c.(523-525)Gtg>Ttg p.V175L LUAD 12 121471372 121471372 + Missense_Mutation SNP C C A TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr12:121471372C>A c.373G>T c.(373-375)Gac>Tac p.D125Y LUAD 12 121476600 121476600 + Missense_Mutation SNP C C A TCGA-NJ-A4YI-01A-11D-A25L-08 TCGA-NJ-A4YI-10A-01D-A25L-08 g.chr12:121476600C>A c.175G>T c.(175-177)Gtg>Ttg p.V59L LUAD 12 121476663 121476663 + Missense_Mutation SNP G G A TCGA-97-A4M6-01A-11D-A24P-08 TCGA-97-A4M6-10A-01D-A24P-08 g.chr12:121476663G>A c.112C>T c.(112-114)Cgg>Tgg p.R38W LUSC 12 121465579 121465579 + Silent SNP G G C TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr12:121465579G>C c.699C>G c.(697-699)ctC>ctG p.L233L LUSC 12 121471503 121471503 + Missense_Mutation SNP T T G TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr12:121471503T>G c.242A>C c.(241-243)gAg>gCg p.E81A OV 12 121458606 121458606 + Nonsense_Mutation SNP G G A TCGA-24-1845-01A-01W-0639-09 TCGA-24-1845-10A-01W-0639-09 g.chr12:121458606G>A c.1303C>T c.(1303-1305)Cag>Tag p.Q435* OV 12 121469368 121469368 + Silent SNP G G A TCGA-61-1738-01A-01W-0639-09 TCGA-61-1738-11A-01W-0639-09 g.chr12:121469368G>A c.534C>T c.(532-534)atC>atT p.I178I PAAD 12 121458478 121458478 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:121458478T>G c.1431A>C c.(1429-1431)gaA>gaC p.E477D PAAD 12 121469326 121469326 + Silent SNP G G A TCGA-2L-AAQA-01A-21D-A38G-08 TCGA-2L-AAQA-11A-11D-A38J-08 g.chr12:121469326G>A c.576C>T c.(574-576)agC>agT p.S192S PRAD 12 121471396 121471396 + Missense_Mutation SNP C C T TCGA-HC-A6AO-01A-11D-A30E-08 TCGA-HC-A6AO-10A-01D-A30H-08 g.chr12:121471396C>T c.349G>A c.(349-351)Gac>Aac p.D117N PRAD 12 121476763 121476764 + Frame_Shift_Ins INS - - A TCGA-KC-A4BV-01A-31D-A26M-08 TCGA-KC-A4BV-10A-01D-A26K-08 g.chr12:121476763_121476764insA c.11_12insT c.(10-12)atgfs p.M4fs READ 12 121458598 121458598 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:121458598G>A c.1311C>T c.(1309-1311)ttC>ttT p.F437F READ 12 121469315 121469315 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:121469315C>A c.587G>T c.(586-588)aGa>aTa p.R196I SKCM 12 121458439 121458439 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:121458439C>T c.1470G>A c.(1468-1470)ggG>ggA p.G490G SKCM 12 121458456 121458456 + Missense_Mutation SNP C C T TCGA-D3-A3CB-06A-11D-A196-08 TCGA-D3-A3CB-10A-01D-A198-08 g.chr12:121458456C>T c.1453G>A c.(1453-1455)Gac>Aac p.D485N SKCM 12 121458471 121458471 + Missense_Mutation SNP C C T TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr12:121458471C>T c.1438G>A c.(1438-1440)Ggc>Agc p.G480S SKCM 12 121458587 121458587 + Missense_Mutation SNP G G A TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr12:121458587G>A c.1322C>T c.(1321-1323)cCt>cTt p.P441L SKCM 12 121458598 121458598 + Silent SNP G G A TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr12:121458598G>A c.1311C>T c.(1309-1311)ttC>ttT p.F437F SKCM 12 121458607 121458607 + Silent SNP G G A TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr12:121458607G>A c.1302C>T c.(1300-1302)atC>atT p.I434I SKCM 12 121458628 121458628 + Silent SNP C C T TCGA-D3-A2JF-06A-11D-A196-08 TCGA-D3-A2JF-10A-01D-A198-08 g.chr12:121458628C>T c.1281G>A c.(1279-1281)ctG>ctA p.L427L SKCM 12 121458759 121458759 + Missense_Mutation SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr12:121458759G>A c.1150C>T c.(1150-1152)Cgg>Tgg p.R384W SKCM 12 121465506 121465506 + Missense_Mutation SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr12:121465506C>T c.772G>A c.(772-774)Gaa>Aaa p.E258K SKCM 12 121465519 121465519 + Missense_Mutation SNP A A T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr12:121465519A>T c.759T>A c.(757-759)aaT>aaA p.N253K SKCM 12 121469298 121469298 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:121469298G>A c.604C>T c.(604-606)Cgg>Tgg p.R202W SKCM 12 121469308 121469308 + Silent SNP G G A TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr12:121469308G>A c.594C>T c.(592-594)ttC>ttT p.F198F SKCM 12 121469308 121469308 + Silent SNP G G A TCGA-D3-A3ML-06A-11D-A21A-08 TCGA-D3-A3ML-10A-01D-A21A-08 g.chr12:121469308G>A c.594C>T c.(592-594)ttC>ttT p.F198F SKCM 12 121469308 121469308 + Silent SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr12:121469308G>A c.594C>T c.(592-594)ttC>ttT p.F198F SKCM 12 121469308 121469308 + Silent SNP G G A TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr12:121469308G>A c.594C>T c.(592-594)ttC>ttT p.F198F SKCM 12 121469317 121469317 + Silent SNP C C T TCGA-EE-A2M5-06A-12D-A197-08 TCGA-EE-A2M5-10A-01D-A199-08 g.chr12:121469317C>T c.585G>A c.(583-585)caG>caA p.Q195Q SKCM 12 121471302 121471302 + Missense_Mutation SNP G G A TCGA-EE-A2MG-06A-11D-A197-08 TCGA-EE-A2MG-10A-01D-A199-08 g.chr12:121471302G>A c.443C>T c.(442-444)cCc>cTc p.P148L SKCM 12 121471315 121471315 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr12:121471315C>T c.430G>A c.(430-432)Ggg>Agg p.G144R SKCM 12 121471316 121471316 + Silent SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr12:121471316C>T c.429G>A c.(427-429)agG>agA p.R143R SKCM 12 121471316 121471316 + Silent SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr12:121471316C>T c.429G>A c.(427-429)agG>agA p.R143R SKCM 12 121471317 121471317 + Missense_Mutation SNP C C T TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr12:121471317C>T c.428G>A c.(427-429)aGg>aAg p.R143K SKCM 12 121471365 121471365 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr12:121471365C>T c.380G>A c.(379-381)aGg>aAg p.R127K SKCM 12 121471506 121471506 + Missense_Mutation SNP C C T TCGA-EE-A2MM-06A-11D-A196-08 TCGA-EE-A2MM-10A-01D-A198-08 g.chr12:121471506C>T c.239G>A c.(238-240)aGa>aAa p.R80K SKCM 12 121471527 121471527 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr12:121471527C>T c.218G>A c.(217-219)gGc>gAc p.G73D SKCM 12 121476582 121476582 + Missense_Mutation SNP C C G TCGA-EB-A44Q-06A-11D-A25O-08 TCGA-EB-A44Q-10A-01D-A25O-08 g.chr12:121476582C>G c.193G>C c.(193-195)Gtc>Ctc p.V65L

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 12 121454163 121454163 single base substitution G A downstream_gene_variant BLCA-US 12 121454196 121454196 single base substitution C T downstream_gene_variant BLCA-US 12 121454205 121454205 single base substitution G C downstream_gene_variant BLCA-US 12 121465473 121465473 single base substitution C T intron_variant BLCA-US 12 121465473 121465473 single base substitution C T missense_variant E269K 805G>A BLCA-US 12 121465572 121465572 single base substitution G C intron_variant BLCA-US 12 121465572 121465572 single base substitution G C missense_variant L236V 706C>G BRCA-EU 12 121454687 121454687 single base substitution T C downstream_gene_variant BRCA-EU 12 121456756 121456756 single base substitution C T downstream_gene_variant BRCA-EU 12 121456809 121456809 single base substitution G C downstream_gene_variant BRCA-EU 12 121456929 121456929 single base substitution T A downstream_gene_variant BRCA-EU 12 121457330 121457330 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 121457517 121457517 single base substitution T A downstream_gene_variant BRCA-EU 12 121457879 121457879 single base substitution C T downstream_gene_variant BRCA-EU 12 121458252 121458252 single base substitution G T 3_prime_UTR_variant BRCA-EU 12 121458252 121458252 single base substitution G T downstream_gene_variant BRCA-EU 12 121459685 121459685 single base substitution G A downstream_gene_variant BRCA-EU 12 121459685 121459685 single base substitution G A intron_variant BRCA-EU 12 121463096 121463096 single base substitution C G intron_variant BRCA-EU 12 121463187 121463187 single base substitution A T intron_variant BRCA-EU 12 121463334 121463334 single base substitution G A intron_variant BRCA-EU 12 121464607 121464607 single base substitution A T intron_variant BRCA-EU 12 121464860 121464860 single base substitution T G intron_variant BRCA-EU 12 121466132 121466132 single base substitution C G intron_variant BRCA-EU 12 121467537 121467537 single base substitution G A intron_variant BRCA-EU 12 121470492 121470492 single base substitution T A intron_variant BRCA-EU 12 121470523 121470523 insertion of <=200bp - T intron_variant BRCA-EU 12 121470685 121470685 single base substitution C G intron_variant BRCA-EU 12 121470778 121470778 single base substitution G C intron_variant BRCA-EU 12 121471854 121471854 single base substitution G A intron_variant BRCA-EU 12 121472321 121472321 single base substitution C T intron_variant BRCA-EU 12 121474088 121474088 single base substitution G A intron_variant