Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 21 30403041 30403041 + Missense_Mutation SNP G G C TCGA-XF-A9SM-01A-11D-A42E-08 TCGA-XF-A9SM-10A-01D-A42H-08 g.chr21:30403041G>C c.187G>C c.(187-189)Gaa>Caa p.E63Q BLCA 21 30414378 30414378 + Missense_Mutation SNP T T C TCGA-DK-AA6S-01A-21D-A391-08 TCGA-DK-AA6S-10A-01D-A394-08 g.chr21:30414378T>C c.1075T>C c.(1075-1077)Ttt>Ctt p.F359L BLCA 21 30419060 30419060 + Missense_Mutation SNP G G C TCGA-G2-A3VY-01A-11D-A22Z-08 TCGA-G2-A3VY-10A-01D-A22Z-08 g.chr21:30419060G>C c.1429G>C c.(1429-1431)Gaa>Caa p.E477Q BLCA 21 30419526 30419526 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr21:30419526C>T c.1895C>T c.(1894-1896)tCa>tTa p.S632L BLCA 21 30419563 30419563 + Missense_Mutation SNP G G C TCGA-XF-AAML-01A-11D-A42E-08 TCGA-XF-AAML-10A-01D-A42H-08 g.chr21:30419563G>C c.1932G>C c.(1930-1932)gaG>gaC p.E644D BLCA 21 30426152 30426152 + IGR SNP C C G TCGA-GD-A6C6-01A-21D-A31L-08 TCGA-GD-A6C6-10A-01D-A31J-08 g.chr21:30426152C>G BLCA 21 30426392 30426392 + IGR SNP G G A TCGA-FD-A5BT-01A-11D-A26M-08 TCGA-FD-A5BT-10A-01D-A26K-08 g.chr21:30426392G>A BRCA 21 30411428 30411428 + Frame_Shift_Del DEL A A - TCGA-BH-A0HA-01A-11D-A12Q-09 TCGA-BH-A0HA-11A-31D-A12Q-09 g.chr21:30411428delA c.814delA c.(814-816)aaafs p.K273fs COAD 21 30409677 30409677 + Missense_Mutation SNP A A G TCGA-AA-3520-01A-01W-0831-10 TCGA-AA-3520-10A-01W-0831-10 g.chr21:30409677A>G c.529A>G c.(529-531)Aag>Gag p.K177E COAD 21 30411452 30411452 + Nonsense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr21:30411452G>T c.838G>T c.(838-840)Gaa>Taa p.E280* COAD 21 30412971 30412971 + Silent SNP T T G TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr21:30412971T>G c.993T>G c.(991-993)acT>acG p.T331T COAD 21 30415812 30415812 + Silent SNP G G A TCGA-AA-3681-01A-01W-0900-09 TCGA-AA-3681-10A-01W-0900-09 g.chr21:30415812G>A c.1248G>A c.(1246-1248)gaG>gaA p.E416E COAD 21 30419139 30419139 + Missense_Mutation SNP T T C TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr21:30419139T>C c.1508T>C c.(1507-1509)gTt>gCt p.V503A COAD 21 30419139 30419139 + Missense_Mutation SNP T T C TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr21:30419139T>C c.1508T>C c.(1507-1509)gTt>gCt p.V503A COAD 21 30419139 30419139 + Missense_Mutation SNP T T C TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr21:30419139T>C c.1508T>C c.(1507-1509)gTt>gCt p.V503A COAD 21 30419140 30419140 + Silent SNP T T A TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr21:30419140T>A c.1509T>A c.(1507-1509)gtT>gtA p.V503V COAD 21 30419148 30419148 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr21:30419148A>C c.1517A>C c.(1516-1518)aAa>aCa p.K506T COAD 21 30419553 30419553 + Missense_Mutation SNP C C T TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chr21:30419553C>T c.1922C>T c.(1921-1923)aCc>aTc p.T641I COAD 21 30422428 30422428 + Missense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr21:30422428C>T c.2122C>T c.(2122-2124)Cgc>Tgc p.R708C COAD 21 30426459 30426459 + IGR SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr21:30426459A>C COADREAD 21 30409677 30409677 + Missense_Mutation SNP A A G TCGA-AA-3520-01A-01W-0831-10 TCGA-AA-3520-10A-01W-0831-10 g.chr21:30409677A>G c.529A>G c.(529-531)Aag>Gag p.K177E COADREAD 21 30411452 30411452 + Nonsense_Mutation SNP G G T TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr21:30411452G>T c.838G>T c.(838-840)Gaa>Taa p.E280* COADREAD 21 30412971 30412971 + Silent SNP T T G TCGA-D5-6535-01A-11D-1719-10 TCGA-D5-6535-10A-01D-1719-10 g.chr21:30412971T>G c.993T>G c.(991-993)acT>acG p.T331T COADREAD 21 30415812 30415812 + Silent SNP G G A TCGA-AA-3681-01A-01W-0900-09 TCGA-AA-3681-10A-01W-0900-09 g.chr21:30415812G>A c.1248G>A c.(1246-1248)gaG>gaA p.E416E COADREAD 21 30419139 30419139 + Missense_Mutation SNP T T C TCGA-AU-6004-01A-11D-1719-10 TCGA-AU-6004-10A-01D-1719-10 g.chr21:30419139T>C c.1508T>C c.(1507-1509)gTt>gCt p.V503A COADREAD 21 30419139 30419139 + Missense_Mutation SNP T T C TCGA-AY-5543-01A-01D-1650-10 TCGA-AY-5543-10A-01D-1650-10 g.chr21:30419139T>C c.1508T>C c.(1507-1509)gTt>gCt p.V503A COADREAD 21 30419139 30419139 + Missense_Mutation SNP T T C TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr21:30419139T>C c.1508T>C c.(1507-1509)gTt>gCt p.V503A COADREAD 21 30419140 30419140 + Silent SNP T T A TCGA-CM-5344-01A-21D-1719-10 TCGA-CM-5344-10A-01D-1719-10 g.chr21:30419140T>A c.1509T>A c.(1507-1509)gtT>gtA p.V503V COADREAD 21 30419148 30419148 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr21:30419148A>C c.1517A>C c.(1516-1518)aAa>aCa p.K506T COADREAD 21 30419553 30419553 + Missense_Mutation SNP C C T TCGA-D5-5538-01A-01D-1650-10 TCGA-D5-5538-10A-02D-1650-10 g.chr21:30419553C>T c.1922C>T c.(1921-1923)aCc>aTc p.T641I COADREAD 21 30422428 30422428 + Missense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr21:30422428C>T c.2122C>T c.(2122-2124)Cgc>Tgc p.R708C COADREAD 21 30426459 30426459 + IGR SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr21:30426459A>C COADREAD 21 30426503 30426503 + IGR SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:30426503C>A ESCA 21 30402977 30402977 + Silent SNP G G T TCGA-L5-A893-01A-11D-A36J-09 TCGA-L5-A893-11A-21D-A36M-09 g.chr21:30402977G>T c.123G>T c.(121-123)gtG>gtT p.V41V ESCA 21 30410683 30410683 + Missense_Mutation SNP G G C TCGA-Z6-AAPN-01A-11D-A403-09 TCGA-Z6-AAPN-10A-01D-A403-09 g.chr21:30410683G>C c.664G>C c.(664-666)Gaa>Caa p.E222Q ESCA 21 30411852 30411852 + Missense_Mutation SNP G G A TCGA-L5-A8NK-01A-21D-A37C-09 TCGA-L5-A8NK-11A-11D-A37F-09 g.chr21:30411852G>A c.914G>A c.(913-915)cGc>cAc p.R305H ESCA 21 30426152 30426152 + IGR SNP C C G TCGA-L5-A43E-01A-11D-A247-09 TCGA-L5-A43E-10A-01D-A247-09 g.chr21:30426152C>G GBM 21 30409731 30409731 + Missense_Mutation SNP G G A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 g.chr21:30409731G>A c.583G>A c.(583-585)Gtg>Atg p.V195M GBMLGG 21 30409731 30409731 + Missense_Mutation SNP G G A TCGA-12-5301-01A-01D-1486-08 TCGA-12-5301-10A-01D-1486-08 g.chr21:30409731G>A c.583G>A c.(583-585)Gtg>Atg p.V195M GBMLGG 21 30419419 30419419 + Silent SNP T T C TCGA-HT-7884-01B-11D-2395-08 TCGA-HT-7884-10A-01D-2396-08 g.chr21:30419419T>C c.1788T>C c.(1786-1788)aaT>aaC p.N596N GBMLGG 21 30426427 30426427 + IGR SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:30426427C>T HNSC 21 30403060 30403060 + Missense_Mutation SNP C C T TCGA-HD-A6HZ-01A-12D-A31L-08 TCGA-HD-A6HZ-10A-01D-A31J-08 g.chr21:30403060C>T c.206C>T c.(205-207)cCt>cTt p.P69L HNSC 21 30414333 30414333 + Splice_Site SNP G G C TCGA-TN-A7HL-01A-11D-A34J-08 TCGA-TN-A7HL-10A-01D-A34M-08 g.chr21:30414333G>C c.e12-1 HNSC 21 30419482 30419482 + Missense_Mutation SNP C C A TCGA-CV-6962-01A-11D-1912-08 TCGA-CV-6962-10A-01D-1912-08 g.chr21:30419482C>A c.1851C>A c.(1849-1851)ttC>ttA p.F617L HNSC 21 30426392 30426392 + IGR SNP G G C TCGA-CV-A45P-01A-11D-A24D-08 TCGA-CV-A45P-10A-01D-A24F-08 g.chr21:30426392G>C KICH 21 30409627 30409627 + Missense_Mutation SNP A A G TCGA-KO-8407-01A-11D-2310-10 TCGA-KO-8407-11A-01D-2311-10 g.chr21:30409627A>G c.479A>G c.(478-480)gAa>gGa p.E160G KIPAN 21 30409627 30409627 + Missense_Mutation SNP A A G TCGA-KO-8407-01A-11D-2310-10 TCGA-KO-8407-11A-01D-2311-10 g.chr21:30409627A>G c.479A>G c.(478-480)gAa>gGa p.E160G KIPAN 21 30415852 30415852 + Missense_Mutation SNP G G T TCGA-BP-5202-01A-02D-1429-08 TCGA-BP-5202-11A-01D-1429-08 g.chr21:30415852G>T c.1288G>T c.(1288-1290)Gat>Tat p.D430Y KIRC 21 30415852 30415852 + Missense_Mutation SNP G G T TCGA-BP-5202-01A-02D-1429-08 TCGA-BP-5202-11A-01D-1429-08 g.chr21:30415852G>T c.1288G>T c.(1288-1290)Gat>Tat p.D430Y LGG 21 30419419 30419419 + Silent SNP T T C TCGA-HT-7884-01B-11D-2395-08 TCGA-HT-7884-10A-01D-2396-08 g.chr21:30419419T>C c.1788T>C c.(1786-1788)aaT>aaC p.N596N LGG 21 30426427 30426427 + IGR SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr21:30426427C>T LIHC 21 30409650 30409650 + Missense_Mutation SNP A A G TCGA-G3-A3CJ-01A-11D-A20W-10 TCGA-G3-A3CJ-10A-01D-A20W-10 g.chr21:30409650A>G c.502A>G c.(502-504)Agt>Ggt p.S168G LIHC 21 30409652 30409652 + Silent SNP T T C TCGA-2Y-A9GZ-01A-11D-A38X-10 TCGA-2Y-A9GZ-10A-01D-A38X-10 g.chr21:30409652T>C c.504T>C c.(502-504)agT>agC p.S168S LUAD 21 30400249 30400249 + Silent SNP G G A TCGA-17-Z045-01A-01W-0746-08 TCGA-17-Z045-11A-01W-0747-08 g.chr21:30400249G>A c.15G>A c.