Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 16 74670456 74670456 + Nonsense_Mutation SNP G G T TCGA-OR-A5JA-01A-11D-A29I-10 TCGA-OR-A5JA-10A-01D-A29L-10 g.chr16:74670456G>T c.1214C>A c.(1213-1215)tCa>tAa p.S405* BLCA 16 74670451 74670451 + Nonsense_Mutation SNP G G A TCGA-4Z-AA86-01A-11D-A391-08 TCGA-4Z-AA86-10A-01D-A394-08 g.chr16:74670451G>A c.1219C>T c.(1219-1221)Caa>Taa p.Q407* BLCA 16 74671790 74671790 + Silent SNP G G A TCGA-K4-AAQO-01A-11D-A38G-08 TCGA-K4-AAQO-10A-01D-A38J-08 g.chr16:74671790G>A c.1158C>T c.(1156-1158)ctC>ctT p.L386L BLCA 16 74678291 74678291 + Missense_Mutation SNP A A C TCGA-BT-A3PJ-01A-21D-A21Z-08 TCGA-BT-A3PJ-10A-01D-A21Z-08 g.chr16:74678291A>C c.1048T>G c.(1048-1050)Ttg>Gtg p.L350V BLCA 16 74678298 74678298 + Silent SNP C C T TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr16:74678298C>T c.1041G>A c.(1039-1041)ctG>ctA p.L347L BLCA 16 74685877 74685877 + Missense_Mutation SNP G G A TCGA-DK-A3IT-01A-31D-A20D-08 TCGA-DK-A3IT-10A-01D-A20D-08 g.chr16:74685877G>A c.662C>T c.(661-663)tCt>tTt p.S221F BLCA 16 74685892 74685892 + Missense_Mutation SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr16:74685892G>C c.647C>G c.(646-648)tCt>tGt p.S216C BLCA 16 74685896 74685896 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr16:74685896C>T c.643G>A c.(643-645)Gat>Aat p.D215N BLCA 16 74685992 74685992 + Nonsense_Mutation SNP G G A TCGA-DK-A1A7-01A-11D-A13W-08 TCGA-DK-A1A7-10A-01D-A13W-08 g.chr16:74685992G>A c.547C>T c.(547-549)Cag>Tag p.Q183* BLCA 16 74695020 74695020 + Missense_Mutation SNP G G A TCGA-ZF-A9R9-01A-11D-A38G-08 TCGA-ZF-A9R9-10A-01D-A38J-08 g.chr16:74695020G>A c.328C>T c.(328-330)Cac>Tac p.H110Y BLCA 16 74695239 74695239 + Nonsense_Mutation SNP G G A TCGA-E5-A2PC-01A-11D-A202-08 TCGA-E5-A2PC-10B-01D-A202-08 g.chr16:74695239G>A c.109C>T c.(109-111)Cag>Tag p.Q37* BRCA 16 74657947 74657947 + Missense_Mutation SNP G G A TCGA-A8-A09Z-01A-11W-A019-09 TCGA-A8-A09Z-10A-01W-A021-09 g.chr16:74657947G>A c.2204C>T c.(2203-2205)tCg>tTg p.S735L BRCA 16 74662504 74662504 + Silent SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr16:74662504A>C c.1815T>G c.(1813-1815)ggT>ggG p.G605G BRCA 16 74670336 74670336 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr16:74670336G>C c.1334C>G c.(1333-1335)tCt>tGt p.S445C BRCA 16 74670451 74670451 + Missense_Mutation SNP G G C TCGA-D8-A1J9-01A-11D-A13L-09 TCGA-D8-A1J9-10A-01D-A13O-09 g.chr16:74670451G>C c.1219C>G c.(1219-1221)Caa>Gaa p.Q407E BRCA 16 74695104 74695104 + Missense_Mutation SNP C C G TCGA-C8-A26Y-01A-11D-A16D-09 TCGA-C8-A26Y-10A-01D-A16D-09 g.chr16:74695104C>G c.244G>C c.(244-246)Gaa>Caa p.E82Q CESC 16 74685965 74685965 + Missense_Mutation SNP G G T TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 g.chr16:74685965G>T c.574C>A c.(574-576)Cca>Aca p.P192T CHOL 16 74670304 74670304 + Missense_Mutation SNP A A C TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr16:74670304A>C c.1366T>G c.(1366-1368)Tgt>Ggt p.C456G CHOL 16 74685875 74685875 + Missense_Mutation SNP C C T TCGA-YR-A95A-01A-12D-A417-09 TCGA-YR-A95A-10A-01D-A41A-09 g.chr16:74685875C>T c.664G>A c.(664-666)Gca>Aca p.A222T COAD 16 74660349 74660349 + Frame_Shift_Del DEL A A - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr16:74660349delA c.2073delT c.(2071-2073)tttfs p.F691fs COAD 16 74662417 74662417 + Silent SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr16:74662417C>T c.1902G>A c.(1900-1902)gaG>gaA p.E634E COAD 16 74662492 74662492 + Silent SNP A A G TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr16:74662492A>G c.1827T>C c.(1825-1827)gcT>gcC p.A609A COAD 16 74671831 74671831 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr16:74671831C>T c.1117G>A c.(1117-1119)Gag>Aag p.E373K COAD 16 74678503 74678503 + Missense_Mutation SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr16:74678503C>A c.923G>T c.(922-924)gGg>gTg p.G308V COAD 16 74695154 74695154 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr16:74695154G>A c.194C>T c.(193-195)gCg>gTg p.A65V COAD 16 74695187 74695187 + Missense_Mutation SNP T T C TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr16:74695187T>C c.161A>G c.(160-162)cAg>cGg p.Q54R COADREAD 16 74660349 74660349 + Frame_Shift_Del DEL A A - TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr16:74660349delA c.2073delT c.(2071-2073)tttfs p.F691fs COADREAD 16 74662417 74662417 + Silent SNP C C T TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr16:74662417C>T c.1902G>A c.(1900-1902)gaG>gaA p.E634E COADREAD 16 74662492 74662492 + Silent SNP A A G TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr16:74662492A>G c.1827T>C c.(1825-1827)gcT>gcC p.A609A COADREAD 16 74671831 74671831 + Missense_Mutation SNP C C T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr16:74671831C>T c.1117G>A c.(1117-1119)Gag>Aag p.E373K COADREAD 16 74678503 74678503 + Missense_Mutation SNP C C A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr16:74678503C>A c.923G>T c.(922-924)gGg>gTg p.G308V COADREAD 16 74695154 74695154 + Missense_Mutation SNP G G A TCGA-AD-5900-01A-11D-1650-10 TCGA-AD-5900-10A-01D-1650-10 g.chr16:74695154G>A c.194C>T c.(193-195)gCg>gTg p.A65V COADREAD 16 74695187 74695187 + Missense_Mutation SNP T T C TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr16:74695187T>C c.161A>G c.(160-162)cAg>cGg p.Q54R DLBC 16 74664698 74664698 + Silent SNP A A G TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr16:74664698A>G c.1735T>C c.(1735-1737)Tta>Cta p.L579L DLBC 16 74664698 74664698 + Silent SNP A A G TCGA-GR-7353-01A-11D-2210-10 TCGA-GR-7353-10A-01D-2210-10 g.chr16:74664698A>G c.1735T>C c.(1735-1737)Tta>Cta p.L579L ESCA 16 74662409 74662409 + Frame_Shift_Del DEL C C - TCGA-Q9-A6FU-01A-11D-A31U-09 TCGA-Q9-A6FU-10A-01D-A31U-09 g.chr16:74662409delC c.1910delG c.(1909-1911)ggcfs p.G637fs ESCA 16 74670448 74670448 + Missense_Mutation SNP T T C TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr16:74670448T>C c.1222A>G c.(1222-1224)Agt>Ggt p.S408G GBMLGG 16 74678318 74678318 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:74678318C>T c.1021G>A c.(1021-1023)Gtc>Atc p.V341I GBMLGG 16 74695259 74695259 + Missense_Mutation SNP T T C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 g.chr16:74695259T>C c.89A>G c.(88-90)cAa>cGa p.Q30R HNSC 16 74660297 74660297 + Missense_Mutation SNP C C T TCGA-BB-4223-01A-01D-1434-08 TCGA-BB-4223-10A-01D-1434-08 g.chr16:74660297C>T c.2125G>A c.(2125-2127)Gag>Aag p.E709K HNSC 16 74678452 74678452 + Missense_Mutation SNP C C A TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr16:74678452C>A c.974G>T c.(973-975)cGa>cTa p.R325L HNSC 16 74678518 74678518 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 g.chr16:74678518G>A c.908C>T c.(907-909)tCa>tTa p.S303L HNSC 16 74683082 74683082 + Missense_Mutation SNP G G A TCGA-CV-A45Q-01A-11D-A24D-08 TCGA-CV-A45Q-10A-01D-A24F-08 g.chr16:74683082G>A c.740C>T c.(739-741)tCa>tTa p.S247L HNSC 16 74685845 74685845 + Missense_Mutation SNP C C G TCGA-CV-A6K1-01A-11D-A31L-08 TCGA-CV-A6K1-10A-01D-A31J-08 g.chr16:74685845C>G c.694G>C c.(694-696)Gag>Cag p.E232Q HNSC 16 74695112 74695112 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr16:74695112T>C c.236A>G c.(235-237)gAc>gGc p.D79G HNSC 16 74695292 74695292 + Missense_Mutation SNP T T A TCGA-CV-6948-01A-11D-1912-08 TCGA-CV-6948-10A-01D-1912-08 g.chr16:74695292T>A c.56A>T c.(55-57)cAa>cTa p.Q19L LGG 16 74678318 74678318 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:74678318C>T c.1021G>A c.(1021-1023)Gtc>Atc p.V341I LGG 16 74695259 74695259 + Missense_Mutation SNP T T C TCGA-S9-A6WH-01A-12D-A33T-08 TCGA-S9-A6WH-10A-01D-A33W-08 g.chr16:74695259T>C c.89A>G c.(88-90)cAa>cGa p.Q30R LIHC 16 74660446 74660446 + Missense_Mutation SNP T T C TCGA-G3-AAV7-01A-11D-A382-10 TCGA-G3-AAV7-10A-01D-A385-10 g.chr16:74660446T>C c.1976A>G c.(1975-1977)aAt>aGt p.N659S LIHC 16 74678544 74678544 + Nonsense_Mutation SNP C C T TCGA-DD-AAD2-01A-11D-A40R-10 TCGA-DD-AAD2-10A-01D-A40U-10 g.chr16:74678544C>T c.882G>A c.(880-882)tgG>tgA p.W294* LIHC 16 74678605 74678605 + Missense_Mutation SNP A A G TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr16:74678605A>G c.821T>C c.(820-822)cTa>cCa p.L274P LIHC 16 74694849 74694849 + Nonsense_Mutation SNP G G A TCGA-ES-A2HS-01A-11D-A183-10 TCGA-ES-A2HS-11A-11D-A183-10 g.chr16:74694849G>A c.499C>T c.(499-501)Cag>Tag p.Q167* LUAD 16 74657875 74657875 + Missense_Mutation SNP T T A TCGA-62-A46P-01A-11D-A24D-08 TCGA-62-A46P-10A-01D-A24F-08 g.chr16:74657875T>A c.2276A>T c.(2275-2277)tAc>tTc p.Y759F LUAD 16 74657964 74657964 + Missense_Mutation SNP C C A TCGA-62-A46P-01A-11D-A24D-08 TCGA-62-A46P-10A-01D-A24F-08 g.chr16:74657964C>A c.2187G>T c.(2185-2187)tgG>tgT p.W729C LUAD 16 74660379 74660379 + Silent SNP G G A TCGA-J2-A4AG-01A-11D-A24D-08 TCGA-J2-A4AG-10A-01D-A24F-08 g.chr16:74660379G>A c.2043C>T c.(2041-2043)atC>atT p.I681I LUAD 16 74662385 74662385 + Missense_Mutation SNP T T A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr16:74662385T>A c.1934A>T c.(1933-1935)aAc>aTc p.N645I LUAD 16 74662537 74662537 + Missense_Mutation SNP C C T TCGA-05-4382-01A-01D-1931-08 TCGA-05-4382-10A-01D-1265-08 g.chr16:74662537C>T c.1782G>A c.(1780-1782)atG>atA p.M594I LUAD 16 74666542 74666542 + Missense_Mutation SNP T T A TCGA-78-8640-01A-11D-2393-08 TCGA-78-8640-11A-01D-2393-08 g.chr16:74666542T>A c.1456A>T c.(1456-1458)Aac>Tac p.N486Y LUAD 16 74678502 74678502 + Frame_Shift_Del DEL C C - TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr16:74678502delC c.924delG c.(922-924)gggfs p.G308fs LUAD 16 74685929 74685929 + Missense_Mutation SNP C C A TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 g.chr16:74685929C>A c.610G>T c.(610-612)Gta>Tta p.V204L LUAD 16 74695173 74695173 + Missense_Mutation SNP C C T TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr16:74695173C>T c.175G>A c.(175-177)Gag>Aag p.E59K LUSC 16 74666541 74666541 + Missense_Mutation SNP T T C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 g.chr16:74666541T>C c.1457A>G c.(1456-1458)aAc>aGc p.N486S LUSC 16 74670477 74670477 + Splice_Site SNP T T G TCGA-56-6545-01A-11D-1817-08 TCGA-56-6545-10A-01D-1817-08 g.chr16:74670477T>G c.e8-2 LUSC 16 74678506 74678506 + Missense_Mutation SNP C C A TCGA-66-2756-01A-01D-1522-08 TCGA-66-2756-11A-01D-1522-08 g.chr16:74678506C>A c.920G>T c.(919-921)tGt>tTt p.C307F PAAD 16 74678318 74678318 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:74678318C>T c.1021G>A c.(1021-1023)Gtc>Atc p.V341I PCPG 16 74695298 74695298 + Missense_Mutation SNP G G A TCGA-WB-A81R-01A-11D-A35I-08 TCGA-WB-A81R-10A-01D-A35G-08 g.chr16:74695298G>A c.50C>T c.(49-51)gCc>gTc p.A17V PRAD 16 74670338 74670338 + Silent SNP T T C TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 g.chr16:74670338T>C c.1332A>G c.(1330-1332)gtA>gtG p.V444V SARC 16 74662523 74662523 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chr16:74662523G>A c.1796C>T c.(1795-1797)tCa>tTa p.S599L SARC 16 74662525 74662525 + Silent SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chr16:74662525G>A c.1794C>T c.(1792-1794)gcC>gcT p.A598A SKCM 16 74662525 74662525 + Silent SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:74662525G>A c.1794C>T c.(1792-1794)gcC>gcT p.A598A SKCM 16 74670390 74670390 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr16:74670390G>A c.1280C>T c.(1279-1281)tCc>tTc p.S427F SKCM 16 74685906 74685906 + Silent SNP A A G TCGA-FS-A1YW-06A-11D-A197-08 TCGA-FS-A1YW-10A-01D-A199-08 g.chr16:74685906A>G c.633T>C c.(631-633)tcT>tcC p.S211S SKCM 16 74694866 74694866 + Missense_Mutation SNP G G A TCGA-D9-A6E9-06A-12D-A30X-08 TCGA-D9-A6E9-10A-01D-A30X-08 g.chr16:74694866G>A c.482C>T c.(481-483)gCa>gTa p.A161V SKCM 16 74695200 74695200 + Missense_Mutation SNP G G A TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr16:74695200G>A c.148C>T c.(148-150)Cca>Tca p.P50S SKCM 16 74695298 74695298 + Missense_Mutation SNP G G A TCGA-QB-A6FS-06A-11D-A30X-08 TCGA-QB-A6FS-10A-01D-A30X-08 g.chr16:74695298G>A c.50C>T c.(49-51)gCc>gTc p.A17V