BRCA-EU 12 121474966 121474966 single base substitution G A intron_variant BRCA-EU 12 121475497 121475497 single base substitution C T intron_variant BRCA-EU 12 121476313 121476313 single base substitution T C intron_variant BRCA-EU 12 121476743 121476743 single base substitution G T missense_variant P11Q 32C>A BRCA-EU 12 121476743 121476743 single base substitution G T synonymous_variant T2T 6C>A BRCA-EU 12 121476915 121476915 single base substitution G A 5_prime_UTR_variant BRCA-EU 12 121476915 121476915 single base substitution G A upstream_gene_variant BRCA-EU 12 121478792 121478792 single base substitution G A upstream_gene_variant BRCA-EU 12 121481213 121481213 single base substitution C G upstream_gene_variant BRCA-FR 12 121463096 121463096 single base substitution C G intron_variant BRCA-FR 12 121481213 121481213 single base substitution C G upstream_gene_variant BRCA-UK 12 121456929 121456929 single base substitution T A downstream_gene_variant BRCA-US 12 121458630 121458630 insertion of <=200bp - C 3_prime_UTR_variant BRCA-US 12 121458630 121458630 insertion of <=200bp - C downstream_gene_variant BRCA-US 12 121458630 121458630 insertion of <=200bp - C frameshift_variant L427R? BRCA-US 12 121458644 121458645 deletion of <=200bp GT - 3_prime_UTR_variant BRCA-US 12 121458644 121458645 deletion of <=200bp GT - downstream_gene_variant BRCA-US 12 121458644 121458645 deletion of <=200bp GT - frameshift_variant T422 BRCA-US 12 121458768 121458768 single base substitution C A 3_prime_UTR_variant BRCA-US 12 121458768 121458768 single base substitution C A downstream_gene_variant BRCA-US 12 121458768 121458768 single base substitution C A stop_gained E381* 1141G>T BRCA-US 12 121458802 121458802 single base substitution G A 3_prime_UTR_variant BRCA-US 12 121458802 121458802 single base substitution G A downstream_gene_variant BRCA-US 12 121458802 121458802 single base substitution G A synonymous_variant I369I 1107C>T BRCA-US 12 121461839 121461839 single base substitution C T missense_variant C334Y 1001G>A BRCA-US 12 121461839 121461839 single base substitution C T synonymous_variant L150L 450G>A BRCA-US 12 121461839 121461839 single base substitution C T synonymous_variant L253L 759G>A BRCA-US 12 121461911 121461911 single base substitution G C missense_variant H126Q 378C>G BRCA-US 12 121461911 121461911 single base substitution G C missense_variant H229Q 687C>G BRCA-US 12 121461911 121461911 single base substitution G C missense_variant T310S 929C>G BRCA-US 12 121469412 121469412 single base substitution G T missense_variant L164I 490C>A BRCA-US 12 121469412 121469412 single base substitution G T missense_variant L61I 181C>A BRCA-US 12 121471334 121471334 single base substitution G A intron_variant BRCA-US 12 121471334 121471334 single base substitution G A synonymous_variant V137V 411C>T BRCA-US 12 121471506 121471506 single base substitution C G intron_variant BRCA-US 12 121471506 121471506 single base substitution C G missense_variant R80T 239G>C BRCA-US 12 121476654 121476654 single base substitution C G missense_variant E41Q 121G>C BRCA-US 12 121476654 121476654 single base substitution C G missense_variant G32A 95G>C BTCA-JP 12 121465523 121465523 single base substitution T C intron_variant BTCA-JP 12 121465523 121465523 single base substitution T C missense_variant E252G 755A>G BTCA-JP 12 121471382 121471382 single base substitution G A intron_variant BTCA-JP 12 121471382 121471382 single base substitution G A synonymous_variant L121L 363C>T CESC-US 12 121454196 121454196 single base substitution C G downstream_gene_variant CESC-US 12 121454196 121454196 single base substitution C T downstream_gene_variant CESC-US 12 121471367 121471367 single base substitution C G intron_variant CESC-US 12 121471367 121471367 single base substitution C G synonymous_variant L126L 378G>C CLLE-ES 12 121466265 121466265 single base substitution T A intron_variant COAD-US 12 121458400 121458400 single base substitution C T 3_prime_UTR_variant COAD-US 12 121458400 121458400 single base substitution C T downstream_gene_variant COAD-US 12 121458400 121458400 single base substitution C T synonymous_variant S503S 1509G>A COAD-US 12 121458637 121458637 single base substitution G T 3_prime_UTR_variant COAD-US 12 121458637 121458637 single base substitution G T downstream_gene_variant COAD-US 12 121458637 121458637 single base substitution G T synonymous_variant I424I 1272C>A COAD-US 12 121471414 121471414 deletion of <=200bp T - frameshift_variant T111 COAD-US 12 121471414 121471414 deletion of <=200bp T - intron_variant COCA-CN 12 121454377 121454377 single base substitution G T downstream_gene_variant COCA-CN 12 121458555 121458555 single base substitution G T 3_prime_UTR_variant COCA-CN 12 121458555 121458555 single base substitution G T downstream_gene_variant COCA-CN 12 121458555 121458555 single base substitution G T missense_variant P452T 1354C>A COCA-CN 12 121469308 121469308 single base substitution G A synonymous_variant F198F 594C>T COCA-CN 12 121469308 121469308 single base substitution G A synonymous_variant F95F 285C>T COCA-CN 12 121471289 121471289 single base substitution G C intron_variant COCA-CN 12 121471289 121471289 single base substitution G C synonymous_variant T152T 456C>G EOPC-DE 12 121472271 121472271 single base substitution G A intron_variant EOPC-DE 12 121474886 121474886 single base substitution G A intron_variant ESAD-UK 12 121455264 121455264 deletion of <=200bp A - downstream_gene_variant ESAD-UK 12 121460454 121460454 single base substitution C A downstream_gene_variant ESAD-UK 12 121460454 121460454 single base substitution C A intron_variant ESAD-UK 12 121461381 121461381 single base substitution C G downstream_gene_variant ESAD-UK 12 121461381 121461381 single base substitution C G intron_variant ESAD-UK 12 121463389 121463389 single base substitution G A intron_variant ESAD-UK 12 121465217 121465217 single base substitution C A intron_variant ESAD-UK 12 121465372 121465372 single base substitution C T intron_variant ESAD-UK 12 121465372 121465372 single base substitution C T splice_region_variant ESAD-UK 12 121466696 121466696 single base substitution C T intron_variant ESAD-UK 12 121467384 121467384 single base substitution G A intron_variant ESAD-UK 12 121469690 121469690 single base substitution T G intron_variant ESAD-UK 12 121473902 121473902 single base substitution G T intron_variant ESAD-UK 12 121475190 121475190 single base substitution G A intron_variant ESAD-UK 12 121478347 121478347 single base substitution C A upstream_gene_variant ESAD-UK 12 121478985 121478985 single base substitution G T upstream_gene_variant ESAD-UK 12 121480150 121480150 single base substitution C T upstream_gene_variant GBM-US 12 121465457 121465457 single base substitution C G intron_variant GBM-US 12 121465457 121465457 single base substitution C G missense_variant C274S 821G>C GBM-US 12 121469372 121469372 single base substitution A G missense_variant L177P 530T>C GBM-US 12 121469372 121469372 single base substitution A G missense_variant L74P 221T>C GBM-US 12 121471350 121471350 single base substitution A G intron_variant GBM-US 12 121471350 121471350 single base substitution A G missense_variant V132A 395T>C KIRP-US 12 121465530 121465530 single base substitution C A intron_variant KIRP-US 12 121465530 121465530 single base substitution C A stop_gained E250* 748G>T LAML-KR 12 121455141 121455141 single base substitution C T downstream_gene_variant LICA-CN 12 121458741 121458741 single base substitution A C 3_prime_UTR_variant LICA-CN 12 121458741 121458741 single base substitution A C downstream_gene_variant LICA-CN 12 121458741 121458741 single base substitution A C missense_variant S390A 1168T>G LICA-FR 12 121454174 121454213 deletion of <=200bp CCCCAAGCCGGCATTGCCGCCTCGCGGCACCGCTCCAGCT - downstream_gene_variant LICA-FR 12 121461236 121461236 single base substitution C A downstream_gene_variant LICA-FR 12 121461236 121461236 single base substitution C A intron_variant LICA-FR 12 121465436 121465436 single base substitution T C intron_variant LICA-FR 12 121465436 121465436 single base substitution T C missense_variant Y281C 842A>G LICA-FR 12 121468320 121468320 single base substitution T C intron_variant LIHC-US 12 121458369 121458369 single base substitution T A 3_prime_UTR_variant LIHC-US 12 121458369 121458369 single base substitution T A downstream_gene_variant LIHC-US 12 121458369 121458369 single base substitution T A missense_variant S514C 1540A>T LIHC-US 12 121458371 121458371 