Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 6 109798048 109798048 + Silent SNP G G A TCGA-PK-A5HB-01A-11D-A29I-10 TCGA-PK-A5HB-11A-11D-A29L-10 g.chr6:109798048G>A c.1038C>T c.(1036-1038)ggC>ggT p.G346G BLCA 6 109802504 109802504 + Missense_Mutation SNP C C G TCGA-GV-A3JZ-01A-11D-A21A-08 TCGA-GV-A3JZ-10A-01D-A21A-08 g.chr6:109802504C>G c.726G>C c.(724-726)aaG>aaC p.K242N BLCA 6 109802512 109802512 + Missense_Mutation SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr6:109802512C>G c.718G>C c.(718-720)Gat>Cat p.D240H BLCA 6 109802545 109802545 + Missense_Mutation SNP C C T TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr6:109802545C>T c.685G>A c.(685-687)Gag>Aag p.E229K BLCA 6 109803086 109803086 + Silent SNP G G A TCGA-XF-AAMT-01A-11D-A42E-08 TCGA-XF-AAMT-10A-01D-A42H-08 g.chr6:109803086G>A c.144C>T c.(142-144)ttC>ttT p.F48F BLCA 6 109803198 109803198 + Missense_Mutation SNP T T C TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 g.chr6:109803198T>C c.32A>G c.(31-33)cAg>cGg p.Q11R BRCA 6 109787472 109787472 + Missense_Mutation SNP G G T TCGA-BH-A0DK-01A-21W-A071-09 TCGA-BH-A0DK-11A-13W-A100-09 g.chr6:109787472G>T c.1676C>A c.(1675-1677)tCt>tAt p.S559Y BRCA 6 109787658 109787658 + Nonsense_Mutation SNP A A C TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 g.chr6:109787658A>C c.1490T>G c.(1489-1491)tTa>tGa p.L497* BRCA 6 109788926 109788926 + Missense_Mutation SNP A A C TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr6:109788926A>C c.1300T>G c.(1300-1302)Ttt>Gtt p.F434V BRCA 6 109803035 109803035 + Missense_Mutation SNP C C G TCGA-A8-A07W-01A-11W-A019-09 TCGA-A8-A07W-10A-01W-A021-09 g.chr6:109803035C>G c.195G>C c.(193-195)atG>atC p.M65I BRCA 6 109803079 109803079 + Frame_Shift_Del DEL G G - TCGA-BH-A1FN-01A-11D-A13L-09 TCGA-BH-A1FN-11A-34D-A13O-09 g.chr6:109803079delG c.151delC c.(151-153)cacfs p.H51fs CESC 6 109787778 109787778 + Splice_Site SNP C C T TCGA-DG-A2KJ-01A-11D-A18J-09 TCGA-DG-A2KJ-10A-01D-A18J-09 g.chr6:109787778C>T c.e7-1 CHOL 6 109787628 109787628 + Missense_Mutation SNP G G A TCGA-3X-AAVC-01A-21D-A417-09 TCGA-3X-AAVC-10A-01D-A41A-09 g.chr6:109787628G>A c.1520C>T c.(1519-1521)gCt>gTt p.A507V COAD 6 109787262 109787262 + Missense_Mutation SNP G G A TCGA-A6-6649-01A-11D-1771-10 TCGA-A6-6649-10A-01D-1771-10 g.chr6:109787262G>A c.1886C>T c.(1885-1887)cCc>cTc p.P629L COAD 6 109787329 109787329 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:109787329G>T c.1819C>A c.(1819-1821)Ctt>Att p.L607I COAD 6 109787447 109787447 + Silent SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr6:109787447G>A c.1701C>T c.(1699-1701)ccC>ccT p.P567P COAD 6 109787672 109787672 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr6:109787672G>A c.1476C>T c.(1474-1476)tgC>tgT p.C492C COAD 6 109787678 109787678 + Missense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr6:109787678G>T c.1470C>A c.(1468-1470)ttC>ttA p.F490L COAD 6 109796639 109796639 + Silent SNP A A G TCGA-CA-6716-01A-11D-1835-10 TCGA-CA-6716-10A-01D-1835-10 g.chr6:109796639A>G c.1251T>C c.(1249-1251)gaT>gaC p.D417D COAD 6 109796639 109796639 + Silent SNP A A G TCGA-F4-6460-01A-11D-1771-10 TCGA-F4-6460-10B-01D-1771-10 g.chr6:109796639A>G c.1251T>C c.(1249-1251)gaT>gaC p.D417D COAD 6 109796640 109796640 + Missense_Mutation SNP T T C TCGA-CM-6679-01A-11D-1835-10 TCGA-CM-6679-10A-01D-1835-10 g.chr6:109796640T>C c.1250A>G c.(1249-1251)gAt>gGt p.D417G COAD 6 109796640 109796640 + Missense_Mutation SNP T T C TCGA-DM-A0XF-01A-11D-A152-10 TCGA-DM-A0XF-10A-01D-A152-10 g.chr6:109796640T>C c.1250A>G c.(1249-1251)gAt>gGt p.D417G COAD 6 109796641 109796641 + Missense_Mutation SNP C C A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr6:109796641C>A c.1249G>T c.(1249-1251)Gat>Tat p.D417Y COAD 6 109797392 109797392 + Missense_Mutation SNP T T C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr6:109797392T>C c.1190A>G c.(1189-1191)tAc>tGc p.Y397C COAD 6 109797433 109797433 + Silent SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr6:109797433G>A c.1149C>T c.(1147-1149)tgC>tgT p.C383C COAD 6 109798128 109798128 + Nonsense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr6:109798128G>A c.958C>T c.(958-960)Cga>Tga p.R320* COAD 6 109802388 109802388 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:109802388C>T c.842G>A c.(841-843)aGg>aAg p.R281K COADREAD 6 109787262 109787262 + Missense_Mutation SNP G G A TCGA-A6-6649-01A-11D-1771-10 TCGA-A6-6649-10A-01D-1771-10 g.chr6:109787262G>A c.1886C>T c.(1885-1887)cCc>cTc p.P629L COADREAD 6 109787329 109787329 + Missense_Mutation SNP G G T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:109787329G>T c.1819C>A c.(1819-1821)Ctt>Att p.L607I COADREAD 6 109787447 109787447 + Silent SNP G G A TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr6:109787447G>A c.1701C>T c.(1699-1701)ccC>ccT p.P567P COADREAD 6 109787672 109787672 + Silent SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr6:109787672G>A c.1476C>T c.(1474-1476)tgC>tgT p.C492C COADREAD 6 109787678 109787678 + Missense_Mutation SNP G G T TCGA-CA-6718-01A-11D-1835-10 TCGA-CA-6718-10A-01D-1835-10 g.chr6:109787678G>T c.1470C>A c.(1468-1470)ttC>ttA p.F490L COADREAD 6 109788857 109788857 + Splice_Site SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:109788857G>A c.1369C>T c.(1369-1371)Cga>Tga p.R457* COADREAD 6 109796613 109796613 + Missense_Mutation SNP C C T TCGA-AG-A020-01A-21W-A096-10 TCGA-AG-A020-11A-11W-A096-10 g.chr6:109796613C>T c.1277G>A c.(1276-1278)cGa>cAa p.R426Q COADREAD 6 109796639 109796639 + Silent SNP A A G TCGA-CA-6716-01A-11D-1835-10 TCGA-CA-6716-10A-01D-1835-10 g.chr6:109796639A>G c.1251T>C c.(1249-1251)gaT>gaC p.D417D COADREAD 6 109796639 109796639 + Silent SNP A A G TCGA-F4-6460-01A-11D-1771-10 TCGA-F4-6460-10B-01D-1771-10 g.chr6:109796639A>G c.1251T>C c.(1249-1251)gaT>gaC p.D417D COADREAD 6 109796640 109796640 + Missense_Mutation SNP T T C TCGA-CM-6679-01A-11D-1835-10 TCGA-CM-6679-10A-01D-1835-10 g.chr6:109796640T>C c.1250A>G c.