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 7 122337916 122337916 + Missense_Mutation SNP C C T TCGA-DK-A1AC-01A-11D-A13W-08 TCGA-DK-A1AC-10A-01D-A13W-08 g.chr7:122337916C>T c.1057G>A c.(1057-1059)Gag>Aag p.E353K BLCA 7 122338241 122338241 + Silent SNP C C T TCGA-XF-AAMZ-01A-11D-A42E-08 TCGA-XF-AAMZ-10A-01D-A42H-08 g.chr7:122338241C>T c.732G>A c.(730-732)gaG>gaA p.E244E BLCA 7 122338738 122338738 + Missense_Mutation SNP C C G TCGA-C4-A0F0-01A-12D-A10S-08 TCGA-C4-A0F0-10A-01D-A10S-08 g.chr7:122338738C>G c.235G>C c.(235-237)Gag>Cag p.E79Q BRCA 7 122338268 122338268 + Silent SNP T T G TCGA-A2-A0D1-01A-11W-A050-09 TCGA-A2-A0D1-10A-01W-A055-09 g.chr7:122338268T>G c.705A>C c.(703-705)ggA>ggC p.G235G BRCA 7 122338358 122338358 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 g.chr7:122338358G>A c.615C>T c.(613-615)ttC>ttT p.F205F BRCA 7 122338886 122338889 + Frame_Shift_Del DEL CTGA CTGA - TCGA-C8-A12W-01A-11D-A10Y-09 TCGA-C8-A12W-10A-01D-A110-09 g.chr7:122338886_122338889delCTGA c.84_87delTCAG c.(82-87)agtcagfs p.SQ28fs CESC 7 122338231 122338231 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr7:122338231C>T c.742G>A c.(742-744)Gaa>Aaa p.E248K CESC 7 122338409 122338409 + Silent SNP A A G TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 g.chr7:122338409A>G c.564T>C c.(562-564)aaT>aaC p.N188N CESC 7 122338412 122338412 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr7:122338412C>T c.561G>A c.(559-561)atG>atA p.M187I CESC 7 122338779 122338779 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 g.chr7:122338779C>T c.194G>A c.(193-195)aGc>aAc p.S65N COAD 7 122338015 122338015 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr7:122338015G>T c.958C>A c.(958-960)Cta>Ata p.L320I COAD 7 122338124 122338124 + Silent SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr7:122338124A>G c.849T>C c.(847-849)atT>atC p.I283I COAD 7 122338254 122338254 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr7:122338254C>T c.719G>A c.(718-720)cGa>cAa p.R240Q COAD 7 122338267 122338267 + Missense_Mutation SNP G G T TCGA-AA-3819-01A-01W-0900-09 TCGA-AA-3819-10A-01W-0900-09 g.chr7:122338267G>T c.706C>A c.(706-708)Caa>Aaa p.Q236K COAD 7 122338676 122338676 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:122338676C>T c.297G>A c.(295-297)gaG>gaA p.E99E COADREAD 7 122338015 122338015 + Missense_Mutation SNP G G T TCGA-AA-3510-01A-01D-1408-10 TCGA-AA-3510-11A-01D-1408-10 g.chr7:122338015G>T c.958C>A c.(958-960)Cta>Ata p.L320I COADREAD 7 122338124 122338124 + Silent SNP A A G TCGA-A6-5661-01A-01D-1650-10 TCGA-A6-5661-10A-01D-1650-10 g.chr7:122338124A>G c.849T>C c.(847-849)atT>atC p.I283I COADREAD 7 122338254 122338254 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr7:122338254C>T c.719G>A c.(718-720)cGa>cAa p.R240Q COADREAD 7 122338267 122338267 + Missense_Mutation SNP G G T TCGA-AA-3819-01A-01W-0900-09 TCGA-AA-3819-10A-01W-0900-09 g.chr7:122338267G>T c.706C>A c.(706-708)Caa>Aaa p.Q236K COADREAD 7 122338676 122338676 + Silent SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr7:122338676C>T c.297G>A c.(295-297)gaG>gaA p.E99E COADREAD 7 122338728 122338728 + Missense_Mutation SNP A A T TCGA-AG-3898-01A-01W-1073-09 TCGA-AG-3898-10A-01W-1073-09 g.chr7:122338728A>T c.245T>A c.(244-246)aTc>aAc p.I82N DLBC 7 122338071 122338071 + Missense_Mutation SNP A A G TCGA-G8-6325-01A-11D-2210-10 TCGA-G8-6325-10A-01D-2210-10 g.chr7:122338071A>G c.902T>C c.(901-903)cTt>cCt p.L301P DLBC 7 122338257 122338257 + Missense_Mutation SNP A A C TCGA-FF-8042-01A-11D-2210-10 TCGA-FF-8042-10A-01D-2210-10 g.chr7:122338257A>C c.716T>G c.(715-717)cTt>cGt p.L239R DLBC 7 122338664 122338664 + Silent SNP T T C TCGA-G8-6326-01A-11D-2210-10 TCGA-G8-6326-10A-01D-2210-10 g.chr7:122338664T>C c.309A>G c.(307-309)gcA>gcG p.A103A DLBC 7 122338692 122338692 + Missense_Mutation SNP C C T TCGA-FF-8061-01A-11D-2210-10 TCGA-FF-8061-10A-01D-2210-10 g.chr7:122338692C>T c.281G>A c.(280-282)cGa>cAa p.R94Q ESCA 7 122338319 122338319 + Silent SNP A A G TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 g.chr7:122338319A>G c.654T>C c.(652-654)atT>atC p.I218I GBM 7 122338474 122338474 + Missense_Mutation SNP T T G TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 g.chr7:122338474T>G c.499A>C c.(499-501)Att>Ctt p.I167L GBM 7 122338662 122338662 + Missense_Mutation SNP A A C TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 g.chr7:122338662A>C c.311T>G c.(310-312)cTt>cGt p.L104R GBMLGG 7 122338205 122338205 + Silent SNP G G A TCGA-E1-5302-01A-01D-1468-08 TCGA-E1-5302-10A-01D-1468-08 g.chr7:122338205G>A c.768C>T c.(766-768)tgC>tgT p.C256C GBMLGG 7 122338322 122338322 + Missense_Mutation SNP C C G TCGA-DH-A7UT-01A-12D-A34A-08 TCGA-DH-A7UT-10A-01D-A34A-08 g.chr7:122338322C>G c.651G>C c.(649-651)agG>agC p.R217S GBMLGG 7 122338418 122338418 + Missense_Mutation SNP G G C TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 g.chr7:122338418G>C c.555C>G c.(553-555)atC>atG p.I185M GBMLGG 7 122338474 122338474 + Missense_Mutation SNP T T G TCGA-32-1991-01A-01D-1353-08 TCGA-32-1991-10C-01D-1353-08 g.chr7:122338474T>G c.499A>C c.(499-501)Att>Ctt p.I167L GBMLGG 7 122338662 122338662 + Missense_Mutation SNP A A C TCGA-26-5135-01A-01D-1486-08 TCGA-26-5135-10A-01D-1486-08 g.chr7:122338662A>C c.311T>G c.(310-312)cTt>cGt p.L104R HNSC 7 122338281 122338281 + Missense_Mutation SNP T T C TCGA-CQ-7072-01A-21D-A30E-08 TCGA-CQ-7072-10A-01D-A30H-08 g.chr7:122338281T>C c.692A>G c.(691-693)cAg>cGg p.Q231R HNSC 7 122338423 122338423 + Missense_Mutation SNP T T C TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 g.chr7:122338423T>C c.550A>G c.(550-552)Atc>Gtc p.I184V HNSC 7 122338457 122338457 + Silent SNP G G A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr7:122338457G>A c.516C>T c.(514-516)ctC>ctT p.L172L HNSC 7 122338545 122338545 + Missense_Mutation SNP A A C TCGA-CN-6023-01A-11D-1683-08 TCGA-CN-6023-10A-01D-1683-08 g.chr7:122338545A>C c.428T>G c.(427-429)tTt>tGt p.F143C HNSC 7 122338572 122338572 + Missense_Mutation SNP C C A TCGA-CV-5440-01A-01D-1512-08 TCGA-CV-5440-11A-01D-1512-08 g.chr7:122338572C>A c.401G>T c.