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 16 74678291 74678291 single base substitution A C downstream_gene_variant BLCA-US 16 74678291 74678291 single base substitution A C exon_variant BLCA-US 16 74678291 74678291 single base substitution A C missense_variant L350V 1048T>G BLCA-US 16 74685877 74685877 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 16 74685877 74685877 single base substitution G A missense_variant S221F 662C>T BLCA-US 16 74685877 74685877 single base substitution G A upstream_gene_variant BLCA-US 16 74685896 74685896 single base substitution C T 5_prime_UTR_variant BLCA-US 16 74685896 74685896 single base substitution C T missense_variant D215N 643G>A BLCA-US 16 74685896 74685896 single base substitution C T upstream_gene_variant BLCA-US 16 74685992 74685992 single base substitution G A 5_prime_UTR_variant BLCA-US 16 74685992 74685992 single base substitution G A stop_gained Q183* 547C>T BLCA-US 16 74685992 74685992 single base substitution G A upstream_gene_variant BLCA-US 16 74695239 74695239 single base substitution G A downstream_gene_variant BLCA-US 16 74695239 74695239 single base substitution G A exon_variant BLCA-US 16 74695239 74695239 single base substitution G A intron_variant BLCA-US 16 74695239 74695239 single base substitution G A stop_gained Q37* 109C>T BRCA-EU 16 74652577 74652577 single base substitution G C downstream_gene_variant BRCA-EU 16 74652779 74652779 single base substitution G A downstream_gene_variant BRCA-EU 16 74652845 74652845 single base substitution C T downstream_gene_variant BRCA-EU 16 74653251 74653251 single base substitution G A downstream_gene_variant BRCA-EU 16 74653940 74653940 single base substitution G C downstream_gene_variant BRCA-EU 16 74654120 74654122 deletion of <=200bp GAA - downstream_gene_variant BRCA-EU 16 74654306 74654306 single base substitution C T downstream_gene_variant BRCA-EU 16 74654825 74654825 single base substitution G A downstream_gene_variant BRCA-EU 16 74655344 74655344 single base substitution G T 3_prime_UTR_variant BRCA-EU 16 74655344 74655344 single base substitution G T downstream_gene_variant BRCA-EU 16 74655726 74655726 single base substitution G A 3_prime_UTR_variant BRCA-EU 16 74655726 74655726 single base substitution G A downstream_gene_variant BRCA-EU 16 74656385 74656385 single base substitution T C 3_prime_UTR_variant BRCA-EU 16 74656385 74656385 single base substitution T C downstream_gene_variant BRCA-EU 16 74657131 74657131 single base substitution C A 3_prime_UTR_variant BRCA-EU 16 74657131 74657131 single base substitution C A downstream_gene_variant BRCA-EU 16 74658717 74658717 single base substitution G C downstream_gene_variant BRCA-EU 16 74658717 74658717 single base substitution G C intron_variant BRCA-EU 16 74659257 74659257 insertion of <=200bp - A downstream_gene_variant BRCA-EU 16 74659257 74659257 insertion of <=200bp - A intron_variant BRCA-EU 16 74663040 74663040 single base substitution T G intron_variant BRCA-EU 16 74663693 74663693 single base substitution C T intron_variant BRCA-EU 16 74664825 74664825 single base substitution A G exon_variant BRCA-EU 16 74664825 74664825 single base substitution A G synonymous_variant Y536Y 1608T>C BRCA-EU 16 74666346 74666346 single base substitution C G intron_variant BRCA-EU 16 74667198 74667198 deletion of <=200bp A - downstream_gene_variant BRCA-EU 16 74667198 74667198 deletion of <=200bp A - intron_variant BRCA-EU 16 74667198 74667198 deletion of <=200bp A - upstream_gene_variant BRCA-EU 16 74667999 74667999 single base substitution C G downstream_gene_variant BRCA-EU 16 74667999 74667999 single base substitution C G intron_variant BRCA-EU 16 74667999 74667999 single base substitution C G upstream_gene_variant BRCA-EU 16 74669132 74669132 single base substitution G C downstream_gene_variant BRCA-EU 16 74669132 74669132 single base substitution G C intron_variant BRCA-EU 16 74669132 74669132 single base substitution G C upstream_gene_variant BRCA-EU 16 74670756 74670756 single base substitution C G downstream_gene_variant BRCA-EU 16 74670756 74670756 single base substitution C G intron_variant BRCA-EU 16 74670756 74670756 single base substitution C G upstream_gene_variant BRCA-EU 16 74673205 74673205 single base substitution G C downstream_gene_variant BRCA-EU 16 74673205 74673205 single base substitution G C intron_variant BRCA-EU 16 74674550 74674550 insertion of <=200bp - T downstream_gene_variant BRCA-EU 16 74674550 74674550 insertion of <=200bp - T intron_variant BRCA-EU 16 74674884 74674884 deletion of <=200bp T - downstream_gene_variant BRCA-EU 16 74674884 74674884 deletion of <=200bp T - intron_variant BRCA-EU 16 74676764 74676764 single base substitution C T downstream_gene_variant BRCA-EU 16 74676764 74676764 single base substitution C T intron_variant BRCA-EU 16 74677229 74677229 single base substitution A G downstream_gene_variant BRCA-EU 16 74677229 74677229 single base substitution A G intron_variant BRCA-EU 16 74677675 74677675 single base substitution G A downstream_gene_variant BRCA-EU 16 74677675 74677675 single base substitution G A intron_variant BRCA-EU 16 74679126 74679126 single base substitution T C intron_variant BRCA-EU 16 74679126 74679126 single base substitution T C upstream_gene_variant BRCA-EU 16 74680207 74680207 single base substitution G A intron_variant BRCA-EU 16 74680207 74680207 single base substitution G A upstream_gene_variant BRCA-EU 16 74680621 74680621 single base substitution G C intron_variant BRCA-EU 16 74680621 74680621 single base substitution G C upstream_gene_variant BRCA-EU 16 74682660 74682660 single base substitution G C intron_variant BRCA-EU 16 74682660 74682660 single base substitution G C upstream_gene_variant BRCA-EU 16 74682818 74682824 deletion of <=200bp AAAAAAT - intron_variant BRCA-EU 16 74682818 74682824 deletion of <=200bp AAAAAAT - upstream_gene_variant BRCA-EU 16 74687549 74687549 deletion of <=200bp A - intron_variant BRCA-EU 16 74687549 74687549 deletion of <=200bp A - upstream_gene_variant BRCA-EU 16 74692177 74692177 single base substitution G A downstream_gene_variant BRCA-EU 16 74692177 74692177 single base substitution G A intron_variant BRCA-EU 16 74697656 74697656 single base substitution A G downstream_gene_variant BRCA-EU 16 74697656 74697656 single base substitution A G intron_variant BRCA-EU 16 74700812 74700812 single base substitution G C upstream_gene_variant BRCA-EU 16 74700864 74700864 single base substitution C A upstream_gene_variant BRCA-EU 16 74701370 74701370 single base substitution G A upstream_gene_variant BRCA-EU 16 74702285 74702285 single base substitution A C upstream_gene_variant BRCA-EU 16 74703196 74703196 single base substitution C G upstream_gene_variant BRCA-EU 16 74703770 74703770 single base substitution A C upstream_gene_variant BRCA-EU 16 74705114 74705114 single base substitution C A upstream_gene_variant BRCA-EU 16 74705698 74705698 single base substitution G A upstream_gene_variant BRCA-FR 16 74652577 74652577 single base substitution G C downstream_gene_variant BRCA-FR 16 74653940 74653940 single base substitution G C downstream_gene_variant BRCA-FR 16 74654825 74654825 single base substitution G A downstream_gene_variant BRCA-FR 16 74663508 74663508 single base substitution G A intron_variant BRCA-FR 16 74677504 74677504 single base substitution C G downstream_gene_variant BRCA-FR 16 74677504 74677504 single base substitution C G intron_variant BRCA-FR 16 74703196 74703196 single base substitution C G upstream_gene_variant BRCA-FR 16 74704103 74704103 single base substitution G A upstream_gene_variant BRCA-FR 16 74705698 74705698 single base substitution G A upstream_gene_variant BRCA-UK 16 74657131 74657131 single base substitution C A 3_prime_UTR_variant BRCA-UK 16 74657131 74657131 single base substitution C A downstream_gene_variant BRCA-UK 16 74670262 74670262 single base substitution G A downstream_gene_variant BRCA-UK 16 74670262 74670262 single base substitution G A stop_gained Q470* 1408C>T BRCA-UK 16 74670262 74670262 single base substitution G A upstream_gene_variant BRCA-UK 16 74674478 74674478 single base substitution G C downstream_gene_variant BRCA-UK 16 74674478 74674478 single base substitution G C intron_variant BRCA-UK 16 74674738 74674738 single base substitution G C downstream_gene_variant BRCA-UK 16 74674738 74674738 single base substitution G C intron_variant BRCA-US 16 74657947 74657947 single base substitution G A downstream_gene_variant BRCA-US 16 74657947 74657947 single base substitution G A missense_variant S735L 2204C>T BRCA-US 16 74662504 74662504 single base substitution A C exon_variant BRCA-US 16 74662504 74662504 single base substitution A C synonymous_variant G605G 1815T>G BRCA-US 16 74670336 74670336 single base substitution G C downstream_gene_variant BRCA-US 16 74670336 74670336 single base substitution G C missense_variant S445C 1334C>G BRCA-US 16 74670336 74670336 single base substitution G C upstream_gene_variant BRCA-US 16 74670451 74670451 single base substitution G C downstream_gene_variant BRCA-US 16 74670451 74670451 single base substitution G C missense_variant Q407E 1219C>G BRCA-US 16 74670451 74670451 single base substitution G C upstream_gene_variant BRCA-US 16 74695104 74695104 single base substitution C G downstream_gene_variant BRCA-US 16 74695104 74695104 single base substitution C G exon_variant BRCA-US 16 74695104 74695104 single base substitution C G intron_variant BRCA-US 16 74695104 74695104 single base substitution C G missense_variant E82Q 244G>C BTCA-JP 16 74660174 74660174 single base substitution G A downstream_gene_variant BTCA-JP 16 74660174 74660174 single base substitution G A intron_variant BTCA-JP 16 74671764 74671764 single base substitution C A downstream_gene_variant BTCA-JP 16 74671764 74671764 single base substitution C A missense_variant R395M 1184G>T BTCA-JP 16 74694859 74694859 single base substitution G A downstream_gene_variant BTCA-JP 16 74694859 74694859 single base