(1249-1251)gAt>gGt p.D417G COADREAD 6 109796640 109796640 + Missense_Mutation SNP T T C TCGA-DM-A0XF-01A-11D-A152-10 TCGA-DM-A0XF-10A-01D-A152-10 g.chr6:109796640T>C c.1250A>G c.(1249-1251)gAt>gGt p.D417G COADREAD 6 109796640 109796640 + Missense_Mutation SNP T T C TCGA-DY-A1H8-01A-21D-A152-10 TCGA-DY-A1H8-10A-01D-A152-10 g.chr6:109796640T>C c.1250A>G c.(1249-1251)gAt>gGt p.D417G COADREAD 6 109796641 109796641 + Missense_Mutation SNP C C A TCGA-CM-6171-01A-11D-1650-10 TCGA-CM-6171-10A-01D-1650-10 g.chr6:109796641C>A c.1249G>T c.(1249-1251)Gat>Tat p.D417Y COADREAD 6 109797392 109797392 + Missense_Mutation SNP T T C TCGA-DM-A1HB-01A-21D-A183-10 TCGA-DM-A1HB-10A-01D-A183-10 g.chr6:109797392T>C c.1190A>G c.(1189-1191)tAc>tGc p.Y397C COADREAD 6 109797433 109797433 + Silent SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr6:109797433G>A c.1149C>T c.(1147-1149)tgC>tgT p.C383C COADREAD 6 109798128 109798128 + Nonsense_Mutation SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr6:109798128G>A c.958C>T c.(958-960)Cga>Tga p.R320* COADREAD 6 109802388 109802388 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr6:109802388C>T c.842G>A c.(841-843)aGg>aAg p.R281K DLBC 6 109787596 109787596 + Missense_Mutation SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr6:109787596C>T c.1552G>A c.(1552-1554)Gct>Act p.A518T DLBC 6 109796673 109796673 + Missense_Mutation SNP G G A TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr6:109796673G>A c.1217C>T c.(1216-1218)cCg>cTg p.P406L ESCA 6 109787701 109787701 + Missense_Mutation SNP G G T TCGA-X8-AAAR-01A-11D-A403-09 TCGA-X8-AAAR-10A-01D-A403-09 g.chr6:109787701G>T c.1447C>A c.(1447-1449)Cta>Ata p.L483I ESCA 6 109788901 109788901 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 g.chr6:109788901G>T c.1325C>A c.(1324-1326)tCt>tAt p.S442Y ESCA 6 109796645 109796645 + Missense_Mutation SNP G G T TCGA-R6-A6Y2-01B-11D-A33E-09 TCGA-R6-A6Y2-10A-01D-A33H-09 g.chr6:109796645G>T c.1245C>A c.(1243-1245)ttC>ttA p.F415L GBM 6 109787239 109787239 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 g.chr6:109787239C>T c.1909G>A c.(1909-1911)Gtg>Atg p.V637M GBMLGG 6 109787072 109787072 + Silent SNP A A T TCGA-FG-A6J3-01A-11D-A31L-08 TCGA-FG-A6J3-10A-01D-A31J-08 g.chr6:109787072A>T c.2076T>A c.(2074-2076)ctT>ctA p.L692L GBMLGG 6 109787239 109787239 + Missense_Mutation SNP C C T TCGA-06-6699-01A-11D-1845-08 TCGA-06-6699-10A-01D-1845-08 g.chr6:109787239C>T c.1909G>A c.(1909-1911)Gtg>Atg p.V637M GBMLGG 6 109802897 109802897 + Silent SNP A A T TCGA-DH-5144-01A-01D-1468-08 TCGA-DH-5144-10A-01D-1468-08 g.chr6:109802897A>T c.333T>A c.(331-333)gcT>gcA p.A111A HNSC 6 109787184 109787184 + Missense_Mutation SNP G G A TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr6:109787184G>A c.1964C>T c.(1963-1965)aCa>aTa p.T655I HNSC 6 109787413 109787413 + Missense_Mutation SNP C C G TCGA-CN-A640-01A-21D-A30E-08 TCGA-CN-A640-10A-01D-A30H-08 g.chr6:109787413C>G c.1735G>C c.(1735-1737)Gag>Cag p.E579Q HNSC 6 109787534 109787534 + Missense_Mutation SNP C C A TCGA-CV-5978-01A-11D-1683-08 TCGA-CV-5978-11A-01D-1683-08 g.chr6:109787534C>A c.1614G>T c.(1612-1614)caG>caT p.Q538H HNSC 6 109787621 109787622 + Frame_Shift_Ins INS - - A TCGA-MT-A51W-01A-21D-A25Y-08 TCGA-MT-A51W-10A-01D-A25Y-08 g.chr6:109787621_109787622insA c.1526_1527insT c.(1525-1527)ttgfs p.L509fs HNSC 6 109788881 109788881 + Missense_Mutation SNP G G A TCGA-CV-6961-01A-21D-1912-08 TCGA-CV-6961-10A-01D-1912-08 g.chr6:109788881G>A c.1345C>T c.(1345-1347)Ctt>Ttt p.L449F HNSC 6 109796641 109796641 + Missense_Mutation SNP C C A TCGA-CR-7390-01A-11D-2012-08 TCGA-CR-7390-10A-01D-2013-08 g.chr6:109796641C>A c.1249G>T c.(1249-1251)Gat>Tat p.D417Y HNSC 6 109802666 109802666 + Silent SNP C C G TCGA-CN-6021-01A-11D-1683-08 TCGA-CN-6021-10A-01D-1683-08 g.chr6:109802666C>G c.564G>C c.(562-564)gtG>gtC p.V188V KIPAN 6 109796655 109796655 + Missense_Mutation SNP T T G TCGA-UZ-A9PZ-01A-11D-A42J-10 TCGA-UZ-A9PZ-10A-01D-A42M-10 g.chr6:109796655T>G c.1235A>C c.(1234-1236)cAt>cCt p.H412P KIRP 6 109796655 109796655 + Missense_Mutation SNP T T G TCGA-UZ-A9PZ-01A-11D-A42J-10 TCGA-UZ-A9PZ-10A-01D-A42M-10 g.chr6:109796655T>G c.1235A>C c.(1234-1236)cAt>cCt p.H412P LGG 6 109787072 109787072 + Silent SNP A A T TCGA-FG-A6J3-01A-11D-A31L-08 TCGA-FG-A6J3-10A-01D-A31J-08 g.chr6:109787072A>T c.2076T>A c.(2074-2076)ctT>ctA p.L692L LGG 6 109802897 109802897 + Silent SNP A A T TCGA-DH-5144-01A-01D-1468-08 TCGA-DH-5144-10A-01D-1468-08 g.chr6:109802897A>T c.333T>A c.(331-333)gcT>gcA p.A111A LIHC 6 109803061 109803061 + Missense_Mutation SNP C C A TCGA-G3-AAUZ-01A-11D-A382-10 TCGA-G3-AAUZ-10A-01D-A385-10 g.chr6:109803061C>A c.169G>T c.(169-171)Gcc>Tcc p.A57S LUAD 6 109787142 109787142 + Missense_Mutation SNP T T C TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr6:109787142T>C c.2006A>G c.(2005-2007)cAg>cGg p.Q669R LUAD 6 109787215 109787215 + Silent SNP G G A TCGA-78-7145-01A-11D-2036-08 TCGA-78-7145-10A-01D-2036-08 g.chr6:109787215G>A c.1933C>T c.(1933-1935)Ctg>Ttg p.L645L LUAD 6 109787383 109787383 + Missense_Mutation SNP C C A TCGA-78-7146-01A-11D-2036-08 TCGA-78-7146-10A-01D-2036-08 g.chr6:109787383C>A c.1765G>T c.(1765-1767)Gct>Tct p.A589S LUAD 6 109787446 109787446 + Missense_Mutation SNP C C A TCGA-78-7152-01A-11D-2036-08 TCGA-78-7152-10A-01D-2036-08 g.chr6:109787446C>A c.1702G>T c.(1702-1704)Ggt>Tgt p.G568C LUAD 6 109787547 109787547 + Missense_Mutation SNP C C A TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr6:109787547C>A c.1601G>T c.(1600-1602)aGg>aTg p.R534M LUAD 6 109798036 109798036 + Nonsense_Mutation SNP G G T TCGA-55-8614-01A-11D-2393-08 TCGA-55-8614-10A-01D-2393-08 g.chr6:109798036G>T c.1050C>A c.(1048-1050)taC>taA p.Y350* LUAD 6 109802316 109802316 + Missense_Mutation SNP T T C TCGA-44-6779-01A-11D-1855-08 TCGA-44-6779-10A-01D-1855-08 g.chr6:109802316T>C c.914A>G c.