(400-402)gGt>gTt p.G134V HNSC 7 122338764 122338764 + Missense_Mutation SNP C C A TCGA-CR-7370-01A-11D-2129-08 TCGA-CR-7370-10A-01D-2129-08 g.chr7:122338764C>A c.209G>T c.(208-210)aGa>aTa p.R70I HNSC 7 122338834 122338834 + Missense_Mutation SNP G G A TCGA-CN-A6V6-01A-12D-A34J-08 TCGA-CN-A6V6-10A-01D-A34M-08 g.chr7:122338834G>A c.139C>T c.(139-141)Cat>Tat p.H47Y LGG 7 122338205 122338205 + Silent SNP G G A TCGA-E1-5302-01A-01D-1468-08 TCGA-E1-5302-10A-01D-1468-08 g.chr7:122338205G>A c.768C>T c.(766-768)tgC>tgT p.C256C LGG 7 122338322 122338322 + Missense_Mutation SNP C C G TCGA-DH-A7UT-01A-12D-A34A-08 TCGA-DH-A7UT-10A-01D-A34A-08 g.chr7:122338322C>G c.651G>C c.(649-651)agG>agC p.R217S LGG 7 122338418 122338418 + Missense_Mutation SNP G G C TCGA-P5-A780-01A-12D-A32B-08 TCGA-P5-A780-10A-01D-A329-08 g.chr7:122338418G>C c.555C>G c.(553-555)atC>atG p.I185M LIHC 7 122338762 122338763 + Frame_Shift_Del DEL CT CT - TCGA-BC-4073-01B-02D-A12Z-10 TCGA-BC-4073-10A-01D-A12Z-10 g.chr7:122338762_122338763delCT c.210_211delAG c.(208-213)agagtgfs p.RV70fs LIHC 7 122338822 122338822 + Missense_Mutation SNP G G A TCGA-ZP-A9CV-01A-11D-A382-10 TCGA-ZP-A9CV-10B-01D-A385-10 g.chr7:122338822G>A c.151C>T c.(151-153)Cat>Tat p.H51Y LUAD 7 122338097 122338097 + Silent SNP T T A TCGA-73-4658-01A-01D-1753-08 TCGA-73-4658-11A-01D-1753-08 g.chr7:122338097T>A c.876A>T c.(874-876)acA>acT p.T292T LUAD 7 122338100 122338100 + Silent SNP C C A TCGA-73-4662-01A-01D-1265-08 TCGA-73-4662-11A-01D-1265-08 g.chr7:122338100C>A c.873G>T c.(871-873)ggG>ggT p.G291G LUAD 7 122338115 122338115 + Missense_Mutation SNP C C A TCGA-NJ-A4YF-01A-12D-A25L-08 TCGA-NJ-A4YF-10A-01D-A25L-08 g.chr7:122338115C>A c.858G>T c.(856-858)tgG>tgT p.W286C LUAD 7 122338136 122338136 + Missense_Mutation SNP G G T TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr7:122338136G>T c.837C>A c.(835-837)caC>caA p.H279Q LUAD 7 122338253 122338253 + Silent SNP T T A TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr7:122338253T>A c.720A>T c.(718-720)cgA>cgT p.R240R LUAD 7 122338345 122338345 + Missense_Mutation SNP T T C TCGA-50-6593-01A-11D-1753-08 TCGA-50-6593-11A-01D-1753-08 g.chr7:122338345T>C c.628A>G c.(628-630)Att>Gtt p.I210V LUAD 7 122338380 122338380 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr7:122338380G>A c.593C>T c.(592-594)aCa>aTa p.T198I LUAD 7 122338491 122338491 + Missense_Mutation SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr7:122338491G>A c.482C>T c.(481-483)aCg>aTg p.T161M LUAD 7 122338605 122338605 + Missense_Mutation SNP C C G TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr7:122338605C>G c.368G>C c.(367-369)gGa>gCa p.G123A LUAD 7 122338610 122338610 + Missense_Mutation SNP C C A TCGA-91-6829-01A-21D-1855-08 TCGA-91-6829-11A-01D-1855-08 g.chr7:122338610C>A c.363G>T c.(361-363)gaG>gaT p.E121D LUAD 7 122338615 122338615 + Missense_Mutation SNP T T C TCGA-78-7149-01A-11D-2036-08 TCGA-78-7149-10A-01D-2036-08 g.chr7:122338615T>C c.358A>G c.(358-360)Act>Gct p.T120A LUAD 7 122338652 122338652 + Silent SNP C C A TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 g.chr7:122338652C>A c.321G>T c.(319-321)cgG>cgT p.R107R LUAD 7 122338653 122338653 + Missense_Mutation SNP C C G TCGA-05-4402-01A-01D-1265-08 TCGA-05-4402-10A-01D-1265-08 g.chr7:122338653C>G c.320G>C c.(319-321)cGg>cCg p.R107P LUAD 7 122338680 122338680 + Missense_Mutation SNP G G A TCGA-64-5781-01A-01D-1625-08 TCGA-64-5781-10A-01D-1625-08 g.chr7:122338680G>A c.293C>T c.(292-294)tCa>tTa p.S98L LUAD 7 122338834 122338834 + Missense_Mutation SNP G G A TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr7:122338834G>A c.139C>T c.(139-141)Cat>Tat p.H47Y LUAD 7 122338851 122338851 + Missense_Mutation SNP T T A TCGA-95-7567-01A-11D-2063-08 TCGA-95-7567-10A-01D-2063-08 g.chr7:122338851T>A c.122A>T c.(121-123)tAt>tTt p.Y41F LUSC 7 122338498 122338498 + Nonsense_Mutation SNP T T A TCGA-46-3767-01A-01D-0983-08 TCGA-46-3767-10A-01D-0983-08 g.chr7:122338498T>A c.475A>T c.(475-477)Aaa>Taa p.K159* LUSC 7 122338528 122338528 + Missense_Mutation SNP C C T TCGA-21-5786-01A-01D-1632-08 TCGA-21-5786-10A-01D-1632-08 g.chr7:122338528C>T c.445G>A c.(445-447)Gat>Aat p.D149N LUSC 7 122338572 122338572 + Missense_Mutation SNP C C G TCGA-34-5927-01A-11D-1817-08 TCGA-34-5927-10A-01D-1817-08 g.chr7:122338572C>G c.401G>C c.(400-402)gGt>gCt p.G134A PAAD 7 122338189 122338189 + Missense_Mutation SNP G G A TCGA-RB-A7B8-01A-12D-A33T-08 TCGA-RB-A7B8-10A-01D-A33W-08 g.chr7:122338189G>A c.784C>T c.(784-786)Cgc>Tgc p.R262C PAAD 7 122338787 122338787 + Missense_Mutation SNP A A T TCGA-Q3-A5QY-01A-12D-A32N-08 TCGA-Q3-A5QY-10A-01D-A32N-08 g.chr7:122338787A>T c.186T>A c.(184-186)ttT>ttA p.F62L PRAD 7 122338099 122338099 + Missense_Mutation SNP T T C TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr7:122338099T>C c.874A>G c.(874-876)Aca>Gca p.T292A READ 7 122338728 122338728 + Missense_Mutation SNP A A T TCGA-AG-3898-01A-01W-1073-09 TCGA-AG-3898-10A-01W-1073-09 g.chr7:122338728A>T c.245T>A c.(244-246)aTc>aAc p.I82N SKCM 7 122338165 122338165 + Missense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 g.chr7:122338165G>A c.808C>T c.(808-810)Cgt>Tgt p.R270C SKCM 7 122338165 122338165 + Missense_Mutation SNP G G A TCGA-EE-A2MD-06A-11D-A197-08 TCGA-EE-A2MD-10A-01D-A199-08 g.chr7:122338165G>A c.808C>T c.(808-810)Cgt>Tgt p.R270C SKCM 7 122338165 122338165 + Missense_Mutation SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr7:122338165G>A c.808C>T c.(808-810)Cgt>Tgt p.R270C SKCM 7 122338165 122338165 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr7:122338165G>A c.808C>T c.(808-810)Cgt>Tgt p.R270C SKCM 7 122338180 122338180 + Missense_Mutation SNP G G A TCGA-EE-A182-06A-11D-A196-08 TCGA-EE-A182-10A-01D-A198-08 g.chr7:122338180G>A c.793C>T c.(793-795)Cct>Tct p.P265S SKCM 7 122338182 122338182 + Missense_Mutation SNP T T G TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr7:122338182T>G c.791A>C c.(790-792)aAg>aCg p.K264T SKCM 7 122338308 122338308 + Missense_Mutation SNP C C T TCGA-DA-A3F5-06A-11D-A20D-08 TCGA-DA-A3F5-10A-01D-A20D-08 g.chr7:122338308C>T c.665G>A c.(664-666)aGa>aAa p.R222K SKCM 7 122338449 122338449 + Missense_Mutation SNP G G A TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 g.chr7:122338449G>A c.524C>T c.(523-525)gCc>gTc p.A175V SKCM 7 122338481 122338481 + Silent SNP G G A TCGA-EE-A181-06A-11D-A196-08 TCGA-EE-A181-10A-01D-A198-08 g.chr7:122338481G>A c.492C>T c.(490-492)ttC>ttT p.F164F SKCM 7 122338482 122338482 + Missense_Mutation SNP A A G TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr7:122338482A>G c.491T>C c.(490-492)tTc>tCc p.F164S SKCM 7 122338652 122338652 + Silent SNP C C T TCGA-ER-A42L-06A-11D-A24R-08 TCGA-ER-A42L-10A-01D-A24R-08 g.chr7:122338652C>T c.321G>A c.(319-321)cgG>cgA p.R107R SKCM 7 122338703 122338703 + Silent SNP G G A TCGA-D3-A5GO-06A-12D-A27K-08 TCGA-D3-A5GO-10A-01D-A27N-08 g.chr7:122338703G>A c.270C>T c.(268-270)acC>acT p.T90T

