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 1 228596064 228596064 + Silent SNP G G A TCGA-K4-A5RI-01A-11D-A289-08 TCGA-K4-A5RI-10A-01D-A289-08 g.chr1:228596064G>A c.1272C>T c.(1270-1272)ttC>ttT p.F424F BLCA 1 228596357 228596357 + Missense_Mutation SNP C C T TCGA-DK-A6B2-01A-11D-A30E-08 TCGA-DK-A6B2-10A-01D-A30H-08 g.chr1:228596357C>T c.979G>A c.(979-981)Ggg>Agg p.G327R BLCA 1 228596898 228596898 + Missense_Mutation SNP C C G TCGA-MV-A51V-01A-11D-A26M-08 TCGA-MV-A51V-10A-01D-A26K-08 g.chr1:228596898C>G c.858G>C c.(856-858)caG>caC p.Q286H BLCA 1 228596906 228596906 + Missense_Mutation SNP G G A TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr1:228596906G>A c.850C>T c.(850-852)Ccc>Tcc p.P284S BLCA 1 228602726 228602726 + Silent SNP G G A TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr1:228602726G>A c.48C>T c.(46-48)tgC>tgT p.C16C BRCA 1 228596209 228596209 + Missense_Mutation SNP C C T TCGA-C8-A12O-01A-11D-A10Y-09 TCGA-C8-A12O-10A-01D-A110-09 g.chr1:228596209C>T c.1127G>A c.(1126-1128)cGg>cAg p.R376Q BRCA 1 228596888 228596888 + Missense_Mutation SNP G G C TCGA-D8-A1JS-01A-11D-A13L-09 TCGA-D8-A1JS-10A-01D-A13O-09 g.chr1:228596888G>C c.868C>G c.(868-870)Cta>Gta p.L290V BRCA 1 228598716 228598716 + Silent SNP A A T TCGA-BH-A18G-01A-11D-A12B-09 TCGA-BH-A18G-10A-01D-A12B-09 g.chr1:228598716A>T c.687T>A c.(685-687)ggT>ggA p.G229G BRCA 1 228601546 228601546 + Silent SNP C C T TCGA-BH-A0HF-01A-11W-A071-09 TCGA-BH-A0HF-10A-01W-A071-09 g.chr1:228601546C>T c.477G>A c.(475-477)agG>agA p.R159R CESC 1 228596204 228596204 + Missense_Mutation SNP C C A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr1:228596204C>A c.1132G>T c.(1132-1134)Gac>Tac p.D378Y CESC 1 228596276 228596276 + Missense_Mutation SNP C C G TCGA-DR-A0ZM-01A-12D-A10S-08 TCGA-DR-A0ZM-10A-01D-A10S-08 g.chr1:228596276C>G c.1060G>C c.(1060-1062)Gag>Cag p.E354Q CESC 1 228601524 228601524 + Missense_Mutation SNP C C T TCGA-EK-A2PM-01A-11D-A18J-09 TCGA-EK-A2PM-10A-01D-A18J-09 g.chr1:228601524C>T c.499G>A c.(499-501)Gag>Aag p.E167K CHOL 1 228602548 228602548 + Missense_Mutation SNP G G A TCGA-WD-A7RX-01A-12D-A417-09 TCGA-WD-A7RX-10A-01D-A41A-09 g.chr1:228602548G>A c.226C>T c.(226-228)Ccc>Tcc p.P76S COAD 1 228595962 228595962 + Silent SNP C C A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr1:228595962C>A c.1374G>T c.(1372-1374)ctG>ctT p.L458L COAD 1 228595962 228595962 + Silent SNP C C T TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr1:228595962C>T c.1374G>A c.(1372-1374)ctG>ctA p.L458L COAD 1 228596290 228596290 + Missense_Mutation SNP C C A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr1:228596290C>A c.1046G>T c.(1045-1047)gGg>gTg p.G349V COAD 1 228596338 228596338 + Missense_Mutation SNP C C T TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr1:228596338C>T c.998G>A c.(997-999)cGa>cAa p.R333Q COAD 1 228596778 228596779 + Intron INS - - CC TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr1:228596778_228596779insCC COAD 1 228596799 228596799 + Intron SNP C C T TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chr1:228596799C>T COAD 1 228596882 228596882 + Missense_Mutation SNP C C A TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr1:228596882C>A c.874G>T c.(874-876)Ggc>Tgc p.G292C COAD 1 228596898 228596898 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:228596898C>T c.858G>A c.(856-858)caG>caA p.Q286Q COAD 1 228598852 228598852 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:228598852C>T c.551G>A c.(550-552)cGc>cAc p.R184H COAD 1 228598861 228598861 + Missense_Mutation SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr1:228598861C>T c.542G>A c.(541-543)cGg>cAg p.R181Q COAD 1 228602465 228602465 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:228602465G>A c.309C>T c.(307-309)caC>caT p.H103H COAD 1 228602628 228602628 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:228602628C>T c.146G>A c.(145-147)gGc>gAc p.G49D COAD 1 228602767 228602767 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr1:228602767C>T c.7G>A c.(7-9)Gct>Act p.A3T COADREAD 1 228595962 228595962 + Silent SNP C C A TCGA-AA-3713-01A-21D-1719-10 TCGA-AA-3713-11A-01D-1719-10 g.chr1:228595962C>A c.1374G>T c.(1372-1374)ctG>ctT p.L458L COADREAD 1 228595962 228595962 + Silent SNP C C T TCGA-AZ-5407-01A-01D-1719-10 TCGA-AZ-5407-10A-01D-1719-10 g.chr1:228595962C>T c.1374G>A c.(1372-1374)ctG>ctA p.L458L COADREAD 1 228596290 228596290 + Missense_Mutation SNP C C A TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr1:228596290C>A c.1046G>T c.(1045-1047)gGg>gTg p.G349V COADREAD 1 228596338 228596338 + Missense_Mutation SNP C C T TCGA-CM-6163-01A-11D-1650-10 TCGA-CM-6163-10A-01D-1650-10 g.chr1:228596338C>T c.998G>A c.(997-999)cGa>cAa p.R333Q COADREAD 1 228596778 228596779 + Intron INS - - CC TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr1:228596778_228596779insCC COADREAD 1 228596799 228596799 + Intron SNP C C T TCGA-DM-A0X9-01A-11D-A152-10 TCGA-DM-A0X9-10A-01D-A152-10 g.chr1:228596799C>T COADREAD 1 228596882 228596882 + Missense_Mutation SNP C C A TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr1:228596882C>A c.874G>T c.(874-876)Ggc>Tgc p.G292C COADREAD 1 228596898 228596898 + Silent SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:228596898C>T c.858G>A c.(856-858)caG>caA p.Q286Q COADREAD 1 228598852 228598852 + Missense_Mutation SNP C C T TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr1:228598852C>T c.551G>A c.(550-552)cGc>cAc p.R184H COADREAD 1 228598861 228598861 + Missense_Mutation SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr1:228598861C>T c.542G>A c.(541-543)cGg>cAg p.R181Q COADREAD 1 228602465 228602465 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr1:228602465G>A c.309C>T c.(307-309)caC>caT p.H103H COADREAD 1 228602628 228602628 + Missense_Mutation SNP C C T TCGA-D5-6928-01A-11D-1924-10 TCGA-D5-6928-10A-01D-1924-10 g.chr1:228602628C>T c.146G>A c.(145-147)gGc>gAc p.G49D COADREAD 1 228602767 228602767 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr1:228602767C>T c.7G>A c.(7-9)Gct>Act p.A3T DLBC 1 228601506 228601506 + Missense_Mutation SNP C C T TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr1:228601506C>T c.517G>A c.(517-519)Gag>Aag p.E173K DLBC 1 228602459 228602459 + Silent SNP G G A TCGA-G8-6906-01A-11D-2210-10 TCGA-G8-6906-14A-01D-2210-10 g.chr1:228602459G>A c.315C>T c.(313-315)ccC>ccT p.P105P ESCA 1 228595948 228595948 + Missense_Mutation SNP G G T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 g.chr1:228595948G>T c.1388C>A c.