Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 4 4301680 4301680 + Missense_Mutation SNP C C T TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr4:4301680C>T c.8C>T c.(7-9)cCt>cTt p.P3L BLCA 4 4303794 4303794 + Silent SNP G G A TCGA-XF-AAN2-01A-11D-A42E-08 TCGA-XF-AAN2-10A-01D-A42H-08 g.chr4:4303794G>A c.231G>A c.(229-231)caG>caA p.Q77Q BLCA 4 4303819 4303819 + Missense_Mutation SNP C C T TCGA-LT-A5Z6-01A-11D-A289-08 TCGA-LT-A5Z6-10A-01D-A289-08 g.chr4:4303819C>T c.256C>T c.(256-258)Cat>Tat p.H86Y BLCA 4 4303908 4303908 + Silent SNP A A T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr4:4303908A>T c.345A>T c.(343-345)acA>acT p.T115T BLCA 4 4304292 4304292 + Silent SNP C C T TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr4:4304292C>T c.729C>T c.(727-729)ttC>ttT p.F243F BLCA 4 4307905 4307905 + Missense_Mutation SNP C C A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr4:4307905C>A c.1296C>A c.(1294-1296)ttC>ttA p.F432L BLCA 4 4307909 4307909 + Missense_Mutation SNP C C G TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr4:4307909C>G c.1300C>G c.(1300-1302)Cag>Gag p.Q434E BLCA 4 4314802 4314802 + Missense_Mutation SNP C C G TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr4:4314802C>G c.1337C>G c.(1336-1338)tCt>tGt p.S446C BLCA 4 4317400 4317400 + Missense_Mutation SNP A A T TCGA-BT-A20T-01A-11D-A14W-08 TCGA-BT-A20T-11A-11D-A14W-08 g.chr4:4317400A>T c.1414A>T c.(1414-1416)Att>Ttt p.I472F BLCA 4 4322688 4322688 + Missense_Mutation SNP C C G TCGA-XF-AAMJ-01A-11D-A42E-08 TCGA-XF-AAMJ-10A-01D-A42H-08 g.chr4:4322688C>G c.1943C>G c.(1942-1944)tCt>tGt p.S648C BLCA 4 4322864 4322864 + Missense_Mutation SNP G G A TCGA-2F-A9KO-01A-11D-A38G-08 TCGA-2F-A9KO-11A-12D-A38J-08 g.chr4:4322864G>A c.2119G>A c.(2119-2121)Gat>Aat p.D707N BLCA 4 4322864 4322864 + Missense_Mutation SNP G G A TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr4:4322864G>A c.2119G>A c.(2119-2121)Gat>Aat p.D707N BLCA 4 4322918 4322918 + Missense_Mutation SNP G G A TCGA-FD-A3SO-01A-11D-A22Z-08 TCGA-FD-A3SO-10A-01D-A22Z-08 g.chr4:4322918G>A c.2173G>A c.(2173-2175)Gac>Aac p.D725N BLCA 4 4322940 4322940 + Missense_Mutation SNP C C T TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr4:4322940C>T c.2195C>T c.(2194-2196)tCt>tTt p.S732F BRCA 4 4301738 4301738 + Silent SNP C C T TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 g.chr4:4301738C>T c.66C>T c.(64-66)ggC>ggT p.G22G BRCA 4 4304255 4304255 + Missense_Mutation SNP C C A TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr4:4304255C>A c.692C>A c.(691-693)cCc>cAc p.P231H BRCA 4 4314784 4314784 + Missense_Mutation SNP C C G TCGA-D8-A142-01A-11D-A10Y-09 TCGA-D8-A142-10A-01D-A110-09 g.chr4:4314784C>G c.1319C>G c.(1318-1320)aCt>aGt p.T440S BRCA 4 4317653 4317653 + Missense_Mutation SNP G G T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr4:4317653G>T c.1577G>T c.(1576-1578)aGa>aTa p.R526I BRCA 4 4317658 4317658 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr4:4317658C>T c.1582C>T c.(1582-1584)Cgg>Tgg p.R528W BRCA 4 4322987 4322987 + Missense_Mutation SNP A A T TCGA-AR-A24H-01A-11D-A167-09 TCGA-AR-A24H-10A-01D-A167-09 g.chr4:4322987A>T c.2242A>T c.(2242-2244)Act>Tct p.T748S CESC 4 4322678 4322678 + Missense_Mutation SNP G G A TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 g.chr4:4322678G>A c.1933G>A c.(1933-1935)Gat>Aat p.D645N CHOL 4 4304317 4304317 + Missense_Mutation SNP G G T TCGA-ZH-A8Y4-01A-11D-A417-09 TCGA-ZH-A8Y4-10A-01D-A41A-09 g.chr4:4304317G>T c.754G>T c.(754-756)Gta>Tta p.V252L COAD 4 4303944 4303944 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr4:4303944C>T c.381C>T c.(379-381)ggC>ggT p.G127G COAD 4 4304088 4304088 + Silent SNP G G A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr4:4304088G>A c.525G>A c.(523-525)ccG>ccA p.P175P COAD 4 4304190 4304190 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:4304190G>A c.627G>A c.(625-627)caG>caA p.Q209Q COAD 4 4304240 4304240 + Missense_Mutation SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr4:4304240A>G c.677A>G c.(676-678)aAa>aGa p.K226R COAD 4 4322569 4322569 + Silent SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr4:4322569C>T c.1824C>T c.(1822-1824)ctC>ctT p.L608L COAD 4 4322742 4322742 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:4322742A>G c.1997A>G c.(1996-1998)gAc>gGc p.D666G COAD 4 4322775 4322775 + Missense_Mutation SNP T T G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr4:4322775T>G c.2030T>G c.(2029-2031)cTt>cGt p.L677R COADREAD 4 4303787 4303787 + Missense_Mutation SNP T T C TCGA-F5-6812-01A-11D-1826-10 TCGA-F5-6812-10A-01D-1826-10 g.chr4:4303787T>C c.224T>C c.(223-225)aTa>aCa p.I75T COADREAD 4 4303944 4303944 + Silent SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr4:4303944C>T c.381C>T c.(379-381)ggC>ggT p.G127G COADREAD 4 4304088 4304088 + Silent SNP G G A TCGA-AA-3518-01A-02W-0833-10 TCGA-AA-3518-10A-01W-0833-10 g.chr4:4304088G>A c.525G>A c.(523-525)ccG>ccA p.P175P COADREAD 4 4304190 4304190 + Silent SNP G G A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:4304190G>A c.627G>A c.(625-627)caG>caA p.Q209Q COADREAD 4 4304240 4304240 + Missense_Mutation SNP A A G TCGA-G4-6588-01A-11D-1771-10 TCGA-G4-6588-10A-01D-1771-10 g.chr4:4304240A>G c.677A>G c.(676-678)aAa>aGa p.K226R COADREAD 4 4322569 4322569 + Silent SNP C C T TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr4:4322569C>T c.1824C>T c.(1822-1824)ctC>ctT p.L608L COADREAD 4 4322742 4322742 + Missense_Mutation SNP A A G TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr4:4322742A>G c.1997A>G c.(1996-1998)gAc>gGc p.D666G COADREAD 4 4322775 4322775 + Missense_Mutation SNP T T G TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr4:4322775T>G c.2030T>G c.(2029-2031)cTt>cGt p.L677R DLBC 4 4322555 4322555 + Missense_Mutation SNP G G A TCGA-RQ-A68N-01A-11D-A31X-10 TCGA-RQ-A68N-10A-01D-A31X-10 g.chr4:4322555G>A c.1810G>A c.(1810-1812)Gag>Aag p.E604K ESCA 4 4303750 4303750 + Missense_Mutation SNP G G A TCGA-JY-A93E-01A-11D-A37C-09 TCGA-JY-A93E-10A-01D-A37F-09 g.chr4:4303750G>A c.187G>A c.(187-189)Gat>Aat p.D63N ESCA 4 4304045 4304045 + Nonsense_Mutation SNP C C G TCGA-R6-A6Y0-01B-11D-A33E-09 TCGA-R6-A6Y0-10A-01D-A33H-09 g.chr4:4304045C>G c.482C>G c.(481-483)tCa>tGa p.S161* ESCA 4 4317368 4317368 + Missense_Mutation SNP C C T TCGA-VR-A8EO-01A-11D-A36J-09 TCGA-VR-A8EO-10A-01D-A36M-09 g.chr4:4317368C>T c.1382C>T c.(1381-1383)gCa>gTa p.A461V GBMLGG 4 4303755 4303755 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:4303755T>C c.192T>C c.(190-192)gtT>gtC p.V64V GBMLGG 4 4304568 4304568 + Silent SNP G G A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 g.chr4:4304568G>A c.1005G>A c.(1003-1005)aaG>aaA p.K335K GBMLGG 4 4317620 4317620 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:4317620C>A c.1544C>A c.(1543-1545)tCt>tAt p.S515Y HNSC 4 4301683 4301683 + Missense_Mutation SNP T T C TCGA-CN-6018-01A-11D-1683-08 TCGA-CN-6018-10A-01D-1683-08 g.chr4:4301683T>C c.11T>C c.(10-12)gTt>gCt p.V4A HNSC 4 4304616 4304616 + Silent SNP A A G TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr4:4304616A>G c.1053A>G c.(1051-1053)caA>caG p.Q351Q HNSC 4 4314793 4314793 + Missense_Mutation SNP G G A TCGA-CV-6955-01A-11D-2012-08 TCGA-CV-6955-10A-01D-2013-08 g.chr4:4314793G>A c.1328G>A c.(1327-1329)cGa>cAa p.R443Q HNSC 4 4317368 4317368 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr4:4317368C>T c.1382C>T c.(1381-1383)gCa>gTa p.A461V HNSC 4 4322503 4322503 + Nonsense_Mutation SNP C C A TCGA-CQ-A4CE-01A-11D-A25Y-08 TCGA-CQ-A4CE-10A-01D-A25Y-08 g.chr4:4322503C>A c.1758C>A c.(1756-1758)tgC>tgA p.C586* HNSC 4 4322518 4322518 + Missense_Mutation SNP G G C TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr4:4322518G>C c.1773G>C c.(1771-1773)gaG>gaC p.E591D HNSC 4 4322518 4322518 + Missense_Mutation SNP G G T TCGA-CQ-A4C7-01A-11D-A25D-08 TCGA-CQ-A4C7-10A-01D-A25E-08 g.chr4:4322518G>T c.1773G>T c.(1771-1773)gaG>gaT p.E591D HNSC 4 4322525 4322525 + Missense_Mutation SNP G G C TCGA-BB-A5HU-01A-11D-A28R-08 TCGA-BB-A5HU-10A-01D-A28U-08 g.chr4:4322525G>C c.1780G>C c.(1780-1782)Gat>Cat p.D594H KICH 4 4322722 4322722 + Silent SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr4:4322722C>T c.1977C>T c.(1975-1977)atC>atT p.I659I KIPAN 4 4303969 4303969 + Silent SNP C C T TCGA-CJ-5675-01A-11D-1534-10 TCGA-CJ-5675-11A-01D-1534-10 g.chr4:4303969C>T c.406C>T c.(406-408)Cta>Tta p.L136L KIPAN 4 4304210 4304210 + Missense_Mutation SNP T T G TCGA-B0-5119-01A-02D-1421-08 TCGA-B0-5119-11A-01D-1421-08 g.chr4:4304210T>G c.647T>G c.(646-648)cTc>cGc p.L216R KIPAN 4 4322599 4322599 + Silent SNP C C A TCGA-DZ-6133-01A-11D-1961-08 TCGA-DZ-6133-10A-01D-1962-08 g.chr4:4322599C>A c.1854C>A c.(1852-1854)tcC>tcA p.S618S KIPAN 4 4322722 4322722 + Silent SNP C C T TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr4:4322722C>T c.1977C>T c.(1975-1977)atC>atT p.I659I KIRC 4 4303969 4303969 + Silent SNP C C T TCGA-CJ-5675-01A-11D-1534-10 TCGA-CJ-5675-11A-01D-1534-10 g.chr4:4303969C>T c.406C>T c.(406-408)Cta>Tta p.L136L KIRC 4 4304210 4304210 + Missense_Mutation SNP T T G TCGA-B0-5119-01A-02D-1421-08 TCGA-B0-5119-11A-01D-1421-08 g.chr4:4304210T>G c.647T>G c.(646-648)cTc>cGc p.L216R KIRP 4 4322599 4322599 + Silent SNP C C A TCGA-DZ-6133-01A-11D-1961-08 TCGA-DZ-6133-10A-01D-1962-08 g.chr4:4322599C>A c.1854C>A c.(1852-1854)tcC>tcA p.S618S LGG 4 4303755 4303755 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:4303755T>C c.192T>C c.(190-192)gtT>gtC p.V64V LGG 4 4304568 4304568 + Silent SNP G G A TCGA-FG-7636-01A-11D-2086-08 TCGA-FG-7636-10A-01D-2086-08 g.chr4:4304568G>A c.1005G>A c.(1003-1005)aaG>aaA p.K335K LGG 4 4317620 4317620 + Missense_Mutation SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr4:4317620C>A c.1544C>A c.(1543-1545)tCt>tAt p.S515Y LIHC 4 4303971 4303971 + Silent SNP A A G TCGA-BC-A112-01A-11D-A12Z-10 TCGA-BC-A112-11A-11D-A12Z-10 g.chr4:4303971A>G c.408A>G c.(406-408)ctA>ctG p.L136L LIHC 4 4304686 4304686 + Missense_Mutation SNP A A G TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr4:4304686A>G c.1123A>G c.(1123-1125)Agg>Ggg p.R375G LUAD 4 4304168 4304168 + Missense_Mutation SNP G G T TCGA-17-Z062-01A-01W-0747-08 TCGA-17-Z062-11A-01W-0747-08 g.chr4:4304168G>T c.605G>T c.(604-606)tGc>tTc p.C202F LUAD 4 4304252 4304252 + Missense_Mutation SNP G G T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr4:4304252G>T c.689G>T c.(688-690)gGt>gTt p.G230V LUAD 4 4304804 4304804 + Missense_Mutation SNP A A T TCGA-62-A46P-01A-11D-A24D-08 TCGA-62-A46P-10A-01D-A24F-08 g.chr4:4304804A>T c.1241A>T c.(1240-1242)aAa>aTa p.K414I LUAD 4 4317389 4317389 + Missense_Mutation SNP G G A TCGA-97-7554-01A-11D-2036-08 TCGA-97-7554-10A-01D-2036-08 g.chr4:4317389G>A c.1403G>A c.(1402-1404)cGt>cAt p.R468H LUAD 4 4317644 4317644 + Missense_Mutation SNP T T G TCGA-78-7153-01A-11D-2036-08 TCGA-78-7153-10A-01D-2036-08 g.chr4:4317644T>G c.1568T>G c.(1567-1569)gTa>gGa p.V523G LUAD 4 4317667 4317667 + Missense_Mutation SNP G G T TCGA-55-8092-01A-11D-2238-08 TCGA-55-8092-10A-01D-2238-08 g.chr4:4317667G>T c.1591G>T c.(1591-1593)Ggg>Tgg p.G531W LUAD 4 4322915 4322915 + Missense_Mutation SNP G G T TCGA-97-7941-01A-11D-2184-08 TCGA-97-7941-10A-01D-2184-08 g.chr4:4322915G>T c.2170G>T c.(2170-2172)Ggt>Tgt p.G724C LUAD 4 4323004 4323004 + Silent SNP G G T TCGA-NJ-A4YG-01A-22D-A25L-08 TCGA-NJ-A4YG-10A-01D-A25L-08 g.chr4:4323004G>T c.2259G>T c.