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 4 95129666 95129666 + Missense_Mutation SNP G G A TCGA-DK-A1AF-01A-11D-A13W-08 TCGA-DK-A1AF-10A-01D-A13W-08 g.chr4:95129666G>A c.121G>A c.(121-123)Gaa>Aaa p.E41K BLCA 4 95147413 95147413 + Missense_Mutation SNP G G C TCGA-DK-AA74-01A-11D-A391-08 TCGA-DK-AA74-10A-01D-A394-08 g.chr4:95147413G>C c.334G>C c.(334-336)Gag>Cag p.E112Q BLCA 4 95155124 95155124 + Missense_Mutation SNP G G C TCGA-BT-A20J-01A-11D-A14W-08 TCGA-BT-A20J-11A-11D-A14W-08 g.chr4:95155124G>C c.388G>C c.(388-390)Gaa>Caa p.E130Q BLCA 4 95170811 95170811 + Nonsense_Mutation SNP G G T TCGA-K4-A3WU-01B-11D-A23M-08 TCGA-K4-A3WU-10A-01D-A23K-08 g.chr4:95170811G>T c.712G>T c.(712-714)Gaa>Taa p.E238* BLCA 4 95173958 95173958 + Missense_Mutation SNP G G C TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr4:95173958G>C c.1081G>C c.(1081-1083)Gat>Cat p.D361H BLCA 4 95174132 95174132 + Missense_Mutation SNP C C T TCGA-E7-A677-01A-11D-A30E-08 TCGA-E7-A677-10A-01D-A30H-08 g.chr4:95174132C>T c.1255C>T c.(1255-1257)Cgg>Tgg p.R419W BLCA 4 95185910 95185910 + Missense_Mutation SNP G G A TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr4:95185910G>A c.1334G>A c.(1333-1335)tGt>tAt p.C445Y BLCA 4 95185963 95185963 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr4:95185963G>A c.1387G>A c.(1387-1389)Gaa>Aaa p.E463K BLCA 4 95191898 95191898 + Missense_Mutation SNP C C G TCGA-FD-A6TA-01A-12D-A339-08 TCGA-FD-A6TA-10A-21D-A339-08 g.chr4:95191898C>G c.1501C>G c.(1501-1503)Cag>Gag p.Q501E BLCA 4 95197489 95197489 + Splice_Site SNP G G C TCGA-XF-A9T4-01A-11D-A391-08 TCGA-XF-A9T4-10A-01D-A394-08 g.chr4:95197489G>C c.e15-1 BLCA 4 95200108 95200108 + Missense_Mutation SNP G G C TCGA-XF-A9SL-01A-11D-A391-08 TCGA-XF-A9SL-10A-01D-A394-08 g.chr4:95200108G>C c.2325G>C c.(2323-2325)atG>atC p.M775I BLCA 4 95201922 95201922 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr4:95201922G>A c.2598G>A c.(2596-2598)ttG>ttA p.L866L BRCA 4 95162063 95162063 + Missense_Mutation SNP G G C TCGA-BH-A1FC-01A-11D-A13L-09 TCGA-BH-A1FC-11A-32D-A188-09 g.chr4:95162063G>C c.611G>C c.(610-612)gGg>gCg p.G204A BRCA 4 95173838 95173838 + Frame_Shift_Del DEL A A - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr4:95173838delA c.961delA c.(961-963)aaafs p.K321fs BRCA 4 95173909 95173910 + Frame_Shift_Ins INS - - A TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr4:95173909_95173910insA c.1032_1033insA c.(1033-1035)aaafs p.K345fs BRCA 4 95173942 95173942 + Silent SNP T T G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr4:95173942T>G c.1065T>G c.(1063-1065)gtT>gtG p.V355V BRCA 4 95206186 95206186 + Silent SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr4:95206186G>A c.2985G>A c.(2983-2985)ttG>ttA p.L995L CESC 4 95129564 95129564 + Missense_Mutation SNP G G T TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 g.chr4:95129564G>T c.19G>T c.(19-21)Gac>Tac p.D7Y CESC 4 95147284 95147284 + Missense_Mutation SNP C C G TCGA-DS-A1OA-01A-11D-A16Y-08 TCGA-DS-A1OA-10A-01D-A16Y-08 g.chr4:95147284C>G c.205C>G c.(205-207)Cca>Gca p.P69A CESC 4 95155109 95155109 + Missense_Mutation SNP G G A TCGA-C5-A1M5-01A-11D-A13W-08 TCGA-C5-A1M5-10A-01D-A13W-08 g.chr4:95155109G>A c.373G>A c.(373-375)Gag>Aag p.E125K CESC 4 95174009 95174009 + Missense_Mutation SNP G G A TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr4:95174009G>A c.1132G>A c.(1132-1134)Gaa>Aaa p.E378K CESC 4 95199770 95199770 + Missense_Mutation SNP C C G TCGA-C5-A2LX-01A-11D-A18J-09 TCGA-C5-A2LX-10A-01D-A18J-09 g.chr4:95199770C>G c.2182C>G c.(2182-2184)Ctc>Gtc p.L728V COAD 4 95129573 95129573 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:95129573C>T c.28C>T c.(28-30)Cgc>Tgc p.R10C COAD 4 95129606 95129606 + Missense_Mutation SNP C C G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:95129606C>G c.61C>G c.(61-63)Ccc>Gcc p.P21A COAD 4 95129609 95129609 + Missense_Mutation SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr4:95129609G>A c.64G>A c.(64-66)Gaa>Aaa p.E22K COAD 4 95129610 95129610 + Missense_Mutation SNP A A G TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr4:95129610A>G c.65A>G c.(64-66)gAa>gGa p.E22G COAD 4 95155158 95155158 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:95155158G>T c.422G>T c.(421-423)aGa>aTa p.R141I COAD 4 95155253 95155253 + Missense_Mutation SNP A A G TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr4:95155253A>G c.517A>G c.(517-519)Agt>Ggt p.S173G COAD 4 95155255 95155255 + Silent SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr4:95155255T>C c.519T>C c.(517-519)agT>agC p.S173S COAD 4 95173779 95173779 + Missense_Mutation SNP T T C TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr4:95173779T>C c.902T>C c.(901-903)gTa>gCa p.V301A COAD 4 95173841 95173841 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:95173841A>C c.964A>C c.(964-966)Aat>Cat p.N322H COAD 4 95173907 95173907 + Missense_Mutation SNP C C T TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr4:95173907C>T c.1030C>T c.(1030-1032)Cgt>Tgt p.R344C COAD 4 95173923 95173923 + Missense_Mutation SNP T T C TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr4:95173923T>C c.1046T>C c.(1045-1047)tTt>tCt p.F349S COAD 4 95174040 95174040 + Missense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr4:95174040A>C c.1163A>C c.(1162-1164)aAa>aCa p.K388T COAD 4 95198174 95198174 + Splice_Site SNP C C A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr4:95198174C>A c.1946C>A c.(1945-1947)gCa>gAa p.A649E COAD 4 95198281 95198281 + Missense_Mutation SNP G G C TCGA-AA-A00U-01A-01W-A005-10 TCGA-AA-A00U-10A-01W-A005-10 g.chr4:95198281G>C c.2053G>C c.(2053-2055)Gaa>Caa p.E685Q COAD 4 95199643 95199643 + Missense_Mutation SNP T T C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr4:95199643T>C c.2153T>C c.(2152-2154)tTt>tCt p.F718S COAD 4 95199663 95199663 + Nonsense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr4:95199663G>T c.2173G>T c.(2173-2175)Gaa>Taa p.E725* COAD 4 95199765 95199765 + Splice_Site SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr4:95199765A>G c.e18-1 COAD 4 95199848 95199848 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:95199848C>A c.2260C>A c.(2260-2262)Ctt>Att p.L754I COAD 4 95199873 95199873 + Missense_Mutation SNP T T A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr4:95199873T>A c.2285T>A c.(2284-2286)aTc>aAc p.I762N COAD 4 95200080 95200080 + Splice_Site DEL A A - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr4:95200080delA c.2297delA c.(2296-2298)gaa>ga p.E766fs COAD 4 95200149 95200149 + Missense_Mutation SNP G G T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr4:95200149G>T c.2366G>T c.(2365-2367)cGc>cTc p.R789L COAD 4 95201761 95201761 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr4:95201761G>A c.2437G>A c.(2437-2439)Gct>Act p.A813T COAD 4 95202678 95202678 + Missense_Mutation SNP T T C TCGA-F4-6569-01A-11D-1771-10 TCGA-F4-6569-10A-01D-1771-10 g.chr4:95202678T>C c.2663T>C c.(2662-2664)gTt>gCt p.V888A COAD 4 95202679 95202679 + Silent SNP T T C TCGA-DM-A28K-01A-21D-A16V-10 TCGA-DM-A28K-10A-01D-A16V-10 g.chr4:95202679T>C c.2664T>C c.(2662-2664)gtT>gtC p.V888V COADREAD 4 95129573 95129573 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr4:95129573C>T c.28C>T c.(28-30)Cgc>Tgc p.R10C COADREAD 4 95129606 95129606 + Missense_Mutation SNP C C G TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr4:95129606C>G c.61C>G c.(61-63)Ccc>Gcc p.P21A COADREAD 4 95129609 95129609 + Missense_Mutation SNP G G A TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr4:95129609G>A c.64G>A c.(64-66)Gaa>Aaa p.E22K COADREAD 4 95129610 95129610 + Missense_Mutation SNP A A G TCGA-AZ-6606-01A-11D-1835-10 TCGA-AZ-6606-11A-01D-1835-10 g.chr4:95129610A>G c.65A>G c.(64-66)gAa>gGa p.E22G COADREAD 4 95155158 95155158 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:95155158G>T c.422G>T c.(421-423)aGa>aTa p.R141I COADREAD 4 95155253 95155253 + Missense_Mutation SNP A A G TCGA-G4-6321-01A-11D-1719-10 TCGA-G4-6321-10A-01D-1720-10 g.chr4:95155253A>G c.517A>G c.(517-519)Agt>Ggt p.S173G COADREAD 4 95155255 95155255 + Silent SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr4:95155255T>C c.519T>C c.(517-519)agT>agC p.S173S COADREAD 4 95173779 95173779 + Missense_Mutation SNP T T C TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr4:95173779T>C c.902T>C c.(901-903)gTa>gCa p.V301A COADREAD 4 95173841 95173841 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr4:95173841A>C c.964A>C c.(964-966)Aat>Cat p.N322H COADREAD 4 95173907 95173907 + Missense_Mutation SNP C C T TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr4:95173907C>T c.1030C>T c.(1030-1032)Cgt>Tgt p.R344C COADREAD 4 95173923 95173923 + Missense_Mutation SNP T T C TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr4:95173923T>C c.1046T>C c.(1045-1047)tTt>tCt p.F349S COADREAD 4 95174040 95174040 + Missense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr4:95174040A>C c.1163A>C c.(1162-1164)aAa>aCa p.K388T COADREAD 4 95198174 95198174 + Splice_Site SNP C C A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr4:95198174C>A c.1946C>A c.(1945-1947)gCa>gAa p.A649E COADREAD 4 95198281 95198281 + Missense_Mutation SNP G G C TCGA-AA-A00U-01A-01W-A005-10 TCGA-AA-A00U-10A-01W-A005-10 g.chr4:95198281G>C c.2053G>C c.(2053-2055)Gaa>Caa p.E685Q COADREAD 4 95199643 95199643 + Missense_Mutation SNP T T C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr4:95199643T>C c.2153T>C c.(2152-2154)tTt>tCt p.F718S COADREAD 4 95199663 95199663 + Nonsense_Mutation SNP G G T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr4:95199663G>T c.2173G>T c.(2173-2175)Gaa>Taa p.E725* COADREAD 4 95199765 95199765 + Splice_Site SNP A A G TCGA-AA-3815-01A-01W-0995-10 TCGA-AA-3815-10A-01W-0995-10 g.chr4:95199765A>G c.e18-1 COADREAD 4 95199798 95199798 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr4:95199798G>A c.2210G>A c.(2209-2211)cGa>cAa p.R737Q COADREAD 4 95199848 95199848 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:95199848C>A c.2260C>A c.(2260-2262)Ctt>Att p.L754I COADREAD 4 95199873 95199873 + Missense_Mutation SNP T T A TCGA-AA-A01P-01A-21W-A096-10 TCGA-AA-A01P-11A-11W-A096-10 g.chr4:95199873T>A c.2285T>A c.(2284-2286)aTc>aAc p.I762N COADREAD 4 95200080 95200080 + Splice_Site DEL A A - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr4:95200080delA c.2297delA c.(2296-2298)gaa>ga p.E766fs COADREAD 4 95200149 95200149 + Missense_Mutation SNP G G T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr4:95200149G>T c.2366G>T c.(2365-2367)cGc>cTc p.R789L COADREAD 4 95201761 95201761 + Missense_Mutation SNP G G A TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr4:95201761G>A c.2437G>A c.(2437-2439)Gct>Act p.A813T COADREAD 4 95202678 95202678 + Missense_Mutation SNP T T C TCGA-F4-6569-01A-11D-1771-10 TCGA-F4-6569-10A-01D-1771-10 g.chr4:95202678T>C c.2663T>C c.(2662-2664)gTt>gCt p.V888A COADREAD 4 95202679 95202679 + Silent SNP T T C TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr4:95202679T>C c.2664T>C c.(2662-2664)gtT>gtC p.V888V COADREAD 4 95202679 95202679 + Silent SNP T T C TCGA-DM-A28K-01A-21D-A16V-10 TCGA-DM-A28K-10A-01D-A16V-10 g.chr4:95202679T>C c.2664T>C c.(2662-2664)gtT>gtC p.V888V COADREAD 4 95204387 95204387 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:95204387G>T c.2842G>T c.(2842-2844)Gat>Tat p.D948Y COADREAD 4 95206150 95206150 + Silent SNP T T A TCGA-AG-3893-01A-01W-1073-09 TCGA-AG-3893-10A-01W-1073-09 g.chr4:95206150T>A c.2949T>A c.(2947-2949)atT>atA p.I983I ESCA 4 95199585 95199585 + Missense_Mutation SNP G G C TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 g.chr4:95199585G>C c.2095G>C c.(2095-2097)Gag>Cag p.E699Q ESCA 4 95200104 95200104 + Missense_Mutation SNP T T C TCGA-2H-A9GR-01A-12D-A37C-09 TCGA-2H-A9GR-11A-11D-A37F-09 g.chr4:95200104T>C c.2321T>C c.(2320-2322)gTc>gCc p.V774A GBMLGG 4 95147295 95147295 + Silent SNP A A G TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 g.chr4:95147295A>G c.216A>G c.(214-216)ccA>ccG p.P72P GBMLGG 4 95147396 95147396 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:95147396G>A c.317G>A c.(316-318)tGc>tAc p.C106Y GBMLGG 4 95173878 95173878 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:95173878T>C c.1001T>C c.(1000-1002)aTg>aCg p.M334T GBMLGG 4 95185933 95185933 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:95185933G>A c.1357G>A c.(1357-1359)Gat>Aat p.D453N GBMLGG 4 95210632 95210632 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:95210632G>T c.3028G>T c.(3028-3030)Ggg>Tgg p.G1010W HNSC 4 95155227 95155227 + Missense_Mutation SNP C C T TCGA-CV-5443-01A-01D-1512-08 TCGA-CV-5443-11A-01D-1512-08 g.chr4:95155227C>T c.491C>T c.(490-492)aCt>aTt p.T164I HNSC 4 95155231 95155231 + Missense_Mutation SNP G G C TCGA-CR-5248-01A-01D-2012-08 TCGA-CR-5248-10A-01D-2013-08 g.chr4:95155231G>C c.495G>C c.(493-495)ttG>ttC p.L165F HNSC 4 95174149 95174149 + Missense_Mutation SNP G G C TCGA-D6-A6EO-01A-11D-A31L-08 TCGA-D6-A6EO-10A-01D-A31J-08 g.chr4:95174149G>C c.1272G>C c.(1270-1272)tgG>tgC p.W424C HNSC 4 95197554 95197554 + Missense_Mutation SNP G G C TCGA-CN-4739-01A-02D-1512-08 TCGA-CN-4739-10A-01D-1512-08 g.chr4:95197554G>C c.1873G>C c.(1873-1875)Gca>Cca p.A625P HNSC 4 95200121 95200121 + Frame_Shift_Del DEL A A - TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 g.chr4:95200121delA c.2338delA c.(2338-2340)aaafs p.K780fs HNSC 4 95206114 95206114 + Missense_Mutation SNP A A T TCGA-D6-8568-01A-11D-2394-08 TCGA-D6-8568-10A-01D-2394-08 g.chr4:95206114A>T c.2913A>T c.(2911-2913)gaA>gaT p.E971D KIPAN 4 95191935 95191935 + Missense_Mutation SNP A A G TCGA-BQ-7044-01A-11D-1961-08 TCGA-BQ-7044-11A-01D-1961-08 g.chr4:95191935A>G c.1538A>G c.(1537-1539)aAa>aGa p.K513R KIPAN 4 95199614 95199614 + Missense_Mutation SNP A A G TCGA-B2-4098-01A-02D-1386-10 TCGA-B2-4098-11A-01D-1251-10 g.chr4:95199614A>G c.2124A>G c.(2122-2124)atA>atG p.I708M KIRC 4 95199614 95199614 + Missense_Mutation SNP A A G TCGA-B2-4098-01A-02D-1386-10 TCGA-B2-4098-11A-01D-1251-10 g.chr4:95199614A>G c.2124A>G c.(2122-2124)atA>atG p.I708M KIRP 4 95191935 95191935 + Missense_Mutation SNP A A G TCGA-BQ-7044-01A-11D-1961-08 TCGA-BQ-7044-11A-01D-1961-08 g.chr4:95191935A>G c.1538A>G c.(1537-1539)aAa>aGa p.K513R LGG 4 95147295 95147295 + Silent SNP A A G TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 g.chr4:95147295A>G c.216A>G c.(214-216)ccA>ccG p.P72P LGG 4 95147396 95147396 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:95147396G>A c.317G>A c.(316-318)tGc>tAc p.C106Y LGG 4 95173878 95173878 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:95173878T>C c.1001T>C c.(1000-1002)aTg>aCg p.M334T LGG 4 95185933 95185933 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:95185933G>A c.1357G>A c.(1357-1359)Gat>Aat p.D453N LGG 4 95210632 95210632 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:95210632G>T c.3028G>T c.(3028-3030)Ggg>Tgg p.G1010W LIHC 4 95129594 95129594 + Missense_Mutation SNP A A G TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr4:95129594A>G c.49A>G c.(49-51)Att>Gtt p.I17V LIHC 4 95162076 95162076 + Frame_Shift_Del DEL A A - TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr4:95162076delA c.624delA c.(622-624)agafs p.R208fs LIHC 4 95197544 95197544 + Silent SNP A A G TCGA-G3-A3CG-01A-11D-A20W-10 TCGA-G3-A3CG-10A-01D-A20W-10 g.chr4:95197544A>G c.1863A>G c.(1861-1863)aaA>aaG p.K621K LIHC 4 95198291 95198291 + Missense_Mutation SNP G G T TCGA-EP-A3JL-01A-11D-A20W-10 TCGA-EP-A3JL-10A-01D-A20W-10 g.chr4:95198291G>T c.2063G>T c.(2062-2064)aGa>aTa p.R688I LUAD 4 95129564 95129564 + Missense_Mutation SNP G G T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr4:95129564G>T c.19G>T c.(19-21)Gac>Tac p.D7Y LUAD 4 95155122 95155122 + Missense_Mutation SNP A A T TCGA-55-8205-01A-11D-2238-08 TCGA-55-8205-10A-01D-2238-08 g.chr4:95155122A>T c.386A>T c.(385-387)gAt>gTt p.D129V LUAD 4 95158105 95158105 + Missense_Mutation SNP G G C TCGA-69-7978-01A-11D-2184-08 TCGA-69-7978-10A-01D-2184-08 g.chr4:95158105G>C c.540G>C c.(538-540)ttG>ttC p.L180F LUAD 4 95162122 95162122 + Missense_Mutation SNP G G C TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr4:95162122G>C c.670G>C c.(670-672)Gat>Cat p.D224H LUAD 4 95162158 95162158 + Splice_Site SNP G G T TCGA-05-5423-01A-01D-1625-08 TCGA-05-5423-10A-01D-1625-08 g.chr4:95162158G>T c.e6+1 LUAD 4 95171962 95171962 + Silent SNP A A G TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr4:95171962A>G c.867A>G c.