(1387-1389)tCt>tAt p.S463Y ESCA 1 228596974 228596974 + Missense_Mutation SNP T T G TCGA-LN-A49V-01A-11D-A247-09 TCGA-LN-A49V-10A-01D-A247-09 g.chr1:228596974T>G c.782A>C c.(781-783)aAg>aCg p.K261T ESCA 1 228602544 228602544 + Missense_Mutation SNP T T A TCGA-VR-AA7D-01A-11D-A403-09 TCGA-VR-AA7D-10A-01D-A403-09 g.chr1:228602544T>A c.230A>T c.(229-231)aAc>aTc p.N77I GBMLGG 1 228598777 228598777 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:228598777G>A c.626C>T c.(625-627)aCg>aTg p.T209M GBMLGG 1 228602614 228602614 + Missense_Mutation SNP G G A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 g.chr1:228602614G>A c.160C>T c.(160-162)Cgg>Tgg p.R54W GBMLGG 1 228602720 228602720 + Silent SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:228602720G>T c.54C>A c.(52-54)atC>atA p.I18I HNSC 1 228596365 228596365 + Missense_Mutation SNP T T C TCGA-CN-5363-01A-01D-1434-08 TCGA-CN-5363-10A-01D-1434-08 g.chr1:228596365T>C c.971A>G c.(970-972)gAg>gGg p.E324G HNSC 1 228596742 228596742 + Intron SNP T T C TCGA-CV-6934-01A-11D-1912-08 TCGA-CV-6934-10A-01D-1912-08 g.chr1:228596742T>C HNSC 1 228602428 228602428 + Missense_Mutation SNP G G T TCGA-CN-A63U-01A-11D-A30E-08 TCGA-CN-A63U-10A-01D-A30H-08 g.chr1:228602428G>T c.346C>A c.(346-348)Ccc>Acc p.P116T LGG 1 228598777 228598777 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:228598777G>A c.626C>T c.(625-627)aCg>aTg p.T209M LGG 1 228602614 228602614 + Missense_Mutation SNP G G A TCGA-DU-A7TJ-01A-11D-A34J-08 TCGA-DU-A7TJ-10A-01D-A34M-08 g.chr1:228602614G>A c.160C>T c.(160-162)Cgg>Tgg p.R54W LGG 1 228602720 228602720 + Silent SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:228602720G>T c.54C>A c.(52-54)atC>atA p.I18I LUAD 1 228596162 228596162 + Missense_Mutation SNP G G C TCGA-38-4631-01A-01D-1753-08 TCGA-38-4631-11A-01D-1753-08 g.chr1:228596162G>C c.1174C>G c.(1174-1176)Cag>Gag p.Q392E LUAD 1 228596269 228596269 + Missense_Mutation SNP C C T TCGA-17-Z052-01A-01W-0747-08 TCGA-17-Z052-11A-01W-0747-08 g.chr1:228596269C>T c.1067G>A c.(1066-1068)gGc>gAc p.G356D LUAD 1 228596424 228596424 + Silent SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr1:228596424C>T c.912G>A c.(910-912)gcG>gcA p.A304A LUAD 1 228596765 228596765 + Intron SNP G G T TCGA-55-8089-01A-11D-2238-08 TCGA-55-8089-10A-01D-2238-08 g.chr1:228596765G>T LUAD 1 228596900 228596901 + Frame_Shift_Ins INS - - TT TCGA-99-8032-01A-11D-2238-08 TCGA-99-8032-10A-01D-2238-08 g.chr1:228596900_228596901insTT c.855_856insAA c.(853-858)ggacagfs p.Q286fs LUAD 1 228596935 228596935 + Frame_Shift_Del DEL G G - TCGA-86-A4JF-01A-11D-A24P-08 TCGA-86-A4JF-10A-01D-A24P-08 g.chr1:228596935delG c.821delC c.(820-822)ccafs p.P274fs LUAD 1 228602389 228602389 + Missense_Mutation SNP G G T TCGA-L9-A444-01A-21D-A24D-08 TCGA-L9-A444-10A-01D-A24F-08 g.chr1:228602389G>T c.385C>A c.(385-387)Ctg>Atg p.L129M LUAD 1 228602468 228602468 + Missense_Mutation SNP G G T TCGA-75-7027-01A-11D-1945-08 TCGA-75-7027-10A-01D-1946-08 g.chr1:228602468G>T c.306C>A c.(304-306)caC>caA p.H102Q LUAD 1 228602593 228602594 + Frame_Shift_Ins INS - - T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr1:228602593_228602594insT c.180_181insA c.(178-183)ttccccfs p.P61fs LUAD 1 228602674 228602674 + Missense_Mutation SNP T T C TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr1:228602674T>C c.100A>G c.(100-102)Aac>Gac p.N34D LUSC 1 228596932 228596932 + Missense_Mutation SNP G G T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr1:228596932G>T c.824C>A c.(823-825)aCc>aAc p.T275N OV 1 228595964 228595964 + Missense_Mutation SNP G G T TCGA-13-0726-01A-01W-0372-09 TCGA-13-0726-10B-01W-0977-09 g.chr1:228595964G>T c.1372C>A c.(1372-1374)Ctg>Atg p.L458M OV 1 228598732 228598732 + Missense_Mutation SNP C C A TCGA-29-1777-01A-01W-0639-09 TCGA-29-1777-10A-01W-0639-09 g.chr1:228598732C>A c.671G>T c.(670-672)tGc>tTc p.C224F OV 1 228602478 228602478 + Missense_Mutation SNP C C T TCGA-61-1904-01A-01W-0639-09 TCGA-61-1904-11A-01W-0640-09 g.chr1:228602478C>T c.296G>A c.(295-297)tGc>tAc p.C99Y PAAD 1 228595985 228595985 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:228595985G>A c.1351C>T c.(1351-1353)Ccc>Tcc p.P451S PAAD 1 228596786 228596786 + Intron SNP C C T TCGA-XD-AAUI-01A-42D-A40W-08 TCGA-XD-AAUI-10A-01D-A40W-08 g.chr1:228596786C>T PAAD 1 228596798 228596798 + Intron DEL C C - TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:228596798delC PCPG 1 228596255 228596255 + Missense_Mutation SNP C C A TCGA-RW-A8AZ-01A-11D-A35D-08 TCGA-RW-A8AZ-10A-01D-A35B-08 g.chr1:228596255C>A c.1081G>T c.(1081-1083)Ggg>Tgg p.G361W PCPG 1 228596776 228596776 + Intron SNP G G C TCGA-WB-A818-01A-11D-A35I-08 TCGA-WB-A818-10A-01D-A35G-08 g.chr1:228596776G>C SKCM 1 228596250 228596250 + Silent SNP G G A TCGA-DA-A1IA-06A-11D-A196-08 TCGA-DA-A1IA-10A-01D-A198-08 g.chr1:228596250G>A c.1086C>T c.(1084-1086)gaC>gaT p.D362D SKCM 1 228596752 228596752 + Intron SNP C C T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr1:228596752C>T SKCM 1 228596798 228596798 + Intron SNP C C T TCGA-D3-A1Q6-06A-11D-A196-08 TCGA-D3-A1Q6-10A-01D-A198-08 g.chr1:228596798C>T SKCM 1 228596850 228596850 + Intron SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr1:228596850C>T SKCM 1 228596850 228596850 + Intron SNP C C T TCGA-FS-A1ZT-06A-11D-A197-08 TCGA-FS-A1ZT-10A-01D-A199-08 g.chr1:228596850C>T SKCM 1 228596894 228596894 + Missense_Mutation SNP C C T TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr1:228596894C>T c.862G>A c.(862-864)Gaa>Aaa p.E288K SKCM 1 228596903 228596903 + Missense_Mutation SNP C C T TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr1:228596903C>T c.853G>A c.(853-855)Gga>Aga p.G285R SKCM 1 228596950 228596950 + Missense_Mutation SNP G G A TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr1:228596950G>A c.806C>T c.