substitution G A exon_variant BTCA-JP 16 74694859 74694859 single base substitution G A intron_variant BTCA-JP 16 74694859 74694859 single base substitution G A synonymous_variant A163A 489C>T CESC-US 16 74685965 74685965 single base substitution G T 5_prime_UTR_variant CESC-US 16 74685965 74685965 single base substitution G T missense_variant P192T 574C>A CESC-US 16 74685965 74685965 single base substitution G T upstream_gene_variant CLLE-ES 16 74654895 74654895 single base substitution A G downstream_gene_variant CLLE-ES 16 74661092 74661092 single base substitution T C downstream_gene_variant CLLE-ES 16 74661092 74661092 single base substitution T C intron_variant CLLE-ES 16 74689127 74689127 single base substitution T C intron_variant CLLE-ES 16 74704730 74704730 single base substitution C T upstream_gene_variant COAD-US 16 74660349 74660349 deletion of <=200bp A - downstream_gene_variant COAD-US 16 74660349 74660349 deletion of <=200bp A - frameshift_variant F691 COAD-US 16 74662492 74662492 single base substitution A G exon_variant COAD-US 16 74662492 74662492 single base substitution A G synonymous_variant A609A 1827T>C COAD-US 16 74678503 74678503 single base substitution C A downstream_gene_variant COAD-US 16 74678503 74678503 single base substitution C A exon_variant COAD-US 16 74678503 74678503 single base substitution C A missense_variant G308V 923G>T COAD-US 16 74695154 74695154 single base substitution G A downstream_gene_variant COAD-US 16 74695154 74695154 single base substitution G A exon_variant COAD-US 16 74695154 74695154 single base substitution G A intron_variant COAD-US 16 74695154 74695154 single base substitution G A missense_variant A65V 194C>T COCA-CN 16 74657824 74657824 single base substitution A G 3_prime_UTR_variant COCA-CN 16 74657824 74657824 single base substitution A G downstream_gene_variant COCA-CN 16 74660404 74660404 single base substitution C T downstream_gene_variant COCA-CN 16 74660404 74660404 single base substitution C T missense_variant R673Q 2018G>A COCA-CN 16 74660431 74660431 single base substitution C T downstream_gene_variant COCA-CN 16 74660431 74660431 single base substitution C T missense_variant R664Q 1991G>A COCA-CN 16 74664969 74664969 single base substitution T A intron_variant COCA-CN 16 74666634 74666634 single base substitution G C intron_variant COCA-CN 16 74666634 74666634 single base substitution G C upstream_gene_variant COCA-CN 16 74666642 74666642 single base substitution A G intron_variant COCA-CN 16 74666642 74666642 single base substitution A G upstream_gene_variant COCA-CN 16 74668459 74668459 single base substitution A T downstream_gene_variant COCA-CN 16 74668459 74668459 single base substitution A T intron_variant COCA-CN 16 74668459 74668459 single base substitution A T upstream_gene_variant COCA-CN 16 74694787 74694787 single base substitution C A downstream_gene_variant COCA-CN 16 74694787 74694787 single base substitution C A exon_variant COCA-CN 16 74694787 74694787 single base substitution C A intron_variant COCA-CN 16 74701595 74701595 single base substitution G A upstream_gene_variant EOPC-DE 16 74664810 74664810 single base substitution A T exon_variant EOPC-DE 16 74664810 74664810 single base substitution A T synonymous_variant P541P 1623T>A ESAD-UK 16 74652099 74652099 single base substitution C G downstream_gene_variant ESAD-UK 16 74656376 74656376 single base substitution A G 3_prime_UTR_variant ESAD-UK 16 74656376 74656376 single base substitution A G downstream_gene_variant ESAD-UK 16 74657187 74657187 single base substitution C T 3_prime_UTR_variant ESAD-UK 16 74657187 74657187 single base substitution C T downstream_gene_variant ESAD-UK 16 74662155 74662155 single base substitution A C downstream_gene_variant ESAD-UK 16 74662155 74662155 single base substitution A C intron_variant ESAD-UK 16 74664206 74664206 single base substitution C A intron_variant ESAD-UK 16 74665566 74665566 single base substitution G A intron_variant ESAD-UK 16 74668700 74668700 single base substitution G C downstream_gene_variant ESAD-UK 16 74668700 74668700 single base substitution G C intron_variant ESAD-UK 16 74668700 74668700 single base substitution G C upstream_gene_variant ESAD-UK 16 74669130 74669130 single base substitution G C downstream_gene_variant ESAD-UK 16 74669130 74669130 single base substitution G C intron_variant ESAD-UK 16 74669130 74669130 single base substitution G C upstream_gene_variant ESAD-UK 16 74669204 74669204 single base substitution T A downstream_gene_variant ESAD-UK 16 74669204 74669204 single base substitution T A intron_variant ESAD-UK 16 74669204 74669204 single base substitution T A upstream_gene_variant ESAD-UK 16 74671083 74671083 single base substitution G C downstream_gene_variant ESAD-UK 16 74671083 74671083 single base substitution G C intron_variant ESAD-UK 16 74671083 74671083 single base substitution G C upstream_gene_variant ESAD-UK 16 74672676 74672676 single base substitution T A intron_variant ESAD-UK 16 74672677 74672677 single base substitution A G intron_variant ESAD-UK 16 74673054 74673054 single base substitution G A downstream_gene_variant ESAD-UK 16 74673054 74673054 single base substitution G A intron_variant ESAD-UK 16 74673615 74673615 deletion of <=200bp A - downstream_gene_variant ESAD-UK 16 74673615 74673615 deletion of <=200bp A - intron_variant ESAD-UK 16 74674872 74674872 single base substitution A G downstream_gene_variant ESAD-UK 16 74674872 74674872 single base substitution A G intron_variant ESAD-UK 16 74681969 74681969 single base substitution A G intron_variant ESAD-UK 16 74681969 74681969 single base substitution A G upstream_gene_variant ESAD-UK 16 74683014 74683014 single base substitution A G intron_variant ESAD-UK 16 74683014 74683014 single base substitution A G upstream_gene_variant ESAD-UK 16 74688576 74688576 single base substitution G A intron_variant ESAD-UK 16 74690773 74690773 single base substitution G A downstream_gene_variant ESAD-UK 16 74690773 74690773 single base substitution G A intron_variant ESAD-UK 16 74691199 74691199 single base substitution C T downstream_gene_variant ESAD-UK 16 74691199 74691199 single base substitution C T intron_variant ESAD-UK 16 74691880 74691880 single base substitution A T downstream_gene_variant ESAD-UK 16 74691880 74691880 single base substitution A T intron_variant ESAD-UK 16 74693089 74693089 single base substitution C T downstream_gene_variant ESAD-UK 16 74693089 74693089 single base substitution C T intron_variant ESAD-UK 16 74693614 74693614 single base substitution C A downstream_gene_variant ESAD-UK 16 74693614 74693614 single base substitution C A intron_variant ESAD-UK 16 74699999 74699999 single base substitution G A intron_variant ESAD-UK 16 74703966 74703966 single base substitution A C upstream_gene_variant ESCA-CN 16 74694692 74694692 single base substitution T C downstream_gene_variant ESCA-CN 16 74694692 74694692 single base substitution T C exon_variant ESCA-CN 16 74694692 74694692 single base substitution T C intron_variant ESCA-CN 16 74695038 74695038 single base substitution G A downstream_gene_variant ESCA-CN 16 74695038 74695038 single base substitution G A exon_variant ESCA-CN 16 74695038 74695038 single base substitution G A intron_variant ESCA-CN 16 74695038 74695038 single base substitution G A stop_gained Q104* 310C>T LAML-KR 16 74679651 74679651 single base substitution T C intron_variant LAML-KR 16 74679651 74679651 single base substitution T C upstream_gene_variant LICA-FR 16 74652921 74652921 deletion of <=200bp A - downstream_gene_variant LICA-FR 16 74663663 74663663 single base substitution C T intron_variant LICA-FR 16 74671044 74671044 single base substitution C A downstream_gene_variant LICA-FR 16 74671044 74671044 single base substitution C A intron_variant LICA-FR 16 74671044 74671044 single base substitution C A upstream_gene_variant LICA-FR 16 74680484 74680484 single base substitution G A intron_variant LICA-FR 16 74680484 74680484 single base substitution G A upstream_gene_variant LICA-FR 16 74680679 74680679 single base substitution A G intron_variant LICA-FR 16 74680679 74680679 single base substitution A G upstream_gene_variant LICA-FR 16 74680691 74680691 single base substitution C T intron_variant LICA-FR 16 74680691 74680691 single base substitution C T upstream_gene_variant LICA-FR 16 74689305 74689305 deletion of <=200bp T - intron_variant LINC-JP 16 74650817 74650817 single base substitution A T downstream_gene_variant LINC-JP 16 74652345 74652345 single base substitution A C downstream_gene_variant LINC-JP 16 74663564 74663564 deletion of <=200bp A - intron_variant LINC-JP 16 74664712 74664754 deletion of <=200bp CTGCTCGTGTTTCGCACGTCATATACCAGAATTGAACCATTGG - exon_variant LINC-JP 16 74664712 74664754 deletion of <=200bp CTGCTCGTGTTTCGCACGTCATATACCAGAATTGAACCATTGG - frameshift_variant ANGSILVYDVRNTSS560 LINC-JP 16 74673391 74673391 single base substitution T C downstream_gene_variant LINC-JP 16 74673391 74673391 single base substitution T C intron_variant LINC-JP 16 74678729 74678729 single base substitution A T intron_variant LINC-JP 16 74678729 74678729 single base substitution A T upstream_gene_variant LINC-JP 16 74692499 74692499 single base substitution C T downstream_gene_variant LINC-JP 16 74692499 74692499 single base substitution C T intron_variant LINC-JP 16 74694845 74694845 single base substitution C T downstream_gene_variant LINC-JP 16 74694845 74694845 single base substitution C T exon_variant LINC-JP 16 74694845 74694845 single base substitution C T intron_variant LINC-JP 16 74694845 74694845 single base substitution C T missense_variant R168K 503G>A LINC-JP 16 74694948 74694948 single base substitution G C downstream_gene_variant LINC-JP 16 74694948 74694948 single base substitution G C exon_variant LINC-JP 16 74694948 74694948 single base substitution G C intron_variant LINC-JP 16 74694948 74694948 single base substitution G C missense_variant L134V 400C>G LINC-JP 16 74695304 74695304 single base substitution T C downstream_gene_variant LINC-JP 16 74695304 74695304 single base substitution T C exon_variant LINC-JP 16 74695304 74695304 single base substitution T C intron_variant LINC-JP 16 74695304 74695304 single base substitution T C missense_variant N15S 44A>G LIRI-JP 16 74653082 74653082 single base substitution T C downstream_gene_variant LIRI-JP 16 74656438 74656438 single base substitution T C 3_prime_UTR_variant LIRI-JP 16 74656438 74656438 single base substitution T C downstream_gene_variant LIRI-JP 16 74658667 74658667 single base substitution G A downstream_gene_variant LIRI-JP 16 74658667 74658667 single base substitution G A intron_variant LIRI-JP 16 74660270 74660270 single base substitution T C downstream_gene_variant LIRI-JP 16 74660270 74660270 single base substitution T C missense_variant T718A 2152A>G LIRI-JP 16 74662597 74662597 single base substitution C T intron_variant LIRI-JP 16 74663786 74663786 single base substitution A T intron_variant