(865-867)ctA>ctG p.L289L LUAD 4 95194771 95194771 + Missense_Mutation SNP C C G TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr4:95194771C>G c.1576C>G c.(1576-1578)Cta>Gta p.L526V LUAD 4 95195932 95195932 + Missense_Mutation SNP G G T TCGA-05-4424-01A-22D-1855-08 TCGA-05-4424-10A-01D-1855-08 g.chr4:95195932G>T c.1716G>T c.(1714-1716)aaG>aaT p.K572N LUAD 4 95198209 95198209 + Nonsense_Mutation SNP C C T TCGA-55-A490-01A-11D-A24D-08 TCGA-55-A490-10A-01D-A24F-08 g.chr4:95198209C>T c.1981C>T c.(1981-1983)Cag>Tag p.Q661* LUAD 4 95198255 95198255 + Missense_Mutation SNP C C T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr4:95198255C>T c.2027C>T c.(2026-2028)cCa>cTa p.P676L LUAD 4 95200144 95200144 + Silent SNP A A G TCGA-75-7025-01A-12D-1945-08 TCGA-75-7025-10A-01D-1946-08 g.chr4:95200144A>G c.2361A>G c.(2359-2361)ttA>ttG p.L787L LUAD 4 95206110 95206110 + Splice_Site SNP G G C TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 g.chr4:95206110G>C c.e23-1 LUAD 4 95206137 95206137 + Missense_Mutation SNP G G T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr4:95206137G>T c.2936G>T c.(2935-2937)aGc>aTc p.S979I LUAD 4 95210624 95210624 + Splice_Site SNP G G T TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr4:95210624G>T c.3020G>T c.(3019-3021)gGt>gTt p.G1007V LUSC 4 95162117 95162117 + Missense_Mutation SNP T T A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 g.chr4:95162117T>A c.665T>A c.(664-666)tTt>tAt p.F222Y LUSC 4 95200089 95200089 + Missense_Mutation SNP C C G TCGA-18-5595-01A-01D-1632-08 TCGA-18-5595-11A-01D-1632-08 g.chr4:95200089C>G c.2306C>G c.(2305-2307)aCa>aGa p.T769R LUSC 4 95201832 95201832 + Missense_Mutation SNP G G T TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr4:95201832G>T c.2508G>T c.(2506-2508)caG>caT p.Q836H LUSC 4 95204388 95204388 + Missense_Mutation SNP A A T TCGA-37-3789-01A-01D-0983-08 TCGA-37-3789-10A-01D-0983-08 g.chr4:95204388A>T c.2843A>T c.(2842-2844)gAt>gTt p.D948V OV 4 95155254 95155254 + Missense_Mutation SNP G G A TCGA-13-0924-01A-01W-0421-09 TCGA-13-0924-10A-01W-0421-09 g.chr4:95155254G>A c.518G>A c.(517-519)aGt>aAt p.S173N PAAD 4 95174129 95174129 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:95174129C>T c.1252C>T c.(1252-1254)Ctc>Ttc p.L418F PAAD 4 95198287 95198287 + Nonsense_Mutation SNP C C T TCGA-Q3-AA2A-01A-11D-A377-08 TCGA-Q3-AA2A-10A-01D-A37A-08 g.chr4:95198287C>T c.2059C>T c.(2059-2061)Cga>Tga p.R687* PAAD 4 95204434 95204434 + Nonsense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr4:95204434C>A c.2889C>A c.(2887-2889)tgC>tgA p.C963* PRAD 4 95186038 95186038 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr4:95186038C>T c.1462C>T c.(1462-1464)Cct>Tct p.P488S PRAD 4 95200079 95200080 + Splice_Site INS - - A TCGA-ZG-A9KY-01A-11D-A41K-08 TCGA-ZG-A9KY-10A-01D-A41N-08 g.chr4:95200079_95200080insA c.e19-1 PRAD 4 95204449 95204449 + Missense_Mutation SNP G G T TCGA-J9-A8CK-01A-11D-A34U-08 TCGA-J9-A8CK-10A-01D-A34X-08 g.chr4:95204449G>T c.2904G>T c.(2902-2904)caG>caT p.Q968H READ 4 95199798 95199798 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr4:95199798G>A c.2210G>A c.(2209-2211)cGa>cAa p.R737Q READ 4 95202679 95202679 + Silent SNP T T C TCGA-DC-6682-01A-11D-1826-10 TCGA-DC-6682-10A-01D-1826-10 g.chr4:95202679T>C c.2664T>C c.(2662-2664)gtT>gtC p.V888V READ 4 95204387 95204387 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr4:95204387G>T c.2842G>T c.(2842-2844)Gat>Tat p.D948Y READ 4 95206150 95206150 + Silent SNP T T A TCGA-AG-3893-01A-01W-1073-09 TCGA-AG-3893-10A-01W-1073-09 g.chr4:95206150T>A c.2949T>A c.(2947-2949)atT>atA p.I983I SARC 4 95194791 95194791 + Silent SNP C C T TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr4:95194791C>T c.1596C>T c.(1594-1596)gcC>gcT p.A532A SKCM 4 95147328 95147328 + Silent SNP C C T TCGA-EE-A2A0-06A-11D-A196-08 TCGA-EE-A2A0-10A-01D-A198-08 g.chr4:95147328C>T c.249C>T c.(247-249)ttC>ttT p.F83F SKCM 4 95147382 95147382 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:95147382C>T c.303C>T c.(301-303)gtC>gtT p.V101V SKCM 4 95147387 95147387 + Missense_Mutation SNP C C T TCGA-D3-A5GS-06A-11D-A27K-08 TCGA-D3-A5GS-10A-01D-A27N-08 g.chr4:95147387C>T c.308C>T c.(307-309)tCc>tTc p.S103F SKCM 4 95174054 95174054 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:95174054C>T c.1177C>T c.(1177-1179)Ctt>Ttt p.L393F SKCM 4 95194771 95194771 + Silent SNP C C T TCGA-FS-A4F0-06A-11D-A24R-08 TCGA-FS-A4F0-10A-01D-A24R-08 g.chr4:95194771C>T c.1576C>T c.(1576-1578)Cta>Tta p.L526L SKCM 4 95194801 95194801 + Silent SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr4:95194801C>T c.1606C>T c.(1606-1608)Ctg>Ttg p.L536L SKCM 4 95197527 95197527 + Silent SNP C C T TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr4:95197527C>T c.1846C>T c.(1846-1848)Ctg>Ttg p.L616L SKCM 4 95201808 95201808 + Silent SNP C C T TCGA-ER-A19F-06A-11D-A196-08 TCGA-ER-A19F-10A-01D-A198-08 g.chr4:95201808C>T c.2484C>T c.(2482-2484)ttC>ttT p.F828F SKCM 4 95201837 95201837 + Missense_Mutation SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr4:95201837G>A c.2513G>A c.(2512-2514)cGa>cAa p.R838Q SKCM 4 95204435 95204435 + Missense_Mutation SNP C C T TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr4:95204435C>T c.2890C>T c.(2890-2892)Cat>Tat p.H964Y

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 4 95171910 95171910 single base substitution G C 3_prime_UTR_variant BLCA-CN 4 95171910 95171910 single base substitution G C missense_variant R272T 815G>C BLCA-CN 4 95171910 95171910 single base substitution G C upstream_gene_variant BLCA-CN 4 95173860 95173860 single base substitution T G 3_prime_UTR_variant BLCA-CN 4 95173860 95173860 single base substitution T G missense_variant L328R 983T>G BLCA-CN 4 95173860 95173860 single base substitution T G upstream_gene_variant BLCA-CN 4 95196044 95196044 single base substitution C T 3_prime_UTR_variant BLCA-CN 4 95196044 95196044 single base substitution C T downstream_gene_variant BLCA-CN 4 95196044 95196044 single base substitution C T exon_variant BLCA-CN 4 95196044 95196044 single base substitution C T missense_variant S149F 446C>T BLCA-CN 4 95196044 95196044 single base substitution C T missense_variant S579F 1736C>T BLCA-US 4 95129666 95129666 single base substitution G A exon_variant BLCA-US 4 95129666 95129666 single base substitution G A missense_variant E41K 121G>A BLCA-US 4 95155124 95155124 single base substitution G C 3_prime_UTR_variant BLCA-US 4 95155124 95155124 single base substitution G C exon_variant BLCA-US 4 95155124 95155124 single base substitution G C missense_variant E130Q 388G>C BLCA-US 4 95170811 95170811 single base substitution G T 3_prime_UTR_variant BLCA-US 4 95170811 95170811 single base substitution G T stop_gained E238* 712G>T BLCA-US 4 95170811 95170811 single base substitution G T upstream_gene_variant BLCA-US 4 95185963 95185963 single base substitution G A 3_prime_UTR_variant BLCA-US 4 95185963 95185963 single base substitution G A exon_variant BLCA-US 4 95185963 95185963 single base substitution G A missense_variant E33K 97G>A BLCA-US 4 95185963 95185963 single base substitution G A missense_variant E463K 1387G>A BLCA-US 4 95201922 95201922 single base substitution G A 3_prime_UTR_variant BLCA-US 4 95201922 95201922 single base substitution G A downstream_gene_variant BLCA-US 4 95201922 95201922 single base substitution G A synonymous_variant L436L 1308G>A BLCA-US 4 95201922 95201922 single base substitution G A synonymous_variant L866L 2598G>A BLCA-US 4 95201922 95201922 single base substitution G A synonymous_variant L868L 2604G>A BOCA-FR 4 95204618 95204618 single base substitution G A intron_variant BRCA-EU 4 95124055 95124055 single base substitution G C upstream_gene_variant BRCA-EU 4 95125550 95125550 single base substitution C T upstream_gene_variant BRCA-EU 4 95126140 95126140 single base substitution G C upstream_gene_variant BRCA-EU 4 95126197 95126197 single base substitution A G upstream_gene_variant BRCA-EU 4 95126427 95126427 single base substitution G A upstream_gene_variant BRCA-EU 4 95131268 95131268 single base substitution G T intron_variant BRCA-EU 4 95131563 95131563 single base substitution A G intron_variant BRCA-EU 4 95131794 95131794 single base substitution G A intron_variant BRCA-EU 4 95131824 95131824 single base substitution C T intron_variant BRCA-EU 4 95133656 95133656 single base substitution G C intron_variant BRCA-EU 4 95134352 95134352 single base substitution T C intron_variant BRCA-EU 4 95136667 95136667 single base substitution G A intron_variant BRCA-EU 4 95137275 95137275 single base substitution G A intron_variant BRCA-EU 4 95138586 95138586 single base substitution G C intron_variant BRCA-EU 4 95139023 95139023 single base substitution A G intron_variant BRCA-EU 4 95139069 95139069 single base substitution A C intron_variant BRCA-EU 4 95144048 95144048 single base substitution G C intron_variant BRCA-EU 4 95145295 95145295 single base substitution A G intron_variant BRCA-EU 4 95145799 95145799 single base substitution C T intron_variant BRCA-EU 4 95147223 95147223 single base substitution G A intron_variant BRCA-EU 4 95149406 95149406 deletion of <=200bp A - intron_variant BRCA-EU 4 95152314 95152314 deletion of <=200bp T - intron_variant BRCA-EU 4 95152560 95152560 single base substitution G C intron_variant BRCA-EU 4 95154953 95154953 deletion of <=200bp A - intron_variant BRCA-EU 4 95155420 95155420 single base substitution C T intron_variant BRCA-EU 4 95157010 95157010 single base substitution T A intron_variant BRCA-EU 4 95157333 95157333 single base substitution G C intron_variant BRCA-EU 4 95158324 95158324 single base substitution A G intron_variant BRCA-EU 4 95158480 95158480 single base substitution A G intron_variant BRCA-EU 4 95159802 95159802 deletion of <=200bp A - intron_variant BRCA-EU 4 95159820 95159820 single base substitution G A intron_variant BRCA-EU 4 95163198 95163198 single base substitution G C intron_variant BRCA-EU 4 95166609 95166609 single base substitution G C intron_variant BRCA-EU 4 95167434 95167434 single base substitution C T intron_variant BRCA-EU 4 95169623 95169623 single base substitution G C intron_variant BRCA-EU 4 95169623 95169623 single base substitution G C upstream_gene_variant BRCA-EU 4 95169840 95169840 single base substitution T G intron_variant BRCA-EU 4 95169840 95169840 single base substitution T G upstream_gene_variant BRCA-EU 4 95170133 95170133 single base substitution A G intron_variant BRCA-EU 4 95170133 95170133 single base substitution A G upstream_gene_variant BRCA-EU 4 95170396 95170396 single base substitution G C intron_variant BRCA-EU 4 95170396 95170396 single base substitution G C upstream_gene_variant BRCA-EU 4 95170471 95170471 single base substitution G A intron_variant BRCA-EU 4 95170471 95170471 single base substitution G A upstream_gene_variant BRCA-EU 4 95170703 95170703 single base substitution G A intron_variant BRCA-EU 4 95170703 95170703 single base substitution G A upstream_gene_variant BRCA-EU 4 95171366 95171366 single base substitution C T intron_variant BRCA-EU 4 95171366 95171366 single base substitution C T upstream_gene_variant BRCA-EU 4 95173695 95173695 single base substitution G A intron_variant BRCA-EU 4 95173695 95173695 single base substitution G A upstream_gene_variant BRCA-EU 4 95174391 95174391 single base substitution G A intron_variant BRCA-EU 4 95174391 95174391 single base substitution G A upstream_gene_variant BRCA-EU 4 95178036 95178036 single base substitution T C intron_variant BRCA-EU 4 95178211 95178211 single base substitution A T intron_variant BRCA-EU 4 95179345 95179345 single base substitution A G intron_variant BRCA-EU 4 95179550 95179550 single base substitution C T intron_variant BRCA-EU 4 95179904 95179904 single base substitution G C intron_variant BRCA-EU 4 95181875 95181875 single base substitution C T intron_variant BRCA-EU 4 95181875 95181875 single base substitution C T upstream_gene_variant BRCA-EU 4 95181876 95181876 single base substitution G A intron_variant BRCA-EU 4 95181876 95181876 single base substitution G A upstream_gene_variant BRCA-EU 4 95184149 95184149 single base substitution G C intron_variant BRCA-EU 4 95184149 95184149 single base substitution G C upstream_gene_variant BRCA-EU 4 95184565 95184565 single base substitution G C intron_variant BRCA-EU 4 95184565 95184565 single base substitution G C upstream_gene_variant BRCA-EU 4 95184853 95184853 single base substitution T C intron_variant BRCA-EU 4 95184853 95184853 single base substitution T C upstream_gene_variant BRCA-EU 4 95186257 95186275 deletion of <=200bp ATCATATCATTATAAATTA - intron_variant BRCA-EU 4 95186278 95186278 deletion of <=200bp G - intron_variant BRCA-EU 4 95186661 95186661 single base substitution A G intron_variant BRCA-EU 4 95191330 95191330 single base substitution A G intron_variant BRCA-EU 4 95191330 95191330 single base substitution A G upstream_gene_variant BRCA-EU 4 95191733 95191733 deletion of <=200bp T - exon_variant BRCA-EU 4 95191733 95191733 deletion of <=200bp T - intron_variant BRCA-EU 4 95192080 95192080 single base substitution C G intron_variant BRCA-EU 4 95192120 95192120 single base substitution G C intron_variant BRCA-EU 4 95192335 95192335 single base substitution C T intron_variant BRCA-EU 4 95195499 95195499 single base substitution G C downstream_gene_variant BRCA-EU 4 95195499 95195499 single base substitution G C intron_variant BRCA-EU 4 95195678 95195678 single base substitution G T downstream_gene_variant BRCA-EU 4 95195678 95195678 single base substitution G T intron_variant BRCA-EU 4 95195715 95195715 single base substitution G A downstream_gene_variant BRCA-EU 4 95195715 95195715 single base substitution G A intron_variant BRCA-EU 4 95196703 95196703 single base substitution T G downstream_gene_variant BRCA-EU 4 95196703 95196703 single base substitution T G intron_variant BRCA-EU 4 95197554 95197554 single base substitution G A 3_prime_UTR_variant BRCA-EU 4 95197554 95197554 single base substitution G A downstream_gene_variant BRCA-EU 4 95197554 95197554 single base substitution G A missense_variant A195T 583G>A BRCA-EU 4 95197554 95197554 single base substitution G A missense_variant A625T 1873G>A BRCA-EU 4 95200039 95200039 single base substitution C T downstream_gene_variant BRCA-EU 4 95200039 95200039 single base substitution C T intron_variant BRCA-EU 4 95200654 95200654 single base substitution G C downstream_gene_variant BRCA-EU 4 95200654 95200654 single base substitution G C intron_variant BRCA-EU 4 95201992 95201992 single base substitution A G downstream_gene_variant BRCA-EU 4 95201992 95201992 single base substitution A G intron_variant BRCA-EU 4 95202572 95202572 single base substitution G C downstream_gene_variant BRCA-EU 4 95202572 95202572 single base substitution G C intron_variant BRCA-EU 4 95202737 95202737 single base substitution G A 3_prime_UTR_variant BRCA-EU 4 95202737 95202737 single base substitution G A downstream_gene_variant BRCA-EU 4 95202737 95202737 single base substitution G A missense_variant E478K 1432G>A BRCA-EU 4 95202737 95202737 single base substitution G A missense_variant E908K 2722G>A BRCA-EU 4 95202737 95202737 single base substitution G A missense_variant E910K 2728G>A BRCA-EU 4 95202877 95202877 single base substitution G C downstream_gene_variant BRCA-EU 4 95202877 95202877 single base substitution G C intron_variant BRCA-EU 4 95203513 95203513 single base substitution C G intron_variant BRCA-EU 4 95203526 95203526 single base substitution C G intron_variant BRCA-EU 4 95203865 95203865 single base substitution A T intron_variant BRCA-EU 4 95204592 95204592 single base substitution G A intron_variant BRCA-EU 4 95206100 95206100 deletion of <=200bp T - intron_variant BRCA-EU 4 95208870 95208870 deletion of <=200bp T - intron_variant BRCA-EU 4 95209340 95209340 single base substitution A T intron_variant BRCA-EU 4 95209430 95209430 single base substitution C A intron_variant BRCA-EU 4 95209486 95209486 single base substitution C G intron_variant BRCA-EU 4 95209924 95209924 single base substitution T A intron_variant BRCA-EU 4 95211983 95211983 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 4 95211983 95211983 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 95213962 95213962 insertion of <=200bp - T downstream_gene_variant BRCA-EU 4 95214701 95214701 single base substitution A G downstream_gene_variant BRCA-EU 4 95216638 