(913-915)tAc>tGc p.Y305C LUAD 6 109802713 109802713 + Nonsense_Mutation SNP C C A TCGA-55-8507-01A-11D-2393-08 TCGA-55-8507-10A-01D-2393-08 g.chr6:109802713C>A c.517G>T c.(517-519)Gag>Tag p.E173* LUAD 6 109802996 109802996 + Missense_Mutation SNP C C G TCGA-86-6851-01A-11D-1945-08 TCGA-86-6851-10A-01D-1946-08 g.chr6:109802996C>G c.234G>C c.(232-234)atG>atC p.M78I LUSC 6 109787067 109787067 + Missense_Mutation SNP T T A TCGA-43-5668-01A-01D-1632-08 TCGA-43-5668-11A-01D-1632-08 g.chr6:109787067T>A c.2081A>T c.(2080-2082)cAg>cTg p.Q694L LUSC 6 109787325 109787325 + Nonsense_Mutation SNP G G C TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr6:109787325G>C c.1823C>G c.(1822-1824)tCa>tGa p.S608* LUSC 6 109796671 109796671 + Nonsense_Mutation SNP C C A TCGA-37-5819-01A-01D-1632-08 TCGA-37-5819-10A-01D-1632-08 g.chr6:109796671C>A c.1219G>T c.(1219-1221)Gaa>Taa p.E407* LUSC 6 109797403 109797403 + Silent SNP T T C TCGA-37-4135-01A-01D-1352-08 TCGA-37-4135-10A-01D-1352-08 g.chr6:109797403T>C c.1179A>G c.(1177-1179)ctA>ctG p.L393L LUSC 6 109802560 109802560 + Missense_Mutation SNP C C G TCGA-66-2773-01A-01D-1267-08 TCGA-66-2773-11A-01D-1267-08 g.chr6:109802560C>G c.670G>C c.(670-672)Gag>Cag p.E224Q LUSC 6 109802814 109802816 + In_Frame_Del DEL GTT GTT - TCGA-46-3769-01A-01D-0983-08 TCGA-46-3769-10A-01D-0983-08 g.chr6:109802814_109802816delGTT c.414_416delAAC c.(412-417)acaact>act p.138_139TT>T LUSC 6 109802864 109802864 + Silent SNP T T A TCGA-22-5480-01A-01D-1632-08 TCGA-22-5480-11A-01D-1632-08 g.chr6:109802864T>A c.366A>T c.(364-366)gtA>gtT p.V122V OV 6 109796641 109796641 + Missense_Mutation SNP C C A TCGA-61-2012-01A-01W-0722-08 TCGA-61-2012-11A-01W-0722-08 g.chr6:109796641C>A c.1249G>T c.(1249-1251)Gat>Tat p.D417Y OV 6 109796645 109796645 + Silent SNP G G A TCGA-29-1763-01A-02W-0633-09 TCGA-29-1763-10A-01W-0633-09 g.chr6:109796645G>A c.1245C>T c.(1243-1245)ttC>ttT p.F415F PAAD 6 109802729 109802729 + Frame_Shift_Del DEL T T - TCGA-IB-7652-01A-11D-2154-08 TCGA-IB-7652-10A-01D-2154-08 g.chr6:109802729delT c.501delA c.(499-501)aaafs p.K167fs PAAD 6 109802729 109802729 + Frame_Shift_Del DEL T T - TCGA-LB-A7SX-01A-11D-A33T-08 TCGA-LB-A7SX-10A-01D-A33W-08 g.chr6:109802729delT c.501delA c.(499-501)aaafs p.K167fs PRAD 6 109802616 109802616 + Missense_Mutation SNP C C T TCGA-EJ-A7NM-01A-21D-A33T-08 TCGA-EJ-A7NM-10A-01D-A33W-08 g.chr6:109802616C>T c.614G>A c.(613-615)gGt>gAt p.G205D READ 6 109788857 109788857 + Splice_Site SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr6:109788857G>A c.1369C>T c.(1369-1371)Cga>Tga p.R457* READ 6 109796613 109796613 + Missense_Mutation SNP C C T TCGA-AG-A020-01A-21W-A096-10 TCGA-AG-A020-11A-11W-A096-10 g.chr6:109796613C>T c.1277G>A c.(1276-1278)cGa>cAa p.R426Q READ 6 109796640 109796640 + Missense_Mutation SNP T T C TCGA-DY-A1H8-01A-21D-A152-10 TCGA-DY-A1H8-10A-01D-A152-10 g.chr6:109796640T>C c.1250A>G c.(1249-1251)gAt>gGt p.D417G SKCM 6 109797389 109797389 + Missense_Mutation SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr6:109797389C>T c.1193G>A c.(1192-1194)cGa>cAa p.R398Q

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 6 109802504 109802504 single base substitution C G missense_variant K242N 726G>C BLCA-US 6 109803198 109803198 single base substitution T C missense_variant Q11R 32A>G BRCA-EU 6 109779369 109779369 single base substitution G C downstream_gene_variant BRCA-EU 6 109779453 109779453 single base substitution C G downstream_gene_variant BRCA-EU 6 109781493 109781493 deletion of <=200bp A - downstream_gene_variant BRCA-EU 6 109781996 109781996 single base substitution T A downstream_gene_variant BRCA-EU 6 109782541 109782541 deletion of <=200bp T - downstream_gene_variant BRCA-EU 6 109783094 109783094 single base substitution T G downstream_gene_variant BRCA-EU 6 109783298 109783298 single base substitution C A downstream_gene_variant BRCA-EU 6 109783900 109783900 single base substitution G T 3_prime_UTR_variant BRCA-EU 6 109783911 109783911 single base substitution G A 3_prime_UTR_variant BRCA-EU 6 109784174 109784174 single base substitution C G 3_prime_UTR_variant BRCA-EU 6 109784827 109784827 insertion of <=200bp - TGTAAGT 3_prime_UTR_variant BRCA-EU 6 109785639 109785639 single base substitution C T 3_prime_UTR_variant BRCA-EU 6 109785652 109785652 single base substitution T C 3_prime_UTR_variant BRCA-EU 6 109787286 109787286 single base substitution T C missense_variant N621S 1862A>G BRCA-EU 6 109788445 109788445 single base substitution G T intron_variant BRCA-EU 6 109789225 109789225 single base substitution C G intron_variant BRCA-EU 6 109791304 109791304 deletion of <=200bp G - intron_variant BRCA-EU 6 109792729 109792729 single base substitution C G intron_variant BRCA-EU 6 109794978 109794978 single base substitution A C intron_variant BRCA-EU 6 109798129 109798129 single base substitution C A missense_variant E319D 957G>T BRCA-EU 6 109799366 109799366 single base substitution G C intron_variant BRCA-EU 6 109799814 109799814 single base substitution G A intron_variant BRCA-EU 6 109800540 109800540 single base substitution T A intron_variant BRCA-EU 6 109802008 109802008 single base substitution A C intron_variant BRCA-EU 6 109802434 109802434 single base substitution C G missense_variant D266H 796G>C BRCA-EU 6 109802661 109802661 single base substitution T C missense_variant N190S 569A>G BRCA-EU 6 109803969 109803969 single base substitution G A intron_variant BRCA-EU 6 109804531 109804531 single base substitution A G upstream_gene_variant BRCA-EU 6 109805315 109805315 single base substitution G A upstream_gene_variant BRCA-EU 6 109805800 109805800 single base substitution C G upstream_gene_variant BRCA-EU 6 109806986 109806986 deletion of <=200bp T - upstream_gene_variant BRCA-EU 6 109807307 109807307 single base substitution T G upstream_gene_variant BRCA-EU 6 109807315 109807315 single base substitution C A upstream_gene_variant BRCA-EU 6 109808116 109808116 single base substitution