(13-15)cgG>cgA p.R5R LUAD 21 30403014 30403014 + Missense_Mutation SNP G G T TCGA-44-6774-01A-21D-1855-08 TCGA-44-6774-10A-01D-1855-08 g.chr21:30403014G>T c.160G>T c.(160-162)Gac>Tac p.D54Y LUAD 21 30407158 30407158 + Splice_Site SNP G G T TCGA-62-A46O-01A-11D-A24D-08 TCGA-62-A46O-10A-01D-A24F-08 g.chr21:30407158G>T c.241G>T c.(241-243)Ggc>Tgc p.G81C LUAD 21 30411359 30411359 + Missense_Mutation SNP A A G TCGA-44-7660-01A-11D-2063-08 TCGA-44-7660-10A-01D-2063-08 g.chr21:30411359A>G c.745A>G c.(745-747)Ata>Gta p.I249V LUAD 21 30421097 30421097 + Missense_Mutation SNP T T G TCGA-17-Z027-01A-01W-0746-08 TCGA-17-Z027-11A-01W-0746-08 g.chr21:30421097T>G c.2027T>G c.(2026-2028)gTt>gGt p.V676G LUSC 21 30402967 30402967 + Missense_Mutation SNP A A G TCGA-66-2768-01A-01D-1522-08 TCGA-66-2768-11A-01D-1522-08 g.chr21:30402967A>G c.113A>G c.(112-114)aAg>aGg p.K38R LUSC 21 30402983 30402983 + Silent SNP G G T TCGA-43-3920-01A-01D-0983-08 TCGA-43-3920-10A-01D-0983-08 g.chr21:30402983G>T c.129G>T c.(127-129)gtG>gtT p.V43V LUSC 21 30403061 30403061 + Silent SNP T T C TCGA-22-4591-01A-01D-1267-08 TCGA-22-4591-11A-01D-1267-08 g.chr21:30403061T>C c.207T>C c.(205-207)ccT>ccC p.P69P LUSC 21 30419000 30419000 + Nonsense_Mutation SNP C C T TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 g.chr21:30419000C>T c.1369C>T c.(1369-1371)Caa>Taa p.Q457* PAAD 21 30419159 30419159 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:30419159G>A c.1528G>A c.(1528-1530)Gtc>Atc p.V510I PAAD 21 30419482 30419482 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr21:30419482C>A c.1851C>A c.(1849-1851)ttC>ttA p.F617L PRAD 21 30411465 30411465 + Missense_Mutation SNP A A G TCGA-G9-6384-01A-11D-1786-08 TCGA-G9-6384-10A-01D-1786-08 g.chr21:30411465A>G c.851A>G c.(850-852)cAg>cGg p.Q284R PRAD 21 30415788 30415788 + Silent SNP G G T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr21:30415788G>T c.1224G>T c.(1222-1224)gtG>gtT p.V408V READ 21 30426503 30426503 + IGR SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr21:30426503C>A SKCM 21 30400247 30400247 + Missense_Mutation SNP C C T TCGA-EE-A2MI-06A-11D-A197-08 TCGA-EE-A2MI-10A-01D-A199-08 g.chr21:30400247C>T c.13C>T c.(13-15)Cgg>Tgg p.R5W SKCM 21 30409680 30409680 + Missense_Mutation SNP G G A TCGA-FS-A1ZQ-06A-11D-A197-08 TCGA-FS-A1ZQ-10A-01D-A199-08 g.chr21:30409680G>A c.532G>A c.(532-534)Gaa>Aaa p.E178K SKCM 21 30409701 30409701 + Missense_Mutation SNP C C T TCGA-GF-A6C9-06A-11D-A30X-08 TCGA-GF-A6C9-10A-01D-A30X-08 g.chr21:30409701C>T c.553C>T c.(553-555)Cct>Tct p.P185S SKCM 21 30412976 30412976 + Missense_Mutation SNP A A C TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr21:30412976A>C c.998A>C c.(997-999)aAg>aCg p.K333T SKCM 21 30414797 30414797 + Missense_Mutation SNP C C T TCGA-FS-A1ZW-06A-12D-A197-08 TCGA-FS-A1ZW-10A-01D-A199-08 g.chr21:30414797C>T c.1127C>T c.(1126-1128)tCc>tTc p.S376F SKCM 21 30419289 30419289 + Missense_Mutation SNP C C T TCGA-D3-A3C7-06A-11D-A196-08 TCGA-D3-A3C7-10A-01D-A198-08 g.chr21:30419289C>T c.1658C>T c.(1657-1659)cCc>cTc p.P553L SKCM 21 30422476 30422476 + Missense_Mutation SNP C C T TCGA-FS-A4F5-06A-11D-A25O-08 TCGA-FS-A4F5-10B-01D-A25O-08 g.chr21:30422476C>T c.2170C>T c.(2170-2172)Cct>Tct p.P724S

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 21 30419060 30419060 single base substitution G C exon_variant BLCA-US 21 30419060 30419060 single base substitution G C missense_variant E106Q 316G>C BLCA-US 21 30419060 30419060 single base substitution G C missense_variant E476Q 1426G>C BLCA-US 21 30419060 30419060 single base substitution G C missense_variant E477Q 1429G>C BRCA-EU 21 30393315 30393315 single base substitution C G upstream_gene_variant BRCA-EU 21 30393530 30393530 single base substitution G A upstream_gene_variant BRCA-EU 21 30398047 30398047 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 21 30398047 30398047 single base substitution C G intron_variant BRCA-EU 21 30399174 30399174 single base substitution G T intron_variant BRCA-EU 21 30401624 30401624 single base substitution C G intron_variant BRCA-EU 21 30402156 30402156 single base substitution C T intron_variant BRCA-EU 21 30402320 30402320 single base substitution T G intron_variant BRCA-EU 21 30405587 30405587 insertion of <=200bp - T intron_variant BRCA-EU 21 30405824 30405824 single base substitution A T intron_variant BRCA-EU 21 30405847 30405847 single base substitution C T intron_variant BRCA-EU 21 30406460 30406460 single base substitution T G intron_variant BRCA-EU 21 30406505 30406505 single base substitution G C intron_variant BRCA-EU 21 30406867 30406867 single base substitution C T intron_variant BRCA-EU 21 30408207 30408207 single base substitution G A downstream_gene_variant BRCA-EU 21 30408207 30408207 single base substitution G A intron_variant BRCA-EU 21 30408386 30408386 single base substitution A G downstream_gene_variant BRCA-EU 21 30408386 30408386 single base substitution A G intron_variant BRCA-EU 21 30410872 30410872 single base substitution A G downstream_gene_variant BRCA-EU 21 30410872 30410872 single base substitution A G intron_variant BRCA-EU 21 30411088 30411088 single base substitution T C downstream_gene_variant BRCA-EU 21 30411088 30411088 single base substitution T C intron_variant BRCA-EU 21 30412967 30412967 single base substitution C T exon_variant BRCA-EU 21 30412967 30412967 single base substitution C T intron_variant BRCA-EU 21 30412967 30412967 single base substitution C T missense_variant S329F 986C>T BRCA-EU 21 30412967 30412967 single base substitution C T missense_variant S330F 989C>T BRCA-EU 21 30413905 30413905 single base substitution C T intron_variant BRCA-EU 21 30414747 30414747 single base substitution A G intron_variant BRCA-EU 21 30415331 30415331 single base substitution C T exon_variant BRCA-EU 21 30415331 30415331 single base substitution C T intron_variant BRCA-EU 21 30418109 30418109 single base substitution C G intron_variant BRCA-EU 21 30418120 30418120 single base substitution T C intron_variant BRCA-EU 21 30418138 30418138 deletion of <=200bp T - intron_variant BRCA-EU 21 30418230 30418230 single base substitution T C intron_variant BRCA-EU 21 30419087 30419087 single base substitution T A exon_variant BRCA-EU 21 30419087 30419087 single base substitution T A missense_variant S115T 343T>A BRCA-EU 21 30419087 30419087 single base substitution T A missense_variant S485T 1453T>A BRCA-EU 21 30419087 30419087 single base substitution T A missense_variant S486T 1456T>A BRCA-EU 21 30420530 30420530 single base substitution A G intron_variant BRCA-EU 21 30420530 30420530 single base substitution A G upstream_gene_variant BRCA-EU 21 30423639 30423639 single base substitution G A intron_variant BRCA-EU 21 30423639 30423639 single base substitution G A upstream_gene_variant BRCA-EU 21 30423756 30423756 single base substitution A G intron_variant BRCA-EU 21 30423756 30423756 single base substitution A G upstream_gene_variant BRCA-EU 21 30426515 30426515 single base substitution C A 3_prime_UTR_variant BRCA-EU 21 30426515 30426515 single base substitution C A exon_variant BRCA-EU 21 30429374 30429374 single base substitution T C downstream_gene_variant BRCA-EU 21 30429948 30429948 single base substitution A T downstream_gene_variant BRCA-EU 21 30429951 30429951 single base substitution T A downstream_gene_variant BRCA-EU 21 30430604 30430604 deletion of <=200bp A - downstream_gene_variant BRCA-EU 21 30430765 30430765 deletion of <=200bp A - downstream_gene_variant BRCA-EU 21 30431333 30431333 single base substitution C T downstream_gene_variant BRCA-EU 21 30431592 30431592 single base substitution C T downstream_gene_variant BRCA-FR 21 30393864 30393864 single base substitution G T upstream_gene_variant BRCA-FR 21 30399174 30399174 single base substitution G T intron_variant BRCA-FR 21 30401624 30401624 single base substitution C G intron_variant BRCA-FR 21 30402156 30402156 single base substitution C T intron_variant BRCA-FR 21 30405847 30405847 single base substitution C T intron_variant BRCA-FR 21 30423756 30423756 single base substitution A G intron_variant BRCA-FR 21 30423756 30423756 single base substitution A G upstream_gene_variant BRCA-US 21 30411428 30411428 deletion of <=200bp A - downstream_gene_variant BRCA-US 21 30411428 30411428 deletion of <=200bp A - exon_variant BRCA-US 21 30411428 30411428 