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 1 33407925 33407925 + Missense_Mutation SNP G G A TCGA-OR-A5K5-01A-11D-A29I-10 TCGA-OR-A5K5-10A-01D-A29L-10 g.chr1:33407925G>A c.1541C>T c.(1540-1542)gCc>gTc p.A514V BLCA 1 33404102 33404102 + Missense_Mutation SNP C C G TCGA-DK-AA6Q-01A-11D-A391-08 TCGA-DK-AA6Q-10A-01D-A394-08 g.chr1:33404102C>G c.1641G>C c.(1639-1641)aaG>aaC p.K547N BLCA 1 33412160 33412160 + Missense_Mutation SNP G G A TCGA-DK-AA6L-01A-11D-A391-08 TCGA-DK-AA6L-10A-01D-A394-08 g.chr1:33412160G>A c.992C>T c.(991-993)tCt>tTt p.S331F BLCA 1 33415361 33415361 + Missense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr1:33415361G>A c.650C>T c.(649-651)gCc>gTc p.A217V BRCA 1 33429830 33429830 + Missense_Mutation SNP C C G TCGA-C8-A1HK-01A-21D-A13L-09 TCGA-C8-A1HK-10A-01D-A13O-09 g.chr1:33429830C>G c.457G>C c.(457-459)Gag>Cag p.E153Q CESC 1 33409700 33409700 + Missense_Mutation SNP C C T TCGA-C5-A1M8-01A-21D-A13W-08 TCGA-C5-A1M8-10A-01D-A13W-08 g.chr1:33409700C>T c.1325G>A c.(1324-1326)cGt>cAt p.R442H CHOL 1 33409664 33409664 + Missense_Mutation SNP T T G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr1:33409664T>G c.1361A>C c.(1360-1362)aAa>aCa p.K454T COAD 1 33404043 33404043 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:33404043C>T c.1700G>A c.(1699-1701)cGt>cAt p.R567H COAD 1 33407919 33407919 + Missense_Mutation SNP A A C TCGA-AA-3955-01A-02W-0995-10 TCGA-AA-3955-10A-01W-0995-10 g.chr1:33407919A>C c.1547T>G c.(1546-1548)tTt>tGt p.F516C COAD 1 33407933 33407933 + Silent SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:33407933G>A c.1533C>T c.(1531-1533)agC>agT p.S511S COAD 1 33409679 33409679 + Missense_Mutation SNP C C T TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr1:33409679C>T c.1346G>A c.(1345-1347)aGc>aAc p.S449N COAD 1 33409697 33409697 + Missense_Mutation SNP C C A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:33409697C>A c.1328G>T c.(1327-1329)gGa>gTa p.G443V COAD 1 33412110 33412110 + Missense_Mutation SNP G G T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr1:33412110G>T c.1042C>A c.(1042-1044)Ctt>Att p.L348I COADREAD 1 33404043 33404043 + Missense_Mutation SNP C C T TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:33404043C>T c.1700G>A c.(1699-1701)cGt>cAt p.R567H COADREAD 1 33407919 33407919 + Missense_Mutation SNP A A C TCGA-AA-3955-01A-02W-0995-10 TCGA-AA-3955-10A-01W-0995-10 g.chr1:33407919A>C c.1547T>G c.(1546-1548)tTt>tGt p.F516C COADREAD 1 33407933 33407933 + Silent SNP G G A TCGA-F4-6570-01A-11D-1771-10 TCGA-F4-6570-10A-01D-1771-10 g.chr1:33407933G>A c.1533C>T c.(1531-1533)agC>agT p.S511S COADREAD 1 33409679 33409679 + Missense_Mutation SNP C C T TCGA-DM-A1DA-01A-11D-A152-10 TCGA-DM-A1DA-10A-01D-A152-10 g.chr1:33409679C>T c.1346G>A c.(1345-1347)aGc>aAc p.S449N COADREAD 1 33409697 33409697 + Missense_Mutation SNP C C A TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr1:33409697C>A c.1328G>T c.(1327-1329)gGa>gTa p.G443V COADREAD 1 33412110 33412110 + Missense_Mutation SNP G G T TCGA-AA-3555-01A-01W-0831-10 TCGA-AA-3555-10A-01W-0831-10 g.chr1:33412110G>T c.1042C>A c.(1042-1044)Ctt>Att p.L348I COADREAD 1 33413875 33413875 + Missense_Mutation SNP A A T TCGA-AG-3898-01A-01W-1073-09 TCGA-AG-3898-10A-01W-1073-09 g.chr1:33413875A>T c.934T>A c.(934-936)Tgt>Agt p.C312S ESCA 1 33402751 33402751 + Missense_Mutation SNP C C T TCGA-JY-A939-01A-12D-A37C-09 TCGA-JY-A939-10A-01D-A37F-09 g.chr1:33402751C>T c.1855G>A c.(1855-1857)Gca>Aca p.A619T ESCA 1 33412075 33412075 + Silent SNP C C T TCGA-L5-A88V-01A-11D-A351-09 TCGA-L5-A88V-11A-11D-A351-09 g.chr1:33412075C>T c.1077G>A c.(1075-1077)gtG>gtA p.V359V ESCA 1 33412087 33412087 + Missense_Mutation SNP A A C TCGA-IG-A51D-01A-11D-A27G-09 TCGA-IG-A51D-10A-01D-A27G-09 g.chr1:33412087A>C c.1065T>G c.(1063-1065)atT>atG p.I355M GBM 1 33402782 33402782 + Silent SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 g.chr1:33402782C>T c.1824G>A c.(1822-1824)acG>acA p.T608T GBM 1 33408041 33408042 + Frame_Shift_Ins INS - - GC TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 g.chr1:33408041_33408042insGC c.1424_1425insGC c.(1423-1425)gccfs p.A475fs GBMLGG 1 33402666 33402666 + Missense_Mutation SNP C C T TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 g.chr1:33402666C>T c.1940G>A c.(1939-1941)tGc>tAc p.C647Y GBMLGG 1 33402782 33402782 + Silent SNP C C T TCGA-19-2623-01A-01D-1495-08 TCGA-19-2623-10A-01D-1495-08 g.chr1:33402782C>T c.1824G>A c.(1822-1824)acG>acA p.T608T GBMLGG 1 33408041 33408042 + Frame_Shift_Ins INS - - GC TCGA-41-3915-01A-01D-1353-08 TCGA-41-3915-10A-01D-1353-08 g.chr1:33408041_33408042insGC c.1424_1425insGC c.(1423-1425)gccfs p.A475fs GBMLGG 1 33411115 33411115 + Splice_Site SNP C C T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 g.chr1:33411115C>T c.1264G>A c.(1264-1266)Ggt>Agt p.G422S HNSC 1 33402524 33402524 + Silent SNP G G A TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 g.chr1:33402524G>A c.2082C>T c.(2080-2082)gcC>gcT p.A694A HNSC 1 33402809 33402809 + Missense_Mutation SNP G G T TCGA-T3-A92M-01A-31D-A391-08 TCGA-T3-A92M-10A-01D-A394-08 g.chr1:33402809G>T c.1797C>A c.(1795-1797)caC>caA p.H599Q KIPAN 1 33402518 33402518 + Frame_Shift_Del DEL G G - TCGA-BP-4991-01A-01D-1462-08 TCGA-BP-4991-11A-01D-1462-08 g.chr1:33402518delG c.2088delC c.(2086-2088)cccfs p.P696fs KIPAN 1 33402549 33402549 + Missense_Mutation SNP C C G TCGA-2Z-A9J3-01A-12D-A382-10 TCGA-2Z-A9J3-10A-01D-A385-10 g.chr1:33402549C>G c.2057G>C c.(2056-2058)gGc>gCc p.G686A KIPAN 1 33413940 33413940 + Missense_Mutation SNP C C T TCGA-CZ-4861-01A-01D-1373-10 TCGA-CZ-4861-11A-01D-1373-10 g.chr1:33413940C>T c.869G>A c.(868-870)tGc>tAc p.C290Y KIPAN 1 33415334 33415334 + Missense_Mutation SNP A A G TCGA-BP-5185-01A-01D-1429-08 TCGA-BP-5185-11A-01D-1429-08 g.chr1:33415334A>G c.677T>C c.(676-678)cTa>cCa p.L226P KIPAN 1 33429684 33429684 + Silent SNP G G T TCGA-Y8-A894-01A-11D-A35Z-10 TCGA-Y8-A894-10A-01D-A35Z-10 g.chr1:33429684G>T c.603C>A c.