single base substitution G C 3_prime_UTR_variant LIHC-US 12 121458371 121458371 single base substitution G C downstream_gene_variant LIHC-US 12 121458371 121458371 single base substitution G C missense_variant A513G 1538C>G LINC-JP 12 121455119 121455119 single base substitution A G downstream_gene_variant LINC-JP 12 121457372 121457372 single base substitution C A downstream_gene_variant LINC-JP 12 121458787 121458787 single base substitution C A 3_prime_UTR_variant LINC-JP 12 121458787 121458787 single base substitution C A downstream_gene_variant LINC-JP 12 121458787 121458787 single base substitution C A missense_variant E374D 1122G>T LINC-JP 12 121469419 121469419 single base substitution C T splice_region_variant LINC-JP 12 121471421 121471421 single base substitution T C intron_variant LINC-JP 12 121471421 121471421 single base substitution T C missense_variant I108M 324A>G LINC-JP 12 121476752 121476752 single base substitution T C missense_variant Y8C 23A>G LINC-JP 12 121476752 121476752 single base substitution T C upstream_gene_variant LINC-JP 12 121479936 121479936 single base substitution G T upstream_gene_variant LINC-JP 12 121481083 121481083 single base substitution A C upstream_gene_variant LIRI-JP 12 121453312 121453312 single base substitution C A downstream_gene_variant LIRI-JP 12 121454876 121454876 single base substitution G A downstream_gene_variant LIRI-JP 12 121455663 121455663 single base substitution C T downstream_gene_variant LIRI-JP 12 121456013 121456013 single base substitution G A downstream_gene_variant LIRI-JP 12 121458972 121458972 single base substitution G A downstream_gene_variant LIRI-JP 12 121458972 121458972 single base substitution G A intron_variant LIRI-JP 12 121459503 121459503 single base substitution A G downstream_gene_variant LIRI-JP 12 121459503 121459503 single base substitution A G intron_variant LIRI-JP 12 121460931 121460931 single base substitution T C downstream_gene_variant LIRI-JP 12 121460931 121460931 single base substitution T C intron_variant LIRI-JP 12 121461798 121461798 single base substitution C A 3_prime_UTR_variant LIRI-JP 12 121461798 121461798 single base substitution C A missense_variant V348L 1042G>T LIRI-JP 12 121464052 121464052 single base substitution T C intron_variant LIRI-JP 12 121464109 121464109 single base substitution A C intron_variant LIRI-JP 12 121465846 121465846 single base substitution A G intron_variant LIRI-JP 12 121467320 121467320 single base substitution T C intron_variant LIRI-JP 12 121470589 121470589 single base substitution T G intron_variant LIRI-JP 12 121471041 121471041 single base substitution T C intron_variant LIRI-JP 12 121471433 121471433 single base substitution A G intron_variant LIRI-JP 12 121471433 121471433 single base substitution A G synonymous_variant V104V 312T>C LIRI-JP 12 121472281 121472281 single base substitution T C intron_variant LIRI-JP 12 121473534 121473534 single base substitution C A intron_variant LIRI-JP 12 121474522 121474522 single base substitution C T intron_variant LIRI-JP 12 121475877 121475877 single base substitution G C intron_variant LIRI-JP 12 121475906 121475906 single base substitution C A intron_variant LIRI-JP 12 121476045 121476045 single base substitution C T intron_variant LIRI-JP 12 121477131 121477131 single base substitution G A upstream_gene_variant LIRI-JP 12 121479938 121479938 single base substitution G T upstream_gene_variant LUSC-KR 12 121454384 121454384 single base substitution G T downstream_gene_variant LUSC-KR 12 121464366 121464366 single base substitution G T intron_variant LUSC-KR 12 121464367 121464367 single base substitution G T intron_variant LUSC-KR 12 121466600 121466600 single base substitution C T intron_variant LUSC-KR 12 121469000 121469000 single base substitution A T intron_variant LUSC-KR 12 121471337 121471337 single base substitution G A intron_variant LUSC-KR 12 121471337 121471337 single base substitution G A synonymous_variant L136L 408C>T LUSC-KR 12 121476728 121476728 single base substitution T C missense_variant D16G 47A>G LUSC-KR 12 121476728 121476728 single base substitution T C synonymous_variant G7G 21A>G LUSC-KR 12 121479335 121479335 single base substitution G T upstream_gene_variant LUSC-US 12 121465579 121465579 single base substitution G C intron_variant LUSC-US 12 121465579 121465579 single base substitution G C synonymous_variant L233L 699C>G LUSC-US 12 121471503 121471503 single base substitution T G intron_variant LUSC-US 12 121471503 121471503 single base substitution T G missense_variant E81A 242A>C MALY-DE 12 121462652 121462652 single base substitution A G intron_variant MALY-DE 12 121476853 121476853 single base substitution T A 5_prime_UTR_variant MALY-DE 12 121476853 121476853 single base substitution T A upstream_gene_variant MALY-DE 12 121480962 121480962 single base substitution C A upstream_gene_variant MELA-AU 12 121453124 121453124 single base substitution G A downstream_gene_variant MELA-AU 12 121453314 121453314 single base substitution G A downstream_gene_variant MELA-AU 12 121453787 121453787 single base substitution G A downstream_gene_variant MELA-AU 12 121454272 121454272 single base substitution C T downstream_gene_variant MELA-AU 12 121454319 121454319 single base substitution C A downstream_gene_variant MELA-AU 12 121454343 121454343 single base substitution G A downstream_gene_variant MELA-AU 12 121454345 121454345 single base substitution G A downstream_gene_variant MELA-AU 12 121454347 121454347 single base substitution G A downstream_gene_variant MELA-AU 12 121454486 121454486 single base substitution G A downstream_gene_variant MELA-AU 12 121454833 121454833 single base substitution G A downstream_gene_variant MELA-AU 12 121455135 121455135 single base substitution C T downstream_gene_variant MELA-AU 12 121455445 121455445 single base substitution C T downstream_gene_variant MELA-AU 12 121455907 121455907 single base substitution T A downstream_gene_variant MELA-AU 12 121456091 121456091 single base substitution C T downstream_gene_variant MELA-AU 12 121456264 121456264 single base substitution G A downstream_gene_variant MELA-AU 12 121456288 121456288 single base substitution C T downstream_gene_variant MELA-AU 12 121456372 121456372 single base substitution C T downstream_gene_variant MELA-AU 12 121456462 121456462 single base substitution G A downstream_gene_variant MELA-AU 12 121456556 121456556 single base substitution C T downstream_gene_variant MELA-AU 12 121456595 121456595 single base substitution C T downstream_gene_variant MELA-AU 12 121456955 121456955 single base substitution C T downstream_gene_variant MELA-AU 12 121457390 121457390 single base substitution C T downstream_gene_variant MELA-AU 12 121457657 121457657 single base substitution G A downstream_gene_variant MELA-AU 12 121457681 121457681 single base substitution G A downstream_gene_variant MELA-AU 12 121457701 121457701 single base substitution G A downstream_gene_variant MELA-AU 12 121457813 121457813 single base substitution C T downstream_gene_variant MELA-AU 12 121458014 121458014 single base substitution G A downstream_gene_variant MELA-AU 12 121458128 121458128 single base substitution G A 3_prime_UTR_variant MELA-AU 12 121458128 121458128 single base substitution G A downstream_gene_variant MELA-AU 12 121458304 121458304 single base substitution T C 3_prime_UTR_variant MELA-AU 12 121458304 121458304 single base substitution T C downstream_gene_variant MELA-AU 12 121458375 121458375 single base substitution G A 3_prime_UTR_variant MELA-AU 12 121458375 121458375 single base substitution G A downstream_gene_variant MELA-AU 12 121458375 121458375 single base substitution G A missense_variant P512S 1534C>T MELA-AU 12 121458405 121458405 single base substitution G A 3_prime_UTR_variant MELA-AU 12 121458405 121458405 single base substitution G A downstream_gene_variant MELA-AU 12 121458405 121458405 single base substitution G A missense_variant L502F 1504C>T MELA-AU 12 121458618 121458618 single base substitution G A 3_prime_UTR_variant MELA-AU 12 121458618 121458618 single base substitution G A downstream_gene_variant MELA-AU 12 121458618 121458618 single base substitution G A missense_variant P431S 1291C>T MELA-AU 12 121458667 121458668 multiple base substitution (>=2bp and <=200bp) GG TA 3_prime_UTR_variant MELA-AU 12 121458667 121458668 multiple base substitution (>=2bp and <=200bp) GG TA downstream_gene_variant MELA-AU 12 121458667 121458668 multiple base substitution (>=2bp and <=200bp) GG