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 23 22291226 22291226 + Missense_Mutation SNP G G T TCGA-K4-A6FZ-01A-11D-A31L-08 TCGA-K4-A6FZ-10A-01D-A31J-08 g.chrX:22291226G>T c.118G>T c.(118-120)Gac>Tac p.D40Y BLCA 23 22291514 22291514 + Missense_Mutation SNP C C T TCGA-GV-A3QG-01A-11D-A21Z-08 TCGA-GV-A3QG-10A-01D-A21Z-08 g.chrX:22291514C>T c.406C>T c.(406-408)Cgc>Tgc p.R136C BLCA 23 22291896 22291896 + Missense_Mutation SNP G G A TCGA-CU-A3KJ-01A-11D-A21A-08 TCGA-CU-A3KJ-10A-01D-A21A-08 g.chrX:22291896G>A c.788G>A c.(787-789)tGt>tAt p.C263Y BLCA 23 22291957 22291957 + Silent SNP G G A TCGA-C4-A0F7-01A-11D-A10S-08 TCGA-C4-A0F7-10A-01D-A10S-08 g.chrX:22291957G>A c.849G>A c.(847-849)gcG>gcA p.A283A BRCA 23 22291680 22291680 + Missense_Mutation SNP C C T TCGA-PE-A5DC-01A-12D-A27P-09 TCGA-PE-A5DC-10A-01D-A27P-09 g.chrX:22291680C>T c.572C>T c.(571-573)cCg>cTg p.P191L BRCA 23 22291800 22291800 + Missense_Mutation SNP T T A TCGA-AR-A2LK-01A-11D-A17W-09 TCGA-AR-A2LK-10A-01D-A17W-09 g.chrX:22291800T>A c.692T>A c.(691-693)tTt>tAt p.F231Y BRCA 23 22291960 22291960 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chrX:22291960A>C c.852A>C c.(850-852)ccA>ccC p.P284P BRCA 23 22292144 22292144 + Nonsense_Mutation SNP C C T TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 g.chrX:22292144C>T c.1036C>T c.(1036-1038)Caa>Taa p.Q346* CESC 23 22291431 22291431 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chrX:22291431G>A c.323G>A c.(322-324)cGa>cAa p.R108Q CESC 23 22291584 22291584 + Missense_Mutation SNP C C T TCGA-DS-A0VK-01A-21D-A10S-08 TCGA-DS-A0VK-10A-01D-A10S-08 g.chrX:22291584C>T c.476C>T c.(475-477)cCg>cTg p.P159L CESC 23 22291649 22291649 + Missense_Mutation SNP C C G TCGA-DG-A2KM-01A-11D-A17W-09 TCGA-DG-A2KM-10A-01D-A17W-09 g.chrX:22291649C>G c.541C>G c.(541-543)Cca>Gca p.P181A COAD 23 22291207 22291207 + Silent SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:22291207T>C c.99T>C c.(97-99)atT>atC p.I33I COAD 23 22291295 22291295 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chrX:22291295C>T c.187C>T c.(187-189)Cct>Tct p.P63S COAD 23 22291296 22291296 + Missense_Mutation SNP C C T TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chrX:22291296C>T c.188C>T c.(187-189)cCt>cTt p.P63L COAD 23 22291390 22291390 + Silent SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chrX:22291390G>A c.282G>A c.(280-282)ccG>ccA p.P94P COAD 23 22291526 22291526 + Missense_Mutation SNP A A G TCGA-AA-3979-01A-01W-0995-10 TCGA-AA-3979-10A-01W-0999-10 g.chrX:22291526A>G c.418A>G c.(418-420)Aga>Gga p.R140G COAD 23 22291568 22291568 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chrX:22291568C>T c.460C>T c.(460-462)Cgt>Tgt p.R154C COAD 23 22291624 22291624 + Missense_Mutation SNP A A C TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chrX:22291624A>C c.516A>C c.(514-516)caA>caC p.Q172H COAD 23 22291938 22291938 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chrX:22291938C>T c.830C>T c.(829-831)cCt>cTt p.P277L COAD 23 22292061 22292061 + Missense_Mutation SNP C C T TCGA-AA-A00O-01A-02W-A00E-09 TCGA-AA-A00O-10A-01W-A00E-09 g.chrX:22292061C>T c.953C>T c.(952-954)aCg>aTg p.T318M COAD 23 22292137 22292137 + Silent SNP C C A TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chrX:22292137C>A c.1029C>A c.(1027-1029)ccC>ccA p.P343P COADREAD 23 22291207 22291207 + Silent SNP T T C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chrX:22291207T>C c.99T>C c.(97-99)atT>atC p.I33I COADREAD 23 22291295 22291295 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chrX:22291295C>T c.187C>T c.(187-189)Cct>Tct p.P63S COADREAD 23 22291296 22291296 + Missense_Mutation SNP C C T TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chrX:22291296C>T c.188C>T c.(187-189)cCt>cTt p.P63L COADREAD 23 22291390 22291390 + Silent SNP G G A TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chrX:22291390G>A c.282G>A c.(280-282)ccG>ccA p.P94P COADREAD 23 22291524 22291524 + Missense_Mutation SNP A A T TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chrX:22291524A>T c.416A>T c.(415-417)aAg>aTg p.K139M COADREAD 23 22291526 22291526 + Missense_Mutation SNP A A G TCGA-AA-3979-01A-01W-0995-10 TCGA-AA-3979-10A-01W-0999-10 g.chrX:22291526A>G c.418A>G c.(418-420)Aga>Gga p.R140G COADREAD 23 22291568 22291568 + Missense_Mutation SNP C C T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chrX:22291568C>T c.460C>T c.(460-462)Cgt>Tgt p.R154C COADREAD 23 22291624 22291624 + Missense_Mutation SNP A A C TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chrX:22291624A>C c.516A>C c.(514-516)caA>caC p.Q172H COADREAD 23 22291938 22291938 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chrX:22291938C>T c.830C>T c.(829-831)cCt>cTt p.P277L COADREAD 23 22291957 22291957 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:22291957G>A c.849G>A c.(847-849)gcG>gcA p.A283A COADREAD 23 22291957 22291957 + Silent SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chrX:22291957G>A c.849G>A c.(847-849)gcG>gcA p.A283A COADREAD 23 22292061 22292061 + Missense_Mutation SNP C C T TCGA-AA-A00O-01A-02W-A00E-09 TCGA-AA-A00O-10A-01W-A00E-09 g.chrX:22292061C>T c.953C>T c.(952-954)aCg>aTg p.T318M COADREAD 23 22292068 22292068 + Silent SNP C C T TCGA-AG-3611-01A-01W-0833-10 TCGA-AG-3611-10A-01W-0833-10 g.chrX:22292068C>T c.960C>T c.(958-960)taC>taT p.Y320Y COADREAD 23 22292137 22292137 + Silent SNP C C A TCGA-AA-3496-01A-21D-1835-10 TCGA-AA-3496-11A-01D-1835-10 g.chrX:22292137C>A c.1029C>A c.(1027-1029)ccC>ccA p.P343P COADREAD 23 22292291 22292291 + Nonsense_Mutation SNP C C T TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chrX:22292291C>T c.1183C>T c.