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 23 68381656 68381656 + Missense_Mutation SNP C C T TCGA-DK-A3IQ-01A-31D-A20D-08 TCGA-DK-A3IQ-10A-01D-A20D-08 g.chrX:68381656C>T c.1426G>A c.(1426-1428)Gat>Aat p.D476N BLCA 23 68381781 68381781 + Missense_Mutation SNP C C G TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chrX:68381781C>G c.1301G>C c.(1300-1302)gGc>gCc p.G434A BLCA 23 68382055 68382055 + Missense_Mutation SNP G G A TCGA-2F-A9KT-01A-11D-A38G-08 TCGA-2F-A9KT-10A-01D-A38J-08 g.chrX:68382055G>A c.1027C>T c.(1027-1029)Cgc>Tgc p.R343C BLCA 23 68382149 68382149 + Silent SNP C C T TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chrX:68382149C>T c.933G>A c.(931-933)gaG>gaA p.E311E BLCA 23 68382314 68382314 + Silent SNP G G C TCGA-4Z-AA7R-01A-11D-A391-08 TCGA-4Z-AA7R-10A-01D-A394-08 g.chrX:68382314G>C c.768C>G c.(766-768)gtC>gtG p.V256V BLCA 23 68382762 68382762 + Missense_Mutation SNP G G A TCGA-DK-A3IL-01A-11D-A20D-08 TCGA-DK-A3IL-10A-01D-A20D-08 g.chrX:68382762G>A c.320C>T c.(319-321)tCg>tTg p.S107L BLCA 23 68382895 68382895 + Missense_Mutation SNP G G C TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chrX:68382895G>C c.187C>G c.(187-189)Caa>Gaa p.Q63E BLCA 23 68383030 68383030 + Nonsense_Mutation SNP G G A TCGA-S5-A6DX-01A-11D-A31L-08 TCGA-S5-A6DX-10A-01D-A31J-08 g.chrX:68383030G>A c.52C>T c.(52-54)Cag>Tag p.Q18* BRCA 23 68381469 68381469 + Missense_Mutation SNP A A G TCGA-AN-A0FL-01A-11W-A050-09 TCGA-AN-A0FL-10A-01W-A055-09 g.chrX:68381469A>G c.1613T>C c.(1612-1614)aTg>aCg p.M538T BRCA 23 68381728 68381728 + Missense_Mutation SNP C C G TCGA-BH-A0B6-01A-11D-A19Y-09 TCGA-BH-A0B6-10A-01D-A19Y-09 g.chrX:68381728C>G c.1354G>C c.(1354-1356)Gag>Cag p.E452Q BRCA 23 68381749 68381749 + Nonsense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chrX:68381749G>A c.1333C>T c.(1333-1335)Cga>Tga p.R445* BRCA 23 68382056 68382056 + Silent SNP T T C TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chrX:68382056T>C c.1026A>G c.(1024-1026)cgA>cgG p.R342R BRCA 23 68382137 68382137 + Silent SNP G G C TCGA-E9-A1R3-01A-31D-A14K-09 TCGA-E9-A1R3-10A-01D-A14K-09 g.chrX:68382137G>C c.945C>G c.(943-945)ggC>ggG p.G315G BRCA 23 68382257 68382257 + Frame_Shift_Del DEL A A - TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chrX:68382257delA c.825delT c.(823-825)tttfs p.F275fs BRCA 23 68382501 68382501 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chrX:68382501C>T c.581G>A c.(580-582)aGa>aAa p.R194K BRCA 23 68382547 68382547 + Nonsense_Mutation SNP G G A TCGA-E2-A14O-01A-31D-A10Y-09 TCGA-E2-A14O-10A-01D-A110-09 g.chrX:68382547G>A c.535C>T c.(535-537)Cga>Tga p.R179* BRCA 23 68382676 68382676 + Nonsense_Mutation SNP G G A TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chrX:68382676G>A c.406C>T c.(406-408)Cga>Tga p.R136* BRCA 23 68382697 68382697 + Missense_Mutation SNP C C T TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chrX:68382697C>T c.385G>A c.(385-387)Gag>Aag p.E129K BRCA 23 68382750 68382750 + Missense_Mutation SNP C C G TCGA-D8-A27G-01A-11D-A16D-09 TCGA-D8-A27G-10A-01D-A16D-09 g.chrX:68382750C>G c.332G>C c.(331-333)aGa>aCa p.R111T BRCA 23 68382802 68382802 + Missense_Mutation SNP C C T TCGA-BH-A0DZ-01A-11W-A019-09 TCGA-BH-A0DZ-10A-01W-A021-09 g.chrX:68382802C>T c.280G>A c.(280-282)Gag>Aag p.E94K BRCA 23 68382828 68382828 + Missense_Mutation SNP G G A TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 g.chrX:68382828G>A c.254C>T c.(253-255)tCg>tTg p.S85L BRCA 23 68383057 68383057 + Missense_Mutation SNP C C A TCGA-A1-A0SK-01A-12D-A099-09 TCGA-A1-A0SK-10A-03D-A099-09 g.chrX:68383057C>A c.25G>T c.(25-27)Gta>Tta p.V9L CESC 23 68381222 68381222 + Silent SNP C C T TCGA-EX-A1H6-01B-11D-A22X-09 TCGA-EX-A1H6-10A-01D-A22X-09 g.chrX:68381222C>T c.1860G>A c.(1858-1860)ccG>ccA p.P620P CESC 23 68382228 68382228 + Missense_Mutation SNP T T C TCGA-EA-A4BA-01A-21D-A26G-09 TCGA-EA-A4BA-10A-01D-A26G-09 g.chrX:68382228T>C c.854A>G c.(853-855)cAc>cGc p.H285R CESC 23 68383010 68383010 + Silent SNP C C T TCGA-C5-A1BI-01B-11D-A13W-08 TCGA-C5-A1BI-10A-01D-A13W-08 g.chrX:68383010C>T c.72G>A c.(70-72)agG>agA p.R24R CHOL 23 68382847 68382847 + Missense_Mutation SNP A A G TCGA-YR-A95A-01A-12D-A417-09 TCGA-YR-A95A-10A-01D-A41A-09 g.chrX:68382847A>G c.235T>C c.(235-237)Tgg>Cgg p.W79R COAD 23 68381406 68381406 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chrX:68381406G>A c.1676C>T c.(1675-1677)gCa>gTa p.A559V COAD 23 68381407 68381407 + Missense_Mutation SNP C C T TCGA-AA-3695-01A-01W-0900-09 TCGA-AA-3695-10A-01W-0900-09 g.chrX:68381407C>T c.1675G>A c.(1675-1677)Gca>Aca p.A559T COAD 23 68382054 68382054 + Missense_Mutation SNP C C T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chrX:68382054C>T c.1028G>A c.(1027-1029)cGc>cAc p.R343H COAD 23 68382110 68382110 + Silent SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chrX:68382110G>A c.972C>T c.(970-972)gaC>gaT p.D324D COAD 23 68382240 68382242 + In_Frame_Del DEL TCA TCA - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chrX:68382240_68382242delTCA c.840_842delTGA c.(838-843)gatgac>gac p.280_281DD>D COAD 23 68382315 68382315 + Missense_Mutation SNP A A T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chrX:68382315A>T c.767T>A c.(766-768)gTc>gAc p.V256D COAD 23 68382324 68382324 + Missense_Mutation SNP T T C TCGA-AA-3531-01A-01W-0831-10 TCGA-AA-3531-10A-01W-0831-10 g.chrX:68382324T>C c.758A>G c.(757-759)gAa>gGa p.E253G COAD 23 68382387 68382387 + Missense_Mutation SNP C C T TCGA-DM-A1D8-01A-11D-A152-10 TCGA-DM-A1D8-10A-01D-A152-10 g.chrX:68382387C>T c.695G>A c.(694-696)cGt>cAt p.R232H COADREAD 23 68381193 68381193 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:68381193C>T c.1889G>A c.(1888-1890)gGc>gAc p.G630D COADREAD 23 68381406 68381406 + Missense_Mutation SNP G G A TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chrX:68381406G>A c.1676C>T c.(1675-1677)gCa>gTa p.A559V COADREAD 23 68381407 68381407 + Missense_Mutation SNP C C T TCGA-AA-3695-01A-01W-0900-09 TCGA-AA-3695-10A-01W-0900-09 g.chrX:68381407C>T c.1675G>A c.(1675-1677)Gca>Aca p.A559T COADREAD 23 68382054 68382054 + Missense_Mutation SNP C C T TCGA-AA-A00E-01A-01W-A005-10 TCGA-AA-A00E-10A-01W-A005-10 g.chrX:68382054C>T c.1028G>A c.(1027-1029)cGc>cAc p.R343H COADREAD 23 68382110 68382110 + Silent SNP G G A TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chrX:68382110G>A c.972C>T c.(970-972)gaC>gaT p.D324D COADREAD 23 68382240 68382242 + In_Frame_Del DEL TCA TCA - TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chrX:68382240_68382242delTCA c.840_842delTGA c.(838-843)gatgac>gac p.280_281DD>D COADREAD 23 68382315 68382315 + Missense_Mutation SNP A A T TCGA-F4-6856-01A-11D-1924-10 TCGA-F4-6856-10A-01D-1924-10 g.chrX:68382315A>T c.767T>A c.(766-768)gTc>gAc p.V256D COADREAD 23 68382324 68382324 + Missense_Mutation SNP T T C TCGA-AA-3531-01A-01W-0831-10 TCGA-AA-3531-10A-01W-0831-10 g.chrX:68382324T>C c.758A>G c.(757-759)gAa>gGa p.E253G COADREAD 23 68382387 68382387 + Missense_Mutation SNP C C T TCGA-DM-A1D8-01A-11D-A152-10 TCGA-DM-A1D8-10A-01D-A152-10 g.chrX:68382387C>T c.695G>A c.(694-696)cGt>cAt p.R232H COADREAD 23 68382762 68382762 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:68382762G>A c.320C>T c.(319-321)tCg>tTg p.S107L DLBC 23 68382422 68382422 + Silent SNP C C T TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chrX:68382422C>T c.660G>A c.(658-660)tcG>tcA p.S220S ESCA 23 68382727 68382727 + Missense_Mutation SNP C C T TCGA-RE-A7BO-01A-11D-A33E-09 TCGA-RE-A7BO-10A-01D-A33H-09 g.chrX:68382727C>T c.355G>A c.(355-357)Gac>Aac p.D119N ESCA 23 68382750 68382750 + Missense_Mutation SNP C C A TCGA-L5-A4OM-01A-11D-A27G-09 TCGA-L5-A4OM-11A-11D-A27G-09 g.chrX:68382750C>A c.332G>T c.(331-333)aGa>aTa p.R111I HNSC 23 68381193 68381193 + Missense_Mutation SNP C C T TCGA-UF-A71D-01A-12D-A34J-08 TCGA-UF-A71D-10B-01D-A34M-08 g.chrX:68381193C>T c.1889G>A c.(1888-1890)gGc>gAc p.G630D HNSC 23 68381791 68381791 + Missense_Mutation SNP C C T TCGA-BA-A6DF-01A-11D-A30E-08 TCGA-BA-A6DF-10A-01D-A30H-08 g.chrX:68381791C>T c.1291G>A c.(1291-1293)Gcc>Acc p.A431T HNSC 23 68381831 68381831 + Silent SNP A A C TCGA-CV-5966-01A-11D-1683-08 TCGA-CV-5966-10A-01D-1870-08 g.chrX:68381831A>C c.1251T>G c.(1249-1251)ccT>ccG p.P417P HNSC 23 68382107 68382107 + Missense_Mutation SNP T T A TCGA-CN-5360-01A-01D-1434-08 TCGA-CN-5360-10A-01D-1434-08 g.chrX:68382107T>A c.975A>T c.