deletion of <=200bp A - frameshift_variant K271 BRCA-US 21 30411428 30411428 deletion of <=200bp A - frameshift_variant K272 BRCA-US 21 30411428 30411428 deletion of <=200bp A - intron_variant BRCA-US 21 30428810 30428810 single base substitution C G downstream_gene_variant BRCA-US 21 30428850 30428850 single base substitution A C downstream_gene_variant BTCA-JP 21 30403092 30403092 single base substitution C T intron_variant BTCA-JP 21 30403092 30403092 single base substitution C T splice_region_variant BTCA-JP 21 30403092 30403092 single base substitution C T stop_gained Q80* 238C>T BTCA-JP 21 30407156 30407156 single base substitution A T intron_variant BTCA-JP 21 30407156 30407156 single base substitution A T splice_acceptor_variant BTCA-JP 21 30411387 30411387 single base substitution C G downstream_gene_variant BTCA-JP 21 30411387 30411387 single base substitution C G exon_variant BTCA-JP 21 30411387 30411387 single base substitution C G intron_variant BTCA-JP 21 30411387 30411387 single base substitution C G missense_variant T257S 770C>G BTCA-JP 21 30411387 30411387 single base substitution C G missense_variant T258S 773C>G CLLE-ES 21 30398039 30398039 single base substitution G C 5_prime_UTR_variant CLLE-ES 21 30398039 30398039 single base substitution G C intron_variant CLLE-ES 21 30407483 30407484 deletion of <=200bp CC - downstream_gene_variant CLLE-ES 21 30407483 30407484 deletion of <=200bp CC - intron_variant CLLE-ES 21 30420363 30420363 single base substitution A G intron_variant CLLE-ES 21 30420363 30420363 single base substitution A G upstream_gene_variant CLLE-ES 21 30420695 30420695 single base substitution A T intron_variant CLLE-ES 21 30420695 30420695 single base substitution A T upstream_gene_variant CLLE-ES 21 30422219 30422219 single base substitution G T intron_variant CLLE-ES 21 30422219 30422219 single base substitution G T upstream_gene_variant CLLE-ES 21 30427539 30427539 single base substitution C T downstream_gene_variant COAD-US 21 30407196 30407196 single base substitution G T exon_variant COAD-US 21 30407196 30407196 single base substitution G T intron_variant COAD-US 21 30407196 30407196 single base substitution G T missense_variant K93N 279G>T COAD-US 21 30408670 30408670 single base substitution A T downstream_gene_variant COAD-US 21 30408670 30408670 single base substitution A T exon_variant COAD-US 21 30408670 30408670 single base substitution A T intron_variant COAD-US 21 30408670 30408670 single base substitution A T missense_variant Q141H 423A>T COAD-US 21 30412971 30412971 single base substitution T G exon_variant COAD-US 21 30412971 30412971 single base substitution T G intron_variant COAD-US 21 30412971 30412971 single base substitution T G synonymous_variant T330T 990T>G COAD-US 21 30412971 30412971 single base substitution T G synonymous_variant T331T 993T>G COAD-US 21 30419553 30419553 single base substitution C T exon_variant COAD-US 21 30419553 30419553 single base substitution C T missense_variant T270I 809C>T COAD-US 21 30419553 30419553 single base substitution C T missense_variant T640I 1919C>T COAD-US 21 30419553 30419553 single base substitution C T missense_variant T641I 1922C>T COAD-US 21 30419553 30419553 single base substitution C T upstream_gene_variant COAD-US 21 30426459 30426459 single base substitution A C exon_variant COAD-US 21 30426459 30426459 single base substitution A C missense_variant K437T 1310A>C COAD-US 21 30426459 30426459 single base substitution A C missense_variant K807T 2420A>C COAD-US 21 30426459 30426459 single base substitution A C missense_variant K808T 2423A>C COCA-CN 21 30407010 30407010 single base substitution A C intron_variant COCA-CN 21 30407114 30407114 single base substitution C T intron_variant COCA-CN 21 30411452 30411452 single base substitution G T downstream_gene_variant COCA-CN 21 30411452 30411452 single base substitution G T exon_variant COCA-CN 21 30411452 30411452 single base substitution G T intron_variant COCA-CN 21 30411452 30411452 single base substitution G T stop_gained E279* 835G>T COCA-CN 21 30411452 30411452 single base substitution G T stop_gained E280* 838G>T COCA-CN 21 30419197 30419197 single base substitution C T exon_variant COCA-CN 21 30419197 30419197 single base substitution C T synonymous_variant I151I 453C>T COCA-CN 21 30419197 30419197 single base substitution C T synonymous_variant I521I 1563C>T COCA-CN 21 30419197 30419197 single base substitution C T synonymous_variant I522I 1566C>T EOPC-DE 21 30431527 30431527 single base substitution A T downstream_gene_variant ESAD-UK 21 30392205 30392205 single base substitution G A upstream_gene_variant ESAD-UK 21 30395254 30395254 single base substitution G T upstream_gene_variant ESAD-UK 21 30395288 30395288 single base substitution A G upstream_gene_variant ESAD-UK 21 30396607 30396607 single base substitution G A upstream_gene_variant ESAD-UK 21 30402132 30402132 single base substitution G A intron_variant ESAD-UK 21 30403916 30403916 single base substitution G A intron_variant ESAD-UK 21 30404411 30404411 single base substitution A T intron_variant ESAD-UK 21 30406141 30406141 single base substitution G A intron_variant ESAD-UK 21 30406375 30406375 single base substitution G A intron_variant ESAD-UK 21 30406612 30406612 single base substitution T A intron_variant ESAD-UK 21 30407247 30407247 single base substitution C T downstream_gene_variant ESAD-UK 21 30407247 30407247 single base substitution C T exon_variant ESAD-UK 21 30407247 30407247 single base substitution C T intron_variant ESAD-UK 21 30407247 30407247 single base substitution C T synonymous_variant D110D 330C>T ESAD-UK 21 30408265 30408265 deletion of <=200bp A - downstream_gene_variant ESAD-UK 21 30408265 30408265 deletion of <=200bp A - intron_variant ESAD-UK 21 30411403 30411403 single base substitution G A downstream_gene_variant ESAD-UK 21 30411403 30411403 single base substitution G A exon_variant ESAD-UK 21 30411403 30411403 single base substitution G A intron_variant ESAD-UK 21 30411403 30411403 single base substitution G A synonymous_variant Q262Q 786G>A ESAD-UK 21 30411403 30411403 single base substitution G A synonymous_variant Q263Q 789G>A ESAD-UK 21 30412913 30412913 single base substitution C T intron_variant ESAD-UK 21 30413573 30413573 single base substitution C G intron_variant ESAD-UK 21 30416126 30416126 single base substitution T A intron_variant ESAD-UK 21 30420682 30420682 single base substitution C T intron_variant ESAD-UK 21 30420682 30420682 single base substitution C T upstream_gene_variant ESAD-UK 21 30420985 30420985 single base substitution C T intron_variant ESAD-UK 21 30420985 30420985 single base substitution C T upstream_gene_variant ESAD-UK 21 30421412 30421412 single base substitution C T intron_variant ESAD-UK 21 30421412 30421412 single base substitution C T upstream_gene_variant ESAD-UK 21 30430849 30430849 single base substitution T A downstream_gene_variant GBM-US 21 30409731 30409731 single base substitution G A downstream_gene_variant GBM-US 21 30409731 30409731 single base substitution G A exon_variant GBM-US 21 30409731 30409731 single base substitution G A intron_variant GBM-US 21 30409731 30409731 single base substitution G A missense_variant V194M 580G>A GBM-US 21 30409731 30409731 single base substitution G A missense_variant V195M 583G>A KIRC-US 21 30415852 30415852 single base substitution G T exon_variant KIRC-US 21 30415852 30415852 single base substitution G T missense_variant D429Y 1285G>T KIRC-US 21 30415852 30415852 single base substitution G T missense_variant D430Y 1288G>T KIRC-US 21 30415852 30415852 single base substitution G T missense_variant D59Y 175G>T LAML-KR 21 30400110 30400110 single base substitution G A intron_variant LAML-KR 21 30419535 30419535 single base substitution A G exon_variant LAML-KR 21 30419535 30419535 single base substitution A G missense_variant H264R 791A>G LAML-KR 21 30419535 30419535 single base substitution A G missense_variant H634R 1901A>G LAML-KR 21 30419535 30419535 single base substitution A G missense_variant H635R 1904A>G LAML-KR 21 30419535 30419535 single base substitution A G upstream_gene_variant LGG-US 21 30419419 30419419 single base substitution T C exon_variant LGG-US 21 30419419 30419419 single base substitution T C synonymous_variant N225N 675T>C LGG-US 21 30419419 