(2257-2259)gcG>gcT p.A753A LUSC 4 4303783 4303783 + Missense_Mutation SNP G G T TCGA-22-4599-01A-01D-1441-08 TCGA-22-4599-11A-01D-1441-08 g.chr4:4303783G>T c.220G>T c.(220-222)Ggc>Tgc p.G74C LUSC 4 4304558 4304558 + Missense_Mutation SNP G G A TCGA-22-0944-01A-01D-1521-08 TCGA-22-0944-11A-01D-1521-08 g.chr4:4304558G>A c.995G>A c.(994-996)gGt>gAt p.G332D LUSC 4 4304612 4304612 + Missense_Mutation SNP G G T TCGA-21-1070-01A-01D-1521-08 TCGA-21-1070-11A-01D-1521-08 g.chr4:4304612G>T c.1049G>T c.(1048-1050)aGc>aTc p.S350I LUSC 4 4314796 4314796 + Missense_Mutation SNP G G A TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr4:4314796G>A c.1331G>A c.(1330-1332)cGg>cAg p.R444Q LUSC 4 4322746 4322746 + Missense_Mutation SNP G G T TCGA-18-3421-01A-01D-0983-08 TCGA-18-3421-11A-01D-0983-08 g.chr4:4322746G>T c.2001G>T c.(1999-2001)caG>caT p.Q667H OV 4 4304434 4304434 + Missense_Mutation SNP G G C TCGA-13-0920-01A-01W-0421-09 TCGA-13-0920-10A-01W-0421-09 g.chr4:4304434G>C c.871G>C c.(871-873)Gac>Cac p.D291H PRAD 4 4317416 4317416 + Missense_Mutation SNP A A G TCGA-4L-AA1F-01A-11D-A41K-08 TCGA-4L-AA1F-10A-01D-A41N-08 g.chr4:4317416A>G c.1430A>G c.(1429-1431)aAa>aGa p.K477R READ 4 4303787 4303787 + Missense_Mutation SNP T T C TCGA-F5-6812-01A-11D-1826-10 TCGA-F5-6812-10A-01D-1826-10 g.chr4:4303787T>C c.224T>C c.(223-225)aTa>aCa p.I75T SKCM 4 4303919 4303919 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr4:4303919C>T c.356C>T c.(355-357)tCa>tTa p.S119L SKCM 4 4304110 4304110 + Missense_Mutation SNP C C T TCGA-EE-A2M6-06A-12D-A197-08 TCGA-EE-A2M6-10A-01D-A199-08 g.chr4:4304110C>T c.547C>T c.(547-549)Cgt>Tgt p.R183C SKCM 4 4322407 4322407 + Silent SNP C C T TCGA-FR-A44A-06A-11D-A24R-08 TCGA-FR-A44A-10A-01D-A24R-08 g.chr4:4322407C>T c.1662C>T c.(1660-1662)gtC>gtT p.V554V SKCM 4 4322648 4322648 + Missense_Mutation SNP C C T TCGA-DA-A1I4-06A-11D-A196-08 TCGA-DA-A1I4-10A-01D-A198-08 g.chr4:4322648C>T c.1903C>T c.(1903-1905)Cac>Tac p.H635Y

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 4 4303822 4303822 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BLCA-CN 4 4303822 4303822 single base substitution C G exon_variant BLCA-CN 4 4303822 4303822 single base substitution C G intron_variant BLCA-CN 4 4303822 4303822 single base substitution C G missense_variant L87V 259C>G BLCA-CN 4 4303822 4303822 single base substitution C G upstream_gene_variant BLCA-CN 4 4317689 4317689 single base substitution C G 3_prime_UTR_variant BLCA-CN 4 4317689 4317689 single base substitution C G intron_variant BLCA-CN 4 4317689 4317689 single base substitution C G missense_variant S21C 62C>G BLCA-CN 4 4317689 4317689 single base substitution C G missense_variant S538C 1613C>G BLCA-US 4 4301680 4301680 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 4 4301680 4301680 single base substitution C T exon_variant BLCA-US 4 4301680 4301680 single base substitution C T missense_variant P3L 8C>T BLCA-US 4 4301680 4301680 single base substitution C T upstream_gene_variant BLCA-US 4 4303908 4303908 single base substitution A T 5_prime_UTR_variant BLCA-US 4 4303908 4303908 single base substitution A T exon_variant BLCA-US 4 4303908 4303908 single base substitution A T intron_variant BLCA-US 4 4303908 4303908 single base substitution A T synonymous_variant T115T 345A>T BLCA-US 4 4303908 4303908 single base substitution A T upstream_gene_variant BLCA-US 4 4314802 4314802 single base substitution C G 3_prime_UTR_variant BLCA-US 4 4314802 4314802 single base substitution C G intron_variant BLCA-US 4 4314802 4314802 single base substitution C G missense_variant S446C 1337C>G BLCA-US 4 4317400 4317400 single base substitution A T 3_prime_UTR_variant BLCA-US 4 4317400 4317400 single base substitution A T 5_prime_UTR_variant BLCA-US 4 4317400 4317400 single base substitution A T exon_variant BLCA-US 4 4317400 4317400 single base substitution A T intron_variant BLCA-US 4 4317400 4317400 single base substitution A T missense_variant I472F 1414A>T BLCA-US 4 4322918 4322918 single base substitution G A 3_prime_UTR_variant BLCA-US 4 4322918 4322918 single base substitution G A downstream_gene_variant BLCA-US 4 4322918 4322918 single base substitution G A missense_variant D208N 622G>A BLCA-US 4 4322918 4322918 single base substitution G A missense_variant D603N 1807G>A BLCA-US 4 4322918 4322918 single base substitution G A missense_variant D725N 2173G>A BRCA-EU 4 4287682 4287682 single base substitution A G upstream_gene_variant BRCA-EU 4 4291279 4291279 single base substitution T C upstream_gene_variant BRCA-EU 4 4291556 4291556 single base substitution G T upstream_gene_variant BRCA-EU 4 4292000 4292000 single base substitution C T 5_prime_UTR_variant BRCA-EU 4 4292019 4292019 single base substitution G A 5_prime_UTR_variant BRCA-EU 4 4292172 4292172 single base substitution G A intron_variant BRCA-EU 4 4292306 4292306 single base substitution G T intron_variant BRCA-EU 4 4293677 4293677 single base substitution G A intron_variant BRCA-EU 4 4296339 4296339 single base substitution C A intron_variant BRCA-EU 4 4299593 4299593 single base substitution A T intron_variant BRCA-EU 4 4299593 4299593 single base substitution A T upstream_gene_variant BRCA-EU 4 4301661 4301661 single base substitution G C 5_prime_UTR_variant BRCA-EU 4 4301661 4301661 single base substitution G C upstream_gene_variant BRCA-EU 4 4301810 4301810 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 4 4301810 4301810 single base substitution C G exon_variant BRCA-EU 4 4301810 4301810 single base substitution C G missense_variant F46L 138C>G BRCA-EU 4 4301810 4301810 single base substitution C G upstream_gene_variant BRCA-EU 4 4303182 4303182 deletion of <=200bp T - intron_variant BRCA-EU 4 4303182 4303182 deletion of <=200bp T - upstream_gene_variant BRCA-EU 4 4303310 4303310 single base substitution T G intron_variant BRCA-EU 4 4303310 4303310 single base substitution T G upstream_gene_variant BRCA-EU 4 4303623 4303623 single base substitution A G intron_variant BRCA-EU 4 4303623 4303623 single base substitution A G upstream_gene_variant BRCA-EU 4 4304256 4304256 single base substitution C T 5_prime_UTR_variant BRCA-EU 4 4304256 4304256 single base substitution C T downstream_gene_variant BRCA-EU 4 4304256 4304256 single base substitution C T exon_variant BRCA-EU 4 4304256 4304256 single base substitution C T synonymous_variant P231P 693C>T BRCA-EU 4 4304256 4304256 single base substitution C T upstream_gene_variant BRCA-EU 4 4305241 4305241 single base substitution G A downstream_gene_variant BRCA-EU 4 4305241 4305241 single base substitution G A intron_variant BRCA-EU 4 4305334 4305334 single base substitution C T downstream_gene_variant BRCA-EU 4 4305334 4305334 single base substitution C T intron_variant BRCA-EU 4 4306109 4306109 single base substitution A G downstream_gene_variant BRCA-EU 4 4306109 4306109 single base substitution A G intron_variant BRCA-EU 4 4307291 4307291 single base substitution A G downstream_gene_variant BRCA-EU 4 4307291 4307291 single base substitution A G intron_variant BRCA-EU 4 4307962 4307962 deletion of <=200bp T - downstream_gene_variant BRCA-EU 4 4307962 4307962 deletion of <=200bp T - intron_variant BRCA-EU 4 4308307 4308307 deletion of <=200bp A - downstream_gene_variant BRCA-EU 4 4308307 4308307 deletion of <=200bp A - intron_variant BRCA-EU 4 4309974 4309974 single base substitution T G intron_variant BRCA-EU 4 4310516 4310516 single base substitution G T intron_variant BRCA-EU 4 4311476 4311476 single base substitution G A intron_variant BRCA-EU 4 4312503 4312526 deletion of <=200bp CCCAAAGTGCTGGGATTACGGGCA - intron_variant BRCA-EU 4 4313032 4313032 single base substitution G A intron_variant BRCA-EU 4 4314708 4314708 single base substitution A G intron_variant BRCA-EU 4 4315811 4315811 single base substitution G C intron_variant BRCA-EU 4 4316108 4316108 single base substitution A T intron_variant BRCA-EU 4 4316598 4316608 deletion of <=200bp TGGCAGTGTTG - intron_variant BRCA-EU 4 4317080 4317080 single base substitution G C intron_variant BRCA-EU 4 4317199 4317199 single base substitution G A intron_variant BRCA-EU 4 4317837 4317837 deletion of <=200bp T - intron_variant BRCA-EU 4 4318695 4318695 single base substitution G C intron_variant BRCA-EU 4 4319544 4319544 single base substitution A G intron_variant BRCA-EU 4 4323052 4323052 single base substitution G C 3_prime_UTR_variant BRCA-EU 4 4323052 4323052 single base substitution G C downstream_gene_variant BRCA-EU 4 4323779 4323779 single base substitution G A downstream_gene_variant BRCA-EU 4 4324073 4324073 single base substitution C T downstream_gene_variant BRCA-EU 4 4325216 4325216 single base substitution A T downstream_gene_variant BRCA-EU 4 4326504 4326504 single base substitution C G downstream_gene_variant BRCA-EU 4 4328479 4328479 single base substitution C G downstream_gene_variant BRCA-FR 4 4305334 4305334 single base substitution C T downstream_gene_variant BRCA-FR 4 4305334 4305334 single base substitution C T intron_variant BRCA-FR 4 4313300 4313300 single base substitution G T intron_variant BRCA-KR 4 4303748 4303748 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant BRCA-KR 4 4303748 4303748 single base substitution A T exon_variant BRCA-KR 4 4303748 4303748 single base substitution A T intron_variant BRCA-KR 4 4303748 4303748 single base substitution A T missense_variant N62I 185A>T BRCA-KR 4 4303748 4303748 single base substitution A T upstream_gene_variant BRCA-US 4 4301738 4301738 single base substitution C T 5_prime_UTR_variant BRCA-US 4 4301738 4301738 single base substitution C T exon_variant BRCA-US 4 4301738 4301738 single base substitution C T synonymous_variant G22G 66C>T BRCA-US 4 4301738 4301738 single base substitution C T upstream_gene_variant BRCA-US 4 4304255 4304255 single base substitution C A 5_prime_UTR_variant BRCA-US 4 4304255 4304255 single base substitution C A downstream_gene_variant BRCA-US 4 4304255 4304255 single base substitution C A exon_variant BRCA-US 4 4304255 4304255 single base substitution C A missense_variant P231H 692C>A BRCA-US 4 4304255 4304255 single base substitution C A upstream_gene_variant BRCA-US 4 4314784 4314784 single base substitution C G 3_prime_UTR_variant BRCA-US 4 4314784 4314784 single base substitution C G intron_variant BRCA-US 4 4314784 4314784 single base substitution C G missense_variant T440S 1319C>G BRCA-US 4 4317653 4317653 single base substitution G T 3_prime_UTR_variant BRCA-US 4 4317653 4317653 single base substitution G T intron_variant BRCA-US 4 4317653 4317653 single base substitution G T missense_variant R526I 1577G>T BRCA-US 4 4317653 4317653 single base substitution G T missense_variant R9I 26G>T BRCA-US 4 4317658 4317658 single base substitution C T 3_prime_UTR_variant BRCA-US 4 4317658 4317658 single base substitution C T intron_variant BRCA-US 4 4317658 4317658 single base substitution C T missense_variant R11W 31C>T BRCA-US 4 4317658 4317658 single base substitution C T missense_variant R528W 1582C>T BRCA-US 4 4322987 4322987 single base substitution A T 3_prime_UTR_variant BRCA-US 4 4322987 4322987 single base substitution A T downstream_gene_variant BRCA-US 4 4322987 4322987 single base substitution A T missense_variant T231S 691A>T BRCA-US 4 4322987 4322987 single base substitution A T missense_variant T626S 1876A>T BRCA-US 4 4322987 4322987 single base substitution A T missense_variant