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 ACC 1 161130593 161130593 + Missense_Mutation SNP C C T TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr1:161130593C>T c.163C>T c.(163-165)Cgg>Tgg p.R55W ACC 1 161130942 161130942 + Missense_Mutation SNP G G A TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr1:161130942G>A c.512G>A c.(511-513)aGc>aAc p.S171N BLCA 1 161130470 161130470 + Missense_Mutation SNP G G C TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr1:161130470G>C c.40G>C c.(40-42)Gag>Cag p.E14Q BLCA 1 161130596 161130596 + Missense_Mutation SNP C C T TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 g.chr1:161130596C>T c.166C>T c.(166-168)Cca>Tca p.P56S BLCA 1 161130796 161130796 + Missense_Mutation SNP G G A TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr1:161130796G>A c.366G>A c.(364-366)atG>atA p.M122I BLCA 1 161131831 161131831 + Missense_Mutation SNP C C T TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr1:161131831C>T c.604C>T c.(604-606)Cat>Tat p.H202Y BLCA 1 161132413 161132413 + Missense_Mutation SNP G G C TCGA-E7-A7DV-01A-11D-A339-08 TCGA-E7-A7DV-10A-01D-A339-08 g.chr1:161132413G>C c.790G>C c.(790-792)Gat>Cat p.D264H BLCA 1 161132481 161132481 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr1:161132481C>T c.858C>T c.(856-858)gtC>gtT p.V286V BLCA 1 161132715 161132715 + Silent SNP G G A TCGA-GC-A3OO-01A-11D-A22Z-08 TCGA-GC-A3OO-10C-01D-A22Z-08 g.chr1:161132715G>A c.900G>A c.(898-900)caG>caA p.Q300Q BLCA 1 161132742 161132742 + Silent SNP C C G TCGA-XF-AAN5-01A-11D-A42E-08 TCGA-XF-AAN5-10A-01D-A42H-08 g.chr1:161132742C>G c.927C>G c.(925-927)ctC>ctG p.L309L BLCA 1 161134643 161134643 + Missense_Mutation SNP C C T TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr1:161134643C>T c.1403C>T c.(1402-1404)gCc>gTc p.A468V BLCA 1 161134932 161134932 + Splice_Site SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr1:161134932C>T c.1606C>T c.(1606-1608)Cgt>Tgt p.R536C BRCA 1 161132413 161132413 + Missense_Mutation SNP G G C TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chr1:161132413G>C c.790G>C c.(790-792)Gat>Cat p.D264H BRCA 1 161132851 161132851 + Nonsense_Mutation SNP G G T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr1:161132851G>T c.1036G>T c.(1036-1038)Gaa>Taa p.E346* BRCA 1 161133349 161133349 + Missense_Mutation SNP G G T TCGA-AN-A0FV-01A-11W-A019-09 TCGA-AN-A0FV-10A-01W-A021-09 g.chr1:161133349G>T c.1054G>T c.(1054-1056)Gat>Tat p.D352Y BRCA 1 161133388 161133388 + Nonsense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr1:161133388C>T c.1093C>T c.(1093-1095)Cga>Tga p.R365* BRCA 1 161134356 161134356 + Frame_Shift_Del DEL T T - TCGA-AR-A0TS-01A-11D-A10Y-09 TCGA-AR-A0TS-10A-01D-A110-09 g.chr1:161134356delT c.1338delT c.(1336-1338)agtfs p.S446fs CESC 1 161133352 161133352 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr1:161133352G>A c.1057G>A c.(1057-1059)Gac>Aac p.D353N CESC 1 161134399 161134399 + Missense_Mutation SNP C C T TCGA-EK-A2RO-01A-11D-A18J-09 TCGA-EK-A2RO-10A-01D-A18J-09 g.chr1:161134399C>T c.1381C>T c.(1381-1383)Ctc>Ttc p.L461F CHOL 1 161130441 161130441 + Missense_Mutation SNP C C T TCGA-3X-AAVC-01A-21D-A417-09 TCGA-3X-AAVC-10A-01D-A41A-09 g.chr1:161130441C>T c.11C>T c.(10-12)gCc>gTc p.A4V COAD 1 161130594 161130594 + Missense_Mutation SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr1:161130594G>A c.164G>A c.(163-165)cGg>cAg p.R55Q COAD 1 161130594 161130594 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr1:161130594G>A c.164G>A c.(163-165)cGg>cAg p.R55Q COAD 1 161130705 161130705 + Missense_Mutation SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr1:161130705G>A c.275G>A c.(274-276)gGc>gAc p.G92D COAD 1 161130716 161130716 + Missense_Mutation SNP C C A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:161130716C>A c.286C>A c.(286-288)Cca>Aca p.P96T COAD 1 161130804 161130804 + Missense_Mutation SNP C C T TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr1:161130804C>T c.374C>T c.(373-375)gCc>gTc p.A125V COAD 1 161130857 161130857 + Missense_Mutation SNP G G A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr1:161130857G>A c.427G>A c.(427-429)Gcc>Acc p.A143T COAD 1 161130861 161130861 + Missense_Mutation SNP T T A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:161130861T>A c.431T>A c.(430-432)cTc>cAc p.L144H COAD 1 161130965 161130965 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:161130965T>C c.535T>C c.(535-537)Tcc>Ccc p.S179P COAD 1 161132064 161132064 + Missense_Mutation SNP T T C TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr1:161132064T>C c.665T>C c.(664-666)tTc>tCc p.F222S COAD 1 161133353 161133353 + Missense_Mutation SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr1:161133353A>G c.1058A>G c.(1057-1059)gAc>gGc p.D353G COAD 1 161133967 161133967 + Missense_Mutation SNP G G T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr1:161133967G>T c.1232G>T c.(1231-1233)gGg>gTg p.G411V COAD 1 161134865 161134865 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr1:161134865C>T c.1539C>T c.(1537-1539)agC>agT p.S513S COADREAD 1 161130594 161130594 + Missense_Mutation SNP G G A TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr1:161130594G>A c.164G>A c.(163-165)cGg>cAg p.R55Q COADREAD 1 161130594 161130594 + Missense_Mutation SNP G G A TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr1:161130594G>A c.164G>A c.(163-165)cGg>cAg p.R55Q COADREAD 1 161130705 161130705 + Missense_Mutation SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr1:161130705G>A c.275G>A c.(274-276)gGc>gAc p.G92D COADREAD 1 161130716 161130716 + Missense_Mutation SNP C C A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:161130716C>A c.286C>A c.(286-288)Cca>Aca p.P96T COADREAD 1 161130804 161130804 + Missense_Mutation SNP C C T TCGA-G4-6310-01A-11D-1719-10 TCGA-G4-6310-10A-01D-1720-10 g.chr1:161130804C>T c.374C>T c.(373-375)gCc>gTc p.A125V COADREAD 1 161130857 161130857 + Missense_Mutation SNP G G A TCGA-CM-4746-01A-01D-1408-10 TCGA-CM-4746-10A-01D-1408-10 g.chr1:161130857G>A c.427G>A c.(427-429)Gcc>Acc p.A143T COADREAD 1 161130861 161130861 + Missense_Mutation SNP T T A TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr1:161130861T>A c.431T>A c.(430-432)cTc>cAc p.L144H COADREAD 1 161130911 161130911 + Missense_Mutation SNP G G A TCGA-AF-6655-01A-11D-1826-10 TCGA-AF-6655-10A-01D-1826-10 g.chr1:161130911G>A c.481G>A c.(481-483)Ggg>Agg p.G161R COADREAD 1 161130965 161130965 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:161130965T>C c.535T>C c.(535-537)Tcc>Ccc p.S179P COADREAD 1 161132064 161132064 + Missense_Mutation SNP T T C TCGA-AZ-6599-01A-11D-1771-10 TCGA-AZ-6599-11A-01D-1771-10 g.chr1:161132064T>C c.665T>C c.(664-666)tTc>tCc p.F222S COADREAD 1 161133353 161133353 + Missense_Mutation SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr1:161133353A>G c.1058A>G c.(1057-1059)gAc>gGc p.D353G COADREAD 1 161133967 161133967 + Missense_Mutation SNP G G T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr1:161133967G>T c.1232G>T c.(1231-1233)gGg>gTg p.G411V COADREAD 1 161134865 161134865 + Silent SNP C C T TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr1:161134865C>T c.1539C>T c.(1537-1539)agC>agT p.S513S ESCA 1 161132109 161132109 + Missense_Mutation SNP G G A TCGA-L5-A4OU-01A-11D-A28B-09 TCGA-L5-A4OU-11A-11D-A28E-09 g.chr1:161132109G>A c.710G>A c.(709-711)cGg>cAg p.R237Q ESCA 1 161133747 161133747 + Missense_Mutation SNP T T G TCGA-LN-A4A9-01A-11D-A28B-09 TCGA-LN-A4A9-10A-01D-A28E-09 g.chr1:161133747T>G c.1194T>G c.(1192-1194)tgT>tgG p.C398W GBMLGG 1 161130759 161130759 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:161130759G>A c.329G>A c.(328-330)cGt>cAt p.R110H GBMLGG 1 161132502 161132504 + In_Frame_Del DEL CTT CTT - TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 g.chr1:161132502_161132504delCTT c.879_881delCTT c.(877-882)tccttc>tcc p.F294del GBMLGG 1 161134625 161134625 + Splice_Site SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:161134625A>T c.1385A>T c.(1384-1386)cAt>cTt p.H462L HNSC 1 161130531 161130531 + Missense_Mutation SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 g.chr1:161130531G>A c.101G>A c.(100-102)cGc>cAc p.R34H HNSC 1 161130737 161130737 + Missense_Mutation SNP C C T TCGA-MT-A67D-01A-31D-A30E-08 TCGA-MT-A67D-10A-01D-A30H-08 g.chr1:161130737C>T c.307C>T c.(307-309)Cca>Tca p.P103S HNSC 1 161132797 161132798 + Frame_Shift_Ins INS - - T TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 g.chr1:161132797_161132798insT c.982_983insT c.(982-984)cttfs p.L328fs HNSC 1 161133693 161133693 + Silent SNP T T C TCGA-H7-A6C5-01A-11D-A30E-08 TCGA-H7-A6C5-10A-01D-A30H-08 g.chr1:161133693T>C c.1140T>C c.(1138-1140)agT>agC p.S380S KICH 1 161132827 161132827 + Missense_Mutation SNP C C T TCGA-KL-8333-01A-11D-2310-10 TCGA-KL-8333-11A-01D-2310-10 g.chr1:161132827C>T c.1012C>T c.(1012-1014)Cgc>Tgc p.R338C KIPAN 1 161132827 161132827 + Missense_Mutation SNP C C T TCGA-KL-8333-01A-11D-2310-10 TCGA-KL-8333-11A-01D-2310-10 g.chr1:161132827C>T c.1012C>T c.(1012-1014)Cgc>Tgc p.R338C KIPAN 1 161134659 161134660 + Frame_Shift_Ins INS - - A TCGA-B0-4828-01A-01D-1361-10 TCGA-B0-4828-11A-01D-1361-10 g.chr1:161134659_161134660insA c.1419_1420insA c.(1420-1422)aaafs p.K474fs KIRC 1 161134659 161134660 + Frame_Shift_Ins INS - - A TCGA-B0-4828-01A-01D-1361-10 TCGA-B0-4828-11A-01D-1361-10 g.chr1:161134659_161134660insA c.1419_1420insA c.(1420-1422)aaafs p.K474fs LGG 1 161130759 161130759 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:161130759G>A c.329G>A c.(328-330)cGt>cAt p.R110H LGG 1 161132502 161132504 + In_Frame_Del DEL CTT CTT - TCGA-DB-5275-01A-01D-1468-08 TCGA-DB-5275-10A-01D-1468-08 g.chr1:161132502_161132504delCTT c.879_881delCTT c.(877-882)tccttc>tcc p.F294del LGG 1 161134625 161134625 + Splice_Site SNP A A T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:161134625A>T c.1385A>T c.