(1183-1185)Cga>Tga p.R395* COADREAD 23 22292316 22292316 + Missense_Mutation SNP G G T TCGA-AF-2691-01A-01W-0831-10 TCGA-AF-2691-10A-01W-0831-10 g.chrX:22292316G>T c.1208G>T c.(1207-1209)cGg>cTg p.R403L DLBC 23 22291942 22291942 + Silent SNP G G A TCGA-G8-6914-01A-11D-2210-10 TCGA-G8-6914-14A-01D-2210-10 g.chrX:22291942G>A c.834G>A c.(832-834)caG>caA p.Q278Q GBM 23 22292090 22292090 + Missense_Mutation SNP A A T TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 g.chrX:22292090A>T c.982A>T c.(982-984)Att>Ttt p.I328F GBMLGG 23 22291314 22291314 + Missense_Mutation SNP G G A TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 g.chrX:22291314G>A c.206G>A c.(205-207)cGa>cAa p.R69Q GBMLGG 23 22291550 22291550 + Missense_Mutation SNP G G A TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 g.chrX:22291550G>A c.442G>A c.(442-444)Gct>Act p.A148T GBMLGG 23 22292090 22292090 + Missense_Mutation SNP A A T TCGA-06-5417-01A-01D-1486-08 TCGA-06-5417-10A-01D-1486-08 g.chrX:22292090A>T c.982A>T c.(982-984)Att>Ttt p.I328F HNSC 23 22291314 22291314 + Missense_Mutation SNP G G A TCGA-MT-A67F-01A-11D-A30E-08 TCGA-MT-A67F-10A-01D-A30H-08 g.chrX:22291314G>A c.206G>A c.(205-207)cGa>cAa p.R69Q HNSC 23 22291390 22291390 + Silent SNP G G C TCGA-KU-A66S-01A-21D-A30E-08 TCGA-KU-A66S-10A-01D-A30H-08 g.chrX:22291390G>C c.282G>C c.(280-282)ccG>ccC p.P94P HNSC 23 22291692 22291692 + Missense_Mutation SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chrX:22291692A>G c.584A>G c.(583-585)cAt>cGt p.H195R LGG 23 22291314 22291314 + Missense_Mutation SNP G G A TCGA-HT-7874-01A-11D-2395-08 TCGA-HT-7874-10A-01D-2396-08 g.chrX:22291314G>A c.206G>A c.(205-207)cGa>cAa p.R69Q LGG 23 22291550 22291550 + Missense_Mutation SNP G G A TCGA-HT-A615-01A-11D-A29Q-08 TCGA-HT-A615-10A-01D-A29Q-08 g.chrX:22291550G>A c.442G>A c.(442-444)Gct>Act p.A148T LIHC 23 22291149 22291149 + Missense_Mutation SNP A A G TCGA-2Y-A9GT-01A-11D-A382-10 TCGA-2Y-A9GT-10A-01D-A385-10 g.chrX:22291149A>G c.41A>G c.(40-42)aAc>aGc p.N14S LUAD 23 22291122 22291123 + Frame_Shift_Ins INS - - T TCGA-78-7542-01A-21D-2063-08 TCGA-78-7542-11A-01D-2063-08 g.chrX:22291122_22291123insT c.14_15insT c.(13-18)cctgctfs p.A6fs LUAD 23 22291375 22291375 + Silent SNP A A T TCGA-44-5644-01A-21D-2036-08 TCGA-44-5644-10A-01D-2036-08 g.chrX:22291375A>T c.267A>T c.(265-267)ggA>ggT p.G89G LUAD 23 22291500 22291500 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chrX:22291500A>T c.392A>T c.(391-393)cAg>cTg p.Q131L LUAD 23 22291576 22291576 + Silent SNP T T C TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chrX:22291576T>C c.468T>C c.(466-468)caT>caC p.H156H LUAD 23 22291637 22291637 + Missense_Mutation SNP C C A TCGA-17-Z001-01A-01W-0746-08 TCGA-17-Z001-11A-01W-0746-08 g.chrX:22291637C>A c.529C>A c.(529-531)Cta>Ata p.L177I LUAD 23 22291878 22291878 + Missense_Mutation SNP C C A TCGA-55-7995-01A-11D-2184-08 TCGA-55-7995-10A-01D-2184-08 g.chrX:22291878C>A c.770C>A c.(769-771)cCc>cAc p.P257H LUAD 23 22291911 22291911 + Missense_Mutation SNP C C A TCGA-55-A494-01A-11D-A24P-08 TCGA-55-A494-10A-01D-A24P-08 g.chrX:22291911C>A c.803C>A c.(802-804)gCg>gAg p.A268E LUAD 23 22291956 22291956 + Missense_Mutation SNP C C T TCGA-J2-8192-01A-11D-2238-08 TCGA-J2-8192-10A-01D-2238-08 g.chrX:22291956C>T c.848C>T c.(847-849)gCg>gTg p.A283V LUAD 23 22292142 22292142 + Missense_Mutation SNP C C A TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chrX:22292142C>A c.1034C>A c.(1033-1035)tCt>tAt p.S345Y LUAD 23 22292161 22292161 + Silent SNP T T A TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 g.chrX:22292161T>A c.1053T>A c.(1051-1053)tcT>tcA p.S351S LUAD 23 22292349 22292349 + Nonsense_Mutation SNP C C A TCGA-83-5908-01A-21D-2284-08 TCGA-83-5908-10A-01D-2284-08 g.chrX:22292349C>A c.1241C>A c.(1240-1242)tCa>tAa p.S414* LUSC 23 22291349 22291349 + Frame_Shift_Del DEL T T - TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 g.chrX:22291349delT c.241delT c.(241-243)tgtfs p.C81fs LUSC 23 22291404 22291404 + Missense_Mutation SNP C C A TCGA-66-2763-01A-01D-1522-08 TCGA-66-2763-11A-01D-1522-08 g.chrX:22291404C>A c.296C>A c.(295-297)cCt>cAt p.P99H LUSC 23 22291549 22291549 + Missense_Mutation SNP C C A TCGA-66-2727-01A-01D-0983-08 TCGA-66-2727-11A-01D-0983-08 g.chrX:22291549C>A c.441C>A c.(439-441)agC>agA p.S147R LUSC 23 22292129 22292129 + Missense_Mutation SNP C C T TCGA-66-2768-01A-01D-1522-08 TCGA-66-2768-11A-01D-1522-08 g.chrX:22292129C>T c.1021C>T c.(1021-1023)Cgt>Tgt p.R341C LUSC 23 22292313 22292313 + Missense_Mutation SNP C C A TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chrX:22292313C>A c.1205C>A c.(1204-1206)aCg>aAg p.T402K LUSC 23 22292376 22292376 + Missense_Mutation SNP G G C TCGA-22-4604-01A-01D-1267-08 TCGA-22-4604-11A-01D-1267-08 g.chrX:22292376G>C c.1268G>C c.(1267-1269)aGa>aCa p.R423T OV 23 22291314 22291314 + Missense_Mutation SNP G G C TCGA-61-1913-01A-01W-0639-09 TCGA-61-1913-11A-01W-0640-09 g.chrX:22291314G>C c.206G>C c.(205-207)cGa>cCa p.R69P OV 23 22291956 22291956 + Missense_Mutation SNP C C T TCGA-30-1856-01A-01W-0639-09 TCGA-30-1856-10A-01W-0639-09 g.chrX:22291956C>T c.848C>T c.(847-849)gCg>gTg p.A283V PAAD 23 22291423 22291423 + Silent SNP G G A TCGA-XN-A8T5-01A-12D-A36O-08 TCGA-XN-A8T5-10A-01D-A367-08 g.chrX:22291423G>A c.315G>A c.(313-315)gcG>gcA p.A105A PAAD 23 22292031 22292031 + Missense_Mutation SNP C C T TCGA-LB-A7SX-01A-11D-A33T-08 TCGA-LB-A7SX-10A-01D-A33W-08 g.chrX:22292031C>T c.923C>T c.(922-924)tCg>tTg p.S308L PAAD 23 22292036 22292036 + Missense_Mutation SNP C C T TCGA-IB-A5ST-01A-11D-A32N-08 TCGA-IB-A5ST-10A-01D-A32N-08 g.chrX:22292036C>T c.928C>T c.(928-930)Cgt>Tgt p.R310C PAAD 23 22292216 22292216 + Missense_Mutation SNP G G A TCGA-LB-A8F3-01A-11D-A36O-08 TCGA-LB-A8F3-10A-01D-A367-08 g.chrX:22292216G>A c.1108G>A c.