(973-975)aaA>aaT p.K325N KICH 23 68382228 68382228 + Missense_Mutation SNP T T A TCGA-KL-8326-01A-11D-2310-10 TCGA-KL-8326-11A-01D-2310-10 g.chrX:68382228T>A c.854A>T c.(853-855)cAc>cTc p.H285L KIPAN 23 68382228 68382228 + Missense_Mutation SNP T T A TCGA-KL-8326-01A-11D-2310-10 TCGA-KL-8326-11A-01D-2310-10 g.chrX:68382228T>A c.854A>T c.(853-855)cAc>cTc p.H285L KIPAN 23 68382325 68382325 + Missense_Mutation SNP C C G TCGA-B8-5164-01A-01D-1421-08 TCGA-B8-5164-10A-01D-1421-08 g.chrX:68382325C>G c.757G>C c.(757-759)Gaa>Caa p.E253Q KIPAN 23 68382878 68382878 + Silent SNP G G A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 g.chrX:68382878G>A c.204C>T c.(202-204)agC>agT p.S68S KIRC 23 68382325 68382325 + Missense_Mutation SNP C C G TCGA-B8-5164-01A-01D-1421-08 TCGA-B8-5164-10A-01D-1421-08 g.chrX:68382325C>G c.757G>C c.(757-759)Gaa>Caa p.E253Q KIRC 23 68382878 68382878 + Silent SNP G G A TCGA-CJ-4900-01A-01D-1462-08 TCGA-CJ-4900-11A-01D-1462-08 g.chrX:68382878G>A c.204C>T c.(202-204)agC>agT p.S68S LIHC 23 68381880 68381880 + Missense_Mutation SNP T T C TCGA-EP-A2KB-01A-11D-A183-10 TCGA-EP-A2KB-10A-01D-A183-10 g.chrX:68381880T>C c.1202A>G c.(1201-1203)gAg>gGg p.E401G LIHC 23 68382107 68382107 + Silent SNP T T C TCGA-FV-A2QR-01A-11D-A20W-10 TCGA-FV-A2QR-11A-11D-A20W-10 g.chrX:68382107T>C c.975A>G c.(973-975)aaA>aaG p.K325K LIHC 23 68382256 68382257 + Frame_Shift_Ins INS - - A TCGA-BC-A112-01A-11D-A12Z-10 TCGA-BC-A112-11A-11D-A12Z-10 g.chrX:68382256_68382257insA c.825_826insT c.(823-828)tttgatfs p.D276fs LUAD 23 68381182 68381182 + Missense_Mutation SNP C C A TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chrX:68381182C>A c.1900G>T c.(1900-1902)Gtg>Ttg p.V634L LUAD 23 68381543 68381543 + Silent SNP G G A TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chrX:68381543G>A c.1539C>T c.(1537-1539)ctC>ctT p.L513L LUAD 23 68381557 68381557 + Missense_Mutation SNP C C A TCGA-17-Z013-01A-01W-0746-08 TCGA-17-Z013-11A-01W-0746-08 g.chrX:68381557C>A c.1525G>T c.(1525-1527)Gtg>Ttg p.V509L LUAD 23 68381584 68381584 + Missense_Mutation SNP C C T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chrX:68381584C>T c.1498G>A c.(1498-1500)Gac>Aac p.D500N LUAD 23 68381607 68381607 + Missense_Mutation SNP T T A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 g.chrX:68381607T>A c.1475A>T c.(1474-1476)gAt>gTt p.D492V LUAD 23 68381718 68381718 + Missense_Mutation SNP G G T TCGA-97-A4M0-01A-11D-A24P-08 TCGA-97-A4M0-10A-01D-A24P-08 g.chrX:68381718G>T c.1364C>A c.(1363-1365)tCc>tAc p.S455Y LUAD 23 68381829 68381829 + Missense_Mutation SNP C C A TCGA-44-3398-01A-01D-1105-08 TCGA-44-3398-10A-01D-1105-08 g.chrX:68381829C>A c.1253G>T c.(1252-1254)gGc>gTc p.G418V LUAD 23 68381849 68381849 + Frame_Shift_Del DEL G G - TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chrX:68381849delG c.1233delC c.(1231-1233)gccfs p.A411fs LUAD 23 68381893 68381893 + Missense_Mutation SNP G G A TCGA-75-6207-01A-11D-1753-08 TCGA-75-6207-10A-01D-1753-08 g.chrX:68381893G>A c.1189C>T c.(1189-1191)Ccg>Tcg p.P397S LUAD 23 68381937 68381937 + Missense_Mutation SNP C C G TCGA-73-4668-01A-01D-1265-08 TCGA-73-4668-11A-01D-1265-08 g.chrX:68381937C>G c.1145G>C c.(1144-1146)cGa>cCa p.R382P LUAD 23 68381955 68381955 + Missense_Mutation SNP C C T TCGA-50-6592-01A-11D-1753-08 TCGA-50-6592-11A-01D-1753-08 g.chrX:68381955C>T c.1127G>A c.(1126-1128)cGt>cAt p.R376H LUAD 23 68382049 68382049 + Missense_Mutation SNP T T G TCGA-05-4389-01A-01D-1265-08 TCGA-05-4389-10A-01D-1265-08 g.chrX:68382049T>G c.1033A>C c.(1033-1035)Atg>Ctg p.M345L LUAD 23 68382067 68382067 + Missense_Mutation SNP G G A TCGA-49-4514-01A-21D-1855-08 TCGA-49-4514-11A-01D-1855-08 g.chrX:68382067G>A c.1015C>T c.(1015-1017)Ccg>Tcg p.P339S LUAD 23 68382632 68382632 + Missense_Mutation SNP C C A TCGA-64-1679-01A-21D-2063-08 TCGA-64-1679-10A-01D-2063-08 g.chrX:68382632C>A c.450G>T c.(448-450)aaG>aaT p.K150N LUAD 23 68382689 68382689 + Silent SNP A A T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 g.chrX:68382689A>T c.393T>A c.(391-393)gcT>gcA p.A131A LUAD 23 68382735 68382735 + Missense_Mutation SNP C C A TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chrX:68382735C>A c.347G>T c.(346-348)gGa>gTa p.G116V LUAD 23 68382833 68382833 + Silent SNP C C T TCGA-97-8547-01A-11D-2393-08 TCGA-97-8547-10A-01D-2393-08 g.chrX:68382833C>T c.249G>A c.(247-249)gaG>gaA p.E83E LUSC 23 68381405 68381405 + Silent SNP T T C TCGA-22-1012-01A-01D-1521-08 TCGA-22-1012-11A-01D-1521-08 g.chrX:68381405T>C c.1677A>G c.(1675-1677)gcA>gcG p.A559A LUSC 23 68382648 68382648 + Missense_Mutation SNP T T A TCGA-60-2722-01A-01D-1522-08 TCGA-60-2722-11A-01D-1522-08 g.chrX:68382648T>A c.434A>T c.(433-435)aAg>aTg p.K145M LUSC 23 68383037 68383037 + Silent SNP T T A TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 g.chrX:68383037T>A c.45A>T c.(43-45)ggA>ggT p.G15G PAAD 23 68382464 68382464 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:68382464C>A c.618G>T c.(616-618)caG>caT p.Q206H PAAD 23 68382676 68382676 + Nonsense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:68382676G>A c.406C>T c.(406-408)Cga>Tga p.R136* PAAD 23 68382741 68382741 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chrX:68382741G>A c.341C>T c.(340-342)gCc>gTc p.A114V PRAD 23 68381892 68381892 + Missense_Mutation SNP G G A TCGA-KK-A59V-01A-11D-A29Q-08 TCGA-KK-A59V-11A-11D-A29Q-08 g.chrX:68381892G>A c.1190C>T c.(1189-1191)cCg>cTg p.P397L READ 23 68381193 68381193 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:68381193C>T c.1889G>A c.(1888-1890)gGc>gAc p.G630D READ 23 68382762 68382762 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chrX:68382762G>A c.320C>T c.(319-321)tCg>tTg p.S107L SKCM 23 68381536 68381536 + Missense_Mutation SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chrX:68381536C>T c.1546G>A c.(1546-1548)Gga>Aga p.G516R SKCM 23 68381749 68381749 + Nonsense_Mutation SNP G G A TCGA-DA-A1I5-06A-11D-A197-08 TCGA-DA-A1I5-10A-01D-A199-08 g.chrX:68381749G>A c.1333C>T c.(1333-1335)Cga>Tga p.R445* SKCM 23 68382130 68382130 + Missense_Mutation SNP C C T TCGA-EE-A2GO-06A-11D-A196-08 TCGA-EE-A2GO-10A-01D-A198-08 g.chrX:68382130C>T c.952G>A c.(952-954)Gag>Aag p.E318K SKCM 23 68382407 68382407 + Silent SNP C C T TCGA-EE-A20C-06A-11D-A196-08 TCGA-EE-A20C-10A-01D-A198-08 g.chrX:68382407C>T c.675G>A c.(673-675)agG>agA p.R225R SKCM 23 68382856 68382856 + Missense_Mutation SNP G G A TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chrX:68382856G>A c.226C>T c.(226-228)Cgt>Tgt p.R76C

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 X 68381656 68381656 single base substitution C T downstream_gene_variant BLCA-US X 68381656 68381656 single base substitution C T intron_variant BLCA-US X 68381656 68381656 single base substitution C T missense_variant D288N 862G>A BLCA-US X 68381656 68381656 single base substitution C T missense_variant D421N 1261G>A BLCA-US X 68381656 68381656 single base substitution C T missense_variant D476N 1426G>A BLCA-US X 68382762 68382762 single base substitution G A exon_variant BLCA-US X 68382762 68382762 single base substitution G A intron_variant BLCA-US X 68382762 68382762 single base substitution G A missense_variant S107L 320C>T BLCA-US X 68382762 68382762 single base substitution G A missense_variant S52L 155C>T BLCA-US X 68382762 68382762 single base substitution G A upstream_gene_variant BRCA-EU X 68376168 68376168 single base substitution C G downstream_gene_variant BRCA-EU X 68378255 68378255 single base substitution G T downstream_gene_variant BRCA-EU X 68378585 68378585 single base substitution C T downstream_gene_variant BRCA-EU X 68378813 68378813 single base substitution G T downstream_gene_variant BRCA-EU X 68379913 68379913 insertion of <=200bp - A downstream_gene_variant BRCA-EU X 68380091 68380091 deletion of <=200bp A - downstream_gene_variant BRCA-EU X 68380551 68380551 single base substitution G C downstream_gene_variant BRCA-EU X 68380709 68380709 single base substitution C T 3_prime_UTR_variant BRCA-EU X 68380709 68380709 single base substitution C T downstream_gene_variant BRCA-EU X 68382265 68382265 single base substitution T A downstream_gene_variant BRCA-EU X 68382265 68382265 single base substitution T A exon_variant BRCA-EU X 