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 7 122342351 122342351 single base substitution C T upstream_gene_variant AML-US 7 122342135 122342135 single base substitution T A upstream_gene_variant BLCA-US 7 122337916 122337916 single base substitution C T missense_variant E353K 1057G>A BLCA-US 7 122338738 122338738 single base substitution C G missense_variant E79Q 235G>C BLCA-US 7 122342732 122342732 single base substitution G C upstream_gene_variant BOCA-FR 7 122342785 122342785 deletion of <=200bp G - upstream_gene_variant BRCA-EU 7 122333242 122333242 single base substitution T C downstream_gene_variant BRCA-EU 7 122334284 122334284 single base substitution G T downstream_gene_variant BRCA-EU 7 122334726 122334726 single base substitution A C downstream_gene_variant BRCA-EU 7 122336692 122336692 single base substitution T C downstream_gene_variant BRCA-EU 7 122336803 122336803 single base substitution G A downstream_gene_variant BRCA-EU 7 122337260 122337260 deletion of <=200bp A - downstream_gene_variant BRCA-EU 7 122337642 122337642 single base substitution C T downstream_gene_variant BRCA-EU 7 122337682 122337682 single base substitution G T downstream_gene_variant BRCA-EU 7 122337933 122337933 single base substitution T C missense_variant D347G 1040A>G BRCA-EU 7 122338318 122338318 single base substitution G A stop_gained Q219* 655C>T BRCA-EU 7 122339497 122339497 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 122339910 122339910 single base substitution T C upstream_gene_variant BRCA-EU 7 122340385 122340385 single base substitution G C upstream_gene_variant BRCA-EU 7 122342058 122342058 single base substitution C T upstream_gene_variant BRCA-EU 7 122342633 122342633 single base substitution C A upstream_gene_variant BRCA-EU 7 122343615 122343615 single base substitution G A upstream_gene_variant BRCA-FR 7 122340585 122340585 single base substitution C G upstream_gene_variant BRCA-KR 7 122338891 122338891 single base substitution T C missense_variant S28G 82A>G BRCA-UK 7 122338168 122338168 single base substitution C T missense_variant V269I 805G>A BRCA-US 7 122338268 122338268 single base substitution T G synonymous_variant G235G 705A>C BRCA-US 7 122338358 122338358 single base substitution G A synonymous_variant F205F 615C>T BRCA-US 7 122338886 122338889 deletion of <=200bp CTGA - frameshift_variant SQ28 BRCA-US 7 122342073 122342073 single base substitution G A upstream_gene_variant BRCA-US 7 122342347 122342347 single base substitution A C upstream_gene_variant BRCA-US 7 122342418 122342418 single base substitution G C upstream_gene_variant BRCA-US 7 122342439 122342439 single base substitution C A upstream_gene_variant BRCA-US 7 122342506 122342506 single base substitution G T upstream_gene_variant BTCA-JP 7 122342775 122342775 single base substitution C T upstream_gene_variant CESC-US 7 122338231 122338231 single base substitution C T missense_variant E248K 742G>A CESC-US 7 122338409 122338409 single base substitution A G synonymous_variant N188N 564T>C CESC-US 7 122338412 122338412 single base substitution C T missense_variant M187I 561G>A CESC-US 7 122338779 122338779 single base substitution C T missense_variant S65N 194G>A CESC-US 7 122342331 122342331 single base substitution C G upstream_gene_variant CLLE-ES 7 122339017 122339017 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant CLLE-ES 7 122342262 122342262 single base substitution T C upstream_gene_variant COAD-US 7 122338015 122338015 single base substitution G T missense_variant L320I 958C>A COAD-US 7 122338124 122338124 single base substitution A G synonymous_variant I283I 849T>C COAD-US 7 122338254 122338254 single base substitution C T missense_variant R240Q 719G>A COAD-US 7 122341936 122341936 deletion of <=200bp A - upstream_gene_variant COAD-US 7 122341983 122341983 single base substitution T C upstream_gene_variant COAD-US 7 122341990 122341990 single base substitution C T upstream_gene_variant COAD-US 7 122342489 122342489 single base substitution C T upstream_gene_variant COAD-US 7 122342706 122342706 single base substitution G A upstream_gene_variant COCA-CN 7 122338654 122338654 single base substitution G A missense_variant R107W 319C>T COCA-CN 7 122342579 122342579 single base substitution C T upstream_gene_variant ESAD-UK 7 122333095 122333095 single base substitution C T downstream_gene_variant ESAD-UK 7 122333878 122333878 single base substitution G T downstream_gene_variant ESAD-UK 7 122334911 122334911 single base substitution G A downstream_gene_variant ESAD-UK 7 122335051 122335051 single base substitution T A downstream_gene_variant ESAD-UK 7 122335218 122335218 single base substitution T C downstream_gene_variant ESAD-UK 7 122336109 122336109 single base substitution T G downstream_gene_variant ESAD-UK 7 122338140 122338140 insertion of <=200bp - A frameshift_variant F278F? ESAD-UK 7 122339660 122339660 single base substitution A C upstream_gene_variant ESAD-UK 7 122340764 122340764 single base substitution G A upstream_gene_variant ESAD-UK 7 122341656 122341656 insertion of <=200bp - A upstream_gene_variant ESCA-CN 7 122342776 122342776 single base substitution G A upstream_gene_variant GBM-US 7 122338474 122338474 single base substitution T G missense_variant I167L 499A>C GBM-US 7 122338662 122338662 single base substitution A C missense_variant L104R 311T>G KIRC-US 7 122341888 122341888 single base substitution T A upstream_gene_variant KIRC-US 7 122342196 