(1108-1110)Gaa>Aaa p.E370K PRAD 23 22291617 22291617 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chrX:22291617G>A c.509G>A c.(508-510)aGa>aAa p.R170K READ 23 22291524 22291524 + Missense_Mutation SNP A A T TCGA-G5-6235-01A-11D-1733-10 TCGA-G5-6235-10A-01D-1733-10 g.chrX:22291524A>T c.416A>T c.(415-417)aAg>aTg p.K139M READ 23 22291957 22291957 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:22291957G>A c.849G>A c.(847-849)gcG>gcA p.A283A READ 23 22291957 22291957 + Silent SNP G G A TCGA-AG-A02N-01A-11W-A096-10 TCGA-AG-A02N-11A-11W-A096-10 g.chrX:22291957G>A c.849G>A c.(847-849)gcG>gcA p.A283A READ 23 22292068 22292068 + Silent SNP C C T TCGA-AG-3611-01A-01W-0833-10 TCGA-AG-3611-10A-01W-0833-10 g.chrX:22292068C>T c.960C>T c.(958-960)taC>taT p.Y320Y READ 23 22292291 22292291 + Nonsense_Mutation SNP C C T TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chrX:22292291C>T c.1183C>T c.(1183-1185)Cga>Tga p.R395* READ 23 22292316 22292316 + Missense_Mutation SNP G G T TCGA-AF-2691-01A-01W-0831-10 TCGA-AF-2691-10A-01W-0831-10 g.chrX:22292316G>T c.1208G>T c.(1207-1209)cGg>cTg p.R403L SARC 23 22291373 22291373 + Missense_Mutation SNP G G A TCGA-DX-A6Z0-01A-13D-A36J-09 TCGA-DX-A6Z0-10B-01D-A36M-09 g.chrX:22291373G>A c.265G>A c.(265-267)Gga>Aga p.G89R SKCM 23 22291289 22291289 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chrX:22291289G>A c.181G>A c.(181-183)Gat>Aat p.D61N SKCM 23 22291568 22291568 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chrX:22291568C>T c.460C>T c.(460-462)Cgt>Tgt p.R154C SKCM 23 22291889 22291889 + Missense_Mutation SNP C C T TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chrX:22291889C>T c.781C>T c.(781-783)Cct>Tct p.P261S SKCM 23 22291917 22291917 + Missense_Mutation SNP C C T TCGA-GF-A4EO-06A-12D-A24R-08 TCGA-GF-A4EO-10A-01D-A24R-08 g.chrX:22291917C>T c.809C>T c.(808-810)tCg>tTg p.S270L SKCM 23 22291921 22291921 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chrX:22291921C>T c.813C>T c.(811-813)tcC>tcT p.S271S SKCM 23 22291979 22291979 + Missense_Mutation SNP C C T TCGA-D3-A51F-06A-11D-A25O-08 TCGA-D3-A51F-10A-01D-A25O-08 g.chrX:22291979C>T c.871C>T c.(871-873)Cca>Tca p.P291S SKCM 23 22292036 22292036 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chrX:22292036C>T c.928C>T c.(928-930)Cgt>Tgt p.R310C SKCM 23 22292062 22292062 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chrX:22292062G>A c.954G>A c.(952-954)acG>acA p.T318T SKCM 23 22292216 22292216 + Missense_Mutation SNP G G A TCGA-EE-A29M-06A-11D-A196-08 TCGA-EE-A29M-10A-01D-A198-08 g.chrX:22292216G>A c.1108G>A c.(1108-1110)Gaa>Aaa p.E370K SKCM 23 22292286 22292286 + Nonsense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chrX:22292286G>A c.1178G>A c.(1177-1179)tGg>tAg p.W393*

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 X 22291774 22291774 single base substitution C A synonymous_variant P222P 666C>A BLCA-US X 22291514 22291514 single base substitution C T missense_variant R136C 406C>T BLCA-US X 22291896 22291896 single base substitution G A missense_variant C263Y 788G>A BLCA-US X 22291957 22291957 single base substitution G A synonymous_variant A283A 849G>A BRCA-EU X 22286169 22286169 single base substitution G A upstream_gene_variant BRCA-EU X 22287543 22287543 single base substitution C T upstream_gene_variant BRCA-EU X 22288044 22288044 single base substitution A T upstream_gene_variant BRCA-EU X 22289711 22289711 single base substitution T G upstream_gene_variant BRCA-EU X 22290917 22290917 single base substitution G A upstream_gene_variant BRCA-EU X 22290943 22290943 single base substitution G A upstream_gene_variant BRCA-EU X 22291373 22291373 single base substitution G A missense_variant G89R 265G>A BRCA-EU X 22291642 22291642 single base substitution C T synonymous_variant S178S 534C>T BRCA-EU X 22292036 22292036 single base substitution C T missense_variant R310C 928C>T BRCA-EU X 22293211 22293211 single base substitution C T downstream_gene_variant BRCA-EU X 22293466 22293466 single base substitution C T downstream_gene_variant BRCA-EU X 22294003 22294003 single base substitution T C downstream_gene_variant BRCA-EU X 22294794 22294794 deletion of <=200bp A - downstream_gene_variant BRCA-EU X 22294934 22294934 single base substitution T C downstream_gene_variant BRCA-EU X 22295142 22295142 single base substitution G T downstream_gene_variant BRCA-EU X 22295820 22295820 single base substitution T G downstream_gene_variant BRCA-EU X 22296552 22296552 single base substitution T C downstream_gene_variant BRCA-EU X 22296996 22296996 single base substitution T C downstream_gene_variant BRCA-EU X 22297196 22297196 single base substitution C A downstream_gene_variant BRCA-EU X 22297294 22297294 deletion of <=200bp T - downstream_gene_variant BRCA-FR X 22287543 22287543 single base substitution C T upstream_gene_variant BRCA-FR X 22295142 22295142 single base substitution G T downstream_gene_variant BRCA-FR X 22295435 22295435 single base substitution C T downstream_gene_variant BRCA-UK X 22297196 22297196 single base substitution C A downstream_gene_variant BRCA-US X 22291800 22291800 single base substitution T A missense_variant F231Y 692T>A BRCA-US X 22291960 22291960 single base substitution A C synonymous_variant P284P 852A>C BRCA-US X 22292144 22292144 single base substitution C T stop_gained Q346* 1036C>T CESC-US X 22291431 22291431 single base substitution G A missense_variant R108Q 323G>A CESC-US X 22291584 22291584 single base substitution C T missense_variant P159L 476C>T CESC-US X 22291649 22291649 single base substitution C G missense_variant P181A 541C>G CLLE-ES X 22297386 22297386 single base substitution A C downstream_gene_variant COAD-US X 22291568 22291568 single base substitution C T