Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 7 6175530 6175530 + Silent SNP C C G TCGA-OR-A5LO-01A-11D-A29I-10 TCGA-OR-A5LO-10A-01D-A29L-10 g.chr7:6175530C>G c.501C>G c.(499-501)ctC>ctG p.L167L BLCA 7 6150955 6150955 + Missense_Mutation SNP C C G TCGA-DK-AA71-01A-31D-A391-08 TCGA-DK-AA71-10A-01D-A394-08 g.chr7:6150955C>G c.191C>G c.(190-192)tCg>tGg p.S64W BLCA 7 6180583 6180583 + Missense_Mutation SNP G G C TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr7:6180583G>C c.763G>C c.(763-765)Gat>Cat p.D255H BLCA 7 6189333 6189333 + Silent SNP C C T TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr7:6189333C>T c.1506C>T c.(1504-1506)gtC>gtT p.V502V BLCA 7 6196420 6196420 + Missense_Mutation SNP C C G TCGA-2F-A9KT-01A-11D-A38G-08 TCGA-2F-A9KT-10A-01D-A38J-08 g.chr7:6196420C>G c.3677C>G c.(3676-3678)tCt>tGt p.S1226C BRCA 7 6155014 6155014 + Missense_Mutation SNP T T G TCGA-E2-A14Q-01A-11D-A12B-09 TCGA-E2-A14Q-10A-01D-A12B-09 g.chr7:6155014T>G c.302T>G c.(301-303)cTt>cGt p.L101R BRCA 7 6175584 6175584 + Splice_Site SNP T T A TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 g.chr7:6175584T>A c.e4+2 BRCA 7 6196533 6196533 + Missense_Mutation SNP T T G TCGA-AQ-A04J-01A-02W-A050-09 TCGA-AQ-A04J-10A-01W-A055-09 g.chr7:6196533T>G c.3790T>G c.(3790-3792)Ttg>Gtg p.L1264V CESC 7 6154999 6154999 + Missense_Mutation SNP C C G TCGA-JX-A3Q0-01A-11D-A21Q-09 TCGA-JX-A3Q0-10A-01D-A21Q-09 g.chr7:6154999C>G c.287C>G c.(286-288)tCt>tGt p.S96C CESC 7 6182606 6182606 + Missense_Mutation SNP C C T TCGA-EK-A2RE-01A-11D-A18J-09 TCGA-EK-A2RE-10A-01D-A18J-09 g.chr7:6182606C>T c.839C>T c.(838-840)cCg>cTg p.P280L CESC 7 6189273 6189273 + Silent SNP G G A TCGA-C5-A7CL-01A-11D-A32I-09 TCGA-C5-A7CL-10A-01D-A32I-09 g.chr7:6189273G>A c.1446G>A c.(1444-1446)tcG>tcA p.S482S CESC 7 6189655 6189655 + Missense_Mutation SNP G G A TCGA-EX-A449-01A-11D-A243-09 TCGA-EX-A449-10A-01D-A243-09 g.chr7:6189655G>A c.1828G>A c.(1828-1830)Gag>Aag p.E610K COAD 7 6175546 6175546 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:6175546G>A c.517G>A c.(517-519)Gtt>Att p.V173I COAD 7 6183788 6183788 + Silent SNP G G T TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr7:6183788G>T c.951G>T c.(949-951)ctG>ctT p.L317L COAD 7 6187417 6187417 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr7:6187417G>A c.1280G>A c.(1279-1281)aGc>aAc p.S427N COAD 7 6187422 6187422 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr7:6187422G>A c.1285G>A c.(1285-1287)Ggc>Agc p.G429S COAD 7 6189265 6189265 + Missense_Mutation SNP T T C TCGA-G4-6306-01A-11D-1771-10 TCGA-G4-6306-10A-01D-1771-10 g.chr7:6189265T>C c.1438T>C c.(1438-1440)Tcc>Ccc p.S480P COAD 7 6189267 6189267 + Silent SNP C C T TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr7:6189267C>T c.1440C>T c.(1438-1440)tcC>tcT p.S480S COAD 7 6189710 6189710 + Missense_Mutation SNP T T A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr7:6189710T>A c.1883T>A c.(1882-1884)aTt>aAt p.I628N COAD 7 6189714 6189714 + Silent SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr7:6189714T>C c.1887T>C c.(1885-1887)ggT>ggC p.G629G COAD 7 6189845 6189845 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr7:6189845G>A c.2018G>A c.(2017-2019)gGc>gAc p.G673D COAD 7 6189919 6189919 + Missense_Mutation SNP G G A TCGA-A6-5659-01A-01D-1650-10 TCGA-A6-5659-11A-01D-1650-10 g.chr7:6189919G>A c.2092G>A c.(2092-2094)Ggt>Agt p.G698S COAD 7 6196400 6196400 + Silent SNP A A G TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr7:6196400A>G c.3657A>G c.(3655-3657)tcA>tcG p.S1219S COAD 7 6196442 6196443 + Frame_Shift_Ins INS - - A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr7:6196442_6196443insA c.3699_3700insA c.(3700-3702)aaafs p.K1234fs COAD 7 6196564 6196564 + Missense_Mutation SNP A A G TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr7:6196564A>G c.3821A>G c.(3820-3822)cAg>cGg p.Q1274R COADREAD 7 6175546 6175546 + Missense_Mutation SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:6175546G>A c.517G>A c.(517-519)Gtt>Att p.V173I COADREAD 7 6183788 6183788 + Silent SNP G G T TCGA-G4-6303-01A-11D-1771-10 TCGA-G4-6303-10A-01D-1771-10 g.chr7:6183788G>T c.951G>T c.(949-951)ctG>ctT p.L317L COADREAD 7 6187417 6187417 + Missense_Mutation SNP G G A TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chr7:6187417G>A c.1280G>A c.(1279-1281)aGc>aAc p.S427N COADREAD 7 6187422 6187422 + Missense_Mutation SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr7:6187422G>A c.1285G>A c.(1285-1287)Ggc>Agc p.G429S COADREAD 7 6189265 6189265 + Missense_Mutation SNP T T C TCGA-G4-6306-01A-11D-1771-10 TCGA-G4-6306-10A-01D-1771-10 g.chr7:6189265T>C c.1438T>C c.(1438-1440)Tcc>Ccc p.S480P COADREAD 7 6189267 6189267 + Silent SNP C C T TCGA-D5-6537-01A-11D-1719-10 TCGA-D5-6537-10A-01D-1719-10 g.chr7:6189267C>T c.1440C>T c.(1438-1440)tcC>tcT p.S480S COADREAD 7 6189710 6189710 + Missense_Mutation SNP T T A TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr7:6189710T>A c.1883T>A c.(1882-1884)aTt>aAt p.I628N COADREAD 7 6189714 6189714 + Silent SNP T T C TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr7:6189714T>C c.1887T>C c.(1885-1887)ggT>ggC p.G629G COADREAD 7 6189845 6189845 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr7:6189845G>A c.2018G>A c.(2017-2019)gGc>gAc p.G673D COADREAD 7 6189919 6189919 + Missense_Mutation SNP G G A TCGA-A6-5659-01A-01D-1650-10 TCGA-A6-5659-11A-01D-1650-10 g.chr7:6189919G>A c.2092G>A c.(2092-2094)Ggt>Agt p.G698S COADREAD 7 6196400 6196400 + Silent SNP A A G TCGA-CM-6674-01A-11D-1835-10 TCGA-CM-6674-10A-01D-1835-10 g.chr7:6196400A>G c.3657A>G c.(3655-3657)tcA>tcG p.S1219S COADREAD 7 6196442 6196443 + Frame_Shift_Ins INS - - A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr7:6196442_6196443insA c.3699_3700insA c.(3700-3702)aaafs p.K1234fs COADREAD 7 6196564 6196564 + Missense_Mutation SNP A A G TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr7:6196564A>G c.3821A>G c.(3820-3822)cAg>cGg p.Q1274R DLBC 7 6175526 6175526 + Missense_Mutation SNP C C T TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr7:6175526C>T c.497C>T c.(496-498)gCa>gTa p.A166V ESCA 7 6180592 6180592 + Missense_Mutation SNP C C G TCGA-L5-A8NV-01A-11D-A37C-09 TCGA-L5-A8NV-11A-11D-A37F-09 g.chr7:6180592C>G c.772C>G c.(772-774)Ctt>Gtt p.L258V ESCA 7 6183719 6183719 + Silent SNP T T C TCGA-L5-A43I-01A-11D-A247-09 TCGA-L5-A43I-11A-11D-A247-09 g.chr7:6183719T>C c.882T>C c.(880-882)tgT>tgC p.C294C ESCA 7 6185158 6185158 + Silent SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr7:6185158C>T c.1002C>T c.(1000-1002)taC>taT p.Y334Y ESCA 7 6196639 6196639 + Missense_Mutation SNP G G A TCGA-2H-A9GI-01A-11D-A37C-09 TCGA-2H-A9GI-11A-11D-A37F-09 g.chr7:6196639G>A c.3896G>A c.(3895-3897)cGg>cAg p.R1299Q GBM 7 6183728 6183728 + Missense_Mutation SNP G G A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 g.chr7:6183728G>A c.891G>A c.(889-891)atG>atA p.M297I GBM 7 6189342 6189342 + Missense_Mutation SNP G G T TCGA-76-6191-01A-12D-1696-08 TCGA-76-6191-10A-01D-1696-08 g.chr7:6189342G>T c.1515G>T c.(1513-1515)tgG>tgT p.W505C GBM 7 6189851 6189851 + Missense_Mutation SNP C C T TCGA-32-4213-01A-01D-1353-08 TCGA-32-4213-10A-01D-1353-08 g.chr7:6189851C>T c.2024C>T c.(2023-2025)gCg>gTg p.A675V GBMLGG 7 6183728 6183728 + Missense_Mutation SNP G G A TCGA-14-1829-01A-01W-0643-08 TCGA-14-1829-10A-01W-0644-08 g.chr7:6183728G>A c.891G>A c.(889-891)atG>atA p.M297I GBMLGG 7 6189342 6189342 + Missense_Mutation SNP G G T TCGA-76-6191-01A-12D-1696-08 TCGA-76-6191-10A-01D-1696-08 g.chr7:6189342G>T c.1515G>T c.(1513-1515)tgG>tgT p.W505C GBMLGG 7 6189851 6189851 + Missense_Mutation SNP C C T TCGA-32-4213-01A-01D-1353-08 TCGA-32-4213-10A-01D-1353-08 g.chr7:6189851C>T c.2024C>T c.(2023-2025)gCg>gTg p.A675V HNSC 7 6150815 6150815 + Missense_Mutation SNP G G T TCGA-T2-A6WX-01A-12D-A34J-08 TCGA-T2-A6WX-10B-01D-A34M-08 g.chr7:6150815G>T c.51G>T c.(49-51)caG>caT p.Q17H HNSC 7 6182587 6182587 + Silent SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr7:6182587T>C c.820T>C c.(820-822)Ttg>Ctg p.L274L HNSC 7 6189425 6189425 + Missense_Mutation SNP G G T TCGA-CR-7402-01A-11D-2012-08 TCGA-CR-7402-10A-01D-2013-08 g.chr7:6189425G>T c.1598G>T c.(1597-1599)cGc>cTc p.R533L HNSC 7 6189454 6189454 + Missense_Mutation SNP A A G TCGA-CN-A63W-01A-11D-A30E-08 TCGA-CN-A63W-10A-01D-A30H-08 g.chr7:6189454A>G c.1627A>G c.(1627-1629)Agt>Ggt p.S543G KIPAN 7 6154957 6154957 + Missense_Mutation SNP T T C TCGA-CZ-5453-01A-01D-1501-10 TCGA-CZ-5453-11A-01D-1501-10 g.chr7:6154957T>C c.245T>C c.(244-246)cTa>cCa p.L82P KIPAN 7 6180604 6180605 + Frame_Shift_Ins INS - - TA TCGA-2Z-A9JE-01A-11D-A42J-10 TCGA-2Z-A9JE-10A-01D-A42M-10 g.chr7:6180604_6180605insTA c.784_785insTA c.(784-786)ttgfs p.L262fs KIPAN 7 6190120 6190120 + Silent SNP C C T TCGA-BP-5004-01A-01D-1462-08 TCGA-BP-5004-11A-01D-1462-08 g.chr7:6190120C>T c.2184C>T c.(2182-2184)ggC>ggT p.G728G KIPAN 7 6196544 6196544 + Silent SNP C C T TCGA-SX-A7SQ-01A-12D-A35Z-10 TCGA-SX-A7SQ-10A-01D-A35Z-10 g.chr7:6196544C>T c.3801C>T c.(3799-3801)gtC>gtT p.V1267V KIRC 7 6154957 6154957 + Missense_Mutation SNP T T C TCGA-CZ-5453-01A-01D-1501-10 TCGA-CZ-5453-11A-01D-1501-10 g.chr7:6154957T>C c.245T>C c.(244-246)cTa>cCa p.L82P KIRC 7 6190120 6190120 + Silent SNP C C T TCGA-BP-5004-01A-01D-1462-08 TCGA-BP-5004-11A-01D-1462-08 g.chr7:6190120C>T c.2184C>T c.(2182-2184)ggC>ggT p.G728G KIRP 7 6180604 6180605 + Frame_Shift_Ins INS - - TA TCGA-2Z-A9JE-01A-11D-A42J-10 TCGA-2Z-A9JE-10A-01D-A42M-10 g.chr7:6180604_6180605insTA c.784_785insTA c.(784-786)ttgfs p.L262fs KIRP 7 6196544 6196544 + Silent SNP C C T TCGA-SX-A7SQ-01A-12D-A35Z-10 TCGA-SX-A7SQ-10A-01D-A35Z-10 g.chr7:6196544C>T c.3801C>T c.(3799-3801)gtC>gtT p.V1267V LIHC 7 6150812 6150812 + Silent SNP T T C TCGA-2Y-A9H8-01A-11D-A38X-10 TCGA-2Y-A9H8-10A-01D-A38X-10 g.chr7:6150812T>C c.48T>C c.(46-48)taT>taC p.Y16Y LIHC 7 6183734 6183734 + Silent SNP A A T TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr7:6183734A>T c.897A>T c.(895-897)ccA>ccT p.P299P LIHC 7 6187455 6187455 + Missense_Mutation SNP C C T TCGA-DD-A73G-01A-22D-A32G-10 TCGA-DD-A73G-10A-01D-A32G-10 g.chr7:6187455C>T c.1318C>T c.(1318-1320)Cgg>Tgg p.R440W LIHC 7 6189266 6189266 + Frame_Shift_Del DEL C C - TCGA-DD-A113-01A-11D-A12Z-10 TCGA-DD-A113-10A-01D-A12Z-10 g.chr7:6189266delC c.1439delC c.(1438-1440)tccfs p.S480fs LIHC 7 6189723 6189723 + Silent SNP G G A TCGA-DD-AADR-01A-11D-A40R-10 TCGA-DD-AADR-10A-01D-A40U-10 g.chr7:6189723G>A c.1896G>A c.(1894-1896)gtG>gtA p.V632V LIHC 7 6189834 6189834 + Silent SNP G G A TCGA-ED-A7PZ-01A-11D-A33Q-10 TCGA-ED-A7PZ-10A-01D-A33Q-10 g.chr7:6189834G>A c.2007G>A c.(2005-2007)ccG>ccA p.P669P LUAD 7 6182611 6182611 + Missense_Mutation SNP C C G TCGA-05-4420-01A-01D-1265-08 TCGA-05-4420-10A-01D-1265-08 g.chr7:6182611C>G c.844C>G c.(844-846)Cag>Gag p.Q282E LUAD 7 6189538 6189538 + Missense_Mutation SNP A A T TCGA-55-7907-01A-11D-2167-08 TCGA-55-7907-10A-01D-2167-08 g.chr7:6189538A>T c.1711A>T c.(1711-1713)Acg>Tcg p.T571S LUAD 7 6189606 6189606 + Missense_Mutation SNP G G A TCGA-80-5607-01A-31D-1945-08 TCGA-80-5607-10A-01D-1946-08 g.chr7:6189606G>A c.1779G>A c.(1777-1779)atG>atA p.M593I LUAD 7 6189873 6189873 + Silent SNP A A G TCGA-17-Z022-01A-01W-0746-08 TCGA-17-Z022-11A-01W-0746-08 g.chr7:6189873A>G c.2046A>G c.(2044-2046)caA>caG p.Q682Q LUAD 7 6196425 6196425 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr7:6196425G>A c.3682G>A c.(3682-3684)Gct>Act p.A1228T LUSC 7 6183809 6183809 + Silent SNP C C T TCGA-18-4721-01A-01D-1441-08 TCGA-18-4721-11A-01D-1441-08 g.chr7:6183809C>T c.972C>T c.(970-972)acC>acT p.T324T LUSC 7 6187427 6187427 + Missense_Mutation SNP G G C TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 g.chr7:6187427G>C c.1290G>C c.(1288-1290)caG>caC p.Q430H LUSC 7 6189570 6189570 + Silent SNP G G A TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 g.chr7:6189570G>A c.1743G>A c.(1741-1743)ccG>ccA p.P581P LUSC 7 6189578 6189578 + Missense_Mutation SNP G G A TCGA-66-2794-01A-01D-1267-08 TCGA-66-2794-11A-01D-1267-08 g.chr7:6189578G>A c.1751G>A c.(1750-1752)cGc>cAc p.R584H LUSC 7 6189676 6189676 + Missense_Mutation SNP G G A TCGA-66-2795-01A-02D-0983-08 TCGA-66-2795-11A-01D-0983-08 g.chr7:6189676G>A c.1849G>A c.(1849-1851)Gag>Aag p.E617K LUSC 7 6189851 6189851 + Missense_Mutation SNP C C T TCGA-39-5030-01A-01D-1441-08 TCGA-39-5030-11A-01D-1441-08 g.chr7:6189851C>T c.2024C>T c.(2023-2025)gCg>gTg p.A675V OV 7 6182631 6182631 + Silent SNP G G C TCGA-09-1674-01A-01W-0633-09 TCGA-09-1674-10A-01W-0633-09 g.chr7:6182631G>C c.864G>C c.(862-864)tcG>tcC p.S288S PAAD 7 6185257 6185257 + Silent SNP C C T TCGA-2J-AAB1-01A-11D-A40W-08 TCGA-2J-AAB1-10A-01D-A40W-08 g.chr7:6185257C>T c.1101C>T c.(1099-1101)tgC>tgT p.C367C PAAD 7 6196451 6196451 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:6196451G>T c.3708G>T c.(3706-3708)aaG>aaT p.K1236N PRAD 7 6187373 6187373 + Silent SNP C C T TCGA-KK-A8I5-01A-11D-A364-08 TCGA-KK-A8I5-11A-11D-A362-08 g.chr7:6187373C>T c.1236C>T c.(1234-1236)tcC>tcT p.S412S SKCM 7 6155094 6155094 + Missense_Mutation SNP T T C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr7:6155094T>C c.382T>C c.(382-384)Tgt>Cgt p.C128R SKCM 7 6183809 6183809 + Silent SNP C C T TCGA-OD-A75X-06A-12D-A32N-08 TCGA-OD-A75X-10A-01D-A32N-08 g.chr7:6183809C>T c.972C>T c.(970-972)acC>acT p.T324T SKCM 7 6187441 6187441 + Missense_Mutation SNP C C T TCGA-EE-A29H-06A-12D-A197-08 TCGA-EE-A29H-10A-01D-A199-08 g.chr7:6187441C>T c.1304C>T c.(1303-1305)cCc>cTc p.P435L SKCM 7 6187442 6187442 + Silent SNP C C T TCGA-EE-A29H-06A-12D-A197-08 TCGA-EE-A29H-10A-01D-A199-08 g.chr7:6187442C>T c.1305C>T c.(1303-1305)ccC>ccT p.P435P SKCM 7 6189856 6189856 + Missense_Mutation SNP G G A TCGA-EE-A2GP-06A-11D-A197-08 TCGA-EE-A2GP-10A-01D-A199-08 g.chr7:6189856G>A c.2029G>A c.(2029-2031)Gat>Aat p.D677N SKCM 7 6189901 6189901 + Missense_Mutation SNP C C T TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr7:6189901C>T c.2074C>T c.(2074-2076)Ccc>Tcc p.P692S SKCM 7 6196551 6196551 + Missense_Mutation SNP T T C TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr7:6196551T>C c.3808T>C c.(3808-3810)Ttc>Ctc p.F1270L SKCM 7 6196598 6196598 + Silent SNP G G A TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr7:6196598G>A c.3855G>A c.(3853-3855)ctG>ctA p.L1285L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 7 6180583 6180583 single base substitution G C 3_prime_UTR_variant BLCA-US 7 6180583 6180583 single base substitution G C exon_variant BLCA-US 7 6180583 6180583 single base substitution G C missense_variant D101H 301G>C BLCA-US 7 6180583 6180583 single base substitution G C missense_variant D188H 562G>C BLCA-US 7 6180583 6180583 single base substitution G C missense_variant D255H 763G>C BLCA-US 7 6189333 6189333 single base substitution C T 3_prime_UTR_variant BLCA-US 7 6189333 6189333 single base substitution C T downstream_gene_variant BLCA-US 7 6189333 6189333 single base substitution C T exon_variant BLCA-US 7 6189333 6189333 single base substitution C T synonymous_variant V348V 1044C>T BLCA-US 7 6189333 6189333 single base substitution C T synonymous_variant V435V 1305C>T BLCA-US 7 6189333 6189333 single base substitution C T synonymous_variant V502V 1506C>T BLCA-US 7 6193699 6193699 single base substitution G A 3_prime_UTR_variant BLCA-US 7 6193699 6193699 single base substitution G A downstream_gene_variant BLCA-US 7 6193699 6193699 single base substitution G A exon_variant BLCA-US 7 6193699 6193699 single base substitution G A missense_variant M684I 2052G>A BLCA-US 7 6193699 6193699 single base substitution G A missense_variant M838I 2514G>A BOCA-FR 7 6178964 6178964 single base substitution C T 3_prime_UTR_variant BOCA-FR 7 6178964 6178964 single base substitution C T intron_variant BRCA-EU 7 6140029 6140029 single base substitution C G upstream_gene_variant BRCA-EU 7 6140945 6140945 single base substitution T C upstream_gene_variant BRCA-EU 7 6140955 6140955 single base substitution C G upstream_gene_variant BRCA-EU 7 6145898 6145902 deletion of <=200bp TTCTC - intron_variant BRCA-EU 7 6146072 6146072 single base substitution G A intron_variant BRCA-EU 7 6147127 6147127 single base substitution G A intron_variant BRCA-EU 7 6147672 6147672 single base substitution G A intron_variant BRCA-EU 7 6149589 6149589 single base substitution C A intron_variant BRCA-EU 7 6149590 6149590 single base substitution C A intron_variant BRCA-EU 7 6149956 6149956 single base substitution G C intron_variant BRCA-EU 7 6152057 6152057 single base substitution G A intron_variant BRCA-EU 7 6152057 6152057 single base substitution G A upstream_gene_variant BRCA-EU 7 6153200 6153200 single base substitution C G intron_variant BRCA-EU 7 6153200 6153200 single base substitution C G upstream_gene_variant BRCA-EU 7 6153742 6153742 single base substitution C G intron_variant BRCA-EU 7 6153742 6153742 single base substitution C G upstream_gene_variant BRCA-EU 7 6154148 6154148 single base substitution A G intron_variant BRCA-EU 7 6154148 6154148 single base substitution A G upstream_gene_variant BRCA-EU 7 6154633 6154633 insertion of <=200bp - A intron_variant BRCA-EU 7 6154633 6154633 insertion of <=200bp - A upstream_gene_variant BRCA-EU 7 6156259 6156259 deletion of <=200bp T - 5_prime_UTR_variant BRCA-EU 7 6156259 6156259 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 6156259 6156259 deletion of <=200bp T - intron_variant BRCA-EU 7 6156439 6156439 single base substitution C A 5_prime_UTR_variant BRCA-EU 7 6156439 6156439 single base substitution C A downstream_gene_variant BRCA-EU 