TA missense_variant A414V 1241CC>TA MELA-AU 12 121458711 121458711 single base substitution G A 3_prime_UTR_variant MELA-AU 12 121458711 121458711 single base substitution G A downstream_gene_variant MELA-AU 12 121458711 121458711 single base substitution G A missense_variant P400S 1198C>T MELA-AU 12 121458740 121458740 single base substitution G A 3_prime_UTR_variant MELA-AU 12 121458740 121458740 single base substitution G A downstream_gene_variant MELA-AU 12 121458740 121458740 single base substitution G A missense_variant S390F 1169C>T MELA-AU 12 121458835 121458835 single base substitution C T 3_prime_UTR_variant MELA-AU 12 121458835 121458835 single base substitution C T downstream_gene_variant MELA-AU 12 121458835 121458835 single base substitution C T synonymous_variant V358V 1074G>A MELA-AU 12 121458854 121458854 single base substitution C T 3_prime_UTR_variant MELA-AU 12 121458854 121458854 single base substitution C T downstream_gene_variant MELA-AU 12 121458854 121458854 single base substitution C T missense_variant R352Q 1055G>A MELA-AU 12 121458865 121458865 single base substitution G A downstream_gene_variant MELA-AU 12 121458865 121458865 single base substitution G A intron_variant MELA-AU 12 121458992 121458992 single base substitution G A downstream_gene_variant MELA-AU 12 121458992 121458992 single base substitution G A intron_variant MELA-AU 12 121459032 121459032 single base substitution C T downstream_gene_variant MELA-AU 12 121459032 121459032 single base substitution C T intron_variant MELA-AU 12 121459112 121459113 deletion of <=200bp TG - downstream_gene_variant MELA-AU 12 121459112 121459113 deletion of <=200bp TG - intron_variant MELA-AU 12 121459361 121459361 single base substitution C T downstream_gene_variant MELA-AU 12 121459361 121459361 single base substitution C T intron_variant MELA-AU 12 121459603 121459603 single base substitution G A downstream_gene_variant MELA-AU 12 121459603 121459603 single base substitution G A intron_variant MELA-AU 12 121459645 121459645 single base substitution A T downstream_gene_variant MELA-AU 12 121459645 121459645 single base substitution A T intron_variant MELA-AU 12 121459741 121459741 single base substitution C G downstream_gene_variant MELA-AU 12 121459741 121459741 single base substitution C G intron_variant MELA-AU 12 121460025 121460025 single base substitution G A downstream_gene_variant MELA-AU 12 121460025 121460025 single base substitution G A intron_variant MELA-AU 12 121460081 121460081 single base substitution G C downstream_gene_variant MELA-AU 12 121460081 121460081 single base substitution G C intron_variant MELA-AU 12 121460716 121460716 single base substitution C T downstream_gene_variant MELA-AU 12 121460716 121460716 single base substitution C T intron_variant MELA-AU 12 121461303 121461303 single base substitution G A downstream_gene_variant MELA-AU 12 121461303 121461303 single base substitution G A intron_variant MELA-AU 12 121461363 121461363 single base substitution G A downstream_gene_variant MELA-AU 12 121461363 121461363 single base substitution G A intron_variant MELA-AU 12 121461411 121461411 single base substitution T C downstream_gene_variant MELA-AU 12 121461411 121461411 single base substitution T C intron_variant MELA-AU 12 121461907 121461907 single base substitution G A stop_gained Q128* 382C>T MELA-AU 12 121461907 121461907 single base substitution G A stop_gained Q231* 691C>T MELA-AU 12 121461907 121461907 single base substitution G A synonymous_variant L311L 933C>T MELA-AU 12 121461927 121461928 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G121K 361GG>AA MELA-AU 12 121461927 121461928 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant G224K 670GG>AA MELA-AU 12 121461927 121461928 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant LD304LN MELA-AU 12 121461952 121461952 single base substitution G A intron_variant MELA-AU 12 121462023 121462023 single base substitution C T intron_variant MELA-AU 12 121462529 121462529 single base substitution C T intron_variant MELA-AU 12 121463056 121463056 single base substitution G A intron_variant MELA-AU 12 121463131 121463132 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 121463142 121463142 single base substitution G A intron_variant MELA-AU 12 121463170 121463170 single base substitution C T intron_variant MELA-AU 12 121463267 121463267 single base substitution G A intron_variant MELA-AU 12 121463632 121463632 single base substitution G A intron_variant MELA-AU 12 121463765 121463765 single base substitution C T intron_variant MELA-AU 12 121463960 121463960 single base substitution G A intron_variant MELA-AU 12 121464068 121464068 single base substitution C T intron_variant MELA-AU 12 121464356 121464356 single base substitution G A intron_variant MELA-AU 12 121464574 121464574 single base substitution G A intron_variant MELA-AU 12 121464694 121464694 single base substitution C T intron_variant MELA-AU 12 121464973 121464973 single base substitution C T intron_variant MELA-AU 12 121465168 121465168 single base substitution G A intron_variant MELA-AU 12 121465241 121465241 single base substitution G T intron_variant MELA-AU 12 121465267 121465267 single base substitution G A intron_variant MELA-AU 12 121465467 121465467 single base substitution C T intron_variant MELA-AU 12 121465467 121465467 single base substitution C T missense_variant E271K 811G>A MELA-AU 12 121465522 121465522 single base substitution C T intron_variant MELA-AU 12 121465522 121465522 single base substitution C T synonymous_variant E252E 756G>A MELA-AU 12 121465840 121465840 single base substitution G A intron_variant MELA-AU 12 121465995 121465995 single base substitution G A intron_variant MELA-AU 12 121465996 121465996 single base substitution G A intron_variant MELA-AU 12 121466100 121466100 single base substitution G A intron_variant MELA-AU 12 121466986 121466986 single base substitution C T intron_variant MELA-AU 12 121467838 121467838 single base substitution T A intron_variant MELA-AU 12 121467862 121467862 single base substitution G A intron_variant MELA-AU 12 121468253 121468253 single base substitution C T intron_variant MELA-AU 12 121468272 121468273 multiple base substitution (>=2bp and <=200bp) GC CG intron_variant MELA-AU 12 121468572 121468572 single base substitution C T intron_variant MELA-AU 12 121469275 121469275 single base substitution G A synonymous_variant L106L 318C>T MELA-AU 12 121469275 121469275 single base substitution G A synonymous_variant L209L 627C>T MELA-AU 12 121469308 121469308 single base substitution G A synonymous_variant F198F 594C>T MELA-AU 12 121469308 121469308 single base substitution G A synonymous_variant F95F 285C>T MELA-AU 12 121469317 121469317 single base substitution C T synonymous_variant Q195Q 585G>A MELA-AU 12 121469317 121469317 single base substitution C T synonymous_variant Q92Q 276G>A MELA-AU 12 121469532 121469533 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 12 121469709 121469709 single base substitution G A intron_variant MELA-AU 12 121469888 121469888 single base substitution C T intron_variant MELA-AU 12 121469989 121469989 single base substitution C T intron_variant MELA-AU 12 121470046 121470046 single base substitution A G intron_variant MELA-AU 12 121470159 121470159 single base substitution G A intron_variant MELA-AU 12 121470433 121470433 single base substitution G A intron_variant MELA-AU 12 121470452 121470452 single base substitution C T intron_variant MELA-AU 12 121470610 121470610 single base substitution T A intron_variant MELA-AU 12 121470658 121470658 single base substitution T C intron_variant MELA-AU 12 121470753 121470753 single base substitution G A intron_variant MELA-AU 12 121471221 121471221 single base substitution G A intron_variant MELA-AU 12 121471506 121471506 single base substitution C T intron_variant MELA-AU 12 121471506 121471506 single base substitution C T missense_variant R80K 239G>A MELA-AU 12 121471722 121471722 single base substitution G A intron_variant MELA-AU 12 121471854 121471854 single base substitution G C intron_variant MELA-AU 12 121472190 121472190 single base substitution G A intron_variant MELA-AU 12 121472504 121472504 single base substitution C T intron_variant MELA-AU 12 121472686 121472686 single base substitution G A intron_variant MELA-AU 12 121472817 121472817 single base substitution C T intron_variant MELA-AU 12 121472840 121472840 single base substitution G A intron_variant MELA-AU 12 121473146 121473146 single base substitution