122342196 single base substitution G C upstream_gene_variant KIRP-US 7 122338189 122338189 single base substitution G A missense_variant R262C 784C>T LGG-US 7 122338205 122338205 single base substitution G A synonymous_variant C256C 768C>T LICA-CN 7 122338559 122338559 single base substitution C A missense_variant Q138H 414G>T LICA-FR 7 122338964 122338964 single base substitution T C synonymous_variant L3L 9A>G LIHC-US 7 122338762 122338763 deletion of <=200bp CT - frameshift_variant RV70 LIHC-US 7 122342188 122342188 single base substitution T C upstream_gene_variant LIHC-US 7 122342607 122342620 deletion of <=200bp AGAATGATTCCCGA - upstream_gene_variant LINC-JP 7 122336556 122336562 deletion of <=200bp ACCCCAT - downstream_gene_variant LIRI-JP 7 122334692 122334692 single base substitution T C downstream_gene_variant LIRI-JP 7 122336194 122336194 single base substitution C A downstream_gene_variant LIRI-JP 7 122336982 122336982 single base substitution G C downstream_gene_variant LIRI-JP 7 122338868 122338868 single base substitution A G synonymous_variant S35S 105T>C LIRI-JP 7 122339183 122339183 single base substitution C T 5_prime_UTR_variant LIRI-JP 7 122340379 122340379 single base substitution A G upstream_gene_variant LIRI-JP 7 122340405 122340405 single base substitution T C upstream_gene_variant LIRI-JP 7 122342346 122342346 single base substitution C G upstream_gene_variant LIRI-JP 7 122342617 122342617 single base substitution C G upstream_gene_variant LIRI-JP 7 122343689 122343689 single base substitution C A upstream_gene_variant LUSC-KR 7 122335123 122335123 single base substitution A T downstream_gene_variant LUSC-KR 7 122335125 122335125 single base substitution T A downstream_gene_variant LUSC-KR 7 122335846 122335846 single base substitution T A downstream_gene_variant LUSC-KR 7 122342090 122342090 single base substitution G A upstream_gene_variant LUSC-KR 7 122342468 122342468 single base substitution T A upstream_gene_variant LUSC-KR 7 122342861 122342861 single base substitution G C upstream_gene_variant LUSC-KR 7 122343210 122343210 single base substitution T G upstream_gene_variant LUSC-US 7 122338498 122338498 single base substitution T A stop_gained K159* 475A>T LUSC-US 7 122338528 122338528 single base substitution C T missense_variant D149N 445G>A LUSC-US 7 122338572 122338572 single base substitution C G missense_variant G134A 401G>C LUSC-US 7 122341945 122341945 single base substitution G C upstream_gene_variant LUSC-US 7 122342063 122342063 single base substitution C T upstream_gene_variant LUSC-US 7 122342126 122342126 single base substitution G C upstream_gene_variant LUSC-US 7 122342406 122342406 single base substitution T A upstream_gene_variant LUSC-US 7 122342616 122342616 deletion of <=200bp C - upstream_gene_variant MALY-DE 7 122333174 122333174 single base substitution A G downstream_gene_variant MALY-DE 7 122337044 122337044 single base substitution C T downstream_gene_variant MALY-DE 7 122337569 122337569 single base substitution T C downstream_gene_variant MALY-DE 7 122337583 122337583 single base substitution T C downstream_gene_variant MALY-DE 7 122337591 122337591 single base substitution A G downstream_gene_variant MALY-DE 7 122337652 122337652 single base substitution G A downstream_gene_variant MALY-DE 7 122337745 122337745 single base substitution G T downstream_gene_variant MALY-DE 7 122338142 122338142 single base substitution A C missense_variant F277L 831T>G MALY-DE 7 122341199 122341199 single base substitution T C upstream_gene_variant MALY-DE 7 122341736 122341736 single base substitution A C upstream_gene_variant MALY-DE 7 122342566 122342566 single base substitution C A upstream_gene_variant MALY-DE 7 122342896 122342896 single base substitution T C upstream_gene_variant MELA-AU 7 122332791 122332791 single base substitution G A downstream_gene_variant MELA-AU 7 122332984 122332984 single base substitution A G downstream_gene_variant MELA-AU 7 122333011 122333011 single base substitution T C downstream_gene_variant MELA-AU 7 122333397 122333397 single base substitution G A downstream_gene_variant MELA-AU 7 122333468 122333468 single base substitution A G downstream_gene_variant MELA-AU 7 122333481 122333481 single base substitution G A downstream_gene_variant MELA-AU 7 122333565 122333565 single base substitution G A downstream_gene_variant MELA-AU 7 122333623 122333623 single base substitution G A downstream_gene_variant MELA-AU 7 122333690 122333690 single base substitution G A downstream_gene_variant MELA-AU 7 122333728 122333728 single base substitution G A downstream_gene_variant MELA-AU 7 122333921 122333921 single base substitution G A downstream_gene_variant MELA-AU 7 122334051 122334051 single base substitution G A downstream_gene_variant MELA-AU 7 122334844 122334844 single base substitution C A downstream_gene_variant MELA-AU 7 122334892 122334892 single base substitution G A downstream_gene_variant MELA-AU 7 122334953 122334953 single base substitution C A downstream_gene_variant MELA-AU 7 122335497 122335497 single base substitution A G downstream_gene_variant MELA-AU 7 122335887 122335887 single base substitution G A downstream_gene_variant MELA-AU 7 122335911 122335911 single base substitution G A downstream_gene_variant MELA-AU 7 122336125 122336125 single base substitution G A downstream_gene_variant MELA-AU 7 122336294 122336294 single base substitution C T downstream_gene_variant MELA-AU 7 122336478 122336478 single base substitution C T downstream_gene_variant MELA-AU 7 122336507 122336507 single base substitution G A downstream_gene_variant MELA-AU 7 122336586 122336586 single base substitution A C downstream_gene_variant MELA-AU 7 122336620 122336620 single base substitution A C downstream_gene_variant MELA-AU 7 122336752 122336752 single base substitution T A downstream_gene_variant MELA-AU 7 122336946 122336946 single base substitution G A downstream_gene_variant MELA-AU 7 122337227 122337227 single base substitution A T downstream_gene_variant MELA-AU 7 122337958 122337958 single base substitution C T missense_variant E339K 1015G>A MELA-AU 7 122338119 122338119 