7 6156439 6156439 single base substitution C A exon_variant BRCA-EU 7 6156439 6156439 single base substitution C A intron_variant BRCA-EU 7 6157696 6157696 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 6157696 6157696 deletion of <=200bp T - intron_variant BRCA-EU 7 6157848 6157848 single base substitution G C downstream_gene_variant BRCA-EU 7 6157848 6157848 single base substitution G C intron_variant BRCA-EU 7 6157867 6157867 insertion of <=200bp - T downstream_gene_variant BRCA-EU 7 6157867 6157867 insertion of <=200bp - T intron_variant BRCA-EU 7 6157895 6157895 insertion of <=200bp - GT downstream_gene_variant BRCA-EU 7 6157895 6157895 insertion of <=200bp - GT intron_variant BRCA-EU 7 6158422 6158422 single base substitution G C downstream_gene_variant BRCA-EU 7 6158422 6158422 single base substitution G C intron_variant BRCA-EU 7 6159056 6159056 single base substitution T A downstream_gene_variant BRCA-EU 7 6159056 6159056 single base substitution T A intron_variant BRCA-EU 7 6159343 6159343 deletion of <=200bp T - downstream_gene_variant BRCA-EU 7 6159343 6159343 deletion of <=200bp T - intron_variant BRCA-EU 7 6160825 6160825 single base substitution T A intron_variant BRCA-EU 7 6161930 6161930 single base substitution A T intron_variant BRCA-EU 7 6162657 6162657 single base substitution G A intron_variant BRCA-EU 7 6166387 6166387 single base substitution A C intron_variant BRCA-EU 7 6169092 6169092 single base substitution G T intron_variant BRCA-EU 7 6169774 6169774 single base substitution G A intron_variant BRCA-EU 7 6171208 6171208 single base substitution G A intron_variant BRCA-EU 7 6171832 6171832 single base substitution C T intron_variant BRCA-EU 7 6172573 6172573 single base substitution A G intron_variant BRCA-EU 7 6172574 6172574 single base substitution T G intron_variant BRCA-EU 7 6172575 6172575 single base substitution T A intron_variant BRCA-EU 7 6173195 6173195 single base substitution G T intron_variant BRCA-EU 7 6174428 6174428 insertion of <=200bp - T intron_variant BRCA-EU 7 6174867 6174867 single base substitution C G intron_variant BRCA-EU 7 6174883 6174883 single base substitution C T intron_variant BRCA-EU 7 6175063 6175063 single base substitution G C intron_variant BRCA-EU 7 6176371 6176371 single base substitution C A intron_variant BRCA-EU 7 6176598 6176598 single base substitution C G intron_variant BRCA-EU 7 6176707 6176707 single base substitution A G intron_variant BRCA-EU 7 6176995 6176995 single base substitution C T intron_variant BRCA-EU 7 6177039 6177039 single base substitution G A intron_variant BRCA-EU 7 6178826 6178826 single base substitution G A exon_variant BRCA-EU 7 6178826 6178826 single base substitution G A splice_donor_variant BRCA-EU 7 6179182 6179182 single base substitution G C 3_prime_UTR_variant BRCA-EU 7 6179182 6179182 single base substitution G C intron_variant BRCA-EU 7 6179401 6179401 single base substitution T C 3_prime_UTR_variant BRCA-EU 7 6179401 6179401 single base substitution T C intron_variant BRCA-EU 7 6180381 6180381 single base substitution C G intron_variant BRCA-EU 7 6182410 6182410 single base substitution G T intron_variant BRCA-EU 7 6184514 6184514 single base substitution T A intron_variant BRCA-EU 7 6185693 6185693 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 6185693 6185693 deletion of <=200bp A - intron_variant BRCA-EU 7 6185887 6185887 single base substitution C A downstream_gene_variant BRCA-EU 7 6185887 6185887 single base substitution C A splice_region_variant BRCA-EU 7 6187344 6187344 single base substitution C G downstream_gene_variant BRCA-EU 7 6187344 6187344 single base substitution C G intron_variant BRCA-EU 7 6187982 6187982 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 6187982 6187982 deletion of <=200bp A - intron_variant BRCA-EU 7 6188619 6188619 single base substitution G A downstream_gene_variant BRCA-EU 7 6188619 6188619 single base substitution G A intron_variant BRCA-EU 7 6189071 6189072 deletion of <=200bp AG - downstream_gene_variant BRCA-EU 7 6189071 6189072 deletion of <=200bp AG - intron_variant BRCA-EU 7 6189770 6189770 single base substitution C T 3_prime_UTR_variant BRCA-EU 7 6189770 6189770 single base substitution C T downstream_gene_variant BRCA-EU 7 6189770 6189770 single base substitution C T exon_variant BRCA-EU 7 6189770 6189770 single base substitution C T missense_variant P494L 1481C>T BRCA-EU 7 6189770 6189770 single base substitution C T missense_variant P648L 1943C>T BRCA-EU 7 6189972 6189972 single base substitution G T downstream_gene_variant BRCA-EU 7 6189972 6189972 single base substitution G T intron_variant BRCA-EU 7 6189993 6189993 single base substitution G C downstream_gene_variant BRCA-EU 7 6189993 6189993 single base substitution G C intron_variant BRCA-EU 7 6190235 6190235 single base substitution A T downstream_gene_variant BRCA-EU 7 6190235 6190235 single base substitution A T intron_variant BRCA-EU 7 6190717 6190717 single base substitution A T downstream_gene_variant BRCA-EU 7 6190717 6190717 single base substitution A T intron_variant BRCA-EU 7 6195358 6195358 single base substitution C G downstream_gene_variant BRCA-EU 7 6195358 6195358 single base substitution C G intron_variant BRCA-EU 7 6195879 6195879 single base substitution C T downstream_gene_variant BRCA-EU 7 6195879 6195879 single base substitution C T intron_variant BRCA-EU 7 6196443 6196443 deletion of <=200bp A - 3_prime_UTR_variant BRCA-EU 7 6196443 6196443 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 6196443 6196443 deletion of <=200bp A - exon_variant BRCA-EU 7 6196443 6196443 deletion of <=200bp A - frameshift_variant K1234 BRCA-EU 7 6197088 6197088 single base substitution C T downstream_gene_variant BRCA-EU 7 6197088 6197088 single base substitution C T intron_variant BRCA-EU 7 6197092 6197092 single base substitution G A downstream_gene_variant BRCA-EU 7 6197092 6197092 single base substitution G A intron_variant BRCA-EU 7 6197295 6197295 single base substitution C T downstream_gene_variant BRCA-EU 7 6197295 6197295 single base substitution C T intron_variant BRCA-EU 7 6198355 6198355 single base substitution C T downstream_gene_variant BRCA-EU 7 6198355 6198355 single base substitution C T intron_variant BRCA-EU 7 6198846 6198846 single base substitution C T downstream_gene_variant BRCA-EU 7 6198846 6198846 single base substitution C T intron_variant BRCA-EU 7 6199326 6199326 single base substitution C T downstream_gene_variant BRCA-EU 7 6199326 6199326 single base substitution C T intron_variant BRCA-EU 7 6202279 6202279 single base substitution A G downstream_gene_variant BRCA-EU 7 6202585 6202585 single base substitution G A downstream_gene_variant BRCA-EU 7 6203428 6203428 single base substitution G T downstream_gene_variant BRCA-EU 7 6204192 6204192 single base substitution G A downstream_gene_variant BRCA-EU 7 6206164 6206164 single base substitution G A downstream_gene_variant BRCA-FR 7 6144564 6144564 single base substitution C G 5_prime_UTR_variant BRCA-FR 7 6144564 6144564 single base substitution C G upstream_gene_variant BRCA-FR 7 6150262 6150262 single base substitution G T intron_variant BRCA-FR 7 6153200 6153200 single base substitution C G intron_variant BRCA-FR 7 6153200 6153200 single base substitution C G upstream_gene_variant BRCA-FR 7 6153742 6153742 single base substitution C G intron_variant BRCA-FR 7 6153742 6153742 single base substitution C G upstream_gene_variant BRCA-FR 7 6154148 6154148 single base substitution A G intron_variant BRCA-FR 7 6154148 6154148 single base substitution A G upstream_gene_variant BRCA-FR 7 6157848 6157848 single base substitution G C downstream_gene_variant BRCA-FR 7 6157848 6157848 single base substitution G C intron_variant BRCA-FR 7 6158422 6158422 single base substitution G C downstream_gene_variant BRCA-FR 7 6158422 6158422 single base substitution G C intron_variant BRCA-FR 7 6160696 6160696 single base substitution G C intron_variant BRCA-FR 7 6162657 6162657 single base substitution G A intron_variant BRCA-FR 7 6164713 6164713 single base substitution G A intron_variant BRCA-FR 7 6175063 6175063 single base substitution G C intron_variant BRCA-FR 7 6176598 6176598 single base substitution C G intron_variant BRCA-FR 7 6176995 6176995 single base substitution C T intron_variant BRCA-FR 7 6182410 6182410 single base substitution G T intron_variant BRCA-FR 7 6187344 6187344 single base substitution C G downstream_gene_variant BRCA-FR 7 6187344 6187344 single base substitution C G intron_variant BRCA-FR 7 6188619 6188619 single base substitution G A downstream_gene_variant BRCA-FR 7 6188619 6188619 single base substitution G A intron_variant BRCA-FR 7 6198765 6198765 single base substitution C T downstream_gene_variant BRCA-FR 7 6198765 6198765 single base substitution C T intron_variant BRCA-UK 7 6140029 6140029 single base substitution C G upstream_gene_variant BRCA-UK 7 6146072 6146072 single base substitution G A intron_variant BRCA-UK 7 6154633 6154633 insertion of <=200bp - A intron_variant BRCA-UK 7 6154633 6154633 insertion of <=200bp - A upstream_gene_variant BRCA-UK 7 6190717 6190717 single base substitution A T downstream_gene_variant BRCA-UK 7 6190717 6190717 single base substitution A T intron_variant BRCA-US 7 6155014 6155014 single base substitution T G downstream_gene_variant BRCA-US 7 6155014 6155014 single base substitution T G exon_variant BRCA-US 7 6155014 6155014 single base substitution T G intron_variant BRCA-US 7 6155014 6155014 single base substitution T G missense_variant L101R 302T>G BRCA-US 7 6155014 6155014 single base substitution T G upstream_gene_variant BRCA-US 7 6175584 6175584 single base substitution T A splice_donor_variant BRCA-US 7 6194543 6194546 deletion of <=200bp GGCG - 3_prime_UTR_variant BRCA-US 7 6194543 6194546 deletion of <=200bp GGCG - exon_variant BRCA-US 7 6194543 6194546 deletion of <=200bp GGCG - frameshift_variant GA1120 BRCA-US 7 6194543 6194546 deletion of <=200bp GGCG - frameshift_variant GA966 BRCA-US 7 6196443 6196443 deletion of <=200bp A - 3_prime_UTR_variant BRCA-US 7 6196443 6196443 deletion of <=200bp A - downstream_gene_variant BRCA-US 7 6196443 6196443 deletion of <=200bp A - exon_variant BRCA-US 7 6196443 6196443 deletion of <=200bp A - frameshift_variant K1234 BRCA-US 7 6196533 6196533 single base substitution T G 3_prime_UTR_variant BRCA-US 7 6196533 6196533 single base substitution T G downstream_gene_variant BRCA-US 7 6196533 6196533 single base substitution T G exon_variant BRCA-US 7 6196533 6196533 single base substitution T G missense_variant L1264V 3790T>G BRCA-US 7 6204474 6204474 single base substitution G A downstream_gene_variant BRCA-US 7 6204633 6204633 single base substitution C G downstream_gene_variant BTCA-JP 7 6183836 6183836 single base substitution A G intron_variant BTCA-JP 7 6187422 6187422 single base substitution G A 3_prime_UTR_variant BTCA-JP 7 6187422 6187422 single base substitution G A downstream_gene_variant BTCA-JP 7 6187422 6187422 single base substitution G A exon_variant BTCA-JP 7 6187422 6187422 single base substitution G A missense_variant G275S 823G>A BTCA-JP 7 6187422 6187422 single base substitution G A missense_variant G362S 1084G>A BTCA-JP 7 6187422 6187422 single base substitution G A missense_variant G429S 1285G>A BTCA-JP 7 6193506 6193506 single base substitution A C 3_prime_UTR_variant BTCA-JP 7 6193506 6193506 single base substitution A C downstream_gene_variant BTCA-JP 7 6193506 6193506 single base substitution A C exon_variant BTCA-JP 7 6193506 6193506 single base substitution A C missense_variant K620T 1859A>C BTCA-JP 7 6193506 6193506 single base substitution A C missense_variant K774T 2321A>C BTCA-JP 7 6194186 6194186 single base substitution G A 3_prime_UTR_variant BTCA-JP 7 6194186 6194186 single base substitution G A downstream_gene_variant BTCA-JP 7 6194186 6194186 single base substitution G A exon_variant BTCA-JP 7 6194186 6194186 single base substitution G A missense_variant G1001S 3001G>A BTCA-JP 7 6194186 6194186 single base substitution G A missense_variant G847S 2539G>A BTCA-JP 7 6194782 6194782 single base substitution G T 3_prime_UTR_variant BTCA-JP 7 6194782 6194782 single base substitution G T downstream_gene_variant BTCA-JP 7 6194782 6194782 single base substitution G T exon_variant BTCA-JP 7 6194782 6194782 single base substitution G T missense_variant K1199N 3597G>T BTCA-JP 7 6196443 6196443 deletion of <=200bp A - 3_prime_UTR_variant BTCA-JP 7 6196443 6196443 deletion of <=200bp A - downstream_gene_variant BTCA-JP 7 6196443 6196443 deletion of <=200bp A - exon_variant BTCA-JP 7 6196443 6196443 deletion of <=200bp A - frameshift_variant K1234 BTCA-JP 7 6196450 6196450 single base substitution A G 3_prime_UTR_variant BTCA-JP 7 6196450 6196450 single base substitution A G downstream_gene_variant BTCA-JP 7 6196450 6196450 single base substitution A G exon_variant BTCA-JP 7 6196450 6196450 single base substitution A G missense_variant K1236R 3707A>G BTCA-JP 7 6196741 6196741 single base substitution C A downstream_gene_variant BTCA-JP 7 6196741 6196741 single base substitution C A exon_variant BTCA-JP 7 6196741 6196741 single base substitution C A intron_variant BTCA-JP 7 6205417 6205417 single base substitution C T downstream_gene_variant CESC-US 7 6154999 6154999 single base substitution C G 3_prime_UTR_variant CESC-US 7 6154999 6154999 single base substitution C G exon_variant CESC-US 7 6154999 6154999 single base substitution C G intron_variant CESC-US 7 6154999 6154999 single base substitution C G missense_variant S96C 287C>G CESC-US 7 6154999 6154999 single base substitution C G upstream_gene_variant CESC-US 7 6182606 6182606 single base substitution C T 3_prime_UTR_variant CESC-US 7 6182606 6182606 single base substitution C T exon_variant CESC-US 7 6182606 6182606 single base substitution C T missense_variant P126L 377C>T CESC-US 7 6182606 6182606 single base substitution C T missense_variant P213L 638C>T CESC-US 7 6182606 6182606 single base substitution C T missense_variant P280L 839C>T CESC-US 7 6189273 6189273 single base substitution G A 3_prime_UTR_variant CESC-US 7 6189273 6189273 single base substitution G A downstream_gene_variant CESC-US 7 6189273 6189273 single base substitution G A exon_variant CESC-US 7 6189273 6189273 single base substitution G A synonymous_variant S328S 984G>A CESC-US 7 6189273 6189273 single base substitution G A synonymous_variant S415S 1245G>A CESC-US 7 6189273 6189273 single base substitution G A synonymous_variant S482S 1446G>A CESC-US 7 6189655 6189655 single base substitution G A 3_prime_UTR_variant CESC-US 7 6189655 6189655 single base substitution G A downstream_gene_variant CESC-US 7 6189655 6189655 single base substitution G A exon_variant CESC-US 7 6189655 6189655 single base substitution G A missense_variant E456K 1366G>A CESC-US 7 6189655 6189655 single base substitution G A missense_variant E610K 1828G>A CESC-US 7 6204918 6204918 single base substitution C T downstream_gene_variant CESC-US 7 6204977 6204977 single base substitution C T downstream_gene_variant CLLE-ES 7 6174672 6174672 single base substitution C T intron_variant COAD-US 7 6183788 6183788 single base substitution G T 3_prime_UTR_variant COAD-US 7 6183788 6183788 single base substitution G T exon_variant COAD-US 7 6183788 6183788 single base substitution G T synonymous_variant L163L 489G>T COAD-US 7 6183788 6183788 single base substitution G T synonymous_variant L250L 750G>T COAD-US 7 6183788 6183788 single base substitution G T synonymous_variant L317L 951G>T COAD-US 7 6187417 6187417 single base substitution G A 3_prime_UTR_variant COAD-US 7 6187417 6187417 single base substitution G A downstream_gene_variant COAD-US 7 6187417 6187417 single base substitution G A exon_variant COAD-US 7 6187417 6187417 single base substitution G A missense_variant S273N 818G>A COAD-US 7 6187417 6187417 single base substitution G A missense_variant S360N 1079G>A COAD-US 7 6187417 6187417 single base substitution G A missense_variant S427N 1280G>A COAD-US 7 6187422 6187422 single base substitution G A 3_prime_UTR_variant COAD-US 7 6187422 6187422 single base substitution G A downstream_gene_variant COAD-US 7 6187422 6187422 single base substitution G A exon_variant COAD-US 7 6187422 6187422 single base substitution G A missense_variant G275S 823G>A COAD-US 7 6187422 6187422 single base substitution G A missense_variant G362S 1084G>A COAD-US 7 6187422 6187422 single base substitution G A missense_variant G429S 1285G>A COAD-US 7 6189710 6189710 single base substitution T A 3_prime_UTR_variant COAD-US 7 6189710 6189710 single base substitution T A downstream_gene_variant COAD-US 7 6189710 6189710 single base substitution T A exon_variant COAD-US 7 6189710 6189710 single base substitution T A missense_variant I474N 1421T>A COAD-US 7 6189710 6189710 single base substitution T A missense_variant I628N 1883T>A COAD-US 7 6189714 6189714 single base substitution T C 3_prime_UTR_variant COAD-US 7 6189714 6189714 single base substitution T C downstream_gene_variant COAD-US 7 6189714 6189714 single base substitution T C exon_variant COAD-US 7 6189714 6189714 single base substitution T C synonymous_variant G475G 1425T>C COAD-US 7 6189714 6189714 single base substitution T C synonymous_variant G629G 1887T>C COAD-US 7 6189845 6189845 single base substitution G A 3_prime_UTR_variant COAD-US 7 6189845 6189845 single base substitution G A downstream_gene_variant COAD-US 7 6189845 6189845 single base