G A intron_variant MELA-AU 12 121473521 121473521 single base substitution T C intron_variant MELA-AU 12 121473578 121473578 single base substitution C T intron_variant MELA-AU 12 121473728 121473728 single base substitution T G intron_variant MELA-AU 12 121474011 121474011 single base substitution A T intron_variant MELA-AU 12 121474346 121474346 single base substitution G A intron_variant MELA-AU 12 121474384 121474384 single base substitution C T intron_variant MELA-AU 12 121474546 121474546 single base substitution G A intron_variant MELA-AU 12 121474590 121474590 single base substitution C T intron_variant MELA-AU 12 121474630 121474630 single base substitution T C intron_variant MELA-AU 12 121475127 121475127 single base substitution G A intron_variant MELA-AU 12 121475691 121475691 single base substitution C T intron_variant MELA-AU 12 121475998 121475998 single base substitution C T intron_variant MELA-AU 12 121476942 121476942 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 121476942 121476942 single base substitution G A upstream_gene_variant MELA-AU 12 121476977 121476978 multiple base substitution (>=2bp and <=200bp) GG AG 5_prime_UTR_variant MELA-AU 12 121476977 121476978 multiple base substitution (>=2bp and <=200bp) GG AG upstream_gene_variant MELA-AU 12 121477099 121477099 single base substitution G A upstream_gene_variant MELA-AU 12 121477247 121477247 single base substitution T G upstream_gene_variant MELA-AU 12 121477359 121477359 single base substitution G T upstream_gene_variant MELA-AU 12 121477446 121477446 single base substitution A G upstream_gene_variant MELA-AU 12 121477475 121477475 single base substitution C A upstream_gene_variant MELA-AU 12 121478198 121478198 single base substitution T A upstream_gene_variant MELA-AU 12 121478423 121478423 single base substitution C T upstream_gene_variant MELA-AU 12 121478589 121478589 single base substitution A G upstream_gene_variant MELA-AU 12 121478690 121478690 single base substitution C T upstream_gene_variant MELA-AU 12 121478818 121478818 single base substitution G A upstream_gene_variant MELA-AU 12 121479978 121479978 single base substitution T C upstream_gene_variant MELA-AU 12 121480183 121480183 single base substitution G A upstream_gene_variant MELA-AU 12 121480920 121480920 single base substitution G A upstream_gene_variant MELA-AU 12 121480932 121480932 single base substitution G A upstream_gene_variant MELA-AU 12 121481058 121481058 single base substitution G A upstream_gene_variant MELA-AU 12 121481201 121481201 single base substitution G A upstream_gene_variant MELA-AU 12 121481232 121481232 single base substitution A T upstream_gene_variant MELA-AU 12 121481318 121481318 single base substitution C T upstream_gene_variant MELA-AU 12 121481320 121481320 single base substitution C T upstream_gene_variant MELA-AU 12 121481518 121481518 single base substitution G A upstream_gene_variant ORCA-IN 12 121454196 121454196 single base substitution C G downstream_gene_variant ORCA-IN 12 121468076 121468076 single base substitution C T intron_variant ORCA-IN 12 121477683 121477683 single base substitution T G upstream_gene_variant OV-AU 12 121462568 121462568 single base substitution A G intron_variant OV-AU 12 121463641 121463641 single base substitution A G intron_variant OV-AU 12 121465330 121465330 single base substitution G A intron_variant OV-AU 12 121466089 121466089 single base substitution G A intron_variant OV-AU 12 121466132 121466132 single base substitution C G intron_variant OV-AU 12 121479235 121479235 single base substitution G C upstream_gene_variant OV-AU 12 121481852 121481852 single base substitution G A upstream_gene_variant PACA-AU 12 121454093 121454093 single base substitution C T downstream_gene_variant PACA-AU 12 121457875 121457875 single base substitution C T downstream_gene_variant PACA-AU 12 121460678 121460678 single base substitution C G downstream_gene_variant PACA-AU 12 121460678 121460678 single base substitution C G intron_variant PACA-AU 12 121462585 121462585 single base substitution T C intron_variant PACA-AU 12 121468564 121468564 single base substitution G C intron_variant PACA-AU 12 121470171 121470171 single base substitution G C intron_variant PACA-AU 12 121475078 121475078 single base substitution G C intron_variant PACA-AU 12 121475788 121475788 single base substitution T A intron_variant PACA-AU 12 121477094 121477094 single base substitution G A upstream_gene_variant PACA-CA 12 121454935 121454935 single base substitution C A downstream_gene_variant PACA-CA 12 121456051 121456051 single base substitution G A downstream_gene_variant PACA-CA 12 121460211 121460211 single base substitution C T downstream_gene_variant PACA-CA 12 121460211 121460211 single base substitution C T intron_variant PACA-CA 12 121462190 121462190 single base substitution C T intron_variant PACA-CA 12 121471991 121471991 single base substitution C T intron_variant PACA-CA 12 121477005 121477005 single base substitution G A 5_prime_UTR_variant PACA-CA 12 121477005 121477005 single base substitution G A upstream_gene_variant PACA-CA 12 121477074 121477074 single base substitution T C upstream_gene_variant PACA-CA 12 121478136 121478136 single base substitution G A upstream_gene_variant PACA-CA 12 121479649 121479649 single base substitution C T upstream_gene_variant PACA-CA 12 121481354 121481354 single base substitution G A upstream_gene_variant PACA-CA 12 121481358 121481358 single base substitution C T upstream_gene_variant PAEN-AU 12 121481283 121481283 single base substitution G A upstream_gene_variant PAEN-IT 12 121481816 121481816 single base substitution G C upstream_gene_variant PBCA-DE 12 121458613 121458613 single base substitution G A 3_prime_UTR_variant PBCA-DE 12 121458613 121458613 single base substitution G A downstream_gene_variant PBCA-DE 12 121458613 121458613 single base substitution G A synonymous_variant S432S 1296C>T PBCA-DE 12 121459825 121459825 single base substitution G A downstream_gene_variant PBCA-DE 12 121459825 121459825 single base substitution G A intron_variant PBCA-DE 12 121460494 121460494 single base substitution A G downstream_gene_variant PBCA-DE 12 121460494 121460494 single base substitution A G intron_variant PBCA-DE 12 121462576 121462576 single base substitution G A intron_variant PBCA-DE 12 121463168 121463168 single base substitution G A intron_variant PBCA-DE 12 121466709 121466709 single base substitution A G intron_variant PBCA-DE 12 121467564 121467564 single base substitution G A intron_variant PBCA-DE 12 121468512 121468512 single base substitution T A intron_variant PBCA-DE 12 121468957 121468957 insertion of <=200bp - A intron_variant PBCA-DE 12 121472175 121472175 single base substitution G A intron_variant PBCA-DE 12 121473768 121473768 single base substitution C A intron_variant PBCA-DE 12 121474456 121474457 deletion of <=200bp AC - intron_variant PBCA-DE 12 121477095 121477095 single base substitution T C upstream_gene_variant PBCA-DE 12 121478671 121478671 single base substitution G T upstream_gene_variant PRAD-CA 12 121455142 121455142 single base substitution G A downstream_gene_variant PRAD-CA 12 121470685 121470685 single base substitution C A intron_variant PRAD-CA 12 121470872 121470872 single base substitution C T intron_variant PRAD-UK 12 121457832 121457832 single base substitution G A downstream_gene_variant PRAD-US 12 121471396 121471396 single base substitution C T intron_variant PRAD-US 12 121471396 121471396 single base substitution C T missense_variant D117N 349G>A READ-US 12 121454184 121454184 single base substitution G A downstream_gene_variant READ-US 12 121458597 121458597 single base substitution C T 3_prime_UTR_variant READ-US 12 121458597 121458597 single base substitution C T downstream_gene_variant READ-US 12 121458597 121458597 single base substitution C T missense_variant V438M 1312G>A RECA-EU 12 121478029 121478029 single base substitution C T upstream_gene_variant RECA-EU 12 121480853 121480853 single base substitution C A upstream_gene_variant SKCA-BR 12 121454388 121454388 single base substitution T G downstream_gene_variant SKCA-BR 12 121457832 121457832 single base substitution G A downstream_gene_variant SKCA-BR 12 121458612 121458612 single base substitution C T 3_prime_UTR_variant SKCA-BR 12 121458612 121458612 single base substitution C T downstream_gene_variant SKCA-BR 12 121458612 121458612 single base substitution C T missense_variant E433K 1297G>A SKCA-BR 12 121459198 121459198 single base