(805-807)cCa>cTa p.P269L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 1 228602367 228602367 single base substitution T A downstream_gene_variant BLCA-CN 1 228602367 228602367 single base substitution T A missense_variant E109V 326A>T BLCA-CN 1 228602367 228602367 single base substitution T A missense_variant E136V 407A>T BLCA-CN 1 228602768 228602768 single base substitution C T intron_variant BLCA-CN 1 228602768 228602768 single base substitution C T synonymous_variant E2E 6G>A BRCA-EU 1 228591331 228591331 single base substitution C T downstream_gene_variant BRCA-EU 1 228592787 228592787 single base substitution T A downstream_gene_variant BRCA-EU 1 228593412 228593412 single base substitution G T downstream_gene_variant BRCA-EU 1 228593725 228593725 single base substitution C T downstream_gene_variant BRCA-EU 1 228594121 228594121 single base substitution C T downstream_gene_variant BRCA-EU 1 228594484 228594484 single base substitution G C downstream_gene_variant BRCA-EU 1 228595071 228595071 single base substitution C G downstream_gene_variant BRCA-EU 1 228596320 228596320 single base substitution C G downstream_gene_variant BRCA-EU 1 228596320 228596320 single base substitution C G missense_variant C339S 1016G>C BRCA-EU 1 228596779 228596779 deletion of <=200bp C - downstream_gene_variant BRCA-EU 1 228596779 228596779 deletion of <=200bp C - frameshift_variant G326 BRCA-EU 1 228596779 228596779 deletion of <=200bp C - intron_variant BRCA-EU 1 228598162 228598162 single base substitution T A downstream_gene_variant BRCA-EU 1 228598162 228598162 single base substitution T A intron_variant BRCA-EU 1 228599042 228599042 single base substitution T G downstream_gene_variant BRCA-EU 1 228599042 228599042 single base substitution T G intron_variant BRCA-EU 1 228600593 228600593 single base substitution G C downstream_gene_variant BRCA-EU 1 228600593 228600593 single base substitution G C intron_variant BRCA-EU 1 228602111 228602111 single base substitution G T downstream_gene_variant BRCA-EU 1 228602111 228602111 single base substitution G T intron_variant BRCA-EU 1 228605773 228605773 single base substitution G T upstream_gene_variant BRCA-EU 1 228606870 228606870 single base substitution G C upstream_gene_variant BRCA-EU 1 228607670 228607670 single base substitution G C upstream_gene_variant BRCA-EU 1 228608330 228608330 single base substitution C T upstream_gene_variant BRCA-EU 1 228608430 228608430 single base substitution G A upstream_gene_variant BRCA-EU 1 228608612 228608612 single base substitution A G upstream_gene_variant BRCA-EU 1 228608883 228608883 single base substitution A G upstream_gene_variant BRCA-FR 1 228594115 228594115 single base substitution G T downstream_gene_variant BRCA-FR 1 228606288 228606288 single base substitution G A upstream_gene_variant BRCA-FR 1 228607670 228607670 single base substitution G C upstream_gene_variant BRCA-UK 1 228596178 228596178 single base substitution G A downstream_gene_variant BRCA-UK 1 228596178 228596178 single base substitution G A synonymous_variant N386N 1158C>T BRCA-US 1 228596209 228596209 single base substitution C T downstream_gene_variant BRCA-US 1 228596209 228596209 single base substitution C T missense_variant R376Q 1127G>A BRCA-US 1 228596779 228596779 deletion of <=200bp C - downstream_gene_variant BRCA-US 1 228596779 228596779 deletion of <=200bp C - frameshift_variant G326 BRCA-US 1 228596779 228596779 deletion of <=200bp C - intron_variant BRCA-US 1 228596888 228596888 single base substitution G C downstream_gene_variant BRCA-US 1 228596888 228596888 single base substitution G C missense_variant L263V 787C>G BRCA-US 1 228596888 228596888 single base substitution G C missense_variant L290V 868C>G BRCA-US 1 228598716 228598716 single base substitution A T downstream_gene_variant BRCA-US 1 228598716 228598716 single base substitution A T synonymous_variant G202G 606T>A BRCA-US 1 228598716 228598716 single base substitution A T synonymous_variant G229G 687T>A BRCA-US 1 228601546 228601546 single base substitution C T downstream_gene_variant BRCA-US 1 228601546 228601546 single base substitution C T synonymous_variant R132R 396G>A BRCA-US 1 228601546 228601546 single base substitution C T synonymous_variant R159R 477G>A CESC-US 1 228596204 228596204 single base substitution C A downstream_gene_variant CESC-US 1 228596204 228596204 single base substitution C A missense_variant D378Y 1132G>T CESC-US 1 228596276 228596276 single base substitution C G downstream_gene_variant CESC-US 1 228596276 228596276 single base substitution C G missense_variant E354Q 1060G>C CESC-US 1 228601524 228601524 single base substitution C T downstream_gene_variant CESC-US 1 228601524 228601524 single base substitution C T missense_variant E140K 418G>A CESC-US 1 228601524 228601524 single base substitution C T missense_variant E167K 499G>A CLLE-ES 1 228597791 228597791 single base substitution T C downstream_gene_variant CLLE-ES 1 228597791 228597791 single base substitution T C intron_variant COAD-US 1 228596290 228596290 single base substitution C A downstream_gene_variant COAD-US 1 228596290 228596290 single base substitution C A missense_variant G349V 1046G>T COAD-US 1 228596338 228596338 single base substitution C T downstream_gene_variant COAD-US 1 228596338 228596338 single base substitution C T missense_variant R333Q 998G>A COAD-US 1 228596778 228596778 insertion of <=200bp - C downstream_gene_variant COAD-US 1 228596778 228596778 insertion of <=200bp - C frameshift_variant G326G? COAD-US 1 228596778 228596778 insertion of <=200bp - C intron_variant COAD-US 1 228596799 228596799 single base substitution C T downstream_gene_variant COAD-US 1 228596799 228596799 single base substitution C T intron_variant COAD-US 1 228596799 228596799 single base substitution C T synonymous_variant S319S 957G>A COAD-US 1 228596898 228596898 single base substitution C T downstream_gene_variant COAD-US 1 228596898 228596898 single base substitution C T synonymous_variant Q259Q 777G>A COAD-US 1 228596898 228596898 single base substitution C T synonymous_variant Q286Q 858G>A COAD-US 1 228598861 228598861 single base substitution C T downstream_gene_variant COAD-US 1 228598861 228598861 single base substitution C T missense_variant R154Q 461G>A COAD-US 1 228598861 228598861 single base substitution C T missense_variant R181Q 542G>A COAD-US 1 228602465 228602465 single base substitution G A downstream_gene_variant COAD-US 1 228602465 228602465 single base substitution G A synonymous_variant H103H 309C>T COAD-US 1 228602465 228602465 single base substitution G A synonymous_variant H76H 228C>T COAD-US 1 228602513 228602513 single base substitution C T downstream_gene_variant COAD-US 1 228602513 228602513 single base substitution C T synonymous_variant A60A 180G>A COAD-US 1 228602513 228602513 single base substitution C T synonymous_variant A87A 261G>A COAD-US 1 228602564 228602564 single base substitution C T downstream_gene_variant COAD-US 1 228602564 