A C upstream_gene_variant BRCA-EU 6 109808250 109808250 single base substitution T C upstream_gene_variant BRCA-EU 6 109808581 109808581 single base substitution C T upstream_gene_variant BRCA-EU 6 109808780 109808780 single base substitution A C upstream_gene_variant BRCA-EU 6 109809280 109809280 single base substitution G C upstream_gene_variant BRCA-EU 6 109809398 109809398 single base substitution A T upstream_gene_variant BRCA-FR 6 109785652 109785652 single base substitution T C 3_prime_UTR_variant BRCA-FR 6 109799814 109799814 single base substitution G A intron_variant BRCA-FR 6 109805315 109805315 single base substitution G A upstream_gene_variant BRCA-FR 6 109807582 109807582 single base substitution C T upstream_gene_variant BRCA-FR 6 109808782 109808782 single base substitution G T upstream_gene_variant BRCA-UK 6 109802332 109802332 single base substitution C T missense_variant G300S 898G>A BRCA-US 6 109787472 109787472 single base substitution G T missense_variant S559Y 1676C>A BRCA-US 6 109787658 109787658 single base substitution A C stop_gained L497* 1490T>G BRCA-US 6 109788926 109788926 single base substitution A C missense_variant F434V 1300T>G BRCA-US 6 109803035 109803035 single base substitution C G missense_variant M65I 195G>C BRCA-US 6 109803079 109803079 deletion of <=200bp G - frameshift_variant H51 BTCA-JP 6 109788940 109788940 insertion of <=200bp - A splice_region_variant BTCA-JP 6 109796715 109796715 single base substitution G A intron_variant BTCA-JP 6 109802525 109802525 deletion of <=200bp T - frameshift_variant K235 BTCA-JP 6 109802799 109802799 single base substitution C A missense_variant G144V 431G>T CESC-US 6 109787778 109787778 single base substitution C T splice_acceptor_variant CLLE-ES 6 109797874 109797874 single base substitution C A intron_variant CLLE-ES 6 109804593 109804593 single base substitution G A upstream_gene_variant COAD-US 6 109787447 109787447 single base substitution G A synonymous_variant P567P 1701C>T COAD-US 6 109787678 109787678 single base substitution G T missense_variant F490L 1470C>A COAD-US 6 109788940 109788940 deletion of <=200bp A - splice_region_variant COAD-US 6 109797433 109797433 single base substitution G A synonymous_variant C383C 1149C>T COCA-CN 6 109802484 109802484 single base substitution C A missense_variant S249I 746G>T COCA-CN 6 109802752 109802752 single base substitution G A missense_variant R160W 478C>T COCA-CN 6 109807008 109807008 single base substitution T C upstream_gene_variant ESAD-UK 6 109779569 109779569 single base substitution C T downstream_gene_variant ESAD-UK 6 109785508 109785508 single base substitution C G 3_prime_UTR_variant ESAD-UK 6 109788564 109788564 deletion of <=200bp A - intron_variant ESAD-UK 6 109790828 109790829 deletion of <=200bp CT - intron_variant ESAD-UK 6 109791775 109791775 single base substitution C T intron_variant ESAD-UK 6 109795502 109795502 single base substitution G T intron_variant ESAD-UK 6 109801705 109801705 single base substitution C A intron_variant ESAD-UK 6 109803803 109803803 single base substitution C G intron_variant ESAD-UK 6 109808496 109808496 single base substitution A T upstream_gene_variant ESAD-UK 6 109809056 109809056 single base substitution C T upstream_gene_variant ESAD-UK 6 109809254 109809254 single base substitution C A upstream_gene_variant ESAD-UK 6 109809362 109809362 single base substitution G A upstream_gene_variant ESCA-CN 6 109802447 109802447 single base substitution G A synonymous_variant S261S 783C>T ESCA-CN 6 109802912 109802912 single base substitution T A synonymous_variant T106T 318A>T GBM-US 6 109787239 109787239 single base substitution C T missense_variant V637M 1909G>A LAML-KR 6 109781623 109781623 single base substitution C T downstream_gene_variant LICA-FR 6 109787591 109787591 single base substitution T C synonymous_variant S519S 1557A>G LICA-FR 6 109787621 109787621 single base substitution C T synonymous_variant L509L 1527G>A LINC-JP 6 109792527 109792527 single base substitution G A intron_variant LINC-JP 6 109793347 109793347 single base substitution C A intron_variant LINC-JP 6 109802252 109802252 single base substitution G A intron_variant LIRI-JP 6 109779047 109779047 single base substitution T A downstream_gene_variant LIRI-JP 6 109779048 109779048 single base substitution A T downstream_gene_variant LIRI-JP 6 109779416 109779416 single base substitution G A downstream_gene_variant LIRI-JP 6 109782352 109782352 single base substitution C T downstream_gene_variant LIRI-JP 6 109783419 109783419 single base substitution T C downstream_gene_variant LIRI-JP 6 109783603 109783603 single base substitution T C downstream_gene_variant LIRI-JP 6 109783709 109783709 single base substitution T C downstream_gene_variant LIRI-JP 6 109786308 109786308 single base substitution T C 3_prime_UTR_variant LIRI-JP 6 109788556 109788556 single base substitution T C intron_variant LIRI-JP 6 109791314 109791314 single base substitution G A intron_variant LIRI-JP 6 109793035 109793035 single base substitution C A intron_variant LIRI-JP 6 109793098 109793098 single base substitution G A intron_variant LIRI-JP 6 109794035 109794035 single base substitution T G intron_variant LIRI-JP 6 109797898 109797898 single base substitution G A intron_variant LIRI-JP 6 109799566 109799566 single base substitution T C intron_variant LIRI-JP 6 109802729 109802729 deletion of <=200bp T - frameshift_variant K167 LIRI-JP 6 109803767 109803767 single base substitution C A intron_variant LIRI-JP 6 109805284 109805284 single base substitution C T upstream_gene_variant LIRI-JP 6 109805901 109805901 single base substitution A T upstream_gene_variant LIRI-JP 6 109806484 109806484 single base substitution T C upstream_gene_variant LIRI-JP 6 109808959 109808959 single base substitution T A upstream_gene_variant LUSC-KR 6 109781465 109781465 single base substitution C A downstream_gene_variant