95216638 single base substitution G C downstream_gene_variant BRCA-EU 4 95216858 95216858 single base substitution G C downstream_gene_variant BRCA-FR 4 95131563 95131563 single base substitution A G intron_variant BRCA-FR 4 95131794 95131794 single base substitution G A intron_variant BRCA-FR 4 95133656 95133656 single base substitution G C intron_variant BRCA-FR 4 95134352 95134352 single base substitution T C intron_variant BRCA-FR 4 95134425 95134425 single base substitution G A intron_variant BRCA-FR 4 95136276 95136276 single base substitution G A intron_variant BRCA-FR 4 95144048 95144048 single base substitution G C intron_variant BRCA-FR 4 95157333 95157333 single base substitution G C intron_variant BRCA-FR 4 95181191 95181191 single base substitution C T intron_variant BRCA-FR 4 95181191 95181191 single base substitution C T upstream_gene_variant BRCA-FR 4 95183975 95183975 single base substitution C T intron_variant BRCA-FR 4 95183975 95183975 single base substitution C T upstream_gene_variant BRCA-FR 4 95185176 95185176 single base substitution T C intron_variant BRCA-FR 4 95185176 95185176 single base substitution T C upstream_gene_variant BRCA-FR 4 95192186 95192186 single base substitution G C intron_variant BRCA-FR 4 95194007 95194007 single base substitution G T intron_variant BRCA-FR 4 95216638 95216638 single base substitution G C downstream_gene_variant BRCA-KR 4 95169681 95169681 single base substitution G C 3_prime_UTR_variant BRCA-KR 4 95169681 95169681 single base substitution G C intron_variant BRCA-KR 4 95169681 95169681 single base substitution G C upstream_gene_variant BRCA-UK 4 95124055 95124055 single base substitution G C upstream_gene_variant BRCA-UK 4 95125550 95125550 single base substitution C T upstream_gene_variant BRCA-UK 4 95181875 95181875 single base substitution C T intron_variant BRCA-UK 4 95181875 95181875 single base substitution C T upstream_gene_variant BRCA-UK 4 95184565 95184565 single base substitution G C intron_variant BRCA-UK 4 95184565 95184565 single base substitution G C upstream_gene_variant BRCA-UK 4 95189884 95189884 single base substitution G A intron_variant BRCA-UK 4 95189884 95189884 single base substitution G A upstream_gene_variant BRCA-US 4 95162063 95162063 single base substitution G C 3_prime_UTR_variant BRCA-US 4 95162063 95162063 single base substitution G C exon_variant BRCA-US 4 95162063 95162063 single base substitution G C missense_variant G204A 611G>C BRCA-US 4 95173838 95173838 deletion of <=200bp A - 3_prime_UTR_variant BRCA-US 4 95173838 95173838 deletion of <=200bp A - frameshift_variant K321 BRCA-US 4 95173838 95173838 deletion of <=200bp A - upstream_gene_variant BRCA-US 4 95173909 95173909 insertion of <=200bp - A 3_prime_UTR_variant BRCA-US 4 95173909 95173909 insertion of <=200bp - A frameshift_variant R344R? BRCA-US 4 95173909 95173909 insertion of <=200bp - A upstream_gene_variant BRCA-US 4 95173942 95173942 single base substitution T G 3_prime_UTR_variant BRCA-US 4 95173942 95173942 single base substitution T G synonymous_variant V355V 1065T>G BRCA-US 4 95173942 95173942 single base substitution T G upstream_gene_variant BRCA-US 4 95206186 95206186 single base substitution G A 3_prime_UTR_variant BRCA-US 4 95206186 95206186 single base substitution G A synonymous_variant L565L 1695G>A BRCA-US 4 95206186 95206186 single base substitution G A synonymous_variant L995L 2985G>A BRCA-US 4 95206186 95206186 single base substitution G A synonymous_variant L997L 2991G>A BTCA-JP 4 95169694 95169694 single base substitution G T 3_prime_UTR_variant BTCA-JP 4 95169694 95169694 single base substitution G T intron_variant BTCA-JP 4 95169694 95169694 single base substitution G T upstream_gene_variant BTCA-JP 4 95170784 95170784 deletion of <=200bp T - intron_variant BTCA-JP 4 95170784 95170784 deletion of <=200bp T - upstream_gene_variant BTCA-JP 4 95173910 95173910 deletion of <=200bp A - 3_prime_UTR_variant BTCA-JP 4 95173910 95173910 deletion of <=200bp A - frameshift_variant K345 BTCA-JP 4 95173910 95173910 deletion of <=200bp A - upstream_gene_variant BTCA-JP 4 95174069 95174069 single base substitution A G 3_prime_UTR_variant BTCA-JP 4 95174069 95174069 single base substitution A G missense_variant I398V 1192A>G BTCA-JP 4 95174069 95174069 single base substitution A G upstream_gene_variant BTCA-JP 4 95186084 95186084 single base substitution G A intron_variant BTCA-JP 4 95194859 95194859 single base substitution C T 3_prime_UTR_variant BTCA-JP 4 95194859 95194859 single base substitution C T downstream_gene_variant BTCA-JP 4 95194859 95194859 single base substitution C T exon_variant BTCA-JP 4 95194859 95194859 single base substitution C T missense_variant S125L 374C>T BTCA-JP 4 95194859 95194859 single base substitution C T missense_variant S555L 1664C>T BTCA-JP 4 95194912 95194912 single base substitution A G downstream_gene_variant BTCA-JP 4 95194912 95194912 single base substitution A G intron_variant BTCA-JP 4 95200037 95200037 single base substitution T C downstream_gene_variant BTCA-JP 4 95200037 95200037 single base substitution T C intron_variant CESC-US 4 95129564 95129564 single base substitution G T exon_variant CESC-US 4 95129564 95129564 single base substitution G T missense_variant D7Y 19G>T CESC-US 4 95147284 95147284 single base substitution C G 3_prime_UTR_variant CESC-US 4 95147284 95147284 single base substitution C G exon_variant CESC-US 4 95147284 95147284 single base substitution C G missense_variant P69A 205C>G CESC-US 4 95155109 95155109 single base substitution G A 3_prime_UTR_variant CESC-US 4 95155109 95155109 single base substitution G A exon_variant CESC-US 4 95155109 95155109 single base substitution G A missense_variant E125K 373G>A CESC-US 4 95174009 95174009 single base substitution G A 3_prime_UTR_variant CESC-US 4 95174009 95174009 single base substitution G A missense_variant E378K 1132G>A CESC-US 4 95174009 95174009 single base substitution G A upstream_gene_variant CESC-US 4 95199770 95199770 single base substitution C G 3_prime_UTR_variant CESC-US 4 95199770 95199770 single base substitution C G downstream_gene_variant CESC-US 4 95199770 95199770 single base substitution C G missense_variant L298V 892C>G CESC-US 4 95199770 95199770 single base substitution C G missense_variant L728V 2182C>G CLLE-ES 4 95124300 95124300 single base substitution G A upstream_gene_variant CLLE-ES 4 95136821 95136821 single base substitution T C intron_variant CLLE-ES 4 95167623 95167623 single base substitution C G intron_variant CLLE-ES 4 95170779 95170783 deletion of <=200bp TTTTC - intron_variant CLLE-ES 4 95170779 95170783 deletion of <=200bp TTTTC - upstream_gene_variant CLLE-ES 4 95175650 95175650 single base substitution G A intron_variant CLLE-ES 4 95180322 95180322 single base substitution G A intron_variant CLLE-ES 4 95183235 95183235 single base substitution G A intron_variant CLLE-ES 4 95183235 95183235 single base substitution G A upstream_gene_variant CLLE-ES 4 95186683 95186683 single base substitution C T intron_variant COAD-US 4 95173841 95173841 single base substitution A C 3_prime_UTR_variant COAD-US 4 95173841 95173841 single base substitution A C missense_variant N322H 964A>C COAD-US 4 95173841 95173841 single base substitution A C upstream_gene_variant COAD-US 4 95173910 95173910 deletion of <=200bp A - 3_prime_UTR_variant COAD-US 4 95173910 95173910 deletion of <=200bp A - frameshift_variant K345 COAD-US 4 95173910 95173910 deletion of <=200bp A - upstream_gene_variant COAD-US 4 95174040 95174040 single base substitution A C 3_prime_UTR_variant COAD-US 4 95174040 95174040 single base substitution A C missense_variant K388T 1163A>C COAD-US 4 95174040 95174040 single base substitution A C upstream_gene_variant COAD-US 4 95198174 95198174 single base substitution C A downstream_gene_variant COAD-US 4 95198174 95198174 single base substitution C A missense_variant A219E 656C>A COAD-US 4 95198174 95198174 single base substitution C A missense_variant A649E 1946C>A COAD-US 4 95198174 95198174 single base substitution C A splice_region_variant COAD-US 4 95199781 95199781 insertion of <=200bp - C 3_prime_UTR_variant COAD-US 4 95199781 95199781 insertion of <=200bp - C downstream_gene_variant COAD-US 4 95199781 95199781 insertion of <=200bp - C frameshift_variant L301F? COAD-US 4 95199781 95199781 insertion of <=200bp - C frameshift_variant L731F? COAD-US 4 95200149 95200149 single base substitution G T 3_prime_UTR_variant COAD-US 4 95200149 95200149 single base substitution G T downstream_gene_variant COAD-US 4 95200149 95200149 single base substitution G T missense_variant R359L 1076G>T COAD-US 4 95200149 95200149 single base substitution G T missense_variant R789L 2366G>T COAD-US 4 95200149 95200149 single base substitution G T missense_variant R791L 2372G>T COAD-US 4 95201761 95201761 single base substitution G A 3_prime_UTR_variant COAD-US 4 95201761 95201761 single base substitution G A downstream_gene_variant COAD-US 4 95201761 95201761 single base substitution G A missense_variant A383T 1147G>A COAD-US 4 95201761 95201761 single base substitution G A missense_variant A813T 2437G>A COAD-US 4 95201761 95201761 single base substitution G A missense_variant A815T 2443G>A COCA-CN 4 95135517 95135517 single base substitution A G intron_variant COCA-CN 4 95169477 95169477 single base substitution G A intron_variant COCA-CN 4 95169477 95169477 single base substitution G A upstream_gene_variant COCA-CN 4 95169563 95169563 single base substitution G A intron_variant COCA-CN 4 95169563 95169563 single base substitution G A upstream_gene_variant COCA-CN 4 95196071 95196071 single base substitution T C 3_prime_UTR_variant COCA-CN 4 95196071 95196071 single base substitution T C downstream_gene_variant COCA-CN 4 95196071 95196071 single base substitution T C exon_variant COCA-CN 4 95196071 95196071 single base substitution T C missense_variant F158S 473T>C COCA-CN 4 95196071 95196071 single base substitution T C missense_variant F588S 1763T>C COCA-CN 4 95199496 95199496 single base substitution T A downstream_gene_variant COCA-CN 4 95199496 95199496 single base substitution T A intron_variant COCA-CN 4 95201809 95201809 single base substitution G A 3_prime_UTR_variant COCA-CN 4 95201809 95201809 single base substitution G A downstream_gene_variant COCA-CN 4 95201809 95201809 single base substitution G A missense_variant E399K 1195G>A COCA-CN 4 95201809 95201809 single base substitution G A missense_variant E829K 2485G>A COCA-CN 4 95201809 95201809 single base substitution G A missense_variant E831K 2491G>A COCA-CN 4 95206146 95206146 single base substitution C T 3_prime_UTR_variant COCA-CN 4 95206146 95206146 single base substitution C T missense_variant T552M 1655C>T COCA-CN 4 95206146 95206146 single base substitution C T missense_variant T982M 2945C>T COCA-CN 4 95206146 95206146 single base substitution C T missense_variant T984M 2951C>T COCA-CN 4 95206258 95206258 single base substitution A G intron_variant COCA-CN 4 95216446 95216446 single base substitution G T downstream_gene_variant EOPC-DE 4 95147599 95147599 single base substitution A T intron_variant EOPC-DE 4 95152144 95152144 single base substitution G A intron_variant EOPC-DE 4 95180820 95180820 single base substitution C T intron_variant EOPC-DE 4 95180820 95180820 single base substitution C T upstream_gene_variant ESAD-UK 4 95124898 95124898 single base substitution C T upstream_gene_variant ESAD-UK 4 95126493 95126493 single base substitution G A upstream_gene_variant ESAD-UK 4 95135707 95135707 single base substitution G A intron_variant ESAD-UK 4 95138219 95138219 single base substitution T A intron_variant ESAD-UK 4 95138880 95138880 single base substitution C T intron_variant ESAD-UK 4 95141619 95141619 single base substitution G A intron_variant ESAD-UK 4 95143766 95143766 single base substitution T A intron_variant ESAD-UK 4 95148088 95148088 single base substitution C T intron_variant ESAD-UK 4 95152077 95152077 single base substitution G A intron_variant ESAD-UK 4 95152325 95152325 deletion of <=200bp T - intron_variant ESAD-UK 4 95154953 95154953 deletion of <=200bp A - intron_variant ESAD-UK 4 95157791 95157791 single base substitution A C intron_variant ESAD-UK 4 95164866 95164866 single base substitution C A intron_variant ESAD-UK 4 95171126 95171126 deletion of <=200bp A - intron_variant ESAD-UK 4 95171126 95171126 deletion of <=200bp A - upstream_gene_variant ESAD-UK 4 95172276 95172276 single base substitution A G intron_variant ESAD-UK 4 95172276 95172276 single base substitution A G upstream_gene_variant ESAD-UK 4 95174392 95174405 deletion of <=200bp AATACTGTCACTCA - intron_variant ESAD-UK 4 95174392 95174405 deletion of <=200bp AATACTGTCACTCA - upstream_gene_variant ESAD-UK 4 95175232 95175232 single base substitution A T intron_variant ESAD-UK 4 95176689 95176689 single base substitution A T intron_variant ESAD-UK 4 95178384 95178384 single base substitution G A intron_variant ESAD-UK 4 95180370 95180370 single base substitution G C intron_variant ESAD-UK 4 95181016 95181016 single base substitution A C intron_variant ESAD-UK 4 95181016 95181016 single base substitution A C upstream_gene_variant ESAD-UK 4 95186401 95186401 deletion of <=200bp A - intron_variant ESAD-UK 4 95186836 95186836 deletion of <=200bp T - intron_variant ESAD-UK 4 95186836 95186836 deletion of <=200bp T - upstream_gene_variant ESAD-UK 4 95188779 95188779 single base substitution T C intron_variant ESAD-UK 4 95188779 95188779 single base substitution T C upstream_gene_variant ESAD-UK 4 95190946 95190946 single base substitution A G intron_variant ESAD-UK 4 95190946 95190946 single base substitution A G upstream_gene_variant ESAD-UK 4 95193363 95193363 single base substitution C T intron_variant ESAD-UK 4 95193798 95193798 single base substitution A G intron_variant ESAD-UK 4 95196116 95196116 single base substitution C T downstream_gene_variant ESAD-UK 4 95196116 95196116 single base substitution C T missense_variant T173I 518C>T ESAD-UK 4 95196116 95196116 single base substitution C T missense_variant T603I 1808C>T ESAD-UK 4 95196116 95196116 single base substitution C T splice_region_variant ESAD-UK 4 95196121 95196121 single base substitution G C downstream_gene_variant ESAD-UK 4 95196121 95196121 single base substitution G C splice_region_variant ESAD-UK 4 95196457 95196458 deletion of <=200bp TG - downstream_gene_variant ESAD-UK 4 95196457 95196458 deletion of <=200bp TG - intron_variant ESAD-UK 4 95196524 95196524 single base substitution A G downstream_gene_variant ESAD-UK 4 95196524 95196524 single base substitution A G intron_variant ESAD-UK 4 95197553 95197553 single base substitution C T 3_prime_UTR_variant ESAD-UK 4 95197553 95197553 single base substitution C T downstream_gene_variant ESAD-UK 4 95197553 95197553 single base substitution C T synonymous_variant Y194Y 582C>T ESAD-UK 4 95197553 95197553 single base substitution C T synonymous_variant Y624Y 1872C>T ESAD-UK 4 95197985 95197985 single base substitution G T downstream_gene_variant ESAD-UK 4 95197985 95197985 single base substitution G T intron_variant ESAD-UK 4 95200076 95200076 single base substitution A C downstream_gene_variant ESAD-UK 4 95200076 95200076 single base substitution A C missense_variant T767P 2299A>C ESAD-UK 4 95200076 95200076 single base substitution A C splice_region_variant ESAD-UK 4 95200264 95200264 single base substitution G A downstream_gene_variant ESAD-UK 4 95200264 95200264 single base substitution G A intron_variant ESAD-UK 4 95202798 95202798 single base substitution A T downstream_gene_variant ESAD-UK 4 95202798 95202798 single base substitution A T intron_variant ESAD-UK 4 95205599 95205599 single base substitution G T intron_variant ESAD-UK 4 95205731 95205731 single base substitution T G intron_variant ESAD-UK 4 95207537 95207537 single base substitution C G intron_variant ESAD-UK 4 95208262 95208262 single base substitution C T intron_variant ESAD-UK 4 95210559 95210559 single base substitution T G intron_variant ESAD-UK 4 95212040 95212040 single base substitution A G 3_prime_UTR_variant ESAD-UK 4 95212040 95212040 single base substitution A G downstream_gene_variant ESAD-UK 4 95212428 95212428 single base substitution A G 3_prime_UTR_variant ESAD-UK 4 95212428 95212428 single base substitution A G downstream_gene_variant ESAD-UK 4 95215053 95215053 deletion of <=200bp A - downstream_gene_variant