Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 1 197128497 197128497 + Missense_Mutation SNP G G C TCGA-GV-A6ZA-01A-12D-A339-08 TCGA-GV-A6ZA-10A-01D-A339-08 g.chr1:197128497G>C c.2722C>G c.(2722-2724)Cat>Gat p.H908D BLCA 1 197128764 197128764 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 g.chr1:197128764C>T c.2455G>A c.(2455-2457)Gac>Aac p.D819N BLCA 1 197128821 197128821 + Missense_Mutation SNP G G T TCGA-E7-A3Y1-01A-11D-A22Z-08 TCGA-E7-A3Y1-10A-01D-A22Z-08 g.chr1:197128821G>T c.2398C>A c.(2398-2400)Cag>Aag p.Q800K BLCA 1 197144231 197144231 + Nonsense_Mutation SNP G G A TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr1:197144231G>A c.1894C>T c.(1894-1896)Cag>Tag p.Q632* BLCA 1 197145778 197145778 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr1:197145778C>T c.1795G>A c.(1795-1797)Gat>Aat p.D599N BLCA 1 197147629 197147629 + Missense_Mutation SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 g.chr1:197147629C>T c.1690G>A c.(1690-1692)Gaa>Aaa p.E564K BLCA 1 197147643 197147643 + Splice_Site SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 g.chr1:197147643C>T c.e6-1 BLCA 1 197160945 197160945 + Missense_Mutation SNP G G C TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 g.chr1:197160945G>C c.1205C>G c.(1204-1206)tCt>tGt p.S402C BLCA 1 197169253 197169253 + Missense_Mutation SNP C C G TCGA-DK-A3IS-01A-21D-A21A-08 TCGA-DK-A3IS-10A-01D-A21A-08 g.chr1:197169253C>G c.351G>C c.(349-351)ttG>ttC p.L117F BLCA 1 197169432 197169432 + Missense_Mutation SNP G G C TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 g.chr1:197169432G>C c.172C>G c.(172-174)Cca>Gca p.P58A BRCA 1 197128626 197128626 + Nonsense_Mutation SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr1:197128626G>A c.2593C>T c.(2593-2595)Caa>Taa p.Q865* BRCA 1 197128914 197128914 + Missense_Mutation SNP C C G TCGA-BH-A2L8-01A-11D-A18P-09 TCGA-BH-A2L8-10A-01D-A18P-09 g.chr1:197128914C>G c.2305G>C c.(2305-2307)Gag>Cag p.E769Q BRCA 1 197144179 197144179 + Missense_Mutation SNP T T C TCGA-E9-A5FK-01A-11D-A27P-09 TCGA-E9-A5FK-10A-01D-A27P-09 g.chr1:197144179T>C c.1946A>G c.(1945-1947)cAt>cGt p.H649R BRCA 1 197168890 197168890 + Frame_Shift_Del DEL T T - TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr1:197168890delT c.714delA c.(712-714)aaafs p.K238fs BRCA 1 197169214 197169214 + Silent SNP G G A TCGA-AN-A0FV-01A-11W-A019-09 TCGA-AN-A0FV-10A-01W-A021-09 g.chr1:197169214G>A c.390C>T c.(388-390)caC>caT p.H130H BRCA 1 197169225 197169225 + Missense_Mutation SNP T T G TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr1:197169225T>G c.379A>C c.(379-381)Acc>Ccc p.T127P BRCA 1 197169434 197169437 + Frame_Shift_Del DEL GAGG GAGG - TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 g.chr1:197169434_197169437delGAGG c.167_170delCCTC c.(166-171)ccctctfs p.PS56fs BRCA 1 197169544 197169544 + Missense_Mutation SNP T T G TCGA-D8-A142-01A-11D-A10Y-09 TCGA-D8-A142-10A-01D-A110-09 g.chr1:197169544T>G c.60A>C c.(58-60)aaA>aaC p.K20N CESC 1 197128511 197128511 + Missense_Mutation SNP G G C TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chr1:197128511G>C c.2708C>G c.(2707-2709)tCt>tGt p.S903C CESC 1 197128956 197128956 + Missense_Mutation SNP G G A TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr1:197128956G>A c.2263C>T c.(2263-2265)Cct>Tct p.P755S COAD 1 197128742 197128742 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:197128742C>T c.2477G>A c.(2476-2478)cGt>cAt p.R826H COAD 1 197129054 197129054 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:197129054C>T c.2165G>A c.(2164-2166)cGa>cAa p.R722Q COAD 1 197145706 197145706 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:197145706T>C c.1867A>G c.(1867-1869)Aaa>Gaa p.K623E COAD 1 197147565 197147565 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr1:197147565C>T c.1754G>A c.(1753-1755)cGt>cAt p.R585H COAD 1 197150125 197150125 + Nonsense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:197150125G>A c.1669C>T c.(1669-1671)Cga>Tga p.R557* COAD 1 197150182 197150183 + Frame_Shift_Ins INS - - TA TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr1:197150182_197150183insTA c.1611_1612insTA c.(1609-1614)atagaafs p.E538fs COAD 1 197157490 197157490 + Missense_Mutation SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr1:197157490C>T c.1478G>A c.(1477-1479)tGt>tAt p.C493Y COAD 1 197157491 197157491 + Missense_Mutation SNP A A G TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr1:197157491A>G c.1477T>C c.(1477-1479)Tgt>Cgt p.C493R COAD 1 197160890 197160892 + In_Frame_Del DEL CTT CTT - TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:197160890_197160892delCTT c.1258_1260delAAG c.(1258-1260)aagdel p.K420del COAD 1 197160904 197160904 + Nonsense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:197160904C>A c.1246G>T c.(1246-1248)Gaa>Taa p.E416* COAD 1 197168729 197168729 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:197168729C>A c.875G>T c.(874-876)aGa>aTa p.R292I COAD 1 197168835 197168835 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:197168835G>A c.769C>T c.(769-771)Cgg>Tgg p.R257W COAD 1 197168889 197168890 + Frame_Shift_Ins INS - - T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr1:197168889_197168890insT c.714_715insA c.(712-717)aaacatfs p.H239fs COAD 1 197168890 197168890 + Frame_Shift_Del DEL T T - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:197168890delT c.714delA c.(712-714)aaafs p.K238fs COAD 1 197168890 197168890 + Silent SNP T T C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:197168890T>C c.714A>G c.(712-714)aaA>aaG p.K238K COAD 1 197169102 197169102 + Missense_Mutation SNP T T A TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr1:197169102T>A c.502A>T c.(502-504)Ata>Tta p.I168L COAD 1 197169111 197169111 + Missense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:197169111A>C c.493T>G c.(493-495)Ttg>Gtg p.L165V COAD 1 197169391 197169391 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:197169391C>A c.213G>T c.(211-213)aaG>aaT p.K71N COAD 1 197169396 197169396 + Missense_Mutation SNP T T G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:197169396T>G c.208A>C c.(208-210)Aat>Cat p.N70H COADREAD 1 197128742 197128742 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:197128742C>T c.2477G>A c.(2476-2478)cGt>cAt p.R826H COADREAD 1 197129054 197129054 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:197129054C>T c.2165G>A c.(2164-2166)cGa>cAa p.R722Q COADREAD 1 197145706 197145706 + Missense_Mutation SNP T T C TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:197145706T>C c.1867A>G c.(1867-1869)Aaa>Gaa p.K623E COADREAD 1 197147565 197147565 + Missense_Mutation SNP C C T TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr1:197147565C>T c.1754G>A c.(1753-1755)cGt>cAt p.R585H COADREAD 1 197150125 197150125 + Nonsense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:197150125G>A c.1669C>T c.(1669-1671)Cga>Tga p.R557* COADREAD 1 197150125 197150125 + Nonsense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:197150125G>A c.1669C>T c.(1669-1671)Cga>Tga p.R557* COADREAD 1 197150182 197150183 + Frame_Shift_Ins INS - - TA TCGA-AY-6386-01A-21D-1719-10 TCGA-AY-6386-10A-01D-1719-10 g.chr1:197150182_197150183insTA c.1611_1612insTA c.(1609-1614)atagaafs p.E538fs COADREAD 1 197157452 197157452 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr1:197157452G>A c.1516C>T c.(1516-1518)Cgg>Tgg p.R506W COADREAD 1 197157490 197157490 + Missense_Mutation SNP C C T TCGA-AA-3845-01A-01W-0995-10 TCGA-AA-3845-10A-01W-0995-10 g.chr1:197157490C>T c.1478G>A c.(1477-1479)tGt>tAt p.C493Y COADREAD 1 197157491 197157491 + Missense_Mutation SNP A A G TCGA-AA-A00J-01A-02W-A005-10 TCGA-AA-A00J-10A-01W-A005-10 g.chr1:197157491A>G c.1477T>C c.(1477-1479)Tgt>Cgt p.C493R COADREAD 1 197160890 197160892 + In_Frame_Del DEL CTT CTT - TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr1:197160890_197160892delCTT c.1258_1260delAAG c.(1258-1260)aagdel p.K420del COADREAD 1 197160904 197160904 + Nonsense_Mutation SNP C C A TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:197160904C>A c.1246G>T c.(1246-1248)Gaa>Taa p.E416* COADREAD 1 197160979 197160979 + Missense_Mutation SNP A A T TCGA-AG-3609-01A-02W-0833-10 TCGA-AG-3609-10A-01W-0833-10 g.chr1:197160979A>T c.1171T>A c.(1171-1173)Tgt>Agt p.C391S COADREAD 1 197168729 197168729 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:197168729C>A c.875G>T c.(874-876)aGa>aTa p.R292I COADREAD 1 197168835 197168835 + Missense_Mutation SNP G G A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr1:197168835G>A c.769C>T c.(769-771)Cgg>Tgg p.R257W COADREAD 1 197168857 197168857 + Silent SNP G G A TCGA-AF-6672-01A-11D-1826-10 TCGA-AF-6672-10A-01D-1826-10 g.chr1:197168857G>A c.747C>T c.(745-747)tcC>tcT p.S249S COADREAD 1 197168889 197168890 + Frame_Shift_Ins INS - - T TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr1:197168889_197168890insT c.714_715insA c.(712-717)aaacatfs p.H239fs COADREAD 1 197168890 197168890 + Frame_Shift_Del DEL T T - TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr1:197168890delT c.714delA c.(712-714)aaafs p.K238fs COADREAD 1 197168890 197168890 + Silent SNP T T C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr1:197168890T>C c.714A>G c.(712-714)aaA>aaG p.K238K COADREAD 1 197169102 197169102 + Missense_Mutation SNP T T A TCGA-AA-3660-01A-01D-1719-10 TCGA-AA-3660-11A-01D-1719-10 g.chr1:197169102T>A c.502A>T c.(502-504)Ata>Tta p.I168L COADREAD 1 197169111 197169111 + Missense_Mutation SNP A A C TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr1:197169111A>C c.493T>G c.(493-495)Ttg>Gtg p.L165V COADREAD 1 197169391 197169391 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr1:197169391C>A c.213G>T c.(211-213)aaG>aaT p.K71N COADREAD 1 197169396 197169396 + Missense_Mutation SNP T T G TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr1:197169396T>G c.208A>C c.(208-210)Aat>Cat p.N70H COADREAD 1 197169589 197169589 + Silent SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:197169589T>C c.15A>G c.(13-15)agA>agG p.R5R ESCA 1 197128851 197128851 + Missense_Mutation SNP C C A TCGA-L5-A4OE-01A-11D-A27G-09 TCGA-L5-A4OE-11A-11D-A27G-09 g.chr1:197128851C>A c.2368G>T c.(2368-2370)Gtt>Ttt p.V790F ESCA 1 197169221 197169221 + Missense_Mutation SNP A A G TCGA-LN-A9FP-01A-31D-A387-09 TCGA-LN-A9FP-10A-01D-A38A-09 g.chr1:197169221A>G c.383T>C c.(382-384)cTg>cCg p.L128P GBMLGG 1 197157461 197157461 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:197157461G>A c.1507C>T c.(1507-1509)Cgg>Tgg p.R503W GBMLGG 1 197169499 197169499 + Silent SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:197169499G>T c.105C>A c.(103-105)acC>acA p.T35T HNSC 1 197128556 197128556 + Missense_Mutation SNP C C T TCGA-CR-7395-01A-11D-2012-08 TCGA-CR-7395-10A-01D-2013-08 g.chr1:197128556C>T c.2663G>A c.(2662-2664)gGa>gAa p.G888E HNSC 1 197128584 197128584 + Missense_Mutation SNP G G C TCGA-WA-A7GZ-01A-11D-A34J-08 TCGA-WA-A7GZ-10A-01D-A34M-08 g.chr1:197128584G>C c.2635C>G c.(2635-2637)Cta>Gta p.L879V HNSC 1 197128614 197128614 + Missense_Mutation SNP T T C TCGA-P3-A6T8-01A-11D-A34J-08 TCGA-P3-A6T8-10A-01D-A34M-08 g.chr1:197128614T>C c.2605A>G c.(2605-2607)Ata>Gta p.I869V HNSC 1 197128771 197128771 + Silent SNP C C T TCGA-CN-5356-01A-01D-1434-08 TCGA-CN-5356-10A-01D-1434-08 g.chr1:197128771C>T c.2448G>A c.(2446-2448)caG>caA p.Q816Q HNSC 1 197128811 197128811 + Missense_Mutation SNP G G C TCGA-CR-7388-01A-11D-2012-08 TCGA-CR-7388-10A-01D-2013-08 g.chr1:197128811G>C c.2408C>G c.(2407-2409)tCt>tGt p.S803C HNSC 1 197145781 197145781 + Missense_Mutation SNP G G A TCGA-BA-4074-01A-01D-1434-08 TCGA-BA-4074-10A-01D-1434-08 g.chr1:197145781G>A c.1792C>T c.(1792-1794)Cat>Tat p.H598Y HNSC 1 197160945 197160945 + Missense_Mutation SNP G G C TCGA-D6-6516-01A-11D-1870-08 TCGA-D6-6516-10A-01D-1870-08 g.chr1:197160945G>C c.1205C>G c.(1204-1206)tCt>tGt p.S402C KIPAN 1 197159944 197159944 + Missense_Mutation SNP G G T TCGA-BP-4977-01A-01D-1462-08 TCGA-BP-4977-11A-01D-1462-08 g.chr1:197159944G>T c.1346C>A c.(1345-1347)gCa>gAa p.A449E KIPAN 1 197159958 197159959 + Frame_Shift_Del DEL AA AA - TCGA-CW-5581-01A-02D-1534-10 TCGA-CW-5581-11A-01D-1535-10 g.chr1:197159958_197159959delAA c.1331_1332delTT c.(1330-1332)tttfs p.F444fs KIPAN 1 197169167 197169167 + Nonsense_Mutation SNP G G T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 g.chr1:197169167G>T c.437C>A c.(436-438)tCa>tAa p.S146* KIPAN 1 197169423 197169423 + Missense_Mutation SNP T T C TCGA-BP-4961-01A-01D-1462-08 TCGA-BP-4961-11A-01D-1462-08 g.chr1:197169423T>C c.181A>G c.(181-183)Aga>Gga p.R61G KIRC 1 197159944 197159944 + Missense_Mutation SNP G G T TCGA-BP-4977-01A-01D-1462-08 TCGA-BP-4977-11A-01D-1462-08 g.chr1:197159944G>T c.1346C>A c.(1345-1347)gCa>gAa p.A449E KIRC 1 197159958 197159959 + Frame_Shift_Del DEL AA AA - TCGA-CW-5581-01A-02D-1534-10 TCGA-CW-5581-11A-01D-1535-10 g.chr1:197159958_197159959delAA c.1331_1332delTT c.(1330-1332)tttfs p.F444fs KIRC 1 197169167 197169167 + Nonsense_Mutation SNP G G T TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 g.chr1:197169167G>T c.437C>A c.(436-438)tCa>tAa p.S146* KIRC 1 197169423 197169423 + Missense_Mutation SNP T T C TCGA-BP-4961-01A-01D-1462-08 TCGA-BP-4961-11A-01D-1462-08 g.chr1:197169423T>C c.181A>G c.(181-183)Aga>Gga p.R61G LGG 1 197157461 197157461 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:197157461G>A c.1507C>T c.(1507-1509)Cgg>Tgg p.R503W LGG 1 197169499 197169499 + Silent SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:197169499G>T c.105C>A c.(103-105)acC>acA p.T35T LIHC 1 197157558 197157558 + Silent SNP T T C TCGA-DD-AACA-01A-11D-A40R-10 TCGA-DD-AACA-10A-01D-A40U-10 g.chr1:197157558T>C c.1410A>G c.(1408-1410)aaA>aaG p.K470K LIHC 1 197169179 197169179 + Missense_Mutation SNP A A G TCGA-CC-A3MA-01A-11D-A20W-10 TCGA-CC-A3MA-10A-01D-A20W-10 g.chr1:197169179A>G c.425T>C c.(424-426)tTt>tCt p.F142S LIHC 1 197169358 197169358 + Missense_Mutation SNP C C A TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr1:197169358C>A c.246G>T c.(244-246)caG>caT p.Q82H LUAD 1 197128562 197128562 + Missense_Mutation SNP T T C TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr1:197128562T>C c.2657A>G c.