228602564 single base substitution C T synonymous_variant P43P 129G>A COAD-US 1 228602564 228602564 single base substitution C T synonymous_variant P70P 210G>A COAD-US 1 228602628 228602628 single base substitution C T missense_variant G22D 65G>A COAD-US 1 228602628 228602628 single base substitution C T missense_variant G49D 146G>A COAD-US 1 228602660 228602660 single base substitution G C synonymous_variant A11A 33C>G COAD-US 1 228602660 228602660 single base substitution G C synonymous_variant A38A 114C>G COCA-CN 1 228596966 228596966 single base substitution C T downstream_gene_variant COCA-CN 1 228596966 228596966 single base substitution C T missense_variant V237M 709G>A COCA-CN 1 228596966 228596966 single base substitution C T missense_variant V264M 790G>A COCA-CN 1 228601742 228601742 single base substitution C A downstream_gene_variant COCA-CN 1 228601742 228601742 single base substitution C A intron_variant ESAD-UK 1 228593184 228593184 single base substitution A T downstream_gene_variant ESAD-UK 1 228594158 228594158 single base substitution G T downstream_gene_variant ESAD-UK 1 228595460 228595460 single base substitution C T downstream_gene_variant ESAD-UK 1 228597042 228597042 single base substitution C A downstream_gene_variant ESAD-UK 1 228597042 228597042 single base substitution C A intron_variant ESAD-UK 1 228599000 228599000 single base substitution C T downstream_gene_variant ESAD-UK 1 228599000 228599000 single base substitution C T intron_variant ESAD-UK 1 228599316 228599316 single base substitution C A downstream_gene_variant ESAD-UK 1 228599316 228599316 single base substitution C A intron_variant ESAD-UK 1 228601407 228601407 single base substitution G A downstream_gene_variant ESAD-UK 1 228601407 228601407 single base substitution G A intron_variant ESAD-UK 1 228601692 228601692 single base substitution C A downstream_gene_variant ESAD-UK 1 228601692 228601692 single base substitution C A intron_variant ESAD-UK 1 228603746 228603746 single base substitution C T intron_variant ESAD-UK 1 228603746 228603746 single base substitution C T upstream_gene_variant ESAD-UK 1 228606563 228606563 single base substitution C T upstream_gene_variant ESAD-UK 1 228606769 228606769 single base substitution C T upstream_gene_variant ESAD-UK 1 228606941 228606941 single base substitution C G upstream_gene_variant ESAD-UK 1 228606997 228606997 single base substitution G A upstream_gene_variant ESAD-UK 1 228607599 228607599 single base substitution T C upstream_gene_variant ESAD-UK 1 228608508 228608508 single base substitution C A upstream_gene_variant ESAD-UK 1 228609033 228609033 single base substitution G T upstream_gene_variant ESCA-CN 1 228596438 228596438 single base substitution C T 3_prime_UTR_variant ESCA-CN 1 228596438 228596438 single base substitution C T downstream_gene_variant ESCA-CN 1 228596438 228596438 single base substitution C T missense_variant D300N 898G>A ESCA-CN 1 228596778 228596778 insertion of <=200bp - C downstream_gene_variant ESCA-CN 1 228596778 228596778 insertion of <=200bp - C frameshift_variant G326G? ESCA-CN 1 228596778 228596778 insertion of <=200bp - C intron_variant ESCA-CN 1 228602473 228602473 single base substitution C G downstream_gene_variant ESCA-CN 1 228602473 228602473 single base substitution C G missense_variant E101Q 301G>C ESCA-CN 1 228602473 228602473 single base substitution C G missense_variant E74Q 220G>C LICA-FR 1 228592750 228592750 single base substitution C A downstream_gene_variant LICA-FR 1 228596302 228596302 single base substitution G A downstream_gene_variant LICA-FR 1 228596302 228596302 single base substitution G A missense_variant A345V 1034C>T LICA-FR 1 228596933 228596933 insertion of <=200bp - T downstream_gene_variant LICA-FR 1 228596933 228596933 insertion of <=200bp - T frameshift_variant T248N? LICA-FR 1 228596933 228596933 insertion of <=200bp - T frameshift_variant T275N? LICA-FR 1 228598619 228598619 single base substitution A C downstream_gene_variant LICA-FR 1 228598619 228598619 single base substitution A C intron_variant LICA-FR 1 228602509 228602509 single base substitution G T downstream_gene_variant LICA-FR 1 228602509 228602509 single base substitution G T missense_variant Q62K 184C>A LICA-FR 1 228602509 228602509 single base substitution G T missense_variant Q89K 265C>A LICA-FR 1 228602539 228602539 single base substitution G T downstream_gene_variant LICA-FR 1 228602539 228602539 single base substitution G T missense_variant L52M 154C>A LICA-FR 1 228602539 228602539 single base substitution G T missense_variant L79M 235C>A LINC-JP 1 228597066 228597066 single base substitution C G downstream_gene_variant LINC-JP 1 228597066 228597066 single base substitution C G intron_variant LINC-JP 1 228597945 228597945 single base substitution G A downstream_gene_variant LINC-JP 1 228597945 228597945 single base substitution G A intron_variant LINC-JP 1 228598685 228598685 single base substitution C A downstream_gene_variant LINC-JP 1 228598685 228598685 single base substitution C A stop_gained E213* 637G>T LINC-JP 1 228598685 228598685 single base substitution C A stop_gained E240* 718G>T LINC-JP 1 228602821 228602821 single base substitution A G 5_prime_UTR_variant LINC-JP 1 228602821 228602821 single base substitution A G intron_variant LINC-JP 1 228602821 228602821 single base substitution A G splice_region_variant LINC-JP 1 228602884 228602884 single base substitution C T 5_prime_UTR_variant LINC-JP 1 228602884 228602884 single base substitution C T intron_variant LINC-JP 1 228605388 228605388 single base substitution C T upstream_gene_variant LIRI-JP 1 228596779 228596779 insertion of <=200bp - C downstream_gene_variant LIRI-JP 1 228596779 228596779 insertion of <=200bp - C frameshift_variant G326G? LIRI-JP 1 228596779 228596779 insertion of <=200bp - C intron_variant LIRI-JP 1 228596912 228596912 single base substitution T C downstream_gene_variant LIRI-JP 1 228596912 228596912 single base substitution T C missense_variant R255G 763A>G LIRI-JP 1 228596912 228596912 single base substitution T C missense_variant R282G 844A>G LIRI-JP 1 228597583 228597583 single base substitution A G downstream_gene_variant LIRI-JP 1 228597583 228597583 single base substitution A G intron_variant LIRI-JP 1 228598211 228598211 single base substitution C T downstream_gene_variant LIRI-JP 1 228598211 228598211 single base substitution C T intron_variant