missense_variant R154C 460C>T COAD-US X 22291606 22291606 single base substitution C A missense_variant D166E 498C>A COAD-US X 22291624 22291624 single base substitution A C missense_variant Q172H 516A>C COAD-US X 22291732 22291732 single base substitution C T synonymous_variant I208I 624C>T COAD-US X 22291938 22291938 single base substitution C T missense_variant P277L 830C>T COCA-CN X 22292061 22292061 single base substitution C T missense_variant T318M 953C>T ESCA-CN X 22291899 22291899 single base substitution A G missense_variant Q264R 791A>G GBM-US X 22292090 22292090 single base substitution A T missense_variant I328F 982A>T LGG-US X 22291314 22291314 single base substitution G A missense_variant R69Q 206G>A LGG-US X 22291550 22291550 single base substitution G A missense_variant A148T 442G>A LICA-CN X 22291895 22291895 single base substitution T A missense_variant C263S 787T>A LICA-FR X 22291545 22291545 single base substitution C A missense_variant T146N 437C>A LICA-FR X 22292879 22292879 single base substitution T G downstream_gene_variant LICA-FR X 22293061 22293061 single base substitution G T downstream_gene_variant LIHC-US X 22291221 22291221 single base substitution G T missense_variant W38L 113G>T LINC-JP X 22292366 22292366 single base substitution A T stop_gained R420* 1258A>T LIRI-JP X 22286654 22286654 single base substitution C T upstream_gene_variant LIRI-JP X 22288069 22288069 single base substitution T C upstream_gene_variant LIRI-JP X 22291976 22291976 single base substitution T C missense_variant S290P 868T>C LIRI-JP X 22293154 22293154 single base substitution T C downstream_gene_variant LIRI-JP X 22293687 22293687 single base substitution C A downstream_gene_variant LIRI-JP X 22294587 22294587 single base substitution G A downstream_gene_variant LIRI-JP X 22294675 22294675 single base substitution G T downstream_gene_variant LIRI-JP X 22296129 22296129 single base substitution T C downstream_gene_variant LIRI-JP X 22297396 22297396 single base substitution G A downstream_gene_variant LUSC-KR X 22287686 22287686 single base substitution T C upstream_gene_variant LUSC-KR X 22290987 22290987 single base substitution G T upstream_gene_variant LUSC-KR X 22292048 22292048 single base substitution C A missense_variant P314T 940C>A LUSC-KR X 22294869 22294869 single base substitution A G downstream_gene_variant LUSC-US X 22291349 22291349 deletion of <=200bp T - frameshift_variant C81 LUSC-US X 22291404 22291404 single base substitution C A missense_variant P99H 296C>A LUSC-US X 22291549 22291549 single base substitution C A missense_variant S147R 441C>A LUSC-US X 22292129 22292129 single base substitution C T missense_variant R341C 1021C>T LUSC-US X 22292313 22292313 single base substitution C A missense_variant T402K 1205C>A LUSC-US X 22292376 22292376 single base substitution G C missense_variant R423T 1268G>C MALY-DE X 22288235 22288235 single base substitution C T upstream_gene_variant MALY-DE X 22288916 22288916 single base substitution C T upstream_gene_variant MALY-DE X 22288957 22288957 single base substitution A G upstream_gene_variant MALY-DE X 22292758 22292758 deletion of <=200bp T - downstream_gene_variant MALY-DE X 22293019 22293019 single base substitution G C downstream_gene_variant MALY-DE X 22293046 22293046 single base substitution T G downstream_gene_variant MALY-DE X 22293128 22293128 single base substitution T A downstream_gene_variant MELA-AU X 22286591 22286591 single base substitution C T upstream_gene_variant MELA-AU X 22286707 22286707 single base substitution G A upstream_gene_variant MELA-AU X 22286779 22286779 single base substitution G A upstream_gene_variant MELA-AU X 22286807 22286807 single base substitution G A upstream_gene_variant MELA-AU X 22287058 22287058 single base substitution G A upstream_gene_variant MELA-AU X 22287188 22287188 single base substitution G A upstream_gene_variant MELA-AU X 22287254 22287254 single base substitution C G upstream_gene_variant MELA-AU X 22287391 22287391 single base substitution C T upstream_gene_variant MELA-AU X 22287522 22287522 single base substitution G A upstream_gene_variant MELA-AU X 22287531 22287531 single base substitution C T upstream_gene_variant MELA-AU X 22287940 22287940 single base substitution C T upstream_gene_variant MELA-AU X 22288243 22288243 single base substitution C T upstream_gene_variant MELA-AU X 22288289 22288289 single base substitution A G upstream_gene_variant MELA-AU X 22288376 22288376 single base substitution G A upstream_gene_variant MELA-AU X 22288728 22288728 single base substitution C T upstream_gene_variant MELA-AU X 22288739 22288739 single base substitution G A upstream_gene_variant MELA-AU X 22289097 22289097 single base substitution C T upstream_gene_variant MELA-AU X 22289260 22289260 single base substitution G A upstream_gene_variant MELA-AU X 22289681 22289681 single base substitution A C upstream_gene_variant MELA-AU X 22289763 22289763 single base substitution G A upstream_gene_variant MELA-AU X 22289819 22289819 single base substitution G A upstream_gene_variant MELA-AU X 22290299 22290299 single base substitution G A upstream_gene_variant MELA-AU X 22290314 22290314 single base substitution G A upstream_gene_variant MELA-AU X 22290332 22290332 single base substitution G A upstream_gene_variant MELA-AU X 22290372 22290372 single base substitution G A upstream_gene_variant MELA-AU X 22290551 22290551 single base substitution A C upstream_gene_variant MELA-AU X 22290563 22290563 single base substitution C T upstream_gene_variant MELA-AU X 22290811 22290811 single base substitution G A upstream_gene_variant MELA-AU X 22290969 22290969 single base substitution C T upstream_gene_variant