68382265 68382265 single base substitution T A intron_variant BRCA-EU X 68382265 68382265 single base substitution T A missense_variant I218F 652A>T BRCA-EU X 68382265 68382265 single base substitution T A missense_variant I273F 817A>T BRCA-EU X 68382468 68382468 single base substitution G T downstream_gene_variant BRCA-EU X 68382468 68382468 single base substitution G T exon_variant BRCA-EU X 68382468 68382468 single base substitution G T intron_variant BRCA-EU X 68382468 68382468 single base substitution G T stop_gained S150* 449C>A BRCA-EU X 68382468 68382468 single base substitution G T stop_gained S205* 614C>A BRCA-EU X 68382468 68382468 single base substitution G T stop_gained S23* 68C>A BRCA-EU X 68383475 68383475 deletion of <=200bp T - intron_variant BRCA-EU X 68383475 68383475 deletion of <=200bp T - upstream_gene_variant BRCA-EU X 68384141 68384141 single base substitution A C intron_variant BRCA-EU X 68384141 68384141 single base substitution A C upstream_gene_variant BRCA-EU X 68385146 68385146 single base substitution C G intron_variant BRCA-EU X 68385146 68385146 single base substitution C G upstream_gene_variant BRCA-EU X 68385452 68385452 single base substitution C A 5_prime_UTR_variant BRCA-EU X 68385452 68385452 single base substitution C A upstream_gene_variant BRCA-EU X 68385473 68385473 single base substitution G A 5_prime_UTR_variant BRCA-EU X 68385473 68385473 single base substitution G A upstream_gene_variant BRCA-EU X 68385856 68385858 deletion of <=200bp GTA - upstream_gene_variant BRCA-EU X 68386449 68386449 single base substitution T A upstream_gene_variant BRCA-EU X 68386450 68386450 single base substitution C G upstream_gene_variant BRCA-EU X 68387155 68387155 single base substitution C T upstream_gene_variant BRCA-EU X 68387818 68387818 single base substitution G T upstream_gene_variant BRCA-EU X 68390108 68390108 single base substitution C T upstream_gene_variant BRCA-EU X 68390176 68390176 single base substitution C T upstream_gene_variant BRCA-FR X 68385525 68385525 single base substitution G A 5_prime_UTR_variant BRCA-FR X 68385525 68385525 single base substitution G A upstream_gene_variant BRCA-UK X 68378255 68378255 single base substitution G T downstream_gene_variant BRCA-UK X 68380551 68380551 single base substitution G C downstream_gene_variant BRCA-UK X 68388022 68388022 single base substitution C T upstream_gene_variant BRCA-US X 68381070 68381070 single base substitution T C 3_prime_UTR_variant BRCA-US X 68381070 68381070 single base substitution T C downstream_gene_variant BRCA-US X 68381070 68381070 single base substitution T C missense_variant T56A 166A>G BRCA-US X 68381071 68381071 single base substitution T C 3_prime_UTR_variant BRCA-US X 68381071 68381071 single base substitution T C downstream_gene_variant BRCA-US X 68381071 68381071 single base substitution T C synonymous_variant L55L 165A>G BRCA-US X 68381469 68381469 single base substitution A G downstream_gene_variant BRCA-US X 68381469 68381469 single base substitution A G intron_variant BRCA-US X 68381469 68381469 single base substitution A G missense_variant M350T 1049T>C BRCA-US X 68381469 68381469 single base substitution A G missense_variant M483T 1448T>C BRCA-US X 68381469 68381469 single base substitution A G missense_variant M538T 1613T>C BRCA-US X 68381728 68381728 single base substitution C G downstream_gene_variant BRCA-US X 68381728 68381728 single base substitution C G intron_variant BRCA-US X 68381728 68381728 single base substitution C G missense_variant E264Q 790G>C BRCA-US X 68381728 68381728 single base substitution C G missense_variant E397Q 1189G>C BRCA-US X 68381728 68381728 single base substitution C G missense_variant E452Q 1354G>C BRCA-US X 68381749 68381749 single base substitution G A downstream_gene_variant BRCA-US X 68381749 68381749 single base substitution G A intron_variant BRCA-US X 68381749 68381749 single base substitution G A stop_gained R257* 769C>T BRCA-US X 68381749 68381749 single base substitution G A stop_gained R390* 1168C>T BRCA-US X 68381749 68381749 single base substitution G A stop_gained R445* 1333C>T BRCA-US X 68382056 68382056 single base substitution T C downstream_gene_variant BRCA-US X 68382056 68382056 single base substitution T C intron_variant BRCA-US X 68382056 68382056 single base substitution T C synonymous_variant R154R 462A>G BRCA-US X 68382056 68382056 single base substitution T C synonymous_variant R287R 861A>G BRCA-US X 68382056 68382056 single base substitution T C synonymous_variant R342R 1026A>G BRCA-US X 68382137 68382137 single base substitution G C downstream_gene_variant BRCA-US X 68382137 68382137 single base substitution G C intron_variant BRCA-US X 68382137 68382137 single base substitution G C synonymous_variant G127G 381C>G BRCA-US X 68382137 68382137 single base substitution G C synonymous_variant G260G 780C>G BRCA-US X 68382137 68382137 single base substitution G C synonymous_variant G315G 945C>G BRCA-US X 68382257 68382257 deletion of <=200bp A - downstream_gene_variant BRCA-US X 68382257 68382257 deletion of <=200bp A - exon_variant BRCA-US X 68382257 68382257 deletion of <=200bp A - frameshift_variant F220 BRCA-US X 68382257 68382257 deletion of <=200bp A - frameshift_variant F275 BRCA-US X 68382257 68382257 deletion of <=200bp A - intron_variant BRCA-US X 68382501 68382501 single base substitution C T downstream_gene_variant BRCA-US X 68382501 68382501 single base substitution C T exon_variant BRCA-US X 68382501 68382501 single base substitution C T intron_variant BRCA-US X 68382501 68382501 single base substitution C T missense_variant R12K 35G>A BRCA-US X 68382501 68382501 single base substitution C T missense_variant R139K 416G>A BRCA-US X 68382501 68382501 single base substitution C T missense_variant R194K 581G>A BRCA-US X 68382547 68382547 single base substitution G A downstream_gene_variant BRCA-US X 68382547 68382547 single base substitution G A exon_variant BRCA-US X 68382547 68382547 single base substitution G A intron_variant BRCA-US X 68382547 68382547 single base substitution G A stop_gained R124* 370C>T BRCA-US X 68382547 68382547 single base substitution G A stop_gained R179* 535C>T BRCA-US X 68382547 68382547 single base substitution G A upstream_gene_variant BRCA-US X 68382676 68382676 single base substitution G A exon_variant BRCA-US X 68382676 68382676 single base substitution G A intron_variant BRCA-US X 68382676 68382676 single base substitution G A stop_gained R136* 406C>T BRCA-US X 68382676 68382676 single base substitution G A stop_gained R81* 241C>T BRCA-US X 68382676 68382676 single base substitution G A upstream_gene_variant BRCA-US X 68382697 68382697 single base substitution C T exon_variant BRCA-US X 68382697 68382697 single base substitution C T intron_variant BRCA-US X 68382697 68382697 single base substitution C T missense_variant E129K 385G>A BRCA-US X 68382697 68382697 single base substitution C T missense_variant E74K 220G>A BRCA-US X 68382697 68382697 single base substitution C T upstream_gene_variant BRCA-US X 68382750 68382750 single base substitution C G exon_variant BRCA-US X 68382750 68382750 single base substitution C G intron_variant BRCA-US X 68382750 68382750 single base substitution C G missense_variant R111T 332G>C BRCA-US X 68382750 68382750 single base substitution C G missense_variant R56T 167G>C BRCA-US X 68382750 68382750 single base substitution C G upstream_gene_variant BRCA-US X 68382802 68382802 single base substitution C T exon_variant BRCA-US X 68382802 68382802 single base substitution C T missense_variant E39K 115G>A BRCA-US X 68382802 68382802 single base substitution C T missense_variant E94K 280G>A BRCA-US X 68382802 68382802 single base substitution C T upstream_gene_variant BRCA-US X 68382828 68382828 single base substitution G A exon_variant BRCA-US X 68382828 68382828 single base substitution G A missense_variant S30L 89C>T BRCA-US X 68382828 68382828 single base substitution G A missense_variant S85L 254C>T BRCA-US X 68382828 68382828 single base substitution G A upstream_gene_variant BRCA-US X 68383057 68383057 single base substitution C A intron_variant BRCA-US X 68383057 68383057 single base substitution C A missense_variant V9L 25G>T BRCA-US X 68383057 68383057 single base substitution C A