substitution G A exon_variant COAD-US 7 6189845 6189845 single base substitution G A missense_variant G519D 1556G>A COAD-US 7 6189845 6189845 single base substitution G A missense_variant G673D 2018G>A COAD-US 7 6189919 6189919 single base substitution G A 3_prime_UTR_variant COAD-US 7 6189919 6189919 single base substitution G A downstream_gene_variant COAD-US 7 6189919 6189919 single base substitution G A exon_variant COAD-US 7 6189919 6189919 single base substitution G A missense_variant G544S 1630G>A COAD-US 7 6189919 6189919 single base substitution G A missense_variant G698S 2092G>A COAD-US 7 6193521 6193521 single base substitution G C 3_prime_UTR_variant COAD-US 7 6193521 6193521 single base substitution G C downstream_gene_variant COAD-US 7 6193521 6193521 single base substitution G C exon_variant COAD-US 7 6193521 6193521 single base substitution G C missense_variant R625P 1874G>C COAD-US 7 6193521 6193521 single base substitution G C missense_variant R779P 2336G>C COAD-US 7 6193675 6193675 single base substitution G A 3_prime_UTR_variant COAD-US 7 6193675 6193675 single base substitution G A downstream_gene_variant COAD-US 7 6193675 6193675 single base substitution G A exon_variant COAD-US 7 6193675 6193675 single base substitution G A synonymous_variant P676P 2028G>A COAD-US 7 6193675 6193675 single base substitution G A synonymous_variant P830P 2490G>A COAD-US 7 6193752 6193752 single base substitution G A 3_prime_UTR_variant COAD-US 7 6193752 6193752 single base substitution G A downstream_gene_variant COAD-US 7 6193752 6193752 single base substitution G A exon_variant COAD-US 7 6193752 6193752 single base substitution G A missense_variant S702N 2105G>A COAD-US 7 6193752 6193752 single base substitution G A missense_variant S856N 2567G>A COAD-US 7 6193813 6193813 single base substitution C A 3_prime_UTR_variant COAD-US 7 6193813 6193813 single base substitution C A downstream_gene_variant COAD-US 7 6193813 6193813 single base substitution C A exon_variant COAD-US 7 6193813 6193813 single base substitution C A missense_variant S722R 2166C>A COAD-US 7 6193813 6193813 single base substitution C A missense_variant S876R 2628C>A COAD-US 7 6193908 6193908 single base substitution C T 3_prime_UTR_variant COAD-US 7 6193908 6193908 single base substitution C T downstream_gene_variant COAD-US 7 6193908 6193908 single base substitution C T exon_variant COAD-US 7 6193908 6193908 single base substitution C T missense_variant P754L 2261C>T COAD-US 7 6193908 6193908 single base substitution C T missense_variant P908L 2723C>T COAD-US 7 6194003 6194003 single base substitution G A 3_prime_UTR_variant COAD-US 7 6194003 6194003 single base substitution G A downstream_gene_variant COAD-US 7 6194003 6194003 single base substitution G A exon_variant COAD-US 7 6194003 6194003 single base substitution G A missense_variant E786K 2356G>A COAD-US 7 6194003 6194003 single base substitution G A missense_variant E940K 2818G>A COAD-US 7 6194230 6194230 single base substitution C T 3_prime_UTR_variant COAD-US 7 6194230 6194230 single base substitution C T downstream_gene_variant COAD-US 7 6194230 6194230 single base substitution C T exon_variant COAD-US 7 6194230 6194230 single base substitution C T synonymous_variant G1015G 3045C>T COAD-US 7 6194230 6194230 single base substitution C T synonymous_variant G861G 2583C>T COAD-US 7 6194427 6194427 single base substitution G A 3_prime_UTR_variant COAD-US 7 6194427 6194427 single base substitution G A downstream_gene_variant COAD-US 7 6194427 6194427 single base substitution G A exon_variant COAD-US 7 6194427 6194427 single base substitution G A missense_variant R1081H 3242G>A COAD-US 7 6194427 6194427 single base substitution G A missense_variant R927H 2780G>A COAD-US 7 6194574 6194574 single base substitution A G 3_prime_UTR_variant COAD-US 7 6194574 6194574 single base substitution A G exon_variant COAD-US 7 6194574 6194574 single base substitution A G missense_variant D1130G 3389A>G COAD-US 7 6194574 6194574 single base substitution A G missense_variant D976G 2927A>G COAD-US 7 6194576 6194576 single base substitution C T 3_prime_UTR_variant COAD-US 7 6194576 6194576 single base substitution C T exon_variant COAD-US 7 6194576 6194576 single base substitution C T missense_variant R1131C 3391C>T COAD-US 7 6194576 6194576 single base substitution C T missense_variant R977C 2929C>T COAD-US 7 6196400 6196400 single base substitution A G 3_prime_UTR_variant COAD-US 7 6196400 6196400 single base substitution A G downstream_gene_variant COAD-US 7 6196400 6196400 single base substitution A G exon_variant COAD-US 7 6196400 6196400 single base substitution A G synonymous_variant S1219S 3657A>G COAD-US 7 6196638 6196638 single base substitution C T 3_prime_UTR_variant COAD-US 7 6196638 6196638 single base substitution C T downstream_gene_variant COAD-US 7 6196638 6196638 single base substitution C T exon_variant COAD-US 7 6196638 6196638 single base substitution C T missense_variant R1299W 3895C>T COAD-US 7 6204577 6204577 insertion of <=200bp - T downstream_gene_variant COAD-US 7 6204984 6204984 single base substitution G A downstream_gene_variant COCA-CN 7 6154989 6154989 single base substitution C A 3_prime_UTR_variant COCA-CN 7 6154989 6154989 single base substitution C A exon_variant COCA-CN 7 6154989 6154989 single base substitution C A intron_variant COCA-CN 7 6154989 6154989 single base substitution C A missense_variant L93I 277C>A COCA-CN 7 6154989 6154989 single base substitution C A upstream_gene_variant COCA-CN 7 6174725 6174725 single base substitution C T intron_variant COCA-CN 7 6175579 6175579 single base substitution C T 3_prime_UTR_variant COCA-CN 7 6175579 6175579 single base substitution C T exon_variant COCA-CN 7 6175579 6175579 single base substitution C T missense_variant R117W 349C>T COCA-CN 7 6175579 6175579 single base substitution C T missense_variant R184W 550C>T COCA-CN 7 6175579 6175579 single base substitution C T missense_variant R30W 88C>T COCA-CN 7 6175781 6175781 single base substitution G A intron_variant COCA-CN 7 6185007 6185007 single base substitution A G intron_variant COCA-CN 7 6185706 6185706 single base substitution G T downstream_gene_variant COCA-CN 7 6185706 6185706 single base substitution G T intron_variant COCA-CN 7 6189801 6189801 single base substitution C T 3_prime_UTR_variant COCA-CN 7 6189801 6189801 single base substitution C T downstream_gene_variant COCA-CN 7 6189801 6189801 single base substitution C T exon_variant COCA-CN 7 6189801 6189801 single base substitution C T synonymous_variant N504N 1512C>T COCA-CN 7 6189801 6189801 single base substitution C T synonymous_variant N658N 1974C>T COCA-CN 7 6191895 6191895 single base substitution A G downstream_gene_variant COCA-CN 7 6191895 6191895 single base substitution A G intron_variant COCA-CN 7 6193579 6193579 single base substitution C T 3_prime_UTR_variant COCA-CN 7 6193579 6193579 single base substitution C T downstream_gene_variant COCA-CN 7 6193579 6193579 single base substitution C T exon_variant COCA-CN 7 6193579 6193579 single base substitution C T synonymous_variant P644P 1932C>T COCA-CN 7 6193579 6193579 single base substitution C T synonymous_variant P798P 2394C>T COCA-CN 7 6194253 6194253 single base substitution G A 3_prime_UTR_variant COCA-CN 7 6194253 6194253 single base substitution G A downstream_gene_variant COCA-CN 7 6194253 6194253 single base substitution G A exon_variant COCA-CN 7 6194253 6194253 single base substitution G A missense_variant R1023Q 3068G>A COCA-CN 7 6194253 6194253 single base substitution G A missense_variant R869Q 2606G>A COCA-CN 7 6194428 6194428 single base substitution C T 3_prime_UTR_variant COCA-CN 7 6194428 6194428 single base substitution C T downstream_gene_variant COCA-CN 7 6194428 6194428 single base substitution C T exon_variant COCA-CN 7 6194428 6194428 single base substitution C T synonymous_variant R1081R 3243C>T COCA-CN 7 6194428 6194428 single base substitution C T synonymous_variant R927R 2781C>T COCA-CN 7 6196338 6196338 single base substitution G C downstream_gene_variant COCA-CN 7 6196338 6196338 single base substitution G C intron_variant COCA-CN 7 6196851 6196851 single base substitution A G downstream_gene_variant COCA-CN 7 6196851 6196851 single base substitution A G exon_variant COCA-CN 7 6196851 6196851 single base substitution A G intron_variant COCA-CN 7 6199072 6199072 single base substitution G C downstream_gene_variant COCA-CN 7 6199072 6199072 single base substitution G C intron_variant COCA-CN 7 6204662 6204662 single base substitution A G downstream_gene_variant COCA-CN 7 6204731 6204731 single base substitution G T downstream_gene_variant COCA-CN 7 6205418 6205418 single base substitution G A downstream_gene_variant EOPC-DE 7 6185968 6185968 single base substitution T A downstream_gene_variant EOPC-DE 7 6185968 6185968 single base substitution T A intron_variant ESAD-UK 7 6139759 6139759 single base substitution C T upstream_gene_variant ESAD-UK 7 6147742 6147742 single base substitution G A intron_variant ESAD-UK 7 6148357 6148357 single base substitution G A intron_variant ESAD-UK 7 6151556 6151556 deletion of <=200bp T - 3_prime_UTR_variant ESAD-UK 7 6151556 6151556 deletion of <=200bp T - intron_variant ESAD-UK 7 6151556 6151556 deletion of <=200bp T - upstream_gene_variant ESAD-UK 7 6153230 6153230 single base substitution A T intron_variant ESAD-UK 7 6153230 6153230 single base substitution A T upstream_gene_variant ESAD-UK 7 6158622 6158622 single base substitution G A downstream_gene_variant ESAD-UK 7 6158622 6158622 single base substitution G A intron_variant ESAD-UK 7 6162618 6162618 single base substitution C A intron_variant ESAD-UK 7 6163900 6163900 single base substitution C G intron_variant ESAD-UK 7 6168722 6168722 single base substitution C T intron_variant ESAD-UK 7 6170767 6170767 single base substitution C A intron_variant ESAD-UK 7 6171105 6171105 insertion of <=200bp - A intron_variant ESAD-UK 7 6171890 6171890 single base substitution C T intron_variant ESAD-UK 7 6175951 6175951 single base substitution T G intron_variant ESAD-UK 7 6176709 6176709 single base substitution T G intron_variant ESAD-UK 7 6177694 6177695 deletion of <=200bp TG - intron_variant ESAD-UK 7 6177845 6177845 single base substitution T G intron_variant ESAD-UK 7 6179735 6179735 single base substitution A G 3_prime_UTR_variant ESAD-UK 7 6179735 6179735 single base substitution A G intron_variant ESAD-UK 7 6183509 6183509 single base substitution C A intron_variant ESAD-UK 7 6185309 6185309 single base substitution T G downstream_gene_variant ESAD-UK 7 6185309 6185309 single base substitution T G intron_variant ESAD-UK 7 6186766 6186766 single base substitution C T downstream_gene_variant ESAD-UK 7 6186766 6186766 single base substitution C T intron_variant ESAD-UK 7 6189774 6189774 single base substitution C T 3_prime_UTR_variant ESAD-UK 7 6189774 6189774 single base substitution C T downstream_gene_variant ESAD-UK 7 6189774 6189774 single base substitution C T exon_variant ESAD-UK 7 6189774 6189774 single base substitution C T synonymous_variant H495H 1485C>T ESAD-UK 7 6189774 6189774 single base substitution C T synonymous_variant H649H 1947C>T ESAD-UK 7 6192377 6192377 single base substitution C A downstream_gene_variant ESAD-UK 7 6192377 6192377 single base substitution C A intron_variant ESAD-UK 7 6192799 6192799 single base substitution G A downstream_gene_variant ESAD-UK 7 6192799 6192799 single base substitution G A intron_variant ESAD-UK 7 6194938 6194938 single base substitution C T downstream_gene_variant ESAD-UK 7 6194938 6194938 single base substitution C T intron_variant ESAD-UK 7 6196443 6196443 deletion of <=200bp A - 3_prime_UTR_variant ESAD-UK 7 6196443 6196443 deletion of <=200bp A - downstream_gene_variant ESAD-UK 7 6196443 6196443 deletion of <=200bp A - exon_variant ESAD-UK 7 6196443 6196443 deletion of <=200bp A - frameshift_variant K1234 ESAD-UK 7 6197670 6197670 single base substitution G T downstream_gene_variant ESAD-UK 7 6197670 6197670 single base substitution G T intron_variant ESAD-UK 7 6197823 6197823 single base substitution G A downstream_gene_variant ESAD-UK 7 6197823 6197823 single base substitution G A intron_variant ESAD-UK 7 6199551 6199551 single base substitution C T downstream_gene_variant ESAD-UK 7 6199551 6199551 single base substitution C T intron_variant ESAD-UK 7 6199556 6199556 single base substitution C T downstream_gene_variant ESAD-UK 7 6199556 6199556 single base substitution C T intron_variant ESAD-UK 7 6202563 6202563 single base substitution C T downstream_gene_variant ESAD-UK 7 6206121 6206121 single base substitution C T downstream_gene_variant ESCA-CN 7 6178721 6178721 single base substitution A G splice_acceptor_variant ESCA-CN 7 6187480 6187480 single base substitution C T 3_prime_UTR_variant ESCA-CN 7 6187480 6187480 single base substitution C T downstream_gene_variant ESCA-CN 7 6187480 6187480 single base substitution C T exon_variant ESCA-CN 7 6187480 6187480 single base substitution C T missense_variant A294V 881C>T ESCA-CN 7 6187480 6187480 single base substitution C T missense_variant A381V 1142C>T ESCA-CN 7 6187480 6187480 single base substitution C T missense_variant A448V 1343C>T ESCA-CN 7 6196522 6196522 single base substitution G C 3_prime_UTR_variant ESCA-CN 7 6196522 6196522 single base substitution G C downstream_gene_variant ESCA-CN 7 6196522 6196522 single base substitution G C exon_variant ESCA-CN 7 6196522 6196522 single base substitution G C missense_variant R1260T 3779G>C ESCA-CN 7 6205509 6205509 single base substitution C T downstream_gene_variant GBM-US 7 6183728 6183728 single base substitution G A 3_prime_UTR_variant GBM-US 7 6183728 6183728 single base substitution G A exon_variant GBM-US 7 6183728 6183728 single base substitution G A missense_variant M143I 429G>A GBM-US 7 6183728 6183728 single base substitution G A missense_variant M230I 690G>A GBM-US 7 6183728 6183728 single base substitution G A missense_variant M297I 891G>A GBM-US 7 6189851 6189851 single base substitution C T 3_prime_UTR_variant GBM-US 7 6189851 6189851 single base substitution C T downstream_gene_variant GBM-US 7 6189851 6189851 single base substitution C T exon_variant GBM-US 7 6189851 6189851 single base substitution C T missense_variant A521V 1562C>T GBM-US 7 6189851 6189851 single base substitution C T missense_variant A675V 2024C>T KIRC-US 7 6154957 6154957 single base substitution T C 3_prime_UTR_variant KIRC-US 7 6154957 6154957 single base substitution T C exon_variant KIRC-US 7 6154957 6154957 single base substitution T C intron_variant KIRC-US 7 6154957 6154957 single base substitution T C missense_variant L82P 245T>C KIRC-US 7 6154957 6154957 single base substitution T C upstream_gene_variant KIRC-US 7 6190120 6190120 single base substitution C T 3_prime_UTR_variant KIRC-US 7 6190120 6190120 single base substitution C T downstream_gene_variant KIRC-US 7 6190120 6190120 single base substitution C T exon_variant KIRC-US 7 6190120 6190120 single base substitution C T synonymous_variant G574G 1722C>T KIRC-US 7 6190120 6190120 single base substitution C T synonymous_variant G728G 2184C>T LAML-KR 7 6150699 6150699 single base substitution T G intron_variant LAML-KR 7 6169007 6169007 single base substitution C T intron_variant LAML-KR 7 6169015 6169015 single base substitution C T intron_variant LAML-KR 7 6169016 6169016 single base substitution A G intron_variant LAML-KR 7 6175312 6175312 single base substitution C A intron_variant LIAD-FR 7 6189847 6189847 single base substitution C T 3_prime_UTR_variant LIAD-FR 7 6189847 6189847 single base substitution C T downstream_gene_variant LIAD-FR 7 6189847 6189847 single base substitution C T exon_variant LIAD-FR 7 6189847 6189847 single base substitution C T synonymous_variant L520L 1558C>T LIAD-FR 7 6189847 6189847 single base substitution C T synonymous_variant L674L 2020C>T LICA-CN 7 6189547 6189547 single base substitution G T 3_prime_UTR_variant LICA-CN 7 6189547 6189547 single base substitution G T downstream_gene_variant LICA-CN 7 6189547 6189547 single base substitution G T exon_variant LICA-CN 7 6189547 6189547 single base substitution G T missense_variant V420F 1258G>T LICA-CN 7 6189547 6189547 single base substitution G T missense_variant V574F 1720G>T LICA-FR 7 6166239 6166239 single base substitution T C intron_variant LICA-FR 7 6172842 6172842 single base substitution G T intron_variant LICA-FR 7 6180986 6180986 single base substitution C G intron_variant LICA-FR 7 6183784 6183784 single base substitution C A 3_prime_UTR_variant LICA-FR 7 6183784 6183784 single base substitution C A exon_variant LICA-FR 7 6183784 6183784 single base substitution C A missense_variant S162Y 485C>A LICA-FR 7 6183784 6183784 single base substitution C A missense_variant S249Y 746C>A LICA-FR 7 6183784 6183784 single base substitution C A missense_variant S316Y 947C>A LICA-FR 7 6194746 6194746 single base substitution A T 3_prime_UTR_variant LICA-FR 7 6194746 6194746 single base substitution A T exon_variant LICA-FR 7 6194746 6194746 single base substitution A T synonymous_variant L1033L 3099A>T LICA-FR 7 6194746 6194746 single base substitution A T synonymous_variant L1187L 3561A>T LICA-FR 7 6196617 6196617 single base substitution C T 3_prime_UTR_variant LICA-FR 7 6196617 6196617 single base substitution C T downstream_gene_variant LICA-FR 7 6196617 6196617 single base substitution C T exon_variant LICA-FR 7 6196617 6196617 