(2656-2658)tAt>tGt p.Y886C LUAD 1 197128671 197128671 + Nonsense_Mutation SNP G G A TCGA-95-7043-01A-11D-1945-08 TCGA-95-7043-10A-01D-1946-08 g.chr1:197128671G>A c.2548C>T c.(2548-2550)Cga>Tga p.R850* LUAD 1 197128743 197128743 + Missense_Mutation SNP G G A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 g.chr1:197128743G>A c.2476C>T c.(2476-2478)Cgt>Tgt p.R826C LUAD 1 197141290 197141290 + Splice_Site SNP C C G TCGA-78-7535-01A-11D-2063-08 TCGA-78-7535-10A-01D-2063-08 g.chr1:197141290C>G c.2074G>C c.(2074-2076)Ggt>Cgt p.G692R LUAD 1 197141362 197141362 + Missense_Mutation SNP G G A TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr1:197141362G>A c.2002C>T c.(2002-2004)Cat>Tat p.H668Y LUAD 1 197144219 197144219 + Missense_Mutation SNP A A G TCGA-97-7546-01A-11D-2036-08 TCGA-97-7546-10A-01D-2036-08 g.chr1:197144219A>G c.1906T>C c.(1906-1908)Tgt>Cgt p.C636R LUAD 1 197145789 197145789 + Missense_Mutation SNP C C A TCGA-99-8028-01A-11D-2238-08 TCGA-99-8028-10A-01D-2238-08 g.chr1:197145789C>A c.1784G>T c.(1783-1785)cGa>cTa p.R595L LUAD 1 197147607 197147607 + Missense_Mutation SNP C C A TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr1:197147607C>A c.1712G>T c.(1711-1713)gGa>gTa p.G571V LUAD 1 197147608 197147608 + Missense_Mutation SNP C C T TCGA-MP-A4SV-01A-11D-A24P-08 TCGA-MP-A4SV-10A-01D-A24P-08 g.chr1:197147608C>T c.1711G>A c.(1711-1713)Gga>Aga p.G571R LUAD 1 197150178 197150178 + Missense_Mutation SNP C C G TCGA-53-7626-01A-12D-2063-08 TCGA-53-7626-10A-01D-2063-08 g.chr1:197150178C>G c.1616G>C c.(1615-1617)tGt>tCt p.C539S LUAD 1 197150200 197150200 + Missense_Mutation SNP T T G TCGA-62-A46P-01A-11D-A24D-08 TCGA-62-A46P-10A-01D-A24F-08 g.chr1:197150200T>G c.1594A>C c.(1594-1596)Aat>Cat p.N532H LUAD 1 197160928 197160928 + Nonsense_Mutation SNP T T A TCGA-MP-A4TC-01A-11D-A24P-08 TCGA-MP-A4TC-10A-01D-A24P-08 g.chr1:197160928T>A c.1222A>T c.(1222-1224)Aga>Tga p.R408* LUAD 1 197168484 197168484 + Splice_Site SNP C C T TCGA-55-6987-01A-11D-1945-08 TCGA-55-6987-11A-01D-1945-08 g.chr1:197168484C>T c.1120G>A c.(1120-1122)Gga>Aga p.G374R LUAD 1 197168592 197168592 + Missense_Mutation SNP C C A TCGA-99-8032-01A-11D-2238-08 TCGA-99-8032-10A-01D-2238-08 g.chr1:197168592C>A c.1012G>T c.(1012-1014)Ggt>Tgt p.G338C LUAD 1 197168763 197168763 + Missense_Mutation SNP T T A TCGA-NJ-A4YF-01A-12D-A25L-08 TCGA-NJ-A4YF-10A-01D-A25L-08 g.chr1:197168763T>A c.841A>T c.(841-843)Aat>Tat p.N281Y LUAD 1 197168774 197168774 + Nonsense_Mutation SNP G G C TCGA-55-8616-01A-11D-2393-08 TCGA-55-8616-10A-01D-2393-08 g.chr1:197168774G>C c.830C>G c.(829-831)tCa>tGa p.S277* LUAD 1 197169211 197169211 + Silent SNP T T A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr1:197169211T>A c.393A>T c.(391-393)gtA>gtT p.V131V LUAD 1 197169565 197169565 + Missense_Mutation SNP C C G TCGA-97-8174-01A-11D-2284-08 TCGA-97-8174-10A-01D-2284-08 g.chr1:197169565C>G c.39G>C c.(37-39)aaG>aaC p.K13N LUSC 1 197150130 197150130 + Missense_Mutation SNP G G A TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr1:197150130G>A c.1664C>T c.(1663-1665)tCa>tTa p.S555L LUSC 1 197160934 197160934 + Missense_Mutation SNP C C A TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr1:197160934C>A c.1216G>T c.(1216-1218)Gtt>Ttt p.V406F LUSC 1 197168544 197168544 + Missense_Mutation SNP G G C TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 g.chr1:197168544G>C c.1060C>G c.(1060-1062)Cag>Gag p.Q354E LUSC 1 197169465 197169465 + Missense_Mutation SNP C C T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr1:197169465C>T c.139G>A c.(139-141)Gct>Act p.A47T OV 1 197169101 197169101 + Missense_Mutation SNP A A C TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 g.chr1:197169101A>C c.503T>G c.(502-504)aTa>aGa p.I168R PAAD 1 197168633 197168633 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:197168633C>T c.971G>A c.(970-972)aGt>aAt p.S324N PAAD 1 197169467 197169467 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:197169467T>G c.137A>C c.(136-138)gAa>gCa p.E46A PRAD 1 197128614 197128637 + In_Frame_Del DEL TATTTGCAGGTTGAGGAGTAAGAG TATTTGCAGGTTGAGGAGTAAGAG - TCGA-FC-A6HD-01A-11D-A31L-08 TCGA-FC-A6HD-10A-01D-A31J-08 g.chr1:197128614_197128637delTATTTGCAGGTTGAGGAGTAAGAG c.2582_2605delCTCTTACTCCTCAACCTGCAAATA c.(2581-2607)actcttactcctcaacctgcaaatata>ata p.TLTPQPAN861del PRAD 1 197169426 197169426 + Nonsense_Mutation SNP G G A TCGA-EJ-7218-01B-11D-A32B-08 TCGA-EJ-7218-10A-01D-A329-08 g.chr1:197169426G>A c.178C>T c.(178-180)Cag>Tag p.Q60* READ 1 197150125 197150125 + Nonsense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:197150125G>A c.1669C>T c.(1669-1671)Cga>Tga p.R557* READ 1 197157452 197157452 + Missense_Mutation SNP G G A TCGA-AG-3892-01A-01W-1073-09 TCGA-AG-3892-10A-01W-1073-09 g.chr1:197157452G>A c.1516C>T c.(1516-1518)Cgg>Tgg p.R506W READ 1 197160979 197160979 + Missense_Mutation SNP A A T TCGA-AG-3609-01A-02W-0833-10 TCGA-AG-3609-10A-01W-0833-10 g.chr1:197160979A>T c.1171T>A c.(1171-1173)Tgt>Agt p.C391S READ 1 197168857 197168857 + Silent SNP G G A TCGA-AF-6672-01A-11D-1826-10 TCGA-AF-6672-10A-01D-1826-10 g.chr1:197168857G>A c.747C>T c.(745-747)tcC>tcT p.S249S READ 1 197169589 197169589 + Silent SNP T T C TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr1:197169589T>C c.15A>G c.(13-15)agA>agG p.R5R SARC 1 197128578 197128578 + Missense_Mutation SNP G G A TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 g.chr1:197128578G>A c.2641C>T c.(2641-2643)Cct>Tct p.P881S SARC 1 197128821 197128821 + Missense_Mutation SNP G G C TCGA-DX-AB37-01A-11D-A417-09 TCGA-DX-AB37-10A-01D-A41A-09 g.chr1:197128821G>C c.2398C>G c.(2398-2400)Cag>Gag p.Q800E SKCM 1 197128841 197128841 + Missense_Mutation SNP G G A TCGA-D3-A51R-06A-11D-A25O-08 TCGA-D3-A51R-10A-01D-A25O-08 g.chr1:197128841G>A c.2378C>T c.(2377-2379)tCg>tTg p.S793L SKCM 1 197128925 197128925 + Missense_Mutation SNP G G A TCGA-D3-A3MV-06A-11D-A21A-08 TCGA-D3-A3MV-10A-01D-A21A-08 g.chr1:197128925G>A c.2294C>T c.(2293-2295)tCc>tTc p.S765F SKCM 1 197128967 197128967 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr1:197128967G>A c.2252C>T c.(2251-2253)tCt>tTt p.S751F SKCM 1 197129067 197129067 + Missense_Mutation SNP G G A TCGA-ER-A19N-06A-11D-A197-08 TCGA-ER-A19N-10A-01D-A199-08 g.chr1:197129067G>A c.2152C>T c.(2152-2154)Cat>Tat p.H718Y SKCM 1 197147566 197147566 + Missense_Mutation SNP G G A TCGA-EE-A2GJ-06A-11D-A196-08 TCGA-EE-A2GJ-10A-01D-A198-08 g.chr1:197147566G>A c.1753C>T c.(1753-1755)Cgt>Tgt p.R585C SKCM 1 197159928 197159928 + Silent SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr1:197159928G>A c.1362C>T c.(1360-1362)tcC>tcT p.S454S SKCM 1 197160868 197160868 + Missense_Mutation SNP T T A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr1:197160868T>A c.1282A>T c.(1282-1284)Aat>Tat p.N428Y SKCM 1 197168858 197168858 + Missense_Mutation SNP G G A TCGA-FW-A3TV-06A-11D-A23B-08 TCGA-FW-A3TV-10A-01D-A23B-08 g.chr1:197168858G>A c.746C>T c.(745-747)tCc>tTc p.S249F SKCM 1 197168953 197168953 + Silent SNP A A G TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr1:197168953A>G c.651T>C c.(649-651)tgT>tgC p.C217C

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 197169492 197169492 single base substitution G A exon_variant BLCA-CN 1 197169492 197169492 single base substitution G A missense_variant H38Y 112C>T BLCA-US 1 197128821 197128821 single base substitution G T exon_variant BLCA-US 1 197128821 197128821 single base substitution G T missense_variant Q800K 2398C>A BLCA-US 1 197145778 197145778 single base substitution C T exon_variant BLCA-US 1 197145778 197145778 single base substitution C T missense_variant D599N 1795G>A BLCA-US 1 197160945 197160945 single base substitution G C exon_variant BLCA-US 1 197160945 197160945 single base substitution G C missense_variant S402C 1205C>G BLCA-US 1 197169253 197169253 single base substitution C G exon_variant BLCA-US 1 197169253 197169253 single base substitution C G missense_variant L117F 351G>C BOCA-UK 1 197129009 197129009 single base substitution T A exon_variant BOCA-UK 1 197129009 197129009 single base substitution T A missense_variant D737V 2210A>T BRCA-EU 1 197117938 197117938 single base substitution T G downstream_gene_variant BRCA-EU 1 197118330 197118330 single base substitution G A downstream_gene_variant BRCA-EU 1 197119098 197119098 single base substitution C T downstream_gene_variant BRCA-EU 1 197120423 197120427 deletion of <=200bp ACTGA - downstream_gene_variant BRCA-EU 1 197120785 197120785 single base substitution G T downstream_gene_variant BRCA-EU 1 197121084 197121084 single base substitution T G downstream_gene_variant BRCA-EU 1 197121385 197121385 single base substitution C T downstream_gene_variant BRCA-EU 1 197121827 197121827 single base substitution G A downstream_gene_variant BRCA-EU 1 197123605 197123605 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 197123605 197123605 single base substitution G C downstream_gene_variant BRCA-EU 1 197125729 197125729 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 197125729 197125729 single base substitution G C downstream_gene_variant BRCA-EU 1 197127076 197127076 single base substitution A G 3_prime_UTR_variant BRCA-EU 1 197127076 197127076 single base substitution A G downstream_gene_variant BRCA-EU 1 197127088 197127088 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 197127088 197127088 single base substitution G A downstream_gene_variant BRCA-EU 1 197128962 197128962 single base substitution C G exon_variant BRCA-EU 1 197128962 197128962 single base substitution C G missense_variant D753H 2257G>C BRCA-EU 1 197129061 197129061 single base substitution C G exon_variant BRCA-EU 1 197129061 197129061 single base substitution C G missense_variant D720H 2158G>C BRCA-EU 1 197130123 197130123 single base substitution G C intron_variant BRCA-EU 1 197130442 197130442 single base substitution G C intron_variant BRCA-EU 1 197131627 197131627 single base substitution G A intron_variant BRCA-EU 1 197132368 197132368 single base substitution C A intron_variant BRCA-EU 1 197133670 197133670 insertion of <=200bp - A intron_variant BRCA-EU 1 197134375 197134375 single base substitution A T intron_variant BRCA-EU 1 197134544 197134544 single base substitution C G intron_variant BRCA-EU 1 197134632 197134632 single base substitution C G intron_variant BRCA-EU 1 197134647 197134647 single base substitution G T intron_variant BRCA-EU 1 197134909 197134909 single base substitution A T intron_variant BRCA-EU 1 197135324 197135324 insertion of <=200bp - A intron_variant BRCA-EU 1 197135424 197135424 single base substitution A T intron_variant BRCA-EU 1 197136143 197136143 single base substitution T G intron_variant BRCA-EU 1 197136577 197136577 single base substitution G C intron_variant BRCA-EU 1 197137069 197137069 single base substitution A T intron_variant BRCA-EU 1 197137427 197137427 deletion of <=200bp A - intron_variant BRCA-EU 1 197138193 197138193 deletion of <=200bp A - intron_variant BRCA-EU 1 197138837 197138837 deletion of <=200bp A - intron_variant BRCA-EU 1 197138968 197138968 single base substitution G A intron_variant BRCA-EU 1 197139819 197139819 single base substitution A G intron_variant BRCA-EU 1 197141251 197141251 single base substitution C A intron_variant BRCA-EU 1 197141788 197141788 single base substitution G A intron_variant BRCA-EU 1 197141965 197141965 single base substitution T A intron_variant BRCA-EU 1 197142754 197142754 single base substitution C T intron_variant BRCA-EU 1 197144187 197144187 single base substitution G A exon_variant BRCA-EU 1 197144187 197144187 single base substitution G A synonymous_variant L646L 1938C>T BRCA-EU 1 197144718 197144718 single base substitution G A intron_variant BRCA-EU 1 197145703 197145703 deletion of <=200bp T - exon_variant BRCA-EU 1 197145703 197145703 deletion of <=200bp T - frameshift_variant I624 BRCA-EU 1 197146847 197146847 single base substitution A C intron_variant BRCA-EU 1 197148222 197148222 single base substitution A T intron_variant BRCA-EU 1 197148449 197148449 single base substitution T A intron_variant BRCA-EU 1 197148661 197148661 single base substitution A G intron_variant BRCA-EU 1 197149276 197149276 single base substitution C T intron_variant BRCA-EU 1 197149611 197149637 deletion of <=200bp ATGGTGCTCTTCTACAAGGCCCACCAA - intron_variant BRCA-EU 1 197150776 197150776 single base substitution G A intron_variant BRCA-EU 1 197151206 197151206 insertion of <=200bp - A intron_variant BRCA-EU 1 197151672 197151685 deletion of <=200bp TGAGATTACAGACG - intron_variant BRCA-EU 1 197152701 197152701 single base substitution A G intron_variant BRCA-EU 1 197153140 197153140 single base substitution A T intron_variant BRCA-EU 1 197153727 197153727 single base substitution C A intron_variant BRCA-EU 1 197153729 197153729 single base substitution G A intron_variant BRCA-EU 1 197153789 197153789 single base substitution T C intron_variant BRCA-EU 1 197154329 197154329 single base substitution T A intron_variant BRCA-EU 1 197155108 197155108 single base substitution G A intron_variant BRCA-EU 1 197155694 197155694 single base substitution G C intron_variant BRCA-EU 1 197155717 197155717 single base substitution C T intron_variant BRCA-EU 1 197156946 197156946 deletion of <=200bp A - intron_variant BRCA-EU 1 197157459 197157459 single base substitution C T exon_variant BRCA-EU 1 197157459 197157459 single base substitution C T synonymous_variant R503R 1509G>A BRCA-EU 1 197158223 197158223 single base substitution A G intron_variant BRCA-EU 1 197159183 197159183 single base substitution G A intron_variant BRCA-EU 1 197159216 197159216 deletion of <=200bp T - intron_variant BRCA-EU 1 197159592 197159592 single base substitution C T intron_variant BRCA-EU 1 197160182 197160182 single base substitution T G intron_variant BRCA-EU 1 197160200 197160200 single base substitution C G intron_variant BRCA-EU 1 197161157 197161157 single base substitution G T intron_variant BRCA-EU 1 197161169 197161169 single base substitution C T intron_variant BRCA-EU 1 197161270 197161270 single base substitution C T intron_variant BRCA-EU 1 197161276 197161276 single base substitution C T intron_variant BRCA-EU 1 197161420 197161420 single base