LIRI-JP 16 74667273 74667273 single base substitution C A downstream_gene_variant LIRI-JP 16 74667273 74667273 single base substitution C A intron_variant LIRI-JP 16 74667273 74667273 single base substitution C A upstream_gene_variant LIRI-JP 16 74669247 74669247 single base substitution C A downstream_gene_variant LIRI-JP 16 74669247 74669247 single base substitution C A intron_variant LIRI-JP 16 74669247 74669247 single base substitution C A upstream_gene_variant LIRI-JP 16 74669341 74669341 single base substitution C T downstream_gene_variant LIRI-JP 16 74669341 74669341 single base substitution C T intron_variant LIRI-JP 16 74669341 74669341 single base substitution C T upstream_gene_variant LIRI-JP 16 74670575 74670575 single base substitution T C downstream_gene_variant LIRI-JP 16 74670575 74670575 single base substitution T C intron_variant LIRI-JP 16 74670575 74670575 single base substitution T C upstream_gene_variant LIRI-JP 16 74670617 74670617 single base substitution T C downstream_gene_variant LIRI-JP 16 74670617 74670617 single base substitution T C intron_variant LIRI-JP 16 74670617 74670617 single base substitution T C upstream_gene_variant LIRI-JP 16 74673332 74673332 single base substitution A T downstream_gene_variant LIRI-JP 16 74673332 74673332 single base substitution A T intron_variant LIRI-JP 16 74677385 74677385 single base substitution T C downstream_gene_variant LIRI-JP 16 74677385 74677385 single base substitution T C intron_variant LIRI-JP 16 74678107 74678107 single base substitution T C downstream_gene_variant LIRI-JP 16 74678107 74678107 single base substitution T C exon_variant LIRI-JP 16 74678107 74678107 single base substitution T C intron_variant LIRI-JP 16 74681328 74681328 single base substitution G A intron_variant LIRI-JP 16 74681328 74681328 single base substitution G A upstream_gene_variant LIRI-JP 16 74683243 74683243 single base substitution T C intron_variant LIRI-JP 16 74683243 74683243 single base substitution T C upstream_gene_variant LIRI-JP 16 74685055 74685055 single base substitution C T intron_variant LIRI-JP 16 74685055 74685055 single base substitution C T upstream_gene_variant LIRI-JP 16 74686283 74686283 single base substitution T A intron_variant LIRI-JP 16 74686283 74686283 single base substitution T A upstream_gene_variant LIRI-JP 16 74687790 74687790 single base substitution A C intron_variant LIRI-JP 16 74687790 74687790 single base substitution A C upstream_gene_variant LIRI-JP 16 74687983 74687983 single base substitution T C intron_variant LIRI-JP 16 74687983 74687983 single base substitution T C upstream_gene_variant LIRI-JP 16 74688738 74688738 single base substitution A C intron_variant LIRI-JP 16 74688974 74688974 single base substitution T C intron_variant LIRI-JP 16 74692296 74692296 single base substitution T A downstream_gene_variant LIRI-JP 16 74692296 74692296 single base substitution T A intron_variant LIRI-JP 16 74702868 74702868 single base substitution T A upstream_gene_variant LIRI-JP 16 74703414 74703414 single base substitution A G upstream_gene_variant LUSC-KR 16 74655038 74655038 single base substitution G T downstream_gene_variant LUSC-KR 16 74655267 74655267 single base substitution G A downstream_gene_variant LUSC-KR 16 74660157 74660157 single base substitution C G downstream_gene_variant LUSC-KR 16 74660157 74660157 single base substitution C G intron_variant LUSC-KR 16 74667192 74667192 single base substitution G A downstream_gene_variant LUSC-KR 16 74667192 74667192 single base substitution G A intron_variant LUSC-KR 16 74667192 74667192 single base substitution G A upstream_gene_variant LUSC-KR 16 74668700 74668700 single base substitution G A downstream_gene_variant LUSC-KR 16 74668700 74668700 single base substitution G A intron_variant LUSC-KR 16 74668700 74668700 single base substitution G A upstream_gene_variant LUSC-KR 16 74669391 74669391 single base substitution T A downstream_gene_variant LUSC-KR 16 74669391 74669391 single base substitution T A intron_variant LUSC-KR 16 74669391 74669391 single base substitution T A upstream_gene_variant LUSC-KR 16 74670458 74670458 single base substitution C T downstream_gene_variant LUSC-KR 16 74670458 74670458 single base substitution C T synonymous_variant T404T 1212G>A LUSC-KR 16 74670458 74670458 single base substitution C T upstream_gene_variant LUSC-KR 16 74677030 74677030 single base substitution G C downstream_gene_variant LUSC-KR 16 74677030 74677030 single base substitution G C intron_variant LUSC-KR 16 74677568 74677568 single base substitution T C downstream_gene_variant LUSC-KR 16 74677568 74677568 single base substitution T C intron_variant LUSC-KR 16 74695375 74695375 single base substitution T C downstream_gene_variant LUSC-KR 16 74695375 74695375 single base substitution T C intron_variant LUSC-KR 16 74700743 74700743 single base substitution G C 5_prime_UTR_variant LUSC-KR 16 74700743 74700743 single base substitution G C exon_variant LUSC-KR 16 74700743 74700743 single base substitution G C upstream_gene_variant LUSC-KR 16 74701367 74701367 single base substitution T C upstream_gene_variant LUSC-KR 16 74701387 74701387 single base substitution C G upstream_gene_variant LUSC-KR 16 74701782 74701782 single base substitution G A upstream_gene_variant LUSC-KR 16 74701930 74701930 single base substitution A T upstream_gene_variant LUSC-KR 16 74702647 74702647 single base substitution G T upstream_gene_variant LUSC-US 16 74666541 74666541 single base substitution T C exon_variant LUSC-US 16 74666541 74666541 single base substitution T C missense_variant N486S 1457A>G LUSC-US 16 74670477 74670477 single base substitution T G downstream_gene_variant LUSC-US 16 74670477 74670477 single base substitution T G splice_acceptor_variant LUSC-US 16 74670477 74670477 single base substitution T G upstream_gene_variant LUSC-US 16 74678506 74678506 single base substitution C A downstream_gene_variant LUSC-US 16 74678506 74678506 single base substitution C A exon_variant LUSC-US 16 74678506 74678506 single base substitution C A missense_variant C307F 920G>T LUSC-US 16 74695345 74695345 single base substitution C A downstream_gene_variant LUSC-US 16 74695345 74695345 single base substitution C A exon_variant LUSC-US 16 74695345 74695345 single base substitution C A intron_variant LUSC-US 16 74695345 74695345 single base substitution C A start_lost M1I 3G>T MALY-DE 16 74652039 74652039 single base substitution G A downstream_gene_variant MALY-DE 16 74655189 74655189 single base substitution C T downstream_gene_variant MALY-DE 16 74691782 74691782 single base substitution C G downstream_gene_variant MALY-DE 16 74691782 74691782 single base substitution C G intron_variant MALY-DE 16 74693547 74693547 single base substitution G A downstream_gene_variant MALY-DE 16 74693547 74693547 single base substitution G A intron_variant MALY-DE 16 74695552 74695552 single base substitution G C downstream_gene_variant MALY-DE 16 74695552 74695552 single base substitution G C intron_variant MALY-DE 16 74696092 74696092 single base substitution T C downstream_gene_variant MALY-DE 16 74696092 74696092 single base substitution T C intron_variant MALY-DE 16 74705741 74705741 single base substitution C A upstream_gene_variant MELA-AU 16 74650450 74650450 single base substitution G A downstream_gene_variant MELA-AU 16 74650509 74650509 insertion of <=200bp - T downstream_gene_variant MELA-AU 16 74651147 74651147 single base substitution A G downstream_gene_variant MELA-AU 16 74652522 74652522 single base substitution G A downstream_gene_variant MELA-AU 16 74652898 74652898 single base substitution G A downstream_gene_variant MELA-AU 16 74653664 74653664 single base substitution G A downstream_gene_variant MELA-AU 16 74654015 74654015 single base substitution G A downstream_gene_variant MELA-AU 16 74654100 74654100 single base substitution G A downstream_gene_variant MELA-AU 16 74654122 74654122 single base substitution A G downstream_gene_variant MELA-AU 16 74654539 74654539 deletion of <=200bp G - downstream_gene_variant MELA-AU 16 74655190 74655190 single base substitution G A downstream_gene_variant MELA-AU 16 74656471 74656471 single base substitution G A 3_prime_UTR_variant MELA-AU 16 74656471 74656471 single base substitution G A downstream_gene_variant MELA-AU 16 74657515 74657515 single base substitution G A 3_prime_UTR_variant MELA-AU 16 74657515 74657515 single base substitution G A downstream_gene_variant MELA-AU 16 74658238 74658238 single base substitution T G downstream_gene_variant MELA-AU 16 74658238 74658238 single base substitution T G intron_variant MELA-AU 16 74658769 74658769 single base substitution A T downstream_gene_variant MELA-AU 16 74658769 74658769 single base substitution A T intron_variant MELA-AU 16 74658960 74658960 single base substitution T G downstream_gene_variant MELA-AU 16 74658960 74658960 single base substitution T G intron_variant MELA-AU 16 74658961 74658962 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 74658961 74658962 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 74659293 74659293 single base substitution A C downstream_gene_variant MELA-AU 16 74659293 74659293 single base substitution A C intron_variant MELA-AU 16 74660064 74660064 single base substitution A C downstream_gene_variant MELA-AU 16 74660064 74660064 single base substitution A C intron_variant MELA-AU 16 74660898 74660898 single base substitution G A downstream_gene_variant MELA-AU 16 74660898 74660898 single base substitution G A intron_variant MELA-AU 16 74661322 74661322 single base substitution G A downstream_gene_variant MELA-AU 16 74661322 74661322 single base substitution G A intron_variant MELA-AU 16 74661690 74661690 single base substitution G A downstream_gene_variant MELA-AU 16 74661690 74661690 single base substitution G A intron_variant MELA-AU 16 74662812 74662812 single base substitution G A intron_variant MELA-AU 16 74663081 74663081 single base substitution G A intron_variant MELA-AU 16 74664129 74664129 single base substitution G A intron_variant MELA-AU 16 74664291 74664291 single base substitution C T intron_variant MELA-AU 16 74664578 74664578 single base substitution A C intron_variant MELA-AU 16 74665048 74665048 single base substitution G A intron_variant MELA-AU 16 74665831 74665831 single base substitution G A intron_variant MELA-AU 16 74666821 74666821 single base substitution T A downstream_gene_variant MELA-AU 16 74666821 74666821 single base substitution T A intron_variant MELA-AU 16 74666821 74666821 single base substitution T A upstream_gene_variant MELA-AU 16 74666834 74666834 single base substitution G A downstream_gene_variant MELA-AU 16 74666834 74666834 single base substitution G A intron_variant MELA-AU 16 74666834 74666834 single base substitution G A upstream_gene_variant MELA-AU 16 74667098 74667098 single base substitution C T downstream_gene_variant MELA-AU 16 74667098 74667098 single base substitution C T intron_variant MELA-AU 