single base substitution C T missense_variant R1292C 3874C>T LIHC-US 7 6183734 6183734 single base substitution A T 3_prime_UTR_variant LIHC-US 7 6183734 6183734 single base substitution A T exon_variant LIHC-US 7 6183734 6183734 single base substitution A T synonymous_variant P145P 435A>T LIHC-US 7 6183734 6183734 single base substitution A T synonymous_variant P232P 696A>T LIHC-US 7 6183734 6183734 single base substitution A T synonymous_variant P299P 897A>T LIHC-US 7 6183809 6183809 single base substitution C T 3_prime_UTR_variant LIHC-US 7 6183809 6183809 single base substitution C T exon_variant LIHC-US 7 6183809 6183809 single base substitution C T synonymous_variant T170T 510C>T LIHC-US 7 6183809 6183809 single base substitution C T synonymous_variant T257T 771C>T LIHC-US 7 6183809 6183809 single base substitution C T synonymous_variant T324T 972C>T LIHC-US 7 6185161 6185161 single base substitution T A 3_prime_UTR_variant LIHC-US 7 6185161 6185161 single base substitution T A exon_variant LIHC-US 7 6185161 6185161 single base substitution T A synonymous_variant P181P 543T>A LIHC-US 7 6185161 6185161 single base substitution T A synonymous_variant P268P 804T>A LIHC-US 7 6185161 6185161 single base substitution T A synonymous_variant P335P 1005T>A LIHC-US 7 6189266 6189266 deletion of <=200bp C - 3_prime_UTR_variant LIHC-US 7 6189266 6189266 deletion of <=200bp C - downstream_gene_variant LIHC-US 7 6189266 6189266 deletion of <=200bp C - exon_variant LIHC-US 7 6189266 6189266 deletion of <=200bp C - frameshift_variant S326 LIHC-US 7 6189266 6189266 deletion of <=200bp C - frameshift_variant S413 LIHC-US 7 6189266 6189266 deletion of <=200bp C - frameshift_variant S480 LIHC-US 7 6189834 6189834 single base substitution G A 3_prime_UTR_variant LIHC-US 7 6189834 6189834 single base substitution G A downstream_gene_variant LIHC-US 7 6189834 6189834 single base substitution G A exon_variant LIHC-US 7 6189834 6189834 single base substitution G A synonymous_variant P515P 1545G>A LIHC-US 7 6189834 6189834 single base substitution G A synonymous_variant P669P 2007G>A LIHC-US 7 6194392 6194392 single base substitution C T 3_prime_UTR_variant LIHC-US 7 6194392 6194392 single base substitution C T downstream_gene_variant LIHC-US 7 6194392 6194392 single base substitution C T exon_variant LIHC-US 7 6194392 6194392 single base substitution C T synonymous_variant Y1069Y 3207C>T LIHC-US 7 6194392 6194392 single base substitution C T synonymous_variant Y915Y 2745C>T LINC-JP 7 6143202 6143202 single base substitution T C upstream_gene_variant LINC-JP 7 6150797 6150797 single base substitution A C exon_variant LINC-JP 7 6150797 6150797 single base substitution A C synonymous_variant S11S 33A>C LINC-JP 7 6150910 6150910 single base substitution A G exon_variant LINC-JP 7 6150910 6150910 single base substitution A G missense_variant N49S 146A>G LINC-JP 7 6163381 6163381 single base substitution A T intron_variant LINC-JP 7 6172635 6172635 single base substitution T A intron_variant LINC-JP 7 6175309 6175309 single base substitution G A intron_variant LINC-JP 7 6175312 6175312 single base substitution C A intron_variant LINC-JP 7 6175652 6175652 single base substitution T C intron_variant LINC-JP 7 6182372 6182372 single base substitution C G intron_variant LINC-JP 7 6183904 6183904 single base substitution A G intron_variant LINC-JP 7 6185756 6185756 single base substitution C A downstream_gene_variant LINC-JP 7 6185756 6185756 single base substitution C A intron_variant LINC-JP 7 6185791 6185791 single base substitution C G 3_prime_UTR_variant LINC-JP 7 6185791 6185791 single base substitution C G downstream_gene_variant LINC-JP 7 6185791 6185791 single base substitution C G exon_variant LINC-JP 7 6185791 6185791 single base substitution C G missense_variant L228V 682C>G LINC-JP 7 6185791 6185791 single base substitution C G missense_variant L315V 943C>G LINC-JP 7 6185791 6185791 single base substitution C G missense_variant L382V 1144C>G LINC-JP 7 6185969 6185969 deletion of <=200bp A - downstream_gene_variant LINC-JP 7 6185969 6185969 deletion of <=200bp A - intron_variant LINC-JP 7 6199219 6199219 single base substitution T G downstream_gene_variant LINC-JP 7 6199219 6199219 single base substitution T G intron_variant LINC-JP 7 6205266 6205266 insertion of <=200bp - CGG downstream_gene_variant LINC-JP 7 6205331 6205331 single base substitution T A downstream_gene_variant LIRI-JP 7 6141089 6141089 single base substitution T A upstream_gene_variant LIRI-JP 7 6141090 6141090 single base substitution A T upstream_gene_variant LIRI-JP 7 6142360 6142360 single base substitution G T upstream_gene_variant LIRI-JP 7 6146007 6146007 single base substitution G T intron_variant LIRI-JP 7 6151548 6151548 single base substitution T C 3_prime_UTR_variant LIRI-JP 7 6151548 6151548 single base substitution T C intron_variant LIRI-JP 7 6151548 6151548 single base substitution T C upstream_gene_variant LIRI-JP 7 6151551 6151551 single base substitution T C 3_prime_UTR_variant LIRI-JP 7 6151551 6151551 single base substitution T C intron_variant LIRI-JP 7 6151551 6151551 single base substitution T C upstream_gene_variant LIRI-JP 7 6153683 6153683 single base substitution T A intron_variant LIRI-JP 7 6153683 6153683 single base substitution T A upstream_gene_variant LIRI-JP 7 6158242 6158242 single base substitution G A downstream_gene_variant LIRI-JP 7 6158242 6158242 single base substitution G A intron_variant LIRI-JP 7 6161607 6161607 single base substitution C G intron_variant LIRI-JP 7 6165881 6165881 single base substitution G T intron_variant LIRI-JP 7 6166455 6166455 single base substitution A G intron_variant LIRI-JP 7 6170308 6170311 deletion of <=200bp GTGG - intron_variant LIRI-JP 7 6172811 6172811 single base substitution A G intron_variant LIRI-JP 7 6173866 6173866 single base substitution A G intron_variant LIRI-JP 7 6175971 6175971 single base substitution A G intron_variant LIRI-JP 7 6186737 6186737 single base substitution T C downstream_gene_variant LIRI-JP 7 6186737 6186737 single base substitution T C intron_variant LIRI-JP 7 6186955 6186955 single base substitution G A downstream_gene_variant LIRI-JP 7 6186955 6186955 single base substitution G A intron_variant LIRI-JP 7 6189253 6189253 single base substitution A T 3_prime_UTR_variant LIRI-JP 7 6189253 6189253 single base substitution A T downstream_gene_variant LIRI-JP 7 6189253 6189253 single base substitution A T exon_variant LIRI-JP 7 6189253 6189253 single base substitution A T missense_variant T322S 964A>T LIRI-JP 7 6189253 6189253 single base substitution A T missense_variant T409S 1225A>T LIRI-JP 7 6189253 6189253 single base substitution A T missense_variant T476S 1426A>T LIRI-JP 7 6193038 6193038 single base substitution C T downstream_gene_variant LIRI-JP 7 6193038 6193038 single base substitution C T intron_variant LIRI-JP 7 6194811 6194811 single base substitution G A 3_prime_UTR_variant LIRI-JP 7 6194811 6194811 single base substitution G A downstream_gene_variant LIRI-JP 7 6194811 6194811 single base substitution G A exon_variant LIRI-JP 7 6194811 6194811 single base substitution G A missense_variant R1209Q 3626G>A LIRI-JP 7 6197669 6197669 single base substitution G T downstream_gene_variant LIRI-JP 7 6197669 6197669 single base substitution G T intron_variant LIRI-JP 7 6200370 6200370 single base substitution C A 3_prime_UTR_variant LIRI-JP 7 6200370 6200370 single base substitution C A downstream_gene_variant LIRI-JP 7 6204065 6204065 single base substitution A G downstream_gene_variant LIRI-JP 7 6205792 6205792 single base substitution G T downstream_gene_variant LUSC-KR 7 6146605 6146605 single base substitution A G intron_variant LUSC-KR 7 6150548 6150548 single base substitution G C intron_variant LUSC-KR 7 6157848 6157848 single base substitution G A downstream_gene_variant LUSC-KR 7 6157848 6157848 single base substitution G A intron_variant LUSC-KR 7 6168148 6168148 single base substitution G C intron_variant LUSC-KR 7 6168555 6168555 single base substitution G A intron_variant LUSC-KR 7 6173561 6173561 single base substitution G T intron_variant LUSC-KR 7 6173789 6173789 single base substitution T A intron_variant LUSC-KR 7 6177403 6177403 single base substitution C T intron_variant LUSC-KR 7 6178501 6178501 single base substitution C T intron_variant LUSC-KR 7 6183836 6183836 single base substitution A G intron_variant LUSC-KR 7 6186355 6186355 single base substitution G C downstream_gene_variant LUSC-KR 7 6186355 6186355 single base substitution G C intron_variant LUSC-KR 7 6187616 6187616 single base substitution C T downstream_gene_variant LUSC-KR 7 6187616 6187616 single base substitution C T intron_variant LUSC-KR 7 6189255 6189255 single base substitution G T 3_prime_UTR_variant LUSC-KR 7 6189255 6189255 single base substitution G T downstream_gene_variant LUSC-KR 7 6189255 6189255 single base substitution G T exon_variant LUSC-KR 7 6189255 6189255 single base substitution G T synonymous_variant T322T 966G>T LUSC-KR 7 6189255 6189255 single base substitution G T synonymous_variant T409T 1227G>T LUSC-KR 7 6189255 6189255 single base substitution G T synonymous_variant T476T 1428G>T LUSC-KR 7 6189780 6189780 single base substitution T C 3_prime_UTR_variant LUSC-KR 7 6189780 6189780 single base substitution T C downstream_gene_variant LUSC-KR 7 6189780 6189780 single base substitution T C exon_variant LUSC-KR 7 6189780 6189780 single base substitution T C synonymous_variant L497L 1491T>C LUSC-KR 7 6189780 6189780 single base substitution T C synonymous_variant L651L 1953T>C LUSC-KR 7 6189843 6189843 single base substitution C T 3_prime_UTR_variant LUSC-KR 7 6189843 6189843 single base substitution C T downstream_gene_variant LUSC-KR 7 6189843 6189843 single base substitution C T exon_variant LUSC-KR 7 6189843 6189843 single base substitution C T synonymous_variant N518N 1554C>T LUSC-KR 7 6189843 6189843 single base substitution C T synonymous_variant N672N 2016C>T LUSC-KR 7 6194876 6194876 single base substitution G A downstream_gene_variant LUSC-KR 7 6194876 6194876 single base substitution G A intron_variant LUSC-KR 7 6199072 6199072 single base substitution G C downstream_gene_variant LUSC-KR 7 6199072 6199072 single base substitution G C intron_variant LUSC-KR 7 6201863 6201863 single base substitution G T downstream_gene_variant LUSC-KR 7 6201925 6201925 single base substitution A G downstream_gene_variant LUSC-KR 7 6202539 6202539 single base substitution G A downstream_gene_variant LUSC-US 7 6183809 6183809 single base substitution C T 3_prime_UTR_variant LUSC-US 7 6183809 6183809 single base substitution C T exon_variant LUSC-US 7 6183809 6183809 single base substitution C T synonymous_variant T170T 510C>T LUSC-US 7 6183809 6183809 single base substitution C T synonymous_variant T257T 771C>T LUSC-US 7 6183809 6183809 single base substitution C T synonymous_variant T324T 972C>T LUSC-US 7 6187427 6187427 single base substitution G C 3_prime_UTR_variant LUSC-US 7 6187427 6187427 single base substitution G C downstream_gene_variant LUSC-US 7 6187427 6187427 single base substitution G C exon_variant LUSC-US 7 6187427 6187427 single base substitution G C missense_variant Q276H 828G>C LUSC-US 7 6187427 6187427 single base substitution G C missense_variant Q363H 1089G>C LUSC-US 7 6187427 6187427 single base substitution G C missense_variant Q430H 1290G>C LUSC-US 7 6189570 6189570 single base substitution G A 3_prime_UTR_variant LUSC-US 7 6189570 6189570 single base substitution G A downstream_gene_variant LUSC-US 7 6189570 6189570 single base substitution G A exon_variant LUSC-US 7 6189570 6189570 single base substitution G A synonymous_variant P427P 1281G>A LUSC-US 7 6189570 6189570 single base substitution G A synonymous_variant P581P 1743G>A LUSC-US 7 6189578 6189578 single base substitution G A 3_prime_UTR_variant LUSC-US 7 6189578 6189578 single base substitution G A downstream_gene_variant LUSC-US 7 6189578 6189578 single base substitution G A exon_variant LUSC-US 7 6189578 6189578 single base substitution G A missense_variant R430H 1289G>A LUSC-US 7 6189578 6189578 single base substitution G A missense_variant R584H 1751G>A LUSC-US 7 6189676 6189676 single base substitution G A 3_prime_UTR_variant LUSC-US 7 6189676 6189676 single base substitution G A downstream_gene_variant LUSC-US 7 6189676 6189676 single base substitution G A exon_variant LUSC-US 7 6189676 6189676 single base substitution G A missense_variant E463K 1387G>A LUSC-US 7 6189676 6189676 single base substitution G A missense_variant E617K 1849G>A LUSC-US 7 6189851 6189851 single base substitution C T 3_prime_UTR_variant LUSC-US 7 6189851 6189851 single base substitution C T downstream_gene_variant LUSC-US 7 6189851 6189851 single base substitution C T exon_variant LUSC-US 7 6189851 6189851 single base substitution C T missense_variant A521V 1562C>T LUSC-US 7 6189851 6189851 single base substitution C T missense_variant A675V 2024C>T LUSC-US 7 6194338 6194338 single base substitution C T 3_prime_UTR_variant LUSC-US 7 6194338 6194338 single base substitution C T downstream_gene_variant LUSC-US 7 6194338 6194338 single base substitution C T exon_variant LUSC-US 7 6194338 6194338 single base substitution C T synonymous_variant P1051P 3153C>T LUSC-US 7 6194338 6194338 single base substitution C T synonymous_variant P897P 2691C>T MALY-DE 7 6145696 6145696 single base substitution T G intron_variant MALY-DE 7 6147011 6147011 single base substitution A T intron_variant MALY-DE 7 6148427 6148427 single base substitution A T intron_variant MALY-DE 7 6154591 6154591 single base substitution G T intron_variant MALY-DE 7 6154591 6154591 single base substitution G T upstream_gene_variant MALY-DE 7 6157662 6157662 single base substitution A G downstream_gene_variant MALY-DE 7 6157662 6157662 single base substitution A G intron_variant MALY-DE 7 6162413 6162413 single base substitution T A intron_variant MALY-DE 7 6162604 6162604 single base substitution G A intron_variant MALY-DE 7 6165151 6165151 single base substitution C T intron_variant MALY-DE 7 6182287 6182287 single base substitution G A intron_variant MALY-DE 7 6185734 6185734 single base substitution T C downstream_gene_variant MALY-DE 7 6185734 6185734 single base substitution T C intron_variant MALY-DE 7 6187128 6187128 single base substitution C G downstream_gene_variant MALY-DE 7 6187128 6187128 single base substitution C G intron_variant MELA-AU 7 6139754 6139754 single base substitution G A upstream_gene_variant MELA-AU 7 6139784 6139784 single base substitution C T upstream_gene_variant MELA-AU 7 6139990 6139990 single base substitution C T upstream_gene_variant MELA-AU 7 6140122 6140122 single base substitution G A upstream_gene_variant MELA-AU 7 6140243 6140243 single base substitution G A upstream_gene_variant MELA-AU 7 6140569 6140569 single base substitution G A upstream_gene_variant MELA-AU 7 6141352 6141352 single base substitution C T upstream_gene_variant MELA-AU 7 6142245 6142245 single base substitution G A upstream_gene_variant MELA-AU 7 6142391 6142391 single base substitution G A upstream_gene_variant MELA-AU 7 6142425 6142425 single base substitution G A upstream_gene_variant MELA-AU 7 6143756 6143756 single base substitution A G upstream_gene_variant MELA-AU 7 6143958 6143958 single base substitution C T upstream_gene_variant MELA-AU 7 6144063 6144063 single base substitution G A upstream_gene_variant MELA-AU 7 6144136 6144136 single base substitution G A upstream_gene_variant MELA-AU 7 6144280 6144280 single base substitution G A upstream_gene_variant MELA-AU 7 6144280 6144281 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 7 6144281 6144281 single base substitution G A upstream_gene_variant MELA-AU 7 6147043 6147043 single base substitution T A intron_variant MELA-AU 7 6147460 6147460 single base substitution C T intron_variant MELA-AU 7 6147872 6147872 single base substitution T A intron_variant MELA-AU 7 6148203 6148203 single base substitution C T intron_variant MELA-AU 7 6148205 6148206 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 6148291 6148291 single base substitution C T intron_variant MELA-AU 7 6148916 6148916 single base substitution G A intron_variant MELA-AU 7 6149156 6149156 single base substitution C T intron_variant MELA-AU 7 6149224 6149224 single base substitution C T intron_variant MELA-AU 7 6149645 6149645 single base substitution C T intron_variant MELA-AU 7 6150220 6150220 single base substitution C T intron_variant MELA-AU 7 6150441 6150441 single base substitution G A intron_variant MELA-AU 7 6150457 6150457 single base substitution T A intron_variant MELA-AU 7 6150525 6150525 single base substitution T G intron_variant MELA-AU 7 6152173 6152174 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 6152173 6152174 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 6152477 6152477 single base substitution C T intron_variant MELA-AU 7 6152477 6152477 single base substitution C T upstream_gene_variant MELA-AU 7 6152517 6152517 single base substitution C T intron_variant MELA-AU 7 6152517 6152517 single base substitution C T upstream_gene_variant MELA-AU 7 6152576 6152576 single base substitution C T intron_variant MELA-AU 7 6152576 6152576 single base substitution C T upstream_gene_variant MELA-AU 7 6152600 6152600 single base substitution T C intron_variant MELA-AU 7 6152600 6152600 single base substitution T C upstream_gene_variant MELA-AU 7 6152644 6152644 single