upstream_gene_variant BTCA-JP X 68382257 68382257 deletion of <=200bp A - downstream_gene_variant BTCA-JP X 68382257 68382257 deletion of <=200bp A - exon_variant BTCA-JP X 68382257 68382257 deletion of <=200bp A - frameshift_variant F220 BTCA-JP X 68382257 68382257 deletion of <=200bp A - frameshift_variant F275 BTCA-JP X 68382257 68382257 deletion of <=200bp A - intron_variant CESC-US X 68381222 68381222 single base substitution C T downstream_gene_variant CESC-US X 68381222 68381222 single base substitution C T intron_variant CESC-US X 68381222 68381222 single base substitution C T synonymous_variant P432P 1296G>A CESC-US X 68381222 68381222 single base substitution C T synonymous_variant P565P 1695G>A CESC-US X 68381222 68381222 single base substitution C T synonymous_variant P620P 1860G>A CESC-US X 68382228 68382228 single base substitution T C downstream_gene_variant CESC-US X 68382228 68382228 single base substitution T C exon_variant CESC-US X 68382228 68382228 single base substitution T C intron_variant CESC-US X 68382228 68382228 single base substitution T C missense_variant H230R 689A>G CESC-US X 68382228 68382228 single base substitution T C missense_variant H285R 854A>G CESC-US X 68383010 68383010 single base substitution C T intron_variant CESC-US X 68383010 68383010 single base substitution C T synonymous_variant R24R 72G>A CESC-US X 68383010 68383010 single base substitution C T upstream_gene_variant CLLE-ES X 68383792 68383792 single base substitution T C intron_variant CLLE-ES X 68383792 68383792 single base substitution T C upstream_gene_variant CLLE-ES X 68385386 68385386 single base substitution C G 5_prime_UTR_variant CLLE-ES X 68385386 68385386 single base substitution C G upstream_gene_variant COAD-US X 68382240 68382242 deletion of <=200bp TCA - disruptive_inframe_deletion DD225D COAD-US X 68382240 68382242 deletion of <=200bp TCA - disruptive_inframe_deletion DD280D COAD-US X 68382240 68382242 deletion of <=200bp TCA - downstream_gene_variant COAD-US X 68382240 68382242 deletion of <=200bp TCA - exon_variant COAD-US X 68382240 68382242 deletion of <=200bp TCA - intron_variant COAD-US X 68382315 68382315 single base substitution A T downstream_gene_variant COAD-US X 68382315 68382315 single base substitution A T exon_variant COAD-US X 68382315 68382315 single base substitution A T intron_variant COAD-US X 68382315 68382315 single base substitution A T missense_variant V201D 602T>A COAD-US X 68382315 68382315 single base substitution A T missense_variant V256D 767T>A COAD-US X 68382387 68382387 single base substitution C T downstream_gene_variant COAD-US X 68382387 68382387 single base substitution C T exon_variant COAD-US X 68382387 68382387 single base substitution C T intron_variant COAD-US X 68382387 68382387 single base substitution C T missense_variant R177H 530G>A COAD-US X 68382387 68382387 single base substitution C T missense_variant R232H 695G>A COAD-US X 68382387 68382387 single base substitution C T splice_donor_variant COCA-CN X 68381424 68381424 single base substitution G A downstream_gene_variant COCA-CN X 68381424 68381424 single base substitution G A intron_variant COCA-CN X 68381424 68381424 single base substitution G A missense_variant A365V 1094C>T COCA-CN X 68381424 68381424 single base substitution G A missense_variant A498V 1493C>T COCA-CN X 68381424 68381424 single base substitution G A missense_variant A553V 1658C>T COCA-CN X 68382872 68382872 single base substitution C T exon_variant COCA-CN X 68382872 68382872 single base substitution C T synonymous_variant S15S 45G>A COCA-CN X 68382872 68382872 single base substitution C T synonymous_variant S70S 210G>A COCA-CN X 68382872 68382872 single base substitution C T upstream_gene_variant ESCA-CN X 68381864 68381864 single base substitution C A downstream_gene_variant ESCA-CN X 68381864 68381864 single base substitution C A intron_variant ESCA-CN X 68381864 68381864 single base substitution C A missense_variant Q218H 654G>T ESCA-CN X 68381864 68381864 single base substitution C A missense_variant Q351H 1053G>T ESCA-CN X 68381864 68381864 single base substitution C A missense_variant Q406H 1218G>T ESCA-CN X 68381955 68381955 single base substitution C T downstream_gene_variant ESCA-CN X 68381955 68381955 single base substitution C T intron_variant ESCA-CN X 68381955 68381955 single base substitution C T missense_variant R188H 563G>A ESCA-CN X 68381955 68381955 single base substitution C T missense_variant R321H 962G>A ESCA-CN X 68381955 68381955 single base substitution C T missense_variant R376H 1127G>A KIRC-US X 68382325 68382325 single base substitution C G downstream_gene_variant KIRC-US X 68382325 68382325 single base substitution C G exon_variant KIRC-US X 68382325 68382325 single base substitution C G intron_variant KIRC-US X 68382325 68382325 single base substitution C G missense_variant E198Q 592G>C KIRC-US X 68382325 68382325 single base substitution C G missense_variant E253Q 757G>C KIRP-US X 68382203 68382203 single base substitution G A downstream_gene_variant KIRP-US X 68382203 68382203 single base substitution G A exon_variant KIRP-US X 68382203 68382203 single base substitution G A intron_variant KIRP-US X 68382203 68382203 single base substitution G A synonymous_variant T105T 315C>T KIRP-US X 68382203 68382203 single base substitution G A synonymous_variant T238T 714C>T KIRP-US X 68382203 68382203 single base substitution G A synonymous_variant T293T 879C>T LICA-CN X 68381571 68381571 single base substitution C A downstream_gene_variant LICA-CN X 68381571 68381571 single base substitution C A intron_variant LICA-CN X 68381571 68381571 single base substitution C A missense_variant S316I 947G>T LICA-CN X 68381571 68381571 single base substitution C A missense_variant S449I 1346G>T LICA-CN X 68381571 68381571 single base substitution C A missense_variant S504I 1511G>T LICA-FR X 68379462 68379462 single base substitution A C downstream_gene_variant LICA-FR X 68381805 68381805 single base substitution C T downstream_gene_variant LICA-FR X 68381805 68381805 single base substitution C T intron_variant LICA-FR X 68381805 68381805 single base substitution C T missense_variant G238E 713G>A LICA-FR X 68381805 68381805 single base substitution C T missense_variant G371E 1112G>A LICA-FR X 68381805 68381805 single base substitution C T missense_variant G426E 1277G>A LICA-FR X 68382054 68382054 single base substitution C A downstream_gene_variant LICA-FR X 68382054 68382054 single base substitution C A intron_variant LICA-FR X 68382054 68382054 single base substitution C A missense_variant R155L 464G>T LICA-FR X 68382054 68382054 single base substitution C A missense_variant R288L 863G>T LICA-FR X 68382054 68382054 single base substitution C A missense_variant R343L 1028G>T LICA-FR X 68387197 68387198 deletion of <=200bp AA - upstream_gene_variant LIHC-US X 68382256 68382256 insertion of <=200bp - A downstream_gene_variant LIHC-US X 68382256 68382256 insertion of <=200bp - A exon_variant LIHC-US X 68382256 68382256 insertion of <=200bp - A frameshift_variant D221V? LIHC-US X 68382256 68382256 insertion of <=200bp - A frameshift_variant D276V? LIHC-US X 68382256 68382256 insertion of <=200bp - A intron_variant LINC-JP X 68377120 68377120 deletion of <=200bp T - downstream_gene_variant LINC-JP X 68388115 68388115 single base substitution A G upstream_gene_variant LIRI-JP X 68375981 68375981 single base substitution T C downstream_gene_variant LIRI-JP X 68381806 68381806 single base substitution C T downstream_gene_variant LIRI-JP X 68381806 68381806 single base substitution C T intron_variant LIRI-JP X 68381806 68381806 single base substitution C T missense_variant G238R 712G>A LIRI-JP X 68381806 68381806 single base substitution C T missense_variant G371R 1111G>A LIRI-JP X 68381806 68381806 single base substitution C T missense_variant G426R 1276G>A LIRI-JP X 68382692 68382692 single base substitution C A exon_variant LIRI-JP X 68382692 68382692 single base substitution C A intron_variant LIRI-JP X 68382692 68382692 single base substitution C A synonymous_variant G130G 390G>T LIRI-JP X 68382692 68382692 single base substitution C A synonymous_variant G75G 225G>T LIRI-JP X 68382692 68382692 single base substitution C A upstream_gene_variant LIRI-JP