MELA-AU X 22291015 22291015 single base substitution C T upstream_gene_variant MELA-AU X 22291322 22291322 single base substitution C T missense_variant P72S 214C>T MELA-AU X 22291323 22291323 single base substitution C A missense_variant P72Q 215C>A MELA-AU X 22291568 22291568 single base substitution C T missense_variant R154C 460C>T MELA-AU X 22291659 22291659 single base substitution A C missense_variant Q184P 551A>C MELA-AU X 22291832 22291832 single base substitution C T missense_variant H242Y 724C>T MELA-AU X 22291917 22291917 single base substitution C T missense_variant S270L 809C>T MELA-AU X 22292595 22292595 single base substitution T G downstream_gene_variant MELA-AU X 22293015 22293015 single base substitution A G downstream_gene_variant MELA-AU X 22293211 22293211 single base substitution C T downstream_gene_variant MELA-AU X 22293668 22293668 single base substitution T A downstream_gene_variant MELA-AU X 22293707 22293707 single base substitution C T downstream_gene_variant MELA-AU X 22293709 22293709 single base substitution C T downstream_gene_variant MELA-AU X 22294145 22294145 single base substitution C T downstream_gene_variant MELA-AU X 22294166 22294166 single base substitution G A downstream_gene_variant MELA-AU X 22294290 22294290 single base substitution G A downstream_gene_variant MELA-AU X 22294305 22294305 single base substitution G A downstream_gene_variant MELA-AU X 22294316 22294316 single base substitution A C downstream_gene_variant MELA-AU X 22294741 22294741 single base substitution G A downstream_gene_variant MELA-AU X 22295135 22295135 single base substitution C T downstream_gene_variant MELA-AU X 22295750 22295750 single base substitution C T downstream_gene_variant MELA-AU X 22296091 22296091 single base substitution G A downstream_gene_variant MELA-AU X 22296863 22296863 single base substitution C T downstream_gene_variant MELA-AU X 22297316 22297316 single base substitution C T downstream_gene_variant MELA-AU X 22297489 22297489 single base substitution C T downstream_gene_variant OV-AU X 22287503 22287503 single base substitution C A upstream_gene_variant OV-AU X 22290969 22290969 single base substitution C T upstream_gene_variant OV-AU X 22291870 22291870 single base substitution A G synonymous_variant P254P 762A>G PACA-AU X 22286460 22286460 single base substitution A C upstream_gene_variant PACA-AU X 22286802 22286802 single base substitution A G upstream_gene_variant PACA-AU X 22288341 22288341 single base substitution C T upstream_gene_variant PACA-AU X 22289088 22289088 single base substitution G A upstream_gene_variant PACA-AU X 22289099 22289099 single base substitution C T upstream_gene_variant PACA-AU X 22289817 22289817 single base substitution C T upstream_gene_variant PACA-AU X 22291021 22291021 single base substitution G C upstream_gene_variant PACA-AU X 22292201 22292201 single base substitution T G missense_variant L365V 1093T>G PACA-AU X 22296623 22296623 single base substitution T G downstream_gene_variant PACA-CA X 22288837 22288837 single base substitution G A upstream_gene_variant PACA-CA X 22290832 22290832 single base substitution G A upstream_gene_variant PACA-CA X 22293249 22293249 single base substitution G T downstream_gene_variant PACA-CA X 22293561 22293561 single base substitution T G downstream_gene_variant PACA-CA X 22293996 22293996 single base substitution C A downstream_gene_variant PACA-CA X 22294035 22294035 single base substitution G C downstream_gene_variant PACA-CA X 22295205 22295205 single base substitution G A downstream_gene_variant PACA-CA X 22296047 22296047 single base substitution G A downstream_gene_variant PBCA-DE X 22292007 22292007 single base substitution C T missense_variant P300L 899C>T PBCA-DE X 22292178 22292178 single base substitution C T missense_variant S357F 1070C>T PBCA-DE X 22292545 22292545 single base substitution C A 3_prime_UTR_variant PRAD-UK X 22288765 22288765 single base substitution G C upstream_gene_variant PRAD-UK X 22292759 22292759 single base substitution C G downstream_gene_variant PRAD-UK X 22293116 22293116 single base substitution G A downstream_gene_variant PRAD-UK X 22293946 22293946 single base substitution C A downstream_gene_variant READ-US X 22291397 22291397 single base substitution C T missense_variant R97C 289C>T READ-US X 22291524 22291524 single base substitution A T missense_variant K139M 416A>T READ-US X 22292291 22292291 single base substitution C T stop_gained R395* 1183C>T RECA-EU X 22288891 22288891 single base substitution T C upstream_gene_variant RECA-EU X 22296507 22296507 single base substitution A G downstream_gene_variant SKCA-BR X 22287087 22287087 single base substitution T C upstream_gene_variant SKCA-BR X 22288728 22288728 single base substitution C T upstream_gene_variant SKCA-BR X 22289761 22289761 single base substitution A T upstream_gene_variant SKCA-BR X 22290076 22290076 insertion of <=200bp - TG upstream_gene_variant SKCA-BR X 22290078 22290078 single base substitution T G upstream_gene_variant SKCA-BR X 22291649 22291649 single base substitution C T missense_variant P181S 541C>T SKCA-BR X 22295135 22295135 single base substitution C T downstream_gene_variant SKCM-US X 22291289 22291289 single base substitution G A missense_variant D61N 181G>A SKCM-US X 22291568 22291568 single base substitution C T missense_variant R154C 460C>T SKCM-US X 22291877 22291877 single base substitution C T missense_variant P257S 769C>T SKCM-US X 22291889 22291889 single base substitution C T missense_variant P261S 781C>T SKCM-US X 22291917 22291917 single base substitution C T missense_variant S270L 809C>T SKCM-US X 22291921 22291921 single base substitution C T synonymous_variant S271S 