base substitution C T intron_variant MELA-AU 7 6152644 6152644 single base substitution C T upstream_gene_variant MELA-AU 7 6153351 6153351 single base substitution C T intron_variant MELA-AU 7 6153351 6153351 single base substitution C T upstream_gene_variant MELA-AU 7 6153670 6153670 single base substitution C T intron_variant MELA-AU 7 6153670 6153670 single base substitution C T upstream_gene_variant MELA-AU 7 6153671 6153671 single base substitution C T intron_variant MELA-AU 7 6153671 6153671 single base substitution C T upstream_gene_variant MELA-AU 7 6153677 6153677 single base substitution C T intron_variant MELA-AU 7 6153677 6153677 single base substitution C T upstream_gene_variant MELA-AU 7 6154231 6154231 single base substitution A G intron_variant MELA-AU 7 6154231 6154231 single base substitution A G upstream_gene_variant MELA-AU 7 6154578 6154578 single base substitution C T intron_variant MELA-AU 7 6154578 6154578 single base substitution C T upstream_gene_variant MELA-AU 7 6154741 6154741 single base substitution C T intron_variant MELA-AU 7 6154741 6154741 single base substitution C T upstream_gene_variant MELA-AU 7 6155164 6155164 single base substitution C T downstream_gene_variant MELA-AU 7 6155164 6155164 single base substitution C T intron_variant MELA-AU 7 6155164 6155164 single base substitution C T upstream_gene_variant MELA-AU 7 6155916 6155916 single base substitution C T downstream_gene_variant MELA-AU 7 6155916 6155916 single base substitution C T intron_variant MELA-AU 7 6155916 6155916 single base substitution C T upstream_gene_variant MELA-AU 7 6156629 6156629 single base substitution C T downstream_gene_variant MELA-AU 7 6156629 6156629 single base substitution C T intron_variant MELA-AU 7 6157307 6157307 single base substitution C T downstream_gene_variant MELA-AU 7 6157307 6157307 single base substitution C T intron_variant MELA-AU 7 6157518 6157518 single base substitution A G downstream_gene_variant MELA-AU 7 6157518 6157518 single base substitution A G intron_variant MELA-AU 7 6157690 6157690 single base substitution C T downstream_gene_variant MELA-AU 7 6157690 6157690 single base substitution C T intron_variant MELA-AU 7 6157975 6157975 deletion of <=200bp A - downstream_gene_variant MELA-AU 7 6157975 6157975 deletion of <=200bp A - intron_variant MELA-AU 7 6158155 6158155 single base substitution A G downstream_gene_variant MELA-AU 7 6158155 6158155 single base substitution A G intron_variant MELA-AU 7 6158215 6158215 single base substitution C T downstream_gene_variant MELA-AU 7 6158215 6158215 single base substitution C T intron_variant MELA-AU 7 6158276 6158276 single base substitution T A downstream_gene_variant MELA-AU 7 6158276 6158276 single base substitution T A intron_variant MELA-AU 7 6158322 6158322 single base substitution T A downstream_gene_variant MELA-AU 7 6158322 6158322 single base substitution T A intron_variant MELA-AU 7 6158413 6158413 single base substitution C T downstream_gene_variant MELA-AU 7 6158413 6158413 single base substitution C T intron_variant MELA-AU 7 6158741 6158741 single base substitution G A downstream_gene_variant MELA-AU 7 6158741 6158741 single base substitution G A intron_variant MELA-AU 7 6158888 6158888 single base substitution C A downstream_gene_variant MELA-AU 7 6158888 6158888 single base substitution C A intron_variant MELA-AU 7 6158971 6158971 single base substitution G A downstream_gene_variant MELA-AU 7 6158971 6158971 single base substitution G A intron_variant MELA-AU 7 6159241 6159241 single base substitution C T downstream_gene_variant MELA-AU 7 6159241 6159241 single base substitution C T intron_variant MELA-AU 7 6159727 6159727 single base substitution T C downstream_gene_variant MELA-AU 7 6159727 6159727 single base substitution T C intron_variant MELA-AU 7 6159888 6159888 single base substitution C T downstream_gene_variant MELA-AU 7 6159888 6159888 single base substitution C T intron_variant MELA-AU 7 6160313 6160313 single base substitution C T intron_variant MELA-AU 7 6160346 6160346 single base substitution C T intron_variant MELA-AU 7 6160378 6160378 single base substitution C T intron_variant MELA-AU 7 6160917 6160917 single base substitution G A intron_variant MELA-AU 7 6161549 6161549 single base substitution C T intron_variant MELA-AU 7 6161746 6161746 single base substitution C T intron_variant MELA-AU 7 6161856 6161856 single base substitution C T intron_variant MELA-AU 7 6162299 6162299 single base substitution A G intron_variant MELA-AU 7 6162577 6162577 single base substitution C T intron_variant MELA-AU 7 6162652 6162652 single base substitution C T intron_variant MELA-AU 7 6162711 6162712 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 6162811 6162811 single base substitution C T intron_variant MELA-AU 7 6163248 6163248 single base substitution C T intron_variant MELA-AU 7 6164392 6164392 single base substitution C T intron_variant MELA-AU 7 6165192 6165192 single base substitution C T intron_variant MELA-AU 7 6165232 6165232 single base substitution T A intron_variant MELA-AU 7 6165414 6165414 single base substitution G A intron_variant MELA-AU 7 6165837 6165837 single base substitution C T intron_variant MELA-AU 7 6165958 6165958 single base substitution C T intron_variant MELA-AU 7 6166363 6166363 single base substitution C T intron_variant MELA-AU 7 6166496 6166496 single base substitution C T intron_variant MELA-AU 7 6166861 6166861 single base substitution C T intron_variant MELA-AU 7 6167687 6167687 single base substitution C T intron_variant MELA-AU 7 6167728 6167728 single base substitution C T intron_variant MELA-AU 7 6168068 6168068 single base substitution C T intron_variant MELA-AU 7 6168346 6168346 single base substitution C A intron_variant MELA-AU 7 6168386 6168386 single base substitution G A intron_variant MELA-AU 7 6168456 6168456 single base substitution T C intron_variant MELA-AU 7 6168852 6168852 single base substitution C T intron_variant MELA-AU 7 6169570 6169570 single base substitution C A intron_variant MELA-AU 7 6169952 6169952 single base substitution C T intron_variant MELA-AU 7 6171366 6171366 single base substitution C T intron_variant MELA-AU 7 6171408 6171408 single base substitution C T intron_variant MELA-AU 7 6171868 6171868 single base substitution T A intron_variant MELA-AU 7 6171900 6171900 single base substitution C T intron_variant MELA-AU 7 6173738 6173738 single base substitution C T intron_variant MELA-AU 7 6174808 6174809 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 7 6174893 6174893 single base substitution C T intron_variant MELA-AU 7 6175028 6175028 single base substitution C T intron_variant MELA-AU 7 6175833 6175833 single base substitution C T intron_variant MELA-AU 7 6176038 6176038 single base substitution A G intron_variant MELA-AU 7 6177360 6177360 single base substitution G A intron_variant MELA-AU 7 6178149 6178149 single base substitution A G intron_variant MELA-AU 7 6178310 6178310 single base substitution C T intron_variant MELA-AU 7 6181123 6181123 single base substitution G A intron_variant MELA-AU 7 6181297 6181297 single base substitution C G intron_variant MELA-AU 7 6181473 6181473 single base substitution C T intron_variant MELA-AU 7 6181824 6181824 single base substitution T C intron_variant MELA-AU 7 6182530 6182530 single base substitution G A intron_variant MELA-AU 7 6182859 6182859 single base substitution G A intron_variant MELA-AU 7 6183048 6183048 single base substitution T A intron_variant MELA-AU 7 6183282 6183282 single base substitution C T intron_variant MELA-AU 7 6183415 6183415 single base substitution C T intron_variant MELA-AU 7 6183911 6183911 single base substitution C T intron_variant MELA-AU 7 6185202 6185202 single base substitution G A 3_prime_UTR_variant MELA-AU 7 6185202 6185202 single base substitution G A exon_variant MELA-AU 7 6185202 6185202 single base substitution G A missense_variant G195E 584G>A MELA-AU 7 6185202 6185202 single base substitution G A missense_variant G282E 845G>A MELA-AU 7 6185202 6185202 single base substitution G A missense_variant G349E 1046G>A MELA-AU 7 6186187 6186187 single base substitution C A downstream_gene_variant MELA-AU 7 6186187 6186187 single base substitution C A intron_variant MELA-AU 7 6186500 6186500 single base substitution G A downstream_gene_variant MELA-AU 7 6186500 6186500 single base substitution G A intron_variant MELA-AU 7 6186533 6186533 single base substitution G A downstream_gene_variant MELA-AU 7 6186533 6186533 single base substitution G A intron_variant MELA-AU 7 6186578 6186578 single base substitution C G downstream_gene_variant MELA-AU 7 6186578 6186578 single base substitution C G intron_variant MELA-AU 7 6186922 6186922 single base substitution C T downstream_gene_variant MELA-AU 7 6186922 6186922 single base substitution C T intron_variant MELA-AU 7 6187218 6187218 single base substitution G C downstream_gene_variant MELA-AU 7 6187218 6187218 single base substitution G C intron_variant MELA-AU 7 6187997 6187997 single base substitution C T downstream_gene_variant MELA-AU 7 6187997 6187997 single base substitution C T intron_variant MELA-AU 7 6188079 6188079 single base substitution G A downstream_gene_variant MELA-AU 7 6188079 6188079 single base substitution G A intron_variant MELA-AU 7 6188557 6188557 single base substitution G A downstream_gene_variant MELA-AU 7 6188557 6188557 single base substitution G A intron_variant MELA-AU 7 6188821 6188821 single base substitution C T downstream_gene_variant MELA-AU 7 6188821 6188821 single base substitution C T intron_variant MELA-AU 7 6189188 6189189 multiple base substitution (>=2bp and <=200bp) AC TA downstream_gene_variant MELA-AU 7 6189188 6189189 multiple base substitution (>=2bp and <=200bp) AC TA intron_variant MELA-AU 7 6189258 6189258 single base substitution A G 3_prime_UTR_variant MELA-AU 7 6189258 6189258 single base substitution A G downstream_gene_variant MELA-AU 7 6189258 6189258 single base substitution A G exon_variant MELA-AU 7 6189258 6189258 single base substitution A G synonymous_variant P323P 969A>G MELA-AU 7 6189258 6189258 single base substitution A G synonymous_variant P410P 1230A>G MELA-AU 7 6189258 6189258 single base substitution A G synonymous_variant P477P 1431A>G MELA-AU 7 6189281 6189282 multiple base substitution (>=2bp and <=200bp) AC GT 3_prime_UTR_variant MELA-AU 7 6189281 6189282 multiple base substitution (>=2bp and <=200bp) AC GT downstream_gene_variant MELA-AU 7 6189281 6189282 multiple base substitution (>=2bp and <=200bp) AC GT exon_variant MELA-AU 7 6189281 6189282 multiple base substitution (>=2bp and <=200bp) AC GT missense_variant N331S 992AC>GT MELA-AU 7 6189281 6189282 multiple base substitution (>=2bp and <=200bp) AC GT missense_variant N418S 1253AC>GT MELA-AU 7 6189281 6189282 multiple base substitution (>=2bp and <=200bp) AC GT missense_variant N485S 1454AC>GT MELA-AU 7 6190256 6190256 single base substitution A C downstream_gene_variant MELA-AU 7 6190256 6190256 single base substitution A C intron_variant MELA-AU 7 6190618 6190618 single base substitution G A downstream_gene_variant MELA-AU 7 6190618 6190618 single base substitution G A intron_variant MELA-AU 7 6192275 6192275 single base substitution G A downstream_gene_variant MELA-AU 7 6192275 6192275 single base substitution G A intron_variant MELA-AU 7 6192367 6192367 single base substitution G A downstream_gene_variant MELA-AU 7 6192367 6192367 single base substitution G A intron_variant MELA-AU 7 6192526 6192526 single base substitution C T downstream_gene_variant MELA-AU 7 6192526 6192526 single base substitution C T intron_variant MELA-AU 7 6193705 6193706 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 7 6193705 6193706 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 6193705 6193706 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 7 6193705 6193706 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant AE686AK MELA-AU 7 6193705 6193706 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant AE840AK MELA-AU 7 6193727 6193727 single base substitution T C 3_prime_UTR_variant MELA-AU 7 6193727 6193727 single base substitution T C downstream_gene_variant MELA-AU 7 6193727 6193727 single base substitution T C exon_variant MELA-AU 7 6193727 6193727 single base substitution T C synonymous_variant L694L 2080T>C MELA-AU 7 6193727 6193727 single base substitution T C synonymous_variant L848L 2542T>C MELA-AU 7 6194005 6194005 single base substitution G A 3_prime_UTR_variant MELA-AU 7 6194005 6194005 single base substitution G A downstream_gene_variant MELA-AU 7 6194005 6194005 single base substitution G A exon_variant MELA-AU 7 6194005 6194005 single base substitution G A synonymous_variant E786E 2358G>A MELA-AU 7 6194005 6194005 single base substitution G A synonymous_variant E940E 2820G>A MELA-AU 7 6194624 6194624 single base substitution C T 3_prime_UTR_variant MELA-AU 7 6194624 6194624 single base substitution C T exon_variant MELA-AU 7 6194624 6194624 single base substitution C T missense_variant L1147F 3439C>T MELA-AU 7 6194624 6194624 single base substitution C T missense_variant L993F 2977C>T MELA-AU 7 6195083 6195083 single base substitution T G downstream_gene_variant MELA-AU 7 6195083 6195083 single base substitution T G intron_variant MELA-AU 7 6195154 6195154 single base substitution G A downstream_gene_variant MELA-AU 7 6195154 6195154 single base substitution G A intron_variant MELA-AU 7 6195617 6195617 single base substitution G A downstream_gene_variant MELA-AU 7 6195617 6195617 single base substitution G A intron_variant MELA-AU 7 6198046 6198047 multiple base substitution (>=2bp and <=200bp) TG GT downstream_gene_variant MELA-AU 7 6198046 6198047 multiple base substitution (>=2bp and <=200bp) TG GT intron_variant MELA-AU 7 6199231 6199231 single base substitution A G downstream_gene_variant MELA-AU 7 6199231 6199231 single base substitution A G intron_variant MELA-AU 7 6199433 6199433 single base substitution C T downstream_gene_variant MELA-AU 7 6199433 6199433 single base substitution C T intron_variant MELA-AU 7 6199493 6199493 single base substitution C T downstream_gene_variant MELA-AU 7 6199493 6199493 single base substitution C T intron_variant MELA-AU 7 6202609 6202609 single base substitution T C downstream_gene_variant MELA-AU 7 6203020 6203020 single base substitution G A downstream_gene_variant MELA-AU 7 6203533 6203533 single base substitution C T downstream_gene_variant MELA-AU 7 6203582 6203582 single base substitution T A downstream_gene_variant MELA-AU 7 6203802 6203803 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 7 6205085 6205085 single base substitution G A downstream_gene_variant MELA-AU 7 6205099 6205100 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 7 6205290 6205290 single base substitution A T downstream_gene_variant ORCA-IN 7 6143896 6143896 single base substitution G C upstream_gene_variant ORCA-IN 7 6149868 6149868 single base substitution C T intron_variant ORCA-IN 7 6150972 6150972 single base substitution G A exon_variant ORCA-IN 7 6150972 6150972 single base substitution G A missense_variant D70N 208G>A ORCA-IN 7 6183692 6183692 single base substitution A G intron_variant ORCA-IN 7 6194217 6194217 single base substitution G T 3_prime_UTR_variant ORCA-IN 7 6194217 6194217 single base substitution G T downstream_gene_variant ORCA-IN 7 6194217 6194217 single base substitution G T exon_variant ORCA-IN 7 6194217 6194217 single base substitution G T missense_variant R1011L 3032G>T ORCA-IN 7 6194217 6194217 single base substitution G T missense_variant R857L 2570G>T ORCA-IN 7 6198979 6198979 single base substitution C T downstream_gene_variant ORCA-IN 7 6198979 6198979 single base substitution C T intron_variant OV-AU 7 6141391 6141391 single base substitution C G upstream_gene_variant OV-AU 7 6144739 6144739 single base substitution G A intron_variant OV-AU 7 6150592 6150592 single base substitution G T intron_variant OV-AU 7 6154488 6154488 single base substitution A C intron_variant OV-AU 7 6154488 6154488 single base substitution A C upstream_gene_variant OV-AU 7 6169701 6169701 single base substitution C T intron_variant OV-AU 7 6174273 6174273 single base substitution A T intron_variant OV-AU 7 6182328 6182328 single base substitution A T intron_variant OV-AU 7 6187218 6187218 single base substitution G A downstream_gene_variant OV-AU 7 6187218 6187218 single base substitution G A intron_variant OV-AU 7 6189822 6189822 single base substitution C G 3_prime_UTR_variant OV-AU 7 6189822 6189822 single base substitution C G downstream_gene_variant OV-AU 7 6189822 6189822 single base substitution C G exon_variant OV-AU 7 6189822 6189822 single base substitution C G missense_variant S511R 1533C>G OV-AU 7 6189822 6189822 single base substitution C G missense_variant S665R 1995C>G OV-AU 7 6190028 6190028 single base substitution T C downstream_gene_variant OV-AU 7 6190028 6190028 single base substitution T C intron_variant OV-AU 7 6192089 6192089 single base substitution G A downstream_gene_variant OV-AU 7 6192089 6192089 single base substitution G A intron_variant PACA-AU 7 6148740 6148740 single base substitution G A intron_variant PACA-AU 7 6159628 6159628 single base substitution G A downstream_gene_variant PACA-AU 7 6159628 6159628 single base substitution G A intron_variant PACA-AU 7 6160202 6160202 single base substitution A G intron_variant PACA-AU 7 6167602 6167602 single base substitution T G intron_variant