substitution C T downstream_gene_variant SKCA-BR 12 121459198 121459198 single base substitution C T intron_variant SKCA-BR 12 121460529 121460529 single base substitution C T downstream_gene_variant SKCA-BR 12 121460529 121460529 single base substitution C T intron_variant SKCA-BR 12 121461093 121461093 insertion of <=200bp - TTTC downstream_gene_variant SKCA-BR 12 121461093 121461093 insertion of <=200bp - TTTC intron_variant SKCA-BR 12 121461094 121461094 insertion of <=200bp - TC downstream_gene_variant SKCA-BR 12 121461094 121461094 insertion of <=200bp - TC intron_variant SKCA-BR 12 121461277 121461277 single base substitution G A downstream_gene_variant SKCA-BR 12 121461277 121461277 single base substitution G A intron_variant SKCA-BR 12 121463562 121463562 insertion of <=200bp - TA intron_variant SKCA-BR 12 121464559 121464559 single base substitution G A intron_variant SKCA-BR 12 121466433 121466433 single base substitution G C intron_variant SKCA-BR 12 121468583 121468583 single base substitution G A intron_variant SKCA-BR 12 121469557 121469557 single base substitution C A intron_variant SKCA-BR 12 121469653 121469653 single base substitution C T intron_variant SKCA-BR 12 121470819 121470819 single base substitution C T intron_variant SKCA-BR 12 121471376 121471376 single base substitution G A intron_variant SKCA-BR 12 121471376 121471376 single base substitution G A synonymous_variant L123L 369C>T SKCA-BR 12 121471999 121471999 insertion of <=200bp - CTT intron_variant SKCA-BR 12 121473326 121473326 insertion of <=200bp - TAAACAAAACA intron_variant SKCA-BR 12 121473343 121473343 insertion of <=200bp - CA intron_variant SKCA-BR 12 121477612 121477612 single base substitution C T upstream_gene_variant SKCA-BR 12 121479687 121479687 insertion of <=200bp - CAA upstream_gene_variant SKCA-BR 12 121480932 121480932 single base substitution G A upstream_gene_variant SKCA-BR 12 121481571 121481573 deletion of <=200bp CAA - upstream_gene_variant SKCM-US 12 121454215 121454215 single base substitution C T downstream_gene_variant SKCM-US 12 121454265 121454265 single base substitution T C downstream_gene_variant SKCM-US 12 121458439 121458439 single base substitution C T 3_prime_UTR_variant SKCM-US 12 121458439 121458439 single base substitution C T downstream_gene_variant SKCM-US 12 121458439 121458439 single base substitution C T synonymous_variant G490G 1470G>A SKCM-US 12 121458456 121458456 single base substitution C T 3_prime_UTR_variant SKCM-US 12 121458456 121458456 single base substitution C T downstream_gene_variant SKCM-US 12 121458456 121458456 single base substitution C T missense_variant D485N 1453G>A SKCM-US 12 121458471 121458471 single base substitution C T 3_prime_UTR_variant SKCM-US 12 121458471 121458471 single base substitution C T downstream_gene_variant SKCM-US 12 121458471 121458471 single base substitution C T missense_variant G480S 1438G>A SKCM-US 12 121458598 121458598 single base substitution G A 3_prime_UTR_variant SKCM-US 12 121458598 121458598 single base substitution G A downstream_gene_variant SKCM-US 12 121458598 121458598 single base substitution G A synonymous_variant F437F 1311C>T SKCM-US 12 121458607 121458607 single base substitution G A 3_prime_UTR_variant SKCM-US 12 121458607 121458607 single base substitution G A downstream_gene_variant SKCM-US 12 121458607 121458607 single base substitution G A synonymous_variant I434I 1302C>T SKCM-US 12 121458628 121458628 single base substitution C T 3_prime_UTR_variant SKCM-US 12 121458628 121458628 single base substitution C T downstream_gene_variant SKCM-US 12 121458628 121458628 single base substitution C T synonymous_variant L427L 1281G>A SKCM-US 12 121458759 121458759 single base substitution G A 3_prime_UTR_variant SKCM-US 12 121458759 121458759 single base substitution G A downstream_gene_variant SKCM-US 12 121458759 121458759 single base substitution G A missense_variant R384W 1150C>T SKCM-US 12 121465506 121465506 single base substitution C T intron_variant SKCM-US 12 121465506 121465506 single base substitution C T missense_variant E258K 772G>A SKCM-US 12 121465519 121465519 single base substitution A T intron_variant SKCM-US 12 121465519 121465519 single base substitution A T missense_variant N253K 759T>A SKCM-US 12 121469298 121469298 single base substitution G A missense_variant R202W 604C>T SKCM-US 12 121469298 121469298 single base substitution G A missense_variant R99W 295C>T SKCM-US 12 121469308 121469308 single base substitution G A synonymous_variant F198F 594C>T SKCM-US 12 121469308 121469308 single base substitution G A synonymous_variant F95F 285C>T SKCM-US 12 121469317 121469317 single base substitution C T synonymous_variant Q195Q 585G>A SKCM-US 12 121469317 121469317 single base substitution C T synonymous_variant Q92Q 276G>A SKCM-US 12 121471302 121471302 single base substitution G A intron_variant SKCM-US 12 121471302 121471302 single base substitution G A missense_variant P148L 443C>T SKCM-US 12 121471365 121471365 single base substitution C T intron_variant SKCM-US 12 121471365 121471365 single base substitution C T missense_variant R127K 380G>A SKCM-US 12 121471375 121471375 single base substitution C T intron_variant SKCM-US 12 121471375 121471375 single base substitution C T missense_variant E124K 370G>A SKCM-US 12 121471506 121471506 single base substitution C T intron_variant SKCM-US 12 121471506 121471506 single base substitution C T missense_variant R80K 239G>A SKCM-US 12 121471527 121471527 single base substitution C T intron_variant SKCM-US 12 121471527 121471527 single base substitution C T missense_variant G73D 218G>A SKCM-US 12 121471539 121471539 single base substitution G A intron_variant SKCM-US 12 121471539 121471539 single base substitution G A missense_variant S69F 206C>T SKCM-US 12 121476582 121476582 single base substitution C G missense_variant S56T 167G>C SKCM-US 12 121476582 121476582 single base substitution C G missense_variant V65L 193G>C STAD-US 12 121458498 121458498 single base substitution T A 3_prime_UTR_variant STAD-US 12 121458498 121458498 single base substitution T A downstream_gene_variant STAD-US 12 121458498 121458498 single base substitution T A stop_gained K471* 1411A>T STAD-US 12 121458569 121458569 single base substitution G A 3_prime_UTR_variant STAD-US 12 121458569 121458569 single base substitution G A downstream_gene_variant STAD-US 12 121458569 121458569 single base substitution G A missense_variant A447V 1340C>T STAD-US 12 121458651 121458651 single base substitution A C 3_prime_UTR_variant STAD-US 12 121458651 121458651 single base substitution A C downstream_gene_variant STAD-US 12 121458651 121458651 single base substitution A C missense_variant S420A 1258T>G STAD-US 12 121461798 121461798 single base substitution C T 3_prime_UTR_variant STAD-US 12 121461798 121461798 single base substitution C T missense_variant V348M 1042G>A STAD-US 12 121476748 121476748 single base substitution G A missense_variant H1Y 1C>T STAD-US 12 121476748 121476748 single base substitution G A synonymous_variant S9S 27C>T UCEC-US 12 121458383 121458383 single base substitution G T 3_prime_UTR_variant UCEC-US 12 121458383 121458383 single base substitution G T downstream_gene_variant UCEC-US 12 121458383 121458383 single base substitution G T missense_variant A509D 1526C>A UCEC-US 12 121458577 121458577 single base substitution C A 3_prime_UTR_variant UCEC-US 12 121458577 121458577 single base substitution C A downstream_gene_variant UCEC-US 12 121458577 121458577 single base substitution C A synonymous_variant G444G 1332G>T UCEC-US 12 121458637 121458637 single base substitution G T 3_prime_UTR_variant UCEC-US 12 121458637 121458637 single base substitution G T downstream_gene_variant UCEC-US 12 121458637 121458637 single base substitution G T synonymous_variant I424I 1272C>A UCEC-US 12 121458668 121458668 single base substitution G A 3_prime_UTR_variant UCEC-US 12 121458668 121458668 single base substitution G A downstream_gene_variant UCEC-US 12 121458668 121458668 single base substitution G A missense_variant A414V 1241C>T UCEC-US 12 121461876 121461876 single base substitution C T missense_variant R138H 413G>A UCEC-US 12 121461876 121461876 single base substitution C T missense_variant R241H 722G>A UCEC-US 12 121461876 121461876 single base substitution C T missense_variant V322I 964G>A UCEC-US 12 121461904 121461904 single base substitution G A missense_variant R129C 385C>T UCEC-US 12 121461904 121461904 single base substitution G A missense_variant R232C 694C>T