813C>T SKCM-US X 22291979 22291979 single base substitution C T missense_variant P291S 871C>T SKCM-US X 22292036 22292036 single base substitution C T missense_variant R310C 928C>T SKCM-US X 22292062 22292062 single base substitution G A synonymous_variant T318T 954G>A SKCM-US X 22292216 22292216 single base substitution G A missense_variant E370K 1108G>A SKCM-US X 22292286 22292286 single base substitution G A stop_gained W393* 1178G>A STAD-US X 22291233 22291233 single base substitution A G missense_variant K42R 125A>G STAD-US X 22291239 22291239 single base substitution A C missense_variant N44T 131A>C STAD-US X 22291373 22291373 single base substitution G A missense_variant G89R 265G>A STAD-US X 22291397 22291397 single base substitution C T missense_variant R97C 289C>T STAD-US X 22291518 22291518 single base substitution G A missense_variant R137H 410G>A STAD-US X 22291585 22291585 single base substitution G A synonymous_variant P159P 477G>A STAD-US X 22291685 22291685 deletion of <=200bp G - frameshift_variant V193 STAD-US X 22292314 22292314 single base substitution G A synonymous_variant T402T 1206G>A STAD-US X 22292332 22292332 single base substitution A C synonymous_variant S408S 1224A>C UCEC-US X 22291136 22291136 single base substitution G T stop_gained E10* 28G>T UCEC-US X 22291302 22291302 single base substitution A C missense_variant K65T 194A>C UCEC-US X 22291373 22291373 single base substitution G A missense_variant G89R 265G>A UCEC-US X 22291376 22291376 single base substitution T A missense_variant Y90N 268T>A UCEC-US X 22291388 22291388 single base substitution C A missense_variant P94T 280C>A UCEC-US X 22291473 22291473 single base substitution G T missense_variant R122I 365G>T UCEC-US X 22291514 22291514 single base substitution C T missense_variant R136C 406C>T UCEC-US X 22291568 22291568 single base substitution C T missense_variant R154C 460C>T UCEC-US X 22291584 22291584 single base substitution C T missense_variant P159L 476C>T UCEC-US X 22291875 22291875 single base substitution C A missense_variant P256H 767C>A UCEC-US X 22291957 22291957 single base substitution G A synonymous_variant A283A 849G>A UCEC-US X 22292160 22292160 single base substitution C T missense_variant S351F 1052C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T1154 COSM4744546 c.425G>A p.R142Q Substitution - Missense 23:22273416-22273416 + TCGA-EE-A2MR-06 COSM3560420 c.181G>A p.D61N Substitution - Missense 23:22273172-22273172 + TCGA-D3-A51F-06 COSM3560425 c.871C>T p.P291S Substitution - Missense 23:22273862-22273862 + TCGA-66-2768-01 COSM756516 c.1021C>T p.R341C Substitution - Missense 23:22274012-22274012 + TCGA-BS-A0UF-01 COSM1119277 c.28G>T p.E10* Substitution - Nonsense 23:22273019-22273019 + TCGA-GV-A3QG-01 COSM1119283 c.406C>T p.R136C Substitution - Missense 23:22273397-22273397 + S01366 COSM316878 c.254A>G p.Y85C Substitution - Missense 23:22273245-22273245 + LUAD-CHTN-MAD08-00104 COSM361326 c.1204A>G p.T402A Substitution - Missense 23:22274195-22274195 + TCGA-F5-6814-01 COSM3424688 c.289C>T p.R97C Substitution - Missense 23:22273280-22273280 + TCGA-GF-A4EO-06 COSM3560423 c.809C>T p.S270L Substitution - Missense 23:22273800-22273800 + T578 COSM4744546 c.425G>A p.R142Q Substitution - Missense 23:22273416-22273416 + B89-4 COSM1756507 c.666C>A p.P222P Substitution - coding silent 23:22273657-22273657 + TCGA-GN-A266-06 COSM3560427 c.954G>A p.T318T Substitution - coding silent 23:22273945-22273945 + TCGA-AX-A0J0-01 COSM1119282 c.365G>T p.R122I Substitution - Missense 23:22273356-22273356 + TCGA-HU-A4GX-01 COSM3424688 c.289C>T p.R97C Substitution - Missense 23:22273280-22273280 + Pat_11_B COSM4744546 c.425G>A p.R142Q Substitution - Missense 23:22273416-22273416 + TCGA-30-1856-01 COSM1331935 c.848C>T p.A283V Substitution - Missense 23:22273839-22273839 + I2L-P19Ta-Tumor-Organoid COSM5367008 c.294T>C p.Y98Y Substitution - coding silent 23:22273285-22273285 + ICGC_MB76 COSM3764980 c.1070C>T p.S357F Substitution - Missense 23:22274061-22274061 + TCGA-AM-5820-01 COSM3759451 c.624C>T p.I208I Substitution - coding silent 23:22273615-22273615 + TCGA-BR-8678-01 COSM4108648 c.131A>C p.N44T Substitution - Missense 23:22273122-22273122 + ESO-171 COSM1119279 c.265G>A p.G89R Substitution - Missense 23:22273256-22273256 + TCGA-HT-A615-01 COSM3973553 c.442G>A p.A148T Substitution - Missense 23:22273433-22273433 + Pat_60_A COSM5877637 c.1271G>A p.R424Q Substitution - Missense 23:22274262-22274262 + QC2-32-T2 COSM5654422 c.939G>A p.V313V Substitution - coding silent 23:22273930-22273930 + TCGA-FS-A4F5-06 COSM3560426 c.928C>T p.R310C Substitution - Missense 23:22273919-22273919 + 2492710 COSM4744545 c.266G>A p.G89E Substitution - Missense 23:22273257-22273257 + PT32 COSM5907811 c.677A>T p.E226V Substitution - Missense 23:22273668-22273668 + Pat_11_A COSM4744546 c.425G>A p.R142Q Substitution - Missense 23:22273416-22273416 + TCGA-06-5417-01 COSM3406235 c.982A>T p.I328F Substitution - Missense 23:22273973-22273973 + Pat_14_A COSM5877636 c.265G>T p.G89* Substitution - Nonsense 23:22273256-22273256 + TCGA-BR-4362-01 COSM1119279 c.265G>A p.G89R Substitution - Missense 23:22273256-22273256 + STC291 COSM3036711 c.772G>A p.D258N Substitution - Missense 23:22273763-22273763 + CHC1753T COSM4952525 c.437C>A p.T146N Substitution - Missense 23:22273428-22273428 + TCGA-66-2727-01 COSM756517 c.441C>A p.S147R Substitution - Missense 23:22273432-22273432 + S0078 COSM5885009 c.547G>C p.E183Q Substitution - Missense 23:22273538-22273538 + TCGA-DA-A1HV-06 COSM3560422 c.781C>T p.P261S Substitution - Missense 23:22273772-22273772 + TCGA-BS-A0UA-01 COSM1119284 c.460C>T p.R154C Substitution - Missense 23:22273451-22273451 + TCGA-AD-6889-01 COSM1467248 c.830C>T