ESAD-UK 4 95215170 95215170 single base substitution G A downstream_gene_variant KIRC-US 4 95199614 95199614 single base substitution A G 3_prime_UTR_variant KIRC-US 4 95199614 95199614 single base substitution A G downstream_gene_variant KIRC-US 4 95199614 95199614 single base substitution A G missense_variant I278M 834A>G KIRC-US 4 95199614 95199614 single base substitution A G missense_variant I708M 2124A>G KIRP-US 4 95174021 95174021 single base substitution G A 3_prime_UTR_variant KIRP-US 4 95174021 95174021 single base substitution G A missense_variant E382K 1144G>A KIRP-US 4 95174021 95174021 single base substitution G A upstream_gene_variant KIRP-US 4 95191935 95191935 single base substitution A G 3_prime_UTR_variant KIRP-US 4 95191935 95191935 single base substitution A G exon_variant KIRP-US 4 95191935 95191935 single base substitution A G missense_variant K513R 1538A>G KIRP-US 4 95191935 95191935 single base substitution A G missense_variant K83R 248A>G KIRP-US 4 95204298 95204298 single base substitution C G 3_prime_UTR_variant KIRP-US 4 95204298 95204298 single base substitution C G missense_variant T488S 1463C>G KIRP-US 4 95204298 95204298 single base substitution C G missense_variant T918S 2753C>G KIRP-US 4 95204298 95204298 single base substitution C G missense_variant T920S 2759C>G LAML-KR 4 95147553 95147553 single base substitution C T intron_variant LAML-KR 4 95147554 95147554 single base substitution T C intron_variant LAML-KR 4 95161996 95161996 single base substitution C T intron_variant LICA-CN 4 95173769 95173769 single base substitution A T missense_variant M298L 892A>T LICA-CN 4 95173769 95173769 single base substitution A T splice_region_variant LICA-CN 4 95173769 95173769 single base substitution A T upstream_gene_variant LICA-FR 4 95137421 95137421 single base substitution A G intron_variant LICA-FR 4 95154412 95154412 single base substitution T A intron_variant LICA-FR 4 95160331 95160331 single base substitution A G intron_variant LICA-FR 4 95170423 95170423 single base substitution A G intron_variant LICA-FR 4 95170423 95170423 single base substitution A G upstream_gene_variant LICA-FR 4 95171922 95171922 single base substitution A G 3_prime_UTR_variant LICA-FR 4 95171922 95171922 single base substitution A G missense_variant K276R 827A>G LICA-FR 4 95171922 95171922 single base substitution A G upstream_gene_variant LICA-FR 4 95172443 95172443 single base substitution G T intron_variant LICA-FR 4 95172443 95172443 single base substitution G T upstream_gene_variant LICA-FR 4 95187692 95187692 single base substitution A G intron_variant LICA-FR 4 95187692 95187692 single base substitution A G upstream_gene_variant LICA-FR 4 95191952 95191952 single base substitution A G 3_prime_UTR_variant LICA-FR 4 95191952 95191952 single base substitution A G exon_variant LICA-FR 4 95191952 95191952 single base substitution A G missense_variant I519V 1555A>G LICA-FR 4 95191952 95191952 single base substitution A G missense_variant I89V 265A>G LICA-FR 4 95193187 95193187 single base substitution A C intron_variant LICA-FR 4 95196882 95196882 single base substitution A C downstream_gene_variant LICA-FR 4 95196882 95196882 single base substitution A C intron_variant LICA-FR 4 95215649 95215649 single base substitution C G downstream_gene_variant LICA-FR 4 95216938 95216938 single base substitution G A downstream_gene_variant LIHC-US 4 95198291 95198291 single base substitution G T 3_prime_UTR_variant LIHC-US 4 95198291 95198291 single base substitution G T downstream_gene_variant LIHC-US 4 95198291 95198291 single base substitution G T missense_variant R258I 773G>T LIHC-US 4 95198291 95198291 single base substitution G T missense_variant R688I 2063G>T LINC-JP 4 95123973 95123973 single base substitution A G upstream_gene_variant LINC-JP 4 95129623 95129623 single base substitution A G exon_variant LINC-JP 4 95129623 95129623 single base substitution A G synonymous_variant Q26Q 78A>G LINC-JP 4 95134264 95134264 single base substitution T A 3_prime_UTR_variant LINC-JP 4 95134264 95134264 single base substitution T A intron_variant LINC-JP 4 95134481 95134481 single base substitution A G intron_variant LINC-JP 4 95147335 95147335 single base substitution C T 3_prime_UTR_variant LINC-JP 4 95147335 95147335 single base substitution C T exon_variant LINC-JP 4 95147335 95147335 single base substitution C T stop_gained Q86* 256C>T LINC-JP 4 95153684 95153684 single base substitution A T intron_variant LINC-JP 4 95174069 95174069 single base substitution A G 3_prime_UTR_variant LINC-JP 4 95174069 95174069 single base substitution A G missense_variant I398V 1192A>G LINC-JP 4 95174069 95174069 single base substitution A G upstream_gene_variant LINC-JP 4 95174123 95174123 single base substitution A G 3_prime_UTR_variant LINC-JP 4 95174123 95174123 single base substitution A G missense_variant T416A 1246A>G LINC-JP 4 95174123 95174123 single base substitution A G upstream_gene_variant LINC-JP 4 95174254 95174254 single base substitution G A intron_variant LINC-JP 4 95174254 95174254 single base substitution G A upstream_gene_variant LINC-JP 4 95175634 95175634 single base substitution G C intron_variant LINC-JP 4 95191974 95191974 single base substitution G T intron_variant LINC-JP 4 95191974 95191974 single base substitution G T splice_region_variant LINC-JP 4 95196957 95196957 single base substitution T A downstream_gene_variant LINC-JP 4 95196957 95196957 single base substitution T A intron_variant LINC-JP 4 95196962 95196962 single base substitution T A downstream_gene_variant LINC-JP 4 95196962 95196962 single base substitution T A intron_variant LINC-JP 4 95198170 95198170 single base substitution C A downstream_gene_variant LINC-JP 4 95198170 95198170 single base substitution C A intron_variant LINC-JP 4 95198170 95198170 single base substitution C A splice_region_variant LINC-JP 4 95201961 95201961 single base substitution A G downstream_gene_variant LINC-JP 4 95201961 95201961 single base substitution A G intron_variant LIRI-JP 4 95127315 95127315 single base substitution C T upstream_gene_variant LIRI-JP 4 95127359 95127359 single base substitution C T upstream_gene_variant LIRI-JP 4 95129848 95129848 single base substitution G A intron_variant LIRI-JP 4 95131480 95131480 single base substitution G C intron_variant LIRI-JP 4 95131849 95131849 single base substitution G C intron_variant LIRI-JP 4 95131873 95131873 single base substitution C T intron_variant LIRI-JP 4 95133500 95133500 single base substitution A G intron_variant LIRI-JP 4 95134653 95134653 single base substitution A G intron_variant LIRI-JP 4 95135721 95135721 single base substitution G A intron_variant LIRI-JP 4 95136447 95136447 single base substitution T G intron_variant LIRI-JP 4 95138618 95138618 single base substitution A G intron_variant LIRI-JP 4 95139045 95139045 single base substitution A G intron_variant LIRI-JP 4 95141805 95141805 single base substitution A G intron_variant LIRI-JP 4 95142745 95142745 single base substitution C T intron_variant LIRI-JP 4 95143232 95143232 single base substitution T C intron_variant LIRI-JP 4 95143749 95143749 single base substitution A C intron_variant LIRI-JP 4 95144154 95144154 single base substitution A G intron_variant LIRI-JP 4 95144273 95144273 single base substitution C G intron_variant LIRI-JP 4 95145770 95145770 single base substitution A G intron_variant LIRI-JP 4 95146224 95146224 single base substitution A G intron_variant LIRI-JP 4 95148135 95148135 single base substitution G A intron_variant LIRI-JP 4 95149642 95149642 single base substitution A G intron_variant LIRI-JP 4 95154759 95154759 single base substitution G A intron_variant LIRI-JP 4 95155243 95155243 single base substitution T C 3_prime_UTR_variant LIRI-JP 4 95155243 95155243 single base substitution T C exon_variant LIRI-JP 4 95155243 95155243 single base substitution T C synonymous_variant F169F 507T>C LIRI-JP 4 95158079 95158079 single base substitution A C intron_variant LIRI-JP 4 95173027 95173027 single base substitution G T intron_variant LIRI-JP 4 95173027 95173027 single base substitution G T upstream_gene_variant LIRI-JP 4 95173588 95173588 single base substitution A G intron_variant LIRI-JP 4 95173588 95173588 single base substitution A G upstream_gene_variant LIRI-JP 4 95179288 95179288 single base substitution A G intron_variant LIRI-JP 4 95182708 95182708 single base substitution A G intron_variant LIRI-JP 4 95182708 95182708 single base substitution A G upstream_gene_variant LIRI-JP 4 95183725 95183725 single base substitution G A intron_variant LIRI-JP 4 95183725 95183725 single base substitution G A upstream_gene_variant LIRI-JP 4 95183854 95183854 single base substitution A T intron_variant LIRI-JP 4 95183854 95183854 single base substitution A T upstream_gene_variant LIRI-JP 4 95184772 95184772 single base substitution A G intron_variant LIRI-JP 4 95184772 95184772 single base substitution A G upstream_gene_variant LIRI-JP 4 95185089 95185089 single base substitution A G intron_variant LIRI-JP 4 95185089 95185089 single base substitution A G upstream_gene_variant LIRI-JP 4 95185091 95185091 single base substitution T C intron_variant LIRI-JP 4 95185091 95185091 single base substitution T C upstream_gene_variant LIRI-JP 4 95185850 95185850 single base substitution T C exon_variant LIRI-JP 4 95185850 95185850 single base substitution T C splice_region_variant LIRI-JP 4 95188538 95188538 single base substitution T G intron_variant LIRI-JP 4 95188538 95188538 single base substitution T G upstream_gene_variant LIRI-JP 4 95188895 95188895 single base substitution G A intron_variant LIRI-JP 4 95188895 95188895 single base substitution G A upstream_gene_variant LIRI-JP 4 95195433 95195433 single base substitution T C downstream_gene_variant LIRI-JP 4 95195433 95195433 single base substitution T C intron_variant LIRI-JP 4 95197553 95197553 single base substitution C T 3_prime_UTR_variant LIRI-JP 4 95197553 95197553 single base substitution C T downstream_gene_variant LIRI-JP 4 95197553 95197553 single base substitution C T synonymous_variant Y194Y 582C>T LIRI-JP 4 95197553 95197553 single base substitution C T synonymous_variant Y624Y 1872C>T LIRI-JP 4 95198163 95198163 single base substitution T A downstream_gene_variant LIRI-JP 4 95198163 95198163 single base substitution T A intron_variant LIRI-JP 4 95200502 95200502 single base substitution G A downstream_gene_variant LIRI-JP 4 95200502 95200502 single base substitution G A intron_variant LIRI-JP 4 95203956 95203956 single base substitution A C intron_variant LIRI-JP 4 95204175 95204175 single base substitution C A intron_variant LIRI-JP 4 95204715 95204715 single base substitution G T intron_variant LIRI-JP 4 95207451 95207451 single base substitution C G intron_variant LIRI-JP 4 95210351 95210351 single base substitution G A intron_variant LIRI-JP 4 95210513 95210513 single base substitution T C intron_variant LIRI-JP 4 95210786 95210786 single base substitution T G 3_prime_UTR_variant LIRI-JP 4 95214504 95214504 single base substitution A G downstream_gene_variant LIRI-JP 4 95214700 95214700 single base substitution A C downstream_gene_variant LIRI-JP 4 95215781 95215781 single base substitution A G downstream_gene_variant LUSC-KR 4 95126796 95126796 single base substitution C A upstream_gene_variant LUSC-KR 4 95127202 95127202 single base substitution C A upstream_gene_variant LUSC-KR 4 95127464 95127464 single base substitution A T upstream_gene_variant LUSC-KR 4 95127561 95127561 single base substitution C T upstream_gene_variant LUSC-KR 4 95133863 95133863 single base substitution C A intron_variant LUSC-KR 4 95135538 95135538 single base substitution G A intron_variant LUSC-KR 4 95147513 95147513 single base substitution T G intron_variant LUSC-KR 4 95150333 95150333 single base substitution G A intron_variant LUSC-KR 4 95163310 95163310 single base substitution G C intron_variant LUSC-KR 4 95163826 95163826 single base substitution A G intron_variant LUSC-KR 4 95171485 95171485 single base substitution G A intron_variant LUSC-KR 4 95171485 95171485 single base substitution G A upstream_gene_variant LUSC-KR 4 95179733 95179733 single base substitution G T intron_variant LUSC-KR 4 95181513 95181513 single base substitution G C intron_variant LUSC-KR 4 95181513 95181513 single base substitution G C upstream_gene_variant LUSC-KR 4 95184668 95184668 single base substitution G A intron_variant LUSC-KR 4 95184668 95184668 single base substitution G A upstream_gene_variant LUSC-KR 4 95187860 95187860 single base substitution G A intron_variant LUSC-KR 4 95187860 95187860 single base substitution G A upstream_gene_variant LUSC-KR 4 95191039 95191039 single base substitution G A intron_variant LUSC-KR 4 95191039 95191039 single base substitution G A upstream_gene_variant LUSC-KR 4 95195706 95195706 single base substitution G A downstream_gene_variant LUSC-KR 4 95195706 95195706 single base substitution G A intron_variant LUSC-KR 4 95199092 95199092 single base substitution C G downstream_gene_variant LUSC-KR 4 95199092 95199092 single base substitution C G intron_variant LUSC-KR 4 95202286 95202286 single base substitution A T downstream_gene_variant LUSC-KR 4 95202286 95202286 single base substitution A T intron_variant LUSC-KR 4 95202486 95202486 single base substitution G C downstream_gene_variant LUSC-KR 4 95202486 95202486 single base substitution G C intron_variant LUSC-KR 4 95208143 95208143 single base substitution A G intron_variant LUSC-KR 4 95214548 95214548 single base substitution G T downstream_gene_variant LUSC-KR 4 95214786 95214786 single base substitution A G downstream_gene_variant LUSC-KR 4 95215627 95215627 single base substitution A G downstream_gene_variant LUSC-KR 4 95216281 95216281 single base substitution G C downstream_gene_variant LUSC-KR 4 95216330 95216330 single base substitution A G downstream_gene_variant LUSC-KR 4 95216369 95216369 single base substitution G A downstream_gene_variant LUSC-KR 4 95216552 95216552 single base substitution A G downstream_gene_variant LUSC-KR 4 95216650 95216650 single base substitution G A downstream_gene_variant LUSC-US 4 95162117 95162117 single base substitution T A 3_prime_UTR_variant LUSC-US 4 95162117 95162117 single base substitution T A exon_variant LUSC-US 4 95162117 95162117 single base substitution T A missense_variant F222Y 665T>A LUSC-US 4 95200089 95200089 single base substitution C G 3_prime_UTR_variant LUSC-US 4 95200089 95200089 single base substitution C G downstream_gene_variant LUSC-US 4 95200089 95200089 single base substitution C G missense_variant T339R 1016C>G LUSC-US 4 95200089 95200089 single base substitution C G missense_variant T769R 2306C>G LUSC-US 4 95200089 95200089 single base substitution C G missense_variant T771R 2312C>G LUSC-US 4 95201832 95201832 single base substitution G T 3_prime_UTR_variant LUSC-US 4 95201832 95201832 single base substitution G T downstream_gene_variant LUSC-US 4 95201832 95201832 single base substitution G T missense_variant Q406H 1218G>T LUSC-US 4 95201832 95201832 single base substitution G T missense_variant Q836H 2508G>T LUSC-US 4 95201832 95201832 single base substitution G T missense_variant Q838H 2514G>T LUSC-US 4 95204388 95204388 single base substitution A T 3_prime_UTR_variant LUSC-US 4 95204388 95204388 single base substitution A T missense_variant D518V 1553A>T LUSC-US 4 95204388 95204388 single base substitution A T missense_variant D948V 2843A>T LUSC-US 4 95204388 95204388 single base substitution A T missense_variant D950V 2849A>T MALY-DE 4 95136951 95136951 single base substitution G C intron_variant MALY-DE 4 95142909 95142909 single base substitution C A intron_variant MALY-DE 4 95170504 95170504 single base substitution A G intron_variant MALY-DE 4 95170504 95170504 single base substitution A G upstream_gene_variant MALY-DE 4 95173204 95173204 single base substitution T C intron_variant MALY-DE 4 95173204 95173204 single base substitution T C upstream_gene_variant MALY-DE 4 95174220 95174220 single base substitution T C intron_variant MALY-DE 4 95174220 95174220 single base substitution T C upstream_gene_variant MALY-DE 4 95184343 95184343 single base substitution T G intron_variant MALY-DE 4 95184343 95184343 single base substitution T G upstream_gene_variant MALY-DE 4 95184344 95184344 single base substitution T G intron_variant MALY-DE 4 95184344 