(601-603)ccC>ccA p.P201P KIRC 1 33402518 33402518 + Frame_Shift_Del DEL G G - TCGA-BP-4991-01A-01D-1462-08 TCGA-BP-4991-11A-01D-1462-08 g.chr1:33402518delG c.2088delC c.(2086-2088)cccfs p.P696fs KIRC 1 33413940 33413940 + Missense_Mutation SNP C C T TCGA-CZ-4861-01A-01D-1373-10 TCGA-CZ-4861-11A-01D-1373-10 g.chr1:33413940C>T c.869G>A c.(868-870)tGc>tAc p.C290Y KIRC 1 33415334 33415334 + Missense_Mutation SNP A A G TCGA-BP-5185-01A-01D-1429-08 TCGA-BP-5185-11A-01D-1429-08 g.chr1:33415334A>G c.677T>C c.(676-678)cTa>cCa p.L226P KIRP 1 33402549 33402549 + Missense_Mutation SNP C C G TCGA-2Z-A9J3-01A-12D-A382-10 TCGA-2Z-A9J3-10A-01D-A385-10 g.chr1:33402549C>G c.2057G>C c.(2056-2058)gGc>gCc p.G686A KIRP 1 33429684 33429684 + Silent SNP G G T TCGA-Y8-A894-01A-11D-A35Z-10 TCGA-Y8-A894-10A-01D-A35Z-10 g.chr1:33429684G>T c.603C>A c.(601-603)ccC>ccA p.P201P LGG 1 33402666 33402666 + Missense_Mutation SNP C C T TCGA-HT-7611-01A-11D-2395-08 TCGA-HT-7611-10B-01D-2396-08 g.chr1:33402666C>T c.1940G>A c.(1939-1941)tGc>tAc p.C647Y LGG 1 33411115 33411115 + Splice_Site SNP C C T TCGA-S9-A6TX-01A-21D-A32B-08 TCGA-S9-A6TX-10A-01D-A329-08 g.chr1:33411115C>T c.1264G>A c.(1264-1266)Ggt>Agt p.G422S LIHC 1 33430200 33430200 + Silent SNP C C T TCGA-G3-AAV0-01A-11D-A36X-10 TCGA-G3-AAV0-10A-01D-A370-10 g.chr1:33430200C>T c.87G>A c.(85-87)cgG>cgA p.R29R LUAD 1 33402416 33402416 + Silent SNP G G C TCGA-62-A471-01A-12D-A24D-08 TCGA-62-A471-10A-01D-A24F-08 g.chr1:33402416G>C c.2190C>G c.(2188-2190)gcC>gcG p.A730A LUAD 1 33402454 33402454 + Missense_Mutation SNP C C T TCGA-50-5044-01A-21D-1855-08 TCGA-50-5044-10A-01D-1855-08 g.chr1:33402454C>T c.2152G>A c.(2152-2154)Gag>Aag p.E718K LUAD 1 33402592 33402592 + Missense_Mutation SNP C C T TCGA-53-A4EZ-01A-12D-A24P-08 TCGA-53-A4EZ-10A-01D-A24P-08 g.chr1:33402592C>T c.2014G>A c.(2014-2016)Gca>Aca p.A672T LUAD 1 33402700 33402700 + Missense_Mutation SNP G G T TCGA-67-6217-01A-11D-1753-08 TCGA-67-6217-10A-01D-1753-08 g.chr1:33402700G>T c.1906C>A c.(1906-1908)Ccc>Acc p.P636T PAAD 1 33407890 33407890 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:33407890C>A c.1576G>T c.(1576-1578)Ggc>Tgc p.G526C PAAD 1 33409668 33409668 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:33409668C>T c.1357G>A c.(1357-1359)Gga>Aga p.G453R PAAD 1 33412058 33412058 + Missense_Mutation SNP G G T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr1:33412058G>T c.1094C>A c.(1093-1095)gCt>gAt p.A365D PRAD 1 33402616 33402616 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:33402616G>A c.1990C>T c.(1990-1992)Cgc>Tgc p.R664C READ 1 33413875 33413875 + Missense_Mutation SNP A A T TCGA-AG-3898-01A-01W-1073-09 TCGA-AG-3898-10A-01W-1073-09 g.chr1:33413875A>T c.934T>A c.(934-936)Tgt>Agt p.C312S SKCM 1 33402511 33402511 + Missense_Mutation SNP G G A TCGA-D9-A3Z1-06A-11D-A23B-08 TCGA-D9-A3Z1-10A-01D-A23B-08 g.chr1:33402511G>A c.2095C>T c.(2095-2097)Ccc>Tcc p.P699S SKCM 1 33402651 33402651 + Missense_Mutation SNP G G A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 g.chr1:33402651G>A c.1955C>T c.(1954-1956)cCt>cTt p.P652L SKCM 1 33402652 33402652 + Missense_Mutation SNP G G A TCGA-FS-A4F9-06A-11D-A24R-08 TCGA-FS-A4F9-10A-01D-A24R-08 g.chr1:33402652G>A c.1954C>T c.(1954-1956)Cct>Tct p.P652S SKCM 1 33402701 33402701 + Silent SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr1:33402701G>A c.1905C>T c.(1903-1905)ccC>ccT p.P635P SKCM 1 33402702 33402702 + Missense_Mutation SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr1:33402702G>T c.1904C>A c.(1903-1905)cCc>cAc p.P635H SKCM 1 33402703 33402703 + Missense_Mutation SNP G G T TCGA-D3-A51T-06A-11D-A25O-08 TCGA-D3-A51T-10A-01D-A25O-08 g.chr1:33402703G>T c.1903C>A c.(1903-1905)Ccc>Acc p.P635T SKCM 1 33402703 33402703 + Missense_Mutation SNP G G T TCGA-FS-A1ZS-06A-12D-A197-08 TCGA-FS-A1ZS-10A-01D-A199-08 g.chr1:33402703G>T c.1903C>A c.(1903-1905)Ccc>Acc p.P635T SKCM 1 33402777 33402777 + Missense_Mutation SNP T T C TCGA-EE-A2A2-06A-11D-A196-08 TCGA-EE-A2A2-10A-01D-A198-08 g.chr1:33402777T>C c.1829A>G c.(1828-1830)gAc>gGc p.D610G SKCM 1 33404090 33404090 + Silent SNP G G A TCGA-GN-A266-06A-11D-A197-08 TCGA-GN-A266-10A-01D-A199-08 g.chr1:33404090G>A c.1653C>T c.(1651-1653)ccC>ccT p.P551P SKCM 1 33408031 33408031 + Missense_Mutation SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr1:33408031G>A c.1435C>T c.(1435-1437)Ccc>Tcc p.P479S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 1 33402773 33402773 single base substitution C T 3_prime_UTR_variant ALL-US 1 33402773 33402773 single base substitution C T synonymous_variant S610S 1830G>A ALL-US 1 33402773 33402773 single base substitution C T synonymous_variant S611S 1833G>A BOCA-FR 1 33426300 33426300 single base substitution C T intron_variant BRCA-EU 1 33397451 33397451 single base substitution C A downstream_gene_variant BRCA-EU 1 33397756 33397756 single base substitution G A downstream_gene_variant BRCA-EU 1 33402335 33402335 single base substitution A G 3_prime_UTR_variant BRCA-EU 1 33402892 33402892 single base substitution T C intron_variant BRCA-EU 1 33402892 33402892 single base substitution T C synonymous_variant A587A 1761A>G BRCA-EU 1 33403155 33403155 single base substitution A G intron_variant BRCA-EU 1 33404146 33404146 single base substitution C T intron_variant BRCA-EU 1 33404537 33404537 single base substitution C T intron_variant BRCA-EU 1 33406953 33406953 single base substitution G A intron_variant BRCA-EU 1 33407077 33407077 single base substitution G A intron_variant BRCA-EU 1 33407078 33407078 single base substitution C A intron_variant BRCA-EU 1 33409029 33409029 single base substitution G A intron_variant BRCA-EU 1 33411332 33411332 single base substitution A G intron_variant BRCA-EU 1 33411333 33411333 single base substitution A G intron_variant BRCA-EU 1 33412130 33412130 single base substitution C G