p.P277L Substitution - Missense 23:22273821-22273821 + LUAD-E00918 COSM365454 c.1259G>T p.R420I Substitution - Missense 23:22274250-22274250 + TCGA-D1-A176-01 COSM1119285 c.767C>A p.P256H Substitution - Missense 23:22273758-22273758 + TCGA-HT-7874-01 COSM3973552 c.206G>A p.R69Q Substitution - Missense 23:22273197-22273197 + TCGA-EE-A29L-06 COSM1119284 c.460C>T p.R154C Substitution - Missense 23:22273451-22273451 + TCGA-D1-A16F-01 COSM1119281 c.280C>A p.P94T Substitution - Missense 23:22273271-22273271 + PDA_045 COSM4589382 c.929G>A p.R310H Substitution - Missense 23:22273920-22273920 + TCGA-BH-A0HA-01 COSM457255 c.1036C>T p.Q346* Substitution - Nonsense 23:22274027-22274027 + 2492708 COSM4744545 c.266G>A p.G89E Substitution - Missense 23:22273257-22273257 + TCGA-66-2763-01 COSM756518 c.296C>A p.P99H Substitution - Missense 23:22273287-22273287 + TCGA-22-4604-01 COSM756514 c.1268G>C p.R423T Substitution - Missense 23:22274259-22274259 + PT48 COSM5934204 c.215C>T p.P72L Substitution - Missense 23:22273206-22273206 + 3206A7_009_T COSM5040851 c.12G>C p.M4I Substitution - Missense 23:22273003-22273003 + S02248 COSM5679921 c.572C>A p.P191Q Substitution - Missense 23:22273563-22273563 + ATL019 COSM4108649 c.410G>A p.R137H Substitution - Missense 23:22273401-22273401 + T207 COSM4744544 c.264C>T p.V88V Substitution - coding silent 23:22273255-22273255 + 8058339 COSM3390567 c.1093T>G p.L365V Substitution - Missense 23:22274084-22274084 + S01366 COSM316878 c.254A>G p.Y85C Substitution - Missense 23:22273245-22273245 + SW620 COSM1682449 c.354G>T p.Q118H Substitution - Missense 23:22273345-22273345 + TCGA-AR-A2LK-01 COSM3844340 c.692T>A p.F231Y Substitution - Missense 23:22273683-22273683 + CHC1753T COSM4952525 c.437C>A p.T146N Substitution - Missense 23:22273428-22273428 + AOCS-137-3-7 COSM4137823 c.762A>G p.P254P Substitution - coding silent 23:22273753-22273753 + TCGA-FW-A3R5-06 COSM3913768 c.1178G>A p.W393* Substitution - Nonsense 23:22274169-22274169 + CHEWS002 COSM4589382 c.929G>A p.R310H Substitution - Missense 23:22273920-22273920 + TCGA-CU-A3KJ-01 COSM1315422 c.788G>A p.C263Y Substitution - Missense 23:22273779-22273779 + ICC004T COSM5817438 c.787T>A p.C263S Substitution - Missense 23:22273778-22273778 + TCGA-BR-7197-01 COSM3036721 c.1206G>A p.T402T Substitution - coding silent 23:22274197-22274197 + S02244 COSM5701992 c.19_20GG>TT p.G7F Substitution - Missense 23:22273010-22273011 + PT32 COSM5907810 c.676G>A p.E226K Substitution - Missense 23:22273667-22273667 + TCGA-A8-A0A6-01 COSM3844341 c.852A>C p.P284P Substitution - coding silent 23:22273843-22273843 + HT115 COSM3036717 c.1083C>T p.N361N Substitution - coding silent 23:22274074-22274074 + OV207 COSM252939 c.764C>T p.T255I Substitution - Missense 23:22273755-22273755 + PD11402a COSM1119279 c.265G>A p.G89R Substitution - Missense 23:22273256-22273256 + HCC125T COSM1625787 c.1258A>T p.R420* Substitution - Nonsense 23:22274249-22274249 + I2L-P19Ta-Tumor-Biopsy COSM5367008 c.294T>C p.Y98Y Substitution - coding silent 23:22273285-22273285 + QC2-30-T2 COSM5653756 c.1107C>A p.T369T Substitution - coding silent 23:22274098-22274098 + TCGA-AX-A0J1-01 COSM1119279 c.265G>A p.G89R Substitution - Missense 23:22273256-22273256 + PD7218a COSM3560426 c.928C>T p.R310C Substitution - Missense 23:22273919-22273919 + T3090 COSM4744547 c.695C>T p.T232M Substitution - Missense 23:22273686-22273686 + S02256 COSM5681383 c.20G>T p.G7V Substitution - Missense 23:22273011-22273011 + TCGA-BS-A0UF-01 COSM1119278 c.194A>C p.K65T Substitution - Missense 23:22273185-22273185 + TCGA-AA-A00O-01 COSM298953 c.953C>T p.T318M Substitution - Missense 23:22273944-22273944 + TCGA-CC-A7II-01 COSM4937511 c.113G>T p.W38L Substitution - Missense 23:22273104-22273104 + TCGA-BR-6852-01 COSM4108647 c.125A>G p.K42R Substitution - Missense 23:22273116-22273116 + 2492709 COSM4744545 c.266G>A p.G89E Substitution - Missense 23:22273257-22273257 + TCGA-EE-A29M-06 COSM3560428 c.1108G>A p.E370K Substitution - Missense 23:22274099-22274099 + LUAD-RT-S01774 COSM381690 c.407G>A p.R136H Substitution - Missense 23:22273398-22273398 + ME009T COSM224114 c.214C>T p.P72S Substitution - Missense 23:22273205-22273205 + 40M COSM3913768 c.1178G>A p.W393* Substitution - Nonsense 23:22274169-22274169 + TCGA-BR-8289-01 COSM4108651 c.1224A>C p.S408S Substitution - coding silent 23:22274215-22274215 + LUAD-B00416 COSM355490 c.171T>A p.C57* Substitution - Nonsense 23:22273162-22273162 + TCGA-EB-A3Y7-01 COSM3560421 c.769C>T p.P257S Substitution - Missense 23:22273760-22273760 + EGC28 COSM5064628 c.1064T>A p.F355Y Substitution - Missense 23:22274055-22274055 + LUAD-NYU259 COSM372061 c.611C>A p.P204Q Substitution - Missense 23:22273602-22273602 + TCGA-AP-A059-01 COSM1119284 c.460C>T p.R154C Substitution - Missense 23:22273451-22273451 + S02397 COSM5699515 c.934C>A p.Q312K Substitution - Missense 23:22273925-22273925 + TCGA-FU-A3HZ-01 COSM4840922 c.323G>A p.R108Q Substitution - Missense 23:22273314-22273314 + 116 COSM1741477 c.889C>G p.P297A Substitution - Missense 23:22273880-22273880 + ESO-717 COSM1243039 c.318T>C p.H106H Substitution - coding silent 23:22273309-22273309 + T578 COSM4744545 c.266G>A p.G89E Substitution - Missense 23:22273257-22273257 + TCGA-DY-A1DC-01 COSM1570246 c.1183C>T p.R395* Substitution - Nonsense 23:22274174-22274174 + LB647-SCLC COSM25565 c.188C>A p.P63H Substitution - Missense 23:22273179-22273179 + TCGA-EE-A29D-06 COSM3560424 c.813C>T p.S271S Substitution - coding silent 23:22273804-22273804 + TCGA-BG-A18A-01 COSM1119280 c.268T>A p.Y90N Substitution - Missense 23:22273259-22273259 + TCGA-B5-A0JY-01 COSM169377 c.849G>A p.A283A Substitution - coding silent 23:22273840-22273840 + TCGA-DG-A2KM-01 COSM4851675 c.541C>G