16 74667098 74667098 single base substitution C T upstream_gene_variant MELA-AU 16 74667536 74667536 single base substitution G A downstream_gene_variant MELA-AU 16 74667536 74667536 single base substitution G A intron_variant MELA-AU 16 74667536 74667536 single base substitution G A upstream_gene_variant MELA-AU 16 74667607 74667607 single base substitution G A downstream_gene_variant MELA-AU 16 74667607 74667607 single base substitution G A intron_variant MELA-AU 16 74667607 74667607 single base substitution G A upstream_gene_variant MELA-AU 16 74668039 74668039 single base substitution G A downstream_gene_variant MELA-AU 16 74668039 74668039 single base substitution G A intron_variant MELA-AU 16 74668039 74668039 single base substitution G A upstream_gene_variant MELA-AU 16 74668314 74668314 single base substitution A C downstream_gene_variant MELA-AU 16 74668314 74668314 single base substitution A C intron_variant MELA-AU 16 74668314 74668314 single base substitution A C upstream_gene_variant MELA-AU 16 74668718 74668718 single base substitution G A downstream_gene_variant MELA-AU 16 74668718 74668718 single base substitution G A intron_variant MELA-AU 16 74668718 74668718 single base substitution G A upstream_gene_variant MELA-AU 16 74668969 74668969 single base substitution G A downstream_gene_variant MELA-AU 16 74668969 74668969 single base substitution G A intron_variant MELA-AU 16 74668969 74668969 single base substitution G A upstream_gene_variant MELA-AU 16 74669096 74669096 single base substitution A G downstream_gene_variant MELA-AU 16 74669096 74669096 single base substitution A G intron_variant MELA-AU 16 74669096 74669096 single base substitution A G upstream_gene_variant MELA-AU 16 74669472 74669472 single base substitution G A downstream_gene_variant MELA-AU 16 74669472 74669472 single base substitution G A intron_variant MELA-AU 16 74669472 74669472 single base substitution G A upstream_gene_variant MELA-AU 16 74669513 74669513 single base substitution G A downstream_gene_variant MELA-AU 16 74669513 74669513 single base substitution G A intron_variant MELA-AU 16 74669513 74669513 single base substitution G A upstream_gene_variant MELA-AU 16 74669590 74669590 single base substitution G A downstream_gene_variant MELA-AU 16 74669590 74669590 single base substitution G A intron_variant MELA-AU 16 74669590 74669590 single base substitution G A upstream_gene_variant MELA-AU 16 74670879 74670879 single base substitution G A downstream_gene_variant MELA-AU 16 74670879 74670879 single base substitution G A intron_variant MELA-AU 16 74670879 74670879 single base substitution G A upstream_gene_variant MELA-AU 16 74671137 74671137 single base substitution C A downstream_gene_variant MELA-AU 16 74671137 74671137 single base substitution C A intron_variant MELA-AU 16 74671137 74671137 single base substitution C A upstream_gene_variant MELA-AU 16 74671285 74671285 single base substitution G A downstream_gene_variant MELA-AU 16 74671285 74671285 single base substitution G A intron_variant MELA-AU 16 74671285 74671285 single base substitution G A upstream_gene_variant MELA-AU 16 74672253 74672253 single base substitution A C intron_variant MELA-AU 16 74672374 74672374 single base substitution G A intron_variant MELA-AU 16 74672492 74672492 single base substitution G A intron_variant MELA-AU 16 74673038 74673038 single base substitution G A downstream_gene_variant MELA-AU 16 74673038 74673038 single base substitution G A intron_variant MELA-AU 16 74674235 74674235 single base substitution G A downstream_gene_variant MELA-AU 16 74674235 74674235 single base substitution G A intron_variant MELA-AU 16 74675155 74675155 single base substitution G A downstream_gene_variant MELA-AU 16 74675155 74675155 single base substitution G A intron_variant MELA-AU 16 74675208 74675208 single base substitution G A downstream_gene_variant MELA-AU 16 74675208 74675208 single base substitution G A intron_variant MELA-AU 16 74675280 74675280 single base substitution C T downstream_gene_variant MELA-AU 16 74675280 74675280 single base substitution C T intron_variant MELA-AU 16 74676260 74676260 single base substitution G A downstream_gene_variant MELA-AU 16 74676260 74676260 single base substitution G A intron_variant MELA-AU 16 74676749 74676749 single base substitution G A downstream_gene_variant MELA-AU 16 74676749 74676749 single base substitution G A intron_variant MELA-AU 16 74679397 74679397 single base substitution G A intron_variant MELA-AU 16 74679397 74679397 single base substitution G A upstream_gene_variant MELA-AU 16 74679472 74679472 single base substitution A T intron_variant MELA-AU 16 74679472 74679472 single base substitution A T upstream_gene_variant MELA-AU 16 74679642 74679642 single base substitution T A intron_variant MELA-AU 16 74679642 74679642 single base substitution T A upstream_gene_variant MELA-AU 16 74679709 74679709 single base substitution G A intron_variant MELA-AU 16 74679709 74679709 single base substitution G A upstream_gene_variant MELA-AU 16 74680253 74680253 single base substitution G A intron_variant MELA-AU 16 74680253 74680253 single base substitution G A upstream_gene_variant MELA-AU 16 74682652 74682652 single base substitution A G intron_variant MELA-AU 16 74682652 74682652 single base substitution A G upstream_gene_variant MELA-AU 16 74682776 74682776 single base substitution G A intron_variant MELA-AU 16 74682776 74682776 single base substitution G A upstream_gene_variant MELA-AU 16 74684418 74684418 single base substitution C T intron_variant MELA-AU 16 74684418 74684418 single base substitution C T upstream_gene_variant MELA-AU 16 74684998 74684998 single base substitution T A intron_variant MELA-AU 16 74684998 74684998 single base substitution T A upstream_gene_variant MELA-AU 16 74685117 74685117 single base substitution T C intron_variant MELA-AU 16 74685117 74685117 single base substitution T C upstream_gene_variant MELA-AU 16 74686776 74686776 single base substitution A G intron_variant MELA-AU 16 74686776 74686776 single base substitution A G upstream_gene_variant MELA-AU 16 74686933 74686933 insertion of <=200bp - AC intron_variant MELA-AU 16 74686933 74686933 insertion of <=200bp - AC upstream_gene_variant MELA-AU 16 74687151 74687152 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 74687151 74687152 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 74687970 74687970 single base substitution A G intron_variant MELA-AU 16 74687970 74687970 single base substitution A G upstream_gene_variant MELA-AU 16 74688498 74688498 single base substitution G A intron_variant MELA-AU 16 74689081 74689081 single base substitution A T intron_variant MELA-AU 16 74689607 74689607 single base substitution G A downstream_gene_variant MELA-AU 16 74689607 74689607 single base substitution G A intron_variant MELA-AU 16 74689707 74689707 single base substitution A G downstream_gene_variant MELA-AU 16 74689707 74689707 single base substitution A G intron_variant MELA-AU 16 74690032 74690032 insertion of <=200bp - A downstream_gene_variant MELA-AU 16 74690032 74690032 insertion of <=200bp - A intron_variant MELA-AU 16 74690655 74690655 single base substitution G A downstream_gene_variant MELA-AU 16 74690655 74690655 single base substitution G A intron_variant MELA-AU 16 74692924 74692924 single base substitution C T downstream_gene_variant MELA-AU 16 74692924 74692924 single base substitution C T intron_variant MELA-AU 16 74693290 74693290 single base substitution G A downstream_gene_variant MELA-AU 16 74693290 74693290 single base substitution G A intron_variant MELA-AU 16 74693985 74693985 single base substitution G A downstream_gene_variant MELA-AU 16 74693985 74693985 single base substitution G A intron_variant MELA-AU 16 74694317 74694317 single base substitution A T downstream_gene_variant MELA-AU 16 74694317 74694317 single base substitution A T intron_variant MELA-AU 16 74694319 74694319 single base substitution C T downstream_gene_variant MELA-AU 16 74694319 74694319 single base substitution C T intron_variant MELA-AU 16 74694940 74694940 single base substitution G A downstream_gene_variant MELA-AU 16 74694940 74694940 single base substitution G A exon_variant MELA-AU 16 74694940 74694940 single base substitution G A intron_variant MELA-AU 16 74694940 74694940 single base substitution G A synonymous_variant F136F 408C>T MELA-AU 16 74695785 74695785 single base substitution G A downstream_gene_variant MELA-AU 16 74695785 74695785 single base substitution G A intron_variant MELA-AU 16 74696253 74696253 single base substitution G C downstream_gene_variant MELA-AU 16 74696253 74696253 single base substitution G C intron_variant MELA-AU 16 74696866 74696866 single base substitution G A downstream_gene_variant MELA-AU 16 74696866 74696866 single base substitution G A intron_variant MELA-AU 16 74697055 74697055 single base substitution G A downstream_gene_variant MELA-AU 16 74697055 74697055 single base substitution G A intron_variant MELA-AU 16 74697098 74697098 single base substitution G A downstream_gene_variant MELA-AU 16 74697098 74697098 single base substitution G A intron_variant MELA-AU 16 74697279 74697279 single base substitution A T downstream_gene_variant MELA-AU 16 74697279 74697279 single base substitution A T intron_variant MELA-AU 16 74697618 74697618 single base substitution G A downstream_gene_variant MELA-AU 16 74697618 74697618 single base substitution G A intron_variant MELA-AU 16 74698270 74698270 single base substitution G A exon_variant MELA-AU 16 74698270 74698270 single base substitution G A intron_variant MELA-AU 16 74698884 74698884 single base substitution T C intron_variant MELA-AU 16 74699040 74699040 single base substitution G A intron_variant MELA-AU 16 74699373 74699373 single base substitution G A intron_variant MELA-AU 16 74699738 74699738 single base substitution G A intron_variant MELA-AU 16 74700446 74700446 single base substitution C T intron_variant MELA-AU 16 74700446 74700446 single base substitution C T upstream_gene_variant MELA-AU 16 74700886 74700886 single base substitution G A upstream_gene_variant MELA-AU 16 74700952 74700952 single base substitution G A upstream_gene_variant MELA-AU 16 74700953 74700953 single base substitution G A upstream_gene_variant MELA-AU 16 74701004 74701004 single base substitution C T upstream_gene_variant MELA-AU 16 74701005 74701005 single base substitution G A upstream_gene_variant MELA-AU 16 74702036 74702036 single base substitution C T upstream_gene_variant MELA-AU 16 74702561 74702561 single base substitution C T upstream_gene_variant MELA-AU 16 74703023 74703023 single base substitution G A upstream_gene_variant MELA-AU 16 74703523 74703523 single base substitution G A upstream_gene_variant MELA-AU 16 74703660 74703660 single base substitution G A upstream_gene_variant MELA-AU 16 74703669 74703669 single base substitution C T upstream_gene_variant MELA-AU 16 74703789 74703789 single base substitution G