missense_variant W340S 1019G>C BRCA-EU 1 33412130 33412130 single base substitution C G missense_variant W341S 1022G>C BRCA-EU 1 33413824 33413824 single base substitution T C missense_variant S328G 982A>G BRCA-EU 1 33413824 33413824 single base substitution T C missense_variant S329G 985A>G BRCA-EU 1 33417793 33417793 single base substitution C T intron_variant BRCA-EU 1 33420632 33420632 single base substitution C A intron_variant BRCA-EU 1 33420717 33420717 single base substitution C T intron_variant BRCA-EU 1 33422480 33422480 single base substitution C A intron_variant BRCA-EU 1 33423170 33423170 single base substitution C G intron_variant BRCA-EU 1 33423633 33423633 single base substitution G C intron_variant BRCA-EU 1 33425193 33425193 single base substitution G T intron_variant BRCA-EU 1 33427234 33427234 deletion of <=200bp A - intron_variant BRCA-EU 1 33428069 33428072 deletion of <=200bp AAGT - intron_variant BRCA-EU 1 33430246 33430246 single base substitution G C missense_variant S14W 41C>G BRCA-EU 1 33431040 33431040 single base substitution C G upstream_gene_variant BRCA-EU 1 33432800 33432800 single base substitution C T upstream_gene_variant BRCA-EU 1 33433915 33433915 single base substitution G A upstream_gene_variant BRCA-FR 1 33397756 33397756 single base substitution G A downstream_gene_variant BRCA-FR 1 33407190 33407190 single base substitution G A intron_variant BRCA-FR 1 33423170 33423170 single base substitution C G intron_variant BRCA-FR 1 33425193 33425193 single base substitution G T intron_variant BRCA-KR 1 33411153 33411153 single base substitution G A missense_variant S408L 1223C>T BRCA-KR 1 33411153 33411153 single base substitution G A missense_variant S409L 1226C>T BRCA-UK 1 33402898 33402898 single base substitution G C intron_variant BRCA-UK 1 33402898 33402898 single base substitution G C missense_variant I585M 1755C>G BRCA-UK 1 33419626 33419626 single base substitution C T intron_variant BRCA-US 1 33429830 33429830 single base substitution C G missense_variant E153Q 457G>C BTCA-JP 1 33402791 33402791 single base substitution T A 3_prime_UTR_variant BTCA-JP 1 33402791 33402791 single base substitution T A synonymous_variant G604G 1812A>T BTCA-JP 1 33402791 33402791 single base substitution T A synonymous_variant G605G 1815A>T BTCA-JP 1 33407889 33407889 single base substitution C T missense_variant G525D 1574G>A BTCA-JP 1 33407889 33407889 single base substitution C T missense_variant G526D 1577G>A BTCA-JP 1 33414004 33414004 single base substitution C T intron_variant BTCA-JP 1 33429604 33429604 insertion of <=200bp - C intron_variant BTCA-JP 1 33430160 33430160 single base substitution C T missense_variant A43T 127G>A CESC-US 1 33409700 33409700 single base substitution C T missense_variant R441H 1322G>A CESC-US 1 33409700 33409700 single base substitution C T missense_variant R442H 1325G>A CLLE-ES 1 33403535 33403537 deletion of <=200bp AGA - intron_variant CLLE-ES 1 33408637 33408637 single base substitution G A intron_variant CLLE-ES 1 33419595 33419595 single base substitution T A intron_variant COAD-US 1 33404043 33404043 single base substitution C T missense_variant R566H 1697G>A COAD-US 1 33404043 33404043 single base substitution C T missense_variant R567H 1700G>A COAD-US 1 33407933 33407933 single base substitution G A synonymous_variant S510S 1530C>T COAD-US 1 33407933 33407933 single base substitution G A synonymous_variant S511S 1533C>T COAD-US 1 33409697 33409697 single base substitution C A missense_variant G442V 1325G>T COAD-US 1 33409697 33409697 single base substitution C A missense_variant G443V 1328G>T COCA-CN 1 33402767 33402767 single base substitution A G 3_prime_UTR_variant COCA-CN 1 33402767 33402767 single base substitution A G synonymous_variant H612H 1836T>C COCA-CN 1 33402767 33402767 single base substitution A G synonymous_variant H613H 1839T>C COCA-CN 1 33409693 33409693 single base substitution G A synonymous_variant G443G 1329C>T COCA-CN 1 33409693 33409693 single base substitution G A synonymous_variant G444G 1332C>T COCA-CN 1 33412125 33412125 single base substitution G A missense_variant R342C 1024C>T COCA-CN 1 33412125 33412125 single base substitution G A missense_variant R343C 1027C>T COCA-CN 1 33413808 33413808 single base substitution C T intron_variant COCA-CN 1 33417085 33417085 single base substitution A T intron_variant COCA-CN 1 33429567 33429567 single base substitution G T intron_variant EOPC-DE 1 33427545 33427545 single base substitution T C intron_variant ESAD-UK 1 33400559 33400559 single base substitution G A downstream_gene_variant ESAD-UK 1 33401180 33401180 single base substitution C T downstream_gene_variant ESAD-UK 1 33402437 33402437 single base substitution C G 3_prime_UTR_variant ESAD-UK 1 33402437 33402437 single base substitution C G missense_variant L722F 2166G>C ESAD-UK 1 33402437 33402437 single base substitution C G missense_variant L723F 2169G>C ESAD-UK 1 33402734 33402734 single base substitution T A 3_prime_UTR_variant ESAD-UK 1 33402734 33402734 single base substitution T A missense_variant E623D 1869A>T ESAD-UK 1 33402734 33402734 single base substitution T A missense_variant E624D 1872A>T ESAD-UK 1 33411297 33411297 single base substitution G T intron_variant ESAD-UK 1 33412989 33412989 single base substitution G C intron_variant ESAD-UK 1 33414304 33414304 single base substitution G C intron_variant ESAD-UK 1 33415163 33415163 single base substitution C T splice_region_variant ESAD-UK 1 33415708 33415708 single base substitution T C intron_variant ESAD-UK 1 33417875 33417875 single base substitution C G intron_variant ESAD-UK 1 33420775 33420775 single base substitution A G intron_variant ESAD-UK 1 33425174 33425174 single base substitution C T intron_variant ESAD-UK 1 33425735 33425735 single base substitution G C intron_variant ESAD-UK 1 33427379 33427379 single base substitution A G intron_variant