single base substitution G A missense_variant P285L 854C>T MELA-AU 7 122338165 122338165 single base substitution G A missense_variant R270C 808C>T MELA-AU 7 122338255 122338255 single base substitution G A stop_gained R240* 718C>T MELA-AU 7 122338480 122338480 single base substitution G A missense_variant H165Y 493C>T MELA-AU 7 122338490 122338490 single base substitution C G synonymous_variant T161T 483G>C MELA-AU 7 122338734 122338734 single base substitution C T missense_variant G80E 239G>A MELA-AU 7 122338769 122338769 single base substitution C T synonymous_variant L68L 204G>A MELA-AU 7 122339172 122339172 single base substitution G A 5_prime_UTR_variant MELA-AU 7 122339291 122339291 single base substitution G A upstream_gene_variant MELA-AU 7 122339319 122339319 single base substitution T G upstream_gene_variant MELA-AU 7 122339402 122339402 single base substitution C T upstream_gene_variant MELA-AU 7 122339479 122339479 single base substitution C T upstream_gene_variant MELA-AU 7 122339497 122339498 deletion of <=200bp AA - upstream_gene_variant MELA-AU 7 122339923 122339923 single base substitution T C upstream_gene_variant MELA-AU 7 122340188 122340188 single base substitution C T upstream_gene_variant MELA-AU 7 122340216 122340216 single base substitution C T upstream_gene_variant MELA-AU 7 122340433 122340433 single base substitution G A upstream_gene_variant MELA-AU 7 122340915 122340915 single base substitution C T upstream_gene_variant MELA-AU 7 122341262 122341262 single base substitution G A upstream_gene_variant MELA-AU 7 122341263 122341263 single base substitution G T upstream_gene_variant MELA-AU 7 122341323 122341323 single base substitution G A upstream_gene_variant MELA-AU 7 122341345 122341345 single base substitution G A upstream_gene_variant MELA-AU 7 122341504 122341504 single base substitution G A upstream_gene_variant MELA-AU 7 122341618 122341618 single base substitution C T upstream_gene_variant MELA-AU 7 122341660 122341660 deletion of <=200bp A - upstream_gene_variant MELA-AU 7 122341791 122341791 single base substitution G A upstream_gene_variant MELA-AU 7 122341977 122341977 single base substitution G C upstream_gene_variant MELA-AU 7 122342069 122342069 single base substitution C T upstream_gene_variant MELA-AU 7 122342240 122342240 single base substitution G A upstream_gene_variant MELA-AU 7 122342375 122342375 single base substitution G A upstream_gene_variant MELA-AU 7 122342384 122342384 single base substitution G A upstream_gene_variant MELA-AU 7 122342573 122342573 single base substitution G A upstream_gene_variant MELA-AU 7 122342619 122342619 single base substitution G A upstream_gene_variant MELA-AU 7 122342659 122342659 single base substitution C T upstream_gene_variant MELA-AU 7 122342704 122342705 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 122342761 122342761 single base substitution G A upstream_gene_variant MELA-AU 7 122342796 122342796 single base substitution G A upstream_gene_variant MELA-AU 7 122342878 122342878 single base substitution T G upstream_gene_variant MELA-AU 7 122342963 122342963 single base substitution A T upstream_gene_variant MELA-AU 7 122342991 122342991 single base substitution G A upstream_gene_variant MELA-AU 7 122343177 122343177 single base substitution G A upstream_gene_variant MELA-AU 7 122343961 122343961 single base substitution G A upstream_gene_variant MELA-AU 7 122344183 122344183 single base substitution G A upstream_gene_variant ORCA-IN 7 122336022 122336022 single base substitution A C downstream_gene_variant ORCA-IN 7 122338090 122338090 single base substitution T C missense_variant I295V 883A>G OV-AU 7 122336507 122336507 single base substitution G C downstream_gene_variant OV-AU 7 122336841 122336841 single base substitution T C downstream_gene_variant OV-AU 7 122337676 122337676 single base substitution C T downstream_gene_variant OV-AU 7 122338301 122338301 single base substitution C T synonymous_variant Q224Q 672G>A OV-AU 7 122340879 122340879 single base substitution G T upstream_gene_variant OV-AU 7 122341097 122341097 single base substitution A C upstream_gene_variant OV-AU 7 122344080 122344080 single base substitution A T upstream_gene_variant OV-AU 7 122344083 122344083 single base substitution T A upstream_gene_variant PACA-AU 7 122333095 122333095 single base substitution C T downstream_gene_variant PACA-AU 7 122338348 122338348 single base substitution G A missense_variant H209Y 625C>T PACA-AU 7 122341069 122341069 single base substitution T A upstream_gene_variant PACA-AU 7 122341265 122341265 single base substitution T C upstream_gene_variant PACA-AU 7 122342164 122342164 single base substitution G T upstream_gene_variant PACA-CA 7 122334969 122334969 single base substitution G A downstream_gene_variant PACA-CA 7 122338574 122338574 single base substitution T A synonymous_variant P133P 399A>T PACA-CA 7 122338886 122338886 single base substitution C A missense_variant Q29H 87G>T PACA-CA 7 122343583 122343583 single base substitution T C upstream_gene_variant PACA-CA 7 122343978 122343978 single base substitution G C upstream_gene_variant PAEN-IT 7 122338489 122338489 single base substitution C G missense_variant E162Q 484G>C PBCA-DE 7 122335608 122335608 single base substitution G T downstream_gene_variant PBCA-DE 7 122337486 122337486 single base substitution A T downstream_gene_variant PBCA-DE 7 122339412 122339412 single base substitution G A upstream_gene_variant PBCA-DE 7 122343274 122343274 insertion of <=200bp - T upstream_gene_variant PBCA-DE 7 122343843 122343843 single base substitution C T upstream_gene_variant PRAD-CA 7 122334989 122334989 single base substitution T G downstream_gene_variant PRAD-CA 7 122337682 122337682 single base substitution G T downstream_gene_variant PRAD-UK 7 122334650 122334650 single base substitution T C downstream_gene_variant PRAD-UK 7 122337673 122337673 single base substitution A T downstream_gene_variant PRAD-UK 7 122341509 122341509 single base substitution G A upstream_gene_variant PRAD-UK 7 122342438 122342438 single base substitution C T upstream_gene_variant PRAD-US 7 122342454 122342454 single