T748S 2242A>T BTCA-JP 4 4322665 4322665 single base substitution T C 3_prime_UTR_variant BTCA-JP 4 4322665 4322665 single base substitution T C downstream_gene_variant BTCA-JP 4 4322665 4322665 single base substitution T C synonymous_variant S123S 369T>C BTCA-JP 4 4322665 4322665 single base substitution T C synonymous_variant S518S 1554T>C BTCA-JP 4 4322665 4322665 single base substitution T C synonymous_variant S640S 1920T>C BTCA-JP 4 4322966 4322966 single base substitution G A 3_prime_UTR_variant BTCA-JP 4 4322966 4322966 single base substitution G A downstream_gene_variant BTCA-JP 4 4322966 4322966 single base substitution G A missense_variant G224S 670G>A BTCA-JP 4 4322966 4322966 single base substitution G A missense_variant G619S 1855G>A BTCA-JP 4 4322966 4322966 single base substitution G A missense_variant G741S 2221G>A CESC-US 4 4322678 4322678 single base substitution G A 3_prime_UTR_variant CESC-US 4 4322678 4322678 single base substitution G A downstream_gene_variant CESC-US 4 4322678 4322678 single base substitution G A missense_variant D128N 382G>A CESC-US 4 4322678 4322678 single base substitution G A missense_variant D523N 1567G>A CESC-US 4 4322678 4322678 single base substitution G A missense_variant D645N 1933G>A CLLE-ES 4 4294094 4294094 single base substitution G A intron_variant CLLE-ES 4 4304070 4304070 single base substitution G T 5_prime_UTR_variant CLLE-ES 4 4304070 4304070 single base substitution G T downstream_gene_variant CLLE-ES 4 4304070 4304070 single base substitution G T exon_variant CLLE-ES 4 4304070 4304070 single base substitution G T synonymous_variant T169T 507G>T CLLE-ES 4 4304070 4304070 single base substitution G T upstream_gene_variant COAD-US 4 4304240 4304240 single base substitution A G 5_prime_UTR_variant COAD-US 4 4304240 4304240 single base substitution A G downstream_gene_variant COAD-US 4 4304240 4304240 single base substitution A G exon_variant COAD-US 4 4304240 4304240 single base substitution A G missense_variant K226R 677A>G COAD-US 4 4304240 4304240 single base substitution A G upstream_gene_variant COAD-US 4 4304524 4304524 single base substitution G T 3_prime_UTR_variant COAD-US 4 4304524 4304524 single base substitution G T 5_prime_UTR_variant COAD-US 4 4304524 4304524 single base substitution G T downstream_gene_variant COAD-US 4 4304524 4304524 single base substitution G T exon_variant COAD-US 4 4304524 4304524 single base substitution G T missense_variant A321S 961G>T COAD-US 4 4304524 4304524 single base substitution G T missense_variant A57S 169G>T COAD-US 4 4317591 4317591 single base substitution A C 3_prime_UTR_variant COAD-US 4 4317591 4317591 single base substitution A C 5_prime_UTR_variant COAD-US 4 4317591 4317591 single base substitution A C intron_variant COAD-US 4 4317591 4317591 single base substitution A C missense_variant K505N 1515A>C COCA-CN 4 4303834 4303834 single base substitution C T 5_prime_UTR_variant COCA-CN 4 4303834 4303834 single base substitution C T exon_variant COCA-CN 4 4303834 4303834 single base substitution C T intron_variant COCA-CN 4 4303834 4303834 single base substitution C T stop_gained Q91* 271C>T COCA-CN 4 4303834 4303834 single base substitution C T upstream_gene_variant COCA-CN 4 4303941 4303941 single base substitution T C 5_prime_UTR_variant COCA-CN 4 4303941 4303941 single base substitution T C exon_variant COCA-CN 4 4303941 4303941 single base substitution T C intron_variant COCA-CN 4 4303941 4303941 single base substitution T C synonymous_variant P126P 378T>C COCA-CN 4 4303941 4303941 single base substitution T C upstream_gene_variant COCA-CN 4 4304122 4304122 single base substitution G A 5_prime_UTR_variant COCA-CN 4 4304122 4304122 single base substitution G A downstream_gene_variant COCA-CN 4 4304122 4304122 single base substitution G A exon_variant COCA-CN 4 4304122 4304122 single base substitution G A missense_variant A187T 559G>A COCA-CN 4 4304122 4304122 single base substitution G A upstream_gene_variant COCA-CN 4 4314707 4314707 single base substitution T C intron_variant COCA-CN 4 4315010 4315010 single base substitution C T intron_variant COCA-CN 4 4317378 4317378 single base substitution C T 3_prime_UTR_variant COCA-CN 4 4317378 4317378 single base substitution C T 5_prime_UTR_variant COCA-CN 4 4317378 4317378 single base substitution C T exon_variant COCA-CN 4 4317378 4317378 single base substitution C T intron_variant COCA-CN 4 4317378 4317378 single base substitution C T synonymous_variant G464G 1392C>T COCA-CN 4 4317442 4317442 single base substitution C T 3_prime_UTR_variant COCA-CN 4 4317442 4317442 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 4 4317442 4317442 single base substitution C T exon_variant COCA-CN 4 4317442 4317442 single base substitution C T intron_variant COCA-CN 4 4317442 4317442 single base substitution C T stop_gained R486* 1456C>T COCA-CN 4 4322275 4322275 single base substitution A G intron_variant COCA-CN 4 4322396 4322396 single base substitution C T 3_prime_UTR_variant COCA-CN 4 4322396 4322396 single base substitution C T missense_variant R165C 493C>T COCA-CN 4 4322396 4322396 single base substitution C T missense_variant R34C 100C>T COCA-CN 4 4322396 4322396 single base substitution C T missense_variant R429C 1285C>T COCA-CN 4 4322396 4322396 single base substitution C T missense_variant R551C 1651C>T COCA-CN 4 4322465 4322465 single base substitution C T 3_prime_UTR_variant COCA-CN 4 4322465 4322465 single base substitution C T downstream_gene_variant COCA-CN 4 4322465 4322465 single base substitution C T missense_variant R452C 1354C>T COCA-CN 4 4322465 4322465 single base substitution C T missense_variant R574C 1720C>T COCA-CN 4 4322465 4322465 single base substitution C T missense_variant R57C 169C>T EOPC-DE 4 4307963 4307963 single base substitution T C downstream_gene_variant EOPC-DE 4 4307963 4307963 single base substitution T C intron_variant EOPC-DE 4 4324774 4324774 single base substitution G A downstream_gene_variant ESAD-UK 4 4294870 4294870 single base substitution T A intron_variant ESAD-UK 4 4297009 4297009 single base substitution C T intron_variant ESAD-UK 4 4297374 4297374 single base substitution T A intron_variant ESAD-UK 4 4299352 4299352 single base substitution A G intron_variant ESAD-UK 4 4299832 4299832 single base substitution A G intron_variant ESAD-UK 4 4299832 4299832 single base substitution A G upstream_gene_variant ESAD-UK 4 4301538 4301539 deletion of <=200bp GA - intron_variant ESAD-UK 4 4301538 4301539 deletion of <=200bp GA - upstream_gene_variant ESAD-UK 4 4303093 4303093 single base substitution T C intron_variant ESAD-UK 4 4303093 4303093 single base substitution T C upstream_gene_variant ESAD-UK 4 4303457 4303457 single base substitution T G intron_variant ESAD-UK 4 4303457 4303457 single base substitution T G upstream_gene_variant ESAD-UK 4 4304362 4304362 single base substitution G A 3_prime_UTR_variant ESAD-UK 4 4304362 4304362 single base substitution G A 5_prime_UTR_variant ESAD-UK 4 4304362 4304362 single base substitution G A downstream_gene_variant ESAD-UK 4 4304362 4304362 single base substitution G A exon_variant ESAD-UK 4 4304362 4304362 single base substitution G A missense_variant E267K 799G>A ESAD-UK 4 4304362 4304362 single base substitution G A missense_variant E3K 7G>A ESAD-UK 4 4304362 4304362 single base substitution G A upstream_gene_variant ESAD-UK 4 4308495 4308495 single base substitution C G downstream_gene_variant ESAD-UK 4 4308495 4308495 single base substitution C G intron_variant ESAD-UK 4 4308684 4308684 single base substitution G A downstream_gene_variant ESAD-UK 4 4308684 4308684 single base substitution G A intron_variant ESAD-UK 4 4308702 4308702 single base substitution C T downstream_gene_variant ESAD-UK 4 4308702 4308702 single base substitution C T intron_variant ESAD-UK 4 4311349 4311349 single base substitution C T intron_variant ESAD-UK 4 4312973 4312973 single base substitution A G intron_variant ESAD-UK 4 4313396 4313396 single base substitution A G intron_variant ESAD-UK 4 4315955 4315955 single base substitution C A intron_variant ESAD-UK 4 4316695 4316695 single base substitution C A intron_variant ESAD-UK 4 4317170 4317170 single base substitution C T intron_variant ESAD-UK 4 4321772 4321772 deletion of <=200bp T - intron_variant ESAD-UK 4 4323054 4323054 single base substitution T A 3_prime_UTR_variant ESAD-UK 4 4323054 4323054 single base substitution T A downstream_gene_variant ESAD-UK 4 4323486 4323486 single base substitution C T 3_prime_UTR_variant ESAD-UK 4 4323486 4323486 single base substitution C T downstream_gene_variant ESAD-UK 4 4323572 4323572 single base substitution C G downstream_gene_variant ESAD-UK 4 4323835 4323835 single base substitution C T downstream_gene_variant ESAD-UK 4 4324470 4324470 single base substitution C A downstream_gene_variant ESAD-UK 4 4325279 4325279 single base substitution C A downstream_gene_variant ESAD-UK 4 4325312 4325312 single base substitution C T downstream_gene_variant ESCA-CN 4 4304573 4304573 single base substitution T C 3_prime_UTR_variant ESCA-CN 4 4304573 4304573 single base substitution T C 5_prime_UTR_variant ESCA-CN 4 4304573 4304573 single base substitution T C downstream_gene_variant ESCA-CN 4 4304573 4304573 single base substitution T C exon_variant ESCA-CN 4 4304573 4304573 single base substitution T C missense_variant L337S 1010T>C ESCA-CN 4 4304573 4304573 single base substitution T C missense_variant L73S 218T>C ESCA-CN 4 4317643 4317643 single base substitution G A 3_prime_UTR_variant ESCA-CN 4 4317643 4317643 single base substitution G A intron_variant ESCA-CN 4 4317643 4317643 single base substitution G A missense_variant V523I 1567G>A ESCA-CN 4 4317643 4317643 single base substitution G A missense_variant V6I 16G>A GACA-CN 4 4322503 4322503 single base substitution C A 3_prime_UTR_variant GACA-CN 4 4322503 4322503 single base substitution C A downstream_gene_variant GACA-CN 4 4322503 4322503 single base substitution C A stop_gained C464* 1392C>A GACA-CN 4 4322503 4322503 single base substitution C A stop_gained C586* 1758C>A GACA-CN 4 4322503 4322503 single base substitution C A stop_gained C69* 207C>A KIRC-US 4 4303969 4303969 single base substitution C T 5_prime_UTR_variant KIRC-US 4 4303969 4303969 single base substitution C T exon_variant KIRC-US 4 4303969 4303969 single base substitution C T intron_variant KIRC-US 4 4303969 4303969 single base substitution C T synonymous_variant L136L 406C>T KIRC-US 4 4303969 4303969 single base substitution C T upstream_gene_variant KIRC-US 4 4304210 4304210 single base substitution T G 5_prime_UTR_variant KIRC-US 4 4304210 4304210 single base substitution T G downstream_gene_variant KIRC-US 4 4304210 4304210 single base substitution T G exon_variant KIRC-US 4 4304210 4304210 single base substitution T G missense_variant L216R 647T>G KIRC-US 4 4304210 4304210 single base substitution T G upstream_gene_variant KIRC-US 4 4322531 4322531 single base substitution C A 3_prime_UTR_variant KIRC-US 4 4322531 4322531 single base substitution C A downstream_gene_variant KIRC-US 4 4322531 4322531 single base substitution C A missense_variant L474M 1420C>A KIRC-US 4 4322531 4322531 single base substitution C A missense_variant L596M 1786C>A KIRC-US 4 4322531 4322531 single base substitution C A missense_variant L79M 235C>A KIRP-US 4 4322599 