ESAD-UK 1 33434317 33434317 single base substitution T C upstream_gene_variant ESCA-CN 1 33402463 33402463 single base substitution C A 3_prime_UTR_variant ESCA-CN 1 33402463 33402463 single base substitution C A missense_variant A714S 2140G>T ESCA-CN 1 33402463 33402463 single base substitution C A missense_variant A715S 2143G>T ESCA-CN 1 33404024 33404024 single base substitution T A synonymous_variant I572I 1716A>T ESCA-CN 1 33404024 33404024 single base substitution T A synonymous_variant I573I 1719A>T GBM-US 1 33402782 33402782 single base substitution C T 3_prime_UTR_variant GBM-US 1 33402782 33402782 single base substitution C T synonymous_variant T607T 1821G>A GBM-US 1 33402782 33402782 single base substitution C T synonymous_variant T608T 1824G>A GBM-US 1 33408041 33408041 insertion of <=200bp - GC frameshift_variant A474A? GBM-US 1 33408041 33408041 insertion of <=200bp - GC frameshift_variant A475A? KIRC-US 1 33402518 33402518 deletion of <=200bp G - 3_prime_UTR_variant KIRC-US 1 33402518 33402518 deletion of <=200bp G - frameshift_variant P695 KIRC-US 1 33402518 33402518 deletion of <=200bp G - frameshift_variant P696 KIRC-US 1 33413940 33413940 single base substitution C T missense_variant C289Y 866G>A KIRC-US 1 33413940 33413940 single base substitution C T missense_variant C290Y 869G>A KIRC-US 1 33415334 33415334 single base substitution A G missense_variant L226P 677T>C LAML-KR 1 33411357 33411357 single base substitution G C intron_variant LAML-KR 1 33431760 33431760 single base substitution C T upstream_gene_variant LGG-US 1 33402666 33402666 single base substitution C T 3_prime_UTR_variant LGG-US 1 33402666 33402666 single base substitution C T missense_variant C646Y 1937G>A LGG-US 1 33402666 33402666 single base substitution C T missense_variant C647Y 1940G>A LICA-FR 1 33408051 33408051 single base substitution G C missense_variant A471G 1412C>G LICA-FR 1 33408051 33408051 single base substitution G C missense_variant A472G 1415C>G LICA-FR 1 33412056 33412056 single base substitution C T missense_variant G365S 1093G>A LICA-FR 1 33412056 33412056 single base substitution C T missense_variant G366S 1096G>A LICA-FR 1 33427140 33427140 single base substitution T A intron_variant LICA-FR 1 33432032 33432032 insertion of <=200bp - A upstream_gene_variant LIHM-FR 1 33402910 33402910 single base substitution C T intron_variant LIHM-FR 1 33402910 33402910 single base substitution C T splice_region_variant LINC-JP 1 33402721 33402721 single base substitution C T 3_prime_UTR_variant LINC-JP 1 33402721 33402721 single base substitution C T missense_variant G628R 1882G>A LINC-JP 1 33402721 33402721 single base substitution C T missense_variant G629R 1885G>A LIRI-JP 1 33398230 33398230 single base substitution C A downstream_gene_variant LIRI-JP 1 33399373 33399373 single base substitution C T downstream_gene_variant LIRI-JP 1 33399883 33399883 single base substitution G A downstream_gene_variant LIRI-JP 1 33400366 33400366 single base substitution A T downstream_gene_variant LIRI-JP 1 33402314 33402314 single base substitution A C 3_prime_UTR_variant LIRI-JP 1 33403177 33403177 single base substitution G T intron_variant LIRI-JP 1 33403263 33403263 single base substitution T C intron_variant LIRI-JP 1 33403425 33403425 single base substitution A G intron_variant LIRI-JP 1 33406877 33406877 single base substitution G A intron_variant LIRI-JP 1 33408904 33408904 single base substitution A C intron_variant LIRI-JP 1 33412309 33412309 single base substitution G A intron_variant LIRI-JP 1 33413368 33413368 single base substitution A C intron_variant LIRI-JP 1 33413462 33413462 single base substitution A G intron_variant LIRI-JP 1 33413485 33413485 single base substitution G T intron_variant LIRI-JP 1 33414078 33414078 single base substitution A G intron_variant LIRI-JP 1 33416911 33416911 single base substitution C T intron_variant LIRI-JP 1 33421413 33421413 single base substitution T C intron_variant LIRI-JP 1 33422558 33422558 single base substitution C T intron_variant LIRI-JP 1 33424468 33424468 single base substitution C A intron_variant LIRI-JP 1 33425601 33425601 single base substitution G C intron_variant LIRI-JP 1 33425980 33425980 single base substitution G T intron_variant LIRI-JP 1 33426211 33426211 single base substitution T G intron_variant LIRI-JP 1 33427045 33427045 single base substitution T C intron_variant LIRI-JP 1 33427971 33427971 single base substitution A G intron_variant LIRI-JP 1 33428587 33428587 single base substitution T G intron_variant LIRI-JP 1 33430663 33430663 single base substitution C G upstream_gene_variant LIRI-JP 1 33430679 33430679 single base substitution G T upstream_gene_variant LUSC-KR 1 33406580 33406580 single base substitution G A intron_variant LUSC-KR 1 33409551 33409551 single base substitution C T intron_variant LUSC-KR 1 33412997 33412997 single base substitution G A intron_variant LUSC-KR 1 33412998 33412998 single base substitution C A intron_variant LUSC-KR 1 33415898 33415898 single base substitution C G intron_variant LUSC-KR 1 33419378 33419378 single base substitution T C intron_variant LUSC-KR 1 33419527 33419527 single base substitution G T intron_variant LUSC-KR 1 33427271 33427271 single base substitution G C intron_variant LUSC-KR 1 33428442 33428442 single base substitution C T intron_variant LUSC-KR 1 33429655 33429655 single base substitution C A missense_variant C211F 632G>T LUSC-KR 1 33434735 33434735 single base substitution G A upstream_gene_variant MALY-DE 1 33412112 33412112 single base substitution A G missense_variant I346T 1037T>C MALY-DE 1 33412112 33412112 single base substitution A G missense_variant I347T 1040T>C MALY-DE 1 33414416 33414416 single base substitution G A intron_variant MALY-DE 1 33423349 33423349 single base substitution C T intron_variant MALY-DE 1 33424528 33424528 single base substitution C T