T upstream_gene_variant MELA-AU 16 74704171 74704171 single base substitution G A upstream_gene_variant MELA-AU 16 74704225 74704225 single base substitution G A upstream_gene_variant MELA-AU 16 74704311 74704311 single base substitution C T upstream_gene_variant MELA-AU 16 74704585 74704585 single base substitution G A upstream_gene_variant MELA-AU 16 74704666 74704666 single base substitution C T upstream_gene_variant MELA-AU 16 74704677 74704677 single base substitution G T upstream_gene_variant MELA-AU 16 74705088 74705088 single base substitution G A upstream_gene_variant MELA-AU 16 74705398 74705399 multiple base substitution (>=2bp and <=200bp) GC TA upstream_gene_variant ORCA-IN 16 74662426 74662426 single base substitution C T exon_variant ORCA-IN 16 74662426 74662426 single base substitution C T synonymous_variant L631L 1893G>A ORCA-IN 16 74689619 74689619 single base substitution C T downstream_gene_variant ORCA-IN 16 74689619 74689619 single base substitution C T intron_variant ORCA-IN 16 74690985 74690985 single base substitution C G downstream_gene_variant ORCA-IN 16 74690985 74690985 single base substitution C G intron_variant ORCA-IN 16 74700091 74700092 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant OV-AU 16 74657865 74657865 single base substitution G A downstream_gene_variant OV-AU 16 74657865 74657865 single base substitution G A synonymous_variant T762T 2286C>T OV-AU 16 74667602 74667602 single base substitution C G downstream_gene_variant OV-AU 16 74667602 74667602 single base substitution C G intron_variant OV-AU 16 74667602 74667602 single base substitution C G upstream_gene_variant OV-AU 16 74668759 74668759 single base substitution G T downstream_gene_variant OV-AU 16 74668759 74668759 single base substitution G T intron_variant OV-AU 16 74668759 74668759 single base substitution G T upstream_gene_variant OV-AU 16 74677750 74677750 single base substitution A C downstream_gene_variant OV-AU 16 74677750 74677750 single base substitution A C intron_variant OV-AU 16 74684031 74684031 single base substitution A C intron_variant OV-AU 16 74684031 74684031 single base substitution A C upstream_gene_variant OV-AU 16 74700438 74700438 single base substitution C A intron_variant OV-AU 16 74700438 74700438 single base substitution C A upstream_gene_variant OV-AU 16 74702373 74702373 single base substitution G C upstream_gene_variant OV-AU 16 74704675 74704675 single base substitution C T upstream_gene_variant PACA-AU 16 74650679 74650679 single base substitution G A downstream_gene_variant PACA-AU 16 74650796 74650796 deletion of <=200bp A - downstream_gene_variant PACA-AU 16 74667556 74667556 single base substitution A C downstream_gene_variant PACA-AU 16 74667556 74667556 single base substitution A C intron_variant PACA-AU 16 74667556 74667556 single base substitution A C upstream_gene_variant PACA-AU 16 74673024 74673024 deletion of <=200bp C - downstream_gene_variant PACA-AU 16 74673024 74673024 deletion of <=200bp C - intron_variant PACA-AU 16 74677430 74677430 single base substitution A C downstream_gene_variant PACA-AU 16 74677430 74677430 single base substitution A C intron_variant PACA-AU 16 74677719 74677719 single base substitution G A downstream_gene_variant PACA-AU 16 74677719 74677719 single base substitution G A intron_variant PACA-AU 16 74677910 74677910 insertion of <=200bp - T downstream_gene_variant PACA-AU 16 74677910 74677910 insertion of <=200bp - T exon_variant PACA-AU 16 74677910 74677910 insertion of <=200bp - T intron_variant PACA-AU 16 74679468 74679468 single base substitution C G intron_variant PACA-AU 16 74679468 74679468 single base substitution C G upstream_gene_variant PACA-AU 16 74689362 74689362 single base substitution G A intron_variant PACA-AU 16 74695848 74695848 single base substitution A C downstream_gene_variant PACA-AU 16 74695848 74695848 single base substitution A C intron_variant PACA-AU 16 74702814 74702814 single base substitution G A upstream_gene_variant PACA-CA 16 74654742 74654742 single base substitution C T downstream_gene_variant PACA-CA 16 74658197 74658197 single base substitution G A downstream_gene_variant PACA-CA 16 74658197 74658197 single base substitution G A intron_variant PACA-CA 16 74658587 74658587 single base substitution G A downstream_gene_variant PACA-CA 16 74658587 74658587 single base substitution G A intron_variant PACA-CA 16 74662234 74662234 single base substitution C A downstream_gene_variant PACA-CA 16 74662234 74662234 single base substitution C A intron_variant PACA-CA 16 74662442 74662442 single base substitution T C exon_variant PACA-CA 16 74662442 74662442 single base substitution T C missense_variant H626R 1877A>G PACA-CA 16 74663064 74663064 single base substitution C T intron_variant PACA-CA 16 74663070 74663070 single base substitution G T intron_variant PACA-CA 16 74664987 74664987 single base substitution C G intron_variant PACA-CA 16 74665954 74665954 single base substitution T C intron_variant PACA-CA 16 74666888 74666888 single base substitution A G downstream_gene_variant PACA-CA 16 74666888 74666888 single base substitution A G intron_variant PACA-CA 16 74666888 74666888 single base substitution A G upstream_gene_variant PACA-CA 16 74667206 74667206 single base substitution G C downstream_gene_variant PACA-CA 16 74667206 74667206 single base substitution G C intron_variant PACA-CA 16 74667206 74667206 single base substitution G C upstream_gene_variant PACA-CA 16 74669164 74669164 single base substitution G C downstream_gene_variant PACA-CA 16 74669164 74669164 single base substitution G C intron_variant PACA-CA 16 74669164 74669164 single base substitution G C upstream_gene_variant PACA-CA 16 74674324 74674324 single base substitution G C downstream_gene_variant PACA-CA 16 74674324 74674324 single base substitution G C intron_variant PACA-CA 16 74674460 74674460 single base substitution G C downstream_gene_variant PACA-CA 16 74674460 74674460 single base substitution G C intron_variant PACA-CA 16 74677061 74677061 single base substitution T C downstream_gene_variant PACA-CA 16 74677061 74677061 single base substitution T C intron_variant PACA-CA 16 74689303 74689303 deletion of <=200bp A - intron_variant PACA-CA 16 74695594 74695594 single base substitution T C downstream_gene_variant PACA-CA 16 74695594 74695594 single base substitution T C intron_variant PACA-CA 16 74698481 74698481 insertion of <=200bp - A exon_variant PACA-CA 16 74698481 74698481 insertion of <=200bp - A intron_variant PACA-CA 16 74698649 74698649 insertion of <=200bp - AAG intron_variant PACA-CA 16 74698649 74698649 insertion of <=200bp - AAG splice_region_variant PACA-CA 16 74698717 74698717 single base substitution C G intron_variant PACA-CA 16 74702020 74702020 single base substitution C T upstream_gene_variant PACA-CA 16 74702778 74702778 insertion of <=200bp - T upstream_gene_variant PACA-CA 16 74705449 74705449 single base substitution T C upstream_gene_variant PAEN-AU 16 74696549 74696549 single base substitution T A downstream_gene_variant PAEN-AU 16 74696549 74696549 single base substitution T A intron_variant PAEN-IT 16 74669085 74669085 single base substitution G T downstream_gene_variant PAEN-IT 16 74669085 74669085 single base substitution G T intron_variant PAEN-IT 16 74669085 74669085 single base substitution G T upstream_gene_variant PBCA-DE 16 74653350 74653350 single base substitution C A downstream_gene_variant PBCA-DE 16 74659265 74659265 insertion of <=200bp - A downstream_gene_variant PBCA-DE 16 74659265 74659265 insertion of <=200bp - A intron_variant PBCA-DE 16 74660721 74660721 single base substitution T A downstream_gene_variant PBCA-DE 16 74660721 74660721 single base substitution T A intron_variant PBCA-DE 16 74668367 74668367 single base substitution C T downstream_gene_variant PBCA-DE 16 74668367 74668367 single base substitution C T intron_variant PBCA-DE 16 74668367 74668367 single base substitution C T upstream_gene_variant PBCA-DE 16 74676835 74676835 single base substitution C G downstream_gene_variant PBCA-DE 16 74676835 74676835 single base substitution C G intron_variant PBCA-DE 16 74681988 74681988 single base substitution G A intron_variant PBCA-DE 16 74681988 74681988 single base substitution G A upstream_gene_variant PBCA-DE 16 74690032 74690032 insertion of <=200bp - A downstream_gene_variant PBCA-DE 16 74690032 74690032 insertion of <=200bp - A intron_variant PBCA-DE 16 74704887 74704887 insertion of <=200bp - AC upstream_gene_variant PRAD-CA 16 74654888 74654888 single base substitution A G downstream_gene_variant PRAD-CA 16 74664248 74664248 single base substitution G A intron_variant PRAD-CA 16 74674747 74674747 single base substitution G A downstream_gene_variant PRAD-CA 16 74674747 74674747 single base substitution G A intron_variant PRAD-CA 16 74687751 74687751 single base substitution C T intron_variant PRAD-CA 16 74687751 74687751 single base substitution C T upstream_gene_variant PRAD-CA 16 74703418 74703418 single base substitution T C upstream_gene_variant PRAD-UK 16 74657267 74657267 single base substitution G A 3_prime_UTR_variant PRAD-UK 16 74657267 74657267 single base substitution G A downstream_gene_variant PRAD-UK 16 74660634 74660634 single base substitution G A downstream_gene_variant PRAD-UK 16 74660634 74660634 single base substitution G A intron_variant PRAD-UK 16 74666523 74666523 single base substitution T C exon_variant PRAD-UK 16 74666523 74666523 single base substitution T C missense_variant Y492C 1475A>G PRAD-UK 16 74673802 74673802 single base substitution T C downstream_gene_variant PRAD-UK 16 74673802 74673802 single base substitution T C intron_variant PRAD-UK 16 74674431 74674431 single base substitution C T downstream_gene_variant PRAD-UK 16 74674431 74674431 single base substitution C T intron_variant PRAD-UK 16 74688600 74688600 single base substitution T C intron_variant PRAD-UK 16 74702229 74702229 insertion of <=200bp - A upstream_gene_variant PRAD-UK 16 74704761 74704761 single base substitution A C upstream_gene_variant PRAD-UK 16 74705662 74705662 single base substitution T C upstream_gene_variant READ-US 16 74660431 74660431 single base substitution C T downstream_gene_variant READ-US 16 74660431 74660431 single base substitution C T missense_variant R664Q 1991G>A RECA-EU 16 74664814 74664814 single base substitution C T exon_variant RECA-EU 16 74664814 74664814 single base substitution C T missense_variant R540H 1619G>A RECA-EU 16 74677568 74677568 single base substitution T C downstream_gene_variant RECA-EU 16 74677568 74677568 single base substitution T C intron_variant RECA-EU 16 74684484 74684484 single base substitution G T intron_variant RECA-EU 16 74684484 74684484 single base substitution G T upstream_gene_variant RECA-EU 16 74687641 74687641 single base substitution T G intron_variant RECA-EU 16 74687641 74687641 single base substitution T G upstream_gene_variant RECA-EU 16 74687778 74687778 single base substitution T A