4322599 single base substitution C A 3_prime_UTR_variant KIRP-US 4 4322599 4322599 single base substitution C A downstream_gene_variant KIRP-US 4 4322599 4322599 single base substitution C A synonymous_variant S101S 303C>A KIRP-US 4 4322599 4322599 single base substitution C A synonymous_variant S496S 1488C>A KIRP-US 4 4322599 4322599 single base substitution C A synonymous_variant S618S 1854C>A LAML-KR 4 4304605 4304605 single base substitution G A 3_prime_UTR_variant LAML-KR 4 4304605 4304605 single base substitution G A 5_prime_UTR_variant LAML-KR 4 4304605 4304605 single base substitution G A downstream_gene_variant LAML-KR 4 4304605 4304605 single base substitution G A exon_variant LAML-KR 4 4304605 4304605 single base substitution G A missense_variant A348T 1042G>A LAML-KR 4 4304605 4304605 single base substitution G A missense_variant A84T 250G>A LAML-KR 4 4305513 4305513 single base substitution A C downstream_gene_variant LAML-KR 4 4305513 4305513 single base substitution A C intron_variant LGG-US 4 4304568 4304568 single base substitution G A 3_prime_UTR_variant LGG-US 4 4304568 4304568 single base substitution G A 5_prime_UTR_variant LGG-US 4 4304568 4304568 single base substitution G A downstream_gene_variant LGG-US 4 4304568 4304568 single base substitution G A exon_variant LGG-US 4 4304568 4304568 single base substitution G A synonymous_variant K335K 1005G>A LGG-US 4 4304568 4304568 single base substitution G A synonymous_variant K71K 213G>A LICA-FR 4 4299411 4299411 single base substitution G A intron_variant LICA-FR 4 4299411 4299411 single base substitution G A upstream_gene_variant LICA-FR 4 4305133 4305133 single base substitution A G downstream_gene_variant LICA-FR 4 4305133 4305133 single base substitution A G intron_variant LICA-FR 4 4322717 4322717 single base substitution A G 3_prime_UTR_variant LICA-FR 4 4322717 4322717 single base substitution A G downstream_gene_variant LICA-FR 4 4322717 4322717 single base substitution A G missense_variant M141V 421A>G LICA-FR 4 4322717 4322717 single base substitution A G missense_variant M536V 1606A>G LICA-FR 4 4322717 4322717 single base substitution A G missense_variant M658V 1972A>G LIHC-US 4 4303971 4303971 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant LIHC-US 4 4303971 4303971 single base substitution A G exon_variant LIHC-US 4 4303971 4303971 single base substitution A G intron_variant LIHC-US 4 4303971 4303971 single base substitution A G synonymous_variant L136L 408A>G LIHC-US 4 4303971 4303971 single base substitution A G upstream_gene_variant LIHC-US 4 4304686 4304686 single base substitution A G 3_prime_UTR_variant LIHC-US 4 4304686 4304686 single base substitution A G 5_prime_UTR_variant LIHC-US 4 4304686 4304686 single base substitution A G downstream_gene_variant LIHC-US 4 4304686 4304686 single base substitution A G exon_variant LIHC-US 4 4304686 4304686 single base substitution A G missense_variant R111G 331A>G LIHC-US 4 4304686 4304686 single base substitution A G missense_variant R375G 1123A>G LINC-JP 4 4307888 4307888 single base substitution A G downstream_gene_variant LINC-JP 4 4307888 4307888 single base substitution A G intron_variant LINC-JP 4 4307888 4307888 single base substitution A G missense_variant I427V 1279A>G LINC-JP 4 4309440 4309440 single base substitution T C intron_variant LINC-JP 4 4323911 4323911 single base substitution G A downstream_gene_variant LIRI-JP 4 4288561 4288561 single base substitution A C upstream_gene_variant LIRI-JP 4 4288920 4288920 single base substitution G A upstream_gene_variant LIRI-JP 4 4289001 4289001 single base substitution T C upstream_gene_variant LIRI-JP 4 4289643 4289643 single base substitution A G upstream_gene_variant LIRI-JP 4 4292130 4292130 single base substitution G T intron_variant LIRI-JP 4 4292390 4292390 single base substitution C T intron_variant LIRI-JP 4 4292433 4292433 single base substitution G T intron_variant LIRI-JP 4 4292538 4292538 single base substitution C G intron_variant LIRI-JP 4 4292874 4292874 single base substitution A G intron_variant LIRI-JP 4 4294872 4294872 single base substitution C A intron_variant LIRI-JP 4 4298783 4298783 single base substitution T G intron_variant LIRI-JP 4 4299427 4299427 single base substitution G T intron_variant LIRI-JP 4 4299427 4299427 single base substitution G T upstream_gene_variant LIRI-JP 4 4299464 4299464 single base substitution G C intron_variant LIRI-JP 4 4299464 4299464 single base substitution G C upstream_gene_variant LIRI-JP 4 4299465 4299465 single base substitution C T intron_variant LIRI-JP 4 4299465 4299465 single base substitution C T upstream_gene_variant LIRI-JP 4 4300503 4300503 deletion of <=200bp T - intron_variant LIRI-JP 4 4300503 4300503 deletion of <=200bp T - upstream_gene_variant LIRI-JP 4 4301351 4301351 single base substitution A G intron_variant LIRI-JP 4 4301351 4301351 single base substitution A G upstream_gene_variant LIRI-JP 4 4306058 4306058 single base substitution T C downstream_gene_variant LIRI-JP 4 4306058 4306058 single base substitution T C intron_variant LIRI-JP 4 4306126 4306126 single base substitution G C downstream_gene_variant LIRI-JP 4 4306126 4306126 single base substitution G C intron_variant LIRI-JP 4 4306739 4306744 deletion of <=200bp TTAGTC - downstream_gene_variant LIRI-JP 4 4306739 4306744 deletion of <=200bp TTAGTC - intron_variant LIRI-JP 4 4306908 4306908 single base substitution A G downstream_gene_variant LIRI-JP 4 4306908 4306908 single base substitution A G intron_variant LIRI-JP 4 4307358 4307358 single base substitution G T downstream_gene_variant LIRI-JP 4 4307358 4307358 single base substitution G T intron_variant LIRI-JP 4 4307491 4307491 single base substitution G A downstream_gene_variant LIRI-JP 4 4307491 4307491 single base substitution G A intron_variant LIRI-JP 4 4313542 4313542 single base substitution A G intron_variant LIRI-JP 4 4314437 4314437 single base substitution T G intron_variant LIRI-JP 4 4316895 4316895 single base substitution G C intron_variant LIRI-JP 4 4316938 4316938 single base substitution T C intron_variant LIRI-JP 4 4320013 4320013 single base substitution A G intron_variant LIRI-JP 4 4321284 4321284 single base substitution A G intron_variant LIRI-JP 4 4321967 4321967 single base substitution T C intron_variant LIRI-JP 4 4322153 4322153 deletion of <=200bp A - intron_variant LIRI-JP 4 4325509 4325509 single base substitution C T downstream_gene_variant LIRI-JP 4 4326315 4326315 single base substitution C G downstream_gene_variant LIRI-JP 4 4327443 4327443 single base substitution A G downstream_gene_variant LUSC-KR 4 4288168 4288168 single base substitution G A upstream_gene_variant LUSC-KR 4 4288194 4288194 single base substitution T A upstream_gene_variant LUSC-KR 4 4288233 4288233 single base substitution A G upstream_gene_variant LUSC-KR 4 4288442 4288442 single base substitution T C upstream_gene_variant LUSC-KR 4 4291825 4291825 single base substitution C T upstream_gene_variant LUSC-KR 4 4291832 4291832 single base substitution A T upstream_gene_variant LUSC-KR 4 4300987 4300987 single base substitution C T intron_variant LUSC-KR 4 4300987 4300987 single base substitution C T upstream_gene_variant LUSC-KR 4 4304337 4304337 single base substitution C T 3_prime_UTR_variant LUSC-KR 4 4304337 4304337 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 4 4304337 4304337 single base substitution C T downstream_gene_variant LUSC-KR 4 4304337 4304337 single base substitution C T exon_variant LUSC-KR 4 4304337 4304337 single base substitution C T synonymous_variant A258A 774C>T LUSC-KR 4 4304337 4304337 single base substitution C T upstream_gene_variant LUSC-KR 4 4304522 4304522 single base substitution A C 3_prime_UTR_variant LUSC-KR 4 4304522 4304522 single base substitution A C 5_prime_UTR_variant LUSC-KR 4 4304522 4304522 single base substitution A C downstream_gene_variant LUSC-KR 4 4304522 4304522 single base substitution A C exon_variant LUSC-KR 4 4304522 4304522 single base substitution A C missense_variant Y320S 959A>C LUSC-KR 4 4304522 4304522 single base substitution A C missense_variant Y56S 167A>C LUSC-KR 4 4312323 4312323 single base substitution A C intron_variant LUSC-KR 4 4313882 4313882 single base substitution A G intron_variant LUSC-KR 4 4316919 4316919 single base substitution C G intron_variant LUSC-KR 4 4319565 4319565 single base substitution A G intron_variant LUSC-KR 4 4321664 4321664 single base substitution A G intron_variant LUSC-KR 4 4323875 4323875 single base substitution G T downstream_gene_variant LUSC-US 4 4303783 4303783 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant LUSC-US 4 4303783 4303783 single base substitution G T exon_variant LUSC-US 4 4303783 4303783 single base substitution G T intron_variant LUSC-US 4 4303783 4303783 single base substitution G T missense_variant G74C 220G>T LUSC-US 4 4303783 4303783 single base substitution G T upstream_gene_variant LUSC-US 4 4304558 4304558 single base substitution G A 3_prime_UTR_variant LUSC-US 4 4304558 4304558 single base substitution G A 5_prime_UTR_variant LUSC-US 4 4304558 4304558 single base substitution G A downstream_gene_variant LUSC-US 4 4304558 4304558 single base substitution G A exon_variant LUSC-US 4 4304558 4304558 single base substitution G A missense_variant G332D 995G>A LUSC-US 4 4304558 4304558 single base substitution G A missense_variant G68D 203G>A LUSC-US 4 4304612 4304612 single base substitution G T 3_prime_UTR_variant LUSC-US 4 4304612 4304612 single base substitution G T 5_prime_UTR_variant LUSC-US 4 4304612 4304612 single base substitution G T downstream_gene_variant LUSC-US 4 4304612 4304612 single base substitution G T exon_variant LUSC-US 4 4304612 4304612 single base substitution G T missense_variant S350I 1049G>T LUSC-US 4 4304612 4304612 single base substitution G T missense_variant S86I 257G>T LUSC-US 4 4314796 4314796 single base substitution G A 3_prime_UTR_variant LUSC-US 4 4314796 4314796 single base substitution G A intron_variant LUSC-US 4 4314796 4314796 single base substitution G A missense_variant R444Q 1331G>A LUSC-US 4 4322746 4322746 single base substitution G T 3_prime_UTR_variant LUSC-US 4 4322746 4322746 single base substitution G T downstream_gene_variant LUSC-US 4 4322746 4322746 single base substitution G T missense_variant Q150H 450G>T LUSC-US 4 4322746 4322746 single base substitution G T missense_variant Q545H 1635G>T LUSC-US 4 4322746 4322746 single base substitution G T missense_variant Q667H 2001G>T MALY-DE 4 4304643 4304643 single base substitution A C 3_prime_UTR_variant MALY-DE 4 4304643 4304643 single base substitution A C 5_prime_UTR_variant MALY-DE 4 4304643 4304643 single base substitution A C downstream_gene_variant MALY-DE 4 4304643 4304643 single base substitution A C exon_variant MALY-DE 4 4304643 4304643 single base substitution A C missense_variant E360D 1080A>C MALY-DE 4 4304643 4304643 single base substitution A C missense_variant E96D 288A>C MALY-DE 4 4304926 4304926 single base substitution T C downstream_gene_variant MALY-DE 4 4304926 4304926 single base substitution T C intron_variant MALY-DE 4 4311366 4311366 single base substitution T C intron_variant MALY-DE 4 4318174 4318174 single base substitution C T intron_variant MALY-DE 4 4323780 4323780 single base substitution T C downstream_gene_variant MELA-AU 4 4288467 4288467 