substitution C T intron_variant BRCA-EU 1 197161491 197161491 single base substitution G A intron_variant BRCA-EU 1 197161525 197161525 single base substitution C A intron_variant BRCA-EU 1 197161981 197161981 single base substitution C A intron_variant BRCA-EU 1 197162156 197162156 single base substitution A G intron_variant BRCA-EU 1 197162236 197162236 single base substitution C G intron_variant BRCA-EU 1 197162526 197162526 deletion of <=200bp C - intron_variant BRCA-EU 1 197162579 197162579 single base substitution C T intron_variant BRCA-EU 1 197162591 197162591 single base substitution C T intron_variant BRCA-EU 1 197162728 197162728 single base substitution C G intron_variant BRCA-EU 1 197162836 197162836 single base substitution C G intron_variant BRCA-EU 1 197163056 197163056 single base substitution C A intron_variant BRCA-EU 1 197163241 197163241 single base substitution C T intron_variant BRCA-EU 1 197163813 197163813 single base substitution G C intron_variant BRCA-EU 1 197164538 197164538 single base substitution G C intron_variant BRCA-EU 1 197164727 197164727 deletion of <=200bp T - intron_variant BRCA-EU 1 197166153 197166211 deletion of <=200bp CATTTCATATTTGTTTAATAATGTTTGGCAGCTTAGAGACAATAAATATGCTAGAACAC - intron_variant BRCA-EU 1 197166389 197166389 deletion of <=200bp A - intron_variant BRCA-EU 1 197167304 197167304 single base substitution G T intron_variant BRCA-EU 1 197167332 197167332 single base substitution C T intron_variant BRCA-EU 1 197167619 197167619 deletion of <=200bp T - intron_variant BRCA-EU 1 197168526 197168526 deletion of <=200bp T - exon_variant BRCA-EU 1 197168526 197168526 deletion of <=200bp T - frameshift_variant I360 BRCA-EU 1 197168684 197168684 single base substitution T C exon_variant BRCA-EU 1 197168684 197168684 single base substitution T C missense_variant D307G 920A>G BRCA-EU 1 197169053 197169053 single base substitution G A exon_variant BRCA-EU 1 197169053 197169053 single base substitution G A missense_variant S184L 551C>T BRCA-EU 1 197170643 197170643 single base substitution C T upstream_gene_variant BRCA-EU 1 197172453 197172453 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 197174036 197174036 single base substitution C G upstream_gene_variant BRCA-EU 1 197174073 197174073 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 197174272 197174272 single base substitution C T upstream_gene_variant BRCA-FR 1 197119098 197119098 single base substitution C T downstream_gene_variant BRCA-FR 1 197120785 197120785 single base substitution G T downstream_gene_variant BRCA-FR 1 197130442 197130442 single base substitution G C intron_variant BRCA-FR 1 197134544 197134544 single base substitution C G intron_variant BRCA-FR 1 197134632 197134632 single base substitution C G intron_variant BRCA-FR 1 197136577 197136577 single base substitution G C intron_variant BRCA-FR 1 197148521 197148521 single base substitution C G intron_variant BRCA-FR 1 197149276 197149276 single base substitution C T intron_variant BRCA-FR 1 197153727 197153727 single base substitution C A intron_variant BRCA-FR 1 197153729 197153729 single base substitution G A intron_variant BRCA-FR 1 197153789 197153789 single base substitution T C intron_variant BRCA-FR 1 197155108 197155108 single base substitution G A intron_variant BRCA-FR 1 197159183 197159183 single base substitution G A intron_variant BRCA-FR 1 197161169 197161169 single base substitution C T intron_variant BRCA-FR 1 197163813 197163813 single base substitution G C intron_variant BRCA-FR 1 197164297 197164297 single base substitution G A intron_variant BRCA-FR 1 197167304 197167304 single base substitution G T intron_variant BRCA-FR 1 197169053 197169053 single base substitution G A exon_variant BRCA-FR 1 197169053 197169053 single base substitution G A missense_variant S184L 551C>T BRCA-UK 1 197122473 197122473 single base substitution G A downstream_gene_variant BRCA-UK 1 197128887 197128887 single base substitution G C exon_variant BRCA-UK 1 197128887 197128887 single base substitution G C missense_variant Q778E 2332C>G BRCA-UK 1 197136636 197136636 single base substitution G C intron_variant BRCA-UK 1 197144179 197144179 single base substitution T G exon_variant BRCA-UK 1 197144179 197144179 single base substitution T G missense_variant H649P 1946A>C BRCA-UK 1 197154070 197154070 single base substitution G A intron_variant BRCA-UK 1 197160922 197160922 single base substitution T G exon_variant BRCA-UK 1 197160922 197160922 single base substitution T G missense_variant K410Q 1228A>C BRCA-US 1 197128626 197128626 single base substitution G A exon_variant BRCA-US 1 197128626 197128626 single base substitution G A stop_gained Q865* 2593C>T BRCA-US 1 197128914 197128914 single base substitution C G exon_variant BRCA-US 1 197128914 197128914 single base substitution C G missense_variant E769Q 2305G>C BRCA-US 1 197144179 197144179 single base substitution T C exon_variant BRCA-US 1 197144179 197144179 single base substitution T C missense_variant H649R 1946A>G BRCA-US 1 197168890 197168890 deletion of <=200bp T - exon_variant BRCA-US 1 197168890 197168890 deletion of <=200bp T - frameshift_variant K238 BRCA-US 1 197169214 197169214 single base substitution G A exon_variant BRCA-US 1 197169214 197169214 single base substitution G A synonymous_variant H130H 390C>T BRCA-US 1 197169225 197169225 single base substitution T G exon_variant BRCA-US 1 197169225 197169225 single base substitution T G missense_variant T127P 379A>C BRCA-US 1 197169434 197169437 deletion of <=200bp GAGG - exon_variant BRCA-US 1 197169434 197169437 deletion of <=200bp GAGG - frameshift_variant PS56 BRCA-US 1 197169544 197169544 single base substitution T G exon_variant BRCA-US 1 197169544 197169544 single base substitution T G missense_variant K20N 60A>C BTCA-JP 1 197128607 197128607 single base substitution T C exon_variant BTCA-JP 1 197128607 197128607 single base substitution T C missense_variant H871R 2612A>G BTCA-JP 1 197128866 197128866 single base substitution T C exon_variant BTCA-JP 1 197128866 197128866 single base substitution T C missense_variant M785V 2353A>G BTCA-JP 1 197128989 197128989 single base substitution C G exon_variant BTCA-JP 1 197128989 197128989 single base substitution C G missense_variant D744H 2230G>C BTCA-JP 1 197141251 197141251 single base substitution C A intron_variant BTCA-JP 1 197147506 197147506 single base substitution T A intron_variant BTCA-JP 1 197147671 197147671 single base substitution T C intron_variant BTCA-JP 1 197150257 197150257 deletion of <=200bp A - intron_variant CESC-US 1 197128511 197128511 single base substitution G C exon_variant CESC-US 1 197128511 197128511 single base substitution G C missense_variant S903C 2708C>G CESC-US 1 197128956 197128956 single base substitution G A exon_variant CESC-US 1 197128956 197128956 single base substitution G A missense_variant P755S 2263C>T CESC-US 1 197169636 197169636 single base substitution A G 5_prime_UTR_variant CESC-US 1 197169636 197169636 single base substitution A G exon_variant CLLE-ES 1 197132774 197132774 single base substitution C T intron_variant CLLE-ES 1 197132990 197132990 single base substitution A G intron_variant CLLE-ES 1 197133932 197133932 single base substitution A C intron_variant CLLE-ES 1 197159531 197159531 single base substitution C T intron_variant CLLE-ES 1 197159934 197159934 single base substitution A C exon_variant CLLE-ES 1 197159934 197159934 single base substitution A C missense_variant F452L 1356T>G COAD-US 1 197129054 197129054 single base substitution C T exon_variant COAD-US 1 197129054 197129054 single base substitution C T missense_variant R722Q 2165G>A COAD-US 1 197147565 197147565 single base substitution C T exon_variant COAD-US 1 197147565 197147565 single base substitution C T missense_variant R585H 1754G>A COAD-US 1 197150182 197150182 insertion of <=200bp - TA exon_variant COAD-US 1 197150182 197150182 insertion of <=200bp - TA frameshift_variant E538V? COAD-US 1 197160890 197160892 deletion of <=200bp CTT - exon_variant COAD-US 1 197160890 197160892 deletion of <=200bp CTT - inframe_deletion K420 COAD-US 1 197160904 197160904 single base substitution C A exon_variant COAD-US 1 197160904 197160904 single base substitution C A stop_gained E416* 1246G>T COAD-US 1 197168729 197168729 single base substitution C A exon_variant COAD-US 1 197168729 197168729 single base substitution C A missense_variant R292I 875G>T COAD-US 1 197168835 197168835 single base substitution G A exon_variant COAD-US 1 197168835 197168835 single base substitution G A missense_variant R257W 769C>T COAD-US 1 197168889 197168889 insertion of <=200bp - T exon_variant COAD-US 1 197168889 197168889 insertion of <=200bp - T frameshift_variant H239Q? COAD-US 1 197168890 197168890 deletion of <=200bp T - exon_variant COAD-US 1 197168890 197168890 deletion of <=200bp T - frameshift_variant K238 COAD-US 1 197169111 197169111 single base substitution A C exon_variant COAD-US 1 197169111 197169111 single base substitution A C missense_variant L165V 493T>G COCA-CN 1 197141251 197141251 single base substitution C A intron_variant COCA-CN 1 197144242 197144242 single base substitution T C exon_variant COCA-CN 1 197144242 197144242 single base substitution T C missense_variant E628G 1883A>G COCA-CN 1 197157321 197157321 single base substitution C A intron_variant COCA-CN 1 197159137 197159137 single base substitution C A intron_variant COCA-CN 1 197168942 197168942 single base substitution G T exon_variant COCA-CN 1 197168942 197168942 single base substitution G T missense_variant S221Y 662C>A COCA-CN 1 197169392 197169392 single base substitution T G exon_variant COCA-CN 1 197169392 197169392 single base substitution T G missense_variant K71T 212A>C EOPC-DE 1 197163294 197163294 single base substitution A G intron_variant ESAD-UK 1 197118952 197118952 single base substitution C A downstream_gene_variant ESAD-UK 1 197119146 197119148 deletion of <=200bp TAG - downstream_gene_variant ESAD-UK 1 197119452 197119452 single base substitution C A downstream_gene_variant ESAD-UK 1 197120196 197120196 single base substitution A G downstream_gene_variant ESAD-UK 1 197120751 197120751 single base substitution G A downstream_gene_variant ESAD-UK 1 197123465 197123465 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 197123465 197123465 single base substitution C T downstream_gene_variant ESAD-UK 1 197123537 197123537 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 197123537 197123537 single base substitution G A downstream_gene_variant ESAD-UK 1 197124868 197124868 single base substitution G C 3_prime_UTR_variant ESAD-UK 1 197124868 197124868 single base substitution G C downstream_gene_variant ESAD-UK 1 197125114 197125114 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 197125114 197125114 single base substitution C T downstream_gene_variant ESAD-UK 1 197125492 197125492 single base substitution T A 3_prime_UTR_variant ESAD-UK 1 197125492 197125492 single base substitution T A downstream_gene_variant ESAD-UK 1 197126940 197126940 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 197126940 197126940 single base substitution G A downstream_gene_variant ESAD-UK 1 197127223 197127223 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 197127223 197127223 single base substitution G A downstream_gene_variant ESAD-UK 1 197128183 197128183 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 197128183 197128183 single base substitution G A exon_variant ESAD-UK 1 197128785 197128785 single base substitution G A exon_variant ESAD-UK 1 197128785 197128785 single base substitution G A synonymous_variant L812L 2434C>T ESAD-UK 1 197129190 197129190 single base substitution C G intron_variant ESAD-UK 1 197129540 197129540 single base substitution T A intron_variant ESAD-UK 1 197131584 197131584 single base substitution G A intron_variant ESAD-UK 1 197131743 197131743 single base substitution G A intron_variant ESAD-UK 1 197133622 197133622 single base substitution A G intron_variant ESAD-UK 1 197133957 197133957 single base substitution A G intron_variant ESAD-UK 1 197134584 197134584 single base substitution A C intron_variant ESAD-UK 1 197134909 197134909 single base substitution A T intron_variant ESAD-UK 1 197135468 197135468 single base substitution A C intron_variant ESAD-UK 1 197136226 197136226 deletion of <=200bp A - intron_variant ESAD-UK 1 197136294 197136294 single base substitution A G intron_variant ESAD-UK 1 197136810 197136810 insertion of <=200bp - A intron_variant ESAD-UK 1 197137003 197137003 single base substitution C A intron_variant ESAD-UK 1 197139395 197139395 single base substitution A G intron_variant ESAD-UK 1 197140011 197140011 single base substitution C T intron_variant ESAD-UK 1 197141249 197141249 single base substitution C A intron_variant ESAD-UK 1 197141732 197141732 single base substitution G T intron_variant ESAD-UK 1 197145468 197145468 single base substitution T C intron_variant ESAD-UK 1 197146151 197146151 single base substitution A G intron_variant ESAD-UK 1 197146355 197146355 single base substitution G A intron_variant ESAD-UK 1 197146845 197146845 single base substitution C A intron_variant ESAD-UK 1 197148926 197148926 single base substitution C A intron_variant ESAD-UK 1 197149701 197149701 single base substitution C T intron_variant ESAD-UK 1 197150981 197150981 single base substitution A T intron_variant ESAD-UK 1 197150990 197150990 single base substitution G C intron_variant ESAD-UK 1 197152151 197152151 single base substitution A C intron_variant ESAD-UK 1 197152170 197152170 single base substitution G C intron_variant ESAD-UK 1 197155517 197155517 single base substitution C T intron_variant ESAD-UK 1 197156021 197156021 single base substitution C A intron_variant ESAD-UK 1 197157619 197157619 single base substitution T C intron_variant ESAD-UK 1 197158093 197158093 single base substitution G A intron_variant ESAD-UK 1 197160500 197160500 single base substitution T C intron_variant ESAD-UK 1 197160725 197160725 single base substitution G A intron_variant ESAD-UK 1 197162525 197162525 single base substitution A C intron_variant ESAD-UK 