30419419 single base substitution T C synonymous_variant N595N 1785T>C LGG-US 21 30419419 30419419 single base substitution T C synonymous_variant N596N 1788T>C LICA-CN 21 30408618 30408618 single base substitution A T downstream_gene_variant LICA-CN 21 30408618 30408618 single base substitution A T exon_variant LICA-CN 21 30408618 30408618 single base substitution A T intron_variant LICA-CN 21 30408618 30408618 single base substitution A T missense_variant Q124L 371A>T LICA-CN 21 30428803 30428803 single base substitution T C downstream_gene_variant LICA-FR 21 30411346 30411346 single base substitution G A downstream_gene_variant LICA-FR 21 30411346 30411346 single base substitution G A intron_variant LICA-FR 21 30411346 30411346 single base substitution G A splice_acceptor_variant LICA-FR 21 30411527 30411527 single base substitution A G downstream_gene_variant LICA-FR 21 30411527 30411527 single base substitution A G intron_variant LIHC-US 21 30411352 30411352 single base substitution A G downstream_gene_variant LIHC-US 21 30411352 30411352 single base substitution A G exon_variant LIHC-US 21 30411352 30411352 single base substitution A G intron_variant LIHC-US 21 30411352 30411352 single base substitution A G synonymous_variant P245P 735A>G LIHC-US 21 30411352 30411352 single base substitution A G synonymous_variant P246P 738A>G LIHC-US 21 30419571 30419571 single base substitution G T exon_variant LIHC-US 21 30419571 30419571 single base substitution G T missense_variant R276L 827G>T LIHC-US 21 30419571 30419571 single base substitution G T missense_variant R646L 1937G>T LIHC-US 21 30419571 30419571 single base substitution G T missense_variant R647L 1940G>T LIHC-US 21 30419571 30419571 single base substitution G T upstream_gene_variant LINC-JP 21 30406269 30406269 single base substitution T G intron_variant LINC-JP 21 30413575 30413575 insertion of <=200bp - T intron_variant LINC-JP 21 30415729 30415729 single base substitution T A exon_variant LINC-JP 21 30415729 30415729 single base substitution T A intron_variant LINC-JP 21 30422356 30422356 single base substitution C G intron_variant LINC-JP 21 30422356 30422356 single base substitution C G upstream_gene_variant LINC-JP 21 30427027 30427027 single base substitution A G downstream_gene_variant LINC-JP 21 30428489 30428489 single base substitution T G downstream_gene_variant LINC-JP 21 30429832 30429832 single base substitution T C downstream_gene_variant LIRI-JP 21 30392275 30392275 single base substitution G A upstream_gene_variant LIRI-JP 21 30395641 30395641 deletion of <=200bp T - upstream_gene_variant LIRI-JP 21 30396786 30396786 single base substitution T C upstream_gene_variant LIRI-JP 21 30400410 30400410 single base substitution T C intron_variant LIRI-JP 21 30401145 30401145 single base substitution A T intron_variant LIRI-JP 21 30401304 30401304 single base substitution T C intron_variant LIRI-JP 21 30409861 30409861 single base substitution T C downstream_gene_variant LIRI-JP 21 30409861 30409861 single base substitution T C intron_variant LIRI-JP 21 30413026 30413032 deletion of <=200bp GAACTAA - intron_variant LIRI-JP 21 30413157 30413157 single base substitution C A intron_variant LIRI-JP 21 30413953 30413953 single base substitution T G intron_variant LIRI-JP 21 30414690 30414690 single base substitution T G intron_variant LIRI-JP 21 30415592 30415592 single base substitution A G exon_variant LIRI-JP 21 30415592 30415592 single base substitution A G intron_variant LIRI-JP 21 30416229 30416229 single base substitution A G intron_variant LIRI-JP 21 30416548 30416548 single base substitution C G intron_variant LIRI-JP 21 30419027 30419027 single base substitution C T exon_variant LIRI-JP 21 30419027 30419027 single base substitution C T missense_variant H465Y 1393C>T LIRI-JP 21 30419027 30419027 single base substitution C T missense_variant H466Y 1396C>T LIRI-JP 21 30419027 30419027 single base substitution C T missense_variant H95Y 283C>T LIRI-JP 21 30425374 30425374 single base substitution T C exon_variant LIRI-JP 21 30425374 30425374 single base substitution T C intron_variant LIRI-JP 21 30428804 30428804 single base substitution T G downstream_gene_variant LIRI-JP 21 30429073 30429073 single base substitution C T downstream_gene_variant LIRI-JP 21 30429818 30429818 single base substitution A C downstream_gene_variant LUSC-KR 21 30392829 30392829 single base substitution G T upstream_gene_variant LUSC-KR 21 30397169 30397169 single base substitution C T intron_variant LUSC-KR 21 30398119 30398119 single base substitution G T intron_variant LUSC-KR 21 30399249 30399249 single base substitution A G intron_variant LUSC-KR 21 30399528 30399528 single base substitution G C intron_variant LUSC-KR 21 30400099 30400099 single base substitution G A intron_variant LUSC-KR 21 30410266 30410266 single base substitution G T downstream_gene_variant LUSC-KR 21 30410266 30410266 single base substitution G T intron_variant LUSC-KR 21 30414724 30414724 single base substitution C T intron_variant LUSC-KR 21 30415263 30415263 single base substitution G C exon_variant LUSC-KR 21 30415263 30415263 single base substitution G C intron_variant LUSC-KR 21 30416786 30416786 single base substitution G T intron_variant LUSC-KR 21 30423108 30423108 single base substitution C G intron_variant LUSC-KR 21 30423108 30423108 single base substitution C G upstream_gene_variant LUSC-KR 21 30426773 30426773 single base substitution G T 3_prime_UTR_variant LUSC-KR 21 30426773 30426773 single base substitution G T downstream_gene_variant LUSC-KR 21 30426773 30426773 single base substitution G T exon_variant LUSC-US 21 30402967 30402967 single base substitution A G exon_variant LUSC-US 21 30402967 30402967 single base substitution A G intron_variant LUSC-US 21 30402967 30402967 single base substitution A G missense_variant K38R 113A>G LUSC-US 21 30402983 30402983 single base substitution G T exon_variant LUSC-US 21 30402983 30402983 single base substitution G T intron_variant LUSC-US 21 30402983 30402983 single base substitution G T synonymous_variant V43V 129G>T LUSC-US 21 30403061 30403061 single base substitution T C exon_variant LUSC-US 21 30403061 30403061 single base substitution T C intron_variant LUSC-US 21 30403061 30403061 single base substitution T C synonymous_variant P69P 207T>C LUSC-US 21 30419000 30419000 single base substitution C T exon_variant LUSC-US 21 30419000 30419000 single base substitution C T stop_gained Q456* 1366C>T LUSC-US 21 30419000 30419000 single base substitution C T stop_gained Q457* 1369C>T LUSC-US 21 30419000 30419000 single base substitution C T stop_gained Q86* 256C>T MALY-DE 21 30392733 30392733 single base substitution G A upstream_gene_variant MALY-DE 21 30407367 30407367 single base substitution A G downstream_gene_variant MALY-DE 21 30407367 30407367 single base substitution A G intron_variant MALY-DE 21 30419193 30419193 single base substitution T G exon_variant MALY-DE 21 30419193 30419193 single base substitution T G missense_variant M150R 449T>G MALY-DE 21 30419193 30419193 single base substitution T G missense_variant M520R 1559T>G MALY-DE 21 30419193 30419193 single base substitution T G missense_variant M521R 1562T>G MALY-DE 21 30422865 30422865 single base substitution G C intron_variant MALY-DE 21 30422865 30422865 single base substitution G C upstream_gene_variant MALY-DE 21 30426781 30426781 single base substitution A G 3_prime_UTR_variant MALY-DE 21 30426781 30426781 single base substitution A G downstream_gene_variant MALY-DE 21 30426781 30426781 single base substitution A G exon_variant MALY-DE 21 30429310 30429310 single base substitution T G downstream_gene_variant MELA-AU 21 30392268 30392268 single base substitution C T upstream_gene_variant MELA-AU 21 30392895 30392895 single base substitution C T upstream_gene_variant MELA-AU 21 30393036 30393037 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 21 30393367 30393367 single base substitution C T upstream_gene_variant MELA-AU 21 30394219 30394219 single base substitution G A upstream_gene_variant MELA-AU 21 30394569 30394569 single base substitution G A upstream_gene_variant MELA-AU 21 30395163 30395163 single base substitution C G upstream_gene_variant MELA-AU 21 30395331 30395331 single base substitution C T upstream_gene_variant MELA-AU 21 30395944 