intron_variant MALY-DE 1 33428533 33428533 single base substitution T C intron_variant MALY-DE 1 33429764 33429764 single base substitution T C missense_variant I175V 523A>G MALY-DE 1 33429819 33429819 single base substitution C T synonymous_variant E156E 468G>A MALY-DE 1 33432496 33432496 insertion of <=200bp - A upstream_gene_variant MALY-DE 1 33433518 33433518 single base substitution C A upstream_gene_variant MALY-DE 1 33434525 33434525 single base substitution G T upstream_gene_variant MELA-AU 1 33397738 33397738 single base substitution G A downstream_gene_variant MELA-AU 1 33397767 33397767 single base substitution G A downstream_gene_variant MELA-AU 1 33398144 33398144 single base substitution A G downstream_gene_variant MELA-AU 1 33398717 33398717 single base substitution G A downstream_gene_variant MELA-AU 1 33399037 33399037 single base substitution A C downstream_gene_variant MELA-AU 1 33400433 33400433 single base substitution G A downstream_gene_variant MELA-AU 1 33400670 33400670 single base substitution A G downstream_gene_variant MELA-AU 1 33400791 33400791 single base substitution G A downstream_gene_variant MELA-AU 1 33401389 33401389 single base substitution C T downstream_gene_variant MELA-AU 1 33402700 33402700 single base substitution G A 3_prime_UTR_variant MELA-AU 1 33402700 33402700 single base substitution G A missense_variant P635S 1903C>T MELA-AU 1 33402700 33402700 single base substitution G A missense_variant P636S 1906C>T MELA-AU 1 33403072 33403072 single base substitution G A intron_variant MELA-AU 1 33403153 33403153 single base substitution A G intron_variant MELA-AU 1 33403941 33403941 single base substitution G A intron_variant MELA-AU 1 33404368 33404368 single base substitution C T intron_variant MELA-AU 1 33406599 33406599 single base substitution G A intron_variant MELA-AU 1 33407033 33407033 single base substitution T A intron_variant MELA-AU 1 33407581 33407582 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 33407737 33407737 single base substitution T C intron_variant MELA-AU 1 33407784 33407784 single base substitution G A intron_variant MELA-AU 1 33408031 33408031 single base substitution G A missense_variant P478S 1432C>T MELA-AU 1 33408031 33408031 single base substitution G A missense_variant P479S 1435C>T MELA-AU 1 33408524 33408524 single base substitution G A intron_variant MELA-AU 1 33408767 33408767 single base substitution G A intron_variant MELA-AU 1 33409236 33409236 single base substitution T C intron_variant MELA-AU 1 33409263 33409263 single base substitution C T intron_variant MELA-AU 1 33409499 33409499 single base substitution C T intron_variant MELA-AU 1 33409534 33409534 single base substitution A C intron_variant MELA-AU 1 33409586 33409586 single base substitution A G intron_variant MELA-AU 1 33409658 33409658 single base substitution A C missense_variant V455G 1364T>G MELA-AU 1 33409658 33409658 single base substitution A C missense_variant V456G 1367T>G MELA-AU 1 33410166 33410166 single base substitution G A intron_variant MELA-AU 1 33410805 33410805 single base substitution G A intron_variant MELA-AU 1 33411153 33411153 single base substitution G A missense_variant S408L 1223C>T MELA-AU 1 33411153 33411153 single base substitution G A missense_variant S409L 1226C>T MELA-AU 1 33411723 33411723 single base substitution T G intron_variant MELA-AU 1 33412275 33412275 single base substitution G C intron_variant MELA-AU 1 33412893 33412893 single base substitution A C intron_variant MELA-AU 1 33413798 33413798 single base substitution G A intron_variant MELA-AU 1 33413803 33413803 single base substitution G A intron_variant MELA-AU 1 33413934 33413934 single base substitution G A missense_variant A291V 872C>T MELA-AU 1 33413934 33413934 single base substitution G A missense_variant A292V 875C>T MELA-AU 1 33414113 33414113 single base substitution G A intron_variant MELA-AU 1 33414116 33414116 single base substitution G C intron_variant MELA-AU 1 33414243 33414243 single base substitution G A intron_variant MELA-AU 1 33415612 33415612 single base substitution G A intron_variant MELA-AU 1 33416088 33416089 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 1 33417336 33417336 single base substitution G A intron_variant MELA-AU 1 33419042 33419042 single base substitution G C intron_variant MELA-AU 1 33419613 33419613 single base substitution G A intron_variant MELA-AU 1 33419893 33419893 single base substitution G A intron_variant MELA-AU 1 33420796 33420796 single base substitution C T intron_variant MELA-AU 1 33420995 33420995 single base substitution C T intron_variant MELA-AU 1 33421034 33421034 single base substitution G A intron_variant MELA-AU 1 33421243 33421243 single base substitution A C intron_variant MELA-AU 1 33422327 33422327 single base substitution A G intron_variant MELA-AU 1 33422534 33422534 single base substitution C T intron_variant MELA-AU 1 33422725 33422725 single base substitution T C intron_variant MELA-AU 1 33422826 33422826 single base substitution G A intron_variant MELA-AU 1 33423356 33423356 single base substitution A G intron_variant MELA-AU 1 33423377 33423377 single base substitution G T intron_variant MELA-AU 1 33423999 33423999 single base substitution G A intron_variant MELA-AU 1 33425190 33425190 single base substitution G A intron_variant MELA-AU 1 33427784 33427785 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 33428467 33428467 single base substitution G A intron_variant MELA-AU 1 33429379 33429379 single base substitution C T intron_variant MELA-AU 1 33431320 33431320 single base substitution G A upstream_gene_variant MELA-AU 1 33431490 33431490 deletion of <=200bp T - upstream_gene_variant MELA-AU 1 33431637 33431637 single base substitution C T upstream_gene_variant MELA-AU 1 33431694 33431694 single base substitution T A upstream_gene_variant MELA-AU 1 33431840 33431841 