base substitution G A upstream_gene_variant RECA-EU 7 122337222 122337222 single base substitution A G downstream_gene_variant RECA-EU 7 122341925 122341925 single base substitution T C upstream_gene_variant SKCA-BR 7 122335177 122335177 single base substitution G A downstream_gene_variant SKCA-BR 7 122335365 122335365 single base substitution C T downstream_gene_variant SKCA-BR 7 122339172 122339172 single base substitution G A 5_prime_UTR_variant SKCA-BR 7 122339778 122339778 single base substitution A T upstream_gene_variant SKCA-BR 7 122340592 122340592 single base substitution T C upstream_gene_variant SKCA-BR 7 122341274 122341274 single base substitution G A upstream_gene_variant SKCA-BR 7 122341501 122341501 single base substitution G A upstream_gene_variant SKCA-BR 7 122341504 122341504 single base substitution G A upstream_gene_variant SKCA-BR 7 122343633 122343633 single base substitution G A upstream_gene_variant SKCM-US 7 122337852 122337852 single base substitution G A missense_variant P374L 1121C>T SKCM-US 7 122338165 122338165 single base substitution G A missense_variant R270C 808C>T SKCM-US 7 122338180 122338180 single base substitution G A missense_variant P265S 793C>T SKCM-US 7 122338182 122338182 single base substitution T G missense_variant K264T 791A>C SKCM-US 7 122338308 122338308 single base substitution C T missense_variant R222K 665G>A SKCM-US 7 122338481 122338481 single base substitution G A synonymous_variant F164F 492C>T SKCM-US 7 122338482 122338482 single base substitution A G missense_variant F164S 491T>C SKCM-US 7 122338483 122338483 single base substitution A T missense_variant F164I 490T>A SKCM-US 7 122338646 122338646 single base substitution A G synonymous_variant G109G 327T>C SKCM-US 7 122338703 122338703 single base substitution G A synonymous_variant T90T 270C>T SKCM-US 7 122341965 122341965 single base substitution G A upstream_gene_variant SKCM-US 7 122342004 122342004 single base substitution G A upstream_gene_variant SKCM-US 7 122342240 122342240 single base substitution G T upstream_gene_variant SKCM-US 7 122342352 122342352 single base substitution G C upstream_gene_variant SKCM-US 7 122342384 122342384 single base substitution G A upstream_gene_variant SKCM-US 7 122342400 122342400 single base substitution C A upstream_gene_variant SKCM-US 7 122342428 122342428 single base substitution C T upstream_gene_variant SKCM-US 7 122342533 122342542 deletion of <=200bp TTGGTCAAAG - upstream_gene_variant SKCM-US 7 122342619 122342619 single base substitution G A upstream_gene_variant SKCM-US 7 122342631 122342631 single base substitution C G upstream_gene_variant SKCM-US 7 122342642 122342642 single base substitution C T upstream_gene_variant SKCM-US 7 122342649 122342649 single base substitution G A upstream_gene_variant SKCM-US 7 122342725 122342725 single base substitution A T upstream_gene_variant SKCM-US 7 122342756 122342756 single base substitution C T upstream_gene_variant STAD-US 7 122338188 122338188 single base substitution C T missense_variant R262H 785G>A STAD-US 7 122338523 122338523 single base substitution G A synonymous_variant V150V 450C>T STAD-US 7 122338599 122338599 single base substitution C T missense_variant S125N 374G>A STAD-US 7 122338722 122338722 single base substitution T C missense_variant N84S 251A>G STAD-US 7 122338733 122338733 single base substitution T C synonymous_variant G80G 240A>G STAD-US 7 122338804 122338804 single base substitution C T missense_variant G57R 169G>A STAD-US 7 122341966 122341966 insertion of <=200bp - A upstream_gene_variant STAD-US 7 122341990 122341990 single base substitution C T upstream_gene_variant STAD-US 7 122342061 122342061 single base substitution A G upstream_gene_variant STAD-US 7 122342177 122342177 single base substitution C T upstream_gene_variant STAD-US 7 122342388 122342388 single base substitution T A upstream_gene_variant STAD-US 7 122342486 122342486 single base substitution G A upstream_gene_variant STAD-US 7 122342670 122342670 single base substitution T A upstream_gene_variant STAD-US 7 122342678 122342678 single base substitution T G upstream_gene_variant THCA-US 7 122342453 122342453 single base substitution C T upstream_gene_variant UCEC-US 7 122338164 122338164 single base substitution C T missense_variant R270H 809G>A UCEC-US 7 122338487 122338487 single base substitution T G missense_variant E162D 486A>C UCEC-US 7 122338543 122338543 single base substitution G T missense_variant H144N 430C>A UCEC-US 7 122338702 122338702 single base substitution T C missense_variant I91V 271A>G UCEC-US 7 122341977 122341977 single base substitution G A upstream_gene_variant UCEC-US 7 122342106 122342106 single base substitution C A upstream_gene_variant UCEC-US 7 122342131 122342131 single base substitution C T upstream_gene_variant UCEC-US 7 122342250 122342250 single base substitution C T upstream_gene_variant UCEC-US 7 122342351 122342351 single base substitution C T upstream_gene_variant UCEC-US 7 122342425 122342425 single base substitution A G upstream_gene_variant UCEC-US 7 122342489 122342489 single base substitution C T upstream_gene_variant UCEC-US 7 122342644 122342644 single base substitution G A upstream_gene_variant UCEC-US 7 122342775 122342775 single base substitution C T upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-B5-A11E-01 COSM1084846 c.271A>G p.I91V Substitution - Missense 7:122698648-122698648 - TCGA-34-5927-01 COSM744802 c.401G>C p.G134A Substitution - Missense 7:122698518-122698518 - TCGA-AA-3510-01 COSM1447652 c.958C>A p.L320I Substitution - Missense 7:122697961-122697961 - XHDG34 COSM4769428 c.276C>A p.F92L Substitution - Missense 7:122698643-122698643 - PT08_2 COSM5893259 c.320G>A p.R107Q Substitution - Missense 7:122698599-122698599 - CHC1603T COSM4801892 c.9A>G p.L3L Substitution - coding silent 7:122698910-122698910 - TCGA-EW-A1J5-01 COSM1488178 c.615C>T p.F205F Substitution - coding silent 7:122698304-122698304 - TCGA-B5-A0JY-01 COSM1084845 c.430C>A p.H144N Substitution - Missense 7:122698489-122698489 - 46M COSM5588819 c.734G>A p.G245E Substitution - Missense 7:122698185-122698185 - SJHGG007_A