1 197164034 197164034 single base substitution A T intron_variant ESAD-UK 1 197164058 197164058 single base substitution G A intron_variant ESAD-UK 1 197167942 197167942 single base substitution T C intron_variant ESAD-UK 1 197169176 197169176 single base substitution A C exon_variant ESAD-UK 1 197169176 197169176 single base substitution A C missense_variant L143R 428T>G ESAD-UK 1 197170205 197170205 single base substitution A G upstream_gene_variant ESAD-UK 1 197171894 197171894 single base substitution T G upstream_gene_variant ESAD-UK 1 197172948 197172948 single base substitution G A upstream_gene_variant ESAD-UK 1 197174314 197174314 single base substitution G C upstream_gene_variant ESCA-CN 1 197145689 197145689 single base substitution T C splice_region_variant ESCA-CN 1 197150256 197150256 single base substitution G A intron_variant ESCA-CN 1 197168661 197168661 single base substitution C A exon_variant ESCA-CN 1 197168661 197168661 single base substitution C A missense_variant D315Y 943G>T ESCA-CN 1 197168942 197168942 single base substitution G C exon_variant ESCA-CN 1 197168942 197168942 single base substitution G C missense_variant S221C 662C>G ESCA-CN 1 197168967 197168967 single base substitution T C exon_variant ESCA-CN 1 197168967 197168967 single base substitution T C missense_variant S213G 637A>G ESCA-CN 1 197168992 197168992 single base substitution T G exon_variant ESCA-CN 1 197168992 197168992 single base substitution T G synonymous_variant S204S 612A>C ESCA-CN 1 197169051 197169051 single base substitution C T exon_variant ESCA-CN 1 197169051 197169051 single base substitution C T missense_variant E185K 553G>A KIRC-US 1 197159944 197159944 single base substitution G T exon_variant KIRC-US 1 197159944 197159944 single base substitution G T missense_variant A449E 1346C>A KIRC-US 1 197159958 197159959 deletion of <=200bp AA - frameshift_variant F444 KIRC-US 1 197159958 197159959 deletion of <=200bp AA - splice_region_variant KIRC-US 1 197168567 197168567 single base substitution T C exon_variant KIRC-US 1 197168567 197168567 single base substitution T C missense_variant E346G 1037A>G KIRC-US 1 197169423 197169423 single base substitution T C exon_variant KIRC-US 1 197169423 197169423 single base substitution T C missense_variant R61G 181A>G LAML-KR 1 197160024 197160024 single base substitution G A intron_variant LAML-KR 1 197168625 197168625 single base substitution C A exon_variant LAML-KR 1 197168625 197168625 single base substitution C A missense_variant D327Y 979G>T LIAD-FR 1 197160875 197160875 single base substitution A C exon_variant LIAD-FR 1 197160875 197160875 single base substitution A C synonymous_variant P425P 1275T>G LICA-FR 1 197129881 197129881 single base substitution T C intron_variant LICA-FR 1 197133549 197133549 single base substitution A C intron_variant LICA-FR 1 197134609 197134609 single base substitution A G intron_variant LICA-FR 1 197143846 197143847 deletion of <=200bp TA - intron_variant LICA-FR 1 197160900 197160900 single base substitution A C exon_variant LICA-FR 1 197160900 197160900 single base substitution A C missense_variant F417C 1250T>G LICA-FR 1 197163764 197163764 single base substitution G A intron_variant LICA-FR 1 197168579 197168579 single base substitution C T exon_variant LICA-FR 1 197168579 197168579 single base substitution C T missense_variant G342E 1025G>A LICA-FR 1 197168896 197168896 single base substitution C T exon_variant LICA-FR 1 197168896 197168896 single base substitution C T synonymous_variant G236G 708G>A LIHC-US 1 197169179 197169179 single base substitution A G exon_variant LIHC-US 1 197169179 197169179 single base substitution A G missense_variant F142S 425T>C LINC-JP 1 197119710 197119710 single base substitution C T downstream_gene_variant LINC-JP 1 197133507 197133507 single base substitution G A intron_variant LINC-JP 1 197133651 197133651 single base substitution C G intron_variant LINC-JP 1 197145746 197145746 single base substitution T C exon_variant LINC-JP 1 197145746 197145746 single base substitution T C synonymous_variant G609G 1827A>G LINC-JP 1 197145947 197145947 single base substitution G T intron_variant LINC-JP 1 197147619 197147619 single base substitution C T exon_variant LINC-JP 1 197147619 197147619 single base substitution C T missense_variant R567K 1700G>A LINC-JP 1 197152497 197152497 single base substitution A T intron_variant LINC-JP 1 197159395 197159395 single base substitution T C intron_variant LINC-JP 1 197160897 197160897 single base substitution T C exon_variant LINC-JP 1 197160897 197160897 single base substitution T C missense_variant H418R 1253A>G LINC-JP 1 197162352 197162352 single base substitution A G intron_variant LINC-JP 1 197164336 197164336 single base substitution G T intron_variant LINC-JP 1 197165569 197165569 single base substitution G A intron_variant LINC-JP 1 197170445 197170445 single base substitution C T upstream_gene_variant LIRI-JP 1 197118579 197118579 single base substitution A G downstream_gene_variant LIRI-JP 1 197120404 197120404 single base substitution G A downstream_gene_variant LIRI-JP 1 197121410 197121410 single base substitution C T downstream_gene_variant LIRI-JP 1 197122301 197122301 single base substitution T C downstream_gene_variant LIRI-JP 1 197130772 197130772 deletion of <=200bp G - intron_variant LIRI-JP 1 197131827 197131827 single base substitution C T intron_variant LIRI-JP 1 197136184 197136184 single base substitution A C intron_variant LIRI-JP 1 197138081 197138081 single base substitution G T intron_variant LIRI-JP 1 197138924 197138924 single base substitution C A intron_variant LIRI-JP 1 197142190 197142190 single base substitution T C intron_variant LIRI-JP 1 197143332 197143332 single base substitution C A intron_variant LIRI-JP 1 197143508 197143508 single base substitution A G intron_variant LIRI-JP 1 197145230 197145230 single base substitution T A intron_variant LIRI-JP 1 197146505 197146505 single base substitution G T intron_variant LIRI-JP 1 197147572 197147572 insertion of <=200bp - T exon_variant LIRI-JP 1 197147572 197147572 insertion of <=200bp - T frameshift_variant S583K? LIRI-JP 1 197149688 197149688 single base substitution T G intron_variant LIRI-JP 1 197149737 197149737 single base substitution T C intron_variant LIRI-JP 1 197151653 197151653 single base substitution C T intron_variant LIRI-JP 1 197151903 197151903 single base substitution C A intron_variant LIRI-JP 1 197153502 197153502 single base substitution G A intron_variant LIRI-JP 1 197153958 197153958 single base substitution T A intron_variant LIRI-JP 1 197154117 197154117 single base substitution T C intron_variant LIRI-JP 1 197154894 197154894 single base substitution T C intron_variant LIRI-JP 1 197156100 197156100 single base substitution C A intron_variant LIRI-JP 1 197158864 197158864 single base substitution T C intron_variant LIRI-JP 1 197158878 197158878 single base substitution T C intron_variant LIRI-JP 1 197160378 197160378 single base substitution C T intron_variant LIRI-JP 1 197161373 197161373 single base substitution T C intron_variant LIRI-JP 1 197161413 197161413 single base substitution T C intron_variant LIRI-JP 1 197161620 197161620 single base substitution T C intron_variant LIRI-JP 1 197162307 197162307 single base substitution C T intron_variant LIRI-JP 1 197163989 197163989 insertion of <=200bp - A intron_variant LIRI-JP 1 197168417 197168417 single base substitution T G intron_variant LIRI-JP 1 197171656 197171656 single base substitution A T upstream_gene_variant LIRI-JP 1 197172511 197172511 single base substitution G T upstream_gene_variant LIRI-JP 1 197174545 197174545 single base substitution A G upstream_gene_variant LUSC-KR 1 197118712 197118712 single base substitution T C downstream_gene_variant LUSC-KR 1 197123043 197123043 single base substitution T C 3_prime_UTR_variant LUSC-KR 1 197123043 197123043 single base substitution T C downstream_gene_variant LUSC-KR 1 197127983 197127983 single base substitution T A 3_prime_UTR_variant LUSC-KR 1 197127983 197127983 single base substitution T A exon_variant LUSC-KR 1 197128209 197128209 single base substitution C G 3_prime_UTR_variant LUSC-KR 1 197128209 197128209 single base substitution C G exon_variant LUSC-KR 1 197132798 197132798 single base substitution C G intron_variant LUSC-KR 1 197136623 197136623 single base substitution C G intron_variant LUSC-KR 1 197139491 197139491 single base substitution T G intron_variant LUSC-KR 1 197142424 197142424 single base substitution C A intron_variant LUSC-KR 1 197147471 197147471 single base substitution A C intron_variant LUSC-KR 1 197149779 197149779 single base substitution T C intron_variant LUSC-KR 1 197151096 197151096 single base substitution C T intron_variant LUSC-KR 1 197152334 197152334 single base substitution G A intron_variant LUSC-KR 1 197157468 197157468 single base substitution A T exon_variant LUSC-KR 1 197157468 197157468 single base substitution A T missense_variant F500L 1500T>A LUSC-KR 1 197160722 197160722 single base substitution A G intron_variant LUSC-KR 1 197166713 197166713 single base substitution G A intron_variant LUSC-KR 1 197166714 197166714 single base substitution C G intron_variant LUSC-KR 1 197168025 197168025 single base substitution C G intron_variant LUSC-KR 1 197170404 197170404 single base substitution G C upstream_gene_variant LUSC-KR 1 197170516 197170516 single base substitution A T upstream_gene_variant LUSC-KR 1 197173346 197173346 single base substitution A G upstream_gene_variant LUSC-KR 1 197173727 197173727 single base substitution C T upstream_gene_variant LUSC-US 1 197150130 197150130 single base substitution G A exon_variant LUSC-US 1 197150130 197150130 single base substitution G A missense_variant S555L 1664C>T LUSC-US 1 197160934 197160934 single base substitution C A exon_variant LUSC-US 1 197160934 197160934 single base substitution C A missense_variant V406F 1216G>T LUSC-US 1 197168544 197168544 single base substitution G C exon_variant LUSC-US 1 197168544 197168544 single base substitution G C missense_variant Q354E 1060C>G LUSC-US 1 197169465 197169465 single base substitution C T exon_variant LUSC-US 1 197169465 197169465 single base substitution C T missense_variant A47T 139G>A MALY-DE 1 197120662 197120662 single base substitution A G downstream_gene_variant MALY-DE 1 197127229 197127229 single base substitution A G 3_prime_UTR_variant MALY-DE 1 197127229 197127229 single base substitution A G downstream_gene_variant MALY-DE 1 197133260 197133260 single base substitution A T intron_variant MALY-DE 1 197133817 197133818 deletion of <=200bp AG - intron_variant MALY-DE 1 197134879 197134879 insertion of <=200bp - A intron_variant MALY-DE 1 197136500 197136500 single base substitution A T intron_variant MALY-DE 1 197137057 197137058 deletion of <=200bp AG - intron_variant MALY-DE 1 197138126 197138126 single base substitution A G intron_variant MALY-DE 1 197138778 197138778 single base substitution A G intron_variant MALY-DE 1 197140911 197140911 single base substitution G T intron_variant MALY-DE 1 197141251 197141251 single base substitution C A intron_variant MALY-DE 1 197141333 197141333 single base substitution A G exon_variant MALY-DE 1 197141333 197141333 single base substitution A G synonymous_variant F677F 2031T>C MALY-DE 1 197141916 197141916 single base substitution G A intron_variant MALY-DE 1 197142039 197142039 single base substitution A C intron_variant MALY-DE 1 197142099 197142099 single base substitution G A intron_variant MALY-DE 1 197150752 197150752 single base substitution C T intron_variant MALY-DE 1 197151314 197151314 single base substitution T C intron_variant MALY-DE 1 197154219 197154219 single base substitution C T intron_variant MALY-DE 1 197159704 197159704 single base substitution C T intron_variant MALY-DE 1 197165123 197165123 single base substitution A G intron_variant MALY-DE 1 197168117 197168117 single base substitution A C intron_variant MALY-DE 1 197169277 197169277 deletion of <=200bp G - exon_variant MALY-DE 1 197169277 197169277 deletion of <=200bp G - frameshift_variant G109 MALY-DE 1 197170748 197170748 single base substitution G C upstream_gene_variant MALY-DE 1 197171631 197171631 single base substitution G A upstream_gene_variant MALY-DE 1 197173856 197173856 single base substitution T C upstream_gene_variant MELA-AU 1 197118080 197118080 single base substitution G A downstream_gene_variant MELA-AU 1 197118237 197118237 single base substitution G A downstream_gene_variant MELA-AU 1 197118469 197118469 single base substitution A G downstream_gene_variant MELA-AU 1 197119241 197119241 single base substitution G A downstream_gene_variant MELA-AU 1 197120201 197120201 single base substitution G A downstream_gene_variant MELA-AU 1 197120518 197120518 single base substitution G A downstream_gene_variant MELA-AU 1 197120942 197120942 single base substitution A T downstream_gene_variant MELA-AU 1 197121113 197121113 single base substitution A G downstream_gene_variant MELA-AU 1 197121627 197121627 single base substitution G A downstream_gene_variant MELA-AU 1 197121946 197121946 single base substitution G A downstream_gene_variant MELA-AU 1 197121994 197121994 single base substitution G A downstream_gene_variant MELA-AU 1 197122321 197122321 single base substitution A G downstream_gene_variant MELA-AU 1 197123374 197123374 single base substitution C T 3_prime_UTR_variant MELA-AU 1 197123374 197123374 single base substitution C T downstream_gene_variant MELA-AU 1 197123564 197123564 single base substitution G A 3_prime_UTR_variant MELA-AU 1 197123564 197123564 single base substitution G A downstream_gene_variant MELA-AU 1 197124689 197124689 single base substitution G A 3_prime_UTR_variant MELA-AU 1 197124689 197124689 single base substitution G A downstream_gene_variant MELA-AU 1 197124903 197124903 single base substitution A T 3_prime_UTR_variant MELA-AU 1 197124903 197124903 single base substitution A T downstream_gene_variant MELA-AU 1 197125345 197125345 single base substitution T A 3_prime_UTR_variant MELA-AU 1 197125345 197125345 single base substitution