30395944 single base substitution G A upstream_gene_variant MELA-AU 21 30395985 30395985 single base substitution G A upstream_gene_variant MELA-AU 21 30396198 30396198 single base substitution G A upstream_gene_variant MELA-AU 21 30396670 30396670 single base substitution G C upstream_gene_variant MELA-AU 21 30396966 30396966 single base substitution G A 5_prime_UTR_variant MELA-AU 21 30396966 30396966 single base substitution G A upstream_gene_variant MELA-AU 21 30397462 30397462 single base substitution G A intron_variant MELA-AU 21 30397622 30397622 single base substitution G A intron_variant MELA-AU 21 30398009 30398009 single base substitution C T intron_variant MELA-AU 21 30398545 30398545 single base substitution C T intron_variant MELA-AU 21 30400255 30400255 single base substitution G A exon_variant MELA-AU 21 30400255 30400255 single base substitution G A intron_variant MELA-AU 21 30400255 30400255 single base substitution G A synonymous_variant K7K 21G>A MELA-AU 21 30401903 30401904 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30402098 30402098 single base substitution C T intron_variant MELA-AU 21 30403302 30403302 single base substitution T C intron_variant MELA-AU 21 30404118 30404118 single base substitution C T intron_variant MELA-AU 21 30404152 30404152 single base substitution C T intron_variant MELA-AU 21 30404242 30404242 single base substitution C T intron_variant MELA-AU 21 30404684 30404684 single base substitution C G intron_variant MELA-AU 21 30404848 30404848 single base substitution C T intron_variant MELA-AU 21 30404982 30404982 single base substitution C T intron_variant MELA-AU 21 30405966 30405966 single base substitution A G intron_variant MELA-AU 21 30408373 30408373 single base substitution C G downstream_gene_variant MELA-AU 21 30408373 30408373 single base substitution C G intron_variant MELA-AU 21 30408540 30408540 single base substitution C T downstream_gene_variant MELA-AU 21 30408540 30408540 single base substitution C T intron_variant MELA-AU 21 30409318 30409318 single base substitution C T downstream_gene_variant MELA-AU 21 30409318 30409318 single base substitution C T intron_variant MELA-AU 21 30409465 30409465 single base substitution A G downstream_gene_variant MELA-AU 21 30409465 30409465 single base substitution A G intron_variant MELA-AU 21 30410302 30410302 single base substitution C T downstream_gene_variant MELA-AU 21 30410302 30410302 single base substitution C T intron_variant MELA-AU 21 30410449 30410449 single base substitution C T downstream_gene_variant MELA-AU 21 30410449 30410449 single base substitution C T intron_variant MELA-AU 21 30410568 30410568 single base substitution C T downstream_gene_variant MELA-AU 21 30410568 30410568 single base substitution C T intron_variant MELA-AU 21 30411819 30411819 single base substitution G T downstream_gene_variant MELA-AU 21 30411819 30411819 single base substitution G T exon_variant MELA-AU 21 30411819 30411819 single base substitution G T intron_variant MELA-AU 21 30411819 30411819 single base substitution G T missense_variant G293V 878G>T MELA-AU 21 30411819 30411819 single base substitution G T missense_variant G294V 881G>T MELA-AU 21 30412030 30412030 single base substitution C T downstream_gene_variant MELA-AU 21 30412030 30412030 single base substitution C T intron_variant MELA-AU 21 30412079 30412079 single base substitution T A downstream_gene_variant MELA-AU 21 30412079 30412079 single base substitution T A intron_variant MELA-AU 21 30412085 30412085 single base substitution T A downstream_gene_variant MELA-AU 21 30412085 30412085 single base substitution T A intron_variant MELA-AU 21 30412851 30412851 single base substitution C A intron_variant MELA-AU 21 30414711 30414711 single base substitution C T intron_variant MELA-AU 21 30414735 30414735 single base substitution T A intron_variant MELA-AU 21 30414790 30414790 single base substitution A G intron_variant MELA-AU 21 30414790 30414790 single base substitution A G splice_region_variant MELA-AU 21 30414828 30414828 single base substitution C T exon_variant MELA-AU 21 30414828 30414828 single base substitution C T splice_region_variant MELA-AU 21 30414828 30414828 single base substitution C T synonymous_variant S385S 1155C>T MELA-AU 21 30414828 30414828 single base substitution C T synonymous_variant S386S 1158C>T MELA-AU 21 30414849 30414849 single base substitution G A exon_variant MELA-AU 21 30414849 30414849 single base substitution G A splice_region_variant MELA-AU 21 30415942 30415942 single base substitution C T intron_variant MELA-AU 21 30416071 30416071 single base substitution C T intron_variant MELA-AU 21 30416182 30416182 single base substitution C T intron_variant MELA-AU 21 30416241 30416241 single base substitution C T intron_variant MELA-AU 21 30416611 30416611 single base substitution C T intron_variant MELA-AU 21 30416692 30416692 single base substitution C T intron_variant MELA-AU 21 30417631 30417631 single base substitution A G intron_variant MELA-AU 21 30417750 30417750 single base substitution C T intron_variant MELA-AU 21 30418116 30418116 single base substitution C T intron_variant MELA-AU 21 30418219 30418219 single base substitution C T intron_variant MELA-AU 21 30418251 30418251 single base substitution C T intron_variant MELA-AU 21 30418277 30418277 single base substitution C T intron_variant MELA-AU 21 30419886 30419886 single base substitution C T intron_variant MELA-AU 21 30419886 30419886 single base substitution C T upstream_gene_variant MELA-AU 21 30420145 30420145 single base substitution C T intron_variant MELA-AU 21 30420145 30420145 single base substitution C T upstream_gene_variant MELA-AU 21 30420737 30420737 single base substitution T G intron_variant MELA-AU 21 30420737 30420737 single base substitution T G upstream_gene_variant MELA-AU 21 30420971 30420971 single base substitution A T intron_variant MELA-AU 21 30420971 30420971 single base substitution A T upstream_gene_variant MELA-AU 21 30421130 30421130 single base substitution C T exon_variant MELA-AU 21 30421130 30421130 single base substitution C T missense_variant S316F 947C>T MELA-AU 21 30421130 30421130 single base substitution C T missense_variant S686F 2057C>T MELA-AU 21 30421130 30421130 single base substitution C T missense_variant S687F 2060C>T MELA-AU 21 30421130 30421130 single base substitution C T upstream_gene_variant MELA-AU 21 30421132 30421132 single base substitution C T exon_variant MELA-AU 21 30421132 30421132 single base substitution C T missense_variant L317F 949C>T MELA-AU 21 30421132 30421132 single base substitution C T missense_variant L687F 2059C>T MELA-AU 21 30421132 30421132 single base substitution C T missense_variant L688F 2062C>T MELA-AU 21 30421132 30421132 single base substitution C T upstream_gene_variant MELA-AU 21 30421821 30421821 single base substitution G A intron_variant MELA-AU 21 30421821 30421821 single base substitution G A upstream_gene_variant MELA-AU 21 30421864 30421864 single base substitution G A intron_variant MELA-AU 21 30421864 30421864 single base substitution G A upstream_gene_variant MELA-AU 21 30421961 30421961 single base substitution G A intron_variant MELA-AU 21 30421961 30421961 single base substitution G A upstream_gene_variant MELA-AU 21 30423457 30423457 single base substitution C T intron_variant MELA-AU 21 30423457 30423457 single base substitution C T upstream_gene_variant MELA-AU 21 30423830 30423830 single base substitution C T intron_variant MELA-AU 21 30423830 30423830 single base substitution C T upstream_gene_variant MELA-AU 21 30423949 30423949 single base substitution C T intron_variant MELA-AU 21 30423949 30423949 single base substitution C T upstream_gene_variant MELA-AU 21 30424074 30424074 single base substitution C T intron_variant MELA-AU 21 30424074 30424074 single base substitution C T upstream_gene_variant MELA-AU 21 30424245 30424245 single base substitution A G intron_variant MELA-AU 21 30424245 30424245 single base substitution A G upstream_gene_variant MELA-AU 21 30424773 30424774 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 21 30424773 30424774 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 21 30425804 30425804 single base substitution T G exon_variant MELA-AU 21 30425804 30425804 single base substitution T G intron_variant MELA-AU 