LUSC-KR 6 109781784 109781784 single base substitution A G downstream_gene_variant LUSC-KR 6 109785214 109785214 single base substitution C T 3_prime_UTR_variant LUSC-KR 6 109786157 109786157 single base substitution G A 3_prime_UTR_variant LUSC-KR 6 109787944 109787944 single base substitution G A intron_variant LUSC-KR 6 109790127 109790127 single base substitution G A intron_variant LUSC-KR 6 109791127 109791127 single base substitution C A intron_variant LUSC-KR 6 109791128 109791128 single base substitution C A intron_variant LUSC-KR 6 109792353 109792353 single base substitution C T intron_variant LUSC-KR 6 109794185 109794185 single base substitution C A intron_variant LUSC-KR 6 109794384 109794384 single base substitution C A intron_variant LUSC-KR 6 109798283 109798283 single base substitution T C intron_variant LUSC-KR 6 109801897 109801897 single base substitution T A intron_variant LUSC-KR 6 109804300 109804300 single base substitution C T splice_donor_variant LUSC-KR 6 109804484 109804484 single base substitution G A upstream_gene_variant LUSC-KR 6 109805644 109805644 single base substitution C A upstream_gene_variant LUSC-KR 6 109805848 109805848 single base substitution G C upstream_gene_variant LUSC-KR 6 109808609 109808609 single base substitution G T upstream_gene_variant LUSC-US 6 109787067 109787067 single base substitution T A missense_variant Q694L 2081A>T LUSC-US 6 109787325 109787325 single base substitution G C stop_gained S608* 1823C>G LUSC-US 6 109796671 109796671 single base substitution C A stop_gained E407* 1219G>T LUSC-US 6 109797403 109797403 single base substitution T C synonymous_variant L393L 1179A>G LUSC-US 6 109802560 109802560 single base substitution C G missense_variant E224Q 670G>C LUSC-US 6 109802814 109802816 deletion of <=200bp GTT - disruptive_inframe_deletion TT138T LUSC-US 6 109802864 109802864 single base substitution T A synonymous_variant V122V 366A>T MALY-DE 6 109788954 109788954 insertion of <=200bp - G intron_variant MALY-DE 6 109788959 109788959 single base substitution A C intron_variant MALY-DE 6 109789038 109789038 single base substitution A G intron_variant MALY-DE 6 109803413 109803413 single base substitution G A intron_variant MELA-AU 6 109779273 109779273 single base substitution G A downstream_gene_variant MELA-AU 6 109780683 109780683 single base substitution C T downstream_gene_variant MELA-AU 6 109781726 109781726 single base substitution T C downstream_gene_variant MELA-AU 6 109782008 109782008 single base substitution G A downstream_gene_variant MELA-AU 6 109782038 109782038 single base substitution C A downstream_gene_variant MELA-AU 6 109782053 109782053 single base substitution A T downstream_gene_variant MELA-AU 6 109783643 109783643 single base substitution C T downstream_gene_variant MELA-AU 6 109783951 109783951 deletion of <=200bp G - 3_prime_UTR_variant MELA-AU 6 109784540 109784540 single base substitution G A 3_prime_UTR_variant MELA-AU 6 109787102 109787102 single base substitution G A synonymous_variant P682P 2046C>T MELA-AU 6 109788631 109788631 single base substitution C T intron_variant MELA-AU 6 109790317 109790318 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 6 109792012 109792012 single base substitution G A intron_variant MELA-AU 6 109792025 109792025 single base substitution G A intron_variant MELA-AU 6 109792384 109792384 single base substitution G A intron_variant MELA-AU 6 109793631 109793631 single base substitution G A intron_variant MELA-AU 6 109793731 109793731 single base substitution G A intron_variant MELA-AU 6 109795830 109795830 single base substitution G A intron_variant MELA-AU 6 109797698 109797698 single base substitution A C intron_variant MELA-AU 6 109798972 109798972 single base substitution C T intron_variant MELA-AU 6 109801459 109801459 single base substitution G A intron_variant MELA-AU 6 109801556 109801556 single base substitution G A intron_variant MELA-AU 6 109801729 109801729 single base substitution C T intron_variant MELA-AU 6 109801909 109801909 single base substitution G A intron_variant MELA-AU 6 109802088 109802088 single base substitution A G intron_variant MELA-AU 6 109803122 109803122 single base substitution G A synonymous_variant L36L 108C>T MELA-AU 6 109803140 109803140 single base substitution C T synonymous_variant Q30Q 90G>A MELA-AU 6 109803831 109803831 single base substitution A T intron_variant MELA-AU 6 109804130 109804130 single base substitution G A intron_variant MELA-AU 6 109805935 109805936 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 6 109805977 109805977 single base substitution G A upstream_gene_variant MELA-AU 6 109805978 109805979 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 6 109806108 109806108 single base substitution C T upstream_gene_variant MELA-AU 6 109806275 109806275 single base substitution G A upstream_gene_variant MELA-AU 6 109808033 109808033 single base substitution G A upstream_gene_variant MELA-AU 6 109808519 109808519 single base substitution G A upstream_gene_variant MELA-AU 6 109808630 109808630 single base substitution C T upstream_gene_variant MELA-AU 6 109808714 109808714 single base substitution G A upstream_gene_variant MELA-AU 6 109808814 109808814 single base substitution G A upstream_gene_variant MELA-AU 6 109808866 109808866 single base substitution T G upstream_gene_variant MELA-AU 6 109808983 109808983 single base substitution A T upstream_gene_variant MELA-AU 6 109809107 109809107 single base substitution C T upstream_gene_variant MELA-AU 6 109809229 109809229 single base substitution G A upstream_gene_variant ORCA-IN 6 109780116 109780116 single base substitution C G downstream_gene_variant ORCA-IN 6 109790135 109790135 deletion of <=200bp G - intron_variant ORCA-IN 6 109803202 109803202 single base substitution C T missense_variant G10R 28G>A OV-AU 6 109778859 109778859 single base substitution C A downstream_gene_variant