(1384-1386)cAt>cTt p.H462L LIHC 1 161130443 161130443 + Missense_Mutation SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr1:161130443T>C c.13T>C c.(13-15)Tct>Cct p.S5P LIHC 1 161132173 161132173 + Silent SNP C C T TCGA-MI-A75I-01A-11D-A32G-10 TCGA-MI-A75I-10A-01D-A32G-10 g.chr1:161132173C>T c.774C>T c.(772-774)ctC>ctT p.L258L LIHC 1 161134345 161134345 + Frame_Shift_Del DEL A A - TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr1:161134345delA c.1327delA c.(1327-1329)aaafs p.K443fs LIHC 1 161134677 161134677 + Silent SNP T T C TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr1:161134677T>C c.1437T>C c.(1435-1437)ggT>ggC p.G479G LUAD 1 161130616 161130616 + Silent SNP G G T TCGA-05-5428-01A-01D-1625-08 TCGA-05-5428-10A-01D-1625-08 g.chr1:161130616G>T c.186G>T c.(184-186)cgG>cgT p.R62R LUAD 1 161130660 161130660 + Missense_Mutation SNP G G T TCGA-69-7979-01A-11D-2184-08 TCGA-69-7979-10A-01D-2184-08 g.chr1:161130660G>T c.230G>T c.(229-231)cGt>cTt p.R77L LUAD 1 161130689 161130689 + Missense_Mutation SNP G G A TCGA-78-7633-01A-11D-2063-08 TCGA-78-7633-10A-01D-2063-08 g.chr1:161130689G>A c.259G>A c.(259-261)Ggg>Agg p.G87R LUAD 1 161132087 161132087 + Missense_Mutation SNP C C G TCGA-97-A4M2-01A-12D-A24P-08 TCGA-97-A4M2-10A-01D-A24P-08 g.chr1:161132087C>G c.688C>G c.(688-690)Ctg>Gtg p.L230V LUAD 1 161132420 161132420 + Missense_Mutation SNP T T C TCGA-50-5931-01A-11D-1753-08 TCGA-50-5931-11A-01D-1753-08 g.chr1:161132420T>C c.797T>C c.(796-798)aTt>aCt p.I266T LUAD 1 161134865 161134865 + Silent SNP C C T TCGA-44-7660-01A-11D-2063-08 TCGA-44-7660-10A-01D-2063-08 g.chr1:161134865C>T c.1539C>T c.(1537-1539)agC>agT p.S513S LUAD 1 161134896 161134896 + Missense_Mutation SNP C C T TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr1:161134896C>T c.1570C>T c.(1570-1572)Cgg>Tgg p.R524W LUSC 1 161130856 161130856 + Missense_Mutation SNP G G T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr1:161130856G>T c.426G>T c.(424-426)ttG>ttT p.L142F LUSC 1 161130911 161130911 + Missense_Mutation SNP G G T TCGA-34-5231-01A-21D-1817-08 TCGA-34-5231-10A-01D-1817-08 g.chr1:161130911G>T c.481G>T c.(481-483)Ggg>Tgg p.G161W LUSC 1 161132464 161132464 + Missense_Mutation SNP A A T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 g.chr1:161132464A>T c.841A>T c.(841-843)Act>Tct p.T281S LUSC 1 161133756 161133756 + Silent SNP C C T TCGA-60-2713-01A-01D-1522-08 TCGA-60-2713-11A-01D-1522-08 g.chr1:161133756C>T c.1203C>T c.(1201-1203)tcC>tcT p.S401S LUSC 1 161134932 161134932 + Splice_Site SNP C C T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr1:161134932C>T c.1606C>T c.(1606-1608)Cgt>Tgt p.R536C OV 1 161130804 161130804 + Missense_Mutation SNP C C T TCGA-24-1435-01A-01W-0549-09 TCGA-24-1435-10A-01W-0549-09 g.chr1:161130804C>T c.374C>T c.(373-375)gCc>gTc p.A125V OV 1 161130818 161130818 + Missense_Mutation SNP C C T TCGA-61-2088-01A-01W-0722-08 TCGA-61-2088-11A-01W-0722-08 g.chr1:161130818C>T c.388C>T c.(388-390)Cgt>Tgt p.R130C OV 1 161132065 161132065 + Silent SNP C C T TCGA-13-0755-01A-01W-0372-09 TCGA-13-0755-10A-01W-0372-09 g.chr1:161132065C>T c.666C>T c.(664-666)ttC>ttT p.F222F PAAD 1 161130902 161130902 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:161130902C>T c.472C>T c.(472-474)Cgc>Tgc p.R158C PAAD 1 161133729 161133729 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:161133729G>A c.1176G>A c.(1174-1176)acG>acA p.T392T PAAD 1 161135183 161135183 + Silent SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:161135183C>T c.1644C>T c.(1642-1644)agC>agT p.S548S READ 1 161130911 161130911 + Missense_Mutation SNP G G A TCGA-AF-6655-01A-11D-1826-10 TCGA-AF-6655-10A-01D-1826-10 g.chr1:161130911G>A c.481G>A c.(481-483)Ggg>Agg p.G161R SKCM 1 161130441 161130441 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr1:161130441C>T c.11C>T c.(10-12)gCc>gTc p.A4V SKCM 1 161130677 161130677 + Nonsense_Mutation SNP C C T TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr1:161130677C>T c.247C>T c.(247-249)Cga>Tga p.R83* SKCM 1 161130686 161130686 + Missense_Mutation SNP C C T TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chr1:161130686C>T c.256C>T c.(256-258)Cat>Tat p.H86Y SKCM 1 161130921 161130921 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 g.chr1:161130921C>T c.491C>T c.(490-492)cCt>cTt p.P164L SKCM 1 161130934 161130934 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr1:161130934C>T c.504C>T c.(502-504)acC>acT p.T168T SKCM 1 161132788 161132788 + Missense_Mutation SNP C C T TCGA-FR-A3YO-06A-11D-A23B-08 TCGA-FR-A3YO-10A-01D-A23B-08 g.chr1:161132788C>T c.973C>T c.(973-975)Cca>Tca p.P325S SKCM 1 161133674 161133674 + Missense_Mutation SNP T T G TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr1:161133674T>G c.1121T>G c.(1120-1122)tTt>tGt p.F374C SKCM 1 161133736 161133736 + Missense_Mutation SNP G G A TCGA-DA-A1HY-06A-11D-A19A-08 TCGA-DA-A1HY-10A-01D-A19A-08 g.chr1:161133736G>A c.1183G>A c.(1183-1185)Gag>Aag p.E395K SKCM 1 161133953 161133953 + Splice_Site SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr1:161133953G>A c.e9-1 SKCM 1 161133981 161133981 + Silent SNP C C T TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr1:161133981C>T c.1246C>T c.(1246-1248)Ctg>Ttg p.L416L SKCM 1 161134339 161134339 + Missense_Mutation SNP C C T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 g.chr1:161134339C>T c.1321C>T c.(1321-1323)Cgg>Tgg p.R441W SKCM 1 161135152 161135152 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:161135152C>T c.1613C>T c.(1612-1614)tCc>tTc p.S538F

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 161130608 161130608 single base substitution G A exon_variant BLCA-CN 1 161130608 161130608 single base substitution G A missense_variant D60N 178G>A BLCA-CN 1 161130608 161130608 single base substitution G A upstream_gene_variant BLCA-CN 1 161131019 161131019 single base substitution G C downstream_gene_variant BLCA-CN 1 161131019 161131019 single base substitution G C exon_variant BLCA-CN 1 161131019 161131019 single base substitution G C missense_variant D197H 589G>C BLCA-CN 1 161131019 161131019 single base substitution G C upstream_gene_variant BLCA-CN 1 161132126 161132126 single base substitution A T downstream_gene_variant BLCA-CN 1 161132126 161132126 single base substitution A T exon_variant BLCA-CN 1 161132126 161132126 single base substitution A T missense_variant R243W 727A>T BLCA-CN 1 161132126 161132126 single base substitution A T upstream_gene_variant BLCA-CN 1 161133684 161133684 single base substitution G C downstream_gene_variant BLCA-CN 1 161133684 161133684 single base substitution G C exon_variant BLCA-CN 1 161133684 161133684 single base substitution G C missense_variant Q377H 1131G>C BLCA-CN 1 161134827 161134827 single base substitution G A downstream_gene_variant BLCA-CN 1 161134827 161134827 single base substitution G A exon_variant BLCA-CN 1 161134827 161134827 single base substitution G A intron_variant BLCA-CN 1 161134827 161134827 single base substitution G A missense_variant V501I 1501G>A BLCA-CN 1 161139745 161139745 single base substitution G C downstream_gene_variant BLCA-US 1 161130596 161130596 single base substitution C T exon_variant BLCA-US 1 161130596 161130596 single base substitution C T missense_variant P56S 166C>T BLCA-US 1 161130596 161130596 single base substitution C T upstream_gene_variant BLCA-US 1 161130796 161130796 single base substitution G A downstream_gene_variant BLCA-US 1 161130796 161130796 single base substitution G A intron_variant BLCA-US 1 161130796 161130796 single base substitution G A missense_variant M122I 366G>A BLCA-US 1 161130796 161130796 single base substitution G A upstream_gene_variant BLCA-US 1 161132715 161132715 single base substitution G A downstream_gene_variant BLCA-US 1 161132715 161132715 single base substitution G A exon_variant BLCA-US 1 161132715 161132715 single base substitution G A synonymous_variant Q300Q 900G>A BLCA-US 1 161132715 161132715 single base substitution G A upstream_gene_variant BLCA-US 1 161137269 161137269 single base substitution G T downstream_gene_variant BLCA-US 1 161138284 161138284 single base substitution C T downstream_gene_variant BLCA-US 1 161138959 161138959 single base substitution G C downstream_gene_variant BLCA-US 1 161139803 161139803 single base substitution C G downstream_gene_variant BOCA-FR 1 161134763 161134763 single base substitution C G downstream_gene_variant BOCA-FR 1 161134763 161134763 single base substitution C G intron_variant BOCA-FR 1 161135962 161135962 single base substitution T C downstream_gene_variant BRCA-EU 1 161124454 161124454 single base substitution C T upstream_gene_variant BRCA-EU 1 161124467 161124467 single base substitution G A upstream_gene_variant BRCA-EU 1 161124610 161124610 single base substitution C G upstream_gene_variant BRCA-EU 1 161124962 161124962 single base substitution G C upstream_gene_variant BRCA-EU 1 161124991 161124991 single base substitution G T upstream_gene_variant BRCA-EU 1 161126063 161126063 single base substitution C G upstream_gene_variant BRCA-EU 1 161126939 161126939 single base substitution C A upstream_gene_variant BRCA-EU 1 161127108 161127108 single base substitution G A upstream_gene_variant BRCA-EU 1 161128809 161128809 single base substitution T A upstream_gene_variant BRCA-EU 1 161128906 161128906 single base substitution T C upstream_gene_variant BRCA-EU 1 161129239 161129239 single base substitution A T upstream_gene_variant BRCA-EU 1 161129658 161129658 single base substitution C G intron_variant BRCA-EU 1 161129658 161129658 single base substitution C G upstream_gene_variant BRCA-EU 1 161130073 161130073 single base substitution C G intron_variant BRCA-EU 1 161130073 161130073 single base substitution C G upstream_gene_variant BRCA-EU 1 161130348 161130349 deletion of <=200bp AC - intron_variant BRCA-EU 1 161130348 