COSM4969034 c.803T>C p.I268T Substitution - Missense 7:122698116-122698116 - TCGA-EB-A3Y7-01 COSM3632569 c.1121C>T p.P374L Substitution - Missense 7:122697798-122697798 - TCGA-GN-A266-06 COSM3632575 c.491T>C p.F164S Substitution - Missense 7:122698428-122698428 - TCGA-EE-A182-06 COSM3632571 c.793C>T p.P265S Substitution - Missense 7:122698126-122698126 - TCGA-CG-5717-01 COSM3877680 c.374G>A p.S125N Substitution - Missense 7:122698545-122698545 - 587278 COSM1223895 c.673C>T p.R225* Substitution - Nonsense 7:122698246-122698246 - CSCC-31-T COSM4545415 c.377G>A p.G126E Substitution - Missense 7:122698542-122698542 - TCGA-DA-A3F5-06 COSM3632573 c.665G>A p.R222K Substitution - Missense 7:122698254-122698254 - LIM2551 COSM1084843 c.809G>A p.R270H Substitution - Missense 7:122698110-122698110 - PT13 COSM5895928 c.661C>T p.R221W Substitution - Missense 7:122698258-122698258 - LUAD-YINHD COSM351501 c.965C>T p.S322L Substitution - Missense 7:122697954-122697954 - TCGA-EE-A181-06 COSM3632574 c.492C>T p.F164F Substitution - coding silent 7:122698427-122698427 - 041T COSM1729527 c.954A>T p.Q318H Substitution - Missense 7:122697965-122697965 - PCSI_0048_Pa_P_526 COSM216772 c.399A>T p.P133P Substitution - coding silent 7:122698520-122698520 - 13280 COSM5617387 c.975G>C p.L325L Substitution - coding silent 7:122697944-122697944 - PD4938a COSM164040 c.805G>A p.V269I Substitution - Missense 7:122698114-122698114 - TCGA-DK-A1AC-01 COSM1312624 c.1057G>A p.E353K Substitution - Missense 7:122697862-122697862 - 30T COSM3715603 c.883A>G p.I295V Substitution - Missense 7:122698036-122698036 - TCGA-NH-A5IV-01 COSM5184328 c.213G>A p.V71V Substitution - coding silent 7:122698706-122698706 - TCGA-C8-A12W-01 COSM5220916 c.84_87delTCAG p.S28fs*14 Deletion - Frameshift 7:122698832-122698835 - TCGA-D5-6540-01 COSM1447654 c.719G>A p.R240Q Substitution - Missense 7:122698200-122698200 - YULAN COSM1699291 c.1024C>T p.P342S Substitution - Missense 7:122697895-122697895 - I2L-P24Tb-Tumor-Organoid COSM5358274 c.596C>A p.T199N Substitution - Missense 7:122698323-122698323 - S02284 COSM5684230 c.357A>T p.A119A Substitution - coding silent 7:122698562-122698562 - TCGA-24-2280-01 COSM116392 c.785G>T p.R262L Substitution - Missense 7:122698134-122698134 - TCGA-AA-A010-01 COSM299472 c.297G>A p.E99E Substitution - coding silent 7:122698622-122698622 - RK308_C01 COSM3745505 c.105T>C p.S35S Substitution - coding silent 7:122698814-122698814 - TCGA-EE-A2MD-06 COSM3632570 c.808C>T p.R270C Substitution - Missense 7:122698111-122698111 - KPOPBR-03-T COSM5965500 c.82A>G p.S28G Substitution - Missense 7:122698837-122698837 - LUAD-QY22Z COSM394827 c.569A>G p.Y190C Substitution - Missense 7:122698350-122698350 - TCGA-32-1991-01 COSM3411532 c.499A>C p.I167L Substitution - Missense 7:122698420-122698420 - TCGA-D7-A4YY-01 COSM2767116 c.450C>T p.V150V Substitution - coding silent 7:122698469-122698469 - TCGA-EB-A3Y7-01 COSM3632576 c.490T>A p.F164I Substitution - Missense 7:122698429-122698429 - 2367456 COSM5004131 c.219A>G p.G73G Substitution - coding silent 7:122698700-122698700 - 61 COSM2767097 c.833_834insT p.H279fs*6 Insertion - Frameshift 7:122698085-122698086 - YUROG COSM3394500 c.625C>T p.H209Y Substitution - Missense 7:122698294-122698294 - 2492723 COSM5721059 c.484G>A p.E162K Substitution - Missense 7:122698435-122698435 - L21 COSM1729527 c.954A>T p.Q318H Substitution - Missense 7:122697965-122697965 - 505 COSM5611879 c.262C>G p.P88A Substitution - Missense 7:122698657-122698657 - AOCS-162-1-1 COSM4153800 c.672G>A p.Q224Q Substitution - coding silent 7:122698247-122698247 - LUAD-B00416 COSM331527 c.868C>A p.H290N Substitution - Missense 7:122698051-122698051 - PT21_2 COSM5340378 c.139C>T p.H47Y Substitution - Missense 7:122698780-122698780 - B099 COSM308136 c.454G>T p.V152L Substitution - Missense 7:122698465-122698465 - PT23_2 COSM5903658 c.462G>A p.M154I Substitution - Missense 7:122698457-122698457 - 360_T COSM3949843 c.558G>A p.W186* Substitution - Nonsense 7:122698361-122698361 - Au1 COSM3632570 c.808C>T p.R270C Substitution - Missense 7:122698111-122698111 - TCGA-CG-5721-01 COSM3877681 c.251A>G p.N84S Substitution - Missense 7:122698668-122698668 - 49M COSM1488178 c.615C>T p.F205F Substitution - coding silent 7:122698304-122698304 - TCGA-AA-3819-01 COSM270978 c.706C>A p.Q236K Substitution - Missense 7:122698213-122698213 - TCGA-46-3767-01 COSM744804 c.475A>T p.K159* Substitution - Nonsense 7:122698444-122698444 - I2L-P24Ta-Tumor-Biopsy COSM5358274 c.596C>A p.T199N Substitution - Missense 7:122698323-122698323 - TCGA-CM-6171-01 COSM5160289 c.118G>A p.A40T Substitution - Missense 7:122698801-122698801 - LUAD_E00522 COSM353473 c.274T>G p.F92V Substitution - Missense 7:122698645-122698645 - 8036161 COSM3394500 c.625C>T p.H209Y Substitution - Missense 7:122698294-122698294 - TCGA-EE-A3JI-06 COSM3632572 c.791A>C p.K264T Substitution - Missense 7:122698128-122698128 - TCGA-BT-A2LA-01 COSM1312625 c.389A>G p.Y130C Substitution - Missense 7:122698530-122698530 - I2L-P24Tb-Tumor-Biopsy COSM5358274 c.596C>A p.T199N Substitution - Missense 7:122698323-122698323 - TCGA-BR-8487-01 COSM3877682 c.240A>G p.G80G Substitution - coding silent 7:122698679-122698679 - TCGA-AX-A0J0-01 COSM1084844 c.486A>C p.E162D Substitution - Missense 7:122698433-122698433 - A549 COSM1673498 c.284C>G p.S95* Substitution - Nonsense 7:122698635-122698635 - I2L-P24Ta-Tumor-Organoid COSM5358274 c.596C>A p.T199N Substitution - Missense 7:122698323-122698323 - TCGA-AP-A059-01 COSM1084843 c.809G>A p.R270H Substitution - Missense 7:122698110-122698110 - OSCC-GB_00300111 COSM3715603 c.883A>G p.I295V Substitution - Missense 7:122698036-122698036 - WT015 COSM5351828 c.930T>C p.V310V Substitution - coding silent 7:122697989-122697989 - U87 COSM2767112 c.467G>C p.G156A Substitution - Missense 7:122698452-122698452 - TCGA-F1-A448-01 COSM2767098 c.785G>A p.R262H Substitution - Missense 7:122698134-122698134 - TCGA-DA-A1I5-06 COSM3632570 c.808C>T p.R270C Substitution - Missense 7:122698111-122698111 - PT21_1 COSM5900905 c.938G>A p.G313E Substitution - Missense 7:122697981-122697981 - TCGA-IR-A3LA-01 COSM4845190 c.742G>A p.E248K Substitution - Missense 