95184344 single base substitution T G upstream_gene_variant MALY-DE 4 95186061 95186061 single base substitution A G intron_variant MALY-DE 4 95186061 95186061 single base substitution A G splice_region_variant MALY-DE 4 95186332 95186332 single base substitution A C intron_variant MALY-DE 4 95197456 95197456 single base substitution A G downstream_gene_variant MALY-DE 4 95197456 95197456 single base substitution A G intron_variant MALY-DE 4 95205028 95205028 insertion of <=200bp - A intron_variant MALY-DE 4 95207289 95207289 single base substitution T G intron_variant MALY-DE 4 95213650 95213650 single base substitution C T downstream_gene_variant MELA-AU 4 95123942 95123942 single base substitution T A upstream_gene_variant MELA-AU 4 95124147 95124147 single base substitution G A upstream_gene_variant MELA-AU 4 95124360 95124360 single base substitution G A upstream_gene_variant MELA-AU 4 95124577 95124577 single base substitution G A upstream_gene_variant MELA-AU 4 95124639 95124639 single base substitution C T upstream_gene_variant MELA-AU 4 95124864 95124864 single base substitution C T upstream_gene_variant MELA-AU 4 95125034 95125035 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 95125084 95125084 single base substitution C T upstream_gene_variant MELA-AU 4 95125104 95125104 single base substitution G A upstream_gene_variant MELA-AU 4 95125457 95125457 single base substitution C T upstream_gene_variant MELA-AU 4 95125609 95125609 single base substitution G A upstream_gene_variant MELA-AU 4 95126213 95126213 single base substitution C T upstream_gene_variant MELA-AU 4 95126789 95126789 single base substitution C T upstream_gene_variant MELA-AU 4 95126803 95126803 single base substitution C T upstream_gene_variant MELA-AU 4 95127308 95127308 single base substitution A G upstream_gene_variant MELA-AU 4 95127663 95127663 single base substitution G T upstream_gene_variant MELA-AU 4 95127704 95127704 single base substitution G A upstream_gene_variant MELA-AU 4 95127966 95127966 single base substitution G A upstream_gene_variant MELA-AU 4 95129029 95129029 single base substitution G A 5_prime_UTR_variant MELA-AU 4 95129029 95129029 single base substitution G A intron_variant MELA-AU 4 95129029 95129029 single base substitution G A upstream_gene_variant MELA-AU 4 95129229 95129229 single base substitution G A intron_variant MELA-AU 4 95129229 95129229 single base substitution G A upstream_gene_variant MELA-AU 4 95129408 95129408 single base substitution C T intron_variant MELA-AU 4 95129857 95129857 single base substitution C T intron_variant MELA-AU 4 95131245 95131245 single base substitution T C intron_variant MELA-AU 4 95131318 95131318 single base substitution T C intron_variant MELA-AU 4 95131910 95131911 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 95132459 95132459 single base substitution T C intron_variant MELA-AU 4 95132782 95132782 single base substitution C T intron_variant MELA-AU 4 95133010 95133010 single base substitution C T intron_variant MELA-AU 4 95133446 95133446 single base substitution C T intron_variant MELA-AU 4 95135254 95135254 single base substitution C T intron_variant MELA-AU 4 95136088 95136088 single base substitution C T intron_variant MELA-AU 4 95136192 95136192 single base substitution C T intron_variant MELA-AU 4 95137206 95137206 single base substitution C T intron_variant MELA-AU 4 95137321 95137321 single base substitution C T intron_variant MELA-AU 4 95137778 95137779 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 95137983 95137983 single base substitution A T intron_variant MELA-AU 4 95138479 95138479 single base substitution C T intron_variant MELA-AU 4 95138941 95138941 single base substitution T G intron_variant MELA-AU 4 95139012 95139012 single base substitution A C intron_variant MELA-AU 4 95139279 95139279 single base substitution C T intron_variant MELA-AU 4 95140461 95140461 single base substitution G A intron_variant MELA-AU 4 95140758 95140758 single base substitution A T intron_variant MELA-AU 4 95141285 95141285 single base substitution T C intron_variant MELA-AU 4 95141423 95141423 single base substitution G A intron_variant MELA-AU 4 95141489 95141489 single base substitution C A intron_variant MELA-AU 4 95141592 95141592 single base substitution T C intron_variant MELA-AU 4 95141959 95141959 deletion of <=200bp T - intron_variant MELA-AU 4 95142010 95142010 single base substitution A T intron_variant MELA-AU 4 95142522 95142522 single base substitution C T intron_variant MELA-AU 4 95142991 95142991 single base substitution C T intron_variant MELA-AU 4 95143597 95143597 single base substitution C T intron_variant MELA-AU 4 95143768 95143768 single base substitution T A intron_variant MELA-AU 4 95143770 95143770 single base substitution A T intron_variant MELA-AU 4 95143903 95143903 single base substitution C T intron_variant MELA-AU 4 95143921 95143921 single base substitution C T intron_variant MELA-AU 4 95145066 95145066 single base substitution C T intron_variant MELA-AU 4 95146120 95146120 single base substitution C T intron_variant MELA-AU 4 95146462 95146462 single base substitution C T intron_variant MELA-AU 4 95146631 95146631 single base substitution C T intron_variant MELA-AU 4 95148097 95148097 single base substitution C T intron_variant MELA-AU 4 95149341 95149341 single base substitution G A intron_variant MELA-AU 4 95149562 95149562 single base substitution C T intron_variant MELA-AU 4 95150294 95150294 single base substitution C T intron_variant MELA-AU 4 95150428 95150428 single base substitution G A intron_variant MELA-AU 4 95150450 95150450 single base substitution G T intron_variant MELA-AU 4 95150829 95150829 single base substitution C T intron_variant MELA-AU 4 95150926 95150926 single base substitution G C intron_variant MELA-AU 4 95151028 95151028 single base substitution C T intron_variant MELA-AU 4 95151318 95151318 single base substitution C T intron_variant MELA-AU 4 95153883 95153883 single base substitution C T intron_variant MELA-AU 4 95155289 95155289 single base substitution T C intron_variant MELA-AU 4 95155914 95155914 single base substitution A G intron_variant MELA-AU 4 95156177 95156177 single base substitution C T intron_variant MELA-AU 4 95156441 95156441 single base substitution T C intron_variant MELA-AU 4 95156993 95156993 single base substitution C T intron_variant MELA-AU 4 95157197 95157197 single base substitution T A intron_variant MELA-AU 4 95157396 95157396 single base substitution C T intron_variant MELA-AU 4 95157598 95157598 single base substitution C T intron_variant MELA-AU 4 95157645 95157645 single base substitution C T intron_variant MELA-AU 4 95157653 95157653 single base substitution C T intron_variant MELA-AU 4 95157680 95157680 single base substitution G A intron_variant MELA-AU 4 95157881 95157881 single base substitution G T intron_variant MELA-AU 4 95158192 95158192 single base substitution C T intron_variant MELA-AU 4 95158777 95158777 single base substitution C T intron_variant MELA-AU 4 95159545 95159545 single base substitution A T intron_variant MELA-AU 4 95161556 95161556 single base substitution C T intron_variant MELA-AU 4 95161631 95161631 single base substitution A T intron_variant MELA-AU 4 95162090 95162090 single base substitution C T 3_prime_UTR_variant MELA-AU 4 95162090 95162090 single base substitution C T exon_variant MELA-AU 4 95162090 95162090 single base substitution C T missense_variant S213F 638C>T MELA-AU 4 95162093 95162093 single base substitution C T 3_prime_UTR_variant MELA-AU 4 95162093 95162093 single base substitution C T exon_variant MELA-AU 4 95162093 95162093 single base substitution C T missense_variant S214L 641C>T MELA-AU 4 95162285 95162285 single base substitution T G intron_variant MELA-AU 4 95163437 95163437 single base substitution C T intron_variant MELA-AU 4 95163464 95163464 single base substitution G A intron_variant MELA-AU 4 95164036 95164036 single base substitution C T intron_variant MELA-AU 4 95164376 95164376 single base substitution C T intron_variant MELA-AU 4 95165154 95165155 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 95165371 95165371 single base substitution G A intron_variant MELA-AU 4 95165923 95165923 single base substitution T C intron_variant MELA-AU 4 95166759 95166759 single base substitution C T intron_variant MELA-AU 4 95167063 95167063 single base substitution G A intron_variant MELA-AU 4 95167708 95167708 single base substitution C T intron_variant MELA-AU 4 95168408 95168408 single base substitution C T intron_variant MELA-AU 4 95169720 95169720 single base substitution C T intron_variant MELA-AU 4 95169720 95169720 single base substitution C T upstream_gene_variant MELA-AU 4 95171203 95171203 single base substitution C T intron_variant MELA-AU 4 95171203 95171203 single base substitution C T upstream_gene_variant MELA-AU 4 95172396 95172396 single base substitution A G intron_variant MELA-AU 4 95172396 95172396 single base substitution A G upstream_gene_variant MELA-AU 4 95172398 95172398 single base substitution G A intron_variant MELA-AU 4 95172398 95172398 single base substitution G A upstream_gene_variant MELA-AU 4 95172856 95172861 deletion of <=200bp TTGTAT - intron_variant MELA-AU 4 95172856 95172861 deletion of <=200bp TTGTAT - upstream_gene_variant MELA-AU 4 95173093 95173094 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 95173093 95173094 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 95174339 95174339 single base substitution T G intron_variant MELA-AU 4 95174339 95174339 single base substitution T G upstream_gene_variant MELA-AU 4 95174363 95174363 single base substitution C T intron_variant MELA-AU 4 95174363 95174363 single base substitution C T upstream_gene_variant MELA-AU 4 95175093 95175093 single base substitution A T intron_variant MELA-AU 4 95175619 95175619 single base substitution T A intron_variant MELA-AU 4 95178442 95178442 single base substitution C T intron_variant MELA-AU 4 95179229 95179229 single base substitution C T intron_variant MELA-AU 4 95180569 95180569 single base substitution C T intron_variant MELA-AU 4 95181206 95181206 single base substitution C T intron_variant MELA-AU 4 95181206 95181206 single base substitution C T upstream_gene_variant MELA-AU 4 95181871 95181871 single base substitution T C intron_variant MELA-AU 4 95181871 95181871 single base substitution T C upstream_gene_variant MELA-AU 4 95182787 95182788 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 95182787 95182788 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 4 95183478 95183478 single base substitution G A intron_variant MELA-AU 4 95183478 95183478 single base substitution G A upstream_gene_variant MELA-AU 4 95184537 95184537 single base substitution C T intron_variant MELA-AU 4 95184537 95184537 single base substitution C T upstream_gene_variant MELA-AU 4 95186440 95186440 single base substitution C T intron_variant MELA-AU 4 95186489 95186489 single base substitution C T intron_variant MELA-AU 4 95188005 95188005 single base substitution C T intron_variant MELA-AU 4 95188005 95188005 single base substitution C T upstream_gene_variant MELA-AU 4 95189479 95189479 single base substitution C A intron_variant MELA-AU 4 95189479 95189479 single base substitution C A upstream_gene_variant MELA-AU 4 95189522 95189522 single base substitution A T intron_variant MELA-AU 4 95189522 95189522 single base substitution A T upstream_gene_variant MELA-AU 4 95189817 95189817 single base substitution C T intron_variant MELA-AU 4 95189817 95189817 single base substitution C T upstream_gene_variant MELA-AU 4 95191050 95191050 single base substitution C T intron_variant MELA-AU 4 95191050 95191050 single base substitution C T upstream_gene_variant MELA-AU 4 95191551 95191551 single base substitution C T intron_variant MELA-AU 4 95191551 95191551 single base substitution C T upstream_gene_variant MELA-AU 4 95191658 95191658 single base substitution T C intron_variant MELA-AU 4 95191658 95191658 single base substitution T C upstream_gene_variant MELA-AU 4 95191815 95191815 single base substitution A T exon_variant MELA-AU 4 95191815 95191815 single base substitution A T intron_variant MELA-AU 4 95192232 95192232 single base substitution C T intron_variant MELA-AU 4 95192472 95192473 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 95192753 95192753 single base substitution C T intron_variant MELA-AU 4 95193201 95193201 single base substitution G A intron_variant MELA-AU 4 95193371 95193371 single base substitution C T intron_variant MELA-AU 4 95193719 95193719 single base substitution C T intron_variant MELA-AU 4 95194113 95194113 single base substitution C T intron_variant MELA-AU 4 95195303 95195303 single base substitution C T downstream_gene_variant MELA-AU 4 95195303 95195303 single base substitution C T intron_variant MELA-AU 4 95195907 95195907 single base substitution T G 3_prime_UTR_variant MELA-AU 4 95195907 95195907 single base substitution T G downstream_gene_variant MELA-AU 4 95195907 95195907 single base substitution T G exon_variant MELA-AU 4 95195907 95195907 single base substitution T G missense_variant V134G 401T>G MELA-AU 4 95195907 95195907 single base substitution T G missense_variant V564G 1691T>G MELA-AU 4 95196449 95196449 single base substitution T C downstream_gene_variant MELA-AU 4 95196449 95196449 single base substitution T C intron_variant MELA-AU 4 95197440 95197441 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 95197440 95197441 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 4 95197527 95197527 single base substitution C T 3_prime_UTR_variant MELA-AU 4 95197527 95197527 single base substitution C T downstream_gene_variant MELA-AU 4 95197527 95197527 single base substitution C T synonymous_variant L186L 556C>T MELA-AU 4 95197527 95197527 single base substitution C T synonymous_variant L616L 1846C>T MELA-AU 4 95198500 95198500 single base substitution C T downstream_gene_variant MELA-AU 4 95198500 95198500 single base substitution C T intron_variant MELA-AU 4 95198653 95198653 single base substitution C T downstream_gene_variant MELA-AU 4 95198653 95198653 single base substitution C T intron_variant MELA-AU 4 95198933 95198933 single base substitution C T downstream_gene_variant MELA-AU 4 95198933 95198933 single base substitution C T intron_variant MELA-AU 4 95199176 95199176 single base substitution C T downstream_gene_variant MELA-AU 4 95199176 95199176 single base substitution C T intron_variant MELA-AU 4 95199543 95199543 single base substitution C T downstream_gene_variant MELA-AU 4 95199543 95199543 single base substitution C T intron_variant MELA-AU 4 95201464 95201464 single base substitution C T downstream_gene_variant MELA-AU 4 95201464 95201464 single base substitution C T intron_variant MELA-AU 4 95202304 95202304 single base substitution C T downstream_gene_variant MELA-AU 4 95202304 95202304 single base substitution C T intron_variant MELA-AU 4 95202463 95202463 single base substitution C T downstream_gene_variant MELA-AU 4 95202463 95202463 single base substitution C T intron_variant MELA-AU 4 95202618 95202618 single base substitution C T downstream_gene_variant MELA-AU 4 95202618 95202618 single base substitution C T splice_region_variant MELA-AU 4 95203190 95203190 single base substitution C T downstream_gene_variant MELA-AU 4 95203190 95203190 single base substitution C T intron_variant MELA-AU 4 95203635 95203635 single base substitution C T intron_variant MELA-AU 4 95204371 95204373 deletion of <=200bp TGT - 3_prime_UTR_variant MELA-AU 4 95204371 95204373 deletion of <=200bp TGT - inframe_deletion NV512N MELA-AU 4 95204371 95204373 deletion of <=200bp TGT - inframe_deletion NV942N MELA-AU 4 95204371 95204373 deletion of <=200bp TGT - inframe_deletion NV944N MELA-AU 4 95204435 95204435 single base substitution C T 3_prime_UTR_variant MELA-AU 4 95204435 95204435 single base substitution C T missense_variant H534Y 1600C>T MELA-AU 4 95204435 95204435 single base substitution C T missense_variant H964Y 2890C>T MELA-AU 4 95204435 95204435 single base substitution C T missense_variant H966Y 2896C>T MELA-AU 4 95204801 95204801 single base substitution C T intron_variant MELA-AU 4 95205504 95205504 single base substitution A G intron_variant MELA-AU 4 95208038 95208038 single base substitution C T intron_variant MELA-AU 4 95208206 95208206 single base substitution