161130349 deletion of <=200bp AC - upstream_gene_variant BRCA-EU 1 161131262 161131262 single base substitution C T downstream_gene_variant BRCA-EU 1 161131262 161131262 single base substitution C T exon_variant BRCA-EU 1 161131262 161131262 single base substitution C T intron_variant BRCA-EU 1 161131262 161131262 single base substitution C T upstream_gene_variant BRCA-EU 1 161132886 161132886 single base substitution T C downstream_gene_variant BRCA-EU 1 161132886 161132886 single base substitution T C intron_variant BRCA-EU 1 161132886 161132886 single base substitution T C upstream_gene_variant BRCA-EU 1 161132946 161132946 single base substitution G A downstream_gene_variant BRCA-EU 1 161132946 161132946 single base substitution G A intron_variant BRCA-EU 1 161132946 161132946 single base substitution G A upstream_gene_variant BRCA-EU 1 161134629 161134629 single base substitution G C downstream_gene_variant BRCA-EU 1 161134629 161134629 single base substitution G C exon_variant BRCA-EU 1 161134629 161134629 single base substitution G C synonymous_variant L463L 1389G>C BRCA-EU 1 161136317 161136317 single base substitution C T downstream_gene_variant BRCA-EU 1 161137471 161137471 single base substitution C T downstream_gene_variant BRCA-EU 1 161137580 161137580 single base substitution C G downstream_gene_variant BRCA-EU 1 161138194 161138194 single base substitution G A downstream_gene_variant BRCA-EU 1 161138560 161138560 single base substitution C G downstream_gene_variant BRCA-EU 1 161138861 161138861 single base substitution G T downstream_gene_variant BRCA-FR 1 161124454 161124454 single base substitution C T upstream_gene_variant BRCA-FR 1 161127392 161127392 single base substitution T G upstream_gene_variant BRCA-FR 1 161136317 161136317 single base substitution C T downstream_gene_variant BRCA-US 1 161127913 161127913 single base substitution G C upstream_gene_variant BRCA-US 1 161131732 161131732 single base substitution C T downstream_gene_variant BRCA-US 1 161131732 161131732 single base substitution C T exon_variant BRCA-US 1 161131732 161131732 single base substitution C T intron_variant BRCA-US 1 161131732 161131732 single base substitution C T upstream_gene_variant BRCA-US 1 161132413 161132413 single base substitution G C downstream_gene_variant BRCA-US 1 161132413 161132413 single base substitution G C exon_variant BRCA-US 1 161132413 161132413 single base substitution G C missense_variant D264H 790G>C BRCA-US 1 161132413 161132413 single base substitution G C upstream_gene_variant BRCA-US 1 161132851 161132851 single base substitution G T downstream_gene_variant BRCA-US 1 161132851 161132851 single base substitution G T exon_variant BRCA-US 1 161132851 161132851 single base substitution G T stop_gained E346* 1036G>T BRCA-US 1 161132851 161132851 single base substitution G T upstream_gene_variant BRCA-US 1 161133349 161133349 single base substitution G T downstream_gene_variant BRCA-US 1 161133349 161133349 single base substitution G T exon_variant BRCA-US 1 161133349 161133349 single base substitution G T missense_variant D352Y 1054G>T BRCA-US 1 161133349 161133349 single base substitution G T upstream_gene_variant BRCA-US 1 161133388 161133388 single base substitution C T downstream_gene_variant BRCA-US 1 161133388 161133388 single base substitution C T exon_variant BRCA-US 1 161133388 161133388 single base substitution C T stop_gained R365* 1093C>T BRCA-US 1 161133388 161133388 single base substitution C T upstream_gene_variant BRCA-US 1 161134356 161134356 deletion of <=200bp T - downstream_gene_variant BRCA-US 1 161134356 161134356 deletion of <=200bp T - exon_variant BRCA-US 1 161134356 161134356 deletion of <=200bp T - frameshift_variant S446 BRCA-US 1 161136696 161136696 single base substitution A C downstream_gene_variant BRCA-US 1 161137204 161137204 single base substitution G A downstream_gene_variant BRCA-US 1 161137815 161137815 single base substitution C A downstream_gene_variant BRCA-US 1 161137894 161137894 single base substitution G A downstream_gene_variant BRCA-US 1 161138049 161138049 single base substitution C T downstream_gene_variant BRCA-US 1 161139450 161139450 single base substitution G A downstream_gene_variant BRCA-US 1 161140119 161140119 insertion of <=200bp - C downstream_gene_variant BRCA-US 1 161140234 161140234 single base substitution A T downstream_gene_variant BRCA-US 1 161140244 161140244 single base substitution G C downstream_gene_variant BTCA-JP 1 161126918 161126918 single base substitution C T upstream_gene_variant BTCA-JP 1 161127320 161127320 single base substitution C T upstream_gene_variant BTCA-JP 1 161128022 161128022 single base substitution A C upstream_gene_variant BTCA-JP 1 161130639 161130639 single base substitution G A exon_variant BTCA-JP 1 161130639 161130639 single base substitution G A missense_variant R70Q 209G>A BTCA-JP 1 161130639 161130639 single base substitution G A upstream_gene_variant BTCA-JP 1 161130906 161130906 single base substitution G A downstream_gene_variant BTCA-JP 1 161130906 161130906 single base substitution G A missense_variant R159H 476G>A BTCA-JP 1 161130906 161130906 single base substitution G A splice_region_variant BTCA-JP 1 161130906 161130906 single base substitution G A upstream_gene_variant BTCA-JP 1 161131811 161131811 single base substitution G C downstream_gene_variant BTCA-JP 1 161131811 161131811 single base substitution G C exon_variant BTCA-JP 1 161131811 161131811 single base substitution G C intron_variant BTCA-JP 1 161131811 161131811 single base substitution G C upstream_gene_variant BTCA-JP 1 161132087 161132087 single base substitution C G downstream_gene_variant BTCA-JP 1 161132087 161132087 single base substitution C G exon_variant BTCA-JP 1 161132087 161132087 single base substitution C G missense_variant L230V 688C>G BTCA-JP 1 161132087 161132087 single base substitution C G upstream_gene_variant CESC-US 1 161128205 161128205 single base substitution G A upstream_gene_variant CESC-US 1 161131810 161131810 single base substitution T G downstream_gene_variant CESC-US 1 161131810 161131810 single base substitution T G exon_variant CESC-US 1 161131810 161131810 single base substitution T G intron_variant CESC-US 1 161131810 161131810 single base substitution T G upstream_gene_variant CESC-US 1 161133352 161133352 single base substitution G A downstream_gene_variant CESC-US 1 161133352 161133352 single base substitution G A exon_variant CESC-US 1 161133352 161133352 single base substitution G A missense_variant D353N 1057G>A CESC-US 1 161133352 161133352 single base substitution G A upstream_gene_variant CESC-US 1 161134399 161134399 single base substitution C T downstream_gene_variant CESC-US 1 161134399 161134399 single base substitution C T exon_variant CESC-US 1 161134399 161134399 single base substitution C T missense_variant L461F 1381C>T CESC-US 1 161139317 161139317 single base substitution C T downstream_gene_variant CESC-US 1 161139704 161139704 single base substitution G T downstream_gene_variant CESC-US 1 161140467 161140467 single base substitution C T downstream_gene_variant COAD-US 1 161127443 161127443 single base substitution G A upstream_gene_variant COAD-US 1 161130594 161130594 single base substitution G A exon_variant COAD-US 1 161130594 161130594 single base substitution G A missense_variant R55Q 164G>A COAD-US 1 161130594 161130594 single base substitution G A upstream_gene_variant COAD-US 1 161130716 161130716 single base substitution C A exon_variant COAD-US 1 161130716 161130716 single base substitution C A missense_variant P96T 286C>A COAD-US 1 161130716 161130716 single base substitution C A upstream_gene_variant COAD-US 1 161130857 161130857 single base substitution G A downstream_gene_variant COAD-US 1 161130857 161130857 single base substitution G A intron_variant COAD-US 1 161130857 161130857 single base substitution G A missense_variant A143T 427G>A COAD-US 1 161130857 161130857 single base substitution G A upstream_gene_variant COAD-US 1 161130861 161130861 single base substitution T A downstream_gene_variant COAD-US 1 161130861 161130861 single base substitution T A intron_variant COAD-US 1 161130861 161130861 single base substitution T A missense_variant L144H 431T>A COAD-US 1 161130861 161130861 single base substitution T A upstream_gene_variant COAD-US 1 161133353 161133353 single base substitution A G downstream_gene_variant COAD-US 1 161133353 161133353 single base substitution A G exon_variant COAD-US 1 161133353 161133353 single base substitution A G missense_variant D353G 1058A>G COAD-US 1 161133353 161133353 single base substitution A G upstream_gene_variant COAD-US 1 161137223 161137223 single base substitution G T downstream_gene_variant COAD-US 1 161138242 161138242 single base substitution C T downstream_gene_variant COCA-CN 1 161127538 161127538 single base substitution C T upstream_gene_variant COCA-CN 1 161130660 161130660 single base substitution G A exon_variant COCA-CN 1 161130660 161130660 single base substitution G A missense_variant R77H 230G>A COCA-CN 1 161130660 161130660 single base substitution G A upstream_gene_variant COCA-CN 1 161130681 161130681 single base substitution C T exon_variant COCA-CN 1 161130681 161130681 single base substitution C T missense_variant A84V 251C>T COCA-CN 1 161130681 161130681 single base substitution C T upstream_gene_variant COCA-CN 1 161130889 161130889 single base substitution T C downstream_gene_variant COCA-CN 1 161130889 161130889 single base substitution T C intron_variant COCA-CN 1 161130889 161130889 single base substitution T C synonymous_variant R153R 459T>C COCA-CN 1 161130889 161130889 single base substitution T C upstream_gene_variant COCA-CN 1 161132345 161132345 single base substitution T G downstream_gene_variant COCA-CN 1 161132345 161132345 single base substitution