UCEC-US 12 121461904 121461904 single base substitution G A synonymous_variant N312N 936C>T UCEC-US 12 121465490 121465490 single base substitution A G intron_variant UCEC-US 12 121465490 121465490 single base substitution A G missense_variant V263A 788T>C UCEC-US 12 121465607 121465607 single base substitution C A intron_variant UCEC-US 12 121465607 121465607 single base substitution C A missense_variant R224M 671G>T UCEC-US 12 121471382 121471382 single base substitution G A intron_variant UCEC-US 12 121471382 121471382 single base substitution G A synonymous_variant L121L 363C>T UCEC-US 12 121471448 121471448 single base substitution C T intron_variant UCEC-US 12 121471448 121471448 single base substitution C T synonymous_variant K99K 297G>A UCEC-US 12 121476745 121476745 single base substitution T C missense_variant T2A 4A>G UCEC-US 12 121476745 121476745 single base substitution T C synonymous_variant T10T 30A>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 587224 COSM1218151 c.1055G>A p.R352Q Substitution - Missense 12:121021051-121021051 - HCC160T COSM3703903 c.483G>A p.G161G Substitution - coding silent 12:121031616-121031616 - TCGA-Q1-A73O-01 COSM4835817 c.378G>C p.L126L Substitution - coding silent 12:121033564-121033564 - BD72T COSM935990 c.363C>T p.L121L Substitution - coding silent 12:121033579-121033579 - I2L-P7-Tumor-Organoid COSM5361970 c.631C>T p.R211C Substitution - Missense 12:121031468-121031468 - TCGA-C8-A1HM-01 COSM430525 c.490C>A p.L164I Substitution - Missense 12:121031609-121031609 - LUAD_E00623 COSM353793 c.1343A>G p.Y448C Substitution - Missense 12:121020763-121020763 - TCGA-18-3421-01 COSM691754 c.242A>C p.E81A Substitution - Missense 12:121033700-121033700 - sysucc-1213T COSM5764269 c.456C>G p.T152T Substitution - coding silent 12:121033486-121033486 - Pat_41_B COSM5840327 c.1297G>A p.E433K Substitution - Missense 12:121020809-121020809 - HCC160 COSM3703903 c.483G>A p.G161G Substitution - coding silent 12:121031616-121031616 - TCGA-EE-A181-06 COSM1299013 c.1150C>T p.R384W Substitution - Missense 12:121020956-121020956 - TCGA-AP-A0LG-01 COSM935992 c.257C>T p.A86V Substitution - Missense 12:121033685-121033685 - T3724 COSM4039435 c.1042G>A p.V348M Substitution - Missense 12:121023995-121023995 - 2293784 COSM4609575 c.707T>C p.L236P Substitution - Missense 12:121027768-121027768 - YUPAT COSM1706380 c.772G>A p.E258K Substitution - Missense 12:121027703-121027703 - YUPAT COSM1706379 c.1292C>T p.P431L Substitution - Missense 12:121020814-121020814 - LP6005409-DNA_G03 COSM4409042 c.899+7G>A p.? Unknown 12:121027569-121027569 - TCGA-AX-A0J1-01 COSM935981 c.1526C>A p.A509D Substitution - Missense 12:121020580-121020580 - C086 COSM5535805 c.1082G>A p.R361K Substitution - Missense 12:121021024-121021024 - TCGA-EE-A3AB-06 COSM2175543 c.594C>T p.F198F Substitution - coding silent 12:121031505-121031505 - TCGA-06-6694-01 COSM3747914 c.395T>C p.V132A Substitution - Missense 12:121033547-121033547 - HCC135T COSM3703904 c.324A>G p.I108M Substitution - Missense 12:121033618-121033618 - TCGA-D3-A2JF-06 COSM3457122 c.1302C>T p.I434I Substitution - coding silent 12:121020804-121020804 - TCGA-D3-A3ML-06 COSM2175543 c.594C>T p.F198F Substitution - coding silent 12:121031505-121031505 - TCGA-EE-A2GJ-06 COSM2175543 c.594C>T p.F198F Substitution - coding silent 12:121031505-121031505 - TCGA-D1-A17R-01 COSM935982 c.1425G>A p.Q475Q Substitution - coding silent 12:121020681-121020681 - T3479 COSM2175537 c.780C>T p.F260F Substitution - coding silent 12:121027695-121027695 - CSCC-40-T COSM4542881 c.326G>A p.W109* Substitution - Nonsense 12:121033616-121033616 - TCGA-EE-A3AF-06 COSM177839 c.1311C>T p.F437F Substitution - coding silent 12:121020795-121020795 - TCGA-AP-A0LM-01 COSM935988 c.788T>C p.V263A Substitution - Missense 12:121027687-121027687 - TCGA-AP-A0LM-01 COSM935990 c.363C>T p.L121L Substitution - coding silent 12:121033579-121033579 - HCC15T COSM1605661 c.1122G>T p.E374D Substitution - Missense 12:121020984-121020984 - TCGA-AG-4021-01 COSM3416550 c.1312G>A p.V438M Substitution - Missense 12:121020794-121020794 - G4 COSM1191620 c.193G>C p.V65L Substitution - Missense 12:121038779-121038779 - TCGA-BR-4292-01 COSM4039434 c.1258T>G p.S420A Substitution - Missense 12:121020848-121020848 - TCGA-AP-A0LM-01 COSM935985 c.1241C>T p.A414V Substitution - Missense 12:121020865-121020865 - TCGA-G9-6342-01 COSM3670992 c.211G>T p.G71W Substitution - Missense 12:121033731-121033731 - CSCC-7-T COSM4460996 c.1188C>T p.S396S Substitution - coding silent 12:121020918-121020918 - CCK81 COSM2175521 c.1419G>A p.Q473Q Substitution - coding silent 12:121020687-121020687 - TCGA-D3-A2JF-06 COSM3457123 c.1281G>A p.L427L Substitution - coding silent 12:121020825-121020825 - LUAD-RT-S01831 COSM384269 c.981C>A p.S327S Substitution - coding silent 12:121024056-121024056 - TCGA-ED-A459-01 COSM4935790 c.1540A>T p.S514C Substitution - Missense 12:121020566-121020566 - cSCCP6 COSM136921 c.1120G>T p.E374* Substitution - Nonsense 12:121020986-121020986 - HCC15 COSM1605661 c.1122G>T p.E374D Substitution - Missense 12:121020984-121020984 - TCGA-61-1738-01 COSM1322705 c.534C>T p.I178I Substitution - coding silent 12:121031565-121031565 - TCGA-GV-A3JX-01 COSM1299014 c.706C>G p.L236V Substitution - Missense 12:121027769-121027769 - TCGA-FW-A3R5-06 COSM3870930 c.1470G>A p.G490G Substitution - coding silent 12:121020636-121020636 - TCGA-EE-A2MJ-06 COSM1706380 c.772G>A p.E258K Substitution - Missense 12:121027703-121027703 - TCGA-76-4932-01 COSM3398445 c.530T>C p.L177P Substitution - Missense 12:121031569-121031569 - TCGA-C8-A12X-01 COSM430524 c.1001G>A p.C334Y Substitution - Missense 12:121024036-121024036 - TCGA-D3-A3C7-06 COSM2175543 c.594C>T p.F198F Substitution - coding silent 12:121031505-121031505 - TCGA-EE-A2MM-06 COSM3457128 c.239G>A p.R80K Substitution - Missense 12:121033703-121033703 - QC2-03-T2 COSM5651791 c.1541G>C p.S514T Substitution - Missense 12:121020565-121020565 - TCGA-BQ-5878-01 COSM3986694 c.748G>T p.E250* Substitution - Nonsense 12:121027727-121027727 - sysucc-918T COSM5453443 c.1354C>A p.P452T Substitution - Missense 12:121020752-121020752 - PT33 COSM5909272 c.1483C>T p.Q495* Substitution - Nonsense 12:121020623-121020623 - TCGA-AP-A051-01 COSM935986 c.964G>A p.V322I Substitution - Missense 12:121024073-121024073 - TCGA-EB-A3Y7-01 COSM2175555 c.206C>T p.S69F Substitution - Missense 12:121033736-121033736 - T55 COSM4708939 c.450G>A p.T150T Substitution - coding silent 12:121033492-121033492 - GHE0436 COSM5713689 c.99G>A p.V33V Substitution - coding silent 12:121038873-121038873 - S02194 COSM5674787 c.834C>A p.T278T Substitution - coding silent 12:121027641-121027641 - CSCC-5-T COSM4549479 c.473G>A p.R158K Substitution - Missense 12:121033469-121033469 - 3N50-VS-3T50 COSM3416550 c.1312G>A p.V438M Substitution - Missense 12:121020794-121020794 - PT15_1 COSM5897852 c.754G>A p.E252K Substitution - Missense 12:121027721-121027721 - TCGA-D7-6820-01 COSM4039432 c.1411A>T p.K471* Substitution - Nonsense 12:121020695-121020695 - TCGA-FW-A3R5-06 COSM3870931 c.604C>T p.R202W Substitution - Missense 12:121031495-121031495 - 6115118 COSM5551921 c.753C>T p.D251D Substitution - coding silent 12:121027722-121027722 - TCGA-AP-A051-01 COSM935983 c.1332G>T p.G444G Substitution - coding silent 12:121020774-121020774 - TCGA-EE-A2MG-06 COSM3457126 c.443C>T p.P148L Substitution - Missense 12:121033499-121033499 - Pat_46_A COSM5840328 c.1291C>T p.P431S Substitution - Missense 12:121020815-121020815 - COLO-205 COSM1677411 c.1138A>G p.K380E Substitution - Missense 12:121020968-121020968 - TCGA-BH-A0HF-01 COSM3811242 c.411C>T p.V137V Substitution - coding silent 12:121033531-121033531 - TCGA-AN-A046-01 COSM3811240 c.1107C>T p.I369I Substitution - coding silent 12:121020999-121020999 - ATL059 COSM3416550 c.1312G>A p.V438M Substitution - Missense 12:121020794-121020794 - TCGA-GD-A3OP-01 COSM1299013 c.1150C>T p.R384W Substitution - Missense 12:121020956-121020956 - RK263_C01 COSM4780044 c.1042G>T p.V348L Substitution - Missense 12:121023995-121023995 - TCGA-EE-A182-06 COSM3457121 c.1438G>A p.G480S Substitution - Missense 12:121020668-121020668 - TCGA-GF-A6C9-06 COSM4900972 c.218G>A p.G73D Substitution - Missense 12:121033724-121033724 - TCGA-BR-8680-01 COSM4039433 c.1340C>T p.A447V Substitution - Missense 12:121020766-121020766 - TCGA-DK-A3WW-01 COSM3792266 c.805G>A p.E269K Substitution - Missense 12:121027670-121027670 - TCGA-GF-A6C9-06 COSM4899525 c.380G>A p.R127K Substitution - Missense 12:121033562-121033562 - CSCC-18-T