LIRI-JP 1 228603027 228603029 deletion of <=200bp CTC - 5_prime_UTR_variant LIRI-JP 1 228603027 228603029 deletion of <=200bp CTC - intron_variant LIRI-JP 1 228605049 228605049 single base substitution C A upstream_gene_variant LIRI-JP 1 228607389 228607389 single base substitution G A upstream_gene_variant LIRI-JP 1 228608435 228608435 single base substitution G T upstream_gene_variant LIRI-JP 1 228609438 228609438 single base substitution T G upstream_gene_variant LUSC-KR 1 228593840 228593840 single base substitution C A downstream_gene_variant LUSC-KR 1 228595715 228595715 single base substitution C G 3_prime_UTR_variant LUSC-KR 1 228595715 228595715 single base substitution C G downstream_gene_variant LUSC-KR 1 228608376 228608376 single base substitution T C upstream_gene_variant LUSC-US 1 228594100 228594100 single base substitution C T downstream_gene_variant LUSC-US 1 228596932 228596932 single base substitution G T downstream_gene_variant LUSC-US 1 228596932 228596932 single base substitution G T missense_variant T248N 743C>A LUSC-US 1 228596932 228596932 single base substitution G T missense_variant T275N 824C>A MALY-DE 1 228606769 228606769 single base substitution C G upstream_gene_variant MELA-AU 1 228590729 228590729 single base substitution C T downstream_gene_variant MELA-AU 1 228591349 228591349 single base substitution G A downstream_gene_variant MELA-AU 1 228591981 228591981 single base substitution G A downstream_gene_variant MELA-AU 1 228592124 228592124 insertion of <=200bp - G downstream_gene_variant MELA-AU 1 228592681 228592681 single base substitution G A downstream_gene_variant MELA-AU 1 228592912 228592912 single base substitution A G downstream_gene_variant MELA-AU 1 228592944 228592944 single base substitution G A downstream_gene_variant MELA-AU 1 228593353 228593353 single base substitution G A downstream_gene_variant MELA-AU 1 228593594 228593594 single base substitution C T downstream_gene_variant MELA-AU 1 228593764 228593764 single base substitution C T downstream_gene_variant MELA-AU 1 228596534 228596534 single base substitution G A 3_prime_UTR_variant MELA-AU 1 228596534 228596534 single base substitution G A downstream_gene_variant MELA-AU 1 228596534 228596534 single base substitution G A intron_variant MELA-AU 1 228597236 228597236 single base substitution C T downstream_gene_variant MELA-AU 1 228597236 228597236 single base substitution C T intron_variant MELA-AU 1 228597732 228597733 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 228597732 228597733 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 228597813 228597813 single base substitution T G downstream_gene_variant MELA-AU 1 228597813 228597813 single base substitution T G intron_variant MELA-AU 1 228598044 228598044 single base substitution C T downstream_gene_variant MELA-AU 1 228598044 228598044 single base substitution C T intron_variant MELA-AU 1 228598474 228598474 single base substitution C T downstream_gene_variant MELA-AU 1 228598474 228598474 single base substitution C T intron_variant MELA-AU 1 228598824 228598824 single base substitution G C downstream_gene_variant MELA-AU 1 228598824 228598824 single base substitution G C missense_variant N166K 498C>G MELA-AU 1 228598824 228598824 single base substitution G C missense_variant N193K 579C>G MELA-AU 1 228600795 228600795 single base substitution C T downstream_gene_variant MELA-AU 1 228600795 228600795 single base substitution C T intron_variant MELA-AU 1 228600943 228600943 single base substitution C T downstream_gene_variant MELA-AU 1 228600943 228600943 single base substitution C T intron_variant MELA-AU 1 228601168 228601168 single base substitution T G downstream_gene_variant MELA-AU 1 228601168 228601168 single base substitution T G intron_variant MELA-AU 1 228601746 228601746 single base substitution G A downstream_gene_variant MELA-AU 1 228601746 228601746 single base substitution G A intron_variant MELA-AU 1 228601892 228601892 single base substitution G A downstream_gene_variant MELA-AU 1 228601892 228601892 single base substitution G A intron_variant MELA-AU 1 228602237 228602238 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 1 228602237 228602238 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 228602869 228602869 single base substitution C T 5_prime_UTR_variant MELA-AU 1 228602869 228602869 single base substitution C T intron_variant MELA-AU 1 228604203 228604203 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 1 228604203 228604203 single base substitution G A intron_variant MELA-AU 1 228604203 228604203 single base substitution G A upstream_gene_variant MELA-AU 1 228604422 228604422 single base substitution G A 5_prime_UTR_variant MELA-AU 1 228604422 228604422 single base substitution G A upstream_gene_variant MELA-AU 1 228605910 228605910 single base substitution C T upstream_gene_variant MELA-AU 1 228606398 228606398 single base substitution C T upstream_gene_variant MELA-AU 1 228607459 228607459 single base substitution T A upstream_gene_variant MELA-AU 1 228607745 228607745 single base substitution C T upstream_gene_variant MELA-AU 1 228607832 228607832 single base substitution C T upstream_gene_variant MELA-AU 1 228608046 228608046 single base substitution T C upstream_gene_variant MELA-AU 1 228608423 228608423 single base substitution C T upstream_gene_variant MELA-AU 1 228608707 228608707 single base substitution C T upstream_gene_variant MELA-AU 1 228609051 228609051 single base substitution G C upstream_gene_variant MELA-AU 1 228609123 228609123 single base substitution T A upstream_gene_variant MELA-AU 1 228609201 228609201 single base substitution C T upstream_gene_variant MELA-AU 1 228609298 228609298 single base substitution C T upstream_gene_variant MELA-AU 1 228609440 228609440 single base substitution C T upstream_gene_variant MELA-AU 1 228609457 228609457 single base substitution C T upstream_gene_variant ORCA-IN 1 228599794 228599794 single base substitution C T downstream_gene_variant ORCA-IN 1 228599794 228599794 single base substitution C T intron_variant ORCA-IN 1 228606696 228606696 single base substitution G A upstream_gene_variant OV-AU 1 228591999 228591999 single base substitution C A downstream_gene_variant OV-AU 1 228593310 228593310 single base substitution C G downstream_gene_variant OV-AU 1 228593869 228593869 single base substitution C A downstream_gene_variant OV-AU 1 228594485 228594485 