OV-AU 6 109792171 109792171 single base substitution C G intron_variant OV-AU 6 109792204 109792204 single base substitution G C intron_variant OV-AU 6 109798976 109798976 single base substitution C G intron_variant OV-AU 6 109801933 109801933 single base substitution G T intron_variant OV-AU 6 109808047 109808047 single base substitution G A upstream_gene_variant OV-AU 6 109809201 109809201 single base substitution A T upstream_gene_variant PACA-AU 6 109779719 109779719 single base substitution A T downstream_gene_variant PACA-AU 6 109782244 109782244 single base substitution G T downstream_gene_variant PACA-AU 6 109784793 109784793 single base substitution T A 3_prime_UTR_variant PACA-AU 6 109787038 109787038 single base substitution C A 3_prime_UTR_variant PACA-AU 6 109792510 109792510 single base substitution C G intron_variant PACA-AU 6 109796432 109796432 single base substitution G A intron_variant PACA-AU 6 109798609 109798609 single base substitution C T intron_variant PACA-AU 6 109800020 109800020 single base substitution G A intron_variant PACA-AU 6 109808100 109808100 single base substitution G C upstream_gene_variant PACA-AU 6 109808764 109808764 single base substitution C T upstream_gene_variant PACA-CA 6 109790075 109790099 deletion of <=200bp GTTCCCCAGAAACAAAATTAAGTAA - intron_variant PACA-CA 6 109790832 109790832 single base substitution T C intron_variant PACA-CA 6 109794624 109794624 single base substitution C T intron_variant PACA-CA 6 109797374 109797374 single base substitution G A splice_region_variant PACA-CA 6 109799590 109799590 single base substitution G A intron_variant PACA-CA 6 109800572 109800572 single base substitution A G intron_variant PACA-CA 6 109801018 109801018 single base substitution C A intron_variant PACA-CA 6 109807615 109807615 single base substitution A G upstream_gene_variant PBCA-DE 6 109789057 109789057 single base substitution C T intron_variant PBCA-DE 6 109789161 109789161 single base substitution T C intron_variant PBCA-DE 6 109802422 109802422 single base substitution C A missense_variant V270F 808G>T PBCA-DE 6 109809362 109809362 single base substitution G A upstream_gene_variant PRAD-CA 6 109782659 109782659 single base substitution T C downstream_gene_variant PRAD-CA 6 109785933 109785933 single base substitution C G 3_prime_UTR_variant PRAD-CA 6 109788213 109788213 single base substitution C G intron_variant PRAD-UK 6 109789080 109789080 single base substitution G A intron_variant READ-US 6 109787329 109787329 single base substitution G T missense_variant L607I 1819C>A RECA-EU 6 109795602 109795602 single base substitution G T intron_variant RECA-EU 6 109798753 109798753 single base substitution T A intron_variant SKCA-BR 6 109782320 109782320 single base substitution T C downstream_gene_variant SKCA-BR 6 109788485 109788485 single base substitution G A intron_variant SKCA-BR 6 109789392 109789392 single base substitution A C intron_variant SKCA-BR 6 109791110 109791110 single base substitution T C intron_variant SKCA-BR 6 109791630 109791630 single base substitution G A intron_variant SKCA-BR 6 109795935 109795935 insertion of <=200bp - CAA intron_variant SKCA-BR 6 109796246 109796246 insertion of <=200bp - TA intron_variant SKCA-BR 6 109801519 109801519 single base substitution G A intron_variant SKCA-BR 6 109806498 109806498 single base substitution G A upstream_gene_variant SKCA-BR 6 109809348 109809348 single base substitution G A upstream_gene_variant SKCM-US 6 109797389 109797389 single base substitution C T missense_variant R398Q 1193G>A STAD-US 6 109786988 109786988 single base substitution G A 3_prime_UTR_variant STAD-US 6 109787303 109787303 single base substitution T C synonymous_variant E615E 1845A>G STAD-US 6 109787338 109787338 single base substitution T C missense_variant N604D 1810A>G STAD-US 6 109787365 109787365 single base substitution G A missense_variant L595F 1783C>T STAD-US 6 109787370 109787370 insertion of <=200bp - GTAAGATTA disruptive_inframe_insertion T593TNLT STAD-US 6 109787482 109787482 single base substitution C T missense_variant V556I 1666G>A STAD-US 6 109787639 109787639 single base substitution G A synonymous_variant D503D 1509C>T STAD-US 6 109796613 109796613 single base substitution C T missense_variant R426Q 1277G>A STAD-US 6 109798005 109798005 single base substitution T C missense_variant T361A 1081A>G STAD-US 6 109802729 109802729 insertion of <=200bp - T frameshift_variant K167K? STAD-US 6 109802745 109802745 single base substitution C T missense_variant R162Q 485G>A STAD-US 6 109803146 109803146 single base substitution C A missense_variant E28D 84G>T THCA-US 6 109787075 109787075 single base substitution T A synonymous_variant P691P 2073A>T THCA-US 6 109787521 109787521 single base substitution G C missense_variant Q543E 1627C>G THCA-US 6 109802299 109802299 single base substitution T C missense_variant I311V 931A>G UCEC-US 6 109786988 109786988 single base substitution G A 3_prime_UTR_variant UCEC-US 6 109787007 109787007 single base substitution C A 3_prime_UTR_variant UCEC-US 6 109787230 109787230 single base substitution G C missense_variant L640V 1918C>G UCEC-US 6 109787239 109787239 single base substitution C T missense_variant V637M 1909G>A UCEC-US 6 109787240 109787240 single base substitution G A synonymous_variant H636H 1908C>T UCEC-US 6 109787329 109787329 single base substitution G T missense_variant L607I 1819C>A UCEC-US 6 109787507 109787507 single base substitution C T synonymous_variant S547S 1641G>A UCEC-US 6 109796613 109796613 single base substitution C T missense_variant R426Q 1277G>A UCEC-US 6 109798047 109798047 single base substitution C T missense_variant E347K 1039G>A UCEC-US 6 109802476 109802476 single base substitution G A stop_gained R252* 754C>T UCEC-US 6 109802746 109802746 single base substitution G A missense_variant R162W 484C>T UCEC-US 6 109802885 109802885 single base substitution