single base substitution G A upstream_gene_variant MELA-AU 4 4288834 4288834 single base substitution A C upstream_gene_variant MELA-AU 4 4289200 4289200 single base substitution G A upstream_gene_variant MELA-AU 4 4289488 4289488 single base substitution G A upstream_gene_variant MELA-AU 4 4289692 4289692 single base substitution G A upstream_gene_variant MELA-AU 4 4289728 4289728 single base substitution G A upstream_gene_variant MELA-AU 4 4291727 4291728 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 4 4291918 4291918 single base substitution C T upstream_gene_variant MELA-AU 4 4291925 4291925 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 4 4291925 4291925 single base substitution G T upstream_gene_variant MELA-AU 4 4291943 4291943 single base substitution G A 5_prime_UTR_variant MELA-AU 4 4291943 4291943 single base substitution G A upstream_gene_variant MELA-AU 4 4291950 4291950 single base substitution G A 5_prime_UTR_variant MELA-AU 4 4291950 4291950 single base substitution G A upstream_gene_variant MELA-AU 4 4293681 4293681 single base substitution C T intron_variant MELA-AU 4 4294057 4294057 single base substitution C T intron_variant MELA-AU 4 4294679 4294679 single base substitution C T intron_variant MELA-AU 4 4294784 4294784 single base substitution T G intron_variant MELA-AU 4 4295145 4295145 single base substitution C T intron_variant MELA-AU 4 4295269 4295269 single base substitution C T intron_variant MELA-AU 4 4295301 4295301 single base substitution C T intron_variant MELA-AU 4 4295405 4295406 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 4295726 4295726 single base substitution C G intron_variant MELA-AU 4 4295745 4295745 single base substitution C T intron_variant MELA-AU 4 4295822 4295822 single base substitution G T intron_variant MELA-AU 4 4296114 4296114 single base substitution C T intron_variant MELA-AU 4 4296285 4296285 single base substitution T C intron_variant MELA-AU 4 4296659 4296659 single base substitution C T intron_variant MELA-AU 4 4298021 4298022 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 4298765 4298765 single base substitution T C intron_variant MELA-AU 4 4299176 4299176 single base substitution C T intron_variant MELA-AU 4 4299655 4299655 single base substitution G T intron_variant MELA-AU 4 4299655 4299655 single base substitution G T upstream_gene_variant MELA-AU 4 4300649 4300649 single base substitution C T intron_variant MELA-AU 4 4300649 4300649 single base substitution C T upstream_gene_variant MELA-AU 4 4301537 4301537 single base substitution T A intron_variant MELA-AU 4 4301537 4301537 single base substitution T A upstream_gene_variant MELA-AU 4 4301539 4301539 single base substitution A T intron_variant MELA-AU 4 4301539 4301539 single base substitution A T upstream_gene_variant MELA-AU 4 4302173 4302174 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 4 4302173 4302174 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 4 4302438 4302438 single base substitution T C intron_variant MELA-AU 4 4302438 4302438 single base substitution T C upstream_gene_variant MELA-AU 4 4302607 4302607 single base substitution T C intron_variant MELA-AU 4 4302607 4302607 single base substitution T C upstream_gene_variant MELA-AU 4 4303556 4303556 single base substitution G A intron_variant MELA-AU 4 4303556 4303556 single base substitution G A upstream_gene_variant MELA-AU 4 4303759 4303759 single base substitution C T 5_prime_UTR_variant MELA-AU 4 4303759 4303759 single base substitution C T exon_variant MELA-AU 4 4303759 4303759 single base substitution C T intron_variant MELA-AU 4 4303759 4303759 single base substitution C T missense_variant H66Y 196C>T MELA-AU 4 4303759 4303759 single base substitution C T upstream_gene_variant MELA-AU 4 4304064 4304064 single base substitution C T 5_prime_UTR_variant MELA-AU 4 4304064 4304064 single base substitution C T downstream_gene_variant MELA-AU 4 4304064 4304064 single base substitution C T exon_variant MELA-AU 4 4304064 4304064 single base substitution C T synonymous_variant N167N 501C>T MELA-AU 4 4304064 4304064 single base substitution C T upstream_gene_variant MELA-AU 4 4304110 4304110 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 4 4304110 4304110 single base substitution C T downstream_gene_variant MELA-AU 4 4304110 4304110 single base substitution C T exon_variant MELA-AU 4 4304110 4304110 single base substitution C T missense_variant R183C 547C>T MELA-AU 4 4304110 4304110 single base substitution C T upstream_gene_variant MELA-AU 4 4305321 4305322 multiple base substitution (>=2bp and <=200bp) TT CC downstream_gene_variant MELA-AU 4 4305321 4305322 multiple base substitution (>=2bp and <=200bp) TT CC intron_variant MELA-AU 4 4305721 4305721 single base substitution C T downstream_gene_variant MELA-AU 4 4305721 4305721 single base substitution C T intron_variant MELA-AU 4 4306412 4306412 single base substitution C T downstream_gene_variant MELA-AU 4 4306412 4306412 single base substitution C T intron_variant MELA-AU 4 4306485 4306485 single base substitution C T downstream_gene_variant MELA-AU 4 4306485 4306485 single base substitution C T intron_variant MELA-AU 4 4306605 4306605 single base substitution C T downstream_gene_variant MELA-AU 4 4306605 4306605 single base substitution C T intron_variant MELA-AU 4 4307397 4307397 single base substitution C T downstream_gene_variant MELA-AU 4 4307397 4307397 single base substitution C T intron_variant MELA-AU 4 4307538 4307538 single base substitution C T downstream_gene_variant MELA-AU 4 4307538 4307538 single base substitution C T intron_variant MELA-AU 4 4308119 4308119 single base substitution C T downstream_gene_variant MELA-AU 4 4308119 4308119 single base substitution C T intron_variant MELA-AU 4 4308135 4308135 single base substitution C T downstream_gene_variant MELA-AU 4 4308135 4308135 single base substitution C T intron_variant MELA-AU 4 4308593 4308593 single base substitution G A downstream_gene_variant MELA-AU 4 4308593 4308593 single base substitution G A intron_variant MELA-AU 4 4311982 4311982 single base substitution C T intron_variant MELA-AU 4 4312523 4312523 single base substitution G A intron_variant MELA-AU 4 4313905 4313905 single base substitution C T intron_variant MELA-AU 4 4314129 4314129 single base substitution C T intron_variant MELA-AU 4 4314188 4314188 single base substitution C T intron_variant MELA-AU 4 4314611 4314611 single base substitution C T intron_variant MELA-AU 4 4314694 4314694 single base substitution C T intron_variant MELA-AU 4 4316222 4316222 single base substitution C T intron_variant MELA-AU 4 4316295 4316295 single base substitution C G intron_variant MELA-AU 4 4316945 4316945 single base substitution C T intron_variant MELA-AU 4 4316965 4316965 single base substitution C T intron_variant MELA-AU 4 4317418 4317418 single base substitution C T 3_prime_UTR_variant MELA-AU 4 4317418 4317418 single base substitution C T 5_prime_UTR_variant MELA-AU 4 4317418 4317418 single base substitution C T exon_variant MELA-AU 4 4317418 4317418 single base substitution C T intron_variant MELA-AU 4 4317418 4317418 single base substitution C T missense_variant P478S 1432C>T MELA-AU 4 4318202 4318202 single base substitution G A intron_variant MELA-AU 4 4318733 4318733 single base substitution G A intron_variant MELA-AU 4 4318911 4318911 single base substitution C T intron_variant MELA-AU 4 4319539 4319539 single base substitution C T intron_variant MELA-AU 4 4319629 4319629 single base substitution G T intron_variant MELA-AU 4 4319660 4319660 single base substitution C T intron_variant MELA-AU 4 4319733 4319733 single base substitution G A intron_variant MELA-AU 4 4319803 4319803 single base substitution C T intron_variant MELA-AU 4 4319990 4319990 single base substitution C T intron_variant MELA-AU 4 4321156 4321156 single base substitution C T intron_variant MELA-AU 4 4322082 4322082 single base substitution C T intron_variant MELA-AU 4 4322407 4322407 single base substitution C T 3_prime_UTR_variant MELA-AU 4 4322407 4322407 single base substitution C T synonymous_variant V168V 504C>T MELA-AU 4 4322407 4322407 single base substitution C T synonymous_variant V37V 111C>T MELA-AU 4 4322407 4322407 single base substitution C T synonymous_variant V432V 1296C>T MELA-AU 4 4322407 4322407 single base substitution C T synonymous_variant V554V 1662C>T MELA-AU 4 4323247 4323247 single base substitution C T 3_prime_UTR_variant MELA-AU 4 4323247 4323247 single base substitution C T downstream_gene_variant MELA-AU 4 4323302 4323302 single base substitution C T 3_prime_UTR_variant MELA-AU 4 4323302 4323302 single base substitution C T downstream_gene_variant MELA-AU 4 4323759 4323759 single base substitution C T downstream_gene_variant MELA-AU 4 4324148 4324148 single base substitution C T downstream_gene_variant MELA-AU 4 4324165 4324165 single base substitution C T downstream_gene_variant MELA-AU 4 4324292 4324292 single base substitution C G downstream_gene_variant MELA-AU 4 4325378 4325379 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 4 4325814 4325814 single base substitution C T downstream_gene_variant MELA-AU 4 4326301 4326301 single base substitution C T downstream_gene_variant MELA-AU 4 4326427 4326427 single base substitution C T downstream_gene_variant MELA-AU 4 4327680 4327680 single base substitution G A downstream_gene_variant MELA-AU 4 4327766 4327766 single base substitution T C downstream_gene_variant MELA-AU 4 4328115 4328115 single base substitution T G downstream_gene_variant ORCA-IN 4 4288526 4288526 single base substitution A G upstream_gene_variant ORCA-IN 4 4300709 4300709 single base substitution G A intron_variant ORCA-IN 4 4300709 4300709 single base substitution G A upstream_gene_variant ORCA-IN 4 4303897 4303897 single base substitution C G 5_prime_UTR_variant ORCA-IN 4 4303897 4303897 single base substitution C G exon_variant ORCA-IN 4 4303897 4303897 single base substitution C G intron_variant ORCA-IN 4 4303897 4303897 single base substitution C G missense_variant L112V 334C>G ORCA-IN 4 4303897 4303897 single base substitution C G upstream_gene_variant ORCA-IN 4 4304623 4304623 single base substitution G A 3_prime_UTR_variant ORCA-IN 4 4304623 4304623 single base substitution G A 5_prime_UTR_variant ORCA-IN 4 4304623 4304623 single base substitution G A downstream_gene_variant ORCA-IN 4 4304623 4304623 single base substitution G A exon_variant ORCA-IN 4 4304623 4304623 single base substitution G A missense_variant E354K 1060G>A ORCA-IN 4 4304623 4304623 single base substitution G A missense_variant E90K 268G>A OV-AU 4 4290131 4290131 single base substitution T C upstream_gene_variant OV-AU 4 4291761 4291761 single base substitution A C upstream_gene_variant OV-AU 4 4296687 4296687 single base substitution T G intron_variant OV-AU 4 4318771 4318771 single base substitution T A intron_variant OV-AU 4 4320831 4320831 single base substitution G T intron_variant OV-AU 4 4325498 4325498 single base substitution T G downstream_gene_variant OV-US 4 4304434 4304434 single base substitution G C 3_prime_UTR_variant OV-US 4 4304434 4304434 single base substitution G C 5_prime_UTR_variant OV-US 4 4304434 4304434 single base substitution G C downstream_gene_variant OV-US 4 4304434 4304434 single base substitution G C exon_variant OV-US 4 4304434 4304434 single