X 68386217 68386217 single base substitution T G upstream_gene_variant LIRI-JP X 68387222 68387222 single base substitution A G upstream_gene_variant LIRI-JP X 68389788 68389788 single base substitution A G upstream_gene_variant LIRI-JP X 68390388 68390388 single base substitution T C upstream_gene_variant LUSC-KR X 68381551 68381551 single base substitution A C downstream_gene_variant LUSC-KR X 68381551 68381551 single base substitution A C intron_variant LUSC-KR X 68381551 68381551 single base substitution A C missense_variant W323G 967T>G LUSC-KR X 68381551 68381551 single base substitution A C missense_variant W456G 1366T>G LUSC-KR X 68381551 68381551 single base substitution A C missense_variant W511G 1531T>G LUSC-KR X 68389305 68389305 single base substitution C A upstream_gene_variant LUSC-KR X 68389306 68389306 single base substitution A T upstream_gene_variant LUSC-US X 68381405 68381405 single base substitution T C downstream_gene_variant LUSC-US X 68381405 68381405 single base substitution T C intron_variant LUSC-US X 68381405 68381405 single base substitution T C synonymous_variant A371A 1113A>G LUSC-US X 68381405 68381405 single base substitution T C synonymous_variant A504A 1512A>G LUSC-US X 68381405 68381405 single base substitution T C synonymous_variant A559A 1677A>G LUSC-US X 68382648 68382648 single base substitution T A exon_variant LUSC-US X 68382648 68382648 single base substitution T A intron_variant LUSC-US X 68382648 68382648 single base substitution T A missense_variant K145M 434A>T LUSC-US X 68382648 68382648 single base substitution T A missense_variant K90M 269A>T LUSC-US X 68382648 68382648 single base substitution T A synonymous_variant ?145 LUSC-US X 68382648 68382648 single base substitution T A upstream_gene_variant LUSC-US X 68383037 68383037 single base substitution T A intron_variant LUSC-US X 68383037 68383037 single base substitution T A synonymous_variant G15G 45A>T LUSC-US X 68383037 68383037 single base substitution T A upstream_gene_variant MALY-DE X 68377068 68377068 single base substitution G A downstream_gene_variant MALY-DE X 68377129 68377129 single base substitution T G downstream_gene_variant MALY-DE X 68377464 68377464 single base substitution G T downstream_gene_variant MALY-DE X 68382546 68382546 single base substitution C G downstream_gene_variant MALY-DE X 68382546 68382546 single base substitution C G exon_variant MALY-DE X 68382546 68382546 single base substitution C G intron_variant MALY-DE X 68382546 68382546 single base substitution C G missense_variant R124P 371G>C MALY-DE X 68382546 68382546 single base substitution C G missense_variant R179P 536G>C MALY-DE X 68382546 68382546 single base substitution C G upstream_gene_variant MALY-DE X 68386923 68386923 single base substitution C T upstream_gene_variant MELA-AU X 68376134 68376134 single base substitution G A downstream_gene_variant MELA-AU X 68376351 68376351 single base substitution G A downstream_gene_variant MELA-AU X 68377298 68377298 single base substitution C T downstream_gene_variant MELA-AU X 68377596 68377597 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU X 68380785 68380785 single base substitution A C 3_prime_UTR_variant MELA-AU X 68380785 68380785 single base substitution A C downstream_gene_variant MELA-AU X 68382348 68382348 single base substitution T C downstream_gene_variant MELA-AU X 68382348 68382348 single base substitution T C exon_variant MELA-AU X 68382348 68382348 single base substitution T C intron_variant MELA-AU X 68382348 68382348 single base substitution T C missense_variant E190G 569A>G MELA-AU X 68382348 68382348 single base substitution T C missense_variant E245G 734A>G MELA-AU X 68383358 68383358 single base substitution C T 5_prime_UTR_variant MELA-AU X 68383358 68383358 single base substitution C T intron_variant MELA-AU X 68383358 68383358 single base substitution C T upstream_gene_variant MELA-AU X 68384276 68384276 single base substitution T C intron_variant MELA-AU X 68384276 68384276 single base substitution T C upstream_gene_variant MELA-AU X 68384316 68384316 single base substitution G A intron_variant MELA-AU X 68384316 68384316 single base substitution G A upstream_gene_variant MELA-AU X 68384587 68384587 single base substitution G T intron_variant MELA-AU X 68384587 68384587 single base substitution G T upstream_gene_variant MELA-AU X 68384589 68384589 single base substitution G T intron_variant MELA-AU X 68384589 68384589 single base substitution G T upstream_gene_variant MELA-AU X 68385390 68385390 single base substitution G A 5_prime_UTR_variant MELA-AU X 68385390 68385390 single base substitution G A upstream_gene_variant MELA-AU X 68385872 68385872 single base substitution G A upstream_gene_variant MELA-AU X 68386362 68386362 single base substitution G A upstream_gene_variant MELA-AU X 68386596 68386596 single base substitution G A upstream_gene_variant MELA-AU X 68386636 68386636 single base substitution G A upstream_gene_variant MELA-AU X 68387053 68387053 single base substitution C T upstream_gene_variant MELA-AU X 68387430 68387430 single base substitution G A upstream_gene_variant MELA-AU X 68387474 68387474 single base substitution T A upstream_gene_variant MELA-AU X 68387787 68387787 single base substitution C T upstream_gene_variant MELA-AU X 68388155 68388155 single base substitution A G upstream_gene_variant MELA-AU X 68388290 68388290 single base substitution A C upstream_gene_variant MELA-AU X 68388574 68388574 single base substitution G A upstream_gene_variant MELA-AU X 68388649 68388649 single base substitution G A upstream_gene_variant MELA-AU X 68389712 68389712 single base substitution C T upstream_gene_variant MELA-AU X 68390633 68390633 single base substitution G A upstream_gene_variant ORCA-IN X 68376510 68376510 single base substitution G A downstream_gene_variant ORCA-IN X 68379045 68379045 single base substitution C T downstream_gene_variant ORCA-IN X 68382250 68382250 single base substitution C A downstream_gene_variant ORCA-IN X 68382250 68382250 single base substitution C A exon_variant ORCA-IN X 68382250 68382250 single base substitution C A intron_variant ORCA-IN X 68382250 68382250 single base substitution C A missense_variant D223Y 667G>T ORCA-IN X 68382250 68382250 single base substitution C A missense_variant D278Y 832G>T OV-AU X 68377053 68377053 single base substitution G A downstream_gene_variant OV-AU X 68378768 68378768 single base substitution A C downstream_gene_variant OV-AU X 68381249 68381249 single base substitution C A downstream_gene_variant OV-AU X 68381249 68381249 single base substitution C A intron_variant OV-AU X 68381249 68381249 single base substitution C A synonymous_variant L423L 1269G>T OV-AU X 68381249 68381249 single base substitution C A synonymous_variant L556L 1668G>T OV-AU X 68381249 68381249 single base substitution C A synonymous_variant L611L 1833G>T PACA-AU X 68379500 68379500 single base substitution C A downstream_gene_variant PACA-AU X 68380447 68380447 single base substitution C G downstream_gene_variant PACA-CA X 68376332 68376332 single base substitution G A downstream_gene_variant PACA-CA X 68377129 68377129 single base substitution T G downstream_gene_variant PACA-CA X 68386206 68386206 single base substitution A G upstream_gene_variant PBCA-DE X 68380151 68380154 deletion of <=200bp AGAC - downstream_gene_variant PRAD-CA X 68377129 68377129 single base substitution T G downstream_gene_variant PRAD-CA X 68381960 68381960 single base substitution A G downstream_gene_variant PRAD-CA X 68381960 68381960 single base substitution A G intron_variant PRAD-CA X 68381960 68381960 single base substitution A G synonymous_variant A186A 558T>C PRAD-CA X 68381960 68381960 single base substitution A G synonymous_variant A319A 957T>C PRAD-CA X 68381960 68381960 single base substitution A G synonymous_variant A374A 1122T>C PRAD-UK X 68380581 68380582 deletion of <=200bp TG - downstream_gene_variant PRAD-US X 68381892 68381892 single base substitution G A downstream_gene_variant PRAD-US X 68381892 68381892 single base substitution G A intron_variant PRAD-US X 68381892 68381892 single base substitution G A missense_variant P209L 626C>T PRAD-US X 68381892 68381892 single base substitution G A missense_variant P342L 1025C>T