G T missense_variant F115L 345C>A UCEC-US 6 109803014 109803014 single base substitution G A synonymous_variant I72I 216C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 61 COSM5737721 c.1060G>A p.V354M Substitution - Missense 6:109476823-109476823 - LUAD-S01345 COSM397318 c.1918C>T p.L640L Substitution - coding silent 6:109466027-109466027 - CHC793T COSM4801342 c.1557A>G p.S519S Substitution - coding silent 6:109466388-109466388 - T8 COSM4445026 c.1150G>A p.G384R Substitution - Missense 6:109476229-109476229 - TCGA-AP-A051-01 COSM1071994 c.1908C>T p.H636H Substitution - coding silent 6:109466037-109466037 - C91 COSM4445026 c.1150G>A p.G384R Substitution - Missense 6:109476229-109476229 - pfg016T COSM264764 c.1369C>T p.R457* Substitution - Nonsense 6:109467654-109467654 - BD135T COSM3155349 c.705delA p.D236fs*74 Deletion - Frameshift 6:109481322-109481322 - TCGA-37-4135-01 COSM739709 c.1179A>G p.L393L Substitution - coding silent 6:109476200-109476200 - T3038 COSM167710 c.1277G>A p.R426Q Substitution - Missense 6:109475410-109475410 - TCGA-B5-A0JY-01 COSM1071999 c.345C>A p.F115L Substitution - Missense 6:109481682-109481682 - S02299 COSM5404141 c.1415C>T p.S472F Substitution - Missense 6:109466530-109466530 - PD9696a COSM5782674 c.796G>C p.D266H Substitution - Missense 6:109481231-109481231 - BD72T COSM5511362 c.1289-4_1289-3insT p.? Unknown 6:109467737-109467738 - TCGA-AN-A0FL-01 COSM450303 c.1490T>G p.L497* Substitution - Nonsense 6:109466455-109466455 - PD3985a COSM165654 c.898G>A p.G300S Substitution - Missense 6:109481129-109481129 - TCGA-BH-A0DK-01 COSM450302 c.1676C>A p.S559Y Substitution - Missense 6:109466269-109466269 - TCGA-BH-A1FN-01 COSM5220060 c.151delC p.H51fs*14 Deletion - Frameshift 6:109481876-109481876 - D-05 COSM1270708 c.1043G>A p.R348Q Substitution - Missense 6:109476840-109476840 - TCGA-EM-A3O9-01 COSM3374011 c.1627C>G p.Q543E Substitution - Missense 6:109466318-109466318 - BZ04 COSM5437504 c.783C>T p.S261S Substitution - coding silent 6:109481244-109481244 - pfg120T COSM4760038 c.247G>A p.V83I Substitution - Missense 6:109481780-109481780 - TCGA-HF-7132-01 COSM3857384 c.1783C>T p.L595F Substitution - Missense 6:109466162-109466162 - TCGA-DG-A2KJ-01 COSM4821450 c.1371-1G>A p.? Unknown 6:109466575-109466575 - ESCC-190T COSM3941452 c.318A>T p.T106T Substitution - coding silent 6:109481709-109481709 - TCGA-AN-A046-01 COSM3828761 c.1300T>G p.F434V Substitution - Missense 6:109467723-109467723 - TCGA-B5-A0JY-01 COSM1071995 c.1641G>A p.S547S Substitution - coding silent 6:109466304-109466304 - OSCC-GB_01240111 COSM5954151 c.28G>A p.G10R Substitution - Missense 6:109481999-109481999 - A9 COSM5351243 c.1031A>T p.H344L Substitution - Missense 6:109476852-109476852 - LUAD-S01345 COSM397319 c.1663C>T p.L555F Substitution - Missense 6:109466282-109466282 - BCM501T COSM4951985 c.1527G>A p.L509L Substitution - coding silent 6:109466418-109466418 - CSCC-7-T COSM4529211 c.1594G>A p.E532K Substitution - Missense 6:109466351-109466351 - TCGA-BS-A0UF-01 COSM167710 c.1277G>A p.R426Q Substitution - Missense 6:109475410-109475410 - TCGA-AP-A0LM-01 COSM1072000 c.216C>T p.I72I Substitution - coding silent 6:109481811-109481811 - TCGA-AA-A00N-01 COSM278185 c.1476C>T p.C492C Substitution - coding silent 6:109466469-109466469 - ESO-122 COSM1270708 c.1043G>A p.R348Q Substitution - Missense 6:109476840-109476840 - TCGA-D1-A103-01 COSM1071997 c.754C>T p.R252* Substitution - Nonsense 6:109481273-109481273 - SH-0622 COSM1724973 c.501delA p.V168fs*19 Deletion - Frameshift 6:109481526-109481526 - ICGC_MB75 COSM3765221 c.808G>T p.V270F Substitution - Missense 6:109481219-109481219 - TCGA-GC-A3I6-01 COSM1311454 c.32A>G p.Q11R Substitution - Missense 6:109481995-109481995 - TCGA-43-5668-01 COSM739712 c.2081A>T p.Q694L Substitution - Missense 6:109465864-109465864 - 2293782 COSM4609182 c.1966G>T p.E656* Substitution - Nonsense 6:109465979-109465979 - YUHAMA COSM5404141 c.1415C>T p.S472F Substitution - Missense 6:109466530-109466530 - LUAD-YINHD COSM351299 c.368A>T p.K123M Substitution - Missense 6:109481659-109481659 - TCGA-BK-A139-01 COSM1071996 c.1039G>A p.E347K Substitution - Missense 6:109476844-109476844 - TCGA-BR-A4QL-01 COSM3857386 c.1509C>T p.D503D Substitution - coding silent 6:109466436-109466436 - PT46 COSM5943938 c.1302delT p.F434fs*69 Deletion - Frameshift 6:109467721-109467721 - MOLT-4 COSM1672664 c.1130C>A p.S377Y Substitution - Missense 6:109476249-109476249 - TCGA-BR-A4QL-01 COSM167710 c.1277G>A p.R426Q Substitution - Missense 6:109475410-109475410 - TCGA-AA-A010-01 COSM286618 c.1819C>A p.L607I Substitution - Missense 6:109466126-109466126 - TCGA-BR-8487-01 COSM3857388 c.485G>A p.R162Q Substitution - Missense 6:109481542-109481542 - 1N30-VS-1T30 COSM4974155 c.1252G>T p.V418L Substitution - Missense 6:109475435-109475435 - ZZUFHECRKL-G014T COSM5437504 c.783C>T p.S261S Substitution - coding silent 6:109481244-109481244 - ICGC_0011 COSM1158668 c.1893A>G p.Q631Q Substitution - coding silent 6:109466052-109466052 - CA3 COSM1166285 c.2037G>A p.P679P Substitution - coding silent 6:109465908-109465908 - PCSI_0185_Pa_P COSM3781960 c.1204+4C>T p.? Unknown 6:109476171-109476171 - C089 COSM5543625 c.404C>T p.P135L Substitution - Missense 6:109481623-109481623 - ESO-119 COSM1270707 c.2070G>A p.T690T Substitution - coding silent 6:109465875-109465875 - TCGA-D5-6540-01 COSM5830213 c.1289-3delT p.? Unknown 6:109467737-109467737 - TCGA-A8-A07W-01 COSM450304 c.195G>C p.M65I Substitution - Missense 6:109481832-109481832 - TCGA-22-5480-01 COSM739707 c.366A>T p.V122V Substitution - coding silent 6:109481661-109481661 - 8014399 COSM1158668 c.1893A>G p.Q631Q Substitution - coding silent 6:109466052-109466052 - TCGA-CD-5801-01 COSM3857387 c.1081A>G p.T361A Substitution - Missense 6:109476802-109476802 - Pa11X COSM85002 c.29G>A p.G10E Substitution - Missense 6:109481998-109481998 - TCGA-D5-6928-01 COSM1439656 c.1701C>T p.P567P