21 30427558 30427558 single base substitution A G downstream_gene_variant MELA-AU 21 30428060 30428060 single base substitution C T downstream_gene_variant MELA-AU 21 30428494 30428494 single base substitution T A downstream_gene_variant MELA-AU 21 30429254 30429254 single base substitution C T downstream_gene_variant ORCA-IN 21 30393906 30393906 single base substitution G C upstream_gene_variant ORCA-IN 21 30405235 30405235 single base substitution C T intron_variant ORCA-IN 21 30409781 30409781 single base substitution G T downstream_gene_variant ORCA-IN 21 30409781 30409781 single base substitution G T exon_variant ORCA-IN 21 30409781 30409781 single base substitution G T intron_variant ORCA-IN 21 30409781 30409781 single base substitution G T missense_variant M210I 630G>T ORCA-IN 21 30409781 30409781 single base substitution G T missense_variant M211I 633G>T ORCA-IN 21 30420477 30420477 single base substitution C G intron_variant ORCA-IN 21 30420477 30420477 single base substitution C G upstream_gene_variant OV-AU 21 30392399 30392399 single base substitution A C upstream_gene_variant OV-AU 21 30392464 30392464 single base substitution C G upstream_gene_variant OV-AU 21 30411277 30411277 single base substitution A T downstream_gene_variant OV-AU 21 30411277 30411277 single base substitution A T intron_variant OV-AU 21 30414932 30414932 single base substitution A T exon_variant OV-AU 21 30414932 30414932 single base substitution A T intron_variant OV-AU 21 30421221 30421221 single base substitution C T intron_variant OV-AU 21 30421221 30421221 single base substitution C T upstream_gene_variant OV-AU 21 30430066 30430066 single base substitution A G downstream_gene_variant PACA-AU 21 30398377 30398377 single base substitution C A intron_variant PACA-AU 21 30400716 30400716 single base substitution A G intron_variant PACA-AU 21 30403805 30403812 deletion of <=200bp GCTGGAGT - intron_variant PACA-AU 21 30405443 30405443 single base substitution A G intron_variant PACA-AU 21 30419958 30419958 single base substitution C A intron_variant PACA-AU 21 30419958 30419958 single base substitution C A upstream_gene_variant PACA-AU 21 30422202 30422202 single base substitution G A intron_variant PACA-AU 21 30422202 30422202 single base substitution G A upstream_gene_variant PACA-AU 21 30425727 30425727 single base substitution G C exon_variant PACA-AU 21 30425727 30425727 single base substitution G C intron_variant PACA-AU 21 30426019 30426019 single base substitution A G exon_variant PACA-AU 21 30426019 30426019 single base substitution A G intron_variant PACA-CA 21 30392250 30392250 single base substitution G A upstream_gene_variant PACA-CA 21 30395576 30395576 insertion of <=200bp - AATA upstream_gene_variant PACA-CA 21 30396930 30396930 single base substitution T G upstream_gene_variant PACA-CA 21 30397341 30397341 single base substitution G A intron_variant PACA-CA 21 30398500 30398500 single base substitution C G intron_variant PACA-CA 21 30399066 30399066 single base substitution C T intron_variant PACA-CA 21 30404040 30404040 single base substitution G A intron_variant PACA-CA 21 30407929 30407929 single base substitution G T downstream_gene_variant PACA-CA 21 30407929 30407929 single base substitution G T intron_variant PACA-CA 21 30411176 30411176 single base substitution T G downstream_gene_variant PACA-CA 21 30411176 30411176 single base substitution T G intron_variant PACA-CA 21 30415681 30415681 deletion of <=200bp T - exon_variant PACA-CA 21 30415681 30415681 deletion of <=200bp T - intron_variant PACA-CA 21 30424082 30424082 single base substitution G C intron_variant PACA-CA 21 30424082 30424082 single base substitution G C upstream_gene_variant PACA-CA 21 30425066 30425066 single base substitution A G exon_variant PACA-CA 21 30425066 30425066 single base substitution A G intron_variant PACA-CA 21 30429688 30429688 single base substitution C T downstream_gene_variant PBCA-DE 21 30400144 30400144 single base substitution A T intron_variant PBCA-DE 21 30421581 30421581 single base substitution G T intron_variant PBCA-DE 21 30421581 30421581 single base substitution G T upstream_gene_variant PRAD-CA 21 30409722 30409722 single base substitution C G downstream_gene_variant PRAD-CA 21 30409722 30409722 single base substitution C G exon_variant PRAD-CA 21 30409722 30409722 single base substitution C G intron_variant PRAD-CA 21 30409722 30409722 single base substitution C G missense_variant Q191E 571C>G PRAD-CA 21 30409722 30409722 single base substitution C G missense_variant Q192E 574C>G PRAD-CA 21 30425081 30425081 single base substitution A G exon_variant PRAD-CA 21 30425081 30425081 single base substitution A G intron_variant PRAD-UK 21 30391983 30391983 single base substitution T G upstream_gene_variant PRAD-UK 21 30392693 30392693 insertion of <=200bp - T upstream_gene_variant PRAD-UK 21 30405323 30405323 single base substitution G A intron_variant PRAD-UK 21 30412886 30412886 deletion of <=200bp T - intron_variant PRAD-UK 21 30426468 30426470 deletion of <=200bp ACT - disruptive_inframe_deletion NS440T PRAD-UK 21 30426468 30426470 deletion of <=200bp ACT - disruptive_inframe_deletion NS810T PRAD-UK 21 30426468 30426470 deletion of <=200bp ACT - disruptive_inframe_deletion NS811T PRAD-UK 21 30426468 30426470 deletion of <=200bp ACT - exon_variant PRAD-UK 21 30431474 30431474 single base substitution T C downstream_gene_variant PRAD-US 21 30411465 30411465 single base substitution A G downstream_gene_variant PRAD-US 21 30411465 30411465 single base substitution A G exon_variant PRAD-US 21 30411465 30411465 single base substitution A G intron_variant PRAD-US 21 30411465 30411465 single base substitution A G missense_variant Q283R 848A>G PRAD-US 21 30411465 30411465 single base substitution A G missense_variant Q284R 851A>G RECA-EU 21 30401381 30401381 single base substitution C T intron_variant RECA-EU 21 30402491 30402491 single base substitution T A intron_variant RECA-EU 21 30404368 30404368 single base substitution A G intron_variant RECA-EU 21 30410138 30410138 single base substitution C T downstream_gene_variant RECA-EU 21 30410138 30410138 single base substitution C T intron_variant RECA-EU 21 30417526 30417526 single base substitution A G intron_variant RECA-EU 21 30419699 30419699 single base substitution G A intron_variant RECA-EU 21 30419699 30419699 single base substitution G A upstream_gene_variant RECA-EU 21 30430673 30430673 single base substitution A C downstream_gene_variant SKCA-BR 21 30393674 30393674 single base substitution C T upstream_gene_variant SKCA-BR 21 30395406 30395406 single base substitution A C upstream_gene_variant SKCA-BR 21 30395700 30395700 single base substitution C T upstream_gene_variant SKCA-BR 21 30398883 30398883 single base substitution G T intron_variant SKCA-BR 21 30398883 30398883 single base substitution G T splice_region_variant SKCA-BR 21 30404496 30404496 single base substitution C T intron_variant SKCA-BR 21 30410350 30410350 single base substitution A C downstream_gene_variant SKCA-BR 21 30410350 30410350 single base substitution A C intron_variant SKCA-BR 21 30411586 30411586 single base substitution A G downstream_gene_variant SKCA-BR 21 30411586 30411586 single base substitution A G intron_variant SKCA-BR 21 30412131 30412131 single base substitution C T downstream_gene_variant SKCA-BR 21 30412131 30412131 single base substitution C T intron_variant SKCA-BR 21 30416117 30416117 single base substitution C T intron_variant SKCA-BR 21 30424525 30424525 single base substitution C T exon_variant SKCA-BR 21 30424525 30424525 single base substitution C T intron_variant SKCA-BR 21 30430049 30430055 deletion of <=200bp TGTATGA - downstream_gene_variant SKCA-BR 21 30430056 30430056 single base substitution T C downstream_gene_variant SKCA-BR 21 30431105 30431105 single base substitution G A downstream_gene_variant SKCM-US 21 30400247 30400247 single base substitution C T exon_variant SKCM-US 21 30400247 30400247 single base substitution C T intron_variant SKCM-US 21 30400247 30400247 single base substitution C T missense_variant R5W 13C>T SKCM-US 21 30409680 30409680 single base substitution G A downstream_gene_variant SKCM-US 21 30409680 30409680 single base substitution G A exon_variant SKCM-US 21 30409680 30409680 single base substitution G A