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 1 33432506 33432506 single base substitution C T upstream_gene_variant MELA-AU 1 33432598 33432598 single base substitution G A upstream_gene_variant MELA-AU 1 33432678 33432678 single base substitution C T upstream_gene_variant MELA-AU 1 33433034 33433034 single base substitution C T upstream_gene_variant MELA-AU 1 33433086 33433086 single base substitution G A upstream_gene_variant MELA-AU 1 33433343 33433344 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 33433800 33433800 single base substitution G A upstream_gene_variant MELA-AU 1 33434175 33434175 single base substitution G A upstream_gene_variant MELA-AU 1 33434590 33434590 single base substitution C T upstream_gene_variant MELA-AU 1 33435099 33435099 single base substitution G A upstream_gene_variant ORCA-IN 1 33404628 33404628 single base substitution C T intron_variant OV-AU 1 33403622 33403622 single base substitution T A intron_variant OV-AU 1 33413296 33413296 single base substitution C A intron_variant OV-AU 1 33416548 33416548 single base substitution C G intron_variant OV-AU 1 33418116 33418116 single base substitution G T intron_variant OV-AU 1 33418579 33418579 single base substitution T G intron_variant OV-AU 1 33422549 33422549 single base substitution T C intron_variant OV-AU 1 33427581 33427581 single base substitution T G intron_variant OV-AU 1 33434012 33434012 single base substitution A G upstream_gene_variant PACA-AU 1 33401766 33401794 deletion of <=200bp TTGCTTCTAGAGGGCAAACAAAGTTAGTT - downstream_gene_variant PACA-AU 1 33407445 33407445 single base substitution T C intron_variant PACA-AU 1 33414434 33414434 single base substitution C T intron_variant PACA-AU 1 33426339 33426339 deletion of <=200bp A - intron_variant PACA-AU 1 33432505 33432505 single base substitution T C upstream_gene_variant PACA-AU 1 33433090 33433090 single base substitution T A upstream_gene_variant PACA-CA 1 33397358 33397358 single base substitution C T downstream_gene_variant PACA-CA 1 33398725 33398741 deletion of <=200bp TCCATGGGGACAGGAAC - downstream_gene_variant PACA-CA 1 33404566 33404566 single base substitution G T intron_variant PACA-CA 1 33405056 33405056 single base substitution T A intron_variant PACA-CA 1 33407421 33407421 single base substitution T G intron_variant PACA-CA 1 33412735 33412735 single base substitution C G intron_variant PACA-CA 1 33416717 33416717 single base substitution C T intron_variant PACA-CA 1 33422834 33422834 single base substitution G A intron_variant PACA-CA 1 33427595 33427595 single base substitution A C intron_variant PACA-CA 1 33429392 33429392 single base substitution C A intron_variant PACA-CA 1 33434415 33434415 single base substitution G T upstream_gene_variant PBCA-DE 1 33419612 33419612 single base substitution C T intron_variant PBCA-DE 1 33425375 33425375 insertion of <=200bp - A intron_variant PBCA-DE 1 33429384 33429384 single base substitution C A intron_variant PBCA-DE 1 33434949 33434949 insertion of <=200bp - T upstream_gene_variant PRAD-CA 1 33429331 33429331 single base substitution G A intron_variant RECA-EU 1 33405308 33405308 single base substitution C A intron_variant RECA-EU 1 33415528 33415528 single base substitution C T intron_variant RECA-EU 1 33433261 33433261 single base substitution T A upstream_gene_variant RECA-EU 1 33433745 33433745 single base substitution T G upstream_gene_variant SKCA-BR 1 33398872 33398872 single base substitution G T downstream_gene_variant SKCA-BR 1 33402222 33402222 single base substitution A T 3_prime_UTR_variant SKCA-BR 1 33402222 33402222 single base substitution A T downstream_gene_variant SKCA-BR 1 33403741 33403741 single base substitution C A intron_variant SKCA-BR 1 33403762 33403762 single base substitution G A intron_variant SKCA-BR 1 33407143 33407143 insertion of <=200bp - AAAAAT intron_variant SKCA-BR 1 33408528 33408528 single base substitution T G intron_variant SKCA-BR 1 33413084 33413084 single base substitution A C intron_variant SKCA-BR 1 33418030 33418035 deletion of <=200bp TAAAAA - intron_variant SKCA-BR 1 33424790 33424790 single base substitution G A intron_variant SKCA-BR 1 33429331 33429331 single base substitution G A intron_variant SKCA-BR 1 33429357 33429357 single base substitution A C intron_variant SKCA-BR 1 33429376 33429376 single base substitution T C intron_variant SKCA-BR 1 33429384 33429384 single base substitution C A intron_variant SKCA-BR 1 33435052 33435052 single base substitution A G upstream_gene_variant SKCM-US 1 33402511 33402511 single base substitution G A 3_prime_UTR_variant SKCM-US 1 33402511 33402511 single base substitution G A missense_variant P698S 2092C>T SKCM-US 1 33402511 33402511 single base substitution G A missense_variant P699S 2095C>T SKCM-US 1 33402701 33402701 single base substitution G A 3_prime_UTR_variant SKCM-US 1 33402701 33402701 single base substitution G A synonymous_variant P634P 1902C>T SKCM-US 1 33402701 33402701 single base substitution G A synonymous_variant P635P 1905C>T SKCM-US 1 33402703 33402703 single base substitution G T 3_prime_UTR_variant SKCM-US 1 33402703 33402703 single base substitution G T missense_variant P634T 1900C>A SKCM-US 1 33402703 33402703 single base substitution G T missense_variant P635T 1903C>A SKCM-US 1 33402777 33402777 single base substitution T C 3_prime_UTR_variant SKCM-US 1 33402777 33402777 single base substitution T C missense_variant D609G 1826A>G SKCM-US 1 33402777 33402777 single base substitution T C missense_variant D610G 1829A>G SKCM-US 1 33404090 33404090 single base substitution G A synonymous_variant P550P 1650C>T SKCM-US 1 33404090 33404090 single base substitution G A synonymous_variant P551P 1653C>T SKCM-US 1 33408031 33408031 single base substitution G A missense_variant P478S 1432C>T SKCM-US 1 33408031 33408031 single base substitution G A missense_variant P479S 1435C>T STAD-US 1 