T A downstream_gene_variant MELA-AU 1 197125439 197125439 single base substitution T A 3_prime_UTR_variant MELA-AU 1 197125439 197125439 single base substitution T A downstream_gene_variant MELA-AU 1 197126712 197126712 single base substitution A T 3_prime_UTR_variant MELA-AU 1 197126712 197126712 single base substitution A T downstream_gene_variant MELA-AU 1 197127232 197127232 single base substitution G A 3_prime_UTR_variant MELA-AU 1 197127232 197127232 single base substitution G A downstream_gene_variant MELA-AU 1 197127812 197127812 single base substitution G A 3_prime_UTR_variant MELA-AU 1 197127812 197127812 single base substitution G A exon_variant MELA-AU 1 197127920 197127920 single base substitution G A 3_prime_UTR_variant MELA-AU 1 197127920 197127920 single base substitution G A exon_variant MELA-AU 1 197128135 197128135 single base substitution G A 3_prime_UTR_variant MELA-AU 1 197128135 197128135 single base substitution G A exon_variant MELA-AU 1 197128231 197128231 single base substitution A C 3_prime_UTR_variant MELA-AU 1 197128231 197128231 single base substitution A C exon_variant MELA-AU 1 197128567 197128567 single base substitution T C exon_variant MELA-AU 1 197128567 197128567 single base substitution T C synonymous_variant Q884Q 2652A>G MELA-AU 1 197128628 197128628 single base substitution G A exon_variant MELA-AU 1 197128628 197128628 single base substitution G A missense_variant P864L 2591C>T MELA-AU 1 197128727 197128727 single base substitution A T exon_variant MELA-AU 1 197128727 197128727 single base substitution A T missense_variant L831H 2492T>A MELA-AU 1 197128929 197128961 deletion of <=200bp CAAGTTTTTCCTCAGAAGTACTGAGAGGATCAT - disruptive_inframe_deletion DDPLSTSEEKLV753V MELA-AU 1 197128929 197128961 deletion of <=200bp CAAGTTTTTCCTCAGAAGTACTGAGAGGATCAT - exon_variant MELA-AU 1 197129646 197129646 single base substitution G A intron_variant MELA-AU 1 197129717 197129717 single base substitution G A intron_variant MELA-AU 1 197130519 197130519 single base substitution C T intron_variant MELA-AU 1 197131051 197131051 single base substitution C A intron_variant MELA-AU 1 197131149 197131149 single base substitution A T intron_variant MELA-AU 1 197131327 197131327 single base substitution T A intron_variant MELA-AU 1 197131382 197131382 single base substitution G A intron_variant MELA-AU 1 197131524 197131524 single base substitution G A intron_variant MELA-AU 1 197131545 197131545 single base substitution G A intron_variant MELA-AU 1 197131627 197131627 single base substitution G A intron_variant MELA-AU 1 197131762 197131762 single base substitution G A intron_variant MELA-AU 1 197132040 197132040 single base substitution A G intron_variant MELA-AU 1 197132506 197132506 single base substitution A G intron_variant MELA-AU 1 197132521 197132521 single base substitution A G intron_variant MELA-AU 1 197132524 197132524 single base substitution A G intron_variant MELA-AU 1 197132570 197132570 single base substitution G A intron_variant MELA-AU 1 197132842 197132842 single base substitution G A intron_variant MELA-AU 1 197132882 197132882 single base substitution C T intron_variant MELA-AU 1 197133851 197133851 single base substitution T A intron_variant MELA-AU 1 197134015 197134015 single base substitution T G intron_variant MELA-AU 1 197134144 197134144 single base substitution G A intron_variant MELA-AU 1 197134530 197134530 single base substitution G A intron_variant MELA-AU 1 197134551 197134551 single base substitution A G intron_variant MELA-AU 1 197134673 197134673 single base substitution G A intron_variant MELA-AU 1 197134881 197134881 single base substitution A C intron_variant MELA-AU 1 197135459 197135459 single base substitution T C intron_variant MELA-AU 1 197135993 197135993 single base substitution A C intron_variant MELA-AU 1 197136195 197136195 single base substitution G A intron_variant MELA-AU 1 197136497 197136497 single base substitution G A intron_variant MELA-AU 1 197136892 197136892 insertion of <=200bp - A intron_variant MELA-AU 1 197137071 197137071 single base substitution T A intron_variant MELA-AU 1 197137096 197137096 single base substitution G A intron_variant MELA-AU 1 197137278 197137278 single base substitution G A intron_variant MELA-AU 1 197137816 197137816 single base substitution A C intron_variant MELA-AU 1 197138283 197138283 single base substitution G A intron_variant MELA-AU 1 197139178 197139178 single base substitution G A intron_variant MELA-AU 1 197139499 197139499 single base substitution C T intron_variant MELA-AU 1 197139638 197139638 single base substitution T C intron_variant MELA-AU 1 197140854 197140854 single base substitution G A intron_variant MELA-AU 1 197141858 197141858 single base substitution G A intron_variant MELA-AU 1 197141947 197141947 single base substitution C T intron_variant MELA-AU 1 197142007 197142007 single base substitution A G intron_variant MELA-AU 1 197142756 197142756 single base substitution G A intron_variant MELA-AU 1 197142805 197142805 single base substitution G C intron_variant MELA-AU 1 197142823 197142823 single base substitution A T intron_variant MELA-AU 1 197142986 197142986 single base substitution G A intron_variant MELA-AU 1 197143361 197143361 single base substitution A T intron_variant MELA-AU 1 197143765 197143765 single base substitution A T intron_variant MELA-AU 1 197143968 197143968 single base substitution G A intron_variant MELA-AU 1 197144469 197144469 single base substitution G A intron_variant MELA-AU 1 197144914 197144914 single base substitution C T intron_variant MELA-AU 1 197144984 197144984 single base substitution G A intron_variant MELA-AU 1 197145152 197145152 single base substitution G A intron_variant MELA-AU 1 197145152 197145152 single base substitution G A splice_region_variant MELA-AU 1 197145836 197145836 single base substitution G A intron_variant MELA-AU 1 197146748 197146748 single base substitution T A intron_variant MELA-AU 1 197146770 197146770 single base substitution C T intron_variant MELA-AU 1 197146797 197146797 single base substitution T G intron_variant MELA-AU 1 197147341 197147341 single base substitution A T intron_variant MELA-AU 1 197147362 197147362 single base substitution T C intron_variant MELA-AU 1 197147497 197147497 single base substitution G C intron_variant MELA-AU 1 197152074 197152074 single base substitution G A intron_variant MELA-AU 1 197152126 197152126 single base substitution G A intron_variant MELA-AU 1 197152380 197152380 single base substitution G A intron_variant MELA-AU 1 197152952 197152953 multiple base substitution (>=2bp and <=200bp) GC TT intron_variant MELA-AU 1 197152986 197152986 single base substitution A T intron_variant MELA-AU 1 197153292 197153292 single base substitution C T intron_variant MELA-AU 1 197154695 197154695 single base substitution G A intron_variant MELA-AU 1 197154841 197154841 single base substitution G T intron_variant MELA-AU 1 197154976 197154976 single base substitution G A intron_variant MELA-AU 1 197155361 197155361 single base substitution G A intron_variant MELA-AU 1 197156508 197156509 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 197157263 197157263 single base substitution G A intron_variant MELA-AU 1 197157300 197157300 single base substitution C T intron_variant MELA-AU 1 197157589 197157589 single base substitution A T intron_variant MELA-AU 1 197157680 197157680 single base substitution A G intron_variant MELA-AU 1 197157752 197157752 single base substitution G A intron_variant MELA-AU 1 197157979 197157979 single base substitution G A intron_variant MELA-AU 1 197158107 197158107 single base substitution G A intron_variant MELA-AU 1 197158309 197158309 single base substitution G A intron_variant MELA-AU 1 197158324 197158324 single base substitution G A intron_variant MELA-AU 1 197158346 197158346 single base substitution G A intron_variant MELA-AU 1 197160320 197160320 single base substitution T G intron_variant MELA-AU 1 197160404 197160405 deletion of <=200bp AT - intron_variant MELA-AU 1 197160470 197160470 single base substitution C T intron_variant MELA-AU 1 197160731 197160731 single base substitution G A intron_variant MELA-AU 1 197161754 197161754 single base substitution G A intron_variant MELA-AU 1 197161848 197161848 single base substitution G C intron_variant MELA-AU 1 197162091 197162091 single base substitution G A intron_variant MELA-AU 1 197162543 197162543 single base substitution C T intron_variant MELA-AU 1 197164473 197164473 single base substitution G A intron_variant MELA-AU 1 197164497 197164497 single base substitution T G intron_variant MELA-AU 1 197164972 197164972 single base substitution G A intron_variant MELA-AU 1 197165600 197165600 single base substitution T A intron_variant MELA-AU 1 197167304 197167304 single base substitution G A intron_variant MELA-AU 1 197169024 197169024 single base substitution C T exon_variant MELA-AU 1 197169024 197169024 single base substitution C T missense_variant E194K 580G>A MELA-AU 1 197170640 197170640 single base substitution C T upstream_gene_variant MELA-AU 1 197170983 197170983 single base substitution T A upstream_gene_variant MELA-AU 1 197170994 197170994 single base substitution C T upstream_gene_variant MELA-AU 1 197171342 197171342 single base substitution C T upstream_gene_variant MELA-AU 1 197171647 197171647 single base substitution A G upstream_gene_variant MELA-AU 1 197171777 197171777 single base substitution A T upstream_gene_variant MELA-AU 1 197172066 197172066 single base substitution C T upstream_gene_variant MELA-AU 1 197172111 197172111 single base substitution G C upstream_gene_variant MELA-AU 1 197172956 197172956 single base substitution G A upstream_gene_variant MELA-AU 1 197173403 197173403 single base substitution C T upstream_gene_variant MELA-AU 1 197173421 197173421 single base substitution C T upstream_gene_variant MELA-AU 1 197173649 197173649 single base substitution C T upstream_gene_variant MELA-AU 1 197173655 197173655 single base substitution C T upstream_gene_variant ORCA-IN 1 197128518 197128518 single base substitution T A exon_variant ORCA-IN 1 197128518 197128518 single base substitution T A missense_variant N901Y 2701A>T ORCA-IN 1 197129047 197129047 single base substitution G C exon_variant ORCA-IN 1 197129047 197129047 single base substitution G C missense_variant F724L 2172C>G ORCA-IN 1 197157444 197157444 single base substitution C A exon_variant ORCA-IN 1 197157444 197157444 single base substitution C A missense_variant K508N 1524G>T ORCA-IN 1 197172560 197172560 single base substitution C G upstream_gene_variant OV-AU 1 197119880 197119880 single base substitution G T downstream_gene_variant OV-AU 1 197129905 197129905 single base substitution G C intron_variant OV-AU 1 197131354 197131354 single base substitution G C intron_variant OV-AU 1 197132485 197132485 single base substitution T G intron_variant OV-AU 1 197134175 197134175 single base substitution T C intron_variant OV-AU 1 197134600 197134600 single base substitution C T intron_variant OV-AU 1 197138050 197138050 single base substitution A G intron_variant OV-AU 1 197138850 197138850 single base substitution C T intron_variant OV-AU 1 197152736 197152736 single base substitution G T intron_variant OV-AU 1 197154194 197154194 single base substitution T C intron_variant OV-AU 1 197154200 197154200 single base substitution T A intron_variant OV-AU 1 197159434 197159434 single base substitution C A intron_variant OV-AU 1 197170665 197170665 single base substitution A G upstream_gene_variant OV-AU 1 197171113 197171113 single base substitution C T upstream_gene_variant PACA-AU 1 197120875 197120877 deletion of <=200bp CTT - downstream_gene_variant PACA-AU 1 197121351 197121351 single base substitution G T downstream_gene_variant PACA-AU 1 197121500 197121500 single base substitution T C downstream_gene_variant PACA-AU 1 197123601 197123601 single base substitution G A 3_prime_UTR_variant PACA-AU 1 197123601 197123601 single base substitution G A downstream_gene_variant PACA-AU 1 197123723 197123723 single base substitution G C 3_prime_UTR_variant PACA-AU 1 197123723 197123723 single base substitution G C downstream_gene_variant PACA-AU 1 197123754 197123754 single base substitution A T 3_prime_UTR_variant PACA-AU 1 197123754 197123754 single base substitution A T downstream_gene_variant PACA-AU 1 197125346 197125346 single base substitution A T 3_prime_UTR_variant PACA-AU 1 197125346 197125346 single base substitution A T downstream_gene_variant PACA-AU 1 197126650 197126650 single base substitution T C 3_prime_UTR_variant PACA-AU 1 197126650 197126650 single base substitution T C downstream_gene_variant PACA-AU 1 197133947 197133947 single base substitution T G intron_variant PACA-AU 1 197134025 197134025 single base substitution A G intron_variant PACA-AU 1 197137087 197137087 single base substitution T C intron_variant PACA-AU 1 197138713 197138713 single base substitution A T intron_variant PACA-AU 1 197139391 197139391 single base substitution A T intron_variant PACA-AU 1 197152347 197152347 single base substitution C A intron_variant PACA-AU 1 197155950 197155950 single base substitution C T intron_variant PACA-AU 1 197156220 197156220 single base substitution G A intron_variant PACA-AU 1 197156411 197156411 single base substitution C G intron_variant PACA-AU 1 197157005 197157005 single base substitution G A intron_variant PACA-AU 1 197157392 197157392 single base substitution G C intron_variant PACA-AU 1 197159976 197159976 single base substitution G T intron_variant PACA-AU 1 197162116 197162116 single base substitution A G intron_variant PACA-AU 1 197163174 197163174 single base substitution G A intron_variant PACA-AU 1 197164047 197164047 insertion of <=200bp - CAGACTAG intron_variant PACA-AU 1 197167480 197167480 single base substitution C G intron_variant PACA-AU 1 197169027 197169027 single base substitution C A exon_variant PACA-AU 1 197169027 197169027 single base substitution C A stop_gained E193* 577G>T PACA-CA 1 197122961 197122961 single base substitution T C 3_prime_UTR_variant PACA-CA 1 197122961 197122961 