COSM4545723 c.384G>A p.M128I Substitution - Missense 12:121033558-121033558 - T3724 COSM4708940 c.420C>A p.I140I Substitution - coding silent 12:121033522-121033522 - TCGA-AN-A049-01 COSM5831991 c.1264_1265delAC p.T422fs*20 Deletion - Frameshift 12:121020841-121020842 - TCGA-F1-6874-01 COSM4039436 c.27C>T p.S9S Substitution - coding silent 12:121038945-121038945 - 12T COSM108199 c.381G>A p.R127R Substitution - coding silent 12:121033561-121033561 - QGP1 COSM1218151 c.1055G>A p.R352Q Substitution - Missense 12:121021051-121021051 - 394 COSM3722843 c.1390G>C p.E464Q Substitution - Missense 12:121020716-121020716 - TCGA-AP-A056-01 COSM935993 c.30A>G p.T10T Substitution - coding silent 12:121038942-121038942 - ICC009T COSM5823481 c.1168T>G p.S390A Substitution - Missense 12:121020938-121020938 - S02350 COSM5200158 c.1515G>A p.K505K Substitution - coding silent 12:121020591-121020591 - TCGA-B5-A11N-01 COSM935991 c.297G>A p.K99K Substitution - coding silent 12:121033645-121033645 - CHC1154T COSM4952078 c.842A>G p.Y281C Substitution - Missense 12:121027633-121027633 - ESO-1059 COSM1259772 c.1011C>T p.D337D Substitution - coding silent 12:121024026-121024026 - TCGA-BF-A1PV-01 COSM3457127 c.370G>A p.E124K Substitution - Missense 12:121033572-121033572 - LUAD-S00488 COSM394949 c.605G>A p.R202Q Substitution - Missense 12:121031494-121031494 - TCGA-D1-A177-01 COSM935987 c.936C>T p.N312N Substitution - coding silent 12:121024101-121024101 - 2186 COSM5017048 c.740G>A p.G247D Substitution - Missense 12:121027735-121027735 - TCGA-AA-A010-01 COSM283464 c.485C>A p.P162H Substitution - Missense 12:121031614-121031614 - TCGA-CA-6717-01 COSM935984 c.1272C>A p.I424I Substitution - coding silent 12:121020834-121020834 - CHC1154T COSM4952078 c.842A>G p.Y281C Substitution - Missense 12:121027633-121027633 - LUAD-NYU408 COSM374129 c.793G>C p.D265H Substitution - Missense 12:121027682-121027682 - HCC2998 COSM1677412 c.761T>G p.F254C Substitution - Missense 12:121027714-121027714 - TCGA-EB-A44Q-06 COSM1191620 c.193G>C p.V65L Substitution - Missense 12:121038779-121038779 - BN37T COSM1605662 c.23A>G p.Y8C Substitution - Missense 12:121038949-121038949 - CSCC-38-T COSM4459445 c.1125C>T p.P375P Substitution - coding silent 12:121020981-121020981 - TCGA-AM-5821-01 COSM3752965 c.1509G>A p.S503S Substitution - coding silent 12:121020597-121020597 - TCGA-66-2785-01 COSM546676 c.699C>G p.L233L Substitution - coding silent 12:121027776-121027776 - TCGA-ED-A459-01 COSM4935489 c.1538C>G p.A513G Substitution - Missense 12:121020568-121020568 - HCC2998 COSM1677412 c.761T>G p.F254C Substitution - Missense 12:121027714-121027714 - ESO-717 COSM1242593 c.1525G>A p.A509T Substitution - Missense 12:121020581-121020581 - TCGA-D1-A17Q-01 COSM935984 c.1272C>A p.I424I Substitution - coding silent 12:121020834-121020834 - BN37 COSM1605662 c.23A>G p.Y8C Substitution - Missense 12:121038949-121038949 - TCGA-EE-A2MR-06 COSM3457124 c.759T>A p.N253K Substitution - Missense 12:121027716-121027716 - CSCC-27-T COSM4567352 c.675_676CC>TT p.P226S Substitution - Missense 12:121027799-121027800 - TCGA-F4-6856-01 COSM1359424 c.331delA p.T111fs*16 Deletion - Frameshift 12:121033611-121033611 - CSCC-10-T COSM4522419 c.1161G>A p.R387R Substitution - coding silent 12:121020945-121020945 - Pat_16_B COSM5840326 c.1373G>A p.G458D Substitution - Missense 12:121020733-121020733 - TCGA-AC-A2QH-01 COSM5831990 c.1278_1279insG p.L427fs*16 Insertion - Frameshift 12:121020827-121020828 - TCGA-HC-A6AO-01 COSM4392314 c.349G>A p.D117N Substitution - Missense 12:121033593-121033593 - ME049T COSM230267 c.1123C>T p.P375S Substitution - Missense 12:121020983-121020983 - PTC-7C COSM4146722 c.408C>T p.L136L Substitution - coding silent 12:121033534-121033534 - I2L-P7-Tumor-Organoid COSM5367833 c.859_860insA p.I287fs*3 Insertion - Frameshift 12:121027615-121027616 - TCGA-EE-A2M5-06 COSM3457125 c.585G>A p.Q195Q Substitution - coding silent 12:121031514-121031514 - TCGA-D1-A103-01 COSM935989 c.671G>T p.R224M Substitution - Missense 12:121027804-121027804 - PD12803a COSM3770067 c.1026C>T p.P342P Substitution - coding silent 12:121024011-121024011 - T2269 COSM935992 c.257C>T p.A86V Substitution - Missense 12:121033685-121033685 - TCGA-AC-A23H-01 COSM3811244 c.121G>C p.E41Q Substitution - Missense 12:121038851-121038851 - KM12 COSM2175542 c.630G>A p.L210L Substitution - coding silent 12:121031469-121031469 - YUHEF COSM1706381 c.327G>A p.W109* Substitution - Nonsense 12:121033615-121033615 - RK169_C01 COSM3700223 c.312T>C p.V104V Substitution - coding silent 12:121033630-121033630 - 587332 COSM1218152 c.998A>G p.D333G Substitution - Missense 12:121024039-121024039 - HCC135 COSM3703904 c.324A>G p.I108M Substitution - Missense 12:121033618-121033618 - TCGA-AN-A046-01 COSM3811239 c.1141G>T p.E381* Substitution - Nonsense 12:121020965-121020965 - TCGA-AC-A23H-01 COSM3811243 c.239G>C p.R80T Substitution - Missense 12:121033703-121033703 - CSCC-27-T COSM4468256 c.1534C>T p.P512S Substitution - Missense 12:121020572-121020572 - YUROC COSM5374399 c.455C>T p.T152I Substitution - Missense 12:121033487-121033487 - TCGA-28-2513-01 COSM3398444 c.821G>C p.C274S Substitution - Missense 12:121027654-121027654 - TCGA-24-1845-01 COSM1322706 c.1303C>T p.Q435* Substitution - Nonsense 12:121020803-121020803 - PT50 COSM5937572 c.481+7G>A p.? Unknown 12:121033454-121033454 - GC_342T_a-GC_342N COSM2175538 c.771C>T p.D257D Substitution - coding silent 12:121027704-121027704 - ESCC_45 COSM5630270 c.1180C>T p.R394C Substitution - Missense 12:121020926-121020926 - BHY COSM2175536 c.781A>T p.T261S Substitution - Missense 12:121027694-121027694 - TCGA-BF-A1PV-01 COSM2175543 c.594C>T p.F198F Substitution - coding silent 12:121031505-121031505 - TCGA-HU-8602-01 COSM4039435 c.1042G>A p.V348M Substitution - Missense 12:121023995-121023995 - YUPLA COSM3457122 c.1302C>T p.I434I Substitution - coding silent 12:121020804-121020804 - TCGA-AC-A23G-01 COSM3811241 c.929C>G p.T310S Substitution - Missense 12:121024108-121024108 - TCGA-D3-A3CB-06 COSM3457120 c.1453G>A p.D485N Substitution - Missense 12:121020653-121020653 - CSCC-27-T COSM4513191 c.929C>T p.T310I Substitution - Missense 12:121024108-121024108 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.118633 12q24.2 603281

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.S420A c.1258T>G 12 121458651 STAD - A Frameshift p.M4Ifs*6 c.11dupT 12 121476764 PRAD A G Missense p.L177P c.530T>C 12 121469372 GBM A G Missense p.V132A c.395T>C 12 121471350 GBM C A Missense p.V175L c.523G>T 12 121469379 LUAD CC AA MultiAAMissense p.M246_G247delinsIC c.738_739delinsTT 12 121465539 CM CC TT Missense p.G144R c.429_430delinsAA 12 121471315 CM CC TT Missense p.R143K c.428_429delinsAA 12 121471316 CM C G Missense p.C274S c.821G>C 12 121465457 GBM C T Missense p.A36T c.106G>A 12 121476669 BRCA C T Missense p.C334Y c.1001G>A 12 121461839 BRCA C T Missense p.D117N c.349G>A 12 121471396 PRAD C T Missense p.D485N c.1453G>A 12 121458456 CM C T Missense p.E124K c.370G>A 12 121471375 CM C T Missense p.E258K c.772G>A 12 121465506 CM C T Missense p.G444E c.1331G>A 12 121458578 CM C T Missense p.G480S c.1438G>A 12 121458471 BRCA C T Missense p.G480S c.1438G>A 12 121458471 CM C T Missense p.R227K c.680G>A 12 121465598 HNSC C T Missense p.R80K c.239G>A 12 121471506 CM C T Synonymous p.L105L c.315G>A 12 121471430 CM C T Synonymous p.L427L c.1281G>A 12 121458628 CM C T Synonymous p.Q195Q c.585G>A 12 121469317 CM G A 5-UTRSNV . c.1-119C>T 12 121476893 CM G A Missense p.P148L c.443C>T 12 121471302 CM G A Missense p.P375S c.1123C>T 12 121458786 CM G A Missense p.P441L c.1322C>T 12 121458587 CM G A Missense p.R384W c.1150C>T 12 121458759 BLCA G A Missense p.R384W c.1150C>T 12 121458759 CM G A Missense p.S412F c.1235C>T 12 121458674 CM G A Synonymous p.D337D c.1011C>T 12 121461829 ESCA G A Synonymous p.F198F c.594C>T 12 121469308 CM G A Synonymous p.F437F c.1311C>T 12 121458598 CM G A Synonymous p.I434I c.1302C>T 12 121458607 CM G A Synonymous p.I491I c.1473C>T 12 121458436 CM G A Synonymous p.L123L c.369C>T 12 121471376 CM G A Synonymous p.N312N c.936C>T 12 121461904 UCEC G A Synonymous p.S9S c.27C>T 12 121476748 STAD G C Missense p.L236V c.706C>G 12 121465572 BLCA G C Synonymous p.L233L c.699C>G 12 121465579 LUAD GG TT Missense p.P133Q c.398_399delinsAA 12 121471346 CM G T Synonymous p.P133P c.399C>A 12 121471346 CM T A Nonsense p.K471* c.1411A>T 12 121458498 STAD T A Synonymous p.A314A c.942A>T 12 121461898 LUAD T C Missense p.Y336C c.1007A>G 12 121461833 HNSC T G Missense p.E81A c.242A>C 12 121471503 LUSC