PACA-AU 7 6167746 6167746 deletion of <=200bp T - intron_variant PACA-AU 7 6168723 6168723 single base substitution G A intron_variant PACA-AU 7 6170826 6170826 single base substitution G A intron_variant PACA-AU 7 6172505 6172505 single base substitution G A intron_variant PACA-AU 7 6175579 6175579 single base substitution C T 3_prime_UTR_variant PACA-AU 7 6175579 6175579 single base substitution C T exon_variant PACA-AU 7 6175579 6175579 single base substitution C T missense_variant R117W 349C>T PACA-AU 7 6175579 6175579 single base substitution C T missense_variant R184W 550C>T PACA-AU 7 6175579 6175579 single base substitution C T missense_variant R30W 88C>T PACA-AU 7 6181627 6181627 single base substitution G T intron_variant PACA-AU 7 6184440 6184440 single base substitution G A intron_variant PACA-AU 7 6186652 6186652 single base substitution G A downstream_gene_variant PACA-AU 7 6186652 6186652 single base substitution G A intron_variant PACA-AU 7 6192936 6192936 single base substitution A C downstream_gene_variant PACA-AU 7 6192936 6192936 single base substitution A C intron_variant PACA-AU 7 6193868 6193868 single base substitution G T 3_prime_UTR_variant PACA-AU 7 6193868 6193868 single base substitution G T downstream_gene_variant PACA-AU 7 6193868 6193868 single base substitution G T exon_variant PACA-AU 7 6193868 6193868 single base substitution G T missense_variant A741S 2221G>T PACA-AU 7 6193868 6193868 single base substitution G T missense_variant A895S 2683G>T PACA-AU 7 6195343 6195343 single base substitution T C downstream_gene_variant PACA-AU 7 6195343 6195343 single base substitution T C intron_variant PACA-AU 7 6204901 6204901 single base substitution C T downstream_gene_variant PACA-AU 7 6205172 6205172 single base substitution T C downstream_gene_variant PACA-AU 7 6206133 6206133 single base substitution G A downstream_gene_variant PACA-CA 7 6140180 6140180 single base substitution C T upstream_gene_variant PACA-CA 7 6140881 6140881 single base substitution T G upstream_gene_variant PACA-CA 7 6143344 6143344 single base substitution C A upstream_gene_variant PACA-CA 7 6148245 6148245 single base substitution G A intron_variant PACA-CA 7 6149945 6149945 single base substitution C T intron_variant PACA-CA 7 6150166 6150166 single base substitution T C intron_variant PACA-CA 7 6152026 6152026 single base substitution G A intron_variant PACA-CA 7 6152026 6152026 single base substitution G A upstream_gene_variant PACA-CA 7 6152046 6152046 single base substitution A G intron_variant PACA-CA 7 6152046 6152046 single base substitution A G upstream_gene_variant PACA-CA 7 6154632 6154632 deletion of <=200bp T - intron_variant PACA-CA 7 6154632 6154632 deletion of <=200bp T - upstream_gene_variant PACA-CA 7 6158947 6158947 insertion of <=200bp - A downstream_gene_variant PACA-CA 7 6158947 6158947 insertion of <=200bp - A intron_variant PACA-CA 7 6159057 6159057 single base substitution G A downstream_gene_variant PACA-CA 7 6159057 6159057 single base substitution G A intron_variant PACA-CA 7 6159325 6159325 single base substitution G T downstream_gene_variant PACA-CA 7 6159325 6159325 single base substitution G T intron_variant PACA-CA 7 6170097 6170097 single base substitution T C intron_variant PACA-CA 7 6172780 6172781 deletion of <=200bp TT - intron_variant PACA-CA 7 6173126 6173126 single base substitution C T intron_variant PACA-CA 7 6173948 6173948 single base substitution T C intron_variant PACA-CA 7 6174619 6174619 single base substitution C T intron_variant PACA-CA 7 6182573 6182573 single base substitution G A 3_prime_UTR_variant PACA-CA 7 6182573 6182573 single base substitution G A exon_variant PACA-CA 7 6182573 6182573 single base substitution G A missense_variant S115N 344G>A PACA-CA 7 6182573 6182573 single base substitution G A missense_variant S202N 605G>A PACA-CA 7 6182573 6182573 single base substitution G A missense_variant S269N 806G>A PACA-CA 7 6185786 6185786 single base substitution A G 3_prime_UTR_variant PACA-CA 7 6185786 6185786 single base substitution A G downstream_gene_variant PACA-CA 7 6185786 6185786 single base substitution A G exon_variant PACA-CA 7 6185786 6185786 single base substitution A G missense_variant N226S 677A>G PACA-CA 7 6185786 6185786 single base substitution A G missense_variant N313S 938A>G PACA-CA 7 6185786 6185786 single base substitution A G missense_variant N380S 1139A>G PACA-CA 7 6188835 6188835 single base substitution C T downstream_gene_variant PACA-CA 7 6188835 6188835 single base substitution C T intron_variant PACA-CA 7 6189639 6189639 single base substitution G A 3_prime_UTR_variant PACA-CA 7 6189639 6189639 single base substitution G A downstream_gene_variant PACA-CA 7 6189639 6189639 single base substitution G A exon_variant PACA-CA 7 6189639 6189639 single base substitution G A synonymous_variant L450L 1350G>A PACA-CA 7 6189639 6189639 single base substitution G A synonymous_variant L604L 1812G>A PACA-CA 7 6189970 6189970 insertion of <=200bp - G downstream_gene_variant PACA-CA 7 6189970 6189970 insertion of <=200bp - G intron_variant PACA-CA 7 6193362 6193362 single base substitution G A downstream_gene_variant PACA-CA 7 6193362 6193362 single base substitution G A intron_variant PACA-CA 7 6193597 6193597 single base substitution C T 3_prime_UTR_variant PACA-CA 7 6193597 6193597 single base substitution C T downstream_gene_variant PACA-CA 7 6193597 6193597 single base substitution C T exon_variant PACA-CA 7 6193597 6193597 single base substitution C T synonymous_variant S650S 1950C>T PACA-CA 7 6193597 6193597 single base substitution C T synonymous_variant S804S 2412C>T PACA-CA 7 6194816 6194816 single base substitution C T 3_prime_UTR_variant PACA-CA 7 6194816 6194816 single base substitution C T downstream_gene_variant PACA-CA 7 6194816 6194816 single base substitution C T exon_variant PACA-CA 7 6194816 6194816 single base substitution C T missense_variant R1211C 3631C>T PACA-CA 7 6197786 6197786 single base substitution G A downstream_gene_variant PACA-CA 7 6197786 6197786 single base substitution G A intron_variant PACA-CA 7 6199114 6199114 single base substitution C A 3_prime_UTR_variant PACA-CA 7 6199114 6199114 single base substitution C A downstream_gene_variant PACA-CA 7 6202602 6202602 single base substitution G C downstream_gene_variant PAEN-AU 7 6179893 6179893 single base substitution C T intron_variant PAEN-AU 7 6202037 6202037 single base substitution T A downstream_gene_variant PAEN-IT 7 6167392 6167392 single base substitution C T intron_variant PAEN-IT 7 6173393 6173393 single base substitution C T intron_variant PAEN-IT 7 6189179 6189179 single base substitution G A downstream_gene_variant PAEN-IT 7 6189179 6189179 single base substitution G A intron_variant PBCA-DE 7 6151498 6151498 single base substitution C T 3_prime_UTR_variant PBCA-DE 7 6151498 6151498 single base substitution C T intron_variant PBCA-DE 7 6151498 6151498 single base substitution C T upstream_gene_variant PBCA-DE 7 6160405 6160405 single base substitution G A intron_variant PBCA-DE 7 6183416 6183416 single base substitution A G intron_variant PBCA-DE 7 6185735 6185735 single base substitution T G downstream_gene_variant PBCA-DE 7 6185735 6185735 single base substitution T G intron_variant PBCA-DE 7 6191236 6191236 deletion of <=200bp T - downstream_gene_variant PBCA-DE 7 6191236 6191236 deletion of <=200bp T - intron_variant PBCA-DE 7 6192928 6192928 single base substitution C A downstream_gene_variant PBCA-DE 7 6192928 6192928 single base substitution C A intron_variant PBCA-DE 7 6202277 6202277 single base substitution T G downstream_gene_variant PRAD-CA 7 6151690 6151690 single base substitution G C intron_variant PRAD-CA 7 6151690 6151690 single base substitution G C upstream_gene_variant PRAD-CA 7 6166824 6166824 single base substitution C T intron_variant PRAD-CA 7 6172598 6172598 single base substitution G A intron_variant PRAD-CA 7 6177425 6177425 single base substitution C T intron_variant PRAD-CA 7 6179626 6179626 single base substitution A G 3_prime_UTR_variant PRAD-CA 7 6179626 6179626 single base substitution A G intron_variant PRAD-CA 7 6204677 6204677 single base substitution G A downstream_gene_variant PRAD-UK 7 6157111 6157111 single base substitution C G downstream_gene_variant PRAD-UK 7 6157111 6157111 single base substitution C G intron_variant PRAD-UK 7 6158958 6158958 single base substitution C A downstream_gene_variant PRAD-UK 7 6158958 6158958 single base substitution C A intron_variant PRAD-UK 7 6159519 6159519 single base substitution G C downstream_gene_variant PRAD-UK 7 6159519 6159519 single base substitution G C intron_variant PRAD-UK 7 6164416 6164458 deletion of <=200bp TGATTTTATTTAATCTGCTTCATTGGCATATTTTTGATATTTT - intron_variant PRAD-UK 7 6183338 6183340 deletion of <=200bp ATT - intron_variant PRAD-UK 7 6189640 6189640 single base substitution G T 3_prime_UTR_variant PRAD-UK 7 6189640 6189640 single base substitution G T downstream_gene_variant PRAD-UK 7 6189640 6189640 single base substitution G T exon_variant PRAD-UK 7 6189640 6189640 single base substitution G T missense_variant V451L 1351G>T PRAD-UK 7 6189640 6189640 single base substitution G T missense_variant V605L 1813G>T PRAD-UK 7 6193664 6193664 single base substitution G A 3_prime_UTR_variant PRAD-UK 7 6193664 6193664 single base substitution G A downstream_gene_variant PRAD-UK 7 6193664 6193664 single base substitution G A exon_variant PRAD-UK 7 6193664 6193664 single base substitution G A missense_variant D673N 2017G>A PRAD-UK 7 6193664 6193664 single base substitution G A missense_variant D827N 2479G>A PRAD-UK 7 6193823 6193823 single base substitution G A 3_prime_UTR_variant PRAD-UK 7 6193823 6193823 single base substitution G A downstream_gene_variant PRAD-UK 7 6193823 6193823 single base substitution G A exon_variant PRAD-UK 7 6193823 6193823 single base substitution G A missense_variant A726T 2176G>A PRAD-UK 7 6193823 6193823 single base substitution G A missense_variant A880T 2638G>A PRAD-UK 7 6194708 6194708 single base substitution G A 3_prime_UTR_variant PRAD-UK 7 6194708 6194708 single base substitution G A exon_variant PRAD-UK 7 6194708 6194708 single base substitution G A missense_variant E1021K 3061G>A PRAD-UK 7 6194708 6194708 single base substitution G A missense_variant E1175K 3523G>A PRAD-UK 7 6201721 6201721 single base substitution T C downstream_gene_variant PRAD-US 7 6193761 6193761 single base substitution C T 3_prime_UTR_variant PRAD-US 7 6193761 6193761 single base substitution C T downstream_gene_variant PRAD-US 7 6193761 6193761 single base substitution C T exon_variant PRAD-US 7 6193761 6193761 single base substitution C T missense_variant P705L 2114C>T PRAD-US 7 6193761 6193761 single base substitution C T missense_variant P859L 2576C>T PRAD-US 7 6204578 6204578 deletion of <=200bp T - downstream_gene_variant READ-US 7 6189483 6189483 single base substitution C T 3_prime_UTR_variant READ-US 7 6189483 6189483 single base substitution C T downstream_gene_variant READ-US 7 6189483 6189483 single base substitution C T exon_variant READ-US 7 6189483 6189483 single base substitution C T synonymous_variant P398P 1194C>T READ-US 7 6189483 6189483 single base substitution C T synonymous_variant P552P 1656C>T READ-US 7 6189775 6189775 single base substitution G A 3_prime_UTR_variant READ-US 7 6189775 6189775 single base substitution G A downstream_gene_variant READ-US 7 6189775 6189775 single base substitution G A exon_variant READ-US 7 6189775 6189775 single base substitution G A missense_variant E496K 1486G>A READ-US 7 6189775 6189775 single base substitution G A missense_variant E650K 1948G>A READ-US 7 6193521 6193521 single base substitution G C 3_prime_UTR_variant READ-US 7 6193521 6193521 single base substitution G C downstream_gene_variant READ-US 7 6193521 6193521 single base substitution G C exon_variant READ-US 7 6193521 6193521 single base substitution G C missense_variant R625P 1874G>C READ-US 7 6193521 6193521 single base substitution G C missense_variant R779P 2336G>C RECA-EU 7 6148612 6148612 single base substitution A T intron_variant RECA-EU 7 6153206 6153206 single base substitution G C intron_variant RECA-EU 7 6153206 6153206 single base substitution G C upstream_gene_variant RECA-EU 7 6169853 6169853 single base substitution C G intron_variant RECA-EU 7 6172679 6172679 single base substitution C T intron_variant RECA-EU 7 6181734 6181734 single base substitution C G intron_variant RECA-EU 7 6203471 6203471 single base substitution A G downstream_gene_variant SKCA-BR 7 6142068 6142068 single base substitution G A upstream_gene_variant SKCA-BR 7 6144500 6144500 single base substitution C T upstream_gene_variant SKCA-BR 7 6146578 6146578 single base substitution T C intron_variant SKCA-BR 7 6150576 6150576 single base substitution C T intron_variant SKCA-BR 7 6151400 6151400 insertion of <=200bp - ATT intron_variant SKCA-BR 7 6151400 6151400 insertion of <=200bp - ATT upstream_gene_variant SKCA-BR 7 6151745 6151745 single base substitution C T intron_variant SKCA-BR 7 6151745 6151745 single base substitution C T upstream_gene_variant SKCA-BR 7 6152003 6152003 single base substitution C T intron_variant SKCA-BR 7 6152003 6152003 single base substitution C T upstream_gene_variant SKCA-BR 7 6152160 6152160 single base substitution C T intron_variant SKCA-BR 7 6152160 6152160 single base substitution C T upstream_gene_variant SKCA-BR 7 6152530 6152531 deletion of <=200bp TC - intron_variant SKCA-BR 7 6152530 6152531 deletion of <=200bp TC - upstream_gene_variant SKCA-BR 7 6153283 6153283 single base substitution C T intron_variant SKCA-BR 7 6153283 6153283 single base substitution C T upstream_gene_variant SKCA-BR 7 6153818 6153818 single base substitution A C intron_variant SKCA-BR 7 6153818 6153818 single base substitution A C upstream_gene_variant SKCA-BR 7 6154305 6154319 deletion of <=200bp ATATATTTTTTTTTT - intron_variant SKCA-BR 7 6154305 6154319 deletion of <=200bp ATATATTTTTTTTTT - upstream_gene_variant SKCA-BR 7 6155752 6155753 deletion of <=200bp AC - downstream_gene_variant SKCA-BR 7 6155752 6155753 deletion of <=200bp AC - intron_variant SKCA-BR 7 6155752 6155753 deletion of <=200bp AC - upstream_gene_variant SKCA-BR 7 6155873 6155873 single base substitution C A downstream_gene_variant SKCA-BR 7 6155873 6155873 single base substitution C A intron_variant SKCA-BR 7 6155873 6155873 single base substitution C A upstream_gene_variant SKCA-BR 7 6160250 6160250 single base substitution C T intron_variant SKCA-BR 7 6160303 6160303 single base substitution C T intron_variant SKCA-BR 7 6161910 6161911 deletion of <=200bp GT - intron_variant SKCA-BR 7 6162509 6162509 single base substitution C T intron_variant SKCA-BR 7 6164386 6164386 single base substitution C T intron_variant SKCA-BR 7 6166993 6166993 single base substitution C G intron_variant SKCA-BR 7 6167887 6167887 insertion of <=200bp - CT intron_variant SKCA-BR 7 6174576 6174576 single base substitution C T intron_variant SKCA-BR 7 6175652 6175652 insertion of <=200bp - TC intron_variant SKCA-BR 7 6180827 6180827 single base substitution C T intron_variant SKCA-BR 7 6184500 6184500 insertion of <=200bp - CA intron_variant SKCA-BR 7 6187484 6187484 single base substitution A T 3_prime_UTR_variant SKCA-BR 7 6187484 6187484 single base substitution A T downstream_gene_variant SKCA-BR 7 6187484 6187484 single base substitution A T exon_variant SKCA-BR 7 6187484 6187484 single base substitution A T synonymous_variant P295P 885A>T SKCA-BR 7 6187484 6187484 single base substitution A T synonymous_variant P382P 1146A>T SKCA-BR 7 6187484 6187484 single base substitution A T synonymous_variant P449P 1347A>T SKCA-BR 7 6188841 6188841 single base substitution T G downstream_gene_variant SKCA-BR 7 6188841 6188841 single base substitution T G intron_variant SKCA-BR 7 6192070 6192071 deletion of <=200bp CT - downstream_gene_variant SKCA-BR 7 6192070 6192071 deletion of <=200bp CT - intron_variant SKCA-BR 7 6192073 6192073 single base substitution T G downstream_gene_variant SKCA-BR 7 6192073 6192073 single base substitution T G intron_variant SKCA-BR 7 6194186 6194186 single base substitution G A 3_prime_UTR_variant SKCA-BR 7 6194186 6194186 single base substitution G A downstream_gene_variant SKCA-BR 7 6194186 6194186 single base substitution G A exon_variant SKCA-BR 7 6194186 6194186 single base substitution G A missense_variant G1001S 3001G>A SKCA-BR 7 6194186 6194186 single base substitution G A missense_variant G847S 2539G>A SKCA-BR 7 6195027 6195027 single base substitution C T downstream_gene_variant SKCA-BR 7 6195027 6195027 single base substitution C T intron_variant SKCA-BR 7 6197018 6197018 single base substitution T C downstream_gene_variant SKCA-BR 7 6197018 6197018 single base substitution T C intron_variant SKCA-BR 7 6203151 6203152 deletion of <=200bp GC - downstream_gene_variant SKCA-BR 7 6203154 6203154 single base substitution C T downstream_gene_variant SKCA-BR 7 6203156 6203156 single base substitution C A downstream_gene_variant SKCA-BR 7 6204695 6204695 single base substitution G A downstream_gene_variant SKCA-BR 7 6205706 6205706 single base substitution G A downstream_gene_variant SKCM-US 7 6155094 6155094 single base substitution T C downstream_gene_variant SKCM-US 7 6155094 6155094 single base substitution T C exon_variant SKCM-US 7 6155094 6155094 single base substitution T C intron_variant SKCM-US 7 6155094 6155094 single base substitution