7:122698177-122698177 - TCGA-E1-5302-01 COSM3928791 c.768C>T p.C256C Substitution - coding silent 7:122698151-122698151 - ESCC_108 COSM5638740 c.281G>T p.R94L Substitution - Missense 7:122698638-122698638 - MD-141 COSM303120 c.698C>T p.T233I Substitution - Missense 7:122698221-122698221 - TCGA-IR-A3LA-01 COSM4552526 c.561G>A p.M187I Substitution - Missense 7:122698358-122698358 - TCGA-A2-A0D1-01 COSM452234 c.705A>C p.G235G Substitution - coding silent 7:122698214-122698214 - TCGA-26-5135-01 COSM3411533 c.311T>G p.L104R Substitution - Missense 7:122698608-122698608 - TCGA-AG-A02N-01 COSM5074993 c.483G>A p.T161T Substitution - coding silent 7:122698436-122698436 - sysucc-627T COSM5468108 c.319C>T p.R107W Substitution - Missense 7:122698600-122698600 - CSCC-11-T COSM4519546 c.1015G>A p.E339K Substitution - Missense 7:122697904-122697904 - PT08_1 COSM5893259 c.320G>A p.R107Q Substitution - Missense 7:122698599-122698599 - ESCC_82 COSM5636183 c.985T>A p.L329I Substitution - Missense 7:122697934-122697934 - HCC149T COSM5817285 c.414G>T p.Q138H Substitution - Missense 7:122698505-122698505 - 49M COSM5592907 c.718C>T p.R240* Substitution - Nonsense 7:122698201-122698201 - TCGA-BF-A1PX-01 COSM4905092 c.327T>C p.G109G Substitution - coding silent 7:122698592-122698592 - 2492722 COSM5721059 c.484G>A p.E162K Substitution - Missense 7:122698435-122698435 - 260211 COSM3725812 c.435G>T p.Q145H Substitution - Missense 7:122698484-122698484 - Patient_1 COSM5413929 c.468T>A p.G156G Substitution - coding silent 7:122698451-122698451 - 2492721 COSM5721059 c.484G>A p.E162K Substitution - Missense 7:122698435-122698435 - CHC1603T COSM4801892 c.9A>G p.L3L Substitution - coding silent 7:122698910-122698910 - TCGA-IA-A40Y-01 COSM2767099 c.784C>T p.R262C Substitution - Missense 7:122698135-122698135 - TCGA-AA-3994-01 COSM5120662 c.37_38insACA p.N12_T13insN Insertion - In frame 7:122698881-122698882 - CSCC-10-T COSM4552526 c.561G>A p.M187I Substitution - Missense 7:122698358-122698358 - 2492720 COSM5721059 c.484G>A p.E162K Substitution - Missense 7:122698435-122698435 - TCGA-AG-3898-01 COSM258721 c.245T>A p.I82N Substitution - Missense 7:122698674-122698674 - XHDG04 COSM4768181 c.680C>T p.T227I Substitution - Missense 7:122698239-122698239 - TCGA-EK-A2PM-01 COSM4831660 c.564T>C p.N188N Substitution - coding silent 7:122698355-122698355 - TCGA-FU-A3HZ-01 COSM4840385 c.194G>A p.S65N Substitution - Missense 7:122698725-122698725 - TCGA-CG-4306-01 COSM3877683 c.169G>A p.G57R Substitution - Missense 7:122698750-122698750 - TCGA-21-5786-01 COSM744803 c.445G>A p.D149N Substitution - Missense 7:122698474-122698474 - MPCC_0037_Pa_C COSM3381782 c.87G>T p.Q29H Substitution - Missense 7:122698832-122698832 - tumor_4139696 COSM3358083 c.831T>G p.F277L Substitution - Missense 7:122698088-122698088 - PT55 COSM5942161 c.539G>A p.G180E Substitution - Missense 7:122698380-122698380 - TCGA-D3-A5GO-06 COSM3632577 c.270C>T p.T90T Substitution - coding silent 7:122698649-122698649 - CSCC-40-T COSM4557627 c.736G>A p.D246N Substitution - Missense 7:122698183-122698183 - TCGA-AA-3833-01 COSM5112093 c.833delT p.F278fs*43 Deletion - Frameshift 7:122698086-122698086 - 993T COSM5825077 c.484G>C p.E162Q Substitution - Missense 7:122698435-122698435 - TCGA-EE-A3AA-06 COSM3632570 c.808C>T p.R270C Substitution - Missense 7:122698111-122698111 - PCSI0048 COSM216772 c.399A>T p.P133P Substitution - coding silent 7:122698520-122698520 - PD7067a COSM5793269 c.1040A>G p.D347G Substitution - Missense 7:122697879-122697879 - 13 COSM5732783 c.101C>T p.A34V Substitution - Missense 7:122698818-122698818 - TCGA-AF-3911-01 COSM5065356 c.662G>A p.R221Q Substitution - Missense 7:122698257-122698257 - TCGA-FW-A3R5-06 COSM3632570 c.808C>T p.R270C Substitution - Missense 7:122698111-122698111 - TCGA-A6-5661-01 COSM1447653 c.849T>C p.I283I Substitution - coding silent 7:122698070-122698070 - CSCC-27-T COSM4493758 c.420C>T p.F140F Substitution - coding silent 7:122698499-122698499 - 1953_T COSM3949842 c.567C>G p.H189Q Substitution - Missense 7:122698352-122698352 - 60T COSM108159 c.1003G>A p.E335K Substitution - Missense 7:122697916-122697916 - Pat_06_A COSM5871704 c.1025C>A p.P342H Substitution - Missense 7:122697894-122697894 - CSCC-56-T COSM4571822 c.551T>C p.I184T Substitution - Missense 7:122698368-122698368 - PCSI_0048_Pa_P COSM216772 c.399A>T p.P133P Substitution - coding silent 7:122698520-122698520 - TCGA-C4-A0F0-01 COSM421620 c.235G>C p.E79Q Substitution - Missense 7:122698684-122698684 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.126714;Hs.126715;Hs.126730 7q31.32

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F143C c.428T>G 7 122338545 HNSC A C Missense p.I155M c.465T>G 7 122338508 MM A C Missense p.L104R c.311T>G 7 122338662 GBM A T Missense p.I82N c.245T>A 7 122338728 COREAD C A Missense p.E121D c.363G>T 7 122338610 LUAD C A Missense p.G134V c.401G>T 7 122338572 HNSC C A Missense p.G49W c.145G>T 7 122338828 CM C A Missense p.L56F c.168G>T 7 122338805 LUAD C A Missense p.R262L c.785G>T 7 122338188 OV C A Missense p.R70I c.209G>T 7 122338764 HNSC CC AG Missense p.R107P c.320_321delinsCT 7 122338652 LUAD C G Missense p.E79Q c.235G>C 7 122338738 BLCA C G Missense p.G123A c.368G>C 7 122338605 LUAD C G Missense p.G134A c.401G>C 7 122338572 LUSC C T Missense p.D149N c.445G>A 7 122338528 LUSC C T Missense p.D371N c.1111G>A 7 122337862 CM C T Missense p.G57R c.169G>A 7 122338804 STAD C T Missense p.R222K c.665G>A 7 122338308 CM C T Missense p.S125N c.374G>A 7 122338599 STAD C T Missense p.V151I c.451G>A 7 122338522 BRCA C T Missense p.V269I c.805G>A 7 122338168 BRCA G A Missense p.P265S c.793C>T 7 122338180 CM G A Missense p.P374L c.1121C>T 7 122337852 CM G A Missense p.R270C c.808C>T 7 122338165 CM G A Missense p.S98L c.293C>T 7 122338680 LUAD G T Missense p.Q236K c.706C>A 7 122338267 COREAD T A Nonsense p.K159* c.475A>T 7 122338498 LUSC T C Missense p.I184V c.550A>G 7 122338423 HNSC T C Missense p.I210V c.628A>G 7 122338345 LUAD T C Missense p.Y130C c.389A>G 7 122338584 BLCA T C Missense p.Y41C c.122A>G 7 122338851 STAD T G Missense p.I167L c.499A>C 7 122338474 GBM T G Missense p.K264T c.791A>C 7 122338182 CM