G A intron_variant MELA-AU 4 95208214 95208214 single base substitution A G intron_variant MELA-AU 4 95209247 95209247 single base substitution C T intron_variant MELA-AU 4 95209527 95209527 single base substitution C T intron_variant MELA-AU 4 95209561 95209561 single base substitution A T intron_variant MELA-AU 4 95209562 95209562 single base substitution T A intron_variant MELA-AU 4 95211497 95211497 single base substitution C T 3_prime_UTR_variant MELA-AU 4 95211497 95211497 single base substitution C T downstream_gene_variant MELA-AU 4 95211706 95211706 single base substitution A G 3_prime_UTR_variant MELA-AU 4 95211706 95211706 single base substitution A G downstream_gene_variant MELA-AU 4 95212337 95212337 single base substitution T G 3_prime_UTR_variant MELA-AU 4 95212337 95212337 single base substitution T G downstream_gene_variant MELA-AU 4 95212637 95212637 single base substitution C T downstream_gene_variant MELA-AU 4 95213136 95213136 single base substitution C T downstream_gene_variant MELA-AU 4 95213155 95213155 single base substitution G T downstream_gene_variant MELA-AU 4 95213361 95213361 single base substitution A C downstream_gene_variant MELA-AU 4 95213892 95213892 single base substitution C T downstream_gene_variant MELA-AU 4 95214147 95214147 single base substitution C T downstream_gene_variant MELA-AU 4 95214273 95214273 single base substitution C T downstream_gene_variant MELA-AU 4 95215270 95215270 single base substitution G C downstream_gene_variant MELA-AU 4 95215832 95215832 single base substitution C T downstream_gene_variant MELA-AU 4 95217011 95217011 single base substitution A T downstream_gene_variant MELA-AU 4 95217118 95217118 single base substitution G A downstream_gene_variant ORCA-IN 4 95124492 95124492 single base substitution G A upstream_gene_variant ORCA-IN 4 95125355 95125355 single base substitution C G upstream_gene_variant ORCA-IN 4 95147658 95147658 deletion of <=200bp A - intron_variant ORCA-IN 4 95198725 95198725 single base substitution G A downstream_gene_variant ORCA-IN 4 95198725 95198725 single base substitution G A intron_variant ORCA-IN 4 95199663 95199663 single base substitution G C 3_prime_UTR_variant ORCA-IN 4 95199663 95199663 single base substitution G C downstream_gene_variant ORCA-IN 4 95199663 95199663 single base substitution G C missense_variant E295Q 883G>C ORCA-IN 4 95199663 95199663 single base substitution G C missense_variant E725Q 2173G>C OV-AU 4 95131631 95131631 single base substitution A G intron_variant OV-AU 4 95133742 95133742 single base substitution A G intron_variant OV-AU 4 95145669 95145669 single base substitution C T intron_variant OV-AU 4 95157712 95157712 single base substitution T G intron_variant OV-AU 4 95158103 95158103 single base substitution T A missense_variant L180M 538T>A OV-AU 4 95158103 95158103 single base substitution T A splice_region_variant OV-AU 4 95168147 95168147 single base substitution A C intron_variant OV-AU 4 95182111 95182111 single base substitution T C intron_variant OV-AU 4 95182111 95182111 single base substitution T C upstream_gene_variant OV-AU 4 95187136 95187136 single base substitution A G intron_variant OV-AU 4 95187136 95187136 single base substitution A G upstream_gene_variant OV-AU 4 95187682 95187682 single base substitution T C intron_variant OV-AU 4 95187682 95187682 single base substitution T C upstream_gene_variant OV-AU 4 95195775 95195775 single base substitution A G downstream_gene_variant OV-AU 4 95195775 95195775 single base substitution A G intron_variant OV-AU 4 95206455 95206455 single base substitution A C intron_variant OV-US 4 95155254 95155254 single base substitution G A 3_prime_UTR_variant OV-US 4 95155254 95155254 single base substitution G A exon_variant OV-US 4 95155254 95155254 single base substitution G A missense_variant S173N 518G>A PACA-AU 4 95127845 95127845 single base substitution G A upstream_gene_variant PACA-AU 4 95143813 95143813 single base substitution G C intron_variant PACA-AU 4 95158718 95158719 deletion of <=200bp CA - intron_variant PACA-AU 4 95167037 95167037 single base substitution T G intron_variant PACA-AU 4 95174132 95174132 single base substitution C T 3_prime_UTR_variant PACA-AU 4 95174132 95174132 single base substitution C T missense_variant R419W 1255C>T PACA-AU 4 95174132 95174132 single base substitution C T upstream_gene_variant PACA-AU 4 95184159 95184159 single base substitution G C intron_variant PACA-AU 4 95184159 95184159 single base substitution G C upstream_gene_variant PACA-AU 4 95184348 95184348 single base substitution G T intron_variant PACA-AU 4 95184348 95184348 single base substitution G T upstream_gene_variant PACA-AU 4 95190494 95190494 single base substitution G A intron_variant PACA-AU 4 95190494 95190494 single base substitution G A upstream_gene_variant PACA-AU 4 95192088 95192088 single base substitution C T intron_variant PACA-AU 4 95192611 95192611 single base substitution T G intron_variant PACA-AU 4 95194548 95194548 single base substitution A T intron_variant PACA-AU 4 95195769 95195769 single base substitution G C downstream_gene_variant PACA-AU 4 95195769 95195769 single base substitution G C intron_variant PACA-AU 4 95203259 95203259 single base substitution T G downstream_gene_variant PACA-AU 4 95203259 95203259 single base substitution T G intron_variant PACA-AU 4 95203852 95203852 single base substitution G T intron_variant PACA-AU 4 95204933 95204933 single base substitution C T intron_variant PACA-AU 4 95210144 95210144 single base substitution G A intron_variant PACA-CA 4 95124552 95124552 single base substitution A G upstream_gene_variant PACA-CA 4 95127342 95127342 single base substitution T C upstream_gene_variant PACA-CA 4 95131262 95131262 single base substitution T C intron_variant PACA-CA 4 95133526 95133526 single base substitution A G intron_variant PACA-CA 4 95136776 95136776 insertion of <=200bp - GG intron_variant PACA-CA 4 95137892 95137892 single base substitution T A intron_variant PACA-CA 4 95138641 95138641 deletion of <=200bp T - intron_variant PACA-CA 4 95151013 95151013 single base substitution G A intron_variant PACA-CA 4 95155432 95155432 single base substitution G C intron_variant PACA-CA 4 95158178 95158178 single base substitution G C intron_variant PACA-CA 4 95161852 95161852 single base substitution A G intron_variant PACA-CA 4 95172014 95172014 single base substitution A G intron_variant PACA-CA 4 95172014 95172014 single base substitution A G upstream_gene_variant PACA-CA 4 95173325 95173325 single base substitution G A intron_variant PACA-CA 4 95173325 95173325 single base substitution G A upstream_gene_variant PACA-CA 4 95188750 95188750 single base substitution C A intron_variant PACA-CA 4 95188750 95188750 single base substitution C A upstream_gene_variant PACA-CA 4 95200553 95200553 single base substitution A T downstream_gene_variant PACA-CA 4 95200553 95200553 single base substitution A T intron_variant PACA-CA 4 95201314 95201314 single base substitution C G downstream_gene_variant PACA-CA 4 95201314 95201314 single base substitution C G intron_variant PACA-CA 4 95203542 95203542 single base substitution C T intron_variant PACA-CA 4 95203594 95203594 single base substitution C T intron_variant PACA-CA 4 95204702 95204702 single base substitution C T intron_variant PACA-CA 4 95206876 95206876 single base substitution A G intron_variant PACA-CA 4 95212849 95212849 single base substitution A G downstream_gene_variant PAEN-AU 4 95130788 95130788 single base substitution C A intron_variant PAEN-AU 4 95139127 95139127 single base substitution C T intron_variant PAEN-AU 4 95139162 95139162 single base substitution G T intron_variant PAEN-AU 4 95141100 95141100 single base substitution G A intron_variant PAEN-AU 4 95148369 95148369 single base substitution G T intron_variant PAEN-AU 4 95159194 95159194 single base substitution G A intron_variant PAEN-AU 4 95186006 95186006 single base substitution C T 3_prime_UTR_variant PAEN-AU 4 95186006 95186006 single base substitution C T exon_variant PAEN-AU 4 95186006 95186006 single base substitution C T missense_variant T477I 1430C>T PAEN-AU 4 95186006 95186006 single base substitution C T missense_variant T47I 140C>T PAEN-AU 4 95199147 95199147 single base substitution A G downstream_gene_variant PAEN-AU 4 95199147 95199147 single base substitution A G intron_variant PAEN-IT 4 95202988 95202988 single base substitution A G downstream_gene_variant PAEN-IT 4 95202988 95202988 single base substitution A G intron_variant PAEN-IT 4 95215153 95215153 single base substitution G C downstream_gene_variant PBCA-DE 4 95128697 95128697 single base substitution G A upstream_gene_variant PBCA-DE 4 95146495 95146495 single base substitution T G intron_variant PBCA-DE 4 95149786 95149786 insertion of <=200bp - A intron_variant PBCA-DE 4 95165368 95165368 single base substitution A G intron_variant PBCA-DE 4 95171297 95171297 single base substitution A T intron_variant PBCA-DE 4 95171297 95171297 single base substitution A T upstream_gene_variant PBCA-DE 4 95177671 95177671 single base substitution A G intron_variant PBCA-DE 4 95187977 95187977 single base substitution C A intron_variant PBCA-DE 4 95187977 95187977 single base substitution C A upstream_gene_variant PBCA-DE 4 95200080 95200080 insertion of <=200bp - A 3_prime_UTR_variant PBCA-DE 4 95200080 95200080 insertion of <=200bp - A downstream_gene_variant PBCA-DE 4 95200080 95200080 insertion of <=200bp - A frameshift_variant E336E? PBCA-DE 4 95200080 95200080 insertion of <=200bp - A frameshift_variant E766E? PBCA-DE 4 95200080 95200080 insertion of <=200bp - A frameshift_variant E768E? PBCA-DE 4 95203853 95203853 deletion of <=200bp T - intron_variant PBCA-DE 4 95206934 95206934 single base substitution G C intron_variant PRAD-CA 4 95140224 95140224 single base substitution A G intron_variant PRAD-CA 4 95147464 95147464 single base substitution A T intron_variant PRAD-CA 4 95163909 95163909 single base substitution A T intron_variant PRAD-CA 4 95193550 95193550 single base substitution A C intron_variant PRAD-CA 4 95199966 95199966 single base substitution G A downstream_gene_variant PRAD-CA 4 95199966 95199966 single base substitution G A intron_variant PRAD-UK 4 95129924 95129924 single base substitution C T intron_variant PRAD-UK 4 95137339 95137339 single base substitution C T intron_variant PRAD-UK 4 95144730 95144730 single base substitution T G intron_variant PRAD-UK 4 95151739 95151739 single base substitution T C intron_variant PRAD-UK 4 95170201 95170201 single base substitution T G intron_variant PRAD-UK 4 95170201 95170201 single base substitution T G upstream_gene_variant PRAD-UK 4 95179445 95179445 single base substitution A G intron_variant PRAD-UK 4 95188058 95188058 single base substitution T C intron_variant PRAD-UK 4 95188058 95188058 single base substitution T C upstream_gene_variant PRAD-UK 4 95188059 95188059 single base substitution C T intron_variant PRAD-UK 4 95188059 95188059 single base substitution C T upstream_gene_variant PRAD-UK 4 95212184 95212184 single base substitution C T 3_prime_UTR_variant PRAD-UK 4 95212184 95212184 single base substitution C T downstream_gene_variant PRAD-UK 4 95213459 95213459 deletion of <=200bp A - downstream_gene_variant READ-US 4 95173839 95173839 single base substitution A C 3_prime_UTR_variant READ-US 4 95173839 95173839 single base substitution A C missense_variant K321T 962A>C READ-US 4 95173839 95173839 single base substitution A C upstream_gene_variant READ-US 4 95201809 95201809 single base substitution G A 3_prime_UTR_variant READ-US 4 95201809 95201809 single base substitution G A downstream_gene_variant READ-US 4 95201809 95201809 single base substitution G A missense_variant E399K 1195G>A READ-US 4 95201809 95201809 single base substitution G A missense_variant E829K 2485G>A READ-US 4 95201809 95201809 single base substitution G A missense_variant E831K 2491G>A READ-US 4 95201845 95201845 single base substitution A C 3_prime_UTR_variant READ-US 4 95201845 95201845 single base substitution A C downstream_gene_variant READ-US 4 95201845 95201845 single base substitution A C missense_variant N411H 1231A>C READ-US 4 95201845 95201845 single base substitution A C missense_variant N841H 2521A>C READ-US 4 95201845 95201845 single base substitution A C missense_variant N843H 2527A>C RECA-EU 4 95124145 95124145 single base substitution T A upstream_gene_variant RECA-EU 4 95131199 95131199 single base substitution C T intron_variant RECA-EU 4 95149901 95149901 single base substitution C T intron_variant RECA-EU 4 95154421 95154421 single base substitution G C intron_variant RECA-EU 4 95161591 95161591 single base substitution A T intron_variant RECA-EU 4 95163602 95163602 single base substitution A G intron_variant RECA-EU 4 95165664 95165664 single base substitution C G intron_variant RECA-EU 4 95200004 95200004 single base substitution T C downstream_gene_variant RECA-EU 4 95200004 95200004 single base substitution T C intron_variant RECA-EU 4 95205504 95205504 single base substitution A G intron_variant SKCA-BR 4 95125981 95125981 single base substitution A C upstream_gene_variant SKCA-BR 4 95131665 95131665 single base substitution G A intron_variant SKCA-BR 4 95133003 95133003 single base substitution C T intron_variant SKCA-BR 4 95133036 95133036 single base substitution A C intron_variant SKCA-BR 4 95133051 95133051 single base substitution A C intron_variant SKCA-BR 4 95134083 95134083 single base substitution C T intron_variant SKCA-BR 4 95136597 95136597 single base substitution C A intron_variant SKCA-BR 4 95138916 95138916 single base substitution C T intron_variant SKCA-BR 4 95140750 95140750 single base substitution C T intron_variant SKCA-BR 4 95140980 95140980 single base substitution C T intron_variant SKCA-BR 4 95144981 95144981 single base substitution C T intron_variant SKCA-BR 4 95154708 95154708 single base substitution T C intron_variant SKCA-BR 4 95155659 95155659 single base substitution A C intron_variant SKCA-BR 4 95158275 95158275 single base substitution C A intron_variant SKCA-BR 4 95162813 95162813 single base substitution T A intron_variant SKCA-BR 4 95163892 95163892 insertion of <=200bp - CAA intron_variant SKCA-BR 4 95163910 95163910 single base substitution T A intron_variant SKCA-BR 4 95165360 95165360 single base substitution G A intron_variant SKCA-BR 4 95167098 95167098 single base substitution C T intron_variant SKCA-BR 4 95167568 95167568 single base substitution C T intron_variant SKCA-BR 4 95173295 95173295 single base substitution C G intron_variant SKCA-BR 4 95173295 95173295 single base substitution C G upstream_gene_variant SKCA-BR 4 95173796 95173796 single base substitution C T 3_prime_UTR_variant SKCA-BR 4 95173796 95173796 single base substitution C T missense_variant P307S 919C>T SKCA-BR 4 95173796 95173796 single base substitution C T upstream_gene_variant SKCA-BR 4 95181446 95181446 single base substitution A T intron_variant SKCA-BR 4 95181446 95181446 single base substitution A T upstream_gene_variant SKCA-BR 4 95183216 95183216 single base substitution C T intron_variant SKCA-BR 4 95183216 95183216 single base substitution C T upstream_gene_variant SKCA-BR 4 95186551 95186551 single base substitution G A intron_variant SKCA-BR 4 95189923 95189923 single base substitution C T intron_variant SKCA-BR 4 95189923 95189923 single base substitution C T upstream_gene_variant SKCA-BR 4 95191318 95191318 single base substitution T A intron_variant SKCA-BR 4 95191318 95191318 single base substitution T A upstream_gene_variant SKCA-BR 4 95192680 95192680 single base substitution G A intron_variant SKCA-BR 4 95198132 95198132 single base substitution C T downstream_gene_variant SKCA-BR 4 95198132 95198132 single base substitution C T intron_variant SKCA-BR 4 95198932 95198932 single base substitution C T downstream_gene_variant SKCA-BR 4 95198932 95198932 single base substitution C T intron_variant SKCA-BR 4 95203114 95203114 single base substitution C T downstream_gene_variant SKCA-BR 4 95203114 95203114 single base substitution C T intron_variant SKCA-BR 4 95203250 95203250 insertion of <=200bp - TTTTG downstream_gene_variant SKCA-BR 4 95203250 95203250 insertion of <=200bp - TTTTG intron_variant SKCA-BR 4 95203250 95203250 insertion of <=200bp - TTTTTG downstream_gene_variant SKCA-BR 4 95203250 95203250 insertion of <=200bp - TTTTTG intron_variant SKCA-BR 4 95203252 95203252 insertion of <=200bp - TTGTTTTTG downstream_gene_variant SKCA-BR 4 95203252 95203252 insertion of <=200bp - TTGTTTTTG intron_variant SKCM-US 4 95147328 95147328 single base substitution C T 3_prime_UTR_variant SKCM-US 4 95147328 95147328 single base substitution C T exon_variant SKCM-US 4 95147328 95147328 single base substitution C T synonymous_variant F83F 249C>T SKCM-US 4 95147382 95147382 single base substitution C T 3_prime_UTR_variant SKCM-US 4 95147382 95147382 single base substitution C T exon_variant SKCM-US 4 95147382 95147382 single base substitution C T synonymous_variant V101V 303C>T SKCM-US 4 95147387 95147387 single base substitution C T 3_prime_UTR_variant SKCM-US 4 95147387 95147387 single base substitution C T exon_variant SKCM-US 4 95147387 95147387 single base substitution C T missense_variant S103F 308C>T SKCM-US 4 95162093 95162093 single base substitution C T 3_prime_UTR_variant SKCM-US 4 95162093 95162093 single base substitution C T exon_variant SKCM-US 4 95162093 95162093 single base substitution C T missense_variant S214L 641C>T SKCM-US 4 95174054 95174054 single base substitution C T 3_prime_UTR_variant SKCM-US 4 95174054 95174054 single base substitution C T missense_variant L393F 1177C>T SKCM-US 4 95174054 95174054 single base substitution C T upstream_gene_variant SKCM-US 4 95194771 95194771 single base substitution C T 3_prime_UTR_variant SKCM-US 4 95194771 95194771 single base substitution C T exon_variant SKCM-US 4 95194771 95194771 single base substitution C T synonymous_variant L526L 1576C>T SKCM-US 4 95194771 95194771 single base substitution C T synonymous_variant L96L 286C>T SKCM-US 4 95194801 95194801 single base substitution C T 3_prime_UTR_variant SKCM-US 4 95194801 95194801 single base substitution C T exon_variant SKCM-US 4 95194801 95194801 single base substitution C T synonymous_variant L106L 316C>T SKCM-US 4 95194801 95194801 single base substitution C T synonymous_variant L536L 1606C>T SKCM-US 4 95197527 95197527 single base substitution C T 3_prime_UTR_variant SKCM-US 4 95197527 95197527 single base substitution C T downstream_gene_variant SKCM-US 4 95197527 95197527 single base substitution C T synonymous_variant L186L 556C>T SKCM-US 4 95197527 95197527 single base substitution C T synonymous_variant L616L 1846C>T SKCM-US 4 95201808 95201808 single base substitution C T 3_prime_UTR_variant SKCM-US 4 95201808 95201808 single base substitution C T downstream_gene_variant SKCM-US 4 95201808 95201808 single base substitution C T synonymous_variant F398F 1194C>T SKCM-US 4 95201808 95201808 single base substitution C T synonymous_variant F828F 2484C>T SKCM-US 4 95201808 95201808 single base substitution C T synonymous_variant F830F 2490C>T SKCM-US 4 95201837 95201837 single base substitution G A 3_prime_UTR_variant SKCM-US 4 95201837 95201837 single base substitution G A downstream_gene_variant SKCM-US 4 95201837 95201837 single base substitution G A missense_variant R408Q 1223G>A SKCM-US 4 95201837 95201837 single base substitution G A missense_variant R838Q 2513G>A SKCM-US 4 95201837 95201837 single base substitution G A missense_variant R840Q 2519G>A SKCM-US 4 95204435 95204435 single base substitution C T 3_prime_UTR_variant SKCM-US 4 95204435 95204435 single base substitution C T missense_variant H534Y 1600C>T SKCM-US 4 95204435 95204435 single base substitution C T missense_variant H964Y 2890C>T SKCM-US 4 95204435 95204435 single base substitution C T missense_variant H966Y 2896C>T SKCM-US 4 95206159 95206159 single base substitution C T 3_prime_UTR_variant SKCM-US 4 95206159 95206159 single base substitution C T synonymous_variant S556S 1668C>T SKCM-US 4 95206159 95206159 single base substitution C T synonymous_variant S986S 2958C>T SKCM-US 4 95206159 95206159 single base substitution C T synonymous_variant S988S 2964C>T STAD-US 4 95129604 95129604 single base substitution C T exon_variant STAD-US 4 95129604 95129604 single base substitution C T missense_variant A20V 59C>T STAD-US 4 95158115 95158115 single base substitution A G 3_prime_UTR_variant STAD-US 4 95158115 95158115 single base substitution A G exon_variant STAD-US 4 95158115 95158115 single base substitution A G missense_variant T184A 550A>G STAD-US 4 95162126 95162126 single base substitution A T 3_prime_UTR_variant STAD-US 4 95162126 95162126 single base substitution A T exon_variant STAD-US 4 95162126 95162126 single base substitution A T missense_variant D225V 674A>T STAD-US 4 95173910 95173910 insertion of <=200bp - A 3_prime_UTR_variant STAD-US 4 95173910 95173910 insertion of <=200bp - A frameshift_variant K345K? STAD-US 4 95173910 95173910 insertion of <=200bp - A upstream_gene_variant STAD-US 4 95174135 95174135 single base substitution C T 3_prime_UTR_variant STAD-US 4 95174135 95174135 single base substitution C T missense_variant P420S 1258C>T STAD-US 4 95174135 95174135 single base substitution C T upstream_gene_variant STAD-US 4 95185970 95185970 single base substitution T A 3_prime_UTR_variant STAD-US 4 95185970 95185970 single base substitution T A exon_variant STAD-US 4 95185970 95185970 single base substitution T A missense_variant I35N 104T>A STAD-US 4 95185970 95185970 single base substitution T A missense_variant I465N 1394T>A STAD-US 4 95191964 95191964 single base substitution G T 3_prime_UTR_variant STAD-US 4 95191964 95191964 single base substitution G T exon_variant STAD-US 4 95191964 95191964 single base substitution G T stop_gained E523* 1567G>T STAD-US 4 95191964 95191964 single base substitution G T stop_gained E93* 277G>T STAD-US 4 95198191 95198191 single base substitution C T 3_prime_UTR_variant STAD-US 4 95198191 95198191 single base substitution C T downstream_gene_variant STAD-US 4 95198191 95198191 single base substitution C T missense_variant L225F 673C>T STAD-US 4 95198191 95198191 single base substitution C T missense_variant L655F 1963C>T STAD-US 4 95199819 95199819 single base substitution C T 3_prime_UTR_variant STAD-US 4 95199819 95199819 single base substitution C T downstream_gene_variant STAD-US 4 95199819 95199819 single base substitution C T missense_variant S314L 941C>T STAD-US 4 95199819 95199819 single base substitution C T missense_variant S744L 2231C>T THCA-SA 4 95147437 95147437 single base substitution G T 3_prime_UTR_variant THCA-SA 4 95147437 95147437 single base substitution G T exon_variant THCA-SA 4 95147437 95147437 single base substitution G T missense_variant V120L 358G>T THCA-SA 4 95170839 95170839 single base substitution G A 3_prime_UTR_variant THCA-SA 4 95170839 95170839 single base substitution G A missense_variant S247N 740G>A THCA-SA 4 95170839 95170839 single base substitution G A upstream_gene_variant THCA-SA 4 95186055 95186055 single base substitution A G splice_region_variant THCA-SA 4 95204421 95204421 single base substitution C A 3_prime_UTR_variant THCA-SA 4 95204421 95204421 single base substitution C A missense_variant A529E 1586C>A THCA-SA 4 95204421 95204421 single base substitution C A missense_variant A959E 2876C>A THCA-SA 4 95204421 95204421 single base substitution C A missense_variant A961E 2882C>A THCA-SA 4 95212185 95212185 single base substitution A G 3_prime_UTR_variant THCA-SA 4 95212185 95212185 single base substitution A G downstream_gene_variant UCEC-US 4 95147397 95147397 single base substitution C A 3_prime_UTR_variant UCEC-US 4 95147397 95147397 single base substitution C A exon_variant UCEC-US 4 95147397 95147397 single base substitution C A stop_gained C106* 318C>A UCEC-US 4 95147443 95147443 single base substitution A G 3_prime_UTR_variant UCEC-US 4 95147443 95147443 single base substitution A G exon_variant UCEC-US 4 95147443 95147443 single base substitution A G missense_variant I122V 364A>G UCEC-US 4 95162065 95162065 single base substitution C T 3_prime_UTR_variant UCEC-US 4 95162065 95162065 single base substitution C T exon_variant UCEC-US 4 95162065 95162065 single base substitution C T missense_variant P205S 613C>T UCEC-US 4 95173975 95173975 single base substitution C T 3_prime_UTR_variant UCEC-US 4 95173975 95173975 single base substitution C T synonymous_variant V366V 1098C>T UCEC-US 4 95173975 95173975 single base substitution C T upstream_gene_variant UCEC-US 4 95174064 95174064 single base substitution C A 3_prime_UTR_variant UCEC-US 4 95174064 95174064 single base substitution C A missense_variant A396D 1187C>A UCEC-US 4 95174064 95174064 single base substitution C A upstream_gene_variant UCEC-US 4 95174078 95174078 single base substitution C T 3_prime_UTR_variant UCEC-US 4 95174078 95174078 single base substitution C T missense_variant L401F 1201C>T UCEC-US 4 95174078 95174078 single base substitution C T upstream_gene_variant UCEC-US 4 95185996 95185996 single base substitution A G 3_prime_UTR_variant UCEC-US 4 95185996 95185996 single base substitution A G exon_variant UCEC-US 4 95185996 95185996 single base substitution A G missense_variant T44A 130A>G UCEC-US 4 95185996 95185996 single base substitution A G missense_variant T474A 1420A>G UCEC-US 4 95194801 95194801 single base substitution C A 3_prime_UTR_variant UCEC-US 4 95194801 95194801 single base substitution C A exon_variant UCEC-US 4 95194801 95194801 single base substitution C A missense_variant L106M 316C>A UCEC-US 4 95194801 95194801 single base substitution C A missense_variant L536M 1606C>A UCEC-US 4 95198216 95198216 single base substitution A C 3_prime_UTR_variant UCEC-US 4 95198216 95198216 single base substitution A C downstream_gene_variant UCEC-US 4 95198216 95198216 single base substitution A C missense_variant N233T 698A>C UCEC-US 4 95198216 95198216 single base substitution A C missense_variant N663T 1988A>C UCEC-US 4 95199797 95199797 single base substitution C T 3_prime_UTR_variant UCEC-US 4 95199797 95199797 single base substitution C T downstream_gene_variant UCEC-US 4 95199797 95199797 single base substitution C T stop_gained R307* 919C>T UCEC-US 4 95199797 95199797 single base substitution C T stop_gained R737* 2209C>T UCEC-US 4 95199807 95199807 single base substitution T C 3_prime_UTR_variant UCEC-US 4 95199807 95199807 single base substitution T C downstream_gene_variant UCEC-US 4 95199807 95199807 single base substitution T C missense_variant L310S 929T>C UCEC-US 4 95199807 95199807 single base substitution T C missense_variant L740S 2219T>C UCEC-US 4 95200148 95200148 single base substitution C T 3_prime_UTR_variant UCEC-US 4 95200148 95200148 single base substitution C T downstream_gene_variant UCEC-US 4 95200148 95200148 single base substitution C T missense_variant R359C 1075C>T UCEC-US 4 95200148 95200148 single base substitution C T missense_variant R789C 2365C>T UCEC-US 4 95200148 95200148 single base substitution C T missense_variant R791C 2371C>T UCEC-US 4 95201785 95201785 single base substitution G C 3_prime_UTR_variant UCEC-US 4 95201785 95201785 single base substitution G C downstream_gene_variant UCEC-US 4 95201785 95201785 single base substitution G C missense_variant D391H 1171G>C UCEC-US 4 95201785 95201785 single base substitution G C missense_variant D821H 2461G>C UCEC-US 4 95201785 95201785 single base substitution G C missense_variant D823H 2467G>C UCEC-US 4 95201893 95201893 single base substitution C T 3_prime_UTR_variant UCEC-US 4 95201893 95201893 single base substitution C T downstream_gene_variant UCEC-US 4 95201893 95201893 single base substitution C T stop_gained R427* 1279C>T UCEC-US 4 95201893 95201893 single base substitution C T stop_gained R857* 2569C>T UCEC-US 4 95201893 95201893 single base substitution C T stop_gained R859* 2575C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand RK308_C01 COSM3768059 c.507T>C p.F169F Substitution - coding silent 4:94234092-94234092 + pfg068T COSM4747639 c.961delA p.N322fs*7 Deletion - Frameshift 4:94252687-94252687 + TCGA-D3-A5GS-06 COSM3607094 c.308C>T p.S103F Substitution - Missense 4:94226236-94226236 + S01542 COSM5669706 c.1257G>A p.R419R Substitution - coding silent 4:94252983-94252983 + T222 COSM4728304 c.1748G>A p.R583H Substitution - Missense 4:94274905-94274905 + T96 COSM4728307 c.2454C>T p.I818I Substitution - coding silent 4:94280627-94280627 + TCGA-AP-A0LM-01 COSM1059033 c.1187C>A p.A396D Substitution - Missense 4:94252913-94252913 + TCGA-ER-A19F-06 COSM3918375 c.2484C>T p.F828F Substitution - coding silent 4:94280657-94280657 + TC71 COSM2988886 c.3008C>A p.T1003K Substitution - Missense 4:94285058-94285058 + TCGA-CJ-6031-01 COSM481688 c.1700G>T p.W567L Substitution - Missense 4:94274765-94274765 + ESO-H01 COSM1266242 c.741T>C p.S247S Substitution - coding silent 4:94249689-94249689 + TCGA-EE-A2MD-06 COSM3607099 c.2890C>T p.H964Y Substitution - Missense 4:94283284-94283284 + sysucc-274T COSM5476544 c.2945C>T p.T982M Substitution - Missense 4:94284995-94284995 + TCGA-EI-6917-01 COSM3428781 c.962A>C p.K321T Substitution - Missense 4:94252688-94252688 + TCGA-C8-A26Y-01 COSM3826451 c.1065T>G p.V355V Substitution - coding silent 4:94252791-94252791 + BD197T COSM3661271 c.1192A>G p.I398V Substitution - Missense 4:94252918-94252918 + T14 COSM5617850 c.388G>A p.E130K Substitution - Missense 4:94233973-94233973 + TCGA-BS-A0UV-01 COSM1059048 c.2219T>C p.L740S Substitution - Missense 4:94278656-94278656 + TCGA-A3-3380-01 COSM1495884 c.538-2A>T p.? Unknown 4:94236950-94236950 + PT48 COSM5866962 c.422G>A p.R141K Substitution - Missense 4:94234007-94234007 + SNUH_G16_S1 COSM1130990 c.740G>A p.S247N Substitution - Missense 4:94249688-94249688 + HCC2998 COSM1671144 c.1229A>C p.K410T Substitution - Missense 4:94252955-94252955 + LP6005409-DNA_B04 COSM3768061 c.1872C>T p.Y624Y Substitution - coding silent 4:94276402-94276402 + TCGA-AP-A0LM-01 COSM1059038 c.1420A>G p.T474A Substitution - Missense 4:94264845-94264845 + 28 COSM1431833 c.902T>C p.V301A Substitution - Missense 4:94252628-94252628 + LS180 COSM1431835 c.1033delA p.N347fs*24 Deletion - Frameshift 4:94252759-94252759 + CCC6T COSM3661271 c.1192A>G p.I398V Substitution - Missense 4:94252918-94252918 + 3101B7_035_T COSM5038644 c.763_773del11 p.V256fs*8 Deletion - Frameshift 4:94249711-94249721 + TCGA-BR-6452-01 COSM4126773 c.674A>T p.D225V Substitution - Missense 4:94240975-94240975 + S02397 COSM5699311 c.2437G>T p.A813S Substitution - Missense 4:94280610-94280610 + TCGA-CD-A4MI-01 COSM4126777 c.1394T>A p.I465N Substitution - Missense 4:94264819-94264819 + C126 COSM1059050 c.2365C>T p.R789C Substitution - Missense 4:94278997-94278997 + T3118 COSM4728308 c.3060delA p.T1022fs*>5 Deletion - Frameshift 4:94289513-94289513 + TCGA-EE-A3AA-06 COSM2988829 c.641C>T p.S214L Substitution - Missense 4:94240942-94240942 + Gp5D COSM1431835 c.1033delA p.N347fs*24 Deletion - Frameshift 4:94252759-94252759 + T2950 COSM4728302 c.1553G>A p.G518D Substitution - Missense 4:94270799-94270799 + BD6T COSM1431835 c.1033delA p.N347fs*24 Deletion - Frameshift 4:94252759-94252759 + AOCS-064-1-6 COSM4138556 c.538T>A p.L180M Substitution - Missense 4:94236952-94236952 + 2492720 COSM5723738 c.76C>T p.Q26* Substitution - Nonsense 4:94208470-94208470 + Gp2D COSM1431835 c.1033delA p.N347fs*24 Deletion - Frameshift 4:94252759-94252759 + TCGA-13-0924-01 COSM76525 c.518G>A p.S173N Substitution - Missense 4:94234103-94234103 + TCGA-CG-5721-01 COSM4126771 c.550A>G p.T184A Substitution - Missense 4:94236964-94236964 + TCGA-EI-6917-01 COSM3428783 c.2521A>C p.N841H Substitution - Missense 4:94280694-94280694 + TCGA-AA-A00N-01 COSM277381 c.28C>T p.R10C Substitution - Missense 4:94208422-94208422 + HCC2998 COSM2988831 c.695G>A p.R232K Substitution - Missense 4:94240996-94240996 + TCGA-FS-A4F0-06 COSM3918373 c.1576C>T p.L526L Substitution - coding silent 4:94273620-94273620 + TCGA-BT-A20J-01 COSM420474 c.388G>C p.E130Q Substitution - Missense 4:94233973-94233973 + TCGA-AD-6889-01 COSM1431835 c.1033delA p.N347fs*24 Deletion - Frameshift 4:94252759-94252759 + 526LT COSM1130990 c.740G>A p.S247N Substitution - Missense 4:94249688-94249688 + TCGA-AA-A010-01 COSM285200 c.2260C>A p.L754I Substitution - Missense 4:94278697-94278697 + OSCC-GB_00070111 COSM3714915 c.2173G>C p.E725Q Substitution - Missense 4:94278512-94278512 + TCGA-CG-5728-01 COSM2988875 c.2231C>T p.S744L Substitution - Missense 4:94278668-94278668 + HCC41T COSM3661272 c.1246A>G p.T416A Substitution - Missense 4:94252972-94252972 + TCGA-G4-6588-01 COSM1431838 c.1946C>A p.A649E Substitution - Missense 4:94277023-94277023 + TCGA-66-2795-01 COSM735276 