33402454 33402454 single base substitution C T 3_prime_UTR_variant STAD-US 1 33402454 33402454 single base substitution C T missense_variant E717K 2149G>A STAD-US 1 33402454 33402454 single base substitution C T missense_variant E718K 2152G>A STAD-US 1 33402512 33402512 single base substitution G T 3_prime_UTR_variant STAD-US 1 33402512 33402512 single base substitution G T synonymous_variant T697T 2091C>A STAD-US 1 33402512 33402512 single base substitution G T synonymous_variant T698T 2094C>A STAD-US 1 33402541 33402541 deletion of <=200bp G - 3_prime_UTR_variant STAD-US 1 33402541 33402541 deletion of <=200bp G - frameshift_variant R688 STAD-US 1 33402541 33402541 deletion of <=200bp G - frameshift_variant R689 STAD-US 1 33402626 33402626 single base substitution A G 3_prime_UTR_variant STAD-US 1 33402626 33402626 single base substitution A G synonymous_variant P659P 1977T>C STAD-US 1 33402626 33402626 single base substitution A G synonymous_variant P660P 1980T>C STAD-US 1 33402698 33402698 single base substitution G T 3_prime_UTR_variant STAD-US 1 33402698 33402698 single base substitution G T synonymous_variant P635P 1905C>A STAD-US 1 33402698 33402698 single base substitution G T synonymous_variant P636P 1908C>A STAD-US 1 33404024 33404024 single base substitution T C missense_variant I572M 1716A>G STAD-US 1 33404024 33404024 single base substitution T C missense_variant I573M 1719A>G STAD-US 1 33407887 33407887 single base substitution C T missense_variant G526S 1576G>A STAD-US 1 33407887 33407887 single base substitution C T missense_variant G527S 1579G>A STAD-US 1 33407927 33407927 single base substitution C T synonymous_variant T512T 1536G>A STAD-US 1 33407927 33407927 single base substitution C T synonymous_variant T513T 1539G>A STAD-US 1 33411121 33411121 single base substitution T C missense_variant S419G 1255A>G STAD-US 1 33411121 33411121 single base substitution T C missense_variant S420G 1258A>G STAD-US 1 33411153 33411153 single base substitution G A missense_variant S408L 1223C>T STAD-US 1 33411153 33411153 single base substitution G A missense_variant S409L 1226C>T STAD-US 1 33413904 33413904 single base substitution C T missense_variant C301Y 902G>A STAD-US 1 33413904 33413904 single base substitution C T missense_variant C302Y 905G>A STAD-US 1 33415365 33415365 single base substitution T C missense_variant I216V 646A>G THCA-SA 1 33430102 33430102 single base substitution T G missense_variant Q62P 185A>C UCEC-US 1 33402720 33402720 single base substitution C T 3_prime_UTR_variant UCEC-US 1 33402720 33402720 single base substitution C T missense_variant G628E 1883G>A UCEC-US 1 33402720 33402720 single base substitution C T missense_variant G629E 1886G>A UCEC-US 1 33402734 33402734 single base substitution T G 3_prime_UTR_variant UCEC-US 1 33402734 33402734 single base substitution T G missense_variant E623D 1869A>C UCEC-US 1 33402734 33402734 single base substitution T G missense_variant E624D 1872A>C UCEC-US 1 33407869 33407869 single base substitution T C missense_variant K532E 1594A>G UCEC-US 1 33407869 33407869 single base substitution T C missense_variant K533E 1597A>G UCEC-US 1 33415182 33415182 single base substitution C A stop_gained E277* 829G>T UCEC-US 1 33415339 33415339 single base substitution C T synonymous_variant P224P 672G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BR-A4IU-01 COSM534895 c.1579G>A p.E527K Substitution - Missense 1:32936853-32936853 - S00501 COSM5701040 c.1098_1099insT p.G367fs*4 Insertion - Frameshift 1:32938470-32938471 - CHC1745T COSM4805890 c.842C>G p.A281G Substitution - Missense 1:32942450-32942450 - 188 COSM1741532 c.388G>C p.E130Q Substitution - Missense 1:32948247-32948247 - TCGA-A3-3365-01 COSM464455 c.1352G>C p.C451S Substitution - Missense 1:32937080-32937080 - TCGA-B5-A121-01 COSM908380 c.99G>A p.P33P Substitution - coding silent 1:32949738-32949738 - TCGA-19-2623-01 COSM3400687 c.1251G>A p.T417T Substitution - coding silent 1:32937181-32937181 - LP2000331-DNA_A01 COSM5952558 c.268+7G>A p.? Unknown 1:32949562-32949562 - TCGA-HT-7611-01 COSM3966530 c.1367G>A p.C456Y Substitution - Missense 1:32937065-32937065 - TCGA-FS-A1ZS-06 COSM3488250 c.1330C>A p.P444T Substitution - Missense 1:32937102-32937102 - CHC218T COSM4800978 c.523G>A p.G175S Substitution - Missense 1:32946455-32946455 - TCGA-BR-8485-01 COSM4031557 c.966G>A p.T322T Substitution - coding silent 1:32942326-32942326 - 436 COSM4433988 c.563A>T p.Y188F Substitution - Missense 1:32946415-32946415 - TCGA-BR-7851-01 COSM4031555 c.1006G>A p.G336S Substitution - Missense 1:32942286-32942286 - TCGA-GN-A266-06 COSM3488252 c.1080C>T p.P360P Substitution - coding silent 1:32938489-32938489 - TCGA-BR-6802-01 COSM4031559 c.685A>G p.S229G Substitution - Missense 1:32945520-32945520 - TCGA-D9-A3Z1-06 COSM3488248 c.1522C>T p.P508S Substitution - Missense 1:32936910-32936910 - PD4836a COSM5781461 c.449G>C p.W150S Substitution - Missense 1:32946529-32946529 - TCGA-BR-8363-01 COSM4031549 c.1521C>A p.T507T Substitution - coding silent 1:32936911-32936911 - TCGA-A5-A0GP-01 COSM908376 c.1024A>G p.K342E Substitution - Missense 1:32942268-32942268 - 46M COSM5588828 c.1068G>A p.K356K Substitution - coding silent 1:32938501-32938501 - C086 COSM4477142 c.1554C>T p.A518A Substitution - coding silent 1:32936878-32936878 - YUHEF COSM1687349 c.1162C>T p.P388S Substitution - Missense 1:32938407-32938407 - BD114T COSM5502213 c.1004G>A p.G335D Substitution - Missense 1:32942288-32942288 - TCGA-BR-8591-01 COSM4031563 c.332G>A p.C111Y Substitution - Missense 1:32948303-32948303 - T368 COSM2078505 c.1335delC p.C446fs*31 Deletion - Frameshift 1:32937097-32937097 - ACINAR01 COSM1734280 c.1298_1300delAAG p.E433delE Deletion - In frame 1:32937132-32937134 - BRC11 COSM5025238 c.312C>T p.I104I Substitution - coding silent 1:32948323-32948323 - CHC218T COSM4800978 c.523G>A p.G175S Substitution - Missense 