T G intron_variant COCA-CN 1 161132345 161132345 single base substitution T G upstream_gene_variant COCA-CN 1 161134911 161134911 single base substitution T A downstream_gene_variant COCA-CN 1 161134911 161134911 single base substitution T A exon_variant COCA-CN 1 161134911 161134911 single base substitution T A missense_variant W515R 1543T>A COCA-CN 1 161134911 161134911 single base substitution T A missense_variant W529R 1585T>A COCA-CN 1 161135320 161135320 single base substitution T G 3_prime_UTR_variant COCA-CN 1 161135320 161135320 single base substitution T G downstream_gene_variant COCA-CN 1 161135320 161135320 single base substitution T G exon_variant ESAD-UK 1 161124536 161124536 single base substitution C T upstream_gene_variant ESAD-UK 1 161124837 161124837 single base substitution G T upstream_gene_variant ESAD-UK 1 161126821 161126821 single base substitution C T upstream_gene_variant ESAD-UK 1 161126991 161126991 single base substitution T A upstream_gene_variant ESAD-UK 1 161127226 161127226 single base substitution C T upstream_gene_variant ESAD-UK 1 161128994 161128994 single base substitution T G upstream_gene_variant ESAD-UK 1 161129391 161129391 single base substitution G A 5_prime_UTR_variant ESAD-UK 1 161129391 161129391 single base substitution G A upstream_gene_variant ESAD-UK 1 161130967 161130967 single base substitution C T downstream_gene_variant ESAD-UK 1 161130967 161130967 single base substitution C T exon_variant ESAD-UK 1 161130967 161130967 single base substitution C T synonymous_variant S179S 537C>T ESAD-UK 1 161130967 161130967 single base substitution C T upstream_gene_variant ESAD-UK 1 161131037 161131037 single base substitution A G downstream_gene_variant ESAD-UK 1 161131037 161131037 single base substitution A G splice_region_variant ESAD-UK 1 161131037 161131037 single base substitution A G upstream_gene_variant ESAD-UK 1 161131214 161131214 single base substitution G T downstream_gene_variant ESAD-UK 1 161131214 161131214 single base substitution G T exon_variant ESAD-UK 1 161131214 161131214 single base substitution G T intron_variant ESAD-UK 1 161131214 161131214 single base substitution G T upstream_gene_variant ESAD-UK 1 161131976 161131976 single base substitution G A downstream_gene_variant ESAD-UK 1 161131976 161131976 single base substitution G A intron_variant ESAD-UK 1 161131976 161131976 single base substitution G A upstream_gene_variant ESAD-UK 1 161132449 161132449 single base substitution G A downstream_gene_variant ESAD-UK 1 161132449 161132449 single base substitution G A exon_variant ESAD-UK 1 161132449 161132449 single base substitution G A missense_variant E276K 826G>A ESAD-UK 1 161132449 161132449 single base substitution G A upstream_gene_variant ESAD-UK 1 161133376 161133376 single base substitution C T downstream_gene_variant ESAD-UK 1 161133376 161133376 single base substitution C T exon_variant ESAD-UK 1 161133376 161133376 single base substitution C T missense_variant R361C 1081C>T ESAD-UK 1 161133376 161133376 single base substitution C T upstream_gene_variant ESAD-UK 1 161135806 161135806 single base substitution G C downstream_gene_variant ESAD-UK 1 161139050 161139050 single base substitution G A downstream_gene_variant ESAD-UK 1 161140030 161140030 single base substitution G A downstream_gene_variant ESCA-CN 1 161137347 161137347 single base substitution C T downstream_gene_variant GBM-US 1 161138221 161138221 single base substitution G T downstream_gene_variant KIRC-US 1 161134659 161134659 insertion of <=200bp - A downstream_gene_variant KIRC-US 1 161134659 161134659 insertion of <=200bp - A exon_variant KIRC-US 1 161134659 161134659 insertion of <=200bp - A frameshift_variant I473I? KIRC-US 1 161134913 161134913 single base substitution G T downstream_gene_variant KIRC-US 1 161134913 161134913 single base substitution G T exon_variant KIRC-US 1 161134913 161134913 single base substitution G T missense_variant W515C 1545G>T KIRC-US 1 161134913 161134913 single base substitution G T missense_variant W529C 1587G>T KIRP-US 1 161134645 161134645 single base substitution T A downstream_gene_variant KIRP-US 1 161134645 161134645 single base substitution T A exon_variant KIRP-US 1 161134645 161134645 single base substitution T A missense_variant S469T 1405T>A LAML-KR 1 161129500 161129500 single base substitution T G intron_variant LAML-KR 1 161129500 161129500 single base substitution T G upstream_gene_variant LGG-US 1 161132502 161132504 deletion of <=200bp CTT - downstream_gene_variant LGG-US 1 161132502 161132504 deletion of <=200bp CTT - exon_variant LGG-US 1 161132502 161132504 deletion of <=200bp CTT - inframe_deletion SF293S LGG-US 1 161132502 161132504 deletion of <=200bp CTT - upstream_gene_variant LGG-US 1 161139471 161139471 single base substitution C G downstream_gene_variant LIAD-FR 1 161136956 161136956 single base substitution G T downstream_gene_variant LICA-CN 1 161130952 161130952 single base substitution A T downstream_gene_variant LICA-CN 1 161130952 161130952 single base substitution A T exon_variant LICA-CN 1 161130952 161130952 single base substitution A T synonymous_variant T174T 522A>T LICA-CN 1 161130952 161130952 single base substitution A T upstream_gene_variant LICA-FR 1 161128229 161128229 single base substitution C T upstream_gene_variant LICA-FR 1 161130992 161130992 single base substitution G A downstream_gene_variant LICA-FR 1 161130992 161130992 single base substitution G A exon_variant LICA-FR 1 161130992 161130992 single base substitution G A missense_variant A188T 562G>A LICA-FR 1 161130992 161130992 single base substitution G A upstream_gene_variant LICA-FR 1 161137239 161137239 single base substitution G A downstream_gene_variant LIHC-US 1 161132173 161132173 single base substitution C T downstream_gene_variant LIHC-US 1 161132173 161132173 single base substitution C T exon_variant LIHC-US 1 161132173 161132173 single base substitution C T synonymous_variant L258L 774C>T LIHC-US 1 161132173 161132173 single base substitution C T upstream_gene_variant LINC-JP 1 161133792 161133792 single base substitution G A downstream_gene_variant LINC-JP 1 161133792 161133792 single base substitution G A exon_variant LINC-JP 1 161133792 161133792 single base substitution G A intron_variant LINC-JP 1 161136677 161136677 single base substitution G A downstream_gene_variant LINC-JP 1 161137347 161137347 single base substitution C T downstream_gene_variant LINC-JP 1 161137676 161137676 deletion of <=200bp T - downstream_gene_variant LINC-JP 1 161137953 161137953 single base substitution C A downstream_gene_variant LINC-JP 1 161140333 161140346 deletion of <=200bp AGTGGCATTTCCAG - downstream_gene_variant LINC-JP 1 161140428 161140428 single base substitution T C downstream_gene_variant LIRI-JP 1 161128210 161128210 single base substitution A G upstream_gene_variant LIRI-JP 1 161128513 161128513 single base substitution C G upstream_gene_variant LIRI-JP 1 161128802 161128802 single base substitution T C upstream_gene_variant LIRI-JP 1 161128935 161128935 single base substitution T A upstream_gene_variant LIRI-JP 1 161129280 161129280 insertion of <=200bp - GCCGGTG 5_prime_UTR_variant LIRI-JP 1 161129280 161129280 insertion of <=200bp - GCCGGTG upstream_gene_variant LIRI-JP 1 161131916 161131916 single base substitution C A downstream_gene_variant LIRI-JP 1 161131916 161131916 single base substitution C A intron_variant LIRI-JP 1 161131916 161131916 single base substitution C A upstream_gene_variant LIRI-JP 1 161139267 161139267 single base substitution G A downstream_gene_variant LIRI-JP 1 161140356 161140356 single base substitution C T downstream_gene_variant LUSC-KR 1 161126975 161126975 single base substitution C G upstream_gene_variant LUSC-KR 1 161128659 161128659 single base substitution C G upstream_gene_variant LUSC-KR 1 161128808 161128808 single base substitution C A upstream_gene_variant LUSC-KR 1 161130862 161130862 single base substitution C T downstream_gene_variant LUSC-KR 1 161130862 161130862 single base substitution C T intron_variant LUSC-KR 1 161130862 161130862 single base substitution C T synonymous_variant L144L 432C>T LUSC-KR 1 161130862 161130862 single base substitution C T upstream_gene_variant LUSC-KR 1 161130863 161130863 single base substitution C T downstream_gene_variant LUSC-KR 1 161130863 161130863 single base substitution C T intron_variant LUSC-KR 1 161130863 161130863 single base substitution C T missense_variant R145W 433C>T LUSC-KR 1 161130863 161130863 single base substitution C T upstream_gene_variant LUSC-KR 1 161136843 161136843 single base substitution C G downstream_gene_variant LUSC-KR 1 161137347 161137347 single base substitution C T downstream_gene_variant LUSC-KR 1 161139951 161139951 single base substitution C T downstream_gene_variant LUSC-US 1 161127061 161127061 single base substitution G T upstream_gene_variant LUSC-US 1 161130856 161130856 single base substitution G T downstream_gene_variant LUSC-US 1 161130856 161130856 single base substitution G T intron_variant LUSC-US 1 161130856 161130856 single base substitution G T missense_variant L142F 426G>T LUSC-US 1 161130856 161130856 single base substitution G T upstream_gene_variant LUSC-US 1 161130911 161130911 single base substitution G T downstream_gene_variant LUSC-US 1 161130911 161130911 single base substitution G T missense_variant G161W 481G>T LUSC-US 1 161130911 161130911 single base substitution G T splice_acceptor_variant LUSC-US 1 161130911 161130911 single base substitution G T upstream_gene_variant LUSC-US 1 161132464 161132464 single base substitution A T downstream_gene_variant LUSC-US 1 161132464 161132464 single base substitution A T exon_variant LUSC-US 1 161132464 161132464 single base substitution A T missense_variant T281S 841A>T LUSC-US 1 161132464 161132464 single base