c.665T>A p.F222Y Substitution - Missense 4:94240966-94240966 + TCGA-LP-A5U2-01 COSM4833772 c.19G>T p.D7Y Substitution - Missense 4:94208413-94208413 + B74-Tumor COSM4005818 c.983T>G p.L328R Substitution - Missense 4:94252709-94252709 + TCGA-CA-6718-01 COSM1431837 c.1163A>C p.K388T Substitution - Missense 4:94252889-94252889 + TCGA-B2-4098-01 COSM481689 c.2124A>G p.I708M Substitution - Missense 4:94278463-94278463 + HCC1143 COSM21742 c.64G>A p.E22K Substitution - Missense 4:94208458-94208458 + HCC2998 COSM1671144 c.1229A>C p.K410T Substitution - Missense 4:94252955-94252955 + sysucc-311T COSM5466239 c.1763T>C p.F588S Substitution - Missense 4:94274920-94274920 + TCGA-B5-A11G-01 COSM1059027 c.364A>G p.I122V Substitution - Missense 4:94226292-94226292 + T2269 COSM4728305 c.1853G>A p.R618Q Substitution - Missense 4:94276383-94276383 + TCGA-AZ-6601-01 COSM1431842 c.2366G>T p.R789L Substitution - Missense 4:94278998-94278998 + HN_62921 COSM121905 c.1566T>C p.D522D Substitution - coding silent 4:94270812-94270812 + TCGA-B5-A11N-01 COSM1059031 c.1098C>T p.V366V Substitution - coding silent 4:94252824-94252824 + RK053_C01 COSM3768061 c.1872C>T p.Y624Y Substitution - coding silent 4:94276402-94276402 + HCC41 COSM3661272 c.1246A>G p.T416A Substitution - Missense 4:94252972-94252972 + DLD1 COSM4625370 c.2509T>C p.Y837H Substitution - Missense 4:94280682-94280682 + 19 COSM5746316 c.2809A>G p.N937D Substitution - Missense 4:94283203-94283203 + TCGA-AA-3663-01 COSM1431843 c.2437G>A p.A813T Substitution - Missense 4:94280610-94280610 + TCGA-EB-A4IS-01 COSM3607100 c.2958C>T p.S986S Substitution - coding silent 4:94285008-94285008 + COLO-829 COSM13923 c.2663T>A p.V888D Substitution - Missense 4:94281527-94281527 + 2492722 COSM5723738 c.76C>T p.Q26* Substitution - Nonsense 4:94208470-94208470 + PTC_199 COSM5957788 c.2876C>A p.A959E Substitution - Missense 4:94283270-94283270 + PTC-7C COSM1130990 c.740G>A p.S247N Substitution - Missense 4:94249688-94249688 + ESCC_121 COSM5640564 c.2522A>G p.N841S Substitution - Missense 4:94280695-94280695 + HCC72 COSM1619245 c.78A>G p.Q26Q Substitution - coding silent 4:94208472-94208472 + TCGA-K4-A3WU-01 COSM3776079 c.712G>T p.E238* Substitution - Nonsense 4:94249660-94249660 + TCGA-F5-6814-01 COSM3428782 c.2485G>A p.E829K Substitution - Missense 4:94280658-94280658 + 2492723 COSM5723738 c.76C>T p.Q26* Substitution - Nonsense 4:94208470-94208470 + HN_62469 COSM128736 c.2826_2828delTGT p.V944delV Deletion - In frame 4:94283220-94283222 + TCGA-DS-A1OA-01 COSM4843080 c.205C>G p.P69A Substitution - Missense 4:94226133-94226133 + COLO-829 COSM13923 c.2663T>A p.V888D Substitution - Missense 4:94281527-94281527 + CHC1053T COSM217328 c.1555A>G p.I519V Substitution - Missense 4:94270801-94270801 + TCGA-DK-A3WW-01 COSM3776080 c.1387G>A p.E463K Substitution - Missense 4:94264812-94264812 + ESCC_11 COSM5624572 c.228A>G p.R76R Substitution - coding silent 4:94226156-94226156 + COLO678 COSM2988874 c.2125G>A p.A709T Substitution - Missense 4:94278464-94278464 + TCGA-AA-A00U-01 COSM299006 c.2053G>C p.E685Q Substitution - Missense 4:94277130-94277130 + TCGA-AA-A010-01 COSM285199 c.422G>T p.R141I Substitution - Missense 4:94234007-94234007 + 71 COSM1130990 c.740G>A p.S247N Substitution - Missense 4:94249688-94249688 + TCGA-BS-A0UF-01 COSM1059046 c.2209C>T p.R737* Substitution - Nonsense 4:94278646-94278646 + TCGA-AS-3778-01 COSM1495884 c.538-2A>T p.? Unknown 4:94236950-94236950 + 481 COSM1130990 c.740G>A p.S247N Substitution - Missense 4:94249688-94249688 + 1N37-VS-1T37 COSM4975066 c.652G>A p.E218K Substitution - Missense 4:94240953-94240953 + CHC1601T COSM4805175 c.827A>G p.K276R Substitution - Missense 4:94250771-94250771 + 49 COSM1130990 c.740G>A p.S247N Substitution - Missense 4:94249688-94249688 + C10 COSM4616614 c.2052T>C p.S684S Substitution - coding silent 4:94277129-94277129 + TCGA-AG-3893-01 COSM288778 c.2949T>A p.I983I Substitution - coding silent 4:94284999-94284999 + B37-Tumor COSM1753881 c.1736C>T p.S579F Substitution - Missense 4:94274893-94274893 + BK0059 COSM4188319 c.2477C>G p.T826R Substitution - Missense 4:94280650-94280650 + AOCS-064-3-3 COSM4138556 c.538T>A p.L180M Substitution - Missense 4:94236952-94236952 + TCGA-G4-6586-01 COSM1431840 c.2193_2194insC p.K734fs*6 Insertion - Frameshift 4:94278630-94278631 + 2492721 COSM5723738 c.76C>T p.Q26* Substitution - Nonsense 4:94208470-94208470 + YUMER COSM1059046 c.2209C>T p.R737* Substitution - Nonsense 4:94278646-94278646 + TCGA-C5-A2LX-01 COSM4827548 c.2182C>G p.L728V Substitution - Missense 4:94278619-94278619 + TCGA-E6-A1LZ-01 COSM1059052 c.2461G>C p.D821H Substitution - Missense 4:94280634-94280634 + TCGA-C5-A1M5-01 COSM4830872 c.373G>A p.E125K Substitution - Missense 4:94233958-94233958 + TCGA-EE-A3JD-06 COSM4396649 c.2513G>A p.R838Q Substitution - Missense 4:94280686-94280686 + 8057643 COSM4135432 c.1430C>T p.T477I Substitution - Missense 4:94264855-94264855 + SNU-C4 COSM4653856 c.193G>T p.D65Y Substitution - Missense 4:94226121-94226121 + LIM2405 COSM4613637 c.182delA p.T63fs*58 Deletion - Frameshift 4:94208576-94208576 + 24 COSM1130990 c.740G>A p.S247N Substitution - Missense 4:94249688-94249688 + TCGA-EJ-5531-01 COSM1130988 c.1479A>G p.Q493Q Substitution - coding silent 4:94264904-94264904 + 49M COSM5593213 c.2839C>T p.H947Y Substitution - Missense 4:94283233-94283233 + RK308_C01 COSM3768060 c.1282-8T>C p.? Unknown 4:94264699-94264699 + 49 COSM5011313 c.1837G>A p.D613N Substitution - Missense 4:94276367-94276367 + 71 COSM1431833 c.902T>C p.V301A Substitution - Missense 4:94252628-94252628 + TCGA-18-5595-01 COSM735274 c.2306C>G p.T769R Substitution - Missense 4:94278938-94278938 + TCGA-FW-A3R5-06 COSM3918372 c.1177C>T p.L393F Substitution - Missense 4:94252903-94252903 + CCK81 COSM2988880 c.2462A>G p.D821G Substitution - Missense 4:94280635-94280635 + TCGA-B9-A5W8-01 COSM3993861 c.2753C>G p.T918S Substitution - Missense 4:94283147-94283147 + pfg127T COSM4765354 c.2297_2298insA p.N768fs*28 Insertion - Frameshift 4:94278929-94278930 + Patient_5 COSM1130987 c.1839C>T p.D613D Substitution - coding silent 4:94276369-94276369 + HX14T COSM1619248 c.1945-3C>A p.? Unknown 4:94277019-94277019 + Sample_1 COSM1130987 c.1839C>T p.D613D Substitution - coding silent 4:94276369-94276369 + TCGA-B5-A0JY-01 COSM1059040 c.1606C>A p.L536M Substitution - Missense 4:94273650-94273650 + TCGA-BR-8680-01 COSM4126778 c.1567G>T p.E523* Substitution - Nonsense 4:94270813-94270813 + 55 COSM1431833 c.902T>C p.V301A Substitution - Missense 4:94252628-94252628 + PCSI_0591_Pa_P_526 COSM5760642 c.604+9G>C p.? Unknown 4:94237027-94237027 + TCGA-EJ-5531-01 COSM1130990 c.740G>A p.S247N Substitution - Missense 4:94249688-94249688 + TCGA-FW-A3R5-06 COSM3918374 c.1606C>T p.L536L Substitution - coding silent 4:94273650-94273650 + TCGA-BR-6452-01 COSM4126774 c.1258C>T p.P420S Substitution - Missense 4:94252984-94252984 + TCGA-F1-A448-01 COSM4126770 c.59C>T p.A20V Substitution - Missense 4:94208453-94208453 + YUKLAB COSM1694691 c.2977C>G p.Q993E Substitution - Missense 4:94285027-94285027 + PTC_327 COSM5960325 c.358G>T p.V120L Substitution - Missense 4:94226286-94226286 + HCC72T COSM1619245 c.78A>G p.Q26Q Substitution - coding silent 4:94208472-94208472 + TCGA-DR-A0ZM-01 COSM462108 c.1132G>A p.E378K Substitution - Missense 4:94252858-94252858 + TCGA-AP-A056-01 COSM1059054 c.2569C>T p.R857* Substitution - Nonsense 4:94280742-94280742 + TCGA-FW-A3R5-06 COSM3918371 c.303C>T p.V101V Substitution - coding silent 4:94226231-94226231 + U2940 COSM5621869 c.1613A>G p.Y538C Substitution - Missense 4:94273657-94273657 + B37 COSM1753881 c.1736C>T p.S579F Substitution - Missense 4:94274893-94274893 + LUAD-B00523 COSM332047 c.868A>C p.K290Q Substitution - Missense 4:94250812-94250812 + TCGA-EJ-5531-01 COSM1130987 c.1839C>T p.D613D Substitution - coding silent 4:94276369-94276369 + TCGA-B5-A11N-01 COSM1059050 c.2365C>T p.R789C Substitution - Missense 4:94278997-94278997 + Pat_24_B COSM5866962 c.422G>A p.R141K Substitution - Missense 4:94234007-94234007 + HCC1143 COSM21742 c.64G>A p.E22K Substitution - Missense 4:94208458-94208458 + LUAD-YINHD COSM351089 c.34G>C p.E12Q Substitution - Missense 4:94208428-94208428 + SNU-C2B COSM1431835 c.1033delA p.N347fs*24 Deletion - Frameshift 4:94252759-94252759 + S00829 COSM5660095 c.1811A>G p.Y604C Substitution - Missense 4:94276341-94276341 + TCGA-EE-A3AA-06 COSM3607097 c.1846C>T p.L616L Substitution - coding silent 4:94276376-94276376 + TCGA-IA-A40Y-01 COSM3993859 c.1144G>A p.E382K Substitution - Missense 4:94252870-94252870 + SNU-175 COSM2988846 c.1260C>A p.P420P Substitution - coding silent 4:94252986-94252986 + B5 COSM1753880 c.815G>C p.R272T Substitution - Missense 4:94250759-94250759 + 71M COSM5596055 c.1904A>G p.N635S Substitution - Missense 4:94276434-94276434 + SC_9100 COSM5573818 c.2297-1_2297insA p.N768fs*28 Unknown 4:94278928-94278929 + TCGA-BH-A18G-01 COSM5074406 c.1032_1033insA p.N347fs*4 Insertion - Frameshift 4:94252758-94252759 + HCC26 COSM3661270 c.256C>T p.Q86* Substitution - Nonsense 4:94226184-94226184 + TCGA-AP-A051-01 COSM1059025 c.318C>A p.C106* Substitution - Nonsense 4:94226246-94226246 + 3101B7_035_T COSM5040752 c.755A>C p.Q252P Substitution - Missense 4:94249703-94249703 + TCGA-CA-6717-01 COSM1431834 c.964A>C p.N322H Substitution - Missense 4:94252690-94252690 + CCRF-CEM COSM1671145 c.2984T>G p.L995W Substitution - Missense 4:94285034-94285034 + Pat_41_B COSM5866963 c.1114G>A p.E372K Substitution - Missense 4:94252840-94252840 + SA089 COSM213551 c.2546T>G p.L849W Substitution - Missense 4:94280719-94280719 + TCGA-BH-A1FC-01 COSM1486176 c.611G>C p.G204A Substitution - Missense 4:94240912-94240912 + CHC1053T COSM217328 c.1555A>G p.I519V Substitution - Missense 4:94270801-94270801 + T1240 COSM1059046 c.2209C>T p.R737* Substitution - Nonsense 4:94278646-94278646 + pfg054T COSM2988873 c.2089G>A p.A697T Substitution - Missense 4:94278428-94278428 + TCGA-BQ-7044-01 COSM3993860 c.1538A>G p.K513R Substitution - Missense 4:94270784-94270784 + TCGA-AC-A23H-01 COSM3826452 c.2985G>A p.L995L Substitution - coding silent 4:94285035-94285035 + HCC063T COSM5812852 c.892A>T p.M298L Substitution - Missense 4:94252618-94252618 + SNUH_G16_S1 COSM1130988 c.1479A>G p.Q493Q Substitution - coding silent 4:94264904-94264904 + TCGA-BH-A18G-01 COSM4747639 c.961delA p.N322fs*7 Deletion - Frameshift 4:94252687-94252687 + TBR06 COSM4168030 c.491C>G p.T164S Substitution - Missense 4:94234076-94234076 + PT36 COSM5915340 c.1214C>T p.P405L Substitution - Missense 4:94252940-94252940 + S02120 COSM5673734 c.1081G>T p.D361Y Substitution - Missense 4:94252807-94252807 + HCC6T COSM1619247 c.1572+5G>T p.? Unknown 4:94270823-94270823 + GHE0605 COSM4126778 c.1567G>T p.E523* Substitution - Nonsense 4:94270813-94270813 + TCGA-BS-A0UV-01 COSM1059035 c.1201C>T p.L401F Substitution - Missense 4:94252927-94252927 + PD24325a COSM2988870 c.1873G>A p.A625T Substitution - Missense 4:94276403-94276403 + T2949 COSM4728306 c.2232G>A p.S744S Substitution - coding silent 4:94278669-94278669 + RK233_C01 COSM4778442 c.1945-10T>A p.? Unknown 4:94277012-94277012 + HCC26T COSM3661270 c.256C>T p.Q86* Substitution - Nonsense 4:94226184-94226184 + RKO COSM2988815 c.105A>G p.P35P Substitution - coding silent 4:94208499-94208499 + LS174T COSM1431835 c.1033delA p.N347fs*24 Deletion - Frameshift 4:94252759-94252759 + CHC1053T COSM217328 c.1555A>G p.I519V Substitution - Missense 4:94270801-94270801 + 8067541 COSM4387807 c.1255C>T p.R419W Substitution - Missense 4:94252981-94252981 + OV207 COSM252833 c.2512C>T p.R838* Substitution - Nonsense 4:94280685-94280685 + A7 COSM5351133 c.1733-2A>G p.? Unknown 4:94274888-94274888 + 076T COSM1730705 c.47A>C p.K16T Substitution - Missense 4:94208441-94208441 + TCGA-AG-3892-01 COSM258060 c.2210G>A p.R737Q Substitution - Missense 4:94278647-94278647 + CSCC-27-T COSM4503167 c.632C>T p.S211F Substitution - Missense 4:94240933-94240933 + T2197 COSM4728303 c.1747C>T p.R583C Substitution - Missense 4:94274904-94274904 + TCGA-EP-A3JL-01 COSM4913908 c.2063G>T p.R688I Substitution - Missense 4:94277140-94277140 + 66 COSM1130990 c.740G>A p.S247N Substitution - Missense 4:94249688-94249688 + PT53 COSM1130990 c.740G>A p.S247N Substitution - Missense 4:94249688-94249688 + TCGA-DK-A2I4-01 COSM3776081 c.2598G>A p.L866L Substitution - coding silent 4:94280771-94280771 + TCGA-B5-A0K7-01 COSM1059042 c.1955G>T p.R652L Substitution - Missense 4:94277032-94277032 + TCGA-AP-A0LM-01 COSM1059029 c.613C>T p.P205S Substitution - Missense 4:94240914-94240914 + B5-Tumor COSM1753880 c.815G>C p.R272T Substitution - Missense 4:94250759-94250759 + CCC6 COSM3661271 c.1192A>G p.I398V Substitution - Missense 4:94252918-94252918 + C135 COSM4618445 c.2850C>T p.D950D Substitution - coding silent 4:94283244-94283244 + LP6005334-DNA_A04 COSM4412356 c.1808+5G>C p.? Unknown 4:94274970-94274970 + CSCC-16-T COSM4454164 c.423A>G p.R141R Substitution - coding silent 4:94234008-94234008 + HCC6 COSM1619247 c.1572+5G>T p.? Unknown 4:94270823-94270823 + TCGA-DK-A1AF-01 COSM1310387 c.121G>A p.E41K Substitution - Missense 4:94208515-94208515 + TCGA-AP-A051-01 COSM1059044 c.1988A>C p.N663T Substitution - Missense 4:94277065-94277065 + TCGA-EE-A2A0-06 COSM2988818 c.249C>T p.F83F Substitution - coding silent 4:94226177-94226177 + EGC3 COSM5060540 c.604G>T p.G202C Substitution - Missense 4:94237018-94237018 + TCGA-37-3789-01 COSM735272 c.2843A>T p.D948V Substitution - Missense 4:94283237-94283237 + COLO-829 COSM13923 c.2663T>A p.V888D Substitution - Missense 4:94281527-94281527 + MedB-1 COSM5621870 c.1958T>C p.L653S Substitution - Missense 4:94277035-94277035 + PA285 COSM1163374 c.683_684insA p.T231fs*11 Insertion - Frameshift 4:94240984-94240985 + CHC1601T COSM4805175 c.827A>G p.K276R Substitution - Missense 4:94250771-94250771 + TCGA-85-6561-01 COSM735273 c.2508G>T p.Q836H Substitution - Missense 4:94280681-94280681 + A9 COSM5351134 c.1848G>T p.L616L Substitution - coding silent 4:94276378-94276378 + 7T COSM3714915 c.2173G>C p.E725Q Substitution - Missense 4:94278512-94278512 + TCGA-CG-5723-01 COSM4126780 c.1963C>T p.L655F Substitution - Missense 4:94277040-94277040 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.410397;Hs.410406 4q22-q23 612761 2427830|CGAP|BC045534|C/T|non-coding||4241|Validated; 1516174|dbSNP|BC045534|C/T|non-coding||4241|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.M783Wfs*25 c.2347delA 4 95200121 HNSC A G IntronicSNV . c.1282-9A>G 4 95185849 CM A G Missense p.I122V c.364A>G 4 95147443 UCEC A G Missense p.I519V c.1555A>G 4 95191952 HC A G Missense p.I708M c.2124A>G 4 95199614 RCCC A - IntronicDeletion . c.2732+31delA 4 95202766 STAD A T Missense p.D950V c.2849A>T 4 95204388 LUSC CC AA Missense p.P264Q c.791_792delinsAA 4 95170890 CM C G Missense p.T164S c.491C>G 4 95155227 ALL C G Missense p.T771R c.2312C>G 4 95200089 LUSC C T Missense p.H966Y c.2896C>T 4 95204435 CM C T Missense p.R344C c.1030C>T 4 95173907 COREAD C T Missense p.S744L c.2231C>T 4 95199819 STAD C T Missense p.T164I c.491C>T 4 95155227 HNSC C T Synonymous p.F830F c.2490C>T 4 95201808 CM C T Synonymous p.F83F c.249C>T 4 95147328 CM C T Synonymous p.L616L c.1846C>T 4 95197527 CM C T Synonymous p.S638S c.1914C>T 4 95197595 CM G A Missense p.E128K c.382G>A 4 95155118 ALL G A Missense p.E41K c.121G>A 4 95129666 BLCA G A Missense p.R840Q c.2519G>A 4 95201837 CM G A Missense p.S173N c.518G>A 4 95155254 OV G A SpliceDonorSNV . c.1808+1G>A 4 95196117 BRCA G A Synonymous p.L868L c.2604G>A 4 95201922 BLCA G C Missense p.A625P c.1873G>C 4 95197554 HNSC G C Missense p.D224H c.670G>C 4 95162122 LUAD G C Missense p.D823H c.2467G>C 4 95201785 UCEC G C Missense p.E130Q c.388G>C 4 95155124 BLCA G C Missense p.E685Q c.2053G>C 4 95198281 COREAD G C Missense p.G204A c.611G>C 4 95162063 BRCA G C Missense p.L165F c.495G>C 4 95155231 HNSC G C SpliceAcceptorSNV . c.2916-1G>C 4 95206110 LUAD G T Missense p.G1009V c.3026G>T 4 95210624 LUAD G T Missense p.K572N c.1716G>T 4 95195932 LUAD G T Missense p.Q838H c.2514G>T 4 95201832 LUSC G T SpliceAcceptorSNV . c.2733-1G>T 4 95204271 LUAD G T SpliceDonorSNV . c.705+1G>T 4 95162158 LUAD G T Synonymous p.A607A c.1821G>T 4 95197502 LUAD GTTTTCTTTT - IntronicDeletion . c.706-27_706-18delGTTTTCTTTT 4 95170778 CLL T A Missense p.F222Y c.665T>A 4 95162117 LUSC T A Synonymous p.I985I c.2955T>A 4 95206150 COREAD T C Synonymous p.D522D c.1566T>C 4 95191963 HNSC T C Synonymous p.S247S c.741T>C 4 95170840 ESCA T G Missense p.L851W c.2552T>G 4 95201870 BRCA