single base substitution T C downstream_gene_variant PACA-CA 1 197125443 197125443 single base substitution T G 3_prime_UTR_variant PACA-CA 1 197125443 197125443 single base substitution T G downstream_gene_variant PACA-CA 1 197125497 197125497 single base substitution G T 3_prime_UTR_variant PACA-CA 1 197125497 197125497 single base substitution G T downstream_gene_variant PACA-CA 1 197127494 197127494 single base substitution C T 3_prime_UTR_variant PACA-CA 1 197127494 197127494 single base substitution C T downstream_gene_variant PACA-CA 1 197127644 197127644 single base substitution T A 3_prime_UTR_variant PACA-CA 1 197127644 197127644 single base substitution T A exon_variant PACA-CA 1 197128742 197128742 single base substitution C T exon_variant PACA-CA 1 197128742 197128742 single base substitution C T missense_variant R826H 2477G>A PACA-CA 1 197132271 197132271 single base substitution A G intron_variant PACA-CA 1 197134909 197134909 single base substitution A T intron_variant PACA-CA 1 197135991 197135991 single base substitution C A intron_variant PACA-CA 1 197135994 197135994 single base substitution C A intron_variant PACA-CA 1 197140600 197140600 single base substitution A C intron_variant PACA-CA 1 197141241 197141241 single base substitution A C intron_variant PACA-CA 1 197141251 197141251 single base substitution C A intron_variant PACA-CA 1 197141253 197141253 single base substitution A C intron_variant PACA-CA 1 197141865 197141865 single base substitution A G intron_variant PACA-CA 1 197141896 197141896 single base substitution A T intron_variant PACA-CA 1 197142935 197142935 single base substitution A G intron_variant PACA-CA 1 197145978 197145978 single base substitution C T intron_variant PACA-CA 1 197146559 197146559 single base substitution A T intron_variant PACA-CA 1 197146607 197146607 single base substitution A G intron_variant PACA-CA 1 197147314 197147314 single base substitution T A intron_variant PACA-CA 1 197147369 197147369 single base substitution G A intron_variant PACA-CA 1 197147901 197147901 single base substitution G C intron_variant PACA-CA 1 197153781 197153781 single base substitution A G intron_variant PACA-CA 1 197154182 197154182 single base substitution G A intron_variant PACA-CA 1 197156946 197156946 deletion of <=200bp A - intron_variant PACA-CA 1 197157042 197157042 single base substitution T C intron_variant PACA-CA 1 197159991 197159991 single base substitution G A intron_variant PACA-CA 1 197161718 197161718 single base substitution T C intron_variant PACA-CA 1 197163384 197163384 single base substitution G A intron_variant PACA-CA 1 197164028 197164028 single base substitution A G intron_variant PACA-CA 1 197165235 197165235 single base substitution G A intron_variant PACA-CA 1 197169853 197169853 single base substitution G C upstream_gene_variant PACA-CA 1 197170708 197170708 single base substitution C G upstream_gene_variant PACA-CA 1 197171282 197171282 single base substitution C T upstream_gene_variant PACA-CA 1 197172113 197172113 single base substitution C G upstream_gene_variant PACA-CA 1 197172696 197172696 single base substitution C T upstream_gene_variant PAEN-AU 1 197119664 197119664 single base substitution G A downstream_gene_variant PAEN-AU 1 197119665 197119665 single base substitution C A downstream_gene_variant PAEN-AU 1 197145370 197145370 single base substitution C T intron_variant PAEN-AU 1 197170663 197170663 single base substitution C T upstream_gene_variant PAEN-IT 1 197125546 197125546 single base substitution C A 3_prime_UTR_variant PAEN-IT 1 197125546 197125546 single base substitution C A downstream_gene_variant PBCA-DE 1 197126279 197126279 single base substitution T C 3_prime_UTR_variant PBCA-DE 1 197126279 197126279 single base substitution T C downstream_gene_variant PBCA-DE 1 197131607 197131607 single base substitution G A intron_variant PBCA-DE 1 197133957 197133957 single base substitution A G intron_variant PBCA-DE 1 197133968 197133968 insertion of <=200bp - GA intron_variant PBCA-DE 1 197134057 197134065 deletion of <=200bp ATATATTAT - intron_variant PBCA-DE 1 197141251 197141251 single base substitution C A intron_variant PBCA-DE 1 197166714 197166714 single base substitution C G intron_variant PBCA-DE 1 197172093 197172094 deletion of <=200bp GT - upstream_gene_variant PRAD-CA 1 197120825 197120825 single base substitution A G downstream_gene_variant PRAD-CA 1 197145382 197145382 single base substitution C G intron_variant PRAD-CA 1 197159481 197159481 single base substitution G A intron_variant PRAD-UK 1 197119289 197119289 single base substitution A G downstream_gene_variant PRAD-UK 1 197124611 197124611 single base substitution A G 3_prime_UTR_variant PRAD-UK 1 197124611 197124611 single base substitution A G downstream_gene_variant PRAD-UK 1 197128462 197128462 single base substitution A C 3_prime_UTR_variant PRAD-UK 1 197128462 197128462 single base substitution A C exon_variant PRAD-UK 1 197132253 197132253 single base substitution C A intron_variant PRAD-UK 1 197134911 197134911 single base substitution T A intron_variant PRAD-UK 1 197147721 197147721 single base substitution G C intron_variant PRAD-UK 1 197170446 197170446 single base substitution C T upstream_gene_variant PRAD-UK 1 197170712 197170712 single base substitution C G upstream_gene_variant PRAD-US 1 197128614 197128637 deletion of <=200bp TATTTGCAGGTTGAGGAGTAAGAG - disruptive_inframe_deletion TLTPQPANI861I PRAD-US 1 197128614 197128637 deletion of <=200bp TATTTGCAGGTTGAGGAGTAAGAG - exon_variant READ-US 1 197159939 197159939 single base substitution C A exon_variant READ-US 1 197159939 197159939 single base substitution C A stop_gained E451* 1351G>T READ-US 1 197168527 197168527 single base substitution T G exon_variant READ-US 1 197168527 197168527 single base substitution T G missense_variant K359N 1077A>C READ-US 1 197168857 197168857 single base substitution G A exon_variant READ-US 1 197168857 197168857 single base substitution G A synonymous_variant S249S 747C>T RECA-EU 1 197131977 197131977 single base substitution T A intron_variant RECA-EU 1 197137584 197137584 single base substitution G T intron_variant RECA-EU 1 197142480 197142480 single base substitution C G intron_variant RECA-EU 1 197163761 197163761 single base substitution A G intron_variant RECA-EU 1 197165255 197165255 single base substitution A T intron_variant RECA-EU 1 197169934 197169934 single base substitution G A upstream_gene_variant SKCA-BR 1 197118096 197118096 single base substitution G A downstream_gene_variant SKCA-BR 1 197123043 197123043 single base substitution T C 3_prime_UTR_variant SKCA-BR 1 197123043 197123043 single base substitution T C downstream_gene_variant SKCA-BR 1 197127041 197127042 deletion of <=200bp CA - 3_prime_UTR_variant SKCA-BR 1 197127041 197127042 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 1 197127672 197127672 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 197127672 197127672 single base substitution G A exon_variant SKCA-BR 1 197130577 197130577 insertion of <=200bp - TTTGTTAAATATTA intron_variant SKCA-BR 1 197130699 197130699 single base substitution G A intron_variant SKCA-BR 1 197133836 197133845 deletion of <=200bp AATATATTAT - intron_variant SKCA-BR 1 197133864 197133864 single base substitution G A intron_variant SKCA-BR 1 197133876 197133878 deletion of <=200bp TTA - intron_variant SKCA-BR 1 197133898 197133898 single base substitution A G intron_variant SKCA-BR 1 197133997 197134006 deletion of <=200bp AATATATTAT - intron_variant SKCA-BR 1 197134031 197134031 insertion of <=200bp - AATATATTAT intron_variant SKCA-BR 1 197134056 197134065 deletion of <=200bp AATATATTAT - intron_variant SKCA-BR 1 197136415 197136415 single base substitution T C intron_variant SKCA-BR 1 197143246 197143246 single base substitution G A intron_variant SKCA-BR 1 197146525 197146525 single base substitution G A intron_variant SKCA-BR 1 197150561 197150561 single base substitution G A intron_variant SKCA-BR 1 197153924 197153924 insertion of <=200bp - CTATTTATT intron_variant SKCA-BR 1 197155694 197155694 single base substitution G A intron_variant SKCA-BR 1 197158658 197158658 insertion of <=200bp - AG intron_variant SKCA-BR 1 197159481 197159481 single base substitution G A intron_variant SKCA-BR 1 197160586 197160588 deletion of <=200bp CAA - intron_variant SKCA-BR 1 197161667 197161667 single base substitution G A intron_variant SKCA-BR 1 197161720 197161720 single base substitution G A intron_variant SKCA-BR 1 197163069 197163074 deletion of <=200bp GGGATT - intron_variant SKCA-BR 1 197163748 197163748 insertion of <=200bp - GA intron_variant SKCA-BR 1 197165671 197165671 single base substitution T C intron_variant SKCA-BR 1 197165712 197165712 single base substitution C T intron_variant SKCA-BR 1 197166395 197166395 single base substitution A G intron_variant SKCA-BR 1 197166713 197166713 single base substitution G A intron_variant SKCA-BR 1 197170445 197170445 single base substitution C A upstream_gene_variant SKCA-BR 1 197172900 197172900 single base substitution G A upstream_gene_variant SKCM-US 1 197128841 197128841 single base substitution G A exon_variant SKCM-US 1 197128841 197128841 single base substitution G A missense_variant S793L 2378C>T SKCM-US 1 197128925 197128925 single base substitution G A exon_variant SKCM-US 1 197128925 197128925 single base substitution G A missense_variant S765F 2294C>T SKCM-US 1 197128967 197128967 single base substitution G A exon_variant SKCM-US 1 197128967 197128967 single base substitution G A missense_variant S751F 2252C>T SKCM-US 1 197129067 197129067 single base substitution G A exon_variant SKCM-US 1 197129067 197129067 single base substitution G A missense_variant H718Y 2152C>T SKCM-US 1 197147566 197147566 single base substitution G A exon_variant SKCM-US 1 197147566 197147566 single base substitution G A missense_variant R585C 1753C>T SKCM-US 1 197159928 197159928 single base substitution G A exon_variant SKCM-US 1 197159928 197159928 single base substitution G A synonymous_variant S454S 1362C>T SKCM-US 1 197160868 197160868 single base substitution T A exon_variant SKCM-US 1 197160868 197160868 single base substitution T A missense_variant N428Y 1282A>T SKCM-US 1 197168858 197168858 single base substitution G A exon_variant SKCM-US 1 197168858 197168858 single base substitution G A missense_variant S249F 746C>T SKCM-US 1 197168953 197168953 single base substitution A G exon_variant SKCM-US 1 197168953 197168953 single base substitution A G synonymous_variant C217C 651T>C STAD-US 1 197128613 197128613 single base substitution A G exon_variant STAD-US 1 197128613 197128613 single base substitution A G missense_variant I869T 2606T>C STAD-US 1 197128758 197128758 single base substitution G A exon_variant STAD-US 1 197128758 197128758 single base substitution G A missense_variant P821S 2461C>T STAD-US 1 197144169 197144169 single base substitution G A exon_variant STAD-US 1 197144169 197144169 single base substitution G A synonymous_variant S652S 1956C>T STAD-US 1 197144177 197144177 single base substitution A G exon_variant STAD-US 1 197144177 197144177 single base substitution A G missense_variant Y650H 1948T>C STAD-US 1 197144238 197144238 deletion of <=200bp T - exon_variant STAD-US 1 197144238 197144238 deletion of <=200bp T - frameshift_variant K629 STAD-US 1 197145703 197145703 deletion of <=200bp T - exon_variant STAD-US 1 197145703 197145703 deletion of <=200bp T - frameshift_variant I624 STAD-US 1 197145707 197145707 single base substitution T A exon_variant STAD-US 1 197145707 197145707 single base substitution T A missense_variant K622N 1866A>T STAD-US 1 197145714 197145714 single base substitution T C exon_variant STAD-US 1 197145714 197145714 single base substitution T C missense_variant K620R 1859A>G STAD-US 1 197145784 197145784 single base substitution G A exon_variant STAD-US 1 197145784 197145784 single base substitution G A missense_variant H597Y 1789C>T STAD-US 1 197147552 197147552 single base substitution C T exon_variant STAD-US 1 197147552 197147552 single base substitution C T synonymous_variant S589S 1767G>A STAD-US 1 197157461 197157461 single base substitution G A exon_variant STAD-US 1 197157461 197157461 single base substitution G A missense_variant R503W 1507C>T STAD-US 1 197159959 197159959 single base substitution A T missense_variant F444Y 1331T>A STAD-US 1 197159959 197159959 single base substitution A T splice_region_variant STAD-US 1 197168526 197168526 deletion of <=200bp T - exon_variant STAD-US 1 197168526 197168526 deletion of <=200bp T - frameshift_variant I360 STAD-US 1 197168618 197168618 single base substitution T C exon_variant STAD-US 1 197168618 197168618 single base substitution T C missense_variant N329S 986A>G STAD-US 1 197168674 197168674 single base substitution C T exon_variant STAD-US 1 197168674 197168674 single base substitution C T synonymous_variant E310E 930G>A STAD-US 1 197169174 197169174 single base substitution A G exon_variant STAD-US 1 197169174 197169174 single base substitution A G missense_variant Y144H 430T>C STAD-US 1 197169466 197169466 single base substitution T G exon_variant STAD-US 1 197169466 197169466 single base substitution T G missense_variant E46D 138A>C STAD-US 1 197169588 197169588 single base substitution T G exon_variant STAD-US 1 197169588 197169588 single base substitution T G missense_variant K6Q 16A>C THCA-SA 1 197123043 197123043 single base substitution T C 3_prime_UTR_variant THCA-SA 1 197123043 197123043 single base substitution T C downstream_gene_variant THCA-SA 1 197125550 197125550 single base substitution A G 3_prime_UTR_variant THCA-SA 1 197125550 197125550 single base substitution A G downstream_gene_variant UCEC-US 1 197128560 197128560 single base substitution G T exon_variant UCEC-US 1 197128560 197128560 single base substitution G T missense_variant L887I 2659C>A UCEC-US 1 197128703 197128703 single base substitution A C exon_variant UCEC-US 1 197128703 197128703 single base substitution A C missense_variant L839R 2516T>G UCEC-US 1 197128828 197128828 single base substitution C T exon_variant UCEC-US 1 