base substitution G C missense_variant D27H 79G>C OV-US 4 4304434 4304434 single base substitution G C missense_variant D291H 871G>C OV-US 4 4304434 4304434 single base substitution G C upstream_gene_variant PACA-AU 4 4294539 4294539 single base substitution T C intron_variant PACA-AU 4 4294809 4294809 single base substitution C G intron_variant PACA-AU 4 4308453 4308453 single base substitution G A downstream_gene_variant PACA-AU 4 4308453 4308453 single base substitution G A intron_variant PACA-AU 4 4322260 4322260 single base substitution G T intron_variant PACA-AU 4 4324073 4324073 single base substitution C T downstream_gene_variant PACA-AU 4 4324633 4324633 single base substitution C T downstream_gene_variant PACA-CA 4 4293900 4293900 single base substitution C T intron_variant PACA-CA 4 4295231 4295231 single base substitution C A intron_variant PACA-CA 4 4300951 4300951 single base substitution C T intron_variant PACA-CA 4 4300951 4300951 single base substitution C T upstream_gene_variant PACA-CA 4 4301074 4301074 single base substitution C G intron_variant PACA-CA 4 4301074 4301074 single base substitution C G upstream_gene_variant PACA-CA 4 4302481 4302481 single base substitution C T intron_variant PACA-CA 4 4302481 4302481 single base substitution C T upstream_gene_variant PACA-CA 4 4307251 4307251 single base substitution G A downstream_gene_variant PACA-CA 4 4307251 4307251 single base substitution G A intron_variant PACA-CA 4 4308003 4308003 single base substitution G A downstream_gene_variant PACA-CA 4 4308003 4308003 single base substitution G A intron_variant PACA-CA 4 4308696 4308696 single base substitution A C downstream_gene_variant PACA-CA 4 4308696 4308696 single base substitution A C intron_variant PACA-CA 4 4309634 4309634 single base substitution T C intron_variant PACA-CA 4 4312706 4312706 single base substitution G C intron_variant PACA-CA 4 4319863 4319863 single base substitution G C intron_variant PACA-CA 4 4320084 4320084 single base substitution T A intron_variant PACA-CA 4 4322465 4322465 single base substitution C T 3_prime_UTR_variant PACA-CA 4 4322465 4322465 single base substitution C T downstream_gene_variant PACA-CA 4 4322465 4322465 single base substitution C T missense_variant R452C 1354C>T PACA-CA 4 4322465 4322465 single base substitution C T missense_variant R574C 1720C>T PACA-CA 4 4322465 4322465 single base substitution C T missense_variant R57C 169C>T PACA-CA 4 4325911 4325911 single base substitution G T downstream_gene_variant PACA-CA 4 4326508 4326508 single base substitution T A downstream_gene_variant PAEN-AU 4 4302191 4302191 single base substitution A T intron_variant PAEN-AU 4 4302191 4302191 single base substitution A T upstream_gene_variant PAEN-AU 4 4318319 4318319 single base substitution G C intron_variant PAEN-IT 4 4297100 4297100 single base substitution G T intron_variant PAEN-IT 4 4323691 4323691 single base substitution G T downstream_gene_variant PBCA-DE 4 4301641 4301641 single base substitution T C intron_variant PBCA-DE 4 4301641 4301641 single base substitution T C upstream_gene_variant PBCA-DE 4 4311771 4311771 single base substitution C T intron_variant PRAD-CA 4 4291082 4291082 single base substitution G A upstream_gene_variant PRAD-CA 4 4322228 4322228 single base substitution G A intron_variant PRAD-UK 4 4293816 4293816 single base substitution A T intron_variant PRAD-UK 4 4305488 4305488 insertion of <=200bp - TCTCTCTCTGTGTGTGTGTG downstream_gene_variant PRAD-UK 4 4305488 4305488 insertion of <=200bp - TCTCTCTCTGTGTGTGTGTG intron_variant PRAD-UK 4 4305497 4305497 insertion of <=200bp - TGTGTGTGTGTGTGTCTC downstream_gene_variant PRAD-UK 4 4305497 4305497 insertion of <=200bp - TGTGTGTGTGTGTGTCTC intron_variant READ-US 4 4303787 4303787 single base substitution T C 5_prime_UTR_variant READ-US 4 4303787 4303787 single base substitution T C exon_variant READ-US 4 4303787 4303787 single base substitution T C intron_variant READ-US 4 4303787 4303787 single base substitution T C missense_variant I75T 224T>C READ-US 4 4303787 4303787 single base substitution T C upstream_gene_variant READ-US 4 4304391 4304391 single base substitution C T 3_prime_UTR_variant READ-US 4 4304391 4304391 single base substitution C T 5_prime_UTR_variant READ-US 4 4304391 4304391 single base substitution C T downstream_gene_variant READ-US 4 4304391 4304391 single base substitution C T exon_variant READ-US 4 4304391 4304391 single base substitution C T synonymous_variant F12F 36C>T READ-US 4 4304391 4304391 single base substitution C T synonymous_variant F276F 828C>T READ-US 4 4304391 4304391 single base substitution C T upstream_gene_variant RECA-EU 4 4296604 4296604 single base substitution G A intron_variant RECA-EU 4 4297209 4297209 single base substitution G C intron_variant RECA-EU 4 4300487 4300487 single base substitution A T intron_variant RECA-EU 4 4300487 4300487 single base substitution A T upstream_gene_variant RECA-EU 4 4304215 4304215 single base substitution A C 5_prime_UTR_variant RECA-EU 4 4304215 4304215 single base substitution A C downstream_gene_variant RECA-EU 4 4304215 4304215 single base substitution A C exon_variant RECA-EU 4 4304215 4304215 single base substitution A C missense_variant N218H 652A>C RECA-EU 4 4304215 4304215 single base substitution A C upstream_gene_variant RECA-EU 4 4309136 4309136 single base substitution T A intron_variant RECA-EU 4 4310502 4310502 single base substitution G T intron_variant RECA-EU 4 4314787 4314787 single base substitution A C 3_prime_UTR_variant RECA-EU 4 4314787 4314787 single base substitution A C intron_variant RECA-EU 4 4314787 4314787 single base substitution A C missense_variant H441P 1322A>C RECA-EU 4 4325878 4325878 single base substitution T G downstream_gene_variant RECA-EU 4 4327779 4327779 single base substitution G C downstream_gene_variant SKCA-BR 4 4287552 4287552 single base substitution G A upstream_gene_variant SKCA-BR 4 4287920 4287920 single base substitution G A upstream_gene_variant SKCA-BR 4 4288630 4288630 single base substitution G A upstream_gene_variant SKCA-BR 4 4288634 4288635 deletion of <=200bp TC - upstream_gene_variant SKCA-BR 4 4289421 4289421 single base substitution T C upstream_gene_variant SKCA-BR 4 4289442 4289442 single base substitution A C upstream_gene_variant SKCA-BR 4 4291920 4291920 single base substitution C T upstream_gene_variant SKCA-BR 4 4293622 4293622 single base substitution C T intron_variant SKCA-BR 4 4295946 4295946 single base substitution C T intron_variant SKCA-BR 4 4296599 4296599 insertion of <=200bp - CGTGTAT intron_variant SKCA-BR 4 4296600 4296600 insertion of <=200bp - GTGTA intron_variant SKCA-BR 4 4296604 4296604 single base substitution G A intron_variant SKCA-BR 4 4297015 4297015 single base substitution G A intron_variant SKCA-BR 4 4300649 4300649 single base substitution C T intron_variant SKCA-BR 4 4300649 4300649 single base substitution C T upstream_gene_variant SKCA-BR 4 4301503 4301503 insertion of <=200bp - GTTGTGT intron_variant SKCA-BR 4 4301503 4301503 insertion of <=200bp - GTTGTGT upstream_gene_variant SKCA-BR 4 4301504 4301504 single base substitution G T intron_variant SKCA-BR 4 4301504 4301504 single base substitution G T upstream_gene_variant SKCA-BR 4 4301506 4301506 single base substitution G T intron_variant SKCA-BR 4 4301506 4301506 single base substitution G T upstream_gene_variant SKCA-BR 4 4303317 4303317 single base substitution G C intron_variant SKCA-BR 4 4303317 4303317 single base substitution G C upstream_gene_variant SKCA-BR 4 4306779 4306779 single base substitution C T downstream_gene_variant SKCA-BR 4 4306779 4306779 single base substitution C T intron_variant SKCA-BR 4 4316259 4316259 single base substitution C A intron_variant SKCA-BR 4 4319804 4319804 single base substitution C T intron_variant SKCA-BR 4 4320617 4320617 insertion of <=200bp - TA intron_variant SKCM-US 4 4303919 4303919 single base substitution C T 5_prime_UTR_variant SKCM-US 4 4303919 4303919 single base substitution C T exon_variant SKCM-US 4 4303919 4303919 single base substitution C T intron_variant SKCM-US 4 4303919 4303919 single base substitution C T missense_variant S119L 356C>T SKCM-US 4 4303919 4303919 single base substitution C T upstream_gene_variant SKCM-US 4 4304110 4304110 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 4 4304110 4304110 single base substitution C T downstream_gene_variant SKCM-US 4 4304110 4304110 single base substitution C T exon_variant SKCM-US 4 4304110 4304110 single base substitution C T missense_variant R183C 547C>T SKCM-US 4 4304110 4304110 single base substitution C T upstream_gene_variant SKCM-US 4 4322395 4322395 single base substitution C T 3_prime_UTR_variant SKCM-US 4 4322395 4322395 single base substitution C T synonymous_variant L164L 492C>T SKCM-US 4 4322395 4322395 single base substitution C T synonymous_variant L33L 99C>T SKCM-US 4 4322395 4322395 single base substitution C T synonymous_variant L428L 1284C>T SKCM-US 4 4322395 4322395 single base substitution C T synonymous_variant L550L 1650C>T SKCM-US 4 4322407 4322407 single base substitution C T 3_prime_UTR_variant SKCM-US 4 4322407 4322407 single base substitution C T synonymous_variant V168V 504C>T SKCM-US 4 4322407 4322407 single base substitution C T synonymous_variant V37V 111C>T SKCM-US 4 4322407 4322407 single base substitution C T synonymous_variant V432V 1296C>T SKCM-US 4 4322407 4322407 single base substitution C T synonymous_variant V554V 1662C>T SKCM-US 4 4322648 4322648 single base substitution C T 3_prime_UTR_variant SKCM-US 4 4322648 4322648 single base substitution C T downstream_gene_variant SKCM-US 4 4322648 4322648 single base substitution C T missense_variant H118Y 352C>T SKCM-US 4 4322648 4322648 single base substitution C T missense_variant H513Y 1537C>T SKCM-US 4 4322648 4322648 single base substitution C T missense_variant H635Y 1903C>T SKCM-US 4 4322723 4322723 single base substitution C T 3_prime_UTR_variant SKCM-US 4 4322723 4322723 single base substitution C T downstream_gene_variant SKCM-US 4 4322723 4322723 single base substitution C T stop_gained Q143* 427C>T SKCM-US 4 4322723 4322723 single base substitution C T stop_gained Q538* 1612C>T SKCM-US 4 4322723 4322723 single base substitution C T stop_gained Q660* 1978C>T STAD-US 4 4301776 4301776 single base substitution G T 5_prime_UTR_variant STAD-US 4 4301776 4301776 single base substitution G T exon_variant STAD-US 4 4301776 4301776 single base substitution G T missense_variant C35F 104G>T STAD-US 4 4301776 4301776 single base substitution G T upstream_gene_variant STAD-US 4 4303731 4303731 single base substitution T A 5_prime_UTR_variant STAD-US 4 4303731 4303731 single base substitution T A exon_variant STAD-US 4 4303731 4303731 single base substitution T A intron_variant STAD-US 4 4303731 4303731 single base substitution T A missense_variant N56K 168T>A STAD-US 4 4303731 4303731 single base substitution T A upstream_gene_variant STAD-US 4 4303754 4303754 deletion of <=200bp T - 5_prime_UTR_variant STAD-US 4 4303754 4303754 deletion of <=200bp T - exon_variant STAD-US 4 4303754 4303754 deletion of <=200bp T - frameshift_variant V64 STAD-US 4 4303754 4303754 deletion of <=200bp T - intron_variant STAD-US 4 4303754 4303754 deletion of <=200bp T - upstream_gene_variant STAD-US 4 4304082 4304082 single base substitution