intron_variant SKCM-US 21 30409680 30409680 single base substitution G A missense_variant E177K 529G>A SKCM-US 21 30409680 30409680 single base substitution G A missense_variant E178K 532G>A SKCM-US 21 30409701 30409701 single base substitution C T downstream_gene_variant SKCM-US 21 30409701 30409701 single base substitution C T exon_variant SKCM-US 21 30409701 30409701 single base substitution C T intron_variant SKCM-US 21 30409701 30409701 single base substitution C T missense_variant P184S 550C>T SKCM-US 21 30409701 30409701 single base substitution C T missense_variant P185S 553C>T SKCM-US 21 30412976 30412976 single base substitution A C exon_variant SKCM-US 21 30412976 30412976 single base substitution A C intron_variant SKCM-US 21 30412976 30412976 single base substitution A C missense_variant K332T 995A>C SKCM-US 21 30412976 30412976 single base substitution A C missense_variant K333T 998A>C SKCM-US 21 30414797 30414797 single base substitution C T exon_variant SKCM-US 21 30414797 30414797 single base substitution C T intron_variant SKCM-US 21 30414797 30414797 single base substitution C T missense_variant S375F 1124C>T SKCM-US 21 30414797 30414797 single base substitution C T missense_variant S376F 1127C>T SKCM-US 21 30419289 30419289 single base substitution C T exon_variant SKCM-US 21 30419289 30419289 single base substitution C T missense_variant P182L 545C>T SKCM-US 21 30419289 30419289 single base substitution C T missense_variant P552L 1655C>T SKCM-US 21 30419289 30419289 single base substitution C T missense_variant P553L 1658C>T SKCM-US 21 30422476 30422476 single base substitution C T exon_variant SKCM-US 21 30422476 30422476 single base substitution C T missense_variant P353S 1057C>T SKCM-US 21 30422476 30422476 single base substitution C T missense_variant P723S 2167C>T SKCM-US 21 30422476 30422476 single base substitution C T missense_variant P724S 2170C>T SKCM-US 21 30422476 30422476 single base substitution C T upstream_gene_variant STAD-US 21 30407165 30407165 single base substitution G A exon_variant STAD-US 21 30407165 30407165 single base substitution G A intron_variant STAD-US 21 30407165 30407165 single base substitution G A missense_variant G83D 248G>A STAD-US 21 30408598 30408598 single base substitution C T downstream_gene_variant STAD-US 21 30408598 30408598 single base substitution C T exon_variant STAD-US 21 30408598 30408598 single base substitution C T intron_variant STAD-US 21 30408598 30408598 single base substitution C T synonymous_variant Y117Y 351C>T STAD-US 21 30409640 30409640 single base substitution A G downstream_gene_variant STAD-US 21 30409640 30409640 single base substitution A G exon_variant STAD-US 21 30409640 30409640 single base substitution A G intron_variant STAD-US 21 30409640 30409640 single base substitution A G synonymous_variant L163L 489A>G STAD-US 21 30409640 30409640 single base substitution A G synonymous_variant L164L 492A>G STAD-US 21 30414846 30414846 single base substitution T C exon_variant STAD-US 21 30414846 30414846 single base substitution T C synonymous_variant D21D 63T>C STAD-US 21 30414846 30414846 single base substitution T C synonymous_variant D391D 1173T>C STAD-US 21 30414846 30414846 single base substitution T C synonymous_variant D392D 1176T>C STAD-US 21 30415748 30415748 single base substitution G C exon_variant STAD-US 21 30415748 30415748 single base substitution G C missense_variant G24A 71G>C STAD-US 21 30415748 30415748 single base substitution G C missense_variant G394A 1181G>C STAD-US 21 30415748 30415748 single base substitution G C missense_variant G395A 1184G>C STAD-US 21 30419571 30419571 single base substitution G A exon_variant STAD-US 21 30419571 30419571 single base substitution G A missense_variant R276Q 827G>A STAD-US 21 30419571 30419571 single base substitution G A missense_variant R646Q 1937G>A STAD-US 21 30419571 30419571 single base substitution G A missense_variant R647Q 1940G>A STAD-US 21 30419571 30419571 single base substitution G A upstream_gene_variant STAD-US 21 30422460 30422460 single base substitution A C exon_variant STAD-US 21 30422460 30422460 single base substitution A C missense_variant E347D 1041A>C STAD-US 21 30422460 30422460 single base substitution A C missense_variant E717D 2151A>C STAD-US 21 30422460 30422460 single base substitution A C missense_variant E718D 2154A>C STAD-US 21 30422460 30422460 single base substitution A C upstream_gene_variant STAD-US 21 30426506 30426508 deletion of <=200bp TAA - exon_variant STAD-US 21 30426506 30426508 deletion of <=200bp TAA - stop_lost *453 STAD-US 21 30426506 30426508 deletion of <=200bp TAA - stop_lost *823 STAD-US 21 30426506 30426508 deletion of <=200bp TAA - stop_lost *824 THCA-SA 21 30407208 30407208 single base substitution G A exon_variant THCA-SA 21 30407208 30407208 single base substitution G A intron_variant THCA-SA 21 30407208 30407208 single base substitution G A synonymous_variant T97T 291G>A UCEC-US 21 30403007 30403007 single base substitution T C exon_variant UCEC-US 21 30403007 30403007 single base substitution T C intron_variant UCEC-US 21 30403007 30403007 single base substitution T C synonymous_variant C51C 153T>C UCEC-US 21 30403058 30403058 single base substitution G A exon_variant UCEC-US 21 30403058 30403058 single base substitution G A intron_variant UCEC-US 21 30403058 30403058 single base substitution G A synonymous_variant K68K 204G>A UCEC-US 21 30409667 30409667 single base substitution G T downstream_gene_variant UCEC-US 21 30409667 30409667 single base substitution G T exon_variant UCEC-US 21 30409667 30409667 single base substitution G T intron_variant UCEC-US 21 30409667 30409667 single base substitution G T missense_variant E172D 516G>T UCEC-US 21 30409667 30409667 single base substitution G T missense_variant E173D 519G>T UCEC-US 21 30409702 30409702 single base substitution C A downstream_gene_variant UCEC-US 21 30409702 30409702 single base substitution C A exon_variant UCEC-US 21 30409702 30409702 single base substitution C A intron_variant UCEC-US 21 30409702 30409702 single base substitution C A missense_variant P184H 551C>A UCEC-US 21 30409702 30409702 single base substitution C A missense_variant P185H 554C>A UCEC-US 21 30411440 30411440 single base substitution G A downstream_gene_variant UCEC-US 21 30411440 30411440 single base substitution G A exon_variant UCEC-US 21 30411440 30411440 single base substitution G A intron_variant UCEC-US 21 30411440 30411440 single base substitution G A missense_variant V275M 823G>A UCEC-US 21 30411440 30411440 single base substitution G A missense_variant V276M 826G>A UCEC-US 21 30411452 30411452 single base substitution G T downstream_gene_variant UCEC-US 21 30411452 30411452 single base substitution G T exon_variant UCEC-US 21 30411452 30411452 single base substitution G T intron_variant UCEC-US 21 30411452 30411452 single base substitution G T stop_gained E279* 835G>T UCEC-US 21 30411452 30411452 single base substitution G T stop_gained E280* 838G>T UCEC-US 21 30414424 30414424 single base substitution C A intron_variant UCEC-US 21 30414424 30414424 single base substitution C A missense_variant T373N 1118C>A UCEC-US 21 30414424 30414424 single base substitution C A missense_variant T374N 1121C>A UCEC-US 21 30414424 30414424 single base substitution C A splice_region_variant UCEC-US 21 30415769 30415769 single base substitution A C exon_variant UCEC-US 21 30415769 30415769 single base substitution A C missense_variant K31T 92A>C UCEC-US 21 30415769 30415769 single base substitution A C missense_variant K401T 1202A>C UCEC-US 21 30415769 30415769 single base substitution A C missense_variant K402T 1205A>C UCEC-US 21 30418995 30418995 single base substitution G A exon_variant UCEC-US 21 30418995 30418995 single base substitution G A missense_variant R454Q 1361G>A UCEC-US 21 30418995 30418995 single base substitution G A missense_variant R455Q 1364G>A UCEC-US 21 30418995 30418995 single base substitution G A missense_variant R84Q 251G>A UCEC-US 21 30419197 30419197 single base substitution C T exon_variant UCEC-US 21 30419197 30419197 single base substitution C T synonymous_variant I151I 453C>T UCEC-US 21 30419197 30419197 single base substitution C T synonymous_variant I521I 1563C>T UCEC-US 21 30419197 30419197 single base substitution C T synonymous_variant I522I 