substitution A T upstream_gene_variant LUSC-US 1 161133756 161133756 single base substitution C T downstream_gene_variant LUSC-US 1 161133756 161133756 single base substitution C T exon_variant LUSC-US 1 161133756 161133756 single base substitution C T intron_variant LUSC-US 1 161133756 161133756 single base substitution C T synonymous_variant S401S 1203C>T LUSC-US 1 161134932 161134932 single base substitution C T downstream_gene_variant LUSC-US 1 161134932 161134932 single base substitution C T missense_variant R522C 1564C>T LUSC-US 1 161134932 161134932 single base substitution C T missense_variant R536C 1606C>T LUSC-US 1 161134932 161134932 single base substitution C T splice_region_variant MALY-DE 1 161128856 161128856 single base substitution C T upstream_gene_variant MALY-DE 1 161131355 161131355 single base substitution C A downstream_gene_variant MALY-DE 1 161131355 161131355 single base substitution C A exon_variant MALY-DE 1 161131355 161131355 single base substitution C A intron_variant MALY-DE 1 161131355 161131355 single base substitution C A upstream_gene_variant MELA-AU 1 161124402 161124402 single base substitution G T upstream_gene_variant MELA-AU 1 161124672 161124672 single base substitution G A upstream_gene_variant MELA-AU 1 161125006 161125006 single base substitution C T upstream_gene_variant MELA-AU 1 161126429 161126429 single base substitution C T upstream_gene_variant MELA-AU 1 161126485 161126485 single base substitution A C upstream_gene_variant MELA-AU 1 161126693 161126694 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 161126748 161126748 single base substitution G A upstream_gene_variant MELA-AU 1 161126770 161126770 single base substitution G A upstream_gene_variant MELA-AU 1 161126870 161126870 single base substitution C T upstream_gene_variant MELA-AU 1 161127526 161127526 single base substitution A G upstream_gene_variant MELA-AU 1 161128133 161128133 single base substitution G A upstream_gene_variant MELA-AU 1 161128900 161128900 single base substitution G A upstream_gene_variant MELA-AU 1 161129226 161129226 single base substitution G A upstream_gene_variant MELA-AU 1 161129243 161129243 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 1 161129243 161129243 single base substitution C T upstream_gene_variant MELA-AU 1 161129252 161129252 single base substitution A G 5_prime_UTR_variant MELA-AU 1 161129252 161129252 single base substitution A G upstream_gene_variant MELA-AU 1 161129352 161129352 single base substitution G A 5_prime_UTR_variant MELA-AU 1 161129352 161129352 single base substitution G A upstream_gene_variant MELA-AU 1 161129639 161129639 single base substitution C T intron_variant MELA-AU 1 161129639 161129639 single base substitution C T upstream_gene_variant MELA-AU 1 161129756 161129756 single base substitution C T intron_variant MELA-AU 1 161129756 161129756 single base substitution C T upstream_gene_variant MELA-AU 1 161130441 161130441 single base substitution C T missense_variant A4V 11C>T MELA-AU 1 161130441 161130441 single base substitution C T upstream_gene_variant MELA-AU 1 161130697 161130697 single base substitution C T exon_variant MELA-AU 1 161130697 161130697 single base substitution C T synonymous_variant P89P 267C>T MELA-AU 1 161130697 161130697 single base substitution C T upstream_gene_variant MELA-AU 1 161130757 161130757 single base substitution C T exon_variant MELA-AU 1 161130757 161130757 single base substitution C T synonymous_variant A109A 327C>T MELA-AU 1 161130757 161130757 single base substitution C T upstream_gene_variant MELA-AU 1 161131627 161131627 single base substitution C T downstream_gene_variant MELA-AU 1 161131627 161131627 single base substitution C T exon_variant MELA-AU 1 161131627 161131627 single base substitution C T intron_variant MELA-AU 1 161131627 161131627 single base substitution C T upstream_gene_variant MELA-AU 1 161131824 161131824 single base substitution C T downstream_gene_variant MELA-AU 1 161131824 161131824 single base substitution C T exon_variant MELA-AU 1 161131824 161131824 single base substitution C T splice_region_variant MELA-AU 1 161131824 161131824 single base substitution C T upstream_gene_variant MELA-AU 1 161132484 161132484 single base substitution C T downstream_gene_variant MELA-AU 1 161132484 161132484 single base substitution C T exon_variant MELA-AU 1 161132484 161132484 single base substitution C T synonymous_variant F287F 861C>T MELA-AU 1 161132484 161132484 single base substitution C T upstream_gene_variant MELA-AU 1 161133088 161133088 single base substitution G A downstream_gene_variant MELA-AU 1 161133088 161133088 single base substitution G A intron_variant MELA-AU 1 161133088 161133088 single base substitution G A upstream_gene_variant MELA-AU 1 161133147 161133147 single base substitution C T downstream_gene_variant MELA-AU 1 161133147 161133147 single base substitution C T intron_variant MELA-AU 1 161133147 161133147 single base substitution C T upstream_gene_variant MELA-AU 1 161133670 161133670 single base substitution C T downstream_gene_variant MELA-AU 1 161133670 161133670 single base substitution C T exon_variant MELA-AU 1 161133670 161133670 single base substitution C T splice_region_variant MELA-AU 1 161134445 161134445 single base substitution C T downstream_gene_variant MELA-AU 1 161134445 161134445 single base substitution C T exon_variant MELA-AU 1 161134445 161134445 single base substitution C T intron_variant MELA-AU 1 161134739 161134739 single base substitution C T downstream_gene_variant MELA-AU 1 161134739 161134739 single base substitution C T splice_region_variant MELA-AU 1 161134947 161134947 single base substitution C T downstream_gene_variant MELA-AU 1 161134947 161134947 single base substitution C T intron_variant MELA-AU 1 161134971 161134971 single base substitution C T downstream_gene_variant MELA-AU 1 161134971 161134971 single base substitution C T intron_variant MELA-AU 1 161135142 161135142 single base substitution C T downstream_gene_variant MELA-AU 1 161135142 161135142 single base substitution C T intron_variant MELA-AU 1 161135293 161135293 single base substitution C T 3_prime_UTR_variant MELA-AU 1 161135293 161135293 single base substitution C T downstream_gene_variant MELA-AU 1 161135293 161135293 single base substitution C T exon_variant MELA-AU 1 161135350 161135350 single base substitution G A 3_prime_UTR_variant MELA-AU 1 161135350 161135350 single base substitution G A downstream_gene_variant MELA-AU 1 161135350 161135350 single base substitution G A exon_variant MELA-AU 1 161135854 161135854 single base substitution G A downstream_gene_variant MELA-AU 1 161135957 161135957 single base substitution G A downstream_gene_variant MELA-AU 1 161136067 161136067 single base substitution A G downstream_gene_variant MELA-AU 1 161136151 161136151 single base substitution C T downstream_gene_variant MELA-AU 1 161136977 161136977 single base substitution C T downstream_gene_variant MELA-AU 1 161137580 161137580 single base substitution C T downstream_gene_variant MELA-AU 1 161137659 161137659 single base substitution C T downstream_gene_variant MELA-AU 1 161138193 161138193 single base substitution C T downstream_gene_variant MELA-AU 1 161138563 161138563 single base substitution C T downstream_gene_variant MELA-AU 1 161139875 161139875 single base substitution G T downstream_gene_variant MELA-AU 1 161140112 161140112 single base substitution C T downstream_gene_variant MELA-AU 1 161140287 161140287 single base substitution G A downstream_gene_variant ORCA-IN 1 161130001 161130001 single base substitution G A intron_variant ORCA-IN 1 161130001 161130001 single base substitution G A upstream_gene_variant ORCA-IN 1 161133381 161133381 single base substitution C A downstream_gene_variant ORCA-IN 1 161133381 161133381 single base substitution C A exon_variant ORCA-IN 1 161133381 161133381 single base substitution C A stop_gained Y362* 1086C>A ORCA-IN 1 161133381 161133381 single base substitution C A upstream_gene_variant OV-AU 1 161130628 161130628 single base substitution G A exon_variant OV-AU 1 161130628 161130628 single base substitution G A synonymous_variant L66L 198G>A OV-AU 1 161130628 161130628 single base substitution G A upstream_gene_variant OV-AU 1 161139125 161139125 single base substitution C T downstream_gene_variant OV-US 1 161130804 161130804 single base substitution C T downstream_gene_variant OV-US 1 161130804 161130804 single base substitution C T intron_variant OV-US 1 161130804 161130804 single base substitution C T missense_variant A125V 374C>T OV-US 1 161130804 161130804 single base substitution C T upstream_gene_variant OV-US 1 161132065 161132065 single base substitution C T downstream_gene_variant OV-US 1 161132065 161132065 single base substitution C T exon_variant OV-US 1 161132065 161132065 single base substitution C T synonymous_variant F222F 666C>T OV-US 1 161132065 161132065 single base substitution C T upstream_gene_variant PACA-AU 1 161126524 161126524 single base substitution C A upstream_gene_variant PACA-AU 1 161127126 161127143 deletion of <=200bp GAAATATGAAGGTTAGTA - upstream_gene_variant PACA-CA 1 161129565 161129565 single base substitution G C intron_variant PACA-CA 1 161129565 161129565 single base substitution G C upstream_gene_variant PACA-CA 1 161131441 161131441 single base substitution T C downstream_gene_variant PACA-CA 1 161131441 161131441 single base substitution T C exon_variant PACA-CA 1 161131441 161131441 single base substitution T C intron_variant PACA-CA 1 161131441 161131441 single base substitution T C upstream_gene_variant PACA-CA 1 161134368 161134368 single base substitution G A downstream_gene_variant PACA-CA 1 161134368 161134368 single base substitution G A exon_variant PACA-CA 1 161134368 161134368 single base substitution G A synonymous_variant L450L 