G A 5_prime_UTR_variant STAD-US 4 4304082 4304082 single base substitution G A downstream_gene_variant STAD-US 4 4304082 4304082 single base substitution G A exon_variant STAD-US 4 4304082 4304082 single base substitution G A synonymous_variant S173S 519G>A STAD-US 4 4304082 4304082 single base substitution G A upstream_gene_variant STAD-US 4 4304473 4304473 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 4 4304473 4304473 deletion of <=200bp A - 5_prime_UTR_variant STAD-US 4 4304473 4304473 deletion of <=200bp A - downstream_gene_variant STAD-US 4 4304473 4304473 deletion of <=200bp A - exon_variant STAD-US 4 4304473 4304473 deletion of <=200bp A - frameshift_variant K304 STAD-US 4 4304473 4304473 deletion of <=200bp A - frameshift_variant K40 STAD-US 4 4304670 4304670 single base substitution C T 3_prime_UTR_variant STAD-US 4 4304670 4304670 single base substitution C T 5_prime_UTR_variant STAD-US 4 4304670 4304670 single base substitution C T downstream_gene_variant STAD-US 4 4304670 4304670 single base substitution C T exon_variant STAD-US 4 4304670 4304670 single base substitution C T synonymous_variant C105C 315C>T STAD-US 4 4304670 4304670 single base substitution C T synonymous_variant C369C 1107C>T STAD-US 4 4304738 4304739 deletion of <=200bp AG - 3_prime_UTR_variant STAD-US 4 4304738 4304739 deletion of <=200bp AG - 5_prime_UTR_variant STAD-US 4 4304738 4304739 deletion of <=200bp AG - downstream_gene_variant STAD-US 4 4304738 4304739 deletion of <=200bp AG - exon_variant STAD-US 4 4304738 4304739 deletion of <=200bp AG - frameshift_variant Q128 STAD-US 4 4304738 4304739 deletion of <=200bp AG - frameshift_variant Q392 STAD-US 4 4322409 4322409 single base substitution G A 3_prime_UTR_variant STAD-US 4 4322409 4322409 single base substitution G A missense_variant R169H 506G>A STAD-US 4 4322409 4322409 single base substitution G A missense_variant R38H 113G>A STAD-US 4 4322409 4322409 single base substitution G A missense_variant R433H 1298G>A STAD-US 4 4322409 4322409 single base substitution G A missense_variant R555H 1664G>A STAD-US 4 4322608 4322608 single base substitution G A 3_prime_UTR_variant STAD-US 4 4322608 4322608 single base substitution G A downstream_gene_variant STAD-US 4 4322608 4322608 single base substitution G A synonymous_variant T104T 312G>A STAD-US 4 4322608 4322608 single base substitution G A synonymous_variant T499T 1497G>A STAD-US 4 4322608 4322608 single base substitution G A synonymous_variant T621T 1863G>A THCA-SA 4 4291825 4291825 single base substitution C T upstream_gene_variant THCA-SA 4 4291832 4291832 single base substitution A T upstream_gene_variant THCA-SA 4 4304522 4304522 single base substitution A C 3_prime_UTR_variant THCA-SA 4 4304522 4304522 single base substitution A C 5_prime_UTR_variant THCA-SA 4 4304522 4304522 single base substitution A C downstream_gene_variant THCA-SA 4 4304522 4304522 single base substitution A C exon_variant THCA-SA 4 4304522 4304522 single base substitution A C missense_variant Y320S 959A>C THCA-SA 4 4304522 4304522 single base substitution A C missense_variant Y56S 167A>C THCA-US 4 4322849 4322849 single base substitution G A 3_prime_UTR_variant THCA-US 4 4322849 4322849 single base substitution G A downstream_gene_variant THCA-US 4 4322849 4322849 single base substitution G A missense_variant E185K 553G>A THCA-US 4 4322849 4322849 single base substitution G A missense_variant E580K 1738G>A THCA-US 4 4322849 4322849 single base substitution G A missense_variant E702K 2104G>A UCEC-US 4 4303733 4303733 single base substitution C A 5_prime_UTR_variant UCEC-US 4 4303733 4303733 single base substitution C A exon_variant UCEC-US 4 4303733 4303733 single base substitution C A intron_variant UCEC-US 4 4303733 4303733 single base substitution C A missense_variant S57Y 170C>A UCEC-US 4 4303733 4303733 single base substitution C A upstream_gene_variant UCEC-US 4 4303869 4303869 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 4 4303869 4303869 single base substitution G T exon_variant UCEC-US 4 4303869 4303869 single base substitution G T intron_variant UCEC-US 4 4303869 4303869 single base substitution G T missense_variant Q102H 306G>T UCEC-US 4 4303869 4303869 single base substitution G T upstream_gene_variant UCEC-US 4 4304162 4304162 single base substitution G A 5_prime_UTR_variant UCEC-US 4 4304162 4304162 single base substitution G A downstream_gene_variant UCEC-US 4 4304162 4304162 single base substitution G A exon_variant UCEC-US 4 4304162 4304162 single base substitution G A missense_variant G200D 599G>A UCEC-US 4 4304162 4304162 single base substitution G A upstream_gene_variant UCEC-US 4 4304229 4304229 single base substitution G T 5_prime_UTR_variant UCEC-US 4 4304229 4304229 single base substitution G T downstream_gene_variant UCEC-US 4 4304229 4304229 single base substitution G T exon_variant UCEC-US 4 4304229 4304229 single base substitution G T missense_variant K222N 666G>T UCEC-US 4 4304229 4304229 single base substitution G T upstream_gene_variant UCEC-US 4 4304245 4304245 single base substitution G A 5_prime_UTR_variant UCEC-US 4 4304245 4304245 single base substitution G A downstream_gene_variant UCEC-US 4 4304245 4304245 single base substitution G A exon_variant UCEC-US 4 4304245 4304245 single base substitution G A missense_variant A228T 682G>A UCEC-US 4 4304245 4304245 single base substitution G A upstream_gene_variant UCEC-US 4 4317547 4317547 single base substitution T C 3_prime_UTR_variant UCEC-US 4 4317547 4317547 single base substitution T C 5_prime_UTR_variant UCEC-US 4 4317547 4317547 single base substitution T C exon_variant UCEC-US 4 4317547 4317547 single base substitution T C intron_variant UCEC-US 4 4317547 4317547 single base substitution T C missense_variant F491L 1471T>C UCEC-US 4 4317658 4317658 single base substitution C T 3_prime_UTR_variant UCEC-US 4 4317658 4317658 single base substitution C T intron_variant UCEC-US 4 4317658 4317658 single base substitution C T missense_variant R11W 31C>T UCEC-US 4 4317658 4317658 single base substitution C T missense_variant R528W 1582C>T UCEC-US 4 4322727 4322727 single base substitution C A 3_prime_UTR_variant UCEC-US 4 4322727 4322727 single base substitution C A downstream_gene_variant UCEC-US 4 4322727 4322727 single base substitution C A missense_variant P144H 431C>A UCEC-US 4 4322727 4322727 single base substitution C A missense_variant P539H 1616C>A UCEC-US 4 4322727 4322727 single base substitution C A missense_variant P661H 1982C>A UCEC-US 4 4322891 4322891 single base substitution C T 3_prime_UTR_variant UCEC-US 4 4322891 4322891 single base substitution C T downstream_gene_variant UCEC-US 4 4322891 4322891 single base substitution C T synonymous_variant L199L 595C>T UCEC-US 4 4322891 4322891 single base substitution C T synonymous_variant L594L 1780C>T UCEC-US 4 4322891 4322891 single base substitution C T synonymous_variant L716L 2146C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand sysucc-1163T COSM5459110 c.1651C>T p.R551C Substitution - Missense 4:4320669-4320669 + SNUH_G16_S1 COSM4003087 c.1042G>A p.A348T Substitution - Missense 4:4302878-4302878 + tumor_4105746 COSM5946549 c.1080A>C p.E360D Substitution - Missense 4:4302916-4302916 + LUAD-NYU201 COSM371424 c.2119G>C p.D707H Substitution - Missense 4:4321137-4321137 + T3090 COSM2847997 c.961G>A p.A321T Substitution - Missense 4:4302797-4302797 + TCGA-AP-A059-01 COSM1055552 c.1471T>C p.F491L Substitution - Missense 4:4315820-4315820 + TCGA-DZ-6133-01 COSM3993682 c.1854C>A p.S618S Substitution - coding silent 4:4320872-4320872 + TCGA-AR-A24H-01 COSM1485971 c.2242A>T p.T748S Substitution - Missense 4:4321260-4321260 + HCC2998 COSM2847985 c.380G>A p.G127D Substitution - Missense 4:4302216-4302216 + HCC113 COSM1618851 c.1279A>G p.I427V Substitution - Missense 4:4306161-4306161 + TCGA-AA-A010-01 COSM286628 c.627G>A p.Q209Q Substitution - coding silent 4:4302463-4302463 + TCGA-B5-A11E-01 COSM1055556 c.2146C>T p.L716L Substitution - coding silent 4:4321164-4321164 + TCGA-G4-6588-01 COSM1429808 c.677A>G p.K226R Substitution - Missense 4:4302513-4302513 + S01453 COSM316828 c.1434A>G p.P478P Substitution - coding silent 4:4315693-4315693 + CSB12 COSM5026120 c.873C>T p.D291D Substitution - coding silent 4:4302709-4302709 + CHC301T COSM3669281 c.1972A>G p.M658V Substitution - Missense 4:4320990-4320990 + TCGA-AN-A046-01 COSM1055553 c.1582C>T p.R528W Substitution - Missense 4:4315931-4315931 + pfg143T COSM4746539 c.191delT p.H66fs*10 Deletion - Frameshift 4:4302027-4302027 + HT115 COSM2848025 c.1947C>T p.G649G Substitution - coding silent 4:4320965-4320965 + TCGA-H4-A2HQ-01 COSM1310073 c.1337C>G p.S446C Substitution - Missense 4:4313075-4313075 + OSCC-GB_00020111 COSM3714922 c.334C>G p.L112V Substitution - Missense 4:4302170-4302170 + S01516 COSM5669165 c.1843G>T p.D615Y Substitution - Missense 4:4320861-4320861 + YURAY COSM5401227 c.942C>T p.F314F Substitution - coding silent 4:4302778-4302778 + TCGA-AZ-4615-01 COSM3696661 c.1515A>C p.K505N Substitution - Missense 4:4315864-4315864 + STC232 COSM2847987 c.559G>A p.A187T Substitution - Missense 4:4302395-4302395 + YUTUCO COSM3604027 c.1903C>T p.H635Y Substitution - Missense 4:4320921-4320921 + LUAD-S00484 COSM343047 c.1342G>A p.E448K Substitution - Missense 4:4313080-4313080 + TCGA-DK-A1AC-01 COSM1310072 c.345A>T p.T115T Substitution - coding silent 4:4302181-4302181 + S00339 COSM5657379 c.2239A>G p.M747V Substitution - Missense 4:4321257-4321257 + TCGA-BT-A20T-01 COSM420585 c.1414A>T p.I472F Substitution - Missense 4:4315673-4315673 + 587256 COSM1233166 c.2104G>A p.E702K Substitution - Missense 4:4321122-4321122 + UM-SCC-11B COSM4597739 c.1354A>G p.I452V Substitution - Missense 4:4313092-4313092 + LUAD-S01409 COSM346751 c.900G>T p.Q300H Substitution - Missense 4:4302736-4302736 + TCGA-B5-A11E-01 COSM1055547 c.599G>A p.G200D Substitution - Missense 4:4302435-4302435 + 2492702 COSM5730140 c.1004_1005insG p.R336fs*6 Insertion - Frameshift 4:4302840-4302841 + GC1_T COSM149630 c.1758C>A p.C586* Substitution - Nonsense 4:4320776-4320776 + TCGA-EE-A2M6-06 COSM3604024 c.547C>T p.R183C Substitution - Missense 4:4302383-4302383 + OSCC-GB_00600111 COSM4890102 c.1060G>A p.E354K Substitution - Missense 4:4302896-4302896 + SJOS003_D COSM5023178 c.76G>A p.D26N Substitution - Missense 4:4300021-4300021 + TCGA-A3-3372-01 COSM1495772 c.2037G>A p.K679K Substitution - coding silent 4:4321055-4321055 + sysucc-1370T COSM5471890 c.1392C>T p.G464G Substitution - coding silent 4:4315651-4315651 + C0068T COSM4153478 c.652A>C p.N218H Substitution - Missense 4:4302488-4302488 + LP6005500-DNA_G03 COSM5035132 c.799G>A p.E267K Substitution - Missense 4:4302635-4302635 + Au2 COSM5600875 c.1005delG p.R336fs*10 Deletion - Frameshift 4:4302841-4302841 + TCGA-D8-A142-01 COSM447880 c.1319C>G p.T440S Substitution - Missense 4:4313057-4313057 + ESCC_BICR_045T COSM5441737 c.1010T>C p.L337S Substitution - Missense 4:4302846-4302846 + TCGA-GN-A263-01 COSM3604025 c.1650C>T p.L550L Substitution - coding silent 4:4320668-4320668 + SNUH_G45_S1 COSM4003086 c.959A>C p.Y320S Substitution - Missense 4:4302795-4302795 + HCC113T COSM1618851 c.1279A>G p.I427V Substitution - Missense 4:4306161-4306161 + TCGA-FR-A44A-06 COSM3604026 c.1662C>T p.V554V Substitution - coding silent 4:4320680-4320680 + STC232 COSM5060364 c.895A>G p.K299E Substitution - Missense 