T C missense_variant C128R 382T>C SKCM-US 7 6155094 6155094 single base substitution T C upstream_gene_variant SKCM-US 7 6189856 6189856 single base substitution G A 3_prime_UTR_variant SKCM-US 7 6189856 6189856 single base substitution G A downstream_gene_variant SKCM-US 7 6189856 6189856 single base substitution G A exon_variant SKCM-US 7 6189856 6189856 single base substitution G A missense_variant D523N 1567G>A SKCM-US 7 6189856 6189856 single base substitution G A missense_variant D677N 2029G>A SKCM-US 7 6189901 6189901 single base substitution C T 3_prime_UTR_variant SKCM-US 7 6189901 6189901 single base substitution C T downstream_gene_variant SKCM-US 7 6189901 6189901 single base substitution C T exon_variant SKCM-US 7 6189901 6189901 single base substitution C T missense_variant P538S 1612C>T SKCM-US 7 6189901 6189901 single base substitution C T missense_variant P692S 2074C>T SKCM-US 7 6196551 6196551 single base substitution T C 3_prime_UTR_variant SKCM-US 7 6196551 6196551 single base substitution T C downstream_gene_variant SKCM-US 7 6196551 6196551 single base substitution T C exon_variant SKCM-US 7 6196551 6196551 single base substitution T C missense_variant F1270L 3808T>C SKCM-US 7 6196598 6196598 single base substitution G A 3_prime_UTR_variant SKCM-US 7 6196598 6196598 single base substitution G A downstream_gene_variant SKCM-US 7 6196598 6196598 single base substitution G A exon_variant SKCM-US 7 6196598 6196598 single base substitution G A synonymous_variant L1285L 3855G>A SKCM-US 7 6196639 6196651 deletion of <=200bp GGATGGAAAGCAG - 3_prime_UTR_variant SKCM-US 7 6196639 6196651 deletion of <=200bp GGATGGAAAGCAG - downstream_gene_variant SKCM-US 7 6196639 6196651 deletion of <=200bp GGATGGAAAGCAG - exon_variant SKCM-US 7 6196639 6196651 deletion of <=200bp GGATGGAAAGCAG - frameshift_variant RMESR1299 SKCM-US 7 6196713 6196713 single base substitution A G downstream_gene_variant SKCM-US 7 6196713 6196713 single base substitution A G exon_variant SKCM-US 7 6196713 6196713 single base substitution A G intron_variant SKCM-US 7 6205193 6205193 single base substitution C T downstream_gene_variant SKCM-US 7 6205223 6205223 single base substitution G A downstream_gene_variant STAD-US 7 6150918 6150918 single base substitution C T exon_variant STAD-US 7 6150918 6150918 single base substitution C T missense_variant L52F 154C>T STAD-US 7 6155062 6155062 single base substitution G A downstream_gene_variant STAD-US 7 6155062 6155062 single base substitution G A exon_variant STAD-US 7 6155062 6155062 single base substitution G A intron_variant STAD-US 7 6155062 6155062 single base substitution G A missense_variant G117D 350G>A STAD-US 7 6155062 6155062 single base substitution G A upstream_gene_variant STAD-US 7 6180573 6180573 single base substitution A G 3_prime_UTR_variant STAD-US 7 6180573 6180573 single base substitution A G exon_variant STAD-US 7 6180573 6180573 single base substitution A G synonymous_variant S184S 552A>G STAD-US 7 6180573 6180573 single base substitution A G synonymous_variant S251S 753A>G STAD-US 7 6180573 6180573 single base substitution A G synonymous_variant S97S 291A>G STAD-US 7 6187480 6187480 single base substitution C T 3_prime_UTR_variant STAD-US 7 6187480 6187480 single base substitution C T downstream_gene_variant STAD-US 7 6187480 6187480 single base substitution C T exon_variant STAD-US 7 6187480 6187480 single base substitution C T missense_variant A294V 881C>T STAD-US 7 6187480 6187480 single base substitution C T missense_variant A381V 1142C>T STAD-US 7 6187480 6187480 single base substitution C T missense_variant A448V 1343C>T STAD-US 7 6187483 6187483 single base substitution C T 3_prime_UTR_variant STAD-US 7 6187483 6187483 single base substitution C T downstream_gene_variant STAD-US 7 6187483 6187483 single base substitution C T exon_variant STAD-US 7 6187483 6187483 single base substitution C T missense_variant P295L 884C>T STAD-US 7 6187483 6187483 single base substitution C T missense_variant P382L 1145C>T STAD-US 7 6187483 6187483 single base substitution C T missense_variant P449L 1346C>T STAD-US 7 6189299 6189299 single base substitution A G 3_prime_UTR_variant STAD-US 7 6189299 6189299 single base substitution A G downstream_gene_variant STAD-US 7 6189299 6189299 single base substitution A G exon_variant STAD-US 7 6189299 6189299 single base substitution A G missense_variant N337S 1010A>G STAD-US 7 6189299 6189299 single base substitution A G missense_variant N424S 1271A>G STAD-US 7 6189299 6189299 single base substitution A G missense_variant N491S 1472A>G STAD-US 7 6189448 6189448 single base substitution C A 3_prime_UTR_variant STAD-US 7 6189448 6189448 single base substitution C A downstream_gene_variant STAD-US 7 6189448 6189448 single base substitution C A exon_variant STAD-US 7 6189448 6189448 single base substitution C A missense_variant L387I 1159C>A STAD-US 7 6189448 6189448 single base substitution C A missense_variant L474I 1420C>A STAD-US 7 6189448 6189448 single base substitution C A missense_variant L541I 1621C>A STAD-US 7 6189484 6189484 single base substitution G A 3_prime_UTR_variant STAD-US 7 6189484 6189484 single base substitution G A downstream_gene_variant STAD-US 7 6189484 6189484 single base substitution G A exon_variant STAD-US 7 6189484 6189484 single base substitution G A missense_variant V399I 1195G>A STAD-US 7 6189484 6189484 single base substitution G A missense_variant V553I 1657G>A STAD-US 7 6193579 6193579 single base substitution C T 3_prime_UTR_variant STAD-US 7 6193579 6193579 single base substitution C T downstream_gene_variant STAD-US 7 6193579 6193579 single base substitution C T exon_variant STAD-US 7 6193579 6193579 single base substitution C T synonymous_variant P644P 1932C>T STAD-US 7 6193579 6193579 single base substitution C T synonymous_variant P798P 2394C>T STAD-US 7 6193713 6193713 single base substitution C T 3_prime_UTR_variant STAD-US 7 6193713 6193713 single base substitution C T downstream_gene_variant STAD-US 7 6193713 6193713 single base substitution C T exon_variant STAD-US 7 6193713 6193713 single base substitution C T missense_variant P689L 2066C>T STAD-US 7 6193713 6193713 single base substitution C T missense_variant P843L 2528C>T STAD-US 7 6193751 6193751 single base substitution A G 3_prime_UTR_variant STAD-US 7 6193751 6193751 single base substitution A G downstream_gene_variant STAD-US 7 6193751 6193751 single base substitution A G exon_variant STAD-US 7 6193751 6193751 single base substitution A G missense_variant S702G 2104A>G STAD-US 7 6193751 6193751 single base substitution A G missense_variant S856G 2566A>G STAD-US 7 6196576 6196577 deletion of <=200bp CT - 3_prime_UTR_variant STAD-US 7 6196576 6196577 deletion of <=200bp CT - downstream_gene_variant STAD-US 7 6196576 6196577 deletion of <=200bp CT - exon_variant STAD-US 7 6196576 6196577 deletion of <=200bp CT - frameshift_variant P1278 STAD-US 7 6196693 6196693 single base substitution G T downstream_gene_variant STAD-US 7 6196693 6196693 single base substitution G T exon_variant STAD-US 7 6196693 6196693 single base substitution G T splice_region_variant STAD-US 7 6204578 6204578 deletion of <=200bp T - downstream_gene_variant STAD-US 7 6205435 6205435 single base substitution C T downstream_gene_variant THCA-SA 7 6196592 6196592 single base substitution G A 3_prime_UTR_variant THCA-SA 7 6196592 6196592 single base substitution G A downstream_gene_variant THCA-SA 7 6196592 6196592 single base substitution G A exon_variant THCA-SA 7 6196592 6196592 single base substitution G A synonymous_variant P1283P 3849G>A UCEC-US 7 6150834 6150834 single base substitution G A exon_variant UCEC-US 7 6150834 6150834 single base substitution G A missense_variant E24K 70G>A UCEC-US 7 6155006 6155006 single base substitution G T 3_prime_UTR_variant UCEC-US 7 6155006 6155006 single base substitution G T exon_variant UCEC-US 7 6155006 6155006 single base substitution G T intron_variant UCEC-US 7 6155006 6155006 single base substitution G T missense_variant K98N 294G>T UCEC-US 7 6155006 6155006 single base substitution G T upstream_gene_variant UCEC-US 7 6175546 6175546 single base substitution G A 3_prime_UTR_variant UCEC-US 7 6175546 6175546 single base substitution G A exon_variant UCEC-US 7 6175546 6175546 single base substitution G A missense_variant V106I 316G>A UCEC-US 7 6175546 6175546 single base substitution G A missense_variant V173I 517G>A UCEC-US 7 6175546 6175546 single base substitution G A missense_variant V19I 55G>A UCEC-US 7 6175579 6175579 single base substitution C T 3_prime_UTR_variant UCEC-US 7 6175579 6175579 single base substitution C T exon_variant UCEC-US 7 6175579 6175579 single base substitution C T missense_variant R117W 349C>T UCEC-US 7 6175579 6175579 single base substitution C T missense_variant R184W 550C>T UCEC-US 7 6175579 6175579 single base substitution C T missense_variant R30W 88C>T UCEC-US 7 6178812 6178812 single base substitution A C 3_prime_UTR_variant UCEC-US 7 6178812 6178812 single base substitution A C exon_variant UCEC-US 7 6178812 6178812 single base substitution A C missense_variant N148H 442A>C UCEC-US 7 6178812 6178812 single base substitution A C missense_variant N215H 643A>C UCEC-US 7 6178812 6178812 single base substitution A C missense_variant N61H 181A>C UCEC-US 7 6180592 6180592 single base substitution C A 3_prime_UTR_variant UCEC-US 7 6180592 6180592 single base substitution C A exon_variant UCEC-US 7 6180592 6180592 single base substitution C A missense_variant L104I 310C>A UCEC-US 7 6180592 6180592 single base substitution C A missense_variant L191I 571C>A UCEC-US 7 6180592 6180592 single base substitution C A missense_variant L258I 772C>A UCEC-US 7 6187412 6187412 single base substitution C A 3_prime_UTR_variant UCEC-US 7 6187412 6187412 single base substitution C A downstream_gene_variant UCEC-US 7 6187412 6187412 single base substitution C A exon_variant UCEC-US 7 6187412 6187412 single base substitution C A synonymous_variant T271T 813C>A UCEC-US 7 6187412 6187412 single base substitution C A synonymous_variant T358T 1074C>A UCEC-US 7 6187412 6187412 single base substitution C A synonymous_variant T425T 1275C>A UCEC-US 7 6187480 6187480 single base substitution C T 3_prime_UTR_variant UCEC-US 7 6187480 6187480 single base substitution C T downstream_gene_variant UCEC-US 7 6187480 6187480 single base substitution C T exon_variant UCEC-US 7 6187480 6187480 single base substitution C T missense_variant A294V 881C>T UCEC-US 7 6187480 6187480 single base substitution C T missense_variant A381V 1142C>T UCEC-US 7 6187480 6187480 single base substitution C T missense_variant A448V 1343C>T UCEC-US 7 6187481 6187481 single base substitution G A 3_prime_UTR_variant UCEC-US 7 6187481 6187481 single base substitution G A downstream_gene_variant UCEC-US 7 6187481 6187481 single base substitution G A exon_variant UCEC-US 7 6187481 6187481 single base substitution G A synonymous_variant A294A 882G>A UCEC-US 7 6187481 6187481 single base substitution G A synonymous_variant A381A 1143G>A UCEC-US 7 6187481 6187481 single base substitution G A synonymous_variant A448A 1344G>A UCEC-US 7 6189540 6189540 single base substitution G A 3_prime_UTR_variant UCEC-US 7 6189540 6189540 single base substitution G A downstream_gene_variant UCEC-US 7 6189540 6189540 single base substitution G A exon_variant UCEC-US 7 6189540 6189540 single base substitution G A synonymous_variant T417T 1251G>A UCEC-US 7 6189540 6189540 single base substitution G A synonymous_variant T571T 1713G>A UCEC-US 7 6189655 6189655 single base substitution G A 3_prime_UTR_variant UCEC-US 7 6189655 6189655 single base substitution G A downstream_gene_variant UCEC-US 7 6189655 6189655 single base substitution G A exon_variant UCEC-US 7 6189655 6189655 single base substitution G A missense_variant E456K 1366G>A UCEC-US 7 6189655 6189655 single base substitution G A missense_variant E610K 1828G>A UCEC-US 7 6194612 6194612 single base substitution G T 3_prime_UTR_variant UCEC-US 7 6194612 6194612 single base substitution G T exon_variant UCEC-US 7 6194612 6194612 single base substitution G T missense_variant D1143Y 3427G>T UCEC-US 7 6194612 6194612 single base substitution G T missense_variant D989Y 2965G>T UCEC-US 7 6196425 6196425 single base substitution G A 3_prime_UTR_variant UCEC-US 7 6196425 6196425 single base substitution G A downstream_gene_variant UCEC-US 7 6196425 6196425 single base substitution G A exon_variant UCEC-US 7 6196425 6196425 single base substitution G A missense_variant A1228T 3682G>A UCEC-US 7 6196639 6196639 single base substitution G A 3_prime_UTR_variant UCEC-US 7 6196639 6196639 single base substitution G A downstream_gene_variant UCEC-US 7 6196639 6196639 single base substitution G A exon_variant UCEC-US 7 6196639 6196639 single base substitution G A missense_variant R1299Q 3896G>A UCEC-US 7 6205175 6205175 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SJMB020 COSM4775295 c.516C>T p.D172D Substitution - coding silent 7:6135914-6135914 + PD7281a COSM3720093 c.179C>A p.A60D Substitution - Missense 7:6111312-6111312 + STC252 COSM5062535 c.3539G>T p.R1180M Substitution - Missense 7:6155093-6155093 + CHC2351T COSM4801191 c.947C>A p.S316Y Substitution - Missense 7:6144153-6144153 + T3535 COSM4739848 c.3173G>T p.R1058M Substitution - Missense 7:6154727-6154727 + Pat_06_A COSM5872949 c.586G>C p.E196Q Substitution - Missense 7:6139124-6139124 + PD9696a COSM5782675 c.1943C>T p.P648L Substitution - Missense 7:6150139-6150139 + AOCS-120-3-6 COSM4149296 c.1995C>G p.S665R Substitution - Missense 7:6150191-6150191 + TCGA-ED-A7PZ-01 COSM4916804 c.2007G>A p.P669P Substitution - coding silent 7:6150203-6150203 + CRC-12T COSM5480699 c.3944-9G>C p.? Unknown 7:6159441-6159441 + 412 COSM4431098 c.2118T>G p.A706A Substitution - coding silent 7:6150423-6150423 + TCGA-09-1674-01 COSM1330565 c.864G>C p.S288S Substitution - coding silent 7:6143000-6143000 + 587224 COSM1232073 c.748G>A p.V250I Substitution - Missense 7:6140937-6140937 + TCGA-F4-6856-01 COSM1451717 c.1280G>A p.S427N Substitution - Missense 7:6147786-6147786 + TCGA-HU-8602-01 COSM3881977 c.1657G>A p.V553I Substitution - Missense 7:6149853-6149853 + CSCC-35-T COSM4528149 c.1514G>T p.W505L Substitution - Missense 7:6149710-6149710 + TCGA-32-4213-01 COSM1150731 c.2024C>T p.A675V Substitution - Missense 7:6150220-6150220 + ESCC_BICR_028T COSM1597086 c.1343C>T p.A448V Substitution - Missense 7:6147849-6147849 + TCGA-DK-A3WW-01 COSM3778523 c.2514G>A p.M838I Substitution - Missense 7:6154068-6154068 + Pat_26_A COSM5872959 c.3115G>A p.E1039K Substitution - Missense 7:6154669-6154669 + 19 COSM5746686 c.3833_3834insCT p.L1279fs*>39 Insertion - Frameshift 7:6156945-6156946 + TCGA-AY-5543-01 COSM3750037 c.2336G>C p.R779P Substitution - Missense 7:6153890-6153890 + SW48 COSM3084815 c.33A>G p.S11S Substitution - coding silent 7:6111166-6111166 + LIM1215 COSM4362885 c.3370G>A p.A1124T Substitution - Missense 7:6154924-6154924 + OSCC-GB_01110111 COSM4881463 c.3032G>T p.R1011L Substitution - Missense 7:6154586-6154586 + 345973 COSM3726501 c.2613C>G p.L871L Substitution - coding silent 7:6154167-6154167 + PD13619a COSM5783580 c.656+1G>A p.? Unknown 7:6139195-6139195 + TCGA-EK-A2RE-01 COSM4820415 c.839C>T p.P280L Substitution - Missense 7:6142975-6142975 + WSU-HN12 COSM4591175 c.2222G>C p.G741A Substitution - Missense 7:6153776-6153776 + TCGA-D5-7000-01 COSM3698501 c.3045C>T p.G1015G Substitution - coding silent 7:6154599-6154599 + 19 COSM5746684 c.3348delC p.R1118fs*23 Deletion - Frameshift 7:6154902-6154902 + BD72T COSM1451742 c.3700delA p.K1236fs*>81 Deletion - Frameshift 7:6156812-6156812 + SNU-175 COSM3084817 c.119C>A p.A40D Substitution - Missense 7:6111252-6111252 + SCC-25 COSM4594256 c.2261G>C p.S754T Substitution - Missense 7:6153815-6153815 + TCGA-AP-A051-01 COSM1597086 c.1343C>T p.A448V Substitution - Missense 7:6147849-6147849 + TCGA-G4-6626-01 COSM1451732 c.2818G>A p.E940K Substitution - Missense 7:6154372-6154372 + TCGA-AY-6197-01 COSM1451736 c.3391C>T p.R1131C Substitution - Missense 7:6154945-6154945 + TCGA-AF-2690-01 COSM3431713 c.1656C>T p.P552P Substitution - coding silent 7:6149852-6149852 + HCA46 COSM4629570 c.2809C>A p.P937T Substitution - Missense 7:6154363-6154363 + S01022 COSM5666158 c.3387C>T p.P1129P Substitution - coding silent 7:6154941-6154941 + PCSI_0537_Pa_P_526 COSM5031230 c.1812G>A p.L604L Substitution - coding silent 7:6150008-6150008 + CAL33 COSM4591175 c.2222G>C p.G741A Substitution - Missense 7:6153776-6153776 + KM12 COSM1451742 c.3700delA p.K1236fs*>81 Deletion - Frameshift 7:6156812-6156812 + TCGA-39-5030-01 COSM1150731 c.2024C>T p.A675V Substitution - Missense 7:6150220-6150220 + CHC322T COSM3750037 c.2336G>C p.R779P Substitution - Missense 7:6153890-6153890 + SC_9097 COSM5566070 c.1318C>T p.R440W Substitution - Missense 7:6147824-6147824 + BCM545T COSM4802728 c.3561A>T p.L1187L Substitution - coding silent 7:6155115-6155115 + TCGA-D1-A103-01 COSM1597081 c.3896G>A p.R1299Q Substitution - Missense 7:6157008-6157008 + CSCC-18-T COSM4470449 c.1660C>T p.P554S Substitution - Missense 7:6149856-6149856 + LIM2551 COSM4644803 c.1529C>A p.S510Y Substitution - Missense 7:6149725-6149725 + TCGA-18-4721-01 COSM1150726 c.972C>T p.T324T Substitution - coding silent 7:6144178-6144178 + CRC-09T COSM3881980 c.2394C>T p.P798P Substitution - coding silent 7:6153948-6153948 + 587222 COSM1232075 c.3457G>A p.E1153K Substitution - Missense 7:6155011-6155011 + TCGA-CG-4465-01 COSM3881969 