1350G>A PACA-CA 1 161135006 161135006 single base substitution C A downstream_gene_variant PACA-CA 1 161135006 161135006 single base substitution C A intron_variant PACA-CA 1 161136026 161136026 single base substitution G T downstream_gene_variant PAEN-IT 1 161125913 161125913 single base substitution G T upstream_gene_variant PBCA-DE 1 161127403 161127403 single base substitution C A upstream_gene_variant PBCA-DE 1 161140119 161140119 single base substitution A C downstream_gene_variant PRAD-CA 1 161132847 161132847 single base substitution A G downstream_gene_variant PRAD-CA 1 161132847 161132847 single base substitution A G exon_variant PRAD-CA 1 161132847 161132847 single base substitution A G synonymous_variant L344L 1032A>G PRAD-CA 1 161132847 161132847 single base substitution A G upstream_gene_variant PRAD-CA 1 161137895 161137895 single base substitution C T downstream_gene_variant READ-US 1 161130911 161130911 single base substitution G A downstream_gene_variant READ-US 1 161130911 161130911 single base substitution G A missense_variant G161R 481G>A READ-US 1 161130911 161130911 single base substitution G A splice_acceptor_variant READ-US 1 161130911 161130911 single base substitution G A upstream_gene_variant RECA-CN 1 161130795 161130795 single base substitution T C downstream_gene_variant RECA-CN 1 161130795 161130795 single base substitution T C intron_variant RECA-CN 1 161130795 161130795 single base substitution T C missense_variant M122T 365T>C RECA-CN 1 161130795 161130795 single base substitution T C upstream_gene_variant RECA-EU 1 161137354 161137354 single base substitution T C downstream_gene_variant RECA-EU 1 161138919 161138919 single base substitution T A downstream_gene_variant SKCA-BR 1 161126433 161126433 single base substitution A T upstream_gene_variant SKCA-BR 1 161127077 161127077 single base substitution C T upstream_gene_variant SKCA-BR 1 161127598 161127598 single base substitution T G upstream_gene_variant SKCA-BR 1 161128373 161128373 single base substitution C T upstream_gene_variant SKCA-BR 1 161136719 161136719 single base substitution C T downstream_gene_variant SKCA-BR 1 161140111 161140111 insertion of <=200bp - TC downstream_gene_variant SKCM-US 1 161127057 161127057 single base substitution T A upstream_gene_variant SKCM-US 1 161127075 161127075 single base substitution C T upstream_gene_variant SKCM-US 1 161128000 161128000 single base substitution G T upstream_gene_variant SKCM-US 1 161130441 161130441 single base substitution C T missense_variant A4V 11C>T SKCM-US 1 161130441 161130441 single base substitution C T upstream_gene_variant SKCM-US 1 161130677 161130677 single base substitution C T exon_variant SKCM-US 1 161130677 161130677 single base substitution C T stop_gained R83* 247C>T SKCM-US 1 161130677 161130677 single base substitution C T upstream_gene_variant SKCM-US 1 161130686 161130686 single base substitution C T exon_variant SKCM-US 1 161130686 161130686 single base substitution C T missense_variant H86Y 256C>T SKCM-US 1 161130686 161130686 single base substitution C T upstream_gene_variant SKCM-US 1 161130921 161130921 single base substitution C T downstream_gene_variant SKCM-US 1 161130921 161130921 single base substitution C T exon_variant SKCM-US 1 161130921 161130921 single base substitution C T missense_variant P164L 491C>T SKCM-US 1 161130921 161130921 single base substitution C T upstream_gene_variant SKCM-US 1 161130934 161130934 single base substitution C T downstream_gene_variant SKCM-US 1 161130934 161130934 single base substitution C T exon_variant SKCM-US 1 161130934 161130934 single base substitution C T synonymous_variant T168T 504C>T SKCM-US 1 161130934 161130934 single base substitution C T upstream_gene_variant SKCM-US 1 161130935 161130935 single base substitution C T downstream_gene_variant SKCM-US 1 161130935 161130935 single base substitution C T exon_variant SKCM-US 1 161130935 161130935 single base substitution C T synonymous_variant L169L 505C>T SKCM-US 1 161130935 161130935 single base substitution C T upstream_gene_variant SKCM-US 1 161132472 161132472 single base substitution C T downstream_gene_variant SKCM-US 1 161132472 161132472 single base substitution C T exon_variant SKCM-US 1 161132472 161132472 single base substitution C T synonymous_variant F283F 849C>T SKCM-US 1 161132472 161132472 single base substitution C T upstream_gene_variant SKCM-US 1 161132788 161132788 single base substitution C T downstream_gene_variant SKCM-US 1 161132788 161132788 single base substitution C T exon_variant SKCM-US 1 161132788 161132788 single base substitution C T missense_variant P325S 973C>T SKCM-US 1 161132788 161132788 single base substitution C T upstream_gene_variant SKCM-US 1 161133674 161133674 single base substitution T G downstream_gene_variant SKCM-US 1 161133674 161133674 single base substitution T G exon_variant SKCM-US 1 161133674 161133674 single base substitution T G missense_variant F374C 1121T>G SKCM-US 1 161133736 161133736 single base substitution G A downstream_gene_variant SKCM-US 1 161133736 161133736 single base substitution G A exon_variant SKCM-US 1 161133736 161133736 single base substitution G A intron_variant SKCM-US 1 161133736 161133736 single base substitution G A missense_variant E395K 1183G>A SKCM-US 1 161133953 161133953 single base substitution G A downstream_gene_variant SKCM-US 1 161133953 161133953 single base substitution G A exon_variant SKCM-US 1 161133953 161133953 single base substitution G A splice_acceptor_variant SKCM-US 1 161133981 161133981 single base substitution C T downstream_gene_variant SKCM-US 1 161133981 161133981 single base substitution C T exon_variant SKCM-US 1 161133981 161133981 single base substitution C T synonymous_variant L416L 1246C>T SKCM-US 1 161134339 161134339 single base substitution C T downstream_gene_variant SKCM-US 1 161134339 161134339 single base substitution C T exon_variant SKCM-US 1 161134339 161134339 single base substitution C T missense_variant R441W 1321C>T SKCM-US 1 161135152 161135152 single base substitution C T downstream_gene_variant SKCM-US 1 161135152 161135152 single base substitution C T exon_variant SKCM-US 1 161135152 161135152 single base substitution C T missense_variant S524F 1571C>T SKCM-US 1 161135152 161135152 single base substitution C T missense_variant S538F 1613C>T SKCM-US 1 161137200 161137200 single base substitution C A downstream_gene_variant SKCM-US 1 161138347 161138347 single base substitution G A downstream_gene_variant SKCM-US 1 161138933 161138933 single base substitution C G downstream_gene_variant SKCM-US 1 161140245 161140245 single base substitution G A downstream_gene_variant STAD-US 1 161130563 161130563 single base substitution C T exon_variant STAD-US 1 161130563 161130563 single base substitution C T missense_variant P45S 133C>T STAD-US 1 161130563 161130563 single base substitution C T upstream_gene_variant STAD-US 1 161130687 161130687 single base substitution A G exon_variant STAD-US 1 161130687 161130687 single base substitution A G missense_variant H86R 257A>G STAD-US 1 161130687 161130687 single base substitution A G upstream_gene_variant STAD-US 1 161130992 161130992 single base substitution G A downstream_gene_variant STAD-US 1 161130992 161130992 single base substitution G A exon_variant STAD-US 1 161130992 161130992 single base substitution G A missense_variant A188T 562G>A STAD-US 1 161130992 161130992 single base substitution G A upstream_gene_variant STAD-US 1 161133376 161133376 single base substitution C T downstream_gene_variant STAD-US 1 161133376 161133376 single base substitution C T exon_variant STAD-US 1 161133376 161133376 single base substitution C T missense_variant R361C 1081C>T STAD-US 1 161133376 161133376 single base substitution C T upstream_gene_variant STAD-US 1 161133410 161133410 single base substitution G C downstream_gene_variant STAD-US 1 161133410 161133410 single base substitution G C splice_donor_variant STAD-US 1 161133410 161133410 single base substitution G C upstream_gene_variant STAD-US 1 161133984 161133984 single base substitution C T downstream_gene_variant STAD-US 1 161133984 161133984 single base substitution C T exon_variant STAD-US 1 161133984 161133984 single base substitution C T missense_variant R417W 1249C>T STAD-US 1 161134660 161134660 deletion of <=200bp A - downstream_gene_variant STAD-US 1 161134660 161134660 deletion of <=200bp A - exon_variant STAD-US 1 161134660 161134660 deletion of <=200bp A - frameshift_variant K474 STAD-US 1 161134660 161134660 insertion of <=200bp - A downstream_gene_variant STAD-US 1 161134660 161134660 insertion of <=200bp - A exon_variant STAD-US 1 161134660 161134660 insertion of <=200bp - A frameshift_variant K474K? STAD-US 1 161134845 161134845 single base substitution C T downstream_gene_variant STAD-US 1 161134845 161134845 single base substitution C T exon_variant STAD-US 1 161134845 161134845 single base substitution C T intron_variant STAD-US 1 161134845 161134845 single base substitution C T missense_variant L507F 1519C>T STAD-US 1 161136683 161136683 single base substitution G A downstream_gene_variant STAD-US 1 161136994 161136994 single base substitution G A downstream_gene_variant STAD-US 1 161137170 161137170 single base substitution C T downstream_gene_variant STAD-US 1 161137804 161137804 deletion of <=200bp C - downstream_gene_variant STAD-US 1 161140288 161140288 deletion of <=200bp C - downstream_gene_variant THCA-SA 1 161132827 161132827 single base substitution C T downstream_gene_variant THCA-SA 1 161132827 161132827 single base substitution C T exon_variant THCA-SA 1 161132827 161132827 single base substitution C T missense_variant R338C 1012C>T THCA-SA 1 161132827 161132827 single base substitution C T upstream_gene_variant THCA-SA 1 161136224 161136224 single base substitution C A