single base substitution G C downstream_gene_variant OV-AU 1 228597164 228597164 single base substitution C G downstream_gene_variant OV-AU 1 228597164 228597164 single base substitution C G intron_variant OV-AU 1 228599264 228599264 single base substitution G C downstream_gene_variant OV-AU 1 228599264 228599264 single base substitution G C intron_variant OV-AU 1 228607287 228607287 single base substitution T C upstream_gene_variant OV-US 1 228595964 228595964 single base substitution G T downstream_gene_variant OV-US 1 228595964 228595964 single base substitution G T missense_variant L458M 1372C>A PACA-AU 1 228591954 228591958 deletion of <=200bp CTCCC - downstream_gene_variant PACA-AU 1 228593597 228593597 single base substitution A C downstream_gene_variant PACA-AU 1 228594299 228594299 single base substitution G A downstream_gene_variant PACA-AU 1 228594334 228594334 single base substitution A G downstream_gene_variant PACA-AU 1 228596268 228596268 single base substitution G A downstream_gene_variant PACA-AU 1 228596268 228596268 single base substitution G A synonymous_variant G356G 1068C>T PACA-AU 1 228599465 228599465 single base substitution C T downstream_gene_variant PACA-AU 1 228599465 228599465 single base substitution C T intron_variant PACA-AU 1 228602717 228602717 single base substitution A G intron_variant PACA-AU 1 228602717 228602717 single base substitution A G synonymous_variant C19C 57T>C PACA-AU 1 228603647 228603647 single base substitution C T 5_prime_UTR_variant PACA-AU 1 228603647 228603647 single base substitution C T intron_variant PACA-AU 1 228603957 228603957 single base substitution C A intron_variant PACA-AU 1 228603957 228603957 single base substitution C A upstream_gene_variant PACA-CA 1 228592790 228592790 single base substitution T C downstream_gene_variant PACA-CA 1 228596112 228596112 single base substitution C T downstream_gene_variant PACA-CA 1 228596112 228596112 single base substitution C T synonymous_variant P408P 1224G>A PACA-CA 1 228602547 228602547 single base substitution G A downstream_gene_variant PACA-CA 1 228602547 228602547 single base substitution G A missense_variant P49L 146C>T PACA-CA 1 228602547 228602547 single base substitution G A missense_variant P76L 227C>T PACA-CA 1 228602960 228602960 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 1 228602960 228602960 single base substitution G A intron_variant PACA-CA 1 228606288 228606288 single base substitution G A upstream_gene_variant PACA-CA 1 228606821 228606821 single base substitution A T upstream_gene_variant PACA-CA 1 228607684 228607684 single base substitution C G upstream_gene_variant PAEN-IT 1 228599968 228599968 single base substitution C A downstream_gene_variant PAEN-IT 1 228599968 228599968 single base substitution C A intron_variant PBCA-DE 1 228607445 228607445 insertion of <=200bp - T upstream_gene_variant PRAD-CA 1 228593174 228593174 single base substitution G A downstream_gene_variant PRAD-UK 1 228594488 228594488 single base substitution G A downstream_gene_variant PRAD-UK 1 228600479 228600479 single base substitution C A downstream_gene_variant PRAD-UK 1 228600479 228600479 single base substitution C A intron_variant PRAD-UK 1 228600480 228600480 single base substitution A C downstream_gene_variant PRAD-UK 1 228600480 228600480 single base substitution A C intron_variant RECA-EU 1 228596425 228596425 single base substitution G T 3_prime_UTR_variant RECA-EU 1 228596425 228596425 single base substitution G T downstream_gene_variant RECA-EU 1 228596425 228596425 single base substitution G T missense_variant A304E 911C>A RECA-EU 1 228607587 228607587 single base substitution C T upstream_gene_variant SKCA-BR 1 228591350 228591350 single base substitution G A downstream_gene_variant SKCA-BR 1 228594342 228594342 single base substitution T G downstream_gene_variant SKCA-BR 1 228598361 228598361 single base substitution A C downstream_gene_variant SKCA-BR 1 228598361 228598361 single base substitution A C intron_variant SKCA-BR 1 228604419 228604419 single base substitution A G 5_prime_UTR_variant SKCA-BR 1 228604419 228604419 single base substitution A G upstream_gene_variant SKCA-BR 1 228605156 228605156 single base substitution T G upstream_gene_variant SKCM-US 1 228596250 228596250 single base substitution G A downstream_gene_variant SKCM-US 1 228596250 228596250 single base substitution G A synonymous_variant D362D 1086C>T SKCM-US 1 228596894 228596894 single base substitution C T downstream_gene_variant SKCM-US 1 228596894 228596894 single base substitution C T missense_variant E261K 781G>A SKCM-US 1 228596894 228596894 single base substitution C T missense_variant E288K 862G>A SKCM-US 1 228596903 228596903 single base substitution C T downstream_gene_variant SKCM-US 1 228596903 228596903 single base substitution C T missense_variant G258R 772G>A SKCM-US 1 228596903 228596903 single base substitution C T missense_variant G285R 853G>A STAD-US 1 228596210 228596210 single base substitution G A downstream_gene_variant STAD-US 1 228596210 228596210 single base substitution G A missense_variant R376W 1126C>T STAD-US 1 228596398 228596398 single base substitution C T downstream_gene_variant STAD-US 1 228596398 228596398 single base substitution C T missense_variant S313N 938G>A STAD-US 1 228598740 228598740 single base substitution G A downstream_gene_variant STAD-US 1 228598740 228598740 single base substitution G A synonymous_variant S194S 582C>T STAD-US 1 228598740 228598740 single base substitution G A synonymous_variant S221S 663C>T STAD-US 1 228598776 228598776 single base substitution C T downstream_gene_variant STAD-US 1 228598776 228598776 single base substitution C T synonymous_variant T182T 546G>A STAD-US 1 228598776 228598776 single base substitution C T synonymous_variant T209T 627G>A THCA-SA 1 228602368 228602368 single base substitution C T downstream_gene_variant THCA-SA 1 228602368 228602368 single base substitution C T missense_variant E109K 325G>A THCA-SA 1 228602368 228602368 single base substitution C T missense_variant E136K 406G>A THCA-SA 1 228602660 228602660 single base substitution G C synonymous_variant A11A 33C>G THCA-SA 1 228602660 228602660 single base substitution G C synonymous_variant A38A 114C>G THCA-SA 1 228604248 228604248 single base substitution A G 5_prime_UTR_variant THCA-SA 1 228604248 228604248 single base substitution A G upstream_gene_variant UCEC-US 1 