PRAD-US X 68381892 68381892 single base substitution G A missense_variant P397L 1190C>T RECA-EU X 68379149 68379149 single base substitution T A downstream_gene_variant RECA-EU X 68389021 68389021 single base substitution A T upstream_gene_variant SKCA-BR X 68378640 68378640 single base substitution G A downstream_gene_variant SKCA-BR X 68382696 68382696 single base substitution T C exon_variant SKCA-BR X 68382696 68382696 single base substitution T C intron_variant SKCA-BR X 68382696 68382696 single base substitution T C missense_variant E129G 386A>G SKCA-BR X 68382696 68382696 single base substitution T C missense_variant E74G 221A>G SKCA-BR X 68382696 68382696 single base substitution T C upstream_gene_variant SKCA-BR X 68384227 68384227 single base substitution A G intron_variant SKCA-BR X 68384227 68384227 single base substitution A G upstream_gene_variant SKCA-BR X 68385492 68385492 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR X 68385492 68385492 single base substitution G A upstream_gene_variant SKCA-BR X 68387196 68387197 deletion of <=200bp CA - upstream_gene_variant SKCM-US X 68381536 68381536 single base substitution C T downstream_gene_variant SKCM-US X 68381536 68381536 single base substitution C T intron_variant SKCM-US X 68381536 68381536 single base substitution C T missense_variant G328R 982G>A SKCM-US X 68381536 68381536 single base substitution C T missense_variant G461R 1381G>A SKCM-US X 68381536 68381536 single base substitution C T missense_variant G516R 1546G>A SKCM-US X 68381749 68381749 single base substitution G A downstream_gene_variant SKCM-US X 68381749 68381749 single base substitution G A intron_variant SKCM-US X 68381749 68381749 single base substitution G A stop_gained R257* 769C>T SKCM-US X 68381749 68381749 single base substitution G A stop_gained R390* 1168C>T SKCM-US X 68381749 68381749 single base substitution G A stop_gained R445* 1333C>T SKCM-US X 68382057 68382057 single base substitution C T downstream_gene_variant SKCM-US X 68382057 68382057 single base substitution C T intron_variant SKCM-US X 68382057 68382057 single base substitution C T missense_variant R154Q 461G>A SKCM-US X 68382057 68382057 single base substitution C T missense_variant R287Q 860G>A SKCM-US X 68382057 68382057 single base substitution C T missense_variant R342Q 1025G>A SKCM-US X 68382130 68382130 single base substitution C T downstream_gene_variant SKCM-US X 68382130 68382130 single base substitution C T intron_variant SKCM-US X 68382130 68382130 single base substitution C T missense_variant E130K 388G>A SKCM-US X 68382130 68382130 single base substitution C T missense_variant E263K 787G>A SKCM-US X 68382130 68382130 single base substitution C T missense_variant E318K 952G>A SKCM-US X 68382407 68382407 single base substitution C T downstream_gene_variant SKCM-US X 68382407 68382407 single base substitution C T exon_variant SKCM-US X 68382407 68382407 single base substitution C T intron_variant SKCM-US X 68382407 68382407 single base substitution C T synonymous_variant R170R 510G>A SKCM-US X 68382407 68382407 single base substitution C T synonymous_variant R225R 675G>A SKCM-US X 68382407 68382407 single base substitution C T synonymous_variant R43R 129G>A SKCM-US X 68382856 68382856 single base substitution G A exon_variant SKCM-US X 68382856 68382856 single base substitution G A missense_variant R21C 61C>T SKCM-US X 68382856 68382856 single base substitution G A missense_variant R76C 226C>T SKCM-US X 68382856 68382856 single base substitution G A upstream_gene_variant STAD-US X 68381278 68381278 single base substitution A G downstream_gene_variant STAD-US X 68381278 68381278 single base substitution A G intron_variant STAD-US X 68381278 68381278 single base substitution A G missense_variant Y414H 1240T>C STAD-US X 68381278 68381278 single base substitution A G missense_variant Y547H 1639T>C STAD-US X 68381278 68381278 single base substitution A G missense_variant Y602H 1804T>C STAD-US X 68381384 68381384 single base substitution A T downstream_gene_variant STAD-US X 68381384 68381384 single base substitution A T intron_variant STAD-US X 68381384 68381384 single base substitution A T missense_variant N378K 1134T>A STAD-US X 68381384 68381384 single base substitution A T missense_variant N511K 1533T>A STAD-US X 68381384 68381384 single base substitution A T missense_variant N566K 1698T>A STAD-US X 68381908 68381908 single base substitution T C downstream_gene_variant STAD-US X 68381908 68381908 single base substitution T C intron_variant STAD-US X 68381908 68381908 single base substitution T C missense_variant S204G 610A>G STAD-US X 68381908 68381908 single base substitution T C missense_variant S337G 1009A>G STAD-US X 68381908 68381908 single base substitution T C missense_variant S392G 1174A>G STAD-US X 68381999 68381999 single base substitution G T downstream_gene_variant STAD-US X 68381999 68381999 single base substitution G T intron_variant STAD-US X 68381999 68381999 single base substitution G T stop_gained C173* 519C>A STAD-US X 68381999 68381999 single base substitution G T stop_gained C306* 918C>A STAD-US X 68381999 68381999 single base substitution G T stop_gained C361* 1083C>A STAD-US X 68382056 68382056 single base substitution T C downstream_gene_variant STAD-US X 68382056 68382056 single base substitution T C intron_variant STAD-US X 68382056 68382056 single base substitution T C synonymous_variant R154R 462A>G STAD-US X 68382056 68382056 single base substitution T C synonymous_variant R287R 861A>G STAD-US X 68382056 68382056 single base substitution T C synonymous_variant R342R 1026A>G STAD-US X 68382185 68382185 single base substitution G A downstream_gene_variant STAD-US X 68382185 68382185 single base substitution G A exon_variant STAD-US X 68382185 68382185 single base substitution G A intron_variant STAD-US X 68382185 68382185 single base substitution G A synonymous_variant G111G 333C>T STAD-US X 68382185 68382185 single base substitution G A synonymous_variant G244G 732C>T STAD-US X 68382185 68382185 single base substitution G A synonymous_variant G299G 897C>T STAD-US X 68382235 68382235 single base substitution T C downstream_gene_variant STAD-US X 68382235 68382235 single base substitution T C exon_variant STAD-US X 68382235 68382235 single base substitution T C intron_variant STAD-US X 68382235 68382235 single base substitution T C missense_variant M228V 682A>G STAD-US X 68382235 68382235 single base substitution T C missense_variant M283V 847A>G STAD-US X 68382257 68382257 deletion of <=200bp A - downstream_gene_variant STAD-US X 68382257 68382257 deletion of <=200bp A - exon_variant STAD-US X 68382257 68382257 deletion of <=200bp A - frameshift_variant F220 STAD-US X 68382257 68382257 deletion of <=200bp A - frameshift_variant F275 STAD-US X 68382257 68382257 deletion of <=200bp A - intron_variant STAD-US X 68382265 68382265 deletion of <=200bp T - downstream_gene_variant STAD-US X 68382265 68382265 deletion of <=200bp T - exon_variant STAD-US X 68382265 68382265 deletion of <=200bp T - frameshift_variant I218 STAD-US X 68382265 68382265 deletion of <=200bp T - frameshift_variant I273 STAD-US X 68382265 68382265 deletion of <=200bp T - intron_variant STAD-US X 68382735 68382735 single base substitution C A exon_variant STAD-US X 68382735 68382735 single base substitution C A intron_variant STAD-US X 68382735 68382735 single base substitution C A missense_variant G116V 347G>T STAD-US X 68382735 68382735 single base substitution C A missense_variant G61V 182G>T STAD-US X 68382735 68382735 single base substitution C A upstream_gene_variant STAD-US X 68382960 68382960 single base substitution C T 5_prime_UTR_variant STAD-US X 68382960 68382960 single base substitution C T exon_variant STAD-US X 68382960 68382960 single base substitution C T missense_variant R41Q 122G>A STAD-US X 68382960 68382960 single base substitution C T upstream_gene_variant UCEC-US X 68381244 68381244 single base substitution C T downstream_gene_variant UCEC-US X 68381244 68381244 single base substitution C T intron_variant UCEC-US X 68381244 68381244 single base substitution C T missense_variant C425Y 1274G>A UCEC-US X 68381244 68381244 single base substitution C T missense_variant C558Y 1673G>A UCEC-US X 68381244 68381244 