c.753A>G p.S251S Substitution - coding silent 7:6140942-6140942 + TCGA-G3-A5SJ-01 COSM1150726 c.972C>T p.T324T Substitution - coding silent 7:6144178-6144178 + TCGA-FS-A1ZA-06 COSM3639970 c.2074C>T p.P692S Substitution - Missense 7:6150270-6150270 + PTC-70C COSM4162334 c.3089T>C p.L1030P Substitution - Missense 7:6154643-6154643 + BCM397T COSM4951774 c.3874C>T p.R1292C Substitution - Missense 7:6156986-6156986 + T2944 COSM4739844 c.2583G>A p.A861A Substitution - coding silent 7:6154137-6154137 + S02299 COSM5690888 c.3001G>T p.G1001C Substitution - Missense 7:6154555-6154555 + BN40T COSM1623019 c.33A>C p.S11S Substitution - coding silent 7:6111166-6111166 + CSCC-27-T COSM4466647 c.1445C>T p.S482L Substitution - Missense 7:6149641-6149641 + TCGA-JX-A3Q0-01 COSM4824082 c.287C>G p.S96C Substitution - Missense 7:6115368-6115368 + Pat_40_B COSM5872945 c.302_303delTT p.L101fs*7 Deletion - Frameshift 7:6115383-6115384 + Gp2D COSM3084868 c.1825G>C p.A609P Substitution - Missense 7:6150021-6150021 + CSCC-47-T COSM4466078 c.1415C>T p.P472L Substitution - Missense 7:6149611-6149611 + PCSI_0626_Pa_P_526 COSM5761434 c.1139A>G p.N380S Substitution - Missense 7:6146155-6146155 + CSCC-62-T COSM4483955 c.2752C>T p.P918S Substitution - Missense 7:6154306-6154306 + TCGA-39-5027-01 COSM1150732 c.3153C>T p.P1051P Substitution - coding silent 7:6154707-6154707 + TCGA-HU-A4GT-01 COSM3881980 c.2394C>T p.P798P Substitution - coding silent 7:6153948-6153948 + CAL33 COSM4594256 c.2261G>C p.S754T Substitution - Missense 7:6153815-6153815 + BD72T COSM5512361 c.2321A>C p.K774T Substitution - Missense 7:6153875-6153875 + TCGA-D1-A103-01 COSM1597083 c.3427G>T p.D1143Y Substitution - Missense 7:6154981-6154981 + T3557 COSM4739846 c.3124C>T p.R1042C Substitution - Missense 7:6154678-6154678 + SNUH_G76_S1 COSM4418868 c.2190G>T p.T730T Substitution - coding silent 7:6150495-6150495 + HCC122T COSM1623021 c.146A>G p.N49S Substitution - Missense 7:6111279-6111279 + pfg122T COSM4749283 c.2047G>T p.G683C Substitution - Missense 7:6150243-6150243 + TCGA-E2-A14Q-01 COSM1488620 c.302T>G p.L101R Substitution - Missense 7:6115383-6115383 + TCGA-AH-6544-01 COSM3750037 c.2336G>C p.R779P Substitution - Missense 7:6153890-6153890 + HCA7 COSM4631223 c.639C>A p.C213* Substitution - Nonsense 7:6139177-6139177 + 8069120 COSM3785734 c.2683G>T p.A895S Substitution - Missense 7:6154237-6154237 + pfg143T COSM4749285 c.3001G>A p.G1001S Substitution - Missense 7:6154555-6154555 + TCGA-AP-A056-01 COSM1597082 c.3682G>A p.A1228T Substitution - Missense 7:6156794-6156794 + TCGA-A8-A09Z-01 COSM1451742 c.3700delA p.K1236fs*>81 Deletion - Frameshift 7:6156812-6156812 + CSCC-54-T COSM4488018 c.3262C>T p.L1088L Substitution - coding silent 7:6154816-6154816 + Pat_41_B COSM5872953 c.1979C>T p.A660V Substitution - Missense 7:6150175-6150175 + sysucc-1397T COSM5475073 c.3243C>T p.R1081R Substitution - coding silent 7:6154797-6154797 + CSCC-60-T COSM4472108 c.1760C>T p.S587F Substitution - Missense 7:6149956-6149956 + DLD1 COSM4626054 c.3390C>T p.D1130D Substitution - coding silent 7:6154944-6154944 + T2941 COSM4739850 c.3731C>G p.S1244* Substitution - Nonsense 7:6156843-6156843 + ESCC-069T COSM3942273 c.554-2A>G p.? Unknown 7:6139090-6139090 + T3152 COSM4739841 c.879G>A p.K293K Substitution - coding silent 7:6144085-6144085 + STC252 COSM5062537 c.3885G>A p.T1295T Substitution - coding silent 7:6156997-6156997 + UM-SCC-17B COSM4594256 c.2261G>C p.S754T Substitution - Missense 7:6153815-6153815 + 98 COSM5011724 c.1330A>G p.N444D Substitution - Missense 7:6147836-6147836 + CSCC-16-T COSM4559026 c.789G>A p.E263E Substitution - coding silent 7:6140978-6140978 + TCGA-EE-A29D-06 COSM3639974 c.3855G>A p.L1285L Substitution - coding silent 7:6156967-6156967 + LS411 COSM3084829 c.571C>T p.R191C Substitution - Missense 7:6139109-6139109 + TCGA-G4-6302-01 COSM1488623 c.2567G>A p.S856N Substitution - Missense 7:6154121-6154121 + TCGA-AP-A059-01 COSM1597084 c.1713G>A p.T571T Substitution - coding silent 7:6149909-6149909 + 61 COSM5737863 c.418C>A p.L140I Substitution - Missense 7:6115499-6115499 + Gp2D COSM3084897 c.2588C>A p.S863* Substitution - Nonsense 7:6154142-6154142 + T3225 COSM1597086 c.1343C>T p.A448V Substitution - Missense 7:6147849-6147849 + C135 COSM4618712 c.643A>T p.N215Y Substitution - Missense 7:6139181-6139181 + OSCC-GB_00620111 COSM4881463 c.3032G>T p.R1011L Substitution - Missense 7:6154586-6154586 + TCGA-CM-6168-01 COSM3698499 c.2723C>T p.P908L Substitution - Missense 7:6154277-6154277 + 587222 COSM1150729 c.1751G>A p.R584H Substitution - Missense 7:6149947-6149947 + RK308_C01 COSM3768450 c.3626G>A p.R1209Q Substitution - Missense 7:6155180-6155180 + TCGA-BR-A453-01 COSM3881975 c.1621C>A p.L541I Substitution - Missense 7:6149817-6149817 + SNU-175 COSM3084911 c.2746G>A p.A916T Substitution - Missense 7:6154300-6154300 + WSU-HN6 COSM4591175 c.2222G>C p.G741A Substitution - Missense 7:6153776-6153776 + CHC2351T COSM4801191 c.947C>A p.S316Y Substitution - Missense 7:6144153-6144153 + TCGA-BR-4257-01 COSM3881967 c.350G>A p.G117D Substitution - Missense 7:6115431-6115431 + TCGA-14-1829-01 COSM3412221 c.891G>A p.M297I Substitution - Missense 7:6144097-6144097 + TCGA-DK-A2I4-01 COSM3778521 c.1506C>T p.V502V Substitution - coding silent 7:6149702-6149702 + 1N45-VS-1T45 COSM1597090 c.70G>A p.E24K Substitution - Missense 7:6111203-6111203 + LIM1215 COSM1150730 c.1849G>A p.E617K Substitution - Missense 7:6150045-6150045 + 8061178 COSM1154836 c.550C>T p.R184W Substitution - Missense 7:6135948-6135948 + 587360 COSM1232077 c.3392G>A p.R1131H Substitution - Missense 7:6154946-6154946 + OSCC-GB_01040111 COSM4886187 c.208G>A p.D70N Substitution - Missense 7:6111341-6111341 + TCGA-BR-4363-01 COSM3881985 c.3943+7G>T p.? Unknown 7:6157062-6157062 + BD124T COSM4749285 c.3001G>A p.G1001S Substitution - Missense 7:6154555-6154555 + CHEWS007 COSM4587504 c.1911C>T p.P637P Substitution - coding silent 7:6150107-6150107 + BD165T COSM1451719 c.1285G>A p.G429S Substitution - Missense 7:6147791-6147791 + MINO COSM1739374 c.1297C>T p.P433S Substitution - Missense 7:6147803-6147803 + PCSI_0076_Pa_X COSM3788293 c.3631C>T p.R1211C Substitution - Missense 7:6155185-6155185 + YUGURT COSM5407774 c.3837C>T p.L1279L Substitution - coding silent 7:6156949-6156949 + Pat_11_A COSM5872957 c.3073C>T p.R1025W Substitution - Missense 7:6154627-6154627 + TCGA-G4-6311-01 COSM1488623 c.2567G>A p.S856N Substitution - Missense 7:6154121-6154121 + sysucc-1370T COSM3084928 c.3068G>A p.R1023Q Substitution - Missense 7:6154622-6154622 + TCGA-BR-8589-01 COSM3881983 c.2566A>G p.S856G Substitution - Missense 7:6154120-6154120 + RDES COSM4587502 c.1593T>G p.P531P Substitution - coding silent 7:6149789-6149789 + TCGA-F5-6814-01 COSM3431715 c.1948G>A p.E650K Substitution - Missense 7:6150144-6150144 + RK266_C01 COSM4780130 c.1426A>T p.T476S Substitution - Missense 7:6149622-6149622 + TCGA-CM-6168-01 COSM3750037 c.2336G>C p.R779P Substitution - Missense 7:6153890-6153890 + LIM1215 COSM4362881 c.2589G>A p.S863S Substitution - coding silent 7:6154143-6154143 + HCC39T COSM1623023 c.1144C>G p.L382V Substitution - Missense 7:6146160-6146160 + HCC122 COSM1623021 c.146A>G p.N49S Substitution - Missense 7:6111279-6111279 + GC_296T1-GC_296N COSM4772142 c.1597C>T p.R533C Substitution - Missense 7:6149793-6149793 + TCGA-66-2795-01 COSM1150730 c.1849G>A p.E617K Substitution - Missense 7:6150045-6150045 + TCGA-HU-8608-01 COSM3881965 c.154C>T p.L52F Substitution - Missense 7:6111287-6111287 + TCGA-G4-6588-01 COSM1451724 c.1883T>A p.I628N Substitution - Missense 7:6150079-6150079 + TCGA-RC-A7SF-01 COSM4923143 c.1005T>A p.P335P Substitution - coding silent 7:6145530-6145530 + SW480 COSM4656012 c.395C>T p.T132I Substitution - Missense 7:6115476-6115476 + Gp5D COSM3084897 c.2588C>A p.S863* Substitution - Nonsense 7:6154142-6154142 + TCGA-HF-7132-01 COSM3881971 c.1346C>T p.P449L Substitution - Missense 7:6147852-6147852 + T3091 COSM4739843 c.2412C>T p.S804S Substitution - coding silent 7:6153966-6153966 + TCGA-G4-6298-01 COSM3750037 c.2336G>C p.R779P Substitution - Missense 7:6153890-6153890 + ESCC-002T COSM3942275 c.3779G>C p.R1260T Substitution - Missense 7:6156891-6156891 + TCGA-UB-A7MB-01 COSM4931098 c.897A>T p.P299P Substitution - coding silent 7:6144103-6144103 + CSCC-29-T COSM4483763 c.2734C>T p.P912S Substitution - Missense 7:6154288-6154288 + TCGA-AD-5900-01 COSM1451728 c.2018G>A p.G673D Substitution - Missense 7:6150214-6150214 + TCGA-66-2794-01 COSM1150729 c.1751G>A p.R584H Substitution - Missense 7:6149947-6149947 + H1703 COSM1196559 c.1904A>T p.H635L Substitution - Missense 7:6150100-6150100 + TCGA-KK-A59V-01 COSM4878966 c.2576C>T p.P859L Substitution - Missense 7:6154130-6154130 + TCGA-AP-A056-01 COSM1597089 c.294G>T p.K98N Substitution - Missense 7:6115375-6115375 + TCGA-A6-5665-01 COSM1451726 c.1887T>C p.G629G Substitution - coding silent 7:6150083-6150083 + LS513 COSM3084893 c.2570C>G p.P857R Substitution - Missense 7:6154124-6154124 + TCGA-CI-6624-01 COSM3750037 c.2336G>C p.R779P Substitution - Missense 7:6153890-6153890 + TCGA-FV-A495-01 COSM4914326 c.3207C>T p.Y1069Y Substitution - coding silent 7:6154761-6154761 + 0128_CRUK_PC_0128_T1_DNA COSM5420998 c.2479G>A p.D827N Substitution - Missense 7:6154033-6154033 + TCGA-BT-A0YX-01 COSM1133811 c.763G>C p.D255H Substitution - Missense 7:6140952-6140952 + I2L-P25-Tumor-Organoid COSM5358309 c.497C>T p.A166V Substitution - Missense 7:6135895-6135895 + CSCC-19-T COSM4566187 c.3235_3236GG>AA p.G1079N Substitution - Missense 7:6154789-6154790 + TCGA-AQ-A04J-01 COSM1488625 c.3790T>G p.L1264V Substitution - Missense 7:6156902-6156902 + HCT8 COSM4635523 c.3181T>C p.Y1061H Substitution - Missense 7:6154735-6154735 + CCK81 COSM4620835 c.3276G>A p.P1092P Substitution - coding silent 7:6154830-6154830 + J74_T COSM3950680 c.2016C>T p.N672N Substitution - coding silent 7:6150212-6150212 + TCGA-33-4582-01 COSM1150728 c.1743G>A p.P581P Substitution - coding silent 7:6149939-6149939 + TCGA-CM-6674-01 COSM3698505 c.3895C>T p.R1299W Substitution - Missense 7:6157007-6157007 + 93VU147T COSM4591175 c.2222G>C p.G741A Substitution - Missense 7:6153776-6153776 + TCGA-A6-5667-01 COSM3698497 c.2628C>A p.S876R Substitution - Missense 7:6154182-6154182 + CSCC-10-T COSM1739374 c.1297C>T p.P433S Substitution - Missense 7:6147803-6147803 + T98G COSM5712395 c.2272G>C p.E758Q Substitution - Missense 7:6153826-6153826 + HCC39 COSM1623023 c.1144C>G p.L382V Substitution - Missense 7:6146160-6146160 + 587382 COSM1232079 c.1705G>A p.A569T Substitution - Missense 7:6149901-6149901 + Pat_41_B COSM5872955 c.2449G>A p.D817N Substitution - Missense 7:6154003-6154003 + STC291 COSM1451730 c.2092G>A p.G698S Substitution - Missense 7:6150288-6150288 + TCGA-CK-5915-01 COSM3750037 c.2336G>C p.R779P Substitution - Missense 7:6153890-6153890 + TCGA-D1-A17Q-01 COSM1597088 c.643A>C p.N215H Substitution - Missense 7:6139181-6139181 + TCGA-G4-6303-01 COSM1451715 c.951G>T p.L317L Substitution - coding silent 7:6144157-6144157 + sysucc-2026T COSM5461060 c.1974C>T p.N658N Substitution - coding silent 7:6150170-6150170 + TCGA-AA-3663-01 COSM3698496 c.2490G>A p.P830P Substitution - coding silent 7:6154044-6154044 + TCGA-BR-8284-01 COSM1597086 c.1343C>T p.A448V Substitution - Missense 7:6147849-6147849 + HCC2998 COSM3084819 c.192G>A p.S64S Substitution - coding silent 7:6111325-6111325 + TTC466 COSM4587506 c.3668C>T p.A1223V Substitution - Missense 7:6156780-6156780 + BN40 COSM1623019 c.33A>C p.S11S Substitution - coding silent 7:6111166-6111166 + Pat_24_A COSM5872947 c.467T>C p.M156T Substitution - Missense 7:6135865-6135865 + TCGA-CD-A4MG-01 COSM3881981 c.2528C>T p.P843L Substitution - Missense 7:6154082-6154082 + U2940 COSM5622124 c.3889C>T p.H1297Y Substitution - Missense 7:6157001-6157001 + YUKAT COSM5407770 c.1827C>T p.A609A Substitution - coding silent 7:6150023-6150023 + 2521262 COSM5892000 c.3856G>A p.E1286K Substitution - Missense 7:6156968-6156968 + TCGA-B6-A0IM-01 COSM5835431 c.3358_3361delGGCG p.G1120fs*20 Deletion - Frameshift 7:6154912-6154915 + T3099 COSM3084905 c.2632G>A p.D878N Substitution - Missense 7:6154186-6154186 + BCM397T COSM4951774 c.3874C>T p.R1292C Substitution - Missense 7:6156986-6156986 + TCGA-D3-A2J8-06 COSM3639972 c.3808T>C p.F1270L Substitution - Missense 7:6156920-6156920 + Pat_41_A COSM5872956 c.2483C>T p.A828V Substitution - Missense 7:6154037-6154037 + LC_C23 COSM1187257 c.34G>T p.D12Y Substitution - Missense 7:6111167-6111167 + TCGA-D9-A6EC-06 COSM4403423 c.382T>C p.C128R Substitution - Missense 7:6115463-6115463 + TCGA-60-2720-01 COSM1150727 c.1290G>C p.Q430H Substitution - Missense 7:6147796-6147796 + TCGA-C5-A7CL-01 COSM4837947 c.1446G>A p.S482S Substitution - coding silent 7:6149642-6149642 + TCGA-CM-6674-01 COSM1451738 c.3657A>G p.S1219S Substitution - coding silent 7:6156769-6156769 + BK0019 COSM4186139 c.1576A>G p.I526V Substitution - Missense 7:6149772-6149772 + DLD1 COSM4626052 c.2541G>A p.A847A Substitution - coding silent 7:6154095-6154095 + TCGA-AX-A0J1-01 COSM1597085 c.1344G>A p.A448A Substitution - coding silent 7:6147850-6147850 + TCGA-B5-A0JY-01 COSM1597087 c.772C>A p.L258I Substitution - Missense 7:6140961-6140961 + Pat_41_B COSM5872961 c.3827G>A p.G1276D Substitution - Missense 7:6156939-6156939 + Gp5D COSM3084868 c.1825G>C p.A609P Substitution - Missense 7:6150021-6150021 + TCGA-D8-A27N-01 COSM1488621 c.553+2T>A p.? Unknown 7:6135953-6135953 + BD121T COSM5515176 c.3597G>T p.K1199N Substitution - Missense 7:6155151-6155151 + 2293782 COSM4609339 c.1137C>A p.S379R Substitution - Missense 7:6146153-6146153 + UMC11 COSM3084866 c.1820A>G p.Y607C Substitution - Missense 7:6150016-6150016 + ESO-160 COSM1270091 c.1317G>A p.Q439Q Substitution - coding silent 7:6147823-6147823 + ORL-48 COSM4594256 c.2261G>C p.S754T Substitution - Missense 7:6153815-6153815 + TCGA-EE-A2GP-06 COSM3639968 c.2029G>A p.D677N Substitution - Missense 7:6150225-6150225 + BCM545T COSM4802728 c.3561A>T p.L1187L Substitution - coding silent 7:6155115-6155115 + TCGA-A6-5659-01 COSM1451730 c.2092G>A p.G698S Substitution - Missense 7:6150288-6150288 + TCGA-EX-A449-01 COSM1154839 c.1828G>A p.E610K Substitution - Missense 7:6150024-6150024 + TCGA-AZ-6598-01 COSM3698503 c.3242G>A p.R1081H Substitution - Missense 7:6154796-6154796 + UM-SCC-11B COSM4591175 c.2222G>C p.G741A Substitution - Missense 7:6153776-6153776 + 509 COSM5611968 c.520A>G p.I174V Substitution - Missense 7:6135918-6135918 + I2L-P25-Tumor-Organoid COSM5358297 c.2473A>G p.T825A Substitution - Missense 7:6154027-6154027 + pfg122T COSM1451742 c.3700delA p.K1236fs*>81 Deletion - Frameshift 7:6156812-6156812 + TCGA-B5-A11E-01 COSM1597090 c.70G>A p.E24K Substitution - Missense 7:6111203-6111203 + TCGA-CM-4743-01 COSM1451719 c.1285G>A p.G429S Substitution - Missense 7:6147791-6147791 + HCC074T COSM5810179 c.1720G>T p.V574F Substitution - Missense 7:6149916-6149916 + CSCC-11-T COSM4463779 c.1305C>T p.P435P Substitution - coding silent 7:6147811-6147811 + TCGA-BR-4361-01 COSM3881973 c.1472A>G p.N491S Substitution - Missense 7:6149668-6149668 + Pat_26_A COSM5872951 c.1774G>A p.V592M Substitution - Missense 7:6149970-6149970 + J30_T COSM3950678 c.1428G>T p.T476T Substitution - coding silent 7:6149624-6149624 + TCGA-AD-5900-01 COSM1451734 c.3389A>G p.D1130G Substitution - Missense 7:6154943-6154943 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.31856 7p22.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E515A c.1544A>C 7 6189371 SCLC A G Synonymous p.Q682Q c.2046A>G 7 6189873 LUAD A G Synonymous p.S251S c.753A>G 7 6180573 STAD A G Synonymous p.V578V c.1734A>G 7 6189561 PAAD C A Missense p.P554T c.1660C>A 7 6189487 STAD C A Synonymous p.T425T c.1275C>A 7 6187412 UCEC CC TT Missense p.P435L c.1304_1305delinsTT 7 6187441 CM C G Missense p.Q282E c.844C>G 7 6182611 LUAD CT - Frameshift p.S1280Wfs*13 c.3839_3840delCT 7 6196576 STAD C T Missense p.A675V c.2024C>T 7 6189851 GBM C T Missense p.A675V c.2024C>T 7 6189851 LUSC C T Missense p.P692S c.2074C>T 7 6189901 CM C T Missense p.P89S c.265C>T 7 6154977 CM C T Missense p.P95L c.284C>T 7 6154996 CM C T Missense p.R184W c.550C>T 7 6175579 UCEC C T Missense p.R779C c.2335C>T 7 6193520 BRCA C T Synonymous p.G728G c.2184C>T 7 6190120 RCCC C T Synonymous p.P1051P c.3153C>T 7 6194338 LUSC C T Synonymous p.S488S c.1464C>T 7 6189291 LUAD C T Synonymous p.T324T c.972C>T 7 6183809 LUSC C T Synonymous p.V502V c.1506C>T 7 6189333 BLCA G A Missense p.A790T c.2368G>A 7 6193553 MM G A Missense p.D331N c.991G>A 7 6185147 CM G A Missense p.D677N c.2029G>A 7 6189856 CM G A Missense p.E151K c.451G>A 7 6175480 CM G A Missense p.E610K c.1828G>A 7 6189655 UCEC G A Missense p.E617K c.1849G>A 7 6189676 LUSC G A Missense p.G117D c.350G>A 7 6155062 STAD G A Missense p.M297I c.891G>A 7 6183728 GBM G A Missense p.R584H c.1751G>A 7 6189578 LUSC G A Missense p.V173I c.517G>A 7 6175546 UCEC G A Synonymous p.L604L c.1812G>A 7 6189639 OV G A Synonymous p.P581P c.1743G>A 7 6189570 LUSC G A Synonymous p.Q439Q c.1317G>A 7 6187454 ESCA G C Missense p.D255H c.763G>C 7 6180583 BLCA G C Missense p.G429R c.1285G>C 7 6187422 LUAD G C Missense p.Q430H c.1290G>C 7 6187427 LUSC G C Synonymous p.A828A c.2484G>C 7 6193669 HNSC G T Missense p.R1060L c.3179G>T 7 6194364 SCLC G T Missense p.W505C c.1515G>T 7 6189342 GBM T A SpliceDonorSNV . c.553+2T>A 7 6175584 BRCA T C Missense p.F1270L c.3808T>C 7 6196551 CM T C Missense p.L82P c.245T>C 7 6154957 RCCC T C Synonymous p.F121F c.363T>C 7 6155075 CM T G IntronicSNV . c.657-174T>G 7 6179585 CM T G Missense p.L101R c.302T>G 7 6155014 BRCA