1:32946455-32946455 - KPOPBR-34-T COSM4031561 c.653C>T p.S218L Substitution - Missense 1:32945552-32945552 - LC_C9 COSM1185399 c.1502C>T p.T501I Substitution - Missense 1:32936930-32936930 - NCI-H322M COSM1194922 c.1291G>A p.E431K Substitution - Missense 1:32937141-32937141 - H322T COSM1194922 c.1291G>A p.E431K Substitution - Missense 1:32937141-32937141 - TCGA-A5-A0G5-01 COSM908373 c.1313G>A p.G438E Substitution - Missense 1:32937119-32937119 - TCGA-FS-A1ZZ-06 COSM3488249 c.1332C>T p.P444P Substitution - coding silent 1:32937100-32937100 - CHC1745T COSM4805890 c.842C>G p.A281G Substitution - Missense 1:32942450-32942450 - TCGA-F4-6570-01 COSM1341876 c.960C>T p.S320S Substitution - coding silent 1:32942332-32942332 - CSCC-45-T COSM4567336 c.97_98CC>TT p.P33L Substitution - Missense 1:32949739-32949740 - CSCC-35-T COSM4477142 c.1554C>T p.A518A Substitution - coding silent 1:32936878-32936878 - TCGA-CM-5861-01 COSM1341881 c.755G>T p.G252V Substitution - Missense 1:32944096-32944096 - FM403T COSM673784 c.691G>T p.G231C Substitution - Missense 1:32945514-32945514 - TCGA-C5-A1M8-01 COSM4837317 c.752G>A p.R251H Substitution - Missense 1:32944099-32944099 - PD4772a COSM3719199 c.1145T>G p.I382R Substitution - Missense 1:32938424-32938424 - TCGA-HU-A4H4-01 COSM4031553 c.1146A>G p.I382M Substitution - Missense 1:32938423-32938423 - TCGA-BR-6852-01 COSM4031550 c.1407T>C p.P469P Substitution - coding silent 1:32937025-32937025 - BN24T COSM1602228 c.1312G>A p.G438R Substitution - Missense 1:32937120-32937120 - TCGA-BR-7851-01 COSM4031551 c.1335C>A p.P445P Substitution - coding silent 1:32937097-32937097 - YUKAT COSM5380676 c.78C>T p.A26A Substitution - coding silent 1:32949759-32949759 - Sample_1 COSM5021269 c.1518G>A p.S506S Substitution - coding silent 1:32936914-32936914 - CRC-15T COSM5468664 c.759C>T p.G253G Substitution - coding silent 1:32944092-32944092 - TCGA-BR-8487-01 COSM4031561 c.653C>T p.S218L Substitution - Missense 1:32945552-32945552 - ESCC_161 COSM5647505 c.322G>C p.D108H Substitution - Missense 1:32948313-32948313 - SC_9028 COSM5570297 c.1520C>T p.T507I Substitution - Missense 1:32936912-32936912 - sysucc-311T COSM5478503 c.1266T>C p.H422H Substitution - coding silent 1:32937166-32937166 - BHY COSM2078501 c.1517C>T p.S506L Substitution - Missense 1:32936915-32936915 - TCGA-BG-A0VZ-01 COSM908374 c.1299A>C p.E433D Substitution - Missense 1:32937133-32937133 - 702TS COSM673786 c.269-5C>G p.? Unknown 1:32948371-32948371 - TCGA-BP-5185-01 COSM464457 c.104T>C p.L35P Substitution - Missense 1:32949733-32949733 - TCGA-AG-3898-01 COSM258722 c.361T>A p.C121S Substitution - Missense 1:32948274-32948274 - 587376 COSM1223952 c.1000A>G p.S334G Substitution - Missense 1:32942292-32942292 - BD236T COSM5518134 c.1242A>T p.G414G Substitution - coding silent 1:32937190-32937190 - S01022 COSM5665585 c.1579G>T p.E527* Substitution - Nonsense 1:32936853-32936853 - S0029 COSM5881730 c.889G>T p.G297C Substitution - Missense 1:32942403-32942403 - PASFXA COSM5006010 c.1260G>A p.S420S Substitution - coding silent 1:32937172-32937172 - TCGA-CG-5721-01 COSM4031565 c.73A>G p.I25V Substitution - Missense 1:32949764-32949764 - PT55 COSM5222103 c.1173-6C>T p.? Unknown 1:32937265-32937265 - ESCC_BICR_061T COSM5430719 c.1146A>T p.I382I Substitution - coding silent 1:32938423-32938423 - H1155 COSM1195132 c.350C>T p.A117V Substitution - Missense 1:32948285-32948285 - TCGA-EE-A2A2-06 COSM3865340 c.1256A>G p.D419G Substitution - Missense 1:32937176-32937176 - TCGA-BS-A0UV-01 COSM908378 c.256G>T p.E86* Substitution - Nonsense 1:32949581-32949581 - NYU321 COSM4770915 c.863C>T p.P288L Substitution - Missense 1:32942429-32942429 - ESCC_BICR_027T COSM5443175 c.1570G>T p.A524S Substitution - Missense 1:32936862-32936862 - TCGA-CZ-4861-01 COSM3360852 c.296G>A p.C99Y Substitution - Missense 1:32948339-32948339 - T3152 COSM4722074 c.236C>T p.S79L Substitution - Missense 1:32949601-32949601 - PT33 COSM5908003 c.1084G>A p.D362N Substitution - Missense 1:32938485-32938485 - Pat_45_B COSM5846419 c.670G>A p.V224I Substitution - Missense 1:32945535-32945535 - ESCC_25 COSM5626527 c.986C>G p.S329* Substitution - Nonsense 1:32942306-32942306 - TCGA-AZ-4315-01 COSM1341872 c.1127G>A p.R376H Substitution - Missense 1:32938442-32938442 - BN24 COSM1602228 c.1312G>A p.G438R Substitution - Missense 1:32937120-32937120 - TCGA-EE-A3AA-06 COSM3865342 c.862C>T p.P288S Substitution - Missense 1:32942430-32942430 - SNU-175 COSM2078502 c.1496C>T p.S499F Substitution - Missense 1:32936936-32936936 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.591504 1p35.1 610872

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.F516C c.1547T>G 1 33407919 COREAD A G Missense p.L226P c.677T>C 1 33415334 RCCC A G Synonymous p.A568A c.1704T>C 1 33404039 CM A G Synonymous p.P660P c.1980T>C 1 33402626 STAD A T Missense p.C312S c.934T>A 1 33413875 COREAD C T Missense p.C290Y c.869G>A 1 33413940 RCCC C T Missense p.E718K c.2152G>A 1 33402454 LUAD C T Missense p.G232D c.695G>A 1 33415316 THCA C T Missense p.G629E c.1886G>A 1 33402720 UCEC C T Synonymous p.P224P c.672G>A 1 33415339 UCEC C T Synonymous p.T608T c.1824G>A 1 33402782 GBM G A IntronicSNV . c.1406-577C>T 1 33408637 CLL G A Missense p.P479S c.1435C>T 1 33408031 CM G A Missense p.P499S c.1495C>T 1 33407971 CM G A Synonymous p.A694A c.2082C>T 1 33402524 HNSC G A Synonymous p.I295I c.885C>T 1 33413924 BRCA G A Synonymous p.P635P c.1905C>T 1 33402701 CM - GC Frameshift p.A475Gfs*16 c.1423_1424insGC 1 33408042 GBM G C IntronicSNV . c.1746-38C>G 1 33402898 BRCA G C Missense p.T261S c.782C>G 1 33415229 LUAD G - Frameshift p.S697Rfs*15 c.2088delC 1 33402518 RCCC G T Missense p.P635T c.1903C>A 1 33402703 CM G T Missense p.P636T c.1906C>A 1 33402700 LUAD T C Missense p.D610G c.1829A>G 1 33402777 CM T C Missense p.K533E c.1597A>G 1 33407869 UCEC T C Missense p.S420G c.1258A>G 1 33411121 STAD T G Missense p.E624D c.1872A>C 1 33402734 UCEC