downstream_gene_variant THCA-SA 1 161136647 161136647 deletion of <=200bp A - downstream_gene_variant THCA-US 1 161140206 161140206 single base substitution G C downstream_gene_variant UCEC-US 1 161126806 161126806 single base substitution C T upstream_gene_variant UCEC-US 1 161128232 161128232 single base substitution G C upstream_gene_variant UCEC-US 1 161130461 161130461 single base substitution C T missense_variant R11C 31C>T UCEC-US 1 161130461 161130461 single base substitution C T upstream_gene_variant UCEC-US 1 161130578 161130578 single base substitution C T exon_variant UCEC-US 1 161130578 161130578 single base substitution C T stop_gained R50* 148C>T UCEC-US 1 161130578 161130578 single base substitution C T upstream_gene_variant UCEC-US 1 161130638 161130638 single base substitution C T exon_variant UCEC-US 1 161130638 161130638 single base substitution C T missense_variant R70W 208C>T UCEC-US 1 161130638 161130638 single base substitution C T upstream_gene_variant UCEC-US 1 161130674 161130674 single base substitution C A exon_variant UCEC-US 1 161130674 161130674 single base substitution C A missense_variant L82I 244C>A UCEC-US 1 161130674 161130674 single base substitution C A upstream_gene_variant UCEC-US 1 161130777 161130777 single base substitution G A intron_variant UCEC-US 1 161130777 161130777 single base substitution G A missense_variant S116N 347G>A UCEC-US 1 161130777 161130777 single base substitution G A upstream_gene_variant UCEC-US 1 161130906 161130906 single base substitution G A downstream_gene_variant UCEC-US 1 161130906 161130906 single base substitution G A missense_variant R159H 476G>A UCEC-US 1 161130906 161130906 single base substitution G A splice_region_variant UCEC-US 1 161130906 161130906 single base substitution G A upstream_gene_variant UCEC-US 1 161131871 161131871 single base substitution G A downstream_gene_variant UCEC-US 1 161131871 161131871 single base substitution G A exon_variant UCEC-US 1 161131871 161131871 single base substitution G A missense_variant R215Q 644G>A UCEC-US 1 161131871 161131871 single base substitution G A upstream_gene_variant UCEC-US 1 161132833 161132833 single base substitution G T downstream_gene_variant UCEC-US 1 161132833 161132833 single base substitution G T exon_variant UCEC-US 1 161132833 161132833 single base substitution G T stop_gained G340* 1018G>T UCEC-US 1 161132833 161132833 single base substitution G T upstream_gene_variant UCEC-US 1 161133736 161133736 single base substitution G A downstream_gene_variant UCEC-US 1 161133736 161133736 single base substitution G A exon_variant UCEC-US 1 161133736 161133736 single base substitution G A intron_variant UCEC-US 1 161133736 161133736 single base substitution G A missense_variant E395K 1183G>A UCEC-US 1 161133751 161133751 single base substitution C A downstream_gene_variant UCEC-US 1 161133751 161133751 single base substitution C A exon_variant UCEC-US 1 161133751 161133751 single base substitution C A intron_variant UCEC-US 1 161133751 161133751 single base substitution C A missense_variant L400M 1198C>A UCEC-US 1 161134637 161134637 single base substitution T G downstream_gene_variant UCEC-US 1 161134637 161134637 single base substitution T G exon_variant UCEC-US 1 161134637 161134637 single base substitution T G missense_variant F466C 1397T>G UCEC-US 1 161136961 161136961 single base substitution C A downstream_gene_variant UCEC-US 1 161137244 161137244 single base substitution C T downstream_gene_variant UCEC-US 1 161138868 161138868 single base substitution G A downstream_gene_variant UCEC-US 1 161140454 161140454 single base substitution C A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A059-01 COSM898480 c.208C>T p.R70W Substitution - Missense 1:161160848-161160848 + ESCC_146 COSM5644604 c.400G>T p.E134* Substitution - Nonsense 1:161161040-161161040 + TCGA-BR-6852-01 COSM4024324 c.1081C>T p.R361C Substitution - Missense 1:161163586-161163586 + TCGA-D1-A17H-01 COSM898489 c.1409G>A p.R470Q Substitution - Missense 1:161164859-161164859 + TCGA-D1-A176-01 COSM898482 c.347G>A p.S116N Substitution - Missense 1:161160987-161160987 + TCGA-GV-A3JZ-01 COSM1295354 c.366G>A p.M122I Substitution - Missense 1:161161006-161161006 + PT36 COSM5914827 c.1493-6C>T p.? Unknown 1:161165023-161165023 + B89-10 COSM1747882 c.727A>T p.R243W Substitution - Missense 1:161162336-161162336 + B52-Tumor COSM1747880 c.178G>A p.D60N Substitution - Missense 1:161160818-161160818 + TCGA-FS-A1Z3-06 COSM3477181 c.247C>T p.R83* Substitution - Nonsense 1:161160887-161160887 + PCSI_0109_Pa_P_526 COSM4807323 c.1350G>A p.L450L Substitution - coding silent 1:161164578-161164578 + TCGA-34-5231-01 COSM676670 c.481G>T p.G161W Substitution - Missense 1:161161121-161161121 + TCGA-DR-A0ZM-01 COSM458489 c.1057G>A p.D353N Substitution - Missense 1:161163562-161163562 + TCGA-29-1703-01 COSM1319818 c.1384+5C>G p.? Unknown 1:161164617-161164617 + CSCC-54-T COSM676668 c.1203C>T p.S401S Substitution - coding silent 1:161163966-161163966 + BCM723T COSM4024323 c.562G>A p.A188T Substitution - Missense 1:161161202-161161202 + I2L-P19Ta-Tumor-Organoid COSM5352928 c.458G>A p.R153H Substitution - Missense 1:161161098-161161098 + K48-Tumor COSM249153 c.365T>C p.M122T Substitution - Missense 1:161161005-161161005 + 587338 COSM1232001 c.1060C>T p.R354* Substitution - Nonsense 1:161163565-161163565 + TCGA-AN-A046-01 COSM3802557 c.1036G>T p.E346* Substitution - Nonsense 1:161163061-161163061 + LUAD-F00057 COSM339381 c.378G>A p.L126L Substitution - coding silent 1:161161018-161161018 + B104-0 COSM1747881 c.589G>C p.D197H Substitution - Missense 1:161161229-161161229 + TCGA-D8-A27G-01 COSM3802556 c.790G>C p.D264H Substitution - Missense 1:161162623-161162623 + B89-10-Tumor COSM1747882 c.727A>T p.R243W Substitution - Missense 1:161162336-161162336 + 2171754 COSM4169681 c.659C>T p.T220M Substitution - Missense 1:161162096-161162096 + COLO201 COSM4621272 c.704C>T p.P235L Substitution - Missense 1:161162313-161162313 + TCGA-GC-A3OO-01 COSM3788965 c.900G>A p.Q300Q Substitution - coding silent 1:161162925-161162925 + PTC_448 COSM5959279 c.1012C>T p.R338C Substitution - Missense 1:161163037-161163037 + B104-0-Tumor COSM1747881 c.589G>C p.D197H Substitution - Missense 1:161161229-161161229 + S02290 COSM5686331 c.7C>G p.Q3E Substitution - Missense 1:161160647-161160647 + PT36 COSM5914828 c.1493-5C>T p.? Unknown 1:161165024-161165024 + TCGA-CG-4466-01 COSM4024325 c.1114+1G>C p.? Unknown 1:161163620-161163620 + TCGA-D1-A103-01 COSM898479 c.148C>T p.R50* Substitution - Nonsense 1:161160788-161160788 + 436 COSM4433978 c.1385-1G>T p.? Unknown 1:161164834-161164834 + 2171665 COSM4423128 c.1121T>C p.F374S Substitution - Missense 1:161163884-161163884 + TCGA-DZ-6132-01 COSM3984411 c.1405T>A p.S469T Substitution - Missense 1:161164855-161164855 + TCGA-FS-A1ZS-06 COSM2086794 c.1321C>T p.R441W Substitution - Missense 1:161164549-161164549 + C058 COSM5525796 c.1173C>T p.S391S Substitution - coding silent 1:161163936-161163936 + TCGA-AX-A063-01 COSM898487 c.1198C>A p.L400M Substitution - Missense 1:161163961-161163961 + TCGA-AN-A0FV-01 COSM424367 c.1054G>T p.D352Y Substitution - Missense 1:161163559-161163559 + TCGA-BR-8372-01 COSM4024326 c.1249C>T p.R417W Substitution - Missense 1:161164194-161164194 + 113720 COSM95441 c.1687C>T p.R563W Substitution - Missense 1:161165436-161165436 + S02246 COSM5678705 c.574G>T p.E192* Substitution - Nonsense 1:161161214-161161214 + 3844_T COSM3976409 c.1230T>G p.A410A Substitution - coding silent 1:161164175-161164175 + TCGA-60-2713-01 COSM676668 c.1203C>T p.S401S Substitution - coding silent 1:161163966-161163966 + T464 COSM4739713 c.475C>T p.R159C Substitution - Missense 1:161161115-161161115 + ESCC_10 COSM5623738 c.1407C>A p.S469S Substitution - coding silent 1:161164857-161164857 + TCGA-B5-A11E-01 COSM898483 c.476G>A p.R159H Substitution - Missense 1:161161116-161161116 + TCGA-FR-A3YO-06 COSM3477185 c.973C>T p.P325S Substitution - Missense 1:161162998-161162998 + HCT-116 COSM1683805 c.1235delG p.G412fs*18 Deletion - Frameshift 1:161164180-161164180 + TCGA-BG-A0M0-01 COSM898484 c.644G>A p.R215Q Substitution - Missense 1:161162081-161162081 + B34 COSM1756837 c.1501G>A p.V501I Substitution - Missense 1:161165037-161165037 + TCGA-EE-A181-06 COSM3477187 c.1246C>T p.L416L Substitution - coding silent 1:161164191-161164191 + TCGA-AR-A0TS-01 COSM424368 c.1338delT p.S446fs*5 Deletion - Frameshift 1:161164566-161164566 + TCGA-AD-6889-01 COSM1335632 c.431T>A p.L144H Substitution - Missense 1:161161071-161161071 + TCGA-AD-6889-01 COSM1335630 c.286C>A p.P96T Substitution - Missense 1:161160926-161160926 + 107384 COSM95439 c.956G>A p.R319H Substitution - Missense 1:161162981-161162981 + TCGA-33-4566-01 COSM676671 c.426G>T p.L142F Substitution - Missense 1:161161066-161161066 + TCGA-EB-A430-01 COSM3477184 c.505C>T p.L169L Substitution - coding silent 1:161161145-161161145 + STC263 COSM5052728 c.573T>G p.S191S Substitution - coding silent 1:161161213-161161213 + CSCC-31-T COSM4465920 c.1406C>T p.S469F Substitution - Missense 1:161164856-161164856 + STC232 COSM207323 c.1539C>T p.S513S Substitution - coding silent 1:161165075-161165075 + C058 COSM5525795 c.1172C>T p.S391F Substitution - Missense 1:161163935-161163935 + 1_RESISTANT COSM1720940 c.160_161CC>TT p.P54F Substitution - Missense 1:161160800-161160801 + TCGA-B7-5816-01 COSM4024322 c.257A>G p.H86R Substitution - Missense 1:161160897-161160897 + TCGA-AN-A046-01 COSM3802558 c.1093C>T p.R365* Substitution - Nonsense 1:161163598-161163598 + TCGA-EE-A29L-06 COSM3477180 c.11C>T p.A4V Substitution - Missense 1:161160651-161160651 + K48 COSM249153 c.365T>C p.M122T Substitution - Missense 1:161161005-161161005 + TCGA-DA-A1HY-06 COSM898486 c.1183G>A p.E395K Substitution - Missense 1:161163946-161163946 + AOCS-134-3-9 COSM3979993 c.198G>A p.L66L Substitution - coding silent 