intron_variant RECA-EU 16 74687778 74687778 single base substitution T A upstream_gene_variant RECA-EU 16 74688680 74688680 single base substitution A G intron_variant RECA-EU 16 74691346 74691346 single base substitution T A downstream_gene_variant RECA-EU 16 74691346 74691346 single base substitution T A intron_variant RECA-EU 16 74691954 74691954 single base substitution G A downstream_gene_variant RECA-EU 16 74691954 74691954 single base substitution G A intron_variant SKCA-BR 16 74650663 74650663 insertion of <=200bp - TA downstream_gene_variant SKCA-BR 16 74650790 74650790 single base substitution G A downstream_gene_variant SKCA-BR 16 74651284 74651284 insertion of <=200bp - ACACC downstream_gene_variant SKCA-BR 16 74654189 74654189 insertion of <=200bp - AT downstream_gene_variant SKCA-BR 16 74657485 74657485 single base substitution A T 3_prime_UTR_variant SKCA-BR 16 74657485 74657485 single base substitution A T downstream_gene_variant SKCA-BR 16 74658934 74658934 single base substitution T C downstream_gene_variant SKCA-BR 16 74658934 74658934 single base substitution T C intron_variant SKCA-BR 16 74659395 74659395 single base substitution G A downstream_gene_variant SKCA-BR 16 74659395 74659395 single base substitution G A intron_variant SKCA-BR 16 74659412 74659412 insertion of <=200bp - GA downstream_gene_variant SKCA-BR 16 74659412 74659412 insertion of <=200bp - GA intron_variant SKCA-BR 16 74659427 74659427 single base substitution G A downstream_gene_variant SKCA-BR 16 74659427 74659427 single base substitution G A intron_variant SKCA-BR 16 74660266 74660266 single base substitution C T downstream_gene_variant SKCA-BR 16 74660266 74660266 single base substitution C T missense_variant G719E 2156G>A SKCA-BR 16 74664191 74664191 single base substitution T G intron_variant SKCA-BR 16 74666003 74666003 single base substitution G A intron_variant SKCA-BR 16 74666614 74666614 single base substitution A G exon_variant SKCA-BR 16 74666614 74666614 single base substitution A G intron_variant SKCA-BR 16 74667177 74667177 insertion of <=200bp - GA downstream_gene_variant SKCA-BR 16 74667177 74667177 insertion of <=200bp - GA intron_variant SKCA-BR 16 74667177 74667177 insertion of <=200bp - GA upstream_gene_variant SKCA-BR 16 74669369 74669370 deletion of <=200bp GA - downstream_gene_variant SKCA-BR 16 74669369 74669370 deletion of <=200bp GA - intron_variant SKCA-BR 16 74669369 74669370 deletion of <=200bp GA - upstream_gene_variant SKCA-BR 16 74669495 74669495 single base substitution G A downstream_gene_variant SKCA-BR 16 74669495 74669495 single base substitution G A intron_variant SKCA-BR 16 74669495 74669495 single base substitution G A upstream_gene_variant SKCA-BR 16 74669653 74669653 single base substitution A T downstream_gene_variant SKCA-BR 16 74669653 74669653 single base substitution A T intron_variant SKCA-BR 16 74669653 74669653 single base substitution A T upstream_gene_variant SKCA-BR 16 74672934 74672937 deletion of <=200bp CTTT - downstream_gene_variant SKCA-BR 16 74672934 74672937 deletion of <=200bp CTTT - intron_variant SKCA-BR 16 74675858 74675858 single base substitution G A downstream_gene_variant SKCA-BR 16 74675858 74675858 single base substitution G A intron_variant SKCA-BR 16 74676917 74676917 single base substitution C A downstream_gene_variant SKCA-BR 16 74676917 74676917 single base substitution C A intron_variant SKCA-BR 16 74677567 74677567 insertion of <=200bp - GC downstream_gene_variant SKCA-BR 16 74677567 74677567 insertion of <=200bp - GC intron_variant SKCA-BR 16 74677568 74677568 single base substitution T C downstream_gene_variant SKCA-BR 16 74677568 74677568 single base substitution T C intron_variant SKCA-BR 16 74677983 74677983 single base substitution T G downstream_gene_variant SKCA-BR 16 74677983 74677983 single base substitution T G exon_variant SKCA-BR 16 74677983 74677983 single base substitution T G intron_variant SKCA-BR 16 74677986 74677986 single base substitution T G downstream_gene_variant SKCA-BR 16 74677986 74677986 single base substitution T G exon_variant SKCA-BR 16 74677986 74677986 single base substitution T G intron_variant SKCA-BR 16 74678008 74678008 single base substitution T A downstream_gene_variant SKCA-BR 16 74678008 74678008 single base substitution T A exon_variant SKCA-BR 16 74678008 74678008 single base substitution T A intron_variant SKCA-BR 16 74688711 74688711 single base substitution G T intron_variant SKCA-BR 16 74688738 74688738 single base substitution A C intron_variant SKCA-BR 16 74690626 74690626 single base substitution G A downstream_gene_variant SKCA-BR 16 74690626 74690626 single base substitution G A intron_variant SKCA-BR 16 74691376 74691376 single base substitution C T downstream_gene_variant SKCA-BR 16 74691376 74691376 single base substitution C T intron_variant SKCA-BR 16 74692650 74692650 single base substitution G A downstream_gene_variant SKCA-BR 16 74692650 74692650 single base substitution G A intron_variant SKCA-BR 16 74692664 74692666 deletion of <=200bp ATT - downstream_gene_variant SKCA-BR 16 74692664 74692666 deletion of <=200bp ATT - intron_variant SKCA-BR 16 74695633 74695633 single base substitution G A downstream_gene_variant SKCA-BR 16 74695633 74695633 single base substitution G A intron_variant SKCA-BR 16 74699967 74699967 single base substitution A G intron_variant SKCA-BR 16 74699995 74699995 single base substitution A G intron_variant SKCA-BR 16 74700000 74700000 single base substitution A G intron_variant SKCA-BR 16 74700008 74700008 single base substitution A G intron_variant SKCA-BR 16 74700843 74700843 single base substitution A G upstream_gene_variant SKCA-BR 16 74700888 74700888 single base substitution T C upstream_gene_variant SKCA-BR 16 74700924 74700924 single base substitution C T upstream_gene_variant SKCA-BR 16 74700950 74700950 single base substitution G A upstream_gene_variant SKCA-BR 16 74701868 74701868 single base substitution C T upstream_gene_variant SKCA-BR 16 74702560 74702560 single base substitution C T upstream_gene_variant SKCM-US 16 74662525 74662525 single base substitution G A exon_variant SKCM-US 16 74662525 74662525 single base substitution G A synonymous_variant A598A 1794C>T SKCM-US 16 74670390 74670390 single base substitution G A downstream_gene_variant SKCM-US 16 74670390 74670390 single base substitution G A missense_variant S427F 1280C>T SKCM-US 16 74670390 74670390 single base substitution G A upstream_gene_variant SKCM-US 16 74685906 74685906 single base substitution A G 5_prime_UTR_variant SKCM-US 16 74685906 74685906 single base substitution A G synonymous_variant S211S 633T>C SKCM-US 16 74685906 74685906 single base substitution A G upstream_gene_variant SKCM-US 16 74694866 74694866 single base substitution G A downstream_gene_variant SKCM-US 16 74694866 74694866 single base substitution G A exon_variant SKCM-US 16 74694866 74694866 single base substitution G A intron_variant SKCM-US 16 74694866 74694866 single base substitution G A missense_variant A161V 482C>T SKCM-US 16 74695200 74695200 single base substitution G A downstream_gene_variant SKCM-US 16 74695200 74695200 single base substitution G A exon_variant SKCM-US 16 74695200 74695200 single base substitution G A intron_variant SKCM-US 16 74695200 74695200 single base substitution G A missense_variant P50S 148C>T SKCM-US 16 74695298 74695298 single base substitution G A downstream_gene_variant SKCM-US 16 74695298 74695298 single base substitution G A exon_variant SKCM-US 16 74695298 74695298 single base substitution G A intron_variant SKCM-US 16 74695298 74695298 single base substitution G A missense_variant A17V 50C>T STAD-US 16 74670377 74670377 single base substitution C T downstream_gene_variant STAD-US 16 74670377 74670377 single base substitution C T synonymous_variant Q431Q 1293G>A STAD-US 16 74670377 74670377 single base substitution C T upstream_gene_variant STAD-US 16 74671848 74671848 single base substitution A G exon_variant STAD-US 16 74671848 74671848 single base substitution A G missense_variant M367T 1100T>C UCEC-US 16 74664717 74664717 single base substitution C T exon_variant UCEC-US 16 74664717 74664717 single base substitution C T synonymous_variant T572T 1716G>A UCEC-US 16 74666557 74666557 single base substitution T C exon_variant UCEC-US 16 74666557 74666557 single base substitution T C missense_variant M481V 1441A>G UCEC-US 16 74678509 74678509 single base substitution C T downstream_gene_variant UCEC-US 16 74678509 74678509 single base substitution C T exon_variant UCEC-US 16 74678509 74678509 single base substitution C T missense_variant R306H 917G>A UCEC-US 16 74683060 74683060 single base substitution A G 5_prime_UTR_variant UCEC-US 16 74683060 74683060 single base substitution A G exon_variant UCEC-US 16 74683060 74683060 single base substitution A G synonymous_variant C254C 762T>C UCEC-US 16 74683060 74683060 single base substitution A G upstream_gene_variant UCEC-US 16 74694858 74694858 single base substitution C T downstream_gene_variant UCEC-US 16 74694858 74694858 single base substitution C T exon_variant UCEC-US 16 74694858 74694858 single base substitution C T intron_variant UCEC-US 16 74694858 74694858 single base substitution C T missense_variant G164R 490G>A UCEC-US 16 74695153 74695153 single base substitution C T downstream_gene_variant UCEC-US 16 74695153 74695153 single base substitution C T exon_variant UCEC-US 16 74695153 74695153 single base substitution C T intron_variant UCEC-US 16 74695153 74695153 single base substitution C T synonymous_variant A65A 195G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 12 COSM973639 c.1441A>G p.M481V Substitution - Missense 16:74632659-74632659 - TCGA-AC-A23H-01 COSM3818547 c.1334C>G p.S445C Substitution - Missense 16:74636438-74636438 - ML_108_T_01 COSM5037993 c.2156G>A p.G719E Substitution - Missense 16:74626368-74626368 - SW48 COSM2690916 c.114T>C p.P38P Substitution - coding silent 16:74661336-74661336 - TCGA-AX-A06H-01 COSM973640 c.917G>A p.R306H Substitution - Missense 16:74644611-74644611 - TCGA-66-2756-01 COSM704144 c.920G>T p.C307F Substitution - Missense 16:74644608-74644608 - 116 COSM1741377 c.419C>T p.S140L Substitution - Missense 16:74661031-74661031 - TCGA-A8-A09Z-01 COSM3818545 c.2204C>T p.S735L Substitution - Missense 16:74624049-74624049 - AOCS-130-1-0 COSM4141901 c.2286C>T p.T762T Substitution - coding silent 16:74623967-74623967 - GHE1438 COSM5715244 c.797C>T p.S266F Substitution - Missense 16:74644731-74644731 - TCGA-AD-6889-01 COSM1379758 c.2073delT p.F691fs*9 Deletion - Frameshift 16:74626451-74626451 - C086 COSM5538129 c.347C>T p.S116L Substitution - Missense 16:74661103-74661103 - HCC71T COSM1609657 c.503G>A p.R168K Substitution - Missense 16:74660947-74660947 - BN01 COSM1609658 c.400C>G p.L134V Substitution - Missense 16:74661050-74661050 - BN19T COSM1609659 c.44A>G p.N15S Substitution - Missense 16:74661406-74661406 - LAU618 COSM233257 c.1062A>C p.E354D Substitution - Missense 