Substitution - coding silent 6:109466244-109466244 - 5_RESISTANT COSM1724973 c.501delA p.V168fs*19 Deletion - Frameshift 6:109481526-109481526 - cSCCP2 COSM137468 c.541G>A p.E181K Substitution - Missense 6:109481486-109481486 - TCGA-AG-A002-01 COSM264764 c.1369C>T p.R457* Substitution - Nonsense 6:109467654-109467654 - CSCC-46-T COSM4451379 c.1190A>G p.Y397C Substitution - Missense 6:109476189-109476189 - T2269 COSM4742114 c.806T>G p.L269R Substitution - Missense 6:109481221-109481221 - T3090 COSM4742113 c.1634_1635delCT p.S545fs*17 Deletion - Frameshift 6:109466310-109466311 - TCGA-BR-6452-01 COSM3857389 c.84G>T p.E28D Substitution - Missense 6:109481943-109481943 - TCGA-CA-6718-01 COSM1439657 c.1470C>A p.F490L Substitution - Missense 6:109466475-109466475 - TCGA-AP-A059-01 COSM1071998 c.484C>T p.R162W Substitution - Missense 6:109481543-109481543 - TCGA-D1-A103-01 COSM286618 c.1819C>A p.L607I Substitution - Missense 6:109466126-109466126 - TCGA-F5-6814-01 COSM286618 c.1819C>A p.L607I Substitution - Missense 6:109466126-109466126 - 6115237 COSM5569815 c.1059C>T p.T353T Substitution - coding silent 6:109476824-109476824 - TCGA-06-6699-01 COSM1071993 c.1909G>A p.V637M Substitution - Missense 6:109466036-109466036 - TCGA-D1-A0ZS-01 COSM1071993 c.1909G>A p.V637M Substitution - Missense 6:109466036-109466036 - TCGA-66-2773-01 COSM739711 c.1823C>G p.S608* Substitution - Nonsense 6:109466122-109466122 - TCGA-BS-A0UV-01 COSM1071992 c.1918C>G p.L640V Substitution - Missense 6:109466027-109466027 - TCGA-GV-A3JZ-01 COSM1311453 c.726G>C p.K242N Substitution - Missense 6:109481301-109481301 - LUAD-NYU213 COSM371550 c.2077G>A p.G693S Substitution - Missense 6:109465868-109465868 - TCGA-AA-A010-01 COSM286619 c.842G>A p.R281K Substitution - Missense 6:109481185-109481185 - TCGA-37-5819-01 COSM739710 c.1219G>T p.E407* Substitution - Nonsense 6:109475468-109475468 - H650 COSM1194516 c.942G>T p.R314S Substitution - Missense 6:109481085-109481085 - Br27P COSM40777 c.1886C>T p.P629L Substitution - Missense 6:109466059-109466059 - TCGA-CG-4305-01 COSM3857383 c.1810A>G p.N604D Substitution - Missense 6:109466135-109466135 - LN18 COSM3155355 c.225C>T p.S75S Substitution - coding silent 6:109481802-109481802 - BCM501T COSM4951985 c.1527G>A p.L509L Substitution - coding silent 6:109466418-109466418 - GC8_T COSM150152 c.268C>T p.L90L Substitution - coding silent 6:109481759-109481759 - TCGA-EM-A3O9-01 COSM3374012 c.931A>G p.I311V Substitution - Missense 6:109481096-109481096 - 2293782 COSM4609183 c.1698G>T p.M566I Substitution - Missense 6:109466247-109466247 - TCGA-CG-5721-01 COSM3857382 c.1845A>G p.E615E Substitution - coding silent 6:109466100-109466100 - PD6684a COSM5791629 c.569A>G p.N190S Substitution - Missense 6:109481458-109481458 - TCGA-66-2773-01 COSM739708 c.670G>C p.E224Q Substitution - Missense 6:109481357-109481357 - TCGA-29-1763-01 COSM1329364 c.1245C>T p.F415F Substitution - coding silent 6:109475442-109475442 - TCGA-AD-5900-01 COSM1439660 c.1149C>T p.C383C Substitution - coding silent 6:109476230-109476230 - 473 COSM4438191 c.156A>T p.K52N Substitution - Missense 6:109481871-109481871 - CHC793T COSM4801342 c.1557A>G p.S519S Substitution - coding silent 6:109466388-109466388 - MO_1012 COSM5555974 c.217G>T p.G73C Substitution - Missense 6:109481810-109481810 - TCGA-AM-5820-01 COSM5830213 c.1289-3delT p.? Unknown 6:109467737-109467737 - TCGA-BR-8680-01 COSM3857385 c.1666G>A p.V556I Substitution - Missense 6:109466279-109466279 - TCGA-61-2012-01 COSM73331 c.1249G>T p.D417Y Substitution - Missense 6:109475438-109475438 - TCGA-EE-A2MR-06 COSM3619384 c.1193G>A p.R398Q Substitution - Missense 6:109476186-109476186 - TCGA-EL-A3CV-01 COSM3374010 c.2073A>T p.P691P Substitution - coding silent 6:109465872-109465872 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.409846;Hs.409873;Hs.409876 6q21 614064 1518582|dbSNP|BC117374|A/G|non-coding||3174|Candidate; 1518582|dbSNP|BC117376|A/G|non-coding||3174|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Nonsense p.L497* c.1490T>G 6 109787658 BRCA A T Synonymous p.A111A c.333T>A 6 109802897 LGG C A Missense p.D417Y c.1249G>T 6 109796641 HNSC C A Missense p.D417Y c.1249G>T 6 109796641 OV C A Missense p.Q538H c.1614G>T 6 109787534 HNSC C A Missense p.V270F c.808G>T 6 109802422 MB C A Nonsense p.E407* c.1219G>T 6 109796671 LUSC C - Frameshift p.Q11Sfs*31 c.30delG 6 109803200 COREAD C G Missense p.E224Q c.670G>C 6 109802560 LUSC C G Missense p.K242N c.726G>C 6 109802504 BLCA C G Missense p.M65I c.195G>C 6 109803035 BRCA C G Synonymous p.V188V c.564G>C 6 109802666 HNSC C T Missense p.E347K c.1039G>A 6 109798047 UCEC C T Missense p.G300S c.898G>A 6 109802332 BRCA C T Missense p.P629L c.1886C>T 6 109787262 GBM C T Missense p.R348Q c.1043G>A 6 109798043 ESCA C T Missense p.R426Q c.1277G>A 6 109796613 COREAD C T Missense p.V637M c.1909G>A 6 109787239 GBM C T Missense p.V637M c.1909G>A 6 109787239 UCEC G A Missense p.G10E c.29G>A 6 109803201 PAAD G A Missense p.L449F c.1345C>T 6 109788881 HNSC G A Nonsense p.R457* c.1369C>T 6 109788857 STAD G C Missense p.Q543E c.1627C>G 6 109787521 THCA G C Missense p.T345R c.1034C>G 6 109798052 LUAD G C Nonsense p.S608* c.1823C>G 6 109787325 LUSC G T Missense p.S559Y c.1676C>A 6 109787472 BRCA G T Missense p.T138K c.413C>A 6 109802817 STAD GTT - InFrameDeletion p.T139delT c.414_416delAAC 6 109802814 LUSC T A Missense p.Q694L c.2081A>T 6 109787067 LUSC T A Synonymous p.P691P c.2073A>T 6 109787075 THCA T A Synonymous p.V122V c.366A>T 6 109802864 LUSC T C 3-UTRSNV . c.2091+749A>G 6 109786308 HC T C Missense p.I311V c.931A>G 6 109802299 THCA T C Missense p.N604D c.1810A>G 6 109787338 STAD T C Missense p.Q11R c.32A>G 6 109803198 BLCA T C Missense p.T361A c.1081A>G 6 109798005 STAD T C Missense p.Y305C c.914A>G 6 109802316 LUAD T C Synonymous p.L393L c.1179A>G 6 109797403 LUSC T C Synonymous p.Q631Q c.1893A>G 6 109787255 PAAD T G Missense p.N562T c.1685A>C 6 109787463 COREAD