4:4302731-4302731 + TCGA-UB-A7MB-01 COSM4931579 c.1123A>G p.R375G Substitution - Missense 4:4302959-4302959 + ESO-161 COSM1270728 c.2166C>T p.H722H Substitution - coding silent 4:4321184-4321184 + C32 COSM4619241 c.900G>C p.Q300H Substitution - Missense 4:4302736-4302736 + C058 COSM5525844 c.1426G>A p.E476K Substitution - Missense 4:4315685-4315685 + B78-Tumor COSM1753745 c.1613C>G p.S538C Substitution - Missense 4:4315962-4315962 + TCGA-DI-A0WH-01 COSM1055554 c.1599G>T p.R533R Substitution - coding silent 4:4315948-4315948 + PD7250a COSM5775239 c.693C>T p.P231P Substitution - coding silent 4:4302529-4302529 + TCGA-D7-A4YU-01 COSM4124817 c.1107C>T p.C369C Substitution - coding silent 4:4302943-4302943 + CSCC-32-T COSM4526127 c.1374G>A p.K458K Substitution - coding silent 4:4313112-4313112 + PDA_074 COSM4998872 c.1925C>T p.A642V Substitution - Missense 4:4320943-4320943 + sysucc-274T COSM5476524 c.271C>T p.Q91* Substitution - Nonsense 4:4302107-4302107 + TCGA-GC-A3RC-01 COSM3775854 c.8C>T p.P3L Substitution - Missense 4:4299953-4299953 + 151-02-8TD COSM5416212 c.507G>T p.T169T Substitution - coding silent 4:4302343-4302343 + TCGA-EI-6917-01 COSM3428522 c.828C>T p.F276F Substitution - coding silent 4:4302664-4302664 + CN-AML-CR-1-Dx COSM4003087 c.1042G>A p.A348T Substitution - Missense 4:4302878-4302878 + TCGA-DA-A1I4-06 COSM3604027 c.1903C>T p.H635Y Substitution - Missense 4:4320921-4320921 + TCGA-B5-A0JV-01 COSM1055551 c.1327C>T p.R443* Substitution - Nonsense 4:4313065-4313065 + 61 COSM5736889 c.55C>T p.R19* Substitution - Nonsense 4:4300000-4300000 + ESCC_BICR_071T COSM5433514 c.1567G>A p.V523I Substitution - Missense 4:4315916-4315916 + SNU-C2B COSM2847991 c.772G>A p.A258T Substitution - Missense 4:4302608-4302608 + 12T COSM107159 c.2144C>T p.S715F Substitution - Missense 4:4321162-4321162 + C0085T COSM4153479 c.1322A>C p.H441P Substitution - Missense 4:4313060-4313060 + TCGA-D9-A1JW-06 COSM3604028 c.1978C>T p.Q660* Substitution - Nonsense 4:4320996-4320996 + SNUH_G16_S1 COSM4003088 c.1920T>C p.S640S Substitution - coding silent 4:4320938-4320938 + QC2-39-T2 COSM5655477 c.1771G>A p.E591K Substitution - Missense 4:4320789-4320789 + TCGA-22-4599-01 COSM733390 c.220G>T p.G74C Substitution - Missense 4:4302056-4302056 + TCGA-D1-A103-01 COSM1055549 c.682G>A p.A228T Substitution - Missense 4:4302518-4302518 + 1_RESISTANT COSM1721018 c.917_918CC>TT p.A306V Substitution - Missense 4:4302753-4302754 + 2492700 COSM5730140 c.1004_1005insG p.R336fs*6 Insertion - Frameshift 4:4302840-4302841 + T2197 COSM4742204 c.2188C>T p.R730* Substitution - Nonsense 4:4321206-4321206 + ESCC_44 COSM5630152 c.23_24insC p.C9fs*9 Insertion - Frameshift 4:4299968-4299969 + TCGA-EL-A3GU-01 COSM1233166 c.2104G>A p.E702K Substitution - Missense 4:4321122-4321122 + Pat_41_B COSM5866431 c.1459+1G>A p.? Unknown 4:4315719-4315719 + TCGA-A8-A09Z-01 COSM3825883 c.692C>A p.P231H Substitution - Missense 4:4302528-4302528 + TCGA-BR-7901-01 COSM4124815 c.168T>A p.N56K Substitution - Missense 4:4302004-4302004 + sysucc-1163T COSM5119300 c.1456C>T p.R486* Substitution - Nonsense 4:4315715-4315715 + CRC-06T COSM3381019 c.1720C>T p.R574C Substitution - Missense 4:4320738-4320738 + B78 COSM1753745 c.1613C>G p.S538C Substitution - Missense 4:4315962-4315962 + PCSI_0137_Pa_X COSM3381019 c.1720C>T p.R574C Substitution - Missense 4:4320738-4320738 + TCGA-AX-A05Z-01 COSM1055553 c.1582C>T p.R528W Substitution - Missense 4:4315931-4315931 + LUAD-RT-S01813 COSM383382 c.1656G>T p.R552S Substitution - Missense 4:4320674-4320674 + CHC301T COSM3669281 c.1972A>G p.M658V Substitution - Missense 4:4320990-4320990 + TCGA-A5-A0GW-01 COSM1055550 c.1076A>G p.E359G Substitution - Missense 4:4302912-4302912 + ME009T COSM222896 c.859C>T p.H287Y Substitution - Missense 4:4302695-4302695 + TCGA-BR-4370-01 COSM4124816 c.519G>A p.S173S Substitution - coding silent 4:4302355-4302355 + KM12 COSM2848033 c.2176C>T p.P726S Substitution - Missense 4:4321194-4321194 + B109-Tumor COSM1753744 c.259C>G p.L87V Substitution - Missense 4:4302095-4302095 + S0029 COSM3381019 c.1720C>T p.R574C Substitution - Missense 4:4320738-4320738 + TCGA-FG-7636-01 COSM3974916 c.1005G>A p.K335K Substitution - coding silent 4:4302841-4302841 + TCGA-A3-3380-01 COSM1495773 c.1120G>T p.E374* Substitution - Nonsense 4:4302956-4302956 + SJOS003_D COSM5023797 c.471G>A p.L157L Substitution - coding silent 4:4302307-4302307 + TCGA-AP-A051-01 COSM1055546 c.306G>T p.Q102H Substitution - Missense 4:4302142-4302142 + TCGA-HU-A4GN-01 COSM4124818 c.1664G>A p.R555H Substitution - Missense 4:4320682-4320682 + B109 COSM1753744 c.259C>G p.L87V Substitution - Missense 4:4302095-4302095 + 2492703 COSM5730140 c.1004_1005insG p.R336fs*6 Insertion - Frameshift 4:4302840-4302841 + YUFIT COSM5401228 c.1788G>A p.L596L Substitution - coding silent 4:4320806-4320806 + PDA_016 COSM4998872 c.1925C>T p.A642V Substitution - Missense 4:4320943-4320943 + HT115 COSM2848028 c.2052G>T p.Q684H Substitution - Missense 4:4321070-4321070 + KPOPBR-36-T COSM5963464 c.185A>T p.N62I Substitution - Missense 4:4302021-4302021 + TCGA-FD-A3SO-01 COSM3775855 c.2173G>A p.D725N Substitution - Missense 4:4321191-4321191 + TCGA-AP-A059-01 COSM1055555 c.1982C>A p.P661H Substitution - Missense 4:4321000-4321000 + TCGA-A3-3380-01 COSM481285 c.1786C>A p.L596M Substitution - Missense 4:4320804-4320804 + YUKAT COSM5401229 c.1899T>A p.P633P Substitution - coding silent 4:4320917-4320917 + CSCC-49-T COSM4516172 c.1650_1651CC>TT p.R551C Substitution - Missense 4:4320668-4320669 + SNU-175 COSM2847995 c.917C>T p.A306V Substitution - Missense 4:4302753-4302753 + ESCC_10 COSM5623970 c.954G>A p.Q318Q Substitution - coding silent 4:4302790-4302790 + TCGA-AC-A23H-01 COSM3825884 c.1577G>T p.R526I Substitution - Missense 4:4315926-4315926 + SC_9094 COSM5566351 c.1597C>T p.R533W Substitution - Missense 4:4315946-4315946 + TCGA-18-3409-01 COSM733387 c.1331G>A p.R444Q Substitution - Missense 4:4313069-4313069 + PR-00-1165 COSM248415 c.1328G>A p.R443Q Substitution - Missense 4:4313066-4313066 + TCGA-B5-A11E-01 COSM1055548 c.666G>T p.K222N Substitution - Missense 4:4302502-4302502 + TCGA-21-1070-01 COSM733388 c.1049G>T p.S350I Substitution - Missense 4:4302885-4302885 + YUTEPA COSM1694099 c.746T>C p.L249P Substitution - Missense 4:4302582-4302582 + TCGA-F5-6812-01 COSM1567328 c.224T>C p.I75T Substitution - Missense 4:4302060-4302060 + TCGA-B5-A0JY-01 COSM1055545 c.170C>A p.S57Y Substitution - Missense 4:4302006-4302006 + 1_PRE-TREATMENT COSM1721018 c.917_918CC>TT p.A306V Substitution - Missense 4:4302753-4302754 + TCGA-BC-A112-01 COSM4936494 c.408A>G p.L136L Substitution - coding silent 4:4302244-4302244 + 587238 COSM1180979 c.455_456insC p.H155fs*18 Insertion - Frameshift 4:4302291-4302292 + SJOS003_D COSM5023781 c.312G>C p.L104F Substitution - Missense 4:4302148-4302148 + TCGA-EE-A3JD-06 COSM4395889 c.356C>T p.S119L Substitution - Missense 4:4302192-4302192 + SNUH_G73_S1 COSM4003089 c.2025T>C p.G675G Substitution - coding silent 4:4321043-4321043 + 2T COSM3714922 c.334C>G p.L112V Substitution - Missense 4:4302170-4302170 + TCGA-A8-A06Q-01 COSM447878 c.66C>T p.G22G Substitution - coding silent 4:4300011-4300011 + TCGA-HU-A4GU-01 COSM4124819 c.1863G>A p.T621T Substitution - coding silent 4:4320881-4320881 + TCGA-18-3421-01 COSM733386 c.2001G>T p.Q667H Substitution - Missense 4:4321019-4321019 + TCGA-22-0944-01 COSM733389 c.995G>A p.G332D Substitution - Missense 4:4302831-4302831 + TCGA-LP-A5U2-01 COSM4833940 c.1933G>A p.D645N Substitution - Missense 4:4320951-4320951 + TCGA-B0-5119-01 COSM481284 c.647T>G p.L216R Substitution - Missense 4:4302483-4302483 + YUQUEST COSM5401226 c.328C>T p.L110L Substitution - coding silent 4:4302164-4302164 + PA285 COSM1163741 c.456delC p.P154fs*99 Deletion - Frameshift 4:4302292-4302292 + Pat_41_B COSM5866429 c.754G>A p.V252I Substitution - Missense 4:4302590-4302590 + LUAD-RT-S01703 COSM379695 c.1780G>T p.D594Y Substitution - Missense 4:4320798-4320798 + S01453 COSM316828 c.1434A>G p.P478P Substitution - coding silent 4:4315693-4315693 + CSCC-20-T COSM4491120 c.374C>T p.P125L Substitution - Missense 4:4302210-4302210 + TCGA-CD-8530-01 COSM4124813 c.104G>T p.C35F Substitution - Missense 4:4300049-4300049 + TCGA-D5-6531-01 COSM3696660 c.961G>T p.A321S Substitution - Missense 4:4302797-4302797 + T2944 COSM4742203 c.1966C>T p.R656W Substitution - Missense 4:4320984-4320984 + BD119T COSM5520854 c.2221G>A p.G741S Substitution - Missense 4:4321239-4321239 + TCGA-AA-A010-01 COSM286629 c.1997A>G p.D666G Substitution - Missense 4:4321015-4321015 + ESO-D76 COSM1270729 c.1386C>T p.A462A Substitution - coding silent 4:4315645-4315645 + 2492701 COSM5730140 c.1004_1005insG p.R336fs*6 Insertion - Frameshift 4:4302840-4302841 + CSCC-17-T COSM4479699 c.234C>T p.I78I Substitution - coding silent 4:4302070-4302070 + TCGA-13-0920-01 COSM77058 c.871G>C p.D291H Substitution - Missense 4:4302707-4302707 + Pat_45_A COSM5866432 c.1810G>A p.E604K Substitution - Missense 4:4320828-4320828 + SNU-C2B COSM2848012 c.1589C>T p.T530M Substitution - Missense 4:4315938-4315938 + YUROC COSM2848031 c.2141C>T p.S714F Substitution - Missense 4:4321159-4321159 + MDA-MB-231 COSM1670875 c.1457G>A p.R486Q Substitution - Missense 4:4315716-4315716 + SNUH_G16_S1 COSM4003089 c.2025T>C p.G675G Substitution - coding silent 4:4321043-4321043 + Pat_11_A COSM5866430 c.1330C>T p.R444W Substitution - Missense 4:4313068-4313068 + sysucc-1317T COSM5449997 c.378T>C p.P126P Substitution - coding silent 4:4302214-4302214 + TCGA-CJ-5675-01 COSM481283 c.406C>T p.L136L Substitution - coding silent 4:4302242-4302242 + 585210 COSM324361 c.1285G>T p.G429W Substitution - Missense 4:4306167-4306167 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.419997 4p16.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.P478P c.1434A>G 4 4317420 SCLC A T Missense p.I472F c.1414A>T 4 4317400 BLCA A T Missense p.T748S c.2242A>T 4 4322987 BRCA C A Missense p.L596M c.1786C>A 4 4322531 RCCC C - Frameshift p.P175Rfs*78 c.524delC 4 4304086 BRCA C G Missense p.S446C c.1337C>G 4 4314802 BLCA C G Missense p.T440S c.1319C>G 4 4314784 BRCA C T 3-UTRSNV . c.2295+8C>T 4 4323048 CM C T Missense p.H287Y c.859C>T 4 4304422 CM C T Missense p.H635Y c.1903C>T 4 4322648 CM C T Missense p.R183C c.547C>T 4 4304110 CM C T Missense p.S119L c.356C>T 4 4303919 CM C T Missense p.S745F c.2234C>T 4 4322979 CM C T Nonsense p.Q660* c.1978C>T 4 4322723 CM C T Synonymous p.A462A c.1386C>T 4 4317372 ESCA C T Synonymous p.D291D c.873C>T 4 4304436 BRCA C T Synonymous p.G22G c.66C>T 4 4301738 BRCA C T Synonymous p.H722H c.2166C>T 4 4322911 ESCA C T Synonymous p.L136L c.406C>T 4 4303969 RCCC C T Synonymous p.L550L c.1650C>T 4 4322395 CM G A Missense p.E702K c.2104G>A 4 4322849 THCA G A Missense p.G332D c.995G>A 4 4304558 LUSC G A Missense p.R443Q c.1328G>A 4 4314793 HNSC G A Missense p.R574H c.1721G>A 4 4322466 BRCA G A Missense p.R730Q c.2189G>A 4 4322934 STAD G A Synonymous p.K335K c.1005G>A 4 4304568 LGG G A Synonymous p.S173S c.519G>A 4 4304082 STAD G C Missense p.D291H c.871G>C 4 4304434 OV G T Missense p.C202F c.605G>T 4 4304168 LUAD G T Missense p.G230V c.689G>T 4 4304252 LUAD G T Missense p.G429W c.1285G>T 4 4307894 SCLC G T Missense p.G74C c.220G>T 4 4303783 LUSC G T Missense p.Q667H c.2001G>T 4 4322746 LUSC G T Missense p.S350I c.1049G>T 4 4304612 LUSC T C Missense p.V4A c.11T>C 4 4301683 HNSC T G Missense p.L216R c.647T>G 4 4304210 RCCC