197128828 197128828 single base substitution C T synonymous_variant T797T 2391G>A UCEC-US 1 197128967 197128967 single base substitution G T exon_variant UCEC-US 1 197128967 197128967 single base substitution G T missense_variant S751Y 2252C>A UCEC-US 1 197141301 197141301 single base substitution C T exon_variant UCEC-US 1 197141301 197141301 single base substitution C T missense_variant R688Q 2063G>A UCEC-US 1 197141302 197141302 single base substitution G A exon_variant UCEC-US 1 197141302 197141302 single base substitution G A stop_gained R688* 2062C>T UCEC-US 1 197144170 197144170 single base substitution C A exon_variant UCEC-US 1 197144170 197144170 single base substitution C A missense_variant S652I 1955G>T UCEC-US 1 197145768 197145768 single base substitution C A exon_variant UCEC-US 1 197145768 197145768 single base substitution C A missense_variant R602I 1805G>T UCEC-US 1 197147552 197147552 single base substitution C T exon_variant UCEC-US 1 197147552 197147552 single base substitution C T synonymous_variant S589S 1767G>A UCEC-US 1 197150124 197150124 single base substitution C T exon_variant UCEC-US 1 197150124 197150124 single base substitution C T missense_variant R557Q 1670G>A UCEC-US 1 197150191 197150191 single base substitution G A exon_variant UCEC-US 1 197150191 197150191 single base substitution G A missense_variant R535C 1603C>T UCEC-US 1 197150220 197150220 single base substitution C T exon_variant UCEC-US 1 197150220 197150220 single base substitution C T missense_variant R525H 1574G>A UCEC-US 1 197157461 197157461 single base substitution G A exon_variant UCEC-US 1 197157461 197157461 single base substitution G A missense_variant R503W 1507C>T UCEC-US 1 197157560 197157560 single base substitution T C exon_variant UCEC-US 1 197157560 197157560 single base substitution T C missense_variant K470E 1408A>G UCEC-US 1 197168498 197168498 single base substitution G A exon_variant UCEC-US 1 197168498 197168498 single base substitution G A missense_variant T369I 1106C>T UCEC-US 1 197168600 197168600 single base substitution G T exon_variant UCEC-US 1 197168600 197168600 single base substitution G T missense_variant P335H 1004C>A UCEC-US 1 197168690 197168690 single base substitution T G exon_variant UCEC-US 1 197168690 197168690 single base substitution T G missense_variant E305A 914A>C UCEC-US 1 197168757 197168757 single base substitution C A exon_variant UCEC-US 1 197168757 197168757 single base substitution C A stop_gained E283* 847G>T UCEC-US 1 197168802 197168802 single base substitution C T exon_variant UCEC-US 1 197168802 197168802 single base substitution C T missense_variant D268N 802G>A UCEC-US 1 197168840 197168840 single base substitution C A exon_variant UCEC-US 1 197168840 197168840 single base substitution C A missense_variant R255M 764G>T UCEC-US 1 197168985 197168985 single base substitution G T exon_variant UCEC-US 1 197168985 197168985 single base substitution G T missense_variant H207N 619C>A UCEC-US 1 197169024 197169024 single base substitution C T exon_variant UCEC-US 1 197169024 197169024 single base substitution C T missense_variant E194K 580G>A UCEC-US 1 197169031 197169031 single base substitution T C exon_variant UCEC-US 1 197169031 197169031 single base substitution T C synonymous_variant S191S 573A>G UCEC-US 1 197169075 197169075 single base substitution C T exon_variant UCEC-US 1 197169075 197169075 single base substitution C T missense_variant E177K 529G>A UCEC-US 1 197169117 197169117 single base substitution T G exon_variant UCEC-US 1 197169117 197169117 single base substitution T G missense_variant K163Q 487A>C UCEC-US 1 197169288 197169288 single base substitution C T exon_variant UCEC-US 1 197169288 197169288 single base substitution C T missense_variant V106I 316G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-HJ-7597-01 COSM4026632 c.1956C>T p.S652S Substitution - coding silent 1:197175039-197175039 - S02322 COSM531671 c.2615C>A p.P872Q Substitution - Missense 1:197159474-197159474 - TCGA-E7-A3Y1-01 COSM3789293 c.2398C>A p.Q800K Substitution - Missense 1:197159691-197159691 - 234 COSM3730743 c.1547-11_1547-10delTT p.? Unknown 1:197181127-197181128 - HCC2998 COSM258397 c.1516C>T p.R506W Substitution - Missense 1:197188322-197188322 - TCGA-DK-A1AC-01 COSM1295650 c.1795G>A p.D599N Substitution - Missense 1:197176648-197176648 - ZZUFHECRKL-G045T COSM5437851 c.1879+5A>G p.? Unknown 1:197176559-197176559 - Pat_04_A COSM5844995 c.892C>T p.P298S Substitution - Missense 1:197199582-197199582 - TCGA-EI-6917-01 COSM3418577 c.1077A>C p.K359N Substitution - Missense 1:197199397-197199397 - TCGA-AA-A010-01 COSM286624 c.1867A>G p.K623E Substitution - Missense 1:197176576-197176576 - TCGA-F5-6814-01 COSM3418576 c.1351G>T p.E451* Substitution - Nonsense 1:197190809-197190809 - H1703 COSM1196678 c.2638G>T p.D880Y Substitution - Missense 1:197159451-197159451 - TCGA-BS-A0UF-01 COSM901745 c.529G>A p.E177K Substitution - Missense 1:197199945-197199945 - YUMER COSM1689529 c.2549G>A p.R850Q Substitution - Missense 1:197159540-197159540 - PD4204a COSM165665 c.1228A>C p.K410Q Substitution - Missense 1:197191792-197191792 - TCGA-D3-A3MV-06 COSM3481042 c.2294C>T p.S765F Substitution - Missense 1:197159795-197159795 - TCGA-CG-5721-01 COSM4026639 c.930G>A p.E310E Substitution - coding silent 1:197199544-197199544 - TCGA-FD-A3SJ-01 COSM3789294 c.1205C>G p.S402C Substitution - Missense 1:197191815-197191815 - SJMB016 COSM255582 c.1876T>A p.S626T Substitution - Missense 1:197176567-197176567 - TCGA-CG-5721-01 COSM901734 c.1507C>T p.R503W Substitution - Missense 1:197188331-197188331 - RMS2065 COSM5880802 c.748G>T p.A250S Substitution - Missense 1:197199726-197199726 - TCGA-BP-4770-01 COSM463688 c.1562A>G p.D521G Substitution - Missense 1:197181102-197181102 - BD135T COSM1601473 c.1547-10delT p.? Unknown 1:197181127-197181127 - TCGA-D3-A51R-06 COSM3481041 c.2378C>T p.S793L Substitution - Missense 1:197159711-197159711 - TCGA-FW-A3TV-06 COSM3481047 c.746C>T p.S249F Substitution - Missense 1:197199728-197199728 - TCGA-B5-A11E-01 COSM901742 c.619C>A p.H207N Substitution - Missense 1:197199855-197199855 - TTC466 COSM4576733 c.637A>G p.S213G Substitution - Missense 1:197199837-197199837 - LUAD-F00368 COSM367638 c.2075G>T p.G692V Substitution - Missense 1:197160014-197160014 - HCC16T COSM3705381 c.1700G>A p.R567K Substitution - Missense 1:197178489-197178489 - CSCC-44-T COSM1337582 c.2165G>A p.R722Q Substitution - Missense 1:197159924-197159924 - TCGA-BR-4361-01 COSM4026636 c.1789C>T p.H597Y Substitution - Missense 1:197176654-197176654 - LUAD-RT-S01721 COSM380277 c.391G>T p.V131L Substitution - Missense 1:197200083-197200083 - TCGA-60-2698-01 COSM678329 c.139G>A p.A47T Substitution - Missense 1:197200335-197200335 - CHC1205T COSM4556936 c.708G>A p.G236G Substitution - coding silent 1:197199766-197199766 - TCGA-D1-A17Q-01 COSM901744 c.573A>G p.S191S Substitution - coding silent 1:197199901-197199901 - TCGA-AD-6895-01 COSM1337585 c.1258_1260delAAG p.K420delK Deletion - In frame 1:197191760-197191762 - CHC892T COSM4795114 c.1025G>A p.G342E Substitution - Missense 1:197199449-197199449 - TCGA-AX-A0J0-01 COSM901729 c.1805G>T p.R602I Substitution - Missense 1:197176638-197176638 - KM12 COSM531670 c.2476C>T p.R826C Substitution - Missense 1:197159613-197159613 - TCGA-AN-A0FV-01 COSM424948 c.390C>T p.H130H Substitution - coding silent 1:197200084-197200084 - QC2-39-T2 COSM5655410 c.877A>C p.N293H Substitution - Missense 1:197199597-197199597 - TCGA-CJ-4900-01 COSM1491919 c.437C>A p.S146* Substitution - Nonsense 1:197200037-197200037 - TCGA-61-2012-01 COSM73336 c.503T>G p.I168R Substitution - Missense 1:197199971-197199971 - STC252 COSM5052938 c.2390C>T p.T797M Substitution - Missense 1:197159699-197159699 - SJMB016 COSM255582 c.1876T>A p.S626T Substitution - Missense 1:197176567-197176567 - HCC2998 COSM258397 c.1516C>T p.R506W Substitution - Missense 1:197188322-197188322 - TCGA-EE-A29S-06 COSM3481048 c.651T>C p.C217C Substitution - coding silent 1:197199823-197199823 - RKO COSM2125491 c.1078delA p.I360fs*14 Deletion - Frameshift 1:197199396-197199396 - KM12 COSM2125469 c.1870delA p.I624fs*88 Deletion - Frameshift 1:197176573-197176573 - HT115 COSM2125462 c.2139A>C p.K713N Substitution - Missense 1:197159950-197159950 - PD24186a COSM5780738 c.2257G>C p.D753H Substitution - Missense 1:197159832-197159832 - OSCC-GB_00670111 COSM4883892 c.2701A>T p.N901Y Substitution - Missense 1:197159388-197159388 - MedB-1 COSM5622208 c.739A>G p.S247G Substitution - Missense 1:197199735-197199735 - 3N55-VS-3T55 COSM1290080 c.1957G>A p.V653I Substitution - Missense 1:197175038-197175038 - I2L-P19Ta-Tumor-Biopsy COSM531670 c.2476C>T p.R826C Substitution - Missense 1:197159613-197159613 - 587286 COSM1233154 c.1129G>A p.E377K Substitution - Missense 1:197191891-197191891 - B80 COSM1748048 c.112C>T p.H38Y Substitution - Missense 1:197200362-197200362 - TCGA-AP-A0LD-01 COSM901728 c.1932T>C p.D644D Substitution - coding silent 1:197175063-197175063 - 79 COSM5014173 c.2241T>A p.H747Q Substitution - Missense 1:197159848-197159848 - 19M COSM5580022 c.520T>A p.L174I Substitution - Missense 1:197199954-197199954 - HCT-15 COSM1668327 c.271C>A p.L91I Substitution - Missense 1:197200203-197200203 - 260211 COSM3725541 c.1851C>G p.H617Q Substitution - Missense 1:197176592-197176592 - TCGA-AP-A0LM-01 COSM901731 c.1670G>A p.R557Q Substitution - Missense 1:197180994-197180994 - YULAN COSM1689530 c.2002C>T p.H668Y Substitution - Missense 1:197172232-197172232 - CN-AML-08-T COSM5425717 c.979G>T p.D327Y Substitution - Missense 1:197199495-197199495 - TCGA-AP-A051-01 COSM901727 c.1955G>T p.S652I Substitution - Missense 1:197175040-197175040 - HCC153 COSM2125470 c.1827A>G p.G609G Substitution - coding silent 1:197176616-197176616 - LUAD-F00057 COSM339386 c.238G>A p.D80N Substitution - Missense 1:197200236-197200236 - 61 COSM5735786 c.2591C>A p.P864H Substitution - Missense 1:197159498-197159498 - 4989_CLM COSM5754314 c.1166_1167insG p.F389fs*2 Insertion - Frameshift 1:197191853-197191854 - TCGA-AX-A0J1-01 COSM901733 c.1574G>A p.R525H Substitution - Missense 1:197181090-197181090 - TCGA-AP-A056-01 COSM901738 c.914A>C p.E305A Substitution - Missense 1:197199560-197199560 - EKVX COSM1668326 c.1732A>T p.S578C Substitution - Missense 1:197178457-197178457 - HCT15 COSM1668327 c.271C>A p.L91I Substitution - Missense 1:197200203-197200203 - TCGA-CC-A3MA-01 COSM4942885 c.425T>C p.F142S Substitution - Missense 1:197200049-197200049 - SNUH_G10_S1 COSM3997125 c.2493C>G p.L831L Substitution - coding silent 1:197159596-197159596 - TCGA-B5-A11Y-01 COSM901747 c.316G>A p.V106I Substitution - Missense 1:197200158-197200158 - TCGA-HU-A4H0-01 COSM4026638 c.986A>G p.N329S Substitution - Missense 1:197199488-197199488 - PDA_101 COSM5003522 c.551C>T p.S184L Substitution - Missense 1:197199923-197199923 - HN_00190 COSM130278 c.2090A>G p.K697R Substitution - Missense 1:197159999-197159999 - ESCC_55 COSM5631669 c.847G>C p.E283Q Substitution - Missense 1:197199627-197199627 - SNUH_G10_S1 COSM3677511 c.1683T>C p.T561T Substitution - coding silent 1:197178506-197178506 - 083-01-2TD COSM5418538 c.1356T>G p.F452L Substitution - Missense 1:197190804-197190804 - ESCC-006T COSM3934370 c.612A>C p.S204S Substitution - coding silent 1:197199862-197199862 - PD4098a COSM165663 c.1946A>C p.H649P Substitution - Missense 1:197175049-197175049 - 587228 COSM531670 c.2476C>T p.R826C Substitution - Missense 1:197159613-197159613 - TCGA-E9-A5FK-01 COSM3803360 c.1946A>G p.H649R Substitution - Missense 1:197175049-197175049 - TCGA-BR-8078-01 COSM901730 c.1767G>A p.S589S Substitution - coding silent 1:197178422-197178422 - TCGA-BS-A0UF-01 COSM901726 c.2062C>T p.R688* Substitution - Nonsense 1:197172172-197172172 - TCGA-FS-A1ZZ-06 COSM3481046 c.1282A>T p.N428Y Substitution - Missense 1:197191738-197191738 - CHC1749T COSM4792508 c.1250T>G p.F417C Substitution - Missense 1:197191770-197191770 - TCGA-AX-A0J0-01 COSM901725 c.2063G>A p.R688Q Substitution - Missense 1:197172171-197172171 - ZZUFHECRKL-G043T COSM2125478 c.1547-9C>T p.? Unknown 1:197181126-197181126 - YUKAT COSM5379050 c.1888G>A p.A630T Substitution - Missense 1:197175107-197175107 - T2269 COSM4742173 c.1002A>G p.E334E Substitution - coding silent 1:197199472-197199472 - TCGA-AA-A010-01 COSM286625 c.213G>T p.K71N Substitution - Missense 1:197200261-197200261 - TCGA-AG-3892-01 COSM258397 c.1516C>T p.R506W Substitution - Missense 1:197188322-197188322 - PAPNNX COSM1290080 c.1957G>A p.V653I Substitution - Missense 1:197175038-197175038 - CSCC-11-T COSM4504739 c.673C>T p.H225Y Substitution - Missense 1:197199801-197199801 - TCGA-BH-A18G-01 COSM2125497 c.714delA p.K238fs*4 Deletion - Frameshift 1:197199760-197199760 - TCGA-33-4566-01 COSM678331 c.1216G>T p.V406F Substitution - Missense 1:197191804-197191804 - PACA-59-T COSM1158285 c.577G>T p.E193* Substitution - Nonsense 1:197199897-197199897 - C135 COSM2125497 c.714delA p.K238fs*4 Deletion - Frameshift 1:197199760-197199760 - I2L-P19Ta-Tumor-Biopsy COSM5367541 c.2577_2578insA p.Y860fs*17 Insertion - Frameshift 1:197159511-197159512 - TCGA-A5-A0GP-01 COSM901735 c.1408A>G p.K470E Substitution - Missense 1:197188430-197188430 - TCGA-AX-A0J0-01 COSM901739 c.847G>T p.E283* Substitution - Nonsense 1:197199627-197199627 - TCGA-BR-8368-01 COSM4026631 c.2461C>T p.P821S Substitution - Missense 1:197159628-197159628 - BN01T COSM1601474 c.1253A>G p.H418R Substitution - Missense 1:197191767-197191767 - ESCC_91 COSM5636775 c.2644A>G p.R882G Substitution - Missense 1:197159445-197159445 - CLL154 COSM1290080 c.1957G>A p.V653I Substitution - Missense 1:197175038-197175038 - CSCC-62-T COSM4570179 c.2419T>A p.C807S Substitution - Missense 1:197159670-197159670 - cSCCP6 COSM136203 c.1753C>T p.R585C Substitution - Missense 1:197178436-197178436 - CN-AML-NR-08-Dx COSM5425717 c.979G>T p.D327Y Substitution - Missense 1:197199495-197199495 - TCGA-BR-4256-01 COSM4026635 c.1859A>G p.K620R Substitution - Missense 1:197176584-197176584 - TCGA-A5-A0VP-01 COSM901737 c.1004C>A p.P335H Substitution - Missense 1:197199470-197199470 - TCGA-JX-A3Q0-01 COSM4823911 c.2263C>T p.P755S Substitution - Missense 1:197159826-197159826 - TCGA-D1-A103-01 