16:74644379-74644379 - TCGA-QB-A6FS-06 COSM3888953 c.1280C>T p.S427F Substitution - Missense 16:74636492-74636492 - CHEWS035 COSM4579262 c.1034G>A p.R345Q Substitution - Missense 16:74644407-74644407 - 112731 COSM95177 c.479G>A p.R160K Substitution - Missense 16:74660971-74660971 - Pat_16_A COSM417260 c.547C>T p.Q183* Substitution - Nonsense 16:74652094-74652094 - BD152T COSM5507054 c.1184G>T p.R395M Substitution - Missense 16:74637866-74637866 - TCGA-G4-6628-01 COSM1379760 c.923G>T p.G308V Substitution - Missense 16:74644605-74644605 - HCT15 COSM2690867 c.2001G>T p.L667L Substitution - coding silent 16:74626523-74626523 - LIM1215 COSM4262536 c.114T>A p.P38P Substitution - coding silent 16:74661336-74661336 - Pat_16_B COSM417260 c.547C>T p.Q183* Substitution - Nonsense 16:74652094-74652094 - LIM1215 COSM4262535 c.116T>C p.V39A Substitution - Missense 16:74661334-74661334 - T25 COSM148117 c.1690A>G p.I564V Substitution - Missense 16:74630845-74630845 - 86563 COSM95178 c.106C>A p.L36I Substitution - Missense 16:74661344-74661344 - BN01T COSM1609658 c.400C>G p.L134V Substitution - Missense 16:74661050-74661050 - H441 COSM1193636 c.235G>C p.D79H Substitution - Missense 16:74661215-74661215 - DLD1 COSM2690867 c.2001G>T p.L667L Substitution - coding silent 16:74626523-74626523 - 10-P083 COSM4579260 c.1758C>T p.C586C Substitution - coding silent 16:74628663-74628663 - OSCC-GB_01210111 COSM5954892 c.1893G>A p.L631L Substitution - coding silent 16:74628528-74628528 - 104172 COSM95176 c.899A>T p.H300L Substitution - Missense 16:74644629-74644629 - Pat_06_B COSM5851475 c.1451C>T p.T484I Substitution - Missense 16:74632649-74632649 - 2293782 COSM4608630 c.152C>A p.S51Y Substitution - Missense 16:74661298-74661298 - C0085T COSM4151410 c.1619G>A p.R540H Substitution - Missense 16:74630916-74630916 - I2L-P19Ta-Tumor-Organoid COSM5363202 c.418delT p.S140fs*7 Deletion - Frameshift 16:74661032-74661032 - TCGA-D1-A167-01 COSM973647 c.195G>A p.A65A Substitution - coding silent 16:74661255-74661255 - 255 COSM3731804 c.1512G>A p.A504A Substitution - coding silent 16:74632588-74632588 - BN19 COSM1609659 c.44A>G p.N15S Substitution - Missense 16:74661406-74661406 - ME045T COSM229577 c.1194+1G>A p.? Unknown 16:74637855-74637855 - CSCC-20-T COSM4460241 c.1158C>T p.L386L Substitution - coding silent 16:74637892-74637892 - TCGA-B4-5377-01 COSM472104 c.351G>A p.L117L Substitution - coding silent 16:74661099-74661099 - TCGA-HU-A4G9-01 COSM4062773 c.1293G>A p.Q431Q Substitution - coding silent 16:74636479-74636479 - 0034_CRUK_PC_0034_T1_DNA COSM5422080 c.1475A>G p.Y492C Substitution - Missense 16:74632625-74632625 - EOPC-02_tumor COSM3812424 c.1623T>A p.P541P Substitution - coding silent 16:74630912-74630912 - ESCC-014T COSM3937162 c.310C>T p.Q104* Substitution - Nonsense 16:74661140-74661140 - YUFLA COSM1709389 c.173C>T p.A58V Substitution - Missense 16:74661277-74661277 - TCGA-AA-A00N-01 COSM277051 c.1117G>A p.E373K Substitution - Missense 16:74637933-74637933 - U87 COSM2690861 c.2273G>A p.S758N Substitution - Missense 16:74623980-74623980 - SNU-C2B COSM2690907 c.476G>A p.R159Q Substitution - Missense 16:74660974-74660974 - TCGA-BG-A0VZ-01 COSM973643 c.762T>C p.C254C Substitution - coding silent 16:74649162-74649162 - TCGA-FW-A3R5-06 COSM3888952 c.1794C>T p.A598A Substitution - coding silent 16:74628627-74628627 - PD4203a COSM163993 c.1408C>T p.Q470* Substitution - Nonsense 16:74636364-74636364 - TCGA-BT-A3PJ-01 COSM3795125 c.1048T>G p.L350V Substitution - Missense 16:74644393-74644393 - CSCC-35-T COSM4509186 c.7C>T p.H3Y Substitution - Missense 16:74661443-74661443 - T407 COSM559104 c.1782G>A p.M594I Substitution - Missense 16:74628639-74628639 - 1115157 COSM5551171 c.1170C>T p.C390C Substitution - coding silent 16:74637880-74637880 - OV207 COSM253089 c.2105delA p.N702fs*53 Deletion - Frameshift 16:74626419-74626419 - TCGA-BS-A0UF-01 COSM973639 c.1441A>G p.M481V Substitution - Missense 16:74632659-74632659 - 585203 COSM323042 c.351G>C p.L117F Substitution - Missense 16:74661099-74661099 - TCGA-AD-6889-01 COSM1379759 c.1827T>C p.A609A Substitution - coding silent 16:74628594-74628594 - YUMUL COSM5385377 c.1330G>A p.V444I Substitution - Missense 16:74636442-74636442 - LIM1215 COSM4639412 c.130G>A p.V44I Substitution - Missense 16:74661320-74661320 - 526LT COSM148117 c.1690A>G p.I564V Substitution - Missense 16:74630845-74630845 - 1018 COSM5730916 c.1248C>T p.G416G Substitution - coding silent 16:74636524-74636524 - TCGA-AD-5900-01 COSM1379761 c.194C>T p.A65V Substitution - Missense 16:74661256-74661256 - TCGA-A8-A0A6-01 COSM3818546 c.1815T>G p.G605G Substitution - coding silent 16:74628606-74628606 - TCGA-EI-6917-01 COSM3421157 c.1991G>A p.R664Q Substitution - Missense 16:74626533-74626533 - GC8_T COSM148117 c.1690A>G p.I564V Substitution - Missense 16:74630845-74630845 - H1672 COSM314757 c.1735T>C p.L579L Substitution - coding silent 16:74630800-74630800 - TCGA-DK-A1A7-01 COSM417260 c.547C>T p.Q183* Substitution - Nonsense 16:74652094-74652094 - T578 COSM1679270 c.1709G>A p.R570Q Substitution - Missense 16:74630826-74630826 - Pat_05_A COSM5851476 c.784C>T p.P262S Substitution - Missense 16:74649140-74649140 - CHEWS003 COSM4579261 c.1048T>C p.L350L Substitution - coding silent 16:74644393-74644393 - LIM1215 COSM4262534 c.126T>G p.D42E Substitution - Missense 16:74661324-74661324 - TCGA-56-6545-01 COSM704146 c.1195-2A>C p.? Unknown 16:74636579-74636579 - TCGA-FD-A3SN-01 COSM3795126 c.643G>A p.D215N Substitution - Missense 16:74651998-74651998 - LUAD_E00565 COSM389192 c.2078G>T p.G693V Substitution - Missense 16:74626446-74626446 - 587222 COSM1223594 c.1139G>A p.R380Q Substitution - Missense 16:74637911-74637911 - TCGA-AP-A0LM-01 COSM973638 c.1716G>A p.T572T Substitution - coding silent 16:74630819-74630819 - tumor_4116738 COSM1161178 c.145G>T p.V49L Substitution - Missense 16:74661305-74661305 - TCGA-D9-A6E9-06 COSM4399492 c.482C>T p.A161V Substitution - Missense 16:74660968-74660968 - TCGA-EE-A2GR-06 COSM3512171 c.148C>T p.P50S Substitution - Missense 16:74661302-74661302 - TCGA-BG-A0MC-01 COSM973646 c.490G>A p.G164R Substitution - Missense 16:74660960-74660960 - TCGA-DK-A3IT-01 COSM1302242 c.662C>T p.S221F Substitution - Missense 16:74651979-74651979 - BD72T COSM5513215 c.489C>T p.A163A Substitution - coding silent 16:74660961-74660961 - HCC2998 COSM1679270 c.1709G>A p.R570Q Substitution - Missense 16:74630826-74630826 - Sample_1 COSM3812424 c.1623T>A p.P541P Substitution - coding silent 16:74630912-74630912 - C086 COSM5538130 c.688C>T p.Q230* Substitution - Nonsense 16:74651953-74651953 - PCSI_0090_Pa_X COSM3377975 c.1877A>G p.H626R Substitution - Missense 16:74628544-74628544 - TCGA-FS-A1YW-06 COSM3512170 c.633T>C p.S211S Substitution - coding silent 16:74652008-74652008 - HCC71 COSM1609657 c.503G>A p.R168K Substitution - Missense 16:74660947-74660947 - TCGA-39-5035-01 COSM704143 c.3G>T p.M1I Substitution - Missense 16:74661447-74661447 - TCGA-E5-A2PC-01 COSM1302243 c.109C>T p.Q37* Substitution - Nonsense 16:74661341-74661341 - PD11364a COSM5782998 c.1608T>C p.Y536Y Substitution - coding silent 16:74630927-74630927 - CPCG0183-P2 COSM148117 c.1690A>G p.I564V Substitution - Missense 16:74630845-74630845 - H1155 COSM1195430 c.2267G>A p.R756H Substitution - Missense 16:74623986-74623986 - CSCC-32-T COSM4509864 c.81C>T p.A27A Substitution - coding silent 16:74661369-74661369 - TCGA-FP-A4BE-01 COSM4062774 c.1100T>C p.M367T Substitution - Missense 16:74637950-74637950 - HCC2998 COSM1679270 c.1709G>A p.R570Q Substitution - Missense 16:74630826-74630826 - Pat_05_B COSM5851476 c.784C>T p.P262S Substitution - Missense 16:74649140-74649140 - 18195 COSM1302243 c.109C>T p.Q37* Substitution - Nonsense 16:74661341-74661341 - I2L-P10-Tumor-Organoid COSM5363272 c.1444T>C p.L482L Substitution - coding silent 16:74632656-74632656 - EGC8 COSM1379758 c.2073delT p.F691fs*9 Deletion - Frameshift 16:74626451-74626451 - ESO-0292 COSM1241658 c.111G>A p.Q37Q Substitution - coding silent 16:74661339-74661339 - TCGA-QB-A6FS-06 COSM3888954 c.50C>T p.A17V Substitution - Missense 16:74661400-74661400 - TCGA-18-3411-01 COSM704147 c.1457A>G p.N486S Substitution - Missense 16:74632643-74632643 - 384 COSM4426768 c.996G>C p.K332N Substitution - Missense 16:74644445-74644445 - T3306 COSM4151410 c.1619G>A p.R540H Substitution - Missense 16:74630916-74630916 - TCGA-D8-A1J9-01 COSM1479096 c.1219C>G p.Q407E Substitution - Missense 16:74636553-74636553 - I2L-P19Ta-Tumor-Biopsy COSM5363202 c.418delT p.S140fs*7 Deletion - Frameshift 16:74661032-74661032 - ESO-327 COSM1264053 c.901C>A p.R301R Substitution - coding silent 16:74644627-74644627 - RK046_C01 COSM1629987 c.2152A>G p.T718A Substitution - Missense 16:74626372-74626372 - ACINAR04 COSM1735328 c.942G>C p.R314S Substitution - Missense 16:74644586-74644586 - T3498 COSM4721199 c.1352G>A p.R451Q Substitution - Missense 16:74636420-74636420 - TCGA-C8-A26Y-01 COSM3818548 c.244G>C p.E82Q Substitution - Missense 16:74661206-74661206 - LS411 COSM2690895 c.830C>T p.A277V Substitution - Missense 16:74644698-74644698 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.567525 16q23.1 614151 2440113|CGAP|BC059371|A/G|non-coding||2776|Validated; 2440116|CGAP|BC059371|A/T|non-coding||2712|Validated; 237605|dbSNP|BC002574|C/T|non-coding||3962|Validated; 247153|dbSNP|BC002574|C/T|non-coding||3972|Validated; 870480|dbSNP|BC002574|A/G|non-coding||3950|Validated; 1223415|dbSNP|BC002574|A/G|non-coding||3961|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.L350V c.1048T>G 16 74678291 BLCA A G 3-UTRSNV . c.2322+45T>C 16 74657784 CM A G Synonymous p.C254C c.762T>C 16 74683060 UCEC A G Synonymous p.S211S c.633T>C 16 74685906 CM C A Missense p.C307F c.920G>T 16 74678506 LUSC C A Missense p.G637V c.1910G>T 16 74662409 BRCA C A Missense p.M1I c.3G>T 16 74695345 LUSC C A Missense p.V204L c.610G>T 16 74685929 LUAD C A Missense p.V49L c.145G>T 16 74695203 DLBCL - CC IntronicInsertion . c.1577+32_1577+33dupGG 16 74666388 NSCLC C - Frameshift p.H309Ifs*39 c.924delG 16 74678502 LUAD C G Missense p.L117F c.351G>C 16 74694997 SCLC C T Missense p.E709K c.2125G>A 16 74660297 HNSC C T Missense p.G164R c.490G>A 16 74694858 UCEC C T Missense p.M594I c.1782G>A 16 74662537 LUAD C T Missense p.R306H c.917G>A 16 74678509 UCEC G A Missense p.A17V c.50C>T 16 74695298 HNSC G A Missense p.P50S c.148C>T 16 74695200 CM G A Missense p.S221F c.662C>T 16 74685877 BLCA G A Missense p.T111I c.332C>T 16 74695016 CM G A Nonsense p.Q183* c.547C>T 16 74685992 BLCA G A Nonsense p.Q37* c.109C>T 16 74695239 BLCA G A Nonsense p.Q470* c.1408C>T 16 74670262 BRCA G C Missense p.Q407E c.1219C>G 16 74670451 BRCA G T Missense p.L474I c.1420C>A 16 74670250 CM G T Synonymous p.R301R c.901C>A 16 74678525 ESCA T A IntronicSNV . c.1754+11A>T 16 74664668 NSCLC T A Missense p.Q19L c.56A>T 16 74695292 HNSC T C IntronicSNV . c.1-3894A>G 16 74699241 CLL T C Missense p.N486S c.1457A>G 16 74666541 LUSC T C Missense p.T718A c.2152A>G 16 74660270 HC T G SpliceAcceptorSNV . c.1195-2A>C 16 74670477 LUSC