p.P181A Substitution - Missense 23:22273532-22273532 + SW620 COSM1682449 c.354G>T p.Q118H Substitution - Missense 23:22273345-22273345 + sysucc-783T COSM298953 c.953C>T p.T318M Substitution - Missense 23:22273944-22273944 + SNUH_G76_S1 COSM3759451 c.624C>T p.I208I Substitution - coding silent 23:22273615-22273615 + LUAD-B02594 COSM356530 c.748G>T p.G250C Substitution - Missense 23:22273739-22273739 + SNUH_G76_S1 COSM3759450 c.498C>A p.D166E Substitution - Missense 23:22273489-22273489 + Pa43X COSM85203 c.1089C>T p.N363N Substitution - coding silent 23:22274080-22274080 + TCGA-61-1913-01 COSM1331936 c.206G>C p.R69P Substitution - Missense 23:22273197-22273197 + TCGA-DS-A0VK-01 COSM462257 c.476C>T p.P159L Substitution - Missense 23:22273467-22273467 + TCGA-BR-A4QL-01 COSM4108649 c.410G>A p.R137H Substitution - Missense 23:22273401-22273401 + YUSPO COSM5412455 c.36A>T p.E12D Substitution - Missense 23:22273027-22273027 + TCGA-C4-A0F7-01 COSM169377 c.849G>A p.A283A Substitution - coding silent 23:22273840-22273840 + C008 COSM5524275 c.640G>A p.E214K Substitution - Missense 23:22273631-22273631 + TCGA-D1-A17H-01 COSM1119286 c.902A>G p.Q301R Substitution - Missense 23:22273893-22273893 + TCGA-G5-6235-01 COSM1570247 c.416A>T p.K139M Substitution - Missense 23:22273407-22273407 + B89-4-Tumor COSM1756507 c.666C>A p.P222P Substitution - coding silent 23:22273657-22273657 + OV207 COSM252938 c.623T>A p.I208N Substitution - Missense 23:22273614-22273614 + pfg092T COSM4751149 c.505A>T p.K169* Substitution - Nonsense 23:22273496-22273496 + TCGA-BS-A0TC-01 COSM1119283 c.406C>T p.R136C Substitution - Missense 23:22273397-22273397 + ESCC_BICR_047T COSM5430493 c.791A>G p.Q264R Substitution - Missense 23:22273782-22273782 + TCGA-66-2785-01 COSM756515 c.1205C>A p.T402K Substitution - Missense 23:22274196-22274196 + TCGA-AM-5820-01 COSM3759450 c.498C>A p.D166E Substitution - Missense 23:22273489-22273489 + TCGA-CM-6674-01 COSM1467247 c.516A>C p.Q172H Substitution - Missense 23:22273507-22273507 + NB-0433 COSM1289180 c.1030C>A p.Q344K Substitution - Missense 23:22274021-22274021 + YUPROST COSM1714743 c.1016C>T p.P339L Substitution - Missense 23:22274007-22274007 + C086 COSM5542359 c.961G>A p.D321N Substitution - Missense 23:22273952-22273952 + PD7250a COSM5775294 c.534C>T p.S178S Substitution - coding silent 23:22273525-22273525 + T2269 COSM3424688 c.289C>T p.R97C Substitution - Missense 23:22273280-22273280 + 2334199 COSM324532 c.310G>A p.E104K Substitution - Missense 23:22273301-22273301 + pfg181T COSM4751150 c.1130C>A p.P377H Substitution - Missense 23:22274121-22274121 + TCGA-AX-A0J1-01 COSM462257 c.476C>T p.P159L Substitution - Missense 23:22273467-22273467 + RK119_C01 COSM3747415 c.868T>C p.S290P Substitution - Missense 23:22273859-22273859 + HCC125 COSM1625787 c.1258A>T p.R420* Substitution - Nonsense 23:22274249-22274249 + TCGA-B5-A11R-01 COSM1119287 c.1052C>T p.S351F Substitution - Missense 23:22274043-22274043 + AOCS-137-1-X COSM4137823 c.762A>G p.P254P Substitution - coding silent 23:22273753-22273753 + LUAD-NYU1219 COSM370320 c.1022G>T p.R341L Substitution - Missense 23:22274013-22274013 + CSB12 COSM5028859 c.314C>T p.A105V Substitution - Missense 23:22273305-22273305 + TCGA-D1-A0ZS-01 COSM1119284 c.460C>T p.R154C Substitution - Missense 23:22273451-22273451 + 229 COSM4426357 c.1099C>T p.Q367* Substitution - Nonsense 23:22274090-22274090 + TCGA-AX-A0J0-01 COSM1119284 c.460C>T p.R154C Substitution - Missense 23:22273451-22273451 + TCGA-BR-6452-01 COSM4108650 c.477G>A p.P159P Substitution - coding silent 23:22273468-22273468 + ccRCC-78 COSM1665242 c.256G>A p.D86N Substitution - Missense 23:22273247-22273247 + TCGA-AA-3510-01 COSM1119284 c.460C>T p.R154C Substitution - Missense 23:22273451-22273451 + NPC13F COSM3560426 c.928C>T p.R310C Substitution - Missense 23:22273919-22273919 + J30_T COSM3965054 c.940C>A p.P314T Substitution - Missense 23:22273931-22273931 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.132485 Xp22.11

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.K42R c.125A>G X 22291233 STAD A G Missense p.R140G c.418A>G X 22291526 COREAD A G Missense p.Y85C c.254A>G X 22291362 SCLC A T Missense p.I328F c.982A>T X 22292090 GBM C A Missense p.L177I c.529C>A X 22291637 LUAD C A Missense p.P256H c.767C>A X 22291875 UCEC C A Missense p.P94T c.280C>A X 22291388 UCEC C A Missense p.P99H c.296C>A X 22291404 LUSC C A Missense p.Q344K c.1030C>A X 22292138 NB C A Missense p.S147R c.441C>A X 22291549 LUSC C T Missense p.A105V c.314C>T X 22291422 BRCA C T Missense p.P261S c.781C>T X 22291889 CM C T Missense p.P300L c.899C>T X 22292007 MB C T Missense p.P72S c.214C>T X 22291322 CM C T Missense p.R136C c.406C>T X 22291514 BLCA C T Missense p.R136C c.406C>T X 22291514 UCEC C T Missense p.R154C c.460C>T X 22291568 CM C T Missense p.R154C c.460C>T X 22291568 UCEC C T Missense p.R341C c.1021C>T X 22292129 LUSC C T Missense p.S351F c.1052C>T X 22292160 UCEC C T Missense p.T318M c.953C>T X 22292061 COREAD C T Nonsense p.Q266* c.796C>T X 22291904 CM C T Synonymous p.N363N c.1089C>T X 22292197 PAAD C T Synonymous p.Y320Y c.960C>T X 22292068 COREAD G A 3-UTRSNV . c.1275+5G>A X 22292388 CM G A Missense p.C263Y c.788G>A X 22291896 BLCA G A Missense p.E104K c.310G>A X 22291418 SCLC G A Missense p.E370K c.1108G>A X 22292216 CM G A Missense p.G89R c.265G>A X 22291373 ESCA G A Missense p.R37H c.110G>A X 22291218 STAD G A Synonymous p.A283A c.849G>A X 22291957 BLCA G C Missense p.R423T c.1268G>C X 22292376 LUSC G T Missense p.R403L c.1208G>T X 22292316 COREAD G T Missense p.V153F c.457G>T X 22291565 STAD T A Missense p.Y90N c.268T>A X 22291376 UCEC T A Synonymous p.S351S c.1053T>A X 22292161 LUAD T - Frameshift p.C81Vfs*21 c.241delT X 22291349 LUSC