COSM901743 c.580G>A p.E194K Substitution - Missense 1:197199894-197199894 - I2L-P7-Tumor-Organoid COSM5353718 c.782T>C p.V261A Substitution - Missense 1:197199692-197199692 - TCGA-B5-A0JY-01 COSM901721 c.2659C>A p.L887I Substitution - Missense 1:197159430-197159430 - YUOTHO COSM5379052 c.715delC p.H239fs*3 Deletion - Frameshift 1:197199759-197199759 - TCGA-AY-6386-01 COSM1337584 c.1611_1612insTA p.E538fs*1 Insertion - Frameshift 1:197181052-197181053 - TCGA-AA-A00N-01 COSM278188 c.208A>C p.N70H Substitution - Missense 1:197200266-197200266 - ESO-175 COSM1270721 c.791delA p.D264fs*17 Deletion - Frameshift 1:197199683-197199683 - LAU165 COSM233791 c.688C>T p.H230Y Substitution - Missense 1:197199786-197199786 - 067T COSM1730385 c.122G>T p.G41V Substitution - Missense 1:197200352-197200352 - PD6744a COSM1637434 c.2210A>T p.D737V Substitution - Missense 1:197159879-197159879 - TCGA-CA-6718-01 COSM1337592 c.493T>G p.L165V Substitution - Missense 1:197199981-197199981 - KM12 COSM531670 c.2476C>T p.R826C Substitution - Missense 1:197159613-197159613 - ME020T COSM225453 c.1550C>T p.P517L Substitution - Missense 1:197181114-197181114 - LUAD-RT-S01774 COSM381273 c.276C>T p.I92I Substitution - coding silent 1:197200198-197200198 - I2L-P19Ta-Tumor-Organoid COSM5367541 c.2577_2578insA p.Y860fs*17 Insertion - Frameshift 1:197159511-197159512 - ESO-0029 COSM171018 c.1669C>T p.R557* Substitution - Nonsense 1:197180995-197180995 - HCT8 COSM1668327 c.271C>A p.L91I Substitution - Missense 1:197200203-197200203 - CHC1749T COSM4792508 c.1250T>G p.F417C Substitution - Missense 1:197191770-197191770 - CSCC-20-T COSM4569811 c.205T>C p.Y69H Substitution - Missense 1:197200269-197200269 - I2L-P7-Tumor-Organoid COSM2125469 c.1870delA p.I624fs*88 Deletion - Frameshift 1:197176573-197176573 - TCGA-CA-6718-01 COSM1337586 c.1246G>T p.E416* Substitution - Nonsense 1:197191774-197191774 - HCT15 COSM2125482 c.1332T>C p.F444F Substitution - coding silent 1:197190828-197190828 - T1194 COSM4742170 c.2379G>A p.S793S Substitution - coding silent 1:197159710-197159710 - SW480 COSM4655560 c.678G>A p.L226L Substitution - coding silent 1:197199796-197199796 - BD9T COSM5502077 c.2353A>G p.M785V Substitution - Missense 1:197159736-197159736 - QC2-32-T2 COSM5653814 c.2493C>T p.L831L Substitution - coding silent 1:197159596-197159596 - S01861 COSM5670906 c.2549G>T p.R850L Substitution - Missense 1:197159540-197159540 - TCGA-BR-4361-01 COSM4026633 c.1948T>C p.Y650H Substitution - Missense 1:197175047-197175047 - TCGA-AF-6672-01 COSM1560357 c.747C>T p.S249S Substitution - coding silent 1:197199727-197199727 - RKO COSM2125508 c.20T>C p.V7A Substitution - Missense 1:197200454-197200454 - ESCC_BICR_033T COSM5439676 c.553G>A p.E185K Substitution - Missense 1:197199921-197199921 - TCGA-DK-A3IS-01 COSM1295651 c.351G>C p.L117F Substitution - Missense 1:197200123-197200123 - PACA59 COSM1158285 c.577G>T p.E193* Substitution - Nonsense 1:197199897-197199897 - B80-Tumor COSM1748048 c.112C>T p.H38Y Substitution - Missense 1:197200362-197200362 - TCGA-EE-A2GC-06 COSM3481043 c.2252C>T p.S751F Substitution - Missense 1:197159837-197159837 - TCGA-D7-6822-01 COSM4026637 c.1331T>A p.F444Y Substitution - Missense 1:197190829-197190829 - QC2-39-T2 COSM5655409 c.1026A>C p.G342G Substitution - coding silent 1:197199448-197199448 - DLD1 COSM1668327 c.271C>A p.L91I Substitution - Missense 1:197200203-197200203 - SC_9081 COSM901723 c.2391G>A p.T797T Substitution - coding silent 1:197159698-197159698 - TP_2034 COSM5560785 c.528C>A p.N176K Substitution - Missense 1:197199946-197199946 - TCGA-BR-4362-01 COSM4026630 c.2606T>C p.I869T Substitution - Missense 1:197159483-197159483 - TCGA-ER-A19N-06 COSM3481044 c.2152C>T p.H718Y Substitution - Missense 1:197159937-197159937 - 6115224 COSM5563977 c.251A>C p.Q84P Substitution - Missense 1:197200223-197200223 - PD13764a COSM5773546 c.920A>G p.D307G Substitution - Missense 1:197199554-197199554 - OSCC-GB_00660111 COSM4888796 c.2172C>G p.F724L Substitution - Missense 1:197159917-197159917 - YULAN COSM1689531 c.1537T>G p.F513V Substitution - Missense 1:197188301-197188301 - TCGA-AP-A051-01 COSM901736 c.1106C>T p.T369I Substitution - Missense 1:197199368-197199368 - TCGA-BP-4977-01 COSM463689 c.1346C>A p.A449E Substitution - Missense 1:197190814-197190814 - HCC16 COSM3705381 c.1700G>A p.R567K Substitution - Missense 1:197178489-197178489 - T2944 COSM4742172 c.1784G>A p.R595Q Substitution - Missense 1:197176659-197176659 - C135 COSM4617257 c.1573C>T p.R525C Substitution - Missense 1:197181091-197181091 - HCC4T COSM1601473 c.1547-10delT p.? Unknown 1:197181127-197181127 - TCGA-56-6545-01 COSM678330 c.1060C>G p.Q354E Substitution - Missense 1:197199414-197199414 - TCGA-AZ-6598-01 COSM2125497 c.714delA p.K238fs*4 Deletion - Frameshift 1:197199760-197199760 - S02293 COSM5688348 c.1335T>G p.H445Q Substitution - Missense 1:197190825-197190825 - 2334199 COSM324360 c.1517G>T p.R506L Substitution - Missense 1:197188321-197188321 - HCC153T COSM2125470 c.1827A>G p.G609G Substitution - coding silent 1:197176616-197176616 - OSCC-GB_00960111 COSM4885568 c.1524G>T p.K508N Substitution - Missense 1:197188314-197188314 - TCGA-CM-6162-01 COSM1337583 c.1754G>A p.R585H Substitution - Missense 1:197178435-197178435 - TCGA-60-2698-01 COSM678332 c.1664C>T p.S555L Substitution - Missense 1:197181000-197181000 - TCGA-AX-A0J1-01 COSM901732 c.1603C>T p.R535C Substitution - Missense 1:197181061-197181061 - 259091 COSM3725150 c.2288T>G p.L763R Substitution - Missense 1:197159801-197159801 - ACINAR01 COSM1733751 c.934_936delGAG p.E312delE Deletion - In frame 1:197199538-197199540 - I2L-P7-Tumor-Organoid COSM2125503 c.451T>C p.Y151H Substitution - Missense 1:197200023-197200023 - TCGA-BS-A0UV-01 COSM901724 c.2252C>A p.S751Y Substitution - Missense 1:197159837-197159837 - TCGA-BS-A0UJ-01 COSM901722 c.2516T>G p.L839R Substitution - Missense 1:197159573-197159573 - ESCC_BICR_061T COSM4576733 c.637A>G p.S213G Substitution - Missense 1:197199837-197199837 - NPC15F COSM4995346 c.868T>C p.S290P Substitution - Missense 1:197199606-197199606 - YUKAT COSM5379049 c.2582C>T p.T861I Substitution - Missense 1:197159507-197159507 - TCGA-CM-6674-01 COSM1337590 c.714_715insA p.H239fs*24 Insertion - Frameshift 1:197199759-197199760 - TCGA-EW-A1IZ-01 COSM1473214 c.167_170delCCTC p.P56fs*8 Deletion - Frameshift 1:197200304-197200307 - YUKAT COSM5379051 c.1514C>T p.A505V Substitution - Missense 1:197188324-197188324 - T2932 COSM4742171 c.1887delA p.A630fs*82 Deletion - Frameshift 1:197175108-197175108 - CHC892T COSM4795114 c.1025G>A p.G342E Substitution - Missense 1:197199449-197199449 - tumor_4189035 COSM5949452 c.2031T>C p.F677F Substitution - coding silent 1:197172203-197172203 - TCGA-AZ-4315-01 COSM1337582 c.2165G>A p.R722Q Substitution - Missense 1:197159924-197159924 - pfg057T COSM4764277 c.688C>A p.H230N Substitution - Missense 1:197199786-197199786 - TCGA-BR-8680-01 COSM4026642 c.16A>C p.K6Q Substitution - Missense 1:197200458-197200458 - ESCC-237T COSM3934368 c.943G>T p.D315Y Substitution - Missense 1:197199531-197199531 - TCGA-EE-A2GJ-06 COSM136203 c.1753C>T p.R585C Substitution - Missense 1:197178436-197178436 - LOVO COSM2125480 c.1517G>A p.R506Q Substitution - Missense 1:197188321-197188321 - BD246T COSM5496039 c.2230G>C p.D744H Substitution - Missense 1:197159859-197159859 - C658 COSM4443173 c.1113C>A p.D371E Substitution - Missense 1:197199361-197199361 - ESO-838 COSM1270723 c.110C>T p.T37I Substitution - Missense 1:197200364-197200364 - TCGA-D8-A142-01 COSM424949 c.60A>C p.K20N Substitution - Missense 1:197200414-197200414 - CHC1205T COSM4556936 c.708G>A p.G236G Substitution - coding silent 1:197199766-197199766 - CSCC-20-T COSM4556936 c.708G>A p.G236G Substitution - coding silent 1:197199766-197199766 - pfg212T COSM4764278 c.391G>A p.V131I Substitution - Missense 1:197200083-197200083 - PD8620a COSM5769262 c.2158G>C p.D720H Substitution - Missense 1:197159931-197159931 - CHC624T COSM3667433 c.1275T>G p.P425P Substitution - coding silent 1:197191745-197191745 - TCGA-BS-A0UV-01 COSM901747 c.316G>A p.V106I Substitution - Missense 1:197200158-197200158 - TCGA-B5-A0JY-01 COSM901745 c.529G>A p.E177K Substitution - Missense 1:197199945-197199945 - PD4120a COSM165664 c.2332C>G p.Q778E Substitution - Missense 1:197159757-197159757 - CSCC-44-T COSM4539744 c.2729G>A p.*910* Substitution - coding silent 1:197159360-197159360 - TCGA-BH-A2L8-01 COSM3803359 c.2305G>C p.E769Q Substitution - Missense 1:197159784-197159784 - TCGA-BR-8591-01 COSM4026641 c.138A>C p.E46D Substitution - Missense 1:197200336-197200336 - 2334191 COSM324359 c.973G>A p.E325K Substitution - Missense 1:197199501-197199501 - TCGA-A8-A0A6-01 COSM3803361 c.379A>C p.T127P Substitution - Missense 1:197200095-197200095 - GC_337T-GC_337N COSM1601473 c.1547-10delT p.? Unknown 1:197181127-197181127 - TCGA-B5-A11E-01 COSM901723 c.2391G>A p.T797T Substitution - coding silent 1:197159698-197159698 - TCGA-BP-4961-01 COSM463691 c.181A>G p.R61G Substitution - Missense 1:197200293-197200293 - T1154 COSM2125469 c.1870delA p.I624fs*88 Deletion - Frameshift 1:197176573-197176573 - S01023 COSM5666304 c.2491C>T p.L831F Substitution - Missense 1:197159598-197159598 - LP6007401-DNA_A01 COSM5036104 c.2434C>T p.L812L Substitution - coding silent 1:197159655-197159655 - TCGA-AA-A010-01 COSM286623 c.2477G>A p.R826H Substitution - Missense 1:197159612-197159612 - C91 COSM2125504 c.325G>A p.G109S Substitution - Missense 1:197200149-197200149 - TCGA-FS-A1ZZ-06 COSM3481045 c.1362C>T p.S454S Substitution - coding silent 1:197190798-197190798 - COLO-829 COSM36692 c.490T>G p.F164V Substitution - Missense 1:197199984-197199984 - TCGA-CG-5721-01 COSM4026640 c.430T>C p.Y144H Substitution - Missense 1:197200044-197200044 - TCGA-AP-A051-01 COSM901730 c.1767G>A p.S589S Substitution - coding silent 1:197178422-197178422 - TCGA-CA-6717-01 COSM1337588 c.875G>T p.R292I Substitution - Missense 1:197199599-197199599 - I2L-P19Ta-Tumor-Organoid COSM531670 c.2476C>T p.R826C Substitution - Missense 1:197159613-197159613 - TCGA-BR-8680-01 COSM4026634 c.1866A>T p.K622N Substitution - Missense 1:197176577-197176577 - 19 COSM2125469 c.1870delA p.I624fs*88 Deletion - Frameshift 1:197176573-197176573 - HCC2998 COSM901726 c.2062C>T p.R688* Substitution - Nonsense 1:197172172-197172172 - BN01 COSM1601474 c.1253A>G p.H418R Substitution - Missense 1:197191767-197191767 - GC_299T1-GC_299N COSM901734 c.1507C>T p.R503W Substitution - Missense 1:197188331-197188331 - TCGA-BG-A0MQ-01 COSM901740 c.802G>A p.D268N Substitution - Missense 1:197199672-197199672 - TCGA-AP-A056-01 COSM901746 c.487A>C p.K163Q Substitution - Missense 1:197199987-197199987 - TCGA-CA-6717-01 COSM1337589 c.769C>T p.R257W Substitution - Missense 1:197199705-197199705 - CSCC-30-T COSM4569488 c.1791T>C p.H597H Substitution - coding silent 1:197176652-197176652 - HN_62671 COSM130279 c.370G>A p.D124N Substitution - Missense 1:197200104-197200104 - TCGA-AS-3778-01 COSM463690 c.1037A>G p.E346G Substitution - Missense 1:197199437-197199437 - T3058 COSM4742174 c.353G>A p.S118N Substitution - Missense 1:197200121-197200121 - SW948 COSM2125506 c.220C>A p.L74I Substitution - Missense 1:197200254-197200254 - ESCC-231T COSM3934369 c.662C>G p.S221C Substitution - Missense 1:197199812-197199812 - TCGA-AC-A23H-01 COSM3803358 c.2593C>T p.Q865* Substitution - Nonsense 1:197159496-197159496 - PT46 COSM5928231 c.1766C>T p.S589L Substitution - Missense 1:197178423-197178423 - TCGA-B5-A0JY-01 COSM901741 c.764G>T p.R255M Substitution - Missense 1:197199710-197199710 - YURUS COSM1689532 c.1115G>T p.R372L Substitution - Missense 1:197199359-197199359 - ESO-0280 COSM1270722 c.1747A>G p.S583G Substitution - Missense 1:197178442-197178442 - BD6T COSM5498758 c.2612A>G p.H871R Substitution - Missense 1:197159477-197159477 - TCGA-B5-A11Y-01 COSM901734 c.1507C>T p.R503W Substitution - Missense 1:197188331-197188331 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.529439 1q31.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AA - Frameshift p.F444Sfs*3 c.1331_1332delTT 1 197159958 RCCC A C Missense p.I168R c.503T>G 1 197169101 OV A G Synonymous p.C217C c.651T>C 1 197168953 CM A T Missense p.C391S c.1171T>A 1 197160979 COREAD A T Missense p.F444Y c.1331T>A 1 197159959 STAD A T Missense p.L139M c.415T>A 1 197169189 CM C A Missense p.R506L c.1517G>T 1 197157451 SCLC C G Missense p.L117F c.351G>C 1 197169253 BLCA C T Missense p.D124N c.370G>A 1 197169234 HNSC C T Missense p.D268N c.802G>A 1 197168802 UCEC C T Missense p.E325K c.973G>A 1 197168631 SCLC C T Missense p.G888E c.2663G>A 1 197128556 HNSC C T Missense p.V106I c.316G>A 1 197169288 UCEC C T Missense p.V653I c.1957G>A 1 197144168 CLL C T Synonymous p.Q816Q c.2448G>A 1 197128771 HNSC G A Missense p.H598Y c.1792C>T 1 197145781 HNSC G A Missense p.H718Y c.2152C>T 1 197129067 CM G A Missense p.R503W c.1507C>T 1 197157461 UCEC G A Missense p.R585C c.1753C>T 1 197147566 CM G A Missense p.R826C c.2476C>T 1 197128743 LUAD G A Missense p.S751F c.2252C>T 1 197128967 CM G A Missense p.S765F c.2294C>T 1 197128925 CM G A Missense p.T37I c.110C>T 1 197169494 ESCA G A Nonsense p.R557* c.1669C>T 1 197150125 ESCA G A Synonymous p.H130H c.390C>T 1 197169214 BRCA G A Synonymous p.S454S c.1362C>T 1 197159928 CM G C Missense p.P841A c.2521C>G 1 197128698 BRCA G C Missense p.Q354E c.1060C>G 1 197168544 LUSC G C Missense p.Q778E c.2332C>G 1 197128887 BRCA G T Missense p.A449E c.1346C>A 1 197159944 RCCC G T Missense p.P335H c.1004C>A 1 197168600 UCEC T A Missense p.N428Y c.1282A>T 1 197160868 CM T A Synonymous p.V131V c.393A>T 1 197169211 LUAD TATTTGCAGGTTGAGGAGTAAGAG - InFrameDeletion p.T861_N868delTLTPQPAN c.2582_2605delCTCTTACTCCTCAACCTGCAAATA 1 197128614 PRAD T C Missense p.E346G c.1037A>G 1 197168567 RCCC T C Missense p.K470E c.1408A>G 1 197157560 UCEC T C Missense p.K620R c.1859A>G 1 197145714 STAD T C Missense p.K697R c.2090A>G 1 197129129 HNSC T C Missense p.R61G c.181A>G 1 197169423 RCCC T C Missense p.S583G c.1747A>G 1 197147572 ESCA T - Frameshift p.D264Vfs*17 c.791delA 1 197168813 ESCA T G Missense p.H649P c.1946A>C 1 197144179 BRCA T G Missense p.K20N c.60A>C 1 197169544 BRCA T G Missense p.K410Q c.1228A>C 1 197160922 BRCA