single base substitution C T missense_variant C613Y 1838G>A UCEC-US X 68381347 68381347 single base substitution C T downstream_gene_variant UCEC-US X 68381347 68381347 single base substitution C T intron_variant UCEC-US X 68381347 68381347 single base substitution C T missense_variant E391K 1171G>A UCEC-US X 68381347 68381347 single base substitution C T missense_variant E524K 1570G>A UCEC-US X 68381347 68381347 single base substitution C T missense_variant E579K 1735G>A UCEC-US X 68381424 68381424 single base substitution G A downstream_gene_variant UCEC-US X 68381424 68381424 single base substitution G A intron_variant UCEC-US X 68381424 68381424 single base substitution G A missense_variant A365V 1094C>T UCEC-US X 68381424 68381424 single base substitution G A missense_variant A498V 1493C>T UCEC-US X 68381424 68381424 single base substitution G A missense_variant A553V 1658C>T UCEC-US X 68381693 68381693 single base substitution C A downstream_gene_variant UCEC-US X 68381693 68381693 single base substitution C A intron_variant UCEC-US X 68381693 68381693 single base substitution C A missense_variant W275C 825G>T UCEC-US X 68381693 68381693 single base substitution C A missense_variant W408C 1224G>T UCEC-US X 68381693 68381693 single base substitution C A missense_variant W463C 1389G>T UCEC-US X 68381995 68381995 single base substitution C T downstream_gene_variant UCEC-US X 68381995 68381995 single base substitution C T intron_variant UCEC-US X 68381995 68381995 single base substitution C T missense_variant E175K 523G>A UCEC-US X 68381995 68381995 single base substitution C T missense_variant E308K 922G>A UCEC-US X 68381995 68381995 single base substitution C T missense_variant E363K 1087G>A UCEC-US X 68381999 68381999 single base substitution G A downstream_gene_variant UCEC-US X 68381999 68381999 single base substitution G A intron_variant UCEC-US X 68381999 68381999 single base substitution G A synonymous_variant C173C 519C>T UCEC-US X 68381999 68381999 single base substitution G A synonymous_variant C306C 918C>T UCEC-US X 68381999 68381999 single base substitution G A synonymous_variant C361C 1083C>T UCEC-US X 68382065 68382065 single base substitution C T downstream_gene_variant UCEC-US X 68382065 68382065 single base substitution C T intron_variant UCEC-US X 68382065 68382065 single base substitution C T synonymous_variant P151P 453G>A UCEC-US X 68382065 68382065 single base substitution C T synonymous_variant P284P 852G>A UCEC-US X 68382065 68382065 single base substitution C T synonymous_variant P339P 1017G>A UCEC-US X 68382137 68382137 single base substitution G A downstream_gene_variant UCEC-US X 68382137 68382137 single base substitution G A intron_variant UCEC-US X 68382137 68382137 single base substitution G A synonymous_variant G127G 381C>T UCEC-US X 68382137 68382137 single base substitution G A synonymous_variant G260G 780C>T UCEC-US X 68382137 68382137 single base substitution G A synonymous_variant G315G 945C>T UCEC-US X 68382140 68382140 single base substitution A G downstream_gene_variant UCEC-US X 68382140 68382140 single base substitution A G intron_variant UCEC-US X 68382140 68382140 single base substitution A G synonymous_variant S126S 378T>C UCEC-US X 68382140 68382140 single base substitution A G synonymous_variant S259S 777T>C UCEC-US X 68382140 68382140 single base substitution A G synonymous_variant S314S 942T>C UCEC-US X 68382239 68382239 single base substitution G A downstream_gene_variant UCEC-US X 68382239 68382239 single base substitution G A exon_variant UCEC-US X 68382239 68382239 single base substitution G A intron_variant UCEC-US X 68382239 68382239 single base substitution G A synonymous_variant D226D 678C>T UCEC-US X 68382239 68382239 single base substitution G A synonymous_variant D281D 843C>T UCEC-US X 68382283 68382283 single base substitution T G downstream_gene_variant UCEC-US X 68382283 68382283 single base substitution T G exon_variant UCEC-US X 68382283 68382283 single base substitution T G intron_variant UCEC-US X 68382283 68382283 single base substitution T G missense_variant N212H 634A>C UCEC-US X 68382283 68382283 single base substitution T G missense_variant N267H 799A>C UCEC-US X 68382310 68382310 single base substitution G C downstream_gene_variant UCEC-US X 68382310 68382310 single base substitution G C exon_variant UCEC-US X 68382310 68382310 single base substitution G C intron_variant UCEC-US X 68382310 68382310 single base substitution G C missense_variant P203A 607C>G UCEC-US X 68382310 68382310 single base substitution G C missense_variant P258A 772C>G UCEC-US X 68382671 68382671 single base substitution C T exon_variant UCEC-US X 68382671 68382671 single base substitution C T intron_variant UCEC-US X 68382671 68382671 single base substitution C T synonymous_variant P137P 411G>A UCEC-US X 68382671 68382671 single base substitution C T synonymous_variant P82P 246G>A UCEC-US X 68382671 68382671 single base substitution C T upstream_gene_variant UCEC-US X 68382672 68382672 single base substitution G A exon_variant UCEC-US X 68382672 68382672 single base substitution G A intron_variant UCEC-US X 68382672 68382672 single base substitution G A missense_variant P137L 410C>T UCEC-US X 68382672 68382672 single base substitution G A missense_variant P82L 245C>T UCEC-US X 68382672 68382672 single base substitution G A upstream_gene_variant UCEC-US X 68382828 68382828 single base substitution G A exon_variant UCEC-US X 68382828 68382828 single base substitution G A missense_variant S30L 89C>T UCEC-US X 68382828 68382828 single base substitution G A missense_variant S85L 254C>T UCEC-US X 68382828 68382828 single base substitution G A upstream_gene_variant UCEC-US X 68382877 68382877 single base substitution G A exon_variant UCEC-US X 68382877 68382877 single base substitution G A stop_gained R14* 40C>T UCEC-US X 68382877 68382877 single base substitution G A stop_gained R69* 205C>T UCEC-US X 68382877 68382877 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EA-A4BA-01 COSM4848087 c.294-4A>G p.? Unknown 23:69162385-69162385 - ESCC-162T COSM613580 c.563G>A p.R188H Substitution - Missense 23:69162112-69162112 - CHC892T COSM4797797 c.713G>A p.G238E Substitution - Missense 23:69161962-69161962 - HCC2998 COSM3094700 c.575G>A p.R192Q Substitution - Missense 23:69162100-69162100 - PDA_004 COSM4997923 c.731G>A p.S244N Substitution - Missense 23:69161944-69161944 - ESCC_BICR_060T COSM5435215 c.654G>T p.Q218H Substitution - Missense 23:69162021-69162021 - TCGA-DA-A1I5-06 COSM3845224 c.769C>T p.R257* Substitution - Nonsense 23:69161906-69161906 - CSCC-31-T COSM4457355 c.477C>T p.D159D Substitution - coding silent 23:69162198-69162198 - TCGA-AP-A054-01 COSM1124313 c.453G>A p.P151P Substitution - coding silent 23:69162222-69162222 - TCGA-EB-A5UM-01 COSM3562914 c.461G>A p.R154Q Substitution - Missense 23:69162214-69162214 - I2L-P7-Tumor-Organoid COSM5367368 c.949G>A p.E317K Substitution - Missense 23:69161726-69161726 - TCGA-KK-A59V-01 COSM4878750 c.626C>T p.P209L Substitution - Missense 23:69162049-69162049 - 545 COSM1682691 c.457C>T p.R153* Substitution - Nonsense 23:69162218-69162218 - NCI-H522 COSM1682691 c.457C>T p.R153* Substitution - Nonsense 23:69162218-69162218 - TCGA-BH-A0DZ-01 COSM457895 c.280G>A p.E94K Substitution - Missense 23:69162959-69162959 - TCGA-AP-A0LE-01 COSM1124317 c.378T>C p.S126S Substitution - coding silent 23:69162297-69162297 - HCC078T COSM5806423 c.947G>T p.S316I Substitution - Missense 23:69161728-69161728 - CHC1754T COSM4792911 c.464G>T p.R155L Substitution - Missense 23:69162211-69162211 - TCGA-24-2271-01 COSM117114 c.1325G>T p.G442V Substitution - Missense 23:69161350-69161350 - Pat_40_A COSM5878159 c.770G>A p.R257Q Substitution - Missense 23:69161905-69161905 - 587332 COSM1220701 c.487T>C p.W163R Substitution - Missense 23:69162188-69162188 - BK0038 COSM4187183 c.343G>T p.G115C Substitution - Missense 23:69162332-69162332 - Pat_41_B COSM5878157 c.860G>A p.G287E Substitution - Missense 23:69161815-69161815 - ESO-0029 COSM1262255 c.293+7G>A p.? Unknown 23:69162939-69162939 - J52_T COSM3965462 c.967T>G p.W323G Substitution - Missense 23:69161708-69161708 - TCGA-HU-8602-01 COSM3845226 c.462A>G p.R154R Substitution - coding silent 23:69162213-69162213 - TCGA-AP-A0LM-01 