1:161160838-161160838 + 2492726 COSM5725299 c.1471G>A p.D491N Substitution - Missense 1:161164921-161164921 + TCGA-D9-A6EC-06 COSM4401014 c.1121T>G p.F374C Substitution - Missense 1:161163884-161163884 + TCGA-AP-A051-01 COSM898485 c.1018G>T p.G340* Substitution - Nonsense 1:161163043-161163043 + 259091 COSM3725147 c.254A>T p.D85V Substitution - Missense 1:161160894-161160894 + Pat_45_B COSM5844250 c.563C>T p.A188V Substitution - Missense 1:161161203-161161203 + B34-Tumor COSM1756837 c.1501G>A p.V501I Substitution - Missense 1:161165037-161165037 + 88177 COSM95440 c.1013G>A p.R338H Substitution - Missense 1:161163038-161163038 + DLD1 COSM2086784 c.822C>T p.S274S Substitution - coding silent 1:161162655-161162655 + TCGA-BT-A42C-01 COSM4390084 c.166C>T p.P56S Substitution - Missense 1:161160806-161160806 + TCGA-CM-4746-01 COSM1335631 c.427G>A p.A143T Substitution - Missense 1:161161067-161161067 + PDA_077 COSM5002224 c.587C>G p.S196C Substitution - Missense 1:161161227-161161227 + OSCC-GB_00240111 COSM3710369 c.1086C>A p.Y362* Substitution - Nonsense 1:161163591-161163591 + TCGA-B2-4101-01 COSM3360436 c.1587G>T p.W529C Substitution - Missense 1:161165123-161165123 + 587284 COSM1232002 c.661-2A>G p.? Unknown 1:161162268-161162268 + PTC-7C COSM4142909 c.962G>A p.G321D Substitution - Missense 1:161162987-161162987 + YULONE COSM5378205 c.581T>A p.F194Y Substitution - Missense 1:161161221-161161221 + SNU-175 COSM2086765 c.32G>A p.R11H Substitution - Missense 1:161160672-161160672 + TCGA-BR-4184-01 COSM4024321 c.133C>T p.P45S Substitution - Missense 1:161160773-161160773 + sysucc-880T COSM5462048 c.251C>T p.A84V Substitution - Missense 1:161160891-161160891 + B52 COSM1747880 c.178G>A p.D60N Substitution - Missense 1:161160818-161160818 + Pat_24_B COSM5844251 c.1372A>G p.I458V Substitution - Missense 1:161164600-161164600 + T1 COSM5617596 c.65G>A p.R22Q Substitution - Missense 1:161160705-161160705 + TCGA-AP-A05N-01 COSM898490 c.1540G>A p.V514I Substitution - Missense 1:161165076-161165076 + sysucc-1838T COSM5763589 c.230G>A p.R77H Substitution - Missense 1:161160870-161160870 + 1_PRE-TREATMENT COSM1720940 c.160_161CC>TT p.P54F Substitution - Missense 1:161160800-161160801 + LUAD-E00934 COSM404925 c.1265delT p.F423fs*7 Deletion - Frameshift 1:161164210-161164210 + TCGA-FW-A3R5-06 COSM3863329 c.504C>T p.T168T Substitution - coding silent 1:161161144-161161144 + TCGA-60-2698-01 COSM676667 c.1606C>T p.R536C Substitution - Missense 1:161165142-161165142 + LC_S13 COSM1190696 c.1419_1420delCA p.S476fs*19 Deletion - Frameshift 1:161164869-161164870 + pfg043T COSM4763264 c.1396T>G p.F466V Substitution - Missense 1:161164846-161164846 + TCGA-EK-A2RO-01 COSM4848783 c.1381C>T p.L461F Substitution - Missense 1:161164609-161164609 + TCGA-BG-A0M4-01 COSM898481 c.244C>A p.L82I Substitution - Missense 1:161160884-161160884 + CSCC-40-T COSM4024326 c.1249C>T p.R417W Substitution - Missense 1:161164194-161164194 + HCC058T COSM5804940 c.522A>T p.T174T Substitution - coding silent 1:161161162-161161162 + TCGA-A5-A0GP-01 COSM898488 c.1397T>G p.F466C Substitution - Missense 1:161164847-161164847 + HCT15 COSM2086784 c.822C>T p.S274S Substitution - coding silent 1:161162655-161162655 + TCGA-A6-5661-01 COSM1335634 c.1058A>G p.D353G Substitution - Missense 1:161163563-161163563 + 2492730 COSM5729269 c.368G>T p.G123V Substitution - Missense 1:161161008-161161008 + CSCC-20-T COSM4511916 c.884C>T p.S295F Substitution - Missense 1:161162717-161162717 + TCGA-13-0755-01 COSM76967 c.666C>T p.F222F Substitution - coding silent 1:161162275-161162275 + TCGA-D3-A3MV-06 COSM3477182 c.256C>T p.H86Y Substitution - Missense 1:161160896-161160896 + HCT116 COSM2086793 c.1231delG p.G412fs*18 Deletion - Frameshift 1:161164176-161164176 + CSCC-10-T COSM4515949 c.1447_1448CC>TT p.P483L Substitution - Missense 1:161164897-161164898 + Pat_41_A COSM5844252 c.1415C>T p.S472F Substitution - Missense 1:161164865-161164865 + TCGA-61-2088-01 COSM117705 c.388C>T p.R130C Substitution - Missense 1:161161028-161161028 + CSCC-29-T COSM4502561 c.616C>T p.L206F Substitution - Missense 1:161162053-161162053 + YURIF COSM1689010 c.1375C>A p.L459I Substitution - Missense 1:161164603-161164603 + TCGA-D1-A167-01 COSM898478 c.31C>T p.R11C Substitution - Missense 1:161160671-161160671 + TCGA-FS-A1ZS-06 COSM3477183 c.491C>T p.P164L Substitution - Missense 1:161161131-161161131 + 24T COSM3710369 c.1086C>A p.Y362* Substitution - Nonsense 1:161163591-161163591 + TCGA-BR-4256-01 COSM4024323 c.562G>A p.A188T Substitution - Missense 1:161161202-161161202 + T2621 COSM4739714 c.1367C>T p.P456L Substitution - Missense 1:161164595-161164595 + LUAD-RT-S01840 COSM384703 c.113G>T p.R38L Substitution - Missense 1:161160753-161160753 + WA38 COSM242193 c.473G>A p.R158H Substitution - Missense 1:161161113-161161113 + CHEWS017 COSM4576478 c.112C>T p.R38C Substitution - Missense 1:161160752-161160752 + pfg122T COSM4763265 c.1654G>A p.V552M Substitution - Missense 1:161165403-161165403 + BD141T COSM5516921 c.209G>A p.R70Q Substitution - Missense 1:161160849-161160849 + TCGA-G4-6586-01 COSM207321 c.164G>A p.R55Q Substitution - Missense 1:161160804-161160804 + CSCC-27-T COSM4499579 c.545C>T p.S182F Substitution - Missense 1:161161185-161161185 + 587222 COSM1232000 c.1334G>A p.R445Q Substitution - Missense 1:161164562-161164562 + BCM723T COSM4024323 c.562G>A p.A188T Substitution - Missense 1:161161202-161161202 + B89-12 COSM1756836 c.1131G>C p.Q377H Substitution - Missense 1:161163894-161163894 + B89-12-Tumor COSM1756836 c.1131G>C p.Q377H Substitution - Missense 1:161163894-161163894 + PR-05-3595 COSM248236 c.736C>T p.R246W Substitution - Missense 1:161162345-161162345 + TCGA-AP-A0LM-01 COSM898486 c.1183G>A p.E395K Substitution - Missense 1:161163946-161163946 + TCGA-MI-A75I-01 COSM4930230 c.774C>T p.L258L Substitution - coding silent 1:161162383-161162383 + TCGA-AA-A010-01 COSM286385 c.535T>C p.S179P Substitution - Missense 1:161161175-161161175 + I2L-P19Ta-Tumor-Biopsy COSM5352928 c.458G>A p.R153H Substitution - Missense 1:161161098-161161098 + TCGA-24-1435-01 COSM76966 c.374C>T p.A125V Substitution - Missense 1:161161014-161161014 + YUKAT COSM5378206 c.1213C>T p.P405S Substitution - Missense 1:161163976-161163976 + ESO-601 COSM1270059 c.1377C>T p.L459L Substitution - coding silent 1:161164605-161164605 + BD165T COSM898483 c.476G>A p.R159H Substitution - Missense 1:161161116-161161116 + TCGA-AF-6655-01 COSM1559888 c.481G>A p.G161R Substitution - Missense 1:161161121-161161121 + TCGA-EE-A2MR-06 COSM3477188 c.1613C>T p.S538F Substitution - Missense 1:161165362-161165362 + TCGA-BR-4257-01 COSM4024327 c.1519C>T p.L507F Substitution - Missense 1:161165055-161165055 + MOLT-4 COSM1668154 c.1279G>T p.E427* Substitution - Nonsense 1:161164224-161164224 + TCGA-AA-3966-01 COSM273447 c.1232G>T p.G411V Substitution - Missense 1:161164177-161164177 + C547 COSM4024326 c.1249C>T p.R417W Substitution - Missense 1:161164194-161164194 + 3N41-VS-3T41 COSM4981750 c.948A>T p.E316D Substitution - Missense 1:161162973-161162973 + TCGA-43-3920-01 COSM676669 c.841A>T p.T281S Substitution - Missense 1:161162674-161162674 + TCGA-EB-A431-01 COSM2086786 c.849C>T p.F283F Substitution - coding silent 1:161162682-161162682 + Au4 COSM5605303 c.267C>T p.P89P Substitution - coding silent 1:161160907-161160907 + TCGA-ER-A193-06 COSM3477186 c.1219-1G>A p.? Unknown 1:161164163-161164163 + CSCC-7-T COSM4480554 c.242C>T p.P81L Substitution - Missense 1:161160882-161160882 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.8015 1q22 604729 2423600|CGAP|BC090946|C/T|non-coding||2206|Validated; 2423603|CGAP|BC090946|A/G|coding|Gly321Asp|1286|Validated; 1512742|dbSNP|BC003130|C/T|non-coding||1617|Confirmed; 1512742|dbSNP|BC090946|C/T|non-coding||2206|Confirmed

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - A Frameshift p.S476Kfs*20 c.1426dupA 1 161134660 RCCC A - Frameshift p.S476Vfs*3 c.1426delA 1 161134660 STAD A G Missense p.H86R c.257A>G 1 161130687 STAD A T Missense p.T281S c.841A>T 1 161132464 LUSC C A Missense p.L400M c.1198C>A 1 161133751 UCEC C A Missense p.L82I c.244C>A 1 161130674 UCEC C A Synonymous p.R13R c.37C>A 1 161130467 STAD C G Missense p.P28R c.83C>G 1 161130513 MM C T IntronicSNV . c.1219-23C>T 1 161133931 CM C T Missense p.A125V c.374C>T 1 161130804 OV C T Missense p.A4V c.11C>T 1 161130441 CM C T Missense p.H86Y c.256C>T 1 161130686 CM C T Missense p.L507F c.1519C>T 1 161134845 STAD C T Missense p.P164L c.491C>T 1 161130921 CM C T Missense p.R130C c.388C>T 1 161130818 OV C T Missense p.R322C c.964C>T 1 161132779 CM C T Missense p.R361C c.1081C>T 1 161133376 STAD C T Missense p.R441W c.1321C>T 1 161134339 CM C T Nonsense p.R83* c.247C>T 1 161130677 CM C T Synonymous p.F222F c.666C>T 1 161132065 OV C T Synonymous p.L416L c.1246C>T 1 161133981 CM C T Synonymous p.L90L c.268C>T 1 161130698 LUAD C T Synonymous p.S401S c.1203C>T 1 161133756 LUSC C T Synonymous p.S538S c.1614C>T 1 161135153 CM CTT - InFrameDeletion p.F294delF c.881_883delTCT 1 161132502 LGG G A IntronicSNV . c.1384+33G>A 1 161134435 CM G A Missense p.A188T c.562G>A 1 161130992 STAD G A Missense p.E395K c.1183G>A 1 161133736 CM G A Missense p.M122I c.366G>A 1 161130796 BLCA G A Missense p.R215Q c.644G>A 1 161131871 UCEC G A Missense p.R34H c.101G>A 1 161130531 HNSC G A Missense p.S116N c.347G>A 1 161130777 UCEC G A SpliceAcceptorSNV . c.1219-1G>A 1 161133953 CM G C SpliceDonorSNV . c.1114+1G>C 1 161133410 STAD G T Missense p.D352Y c.1054G>T 1 161133349 BRCA G T Missense p.G161W c.481G>T 1 161130911 LUSC G T Missense p.W529C c.1587G>T 1 161134913 RCCC G T Synonymous p.R62R c.186G>T 1 161130616 LUAD T C Missense p.I19T c.56T>C 1 161130486 STAD T C Missense p.I266T c.797T>C 1 161132420 LUAD - T Frameshift p.A329Cfs*20 c.984dupT 1 161132798 HNSC T - Frameshift p.S446Rfs*5 c.1338delT 1 161134356 BRCA T G Missense p.F466C c.1397T>G 1 161134637 UCEC