228598740 228598740 single base substitution G A downstream_gene_variant UCEC-US 1 228598740 228598740 single base substitution G A synonymous_variant S194S 582C>T UCEC-US 1 228598740 228598740 single base substitution G A synonymous_variant S221S 663C>T UCEC-US 1 228598869 228598869 single base substitution C T downstream_gene_variant UCEC-US 1 228598869 228598869 single base substitution C T synonymous_variant V151V 453G>A UCEC-US 1 228598869 228598869 single base substitution C T synonymous_variant V178V 534G>A UCEC-US 1 228602418 228602418 single base substitution A G downstream_gene_variant UCEC-US 1 228602418 228602418 single base substitution A G missense_variant V119A 356T>C UCEC-US 1 228602418 228602418 single base substitution A G missense_variant V92A 275T>C UCEC-US 1 228602524 228602524 single base substitution C T downstream_gene_variant UCEC-US 1 228602524 228602524 single base substitution C T missense_variant A57T 169G>A UCEC-US 1 228602524 228602524 single base substitution C T missense_variant A84T 250G>A UCEC-US 1 228602645 228602645 single base substitution G T missense_variant S16R 48C>A UCEC-US 1 228602645 228602645 single base substitution G T missense_variant S43R 129C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand T3535 COSM4735944 c.605G>T p.R202M Substitution - Missense 1:228411097-228411097 - EGC15 COSM5053179 c.1088C>T p.A363V Substitution - Missense 1:228408547-228408547 - H1703 COSM1196626 c.988A>C p.S330R Substitution - Missense 1:228408647-228408647 - TCGA-IR-A3LK-01 COSM4817512 c.1132G>T p.D378Y Substitution - Missense 1:228408503-228408503 - T3306 COSM4735940 c.1345C>T p.P449S Substitution - Missense 1:228408290-228408290 - Pat_45_B COSM5845784 c.50C>T p.S17F Substitution - Missense 1:228415023-228415023 - sysucc-1317T COSM5448450 c.790G>A p.V264M Substitution - Missense 1:228409265-228409265 - T2269 COSM4735948 c.310G>A p.E104K Substitution - Missense 1:228414763-228414763 - 3N32-VS-3T32 COSM4980732 c.774G>A p.L258L Substitution - coding silent 1:228409394-228409394 - TCGA-B5-A11E-01 COSM905186 c.129C>A p.S43R Substitution - Missense 1:228414944-228414944 - TCGA-EE-A3AF-06 COSM3484853 c.862G>A p.E288K Substitution - Missense 1:228409193-228409193 - SNU-175 COSM210249 c.551G>A p.R184H Substitution - Missense 1:228411151-228411151 - TCGA-BR-8487-01 COSM4029277 c.938G>A p.S313N Substitution - Missense 1:228408697-228408697 - DLD1 COSM1997151 c.441G>T p.E147D Substitution - Missense 1:228413881-228413881 - TCGA-13-0726-01 COSM76810 c.1372C>A p.L458M Substitution - Missense 1:228408263-228408263 - TCGA-60-2698-01 COSM679224 c.824C>A p.T275N Substitution - Missense 1:228409231-228409231 - TCGA-29-1777-01 COSM1320412 c.671G>T p.C224F Substitution - Missense 1:228411031-228411031 - T3202 COSM4735941 c.1004T>C p.V335A Substitution - Missense 1:228408631-228408631 - ESO-408 COSM1268512 c.13G>A p.E5K Substitution - Missense 1:228415060-228415060 - TCGA-AZ-4315-01 COSM1339882 c.858G>A p.Q286Q Substitution - coding silent 1:228409197-228409197 - LUAD-D01603 COSM337648 c.291C>T p.D97D Substitution - coding silent 1:228414782-228414782 - T1232 COSM4629298 c.166C>T p.R56W Substitution - Missense 1:228414907-228414907 - HCC101T COSM1601856 c.718G>T p.E240* Substitution - Nonsense 1:228410984-228410984 - TCGA-BH-A18G-01 COSM3804255 c.687T>A p.G229G Substitution - coding silent 1:228411015-228411015 - PD4203a COSM165123 c.1158C>T p.N386N Substitution - coding silent 1:228408477-228408477 - SNUH_G26_S1 COSM3689425 c.261G>A p.A87A Substitution - coding silent 1:228414812-228414812 - TCGA-D8-A1JS-01 COSM1473569 c.868C>G p.L290V Substitution - Missense 1:228409187-228409187 - TCGA-B5-A11R-01 COSM905180 c.534G>A p.V178V Substitution - coding silent 1:228411168-228411168 - HCC101 COSM1601856 c.718G>T p.E240* Substitution - Nonsense 1:228410984-228410984 - SNUH_G26_S1 COSM3677592 c.210G>A p.P70P Substitution - coding silent 1:228414863-228414863 - TCGA-G4-6309-01 COSM1339884 c.542G>A p.R181Q Substitution - Missense 1:228411160-228411160 - I2L-P19Tb-Tumor-Biopsy COSM5353116 c.840G>A p.V280V Substitution - coding silent 1:228409215-228409215 - PS-155-5D COSM4423706 c.1336delG p.A446fs*26 Deletion - Frameshift 1:228408299-228408299 - CHC1534T COSM5348550 c.822_823insA p.T275fs*14 Insertion - Frameshift 1:228409232-228409233 - TCGA-EE-A29L-06 COSM3484855 c.853G>A p.G285R Substitution - Missense 1:228409202-228409202 - PTC_435 COSM5957165 c.406G>A p.E136K Substitution - Missense 1:228414667-228414667 - TCGA-BR-A4IY-01 COSM4029278 c.627G>A p.T209T Substitution - coding silent 1:228411075-228411075 - CHC1137T COSM4803193 c.235C>A p.L79M Substitution - Missense 1:228414838-228414838 - HT115 COSM1997163 c.140C>T p.A47V Substitution - Missense 1:228414933-228414933 - I2L-P19Tb-Tumor-Organoid COSM5353116 c.840G>A p.V280V Substitution - coding silent 1:228409215-228409215 - 61 COSM5068301 c.821_822insC p.T275fs*14 Insertion - Frameshift 1:228409233-228409234 - SMYM-PRGP COSM1997140 c.620T>C p.L207P Substitution - Missense 1:228411082-228411082 - TCGA-CM-6163-01 COSM1339879 c.998G>A p.R333Q Substitution - Missense 1:228408637-228408637 - HCA46 COSM4629298 c.166C>T p.R56W Substitution - Missense 1:228414907-228414907 - HCC2998 COSM4233256 c.1152C>T p.P384P Substitution - coding silent 1:228408483-228408483 - LUAD-D01603 COSM337646 c.353G>A p.C118Y Substitution - Missense 1:228414720-228414720 - TCGA-AM-5821-01 COSM3677592 c.210G>A p.P70P Substitution - coding silent 1:228414863-228414863 - TCGA-D1-A177-01 COSM905178 c.663C>T p.S221S Substitution - coding silent 1:228411039-228411039 - PCSI_0005_Pa_X COSM3377021 c.1224G>A p.P408P Substitution - coding silent 1:228408411-228408411 - RK308_C01 COSM3741089 c.844A>G p.R282G Substitution - Missense 1:228409211-228409211 - S02237 COSM5676374 c.819C>G p.P273P Substitution - coding silent 1:228409236-228409236 - PDA_047 COSM5000554 c.369G>T p.E123D Substitution - Missense 1:228414704-228414704 - ESCC_BICR_041T COSM5441208 c.301G>C p.E101Q Substitution - Missense 1:228414772-228414772 - Pat_11_A COSM5845783 c.1031C>T p.T344M Substitution - Missense 1:228408604-228408604 - TCGA-B5-A11Y-01 COSM905184 c.250G>A p.A84T Substitution - Missense 1:228414823-228414823 - CSCC-7-T COSM4543366 c.336G>A p.K112K Substitution - coding silent 1:228414737-228414737 - K-562 COSM1668541 c.915C>G p.Y305* Substitution - Nonsense 1:228408720-228408720 - Au10 COSM5598895 c.1077C>T p.I359I Substitution - coding silent 1:228408558-228408558 - TCGA-61-1904-01 COSM1320410 c.296G>A p.C99Y Substitution - Missense 1:228414777-228414777 - TCGA-AM-5820-01 COSM3750971 c.114C>G p.A38A Substitution - coding silent 1:228414959-228414959 - CHC1137T COSM4803193 c.235C>A p.L79M Substitution - Missense 1:228414838-228414838 - CSCC-31-T COSM4464604 c.1341C>T p.T447T Substitution - coding silent 1:228408294-228408294 - 8031073 COSM3385870 c.1068C>T p.G356G Substitution - coding silent 1:228408567-228408567 - TCGA-14-0865 COSM2155062 c.507G>T p.Q169H Substitution - Missense 1:228413815-228413815 - SNU-C4 COSM1997140 c.620T>C p.L207P Substitution - Missense 1:228411082-228411082 - ESCC_142 COSM5643649 c.1356G>A p.L452L Substitution - coding silent 1:228408279-228408279 - CHC801T COSM4953334 c.265C>A p.Q89K Substitution - Missense 1:228414808-228414808 - LUAD-F00162 COSM366008 c.680G>A p.R227Q Substitution - Missense 1:228411022-228411022 - TCGA-DA-A1IA-06 COSM3484852 c.1086C>T p.D362D Substitution - coding silent 1:228408549-228408549 - TCGA-14-0865 COSM2154884 c.504G>T p.E168D Substitution - Missense 1:228413818-228413818 - CSCC-56-T COSM4524345 c.1266G>A p.L422L Substitution - coding silent 1:228408369-228408369 - TCGA-AM-5821-01 COSM3689425 c.261G>A p.A87A Substitution - coding silent 1:228414812-228414812 - ESCC_15 COSM5625599 c.158G>A p.R53K Substitution - Missense 1:228414915-228414915 - TCGA-C8-A12O-01 COSM425538 c.1127G>A p.R376Q Substitution - Missense 1:228408508-228408508 - MO_1316 COSM5562764 c.188C>A p.P63H Substitution - Missense 1:228414885-228414885 - TCGA-CD-A4MJ-01 COSM905178 c.663C>T p.S221S Substitution - coding silent 1:228411039-228411039 - LUAD-E00934 COSM403296 c.192G>C p.E64D Substitution - Missense 1:228414881-228414881 - BCB325T COSM4788526 c.1034C>T p.A345V Substitution - Missense 1:228408601-228408601 - CHC801T COSM4953334 c.265C>A p.Q89K Substitution - Missense 1:228414808-228414808 - LS411 COSM1997100 c.1381C>T p.P461S Substitution - Missense 1:228408254-228408254 - B10-Tumor COSM3930673 c.6G>A p.E2E Substitution - coding silent 1:228415067-228415067 - CSCC-44-T COSM4460046 c.1150C>T p.P384S Substitution - Missense 1:228408485-228408485 - ESCC-233T COSM3934542 c.898G>A p.D300N Substitution - Missense 1:228408737-228408737 - 8044436 COSM3385871 c.57T>C p.C19C Substitution - coding silent 1:228415016-228415016 - PS-155-6D COSM4423706 c.1336delG p.A446fs*26 Deletion - Frameshift 1:228408299-228408299 - PS-155-3D COSM4423706 c.1336delG p.A446fs*26 Deletion - Frameshift 1:228408299-228408299 - CSCC-31-T COSM4519898 c.1032G>A p.T344T Substitution - coding silent 1:228408603-228408603 - 1N47-VS-1T47 COSM3689425 c.261G>A p.A87A Substitution - coding silent 1:228414812-228414812 - PT50 COSM5936952 c.1376G>A p.G459E Substitution - Missense 1:228408259-228408259 - LUAD-B02216 COSM335547 c.498G>A p.R166R Substitution - coding silent 1:228413824-228413824 - T469 COSM4735942 c.815C>T p.A272V Substitution - Missense 1:228409240-228409240 - 8069319 COSM3771646 c.397C>T p.L133L Substitution - coding silent 1:228414676-228414676 - LS411 COSM1997128 c.821delC p.P274fs*17 Deletion - Frameshift 1:228409234-228409234 - PCSI_0283_Pa_P_526 COSM4962449 c.227C>T p.P76L Substitution - Missense 1:228414846-228414846 - TCGA-D5-6928-01 COSM1339888 c.146G>A p.G49D Substitution - Missense 1:228414927-228414927 - B23-Tumor COSM1748199 c.407A>T p.E136V Substitution - Missense 1:228414666-228414666 - PD5934a COSM5794096 c.1016G>C p.C339S Substitution - Missense 1:228408619-228408619 - 1N03-VS-1T03 COSM4972574 c.233G>C p.R78P Substitution - Missense 1:228414840-228414840 - TCGA-G4-6628-01 COSM1339886 c.309C>T p.H103H Substitution - coding silent 1:228414764-228414764 - HCT15 COSM1997151 c.441G>T p.E147D Substitution - Missense 1:228413881-228413881 - YUPROST COSM1689938 c.337G>A p.D113N Substitution - Missense 1:228414736-228414736 - TCGA-14-0865 COSM2155064 c.506A>C p.Q169P Substitution - Missense 1:228413816-228413816 - T613 COSM4735946 c.334_336delAAG p.K112delK Deletion - In frame 1:228414737-228414739 - BCB325T COSM4788526 c.1034C>T p.A345V Substitution - Missense 1:228408601-228408601 - TCGA-EK-A2PM-01 COSM4831609 c.499G>A p.E167K Substitution - Missense 1:228413823-228413823 - TCGA-D5-6540-01 COSM1339878 c.1046G>T p.G349V Substitution - Missense 1:228408589-228408589 - TCGA-BH-A0HF-01 COSM3804257 c.477G>A p.R159R Substitution - coding silent 1:228413845-228413845 - GB19 COSM1744610 c.110G>A p.R37Q Substitution - Missense 1:228414963-228414963 - MS3 COSM1165340 c.895C>A p.P299T Substitution - Missense 1:228408740-228408740 - HCT15 COSM1997165 c.113C>T p.A38V Substitution - Missense 1:228414960-228414960 - B23 COSM1748199 c.407A>T p.E136V Substitution - Missense 1:228414666-228414666 - TCGA-CD-8536-01 COSM4029276 c.1126C>T p.R376W Substitution - Missense 1:228408509-228408509 - C0007T COSM4136006 c.911C>A p.A304E Substitution - Missense 1:228408724-228408724 - C004 COSM5521928 c.177C>T p.S59S Substitution - coding silent 1:228414896-228414896 - TCGA-AP-A054-01 COSM905182 c.356T>C p.V119A Substitution - Missense 1:228414717-228414717 - SC_9008 COSM5573945 c.822_823insC p.T275fs*14 Insertion - Frameshift 1:228409232-228409233 - TCGA-DR-A0ZM-01 COSM459557 c.1060G>C p.E354Q Substitution - Missense 1:228408575-228408575 - LUAD-F00057 COSM339391 c.372C>A p.S124S Substitution - coding silent 1:228414701-228414701 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.121735;Hs.121748 1q42 606123

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.V119A c.356T>C 1 228602418 UCEC C A Missense p.R122S c.366G>T 1 228602408 CM C A Missense p.R371M c.1112G>T 1 228596224 STAD C T Missense p.A7T c.19G>A 1 228602755 CM C T Missense p.A84T c.250G>A 1 228602524 UCEC C T Missense p.E288K c.862G>A 1 228596894 CM C T Missense p.E5K c.13G>A 1 228602761 ESCA C T Missense p.G285R c.853G>A 1 228596903 CM C T Missense p.G356D c.1067G>A 1 228596269 LUAD C T Missense p.R376Q c.1127G>A 1 228596209 BRCA C T Synonymous p.V178V c.534G>A 1 228598869 UCEC G A IntronicSNV . c.884-16C>T 1 228596468 STAD G A Synonymous p.D362D c.1086C>T 1 228596250 CM G A Synonymous p.N386N c.1158C>T 1 228596178 BRCA G A Synonymous p.S221S c.663C>T 1 228598740 UCEC G C Missense p.L290V c.868C>G 1 228596888 BRCA G C Missense p.Q392E c.1174C>G 1 228596162 LUAD G T Missense p.L458M c.1372C>A 1 228595964 OV T C Missense p.E324G c.971A>G 1 228596365 HNSC T C Synonymous p.L171L c.513A>G 1 228601510 CM