COSM1124311 c.519C>T p.C173C Substitution - coding silent 23:69162156-69162156 - CHC1754T COSM4792911 c.464G>T p.R155L Substitution - Missense 23:69162211-69162211 - TCGA-C5-A1BI-01 COSM4841580 c.72G>A p.R24R Substitution - coding silent 23:69163167-69163167 - TCGA-AX-A05Z-01 COSM1124307 c.825G>T p.W275C Substitution - Missense 23:69161850-69161850 - TCGA-AL-3472-01 COSM3992559 c.315C>T p.T105T Substitution - coding silent 23:69162360-69162360 - CSCC-35-T COSM4538632 c.257G>A p.G86E Substitution - Missense 23:69162982-69162982 - MO_1192 COSM5562508 c.820C>T p.P274S Substitution - Missense 23:69161855-69161855 - TCGA-BR-6452-01 COSM4110697 c.519C>A p.C173* Substitution - Nonsense 23:69162156-69162156 - TCGA-CJ-4900-01 COSM1497351 c.204C>T p.S68S Substitution - coding silent 23:69163035-69163035 - AOCS-058-1-5 COSM4136350 c.1269G>T p.L423L Substitution - coding silent 23:69161406-69161406 - TCGA-BH-A0B6-01 COSM3845222 c.790G>C p.E264Q Substitution - Missense 23:69161885-69161885 - MO_1192 COSM5562371 c.647C>T p.P216L Substitution - Missense 23:69162028-69162028 - TCGA-AG-A002-01 COSM262942 c.1325G>A p.G442D Substitution - Missense 23:69161350-69161350 - TCGA-DS-A1OC-01 COSM1294596 c.217T>G p.S73A Substitution - Missense 23:69163022-69163022 - Pat_14_A COSM5878155 c.1129G>A p.A377T Substitution - Missense 23:69161546-69161546 - E COSM3728468 c.1156A>G p.I386V Substitution - Missense 23:69161519-69161519 - CHC892T COSM4797797 c.713G>A p.G238E Substitution - Missense 23:69161962-69161962 - TCGA-AA-3715-01 COSM269892 c.1112C>T p.A371V Substitution - Missense 23:69161563-69161563 - TCGA-D1-A167-01 COSM1124303 c.1171G>A p.E391K Substitution - Missense 23:69161504-69161504 - TCGA-EE-A2GO-06 COSM3562916 c.388G>A p.E130K Substitution - Missense 23:69162287-69162287 - TCGA-22-1012-01 COSM757751 c.1113A>G p.A371A Substitution - coding silent 23:69161562-69161562 - LUAD-S01315 COSM385746 c.730A>C p.S244R Substitution - Missense 23:69161945-69161945 - TCGA-BR-4368-01 COSM4110693 c.1134T>A p.N378K Substitution - Missense 23:69161541-69161541 - TCGA-AA-3695-01 COSM268435 c.1111G>A p.A371T Substitution - Missense 23:69161564-69161564 - T1154 COSM4714641 c.833A>G p.Y278C Substitution - Missense 23:69161842-69161842 - ESCC-D20 COSM5046022 c.615G>A p.W205* Substitution - Nonsense 23:69162060-69162060 - TCGA-D3-A51T-06 COSM3562919 c.226C>T p.R76C Substitution - Missense 23:69163013-69163013 - C086 COSM5537106 c.150G>A p.T50T Substitution - coding silent 23:69163089-69163089 - ESO-H01 COSM1262257 c.918C>A p.N306K Substitution - Missense 23:69161757-69161757 - Pat_40_B COSM5878159 c.770G>A p.R257Q Substitution - Missense 23:69161905-69161905 - TCGA-EX-A1H6-01 COSM4848905 c.1296G>A p.P432P Substitution - coding silent 23:69161379-69161379 - U2940 COSM5621529 c.1124A>C p.E375A Substitution - Missense 23:69161551-69161551 - TCGA-BG-A0MU-01 COSM1124305 c.1094C>T p.A365V Substitution - Missense 23:69161581-69161581 - pfg181T COSM4756892 c.419C>T p.A140V Substitution - Missense 23:69162256-69162256 - T3021 COSM4714645 c.475G>A p.D159N Substitution - Missense 23:69162200-69162200 - TCGA-BH-A0HA-01 COSM457897 c.254C>T p.S85L Substitution - Missense 23:69162985-69162985 - sysucc-1365T COSM1124305 c.1094C>T p.A365V Substitution - Missense 23:69161581-69161581 - TCGA-56-6545-01 COSM757748 c.45A>T p.G15G Substitution - coding silent 23:69163194-69163194 - TCGA-AN-A046-01 COSM3845226 c.462A>G p.R154R Substitution - coding silent 23:69162213-69162213 - S01297 COSM5667884 c.250A>T p.S84C Substitution - Missense 23:69162989-69162989 - T3658 COSM4714639 c.1198G>A p.A400T Substitution - Missense 23:69161477-69161477 - T2269 COSM4714643 c.547T>C p.W183R Substitution - Missense 23:69162128-69162128 - TCGA-D1-A17D-01 COSM1124301 c.1274G>A p.C425Y Substitution - Missense 23:69161401-69161401 - TCGA-AP-A056-01 COSM1124309 c.523G>A p.E175K Substitution - Missense 23:69162152-69162152 - TCGA-AP-A056-01 COSM457897 c.254C>T p.S85L Substitution - Missense 23:69162985-69162985 - TCGA-BR-6452-01 COSM4110691 c.1240T>C p.Y414H Substitution - Missense 23:69161435-69161435 - TCGA-BR-4184-01 COSM4110699 c.333C>T p.G111G Substitution - coding silent 23:69162342-69162342 - SNUH_G76_S1 COSM4417456 c.606C>T p.G202G Substitution - coding silent 23:69162069-69162069 - TCGA-CD-A48A-01 COSM4110702 c.122G>A p.R41Q Substitution - Missense 23:69163117-69163117 - 2367111 COSM4997274 c.743A>G p.N248S Substitution - Missense 23:69161932-69161932 - TCGA-D7-A4Z0-01 COSM4110695 c.610A>G p.S204G Substitution - Missense 23:69162065-69162065 - TCGA-AP-A051-01 COSM1124324 c.205C>T p.R69* Substitution - Nonsense 23:69163034-69163034 - STC263 COSM5064825 c.1063C>T p.R355C Substitution - Missense 23:69161612-69161612 - RK308_C01 COSM3767036 c.712G>A p.G238R Substitution - Missense 23:69161963-69161963 - TCGA-FS-A1ZZ-06 COSM3562912 c.982G>A p.G328R Substitution - Missense 23:69161693-69161693 - TCGA-AB-2854-03 COSM1319416 c.112A>G p.T38A Substitution - Missense 23:69163127-69163127 - HCT15 COSM3094723 c.264C>T p.N88N Substitution - coding silent 23:69162975-69162975 - YUTRAIN COSM5412977 c.255G>A p.S85S Substitution - coding silent 23:69162984-69162984 - TCGA-AN-A0FL-01 COSM457892 c.1049T>C p.M350T Substitution - Missense 23:69161626-69161626 - YUAKER COSM1715083 c.155C>T p.S52F Substitution - Missense 23:69163084-69163084 - TCGA-AN-A046-01 COSM3845224 c.769C>T p.R257* Substitution - Nonsense 23:69161906-69161906 - TCGA-A1-A0SK-01 COSM457899 c.25G>T p.V9L Substitution - Missense 23:69163214-69163214 - MO_1192 COSM5568361 c.800C>T p.S267F Substitution - Missense 23:69161875-69161875 - TCGA-AP-A0LM-01 COSM1124315 c.381C>T p.G127G Substitution - coding silent 23:69162294-69162294 - TCGA-E9-A1R3-01 COSM1491183 c.381C>G p.G127G Substitution - coding silent 23:69162294-69162294 - TCGA-DK-A3IQ-01 COSM1315645 c.862G>A p.D288N Substitution - Missense 23:69161813-69161813 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.522679 Xq13.1 300420

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Synonymous p.P417P c.1251T>G X 68381831 HNSC A - Frameshift p.F275Lfs*59 c.825delT X 68382257 STAD A G Missense p.M538T c.1613T>C X 68381469 BRCA A G Synonymous p.S314S c.942T>C X 68382140 UCEC A T Missense p.D278E c.834T>A X 68382248 COREAD A T Missense p.N566K c.1698T>A X 68381384 STAD C A Missense p.G418V c.1253G>T X 68381829 LUAD C A Missense p.G630V c.1889G>T X 68381193 OV C A Missense p.V509L c.1525G>T X 68381557 LUAD C A Missense p.V634L c.1900G>T X 68381182 LUAD C A Missense p.V9L c.25G>T X 68383057 BRCA C A Synonymous p.S85S c.255G>T X 68382827 CM C G Missense p.E253Q c.757G>C X 68382325 RCCC C G Missense p.R382P c.1145G>C X 68381937 LUAD C T Missense p.A559T c.1675G>A X 68381407 COREAD C T Missense p.C613Y c.1838G>A X 68381244 UCEC C T Missense p.D476N c.1426G>A X 68381656 BLCA C T Missense p.D500N c.1498G>A X 68381584 LUAD C T Missense p.E318K c.952G>A X 68382130 CM C T Missense p.G516R c.1546G>A X 68381536 CM C T Missense p.R257K c.770G>A X 68382312 CM C T Missense p.R376H c.1127G>A X 68381955 LUAD C T Synonymous p.P100P c.300G>A X 68382782 ESCA C T Synonymous p.P339P c.1017G>A X 68382065 UCEC C T Synonymous p.R225R c.675G>A X 68382407 CM G A Missense p.A553V c.1658C>T X 68381424 UCEC G A Missense p.P137L c.410C>T X 68382672 UCEC G A Missense p.P339S c.1015C>T X 68382067 LUAD G A Missense p.P397S c.1189C>T X 68381893 LUAD G A Missense p.S107L c.320C>T X 68382762 BLCA G A Nonsense p.Q465* c.1393C>T X 68381689 CM G A Nonsense p.R179* c.535C>T X 68382547 BRCA G A Nonsense p.R445* c.1333C>T X 68381749 CM G A Synonymous p.D119D c.357C>T X 68382725 CM G A Synonymous p.I260I c.780C>T X 68382302 CM G A Synonymous p.L513L c.1539C>T X 68381543 LUAD G C Synonymous p.G315G c.945C>G X 68382137 BRCA G T Missense p.N494K c.1482C>A X 68381600 ESCA T A Missense p.D492V c.1475A>T X 68381607 LUAD T A Missense p.I273F c.817A>T X 68382265 BRCA T A Missense p.K145M c.434A>T X 68382648 LUSC T A Missense p.K325N c.975A>T X 68382107 HNSC T A Missense p.S250C c.748A>T X 68382334 HNSC T A Nonsense p.R176* c.526A>T X 68382556 BRCA T A Synonymous p.G15G c.45A>T X 68383037 LUSC T C IntronicSNV . c.1-711A>G X 68383792 CLL T C Missense p.E253G c.758A>G X 68382324 COREAD T C Synonymous p.A559A c.1677A>G X 68381405 LUSC T G Missense p.M345L c.1033A>C X 68382049 LUAD