1566C>T UCEC-US 21 30419372 30419372 single base substitution T G exon_variant UCEC-US 21 30419372 30419372 single base substitution T G missense_variant L210V 628T>G UCEC-US 21 30419372 30419372 single base substitution T G missense_variant L580V 1738T>G UCEC-US 21 30419372 30419372 single base substitution T G missense_variant L581V 1741T>G UCEC-US 21 30419452 30419452 single base substitution G T exon_variant UCEC-US 21 30419452 30419452 single base substitution G T missense_variant E236D 708G>T UCEC-US 21 30419452 30419452 single base substitution G T missense_variant E606D 1818G>T UCEC-US 21 30419452 30419452 single base substitution G T missense_variant E607D 1821G>T UCEC-US 21 30419452 30419452 single base substitution G T upstream_gene_variant UCEC-US 21 30419561 30419561 single base substitution G A exon_variant UCEC-US 21 30419561 30419561 single base substitution G A missense_variant E273K 817G>A UCEC-US 21 30419561 30419561 single base substitution G A missense_variant E643K 1927G>A UCEC-US 21 30419561 30419561 single base substitution G A missense_variant E644K 1930G>A UCEC-US 21 30419561 30419561 single base substitution G A upstream_gene_variant UCEC-US 21 30421130 30421130 single base substitution C A exon_variant UCEC-US 21 30421130 30421130 single base substitution C A missense_variant S316Y 947C>A UCEC-US 21 30421130 30421130 single base substitution C A missense_variant S686Y 2057C>A UCEC-US 21 30421130 30421130 single base substitution C A missense_variant S687Y 2060C>A UCEC-US 21 30421130 30421130 single base substitution C A upstream_gene_variant UCEC-US 21 30421166 30421166 single base substitution G T exon_variant UCEC-US 21 30421166 30421166 single base substitution G T missense_variant R328I 983G>T UCEC-US 21 30421166 30421166 single base substitution G T missense_variant R698I 2093G>T UCEC-US 21 30421166 30421166 single base substitution G T missense_variant R699I 2096G>T UCEC-US 21 30421166 30421166 single base substitution G T upstream_gene_variant UCEC-US 21 30421169 30421169 single base substitution T G exon_variant UCEC-US 21 30421169 30421169 single base substitution T G missense_variant F329C 986T>G UCEC-US 21 30421169 30421169 single base substitution T G missense_variant F699C 2096T>G UCEC-US 21 30421169 30421169 single base substitution T G missense_variant F700C 2099T>G UCEC-US 21 30421169 30421169 single base substitution T G upstream_gene_variant UCEC-US 21 30426135 30426135 single base substitution G T exon_variant UCEC-US 21 30426135 30426135 single base substitution G T stop_gained E365* 1093G>T UCEC-US 21 30426135 30426135 single base substitution G T stop_gained E735* 2203G>T UCEC-US 21 30426135 30426135 single base substitution G T stop_gained E736* 2206G>T UCEC-US 21 30426476 30426476 single base substitution G T exon_variant UCEC-US 21 30426476 30426476 single base substitution G T missense_variant A443S 1327G>T UCEC-US 21 30426476 30426476 single base substitution G T missense_variant A813S 2437G>T UCEC-US 21 30426476 30426476 single base substitution G T missense_variant A814S 2440G>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BS-A0TC-01 COSM1029763 c.1364G>A p.R455Q Substitution - Missense 21:29046674-29046674 + Pat_06_A COSM5858473 c.1118G>A p.R373K Substitution - Missense 21:29042100-29042100 + RK272_C01 COSM3701672 c.1396C>T p.H466Y Substitution - Missense 21:29046706-29046706 + TCGA-AK-3451-01 COSM478470 c.1233A>G p.E411E Substitution - coding silent 21:29043476-29043476 + 113803 COSM95433 c.517G>C p.E173Q Substitution - Missense 21:29037344-29037344 + S01023 COSM5666616 c.852G>C p.Q284H Substitution - Missense 21:29039145-29039145 + TCGA-AP-A0LM-01 COSM1029763 c.1364G>A p.R455Q Substitution - Missense 21:29046674-29046674 + TCGA-HT-7884-01 COSM3972731 c.1788T>C p.N596N Substitution - coding silent 21:29047098-29047098 + MZ1-PC COSM24330 c.1507G>T p.V503F Substitution - Missense 21:29046817-29046817 + TCGA-AX-A06H-01 COSM1029760 c.826G>A p.V276M Substitution - Missense 21:29039119-29039119 + TCGA-AX-A05Z-01 COSM1029768 c.2060C>A p.S687Y Substitution - Missense 21:29048809-29048809 + TCGA-AX-A0J0-01 COSM1029762 c.1205A>C p.K402T Substitution - Missense 21:29043448-29043448 + 585208 COSM326830 c.1639G>C p.E547Q Substitution - Missense 21:29046949-29046949 + 6T COSM3713403 c.633G>T p.M211I Substitution - Missense 21:29037460-29037460 + CSCC-54-T COSM4537437 c.241G>A p.G81S Substitution - Missense 21:29034837-29034837 + TCGA-G9-6384-01 COSM1130556 c.851A>G p.Q284R Substitution - Missense 21:29039144-29039144 + TCGA-G2-A3VY-01 COSM3799825 c.1429G>C p.E477Q Substitution - Missense 21:29046739-29046739 + RPMI-8226 COSM1681907 c.2273A>T p.H758L Substitution - Missense 21:29053881-29053881 + DLD1 COSM1681905 c.1159C>A p.L387I Substitution - Missense 21:29042508-29042508 + TCGA-FS-A1ZW-06 COSM3550049 c.1127C>T p.S376F Substitution - Missense 21:29042476-29042476 + HCT-15 COSM1681906 c.1490A>G p.H497R Substitution - Missense 21:29046800-29046800 + T3535 COSM4739657 c.702delA p.I236fs*8 Deletion - Frameshift 21:29038400-29038400 + TCGA-CG-4438-01 COSM4101015 c.1184G>C p.G395A Substitution - Missense 21:29043427-29043427 + 90624 COSM330394 c.1367G>A p.R456K Substitution - Missense 21:29046677-29046677 + YUROL COSM5392758 c.1939C>T p.R647* Substitution - Nonsense 21:29047249-29047249 + 448 COSM4435251 c.1498C>A p.Q500K Substitution - Missense 21:29046808-29046808 + TCGA-43-3920-01 COSM725404 c.129G>T p.V43V Substitution - coding silent 21:29030662-29030662 + LXFL529 COSM1197134 c.871C>T p.R291W Substitution - Missense 21:29039488-29039488 + CN-AML-08-T COSM5426140 c.1904A>G p.H635R Substitution - Missense 21:29047214-29047214 + 2293782 COSM4608938 c.1115G>T p.C372F Substitution - Missense 21:29042097-29042097 + I2L-P19Tb-Tumor-Organoid COSM5366247 c.2419A>G p.T807A Substitution - Missense 21:29054134-29054134 + TCGA-BR-8680-01 COSM4101017 c.1940G>A p.R647Q Substitution - Missense 21:29047250-29047250 + 585223 COSM324213 c.61G>C p.E21Q Substitution - Missense 21:29027974-29027974 + TCGA-BR-8680-01 COSM4101019 c.2154A>C p.E718D Substitution - Missense 21:29050139-29050139 + 2492720 COSM5723170 c.1657C>T p.P553S Substitution - Missense 21:29046967-29046967 + 9121_T COSM5038735 c.2037delT p.N679fs*7 Deletion - Frameshift 21:29048786-29048786 + LUAD-S01315 COSM345170 c.1757A>G p.H586R Substitution - Missense 21:29047067-29047067 + T2955 COSM4739656 c.440C>A p.P147Q Substitution - Missense 21:29036366-29036366 + I2L-P19Tb-Tumor-Biopsy COSM5366247 c.2419A>G p.T807A Substitution - Missense 21:29054134-29054134 + HCT-15 COSM1681905 c.1159C>A p.L387I Substitution - Missense 21:29042508-29042508 + TCGA-B5-A0JY-01 COSM278028 c.838G>T p.E280* Substitution - Nonsense 21:29039131-29039131 + LS411 COSM4614500 c.930_931insA p.M311fs*11 Insertion - Frameshift 21:29039547-29039548 + TCGA-60-2724-01 COSM725402 c.1369C>T p.Q457* Substitution - Nonsense 21:29046679-29046679 + STC252 COSM5057542 c.1069C>T p.R357C Substitution - Missense 21:29042051-29042051 + MEL-Ma-Mel-122 COSM1167686 c.1867_1868delAG p.R623fs*6 Deletion - Frameshift 21:29047177-29047178 + TCGA-BP-4770-01 COSM478469 c.1064T>C p.V355A Substitution - Missense 21:29042046-29042046 + TCGA-AX-A05Z-01 COSM1029765 c.1741T>G p.L581V Substitution - Missense 21:29047051-29047051 + TCGA-HU-A4GQ-01 COSM4101011 c.351C>T p.Y117Y Substitution - coding silent 21:29036277-29036277 + CHC892T COSM4794501 c.733-1G>A p.? Unknown 21:29039025-29039025 + Pat_63_B COSM5858474 c.1914T>G p.Y638* Substitution - Nonsense 21:29047224-29047224 + P07-5036 COSM248234 c.862A>T p.K288* Substitution - Nonsense 21:29039155-29039155 + TCGA-CG-5728-01 COSM4101010 c.248G>A p.G83D Substitution - Missense 21:29034844-29034844 + Pat_59_B COSM5858476 c.2378G>A p.W793* Substitution - Nonsense 21:29054093-29054093 + ccRCC-18 COSM1659223 c.1451A>T p.E484V Substitution - Missense 21:29046761-29046761 + 40M COSM5586975 c.1294C>T p.P432S Substitution - Missense 21:29043537-29043537 + TCGA-AP-A059-01 COSM1029758 c.519G>T p.E173D Substitution - Missense 21:29037346-29037346 + HCT15 COSM1681906 c.1490A>G p.H497R Substitution - Missense 21:29046800-29046800 + 107734 COSM95435 c.2344C>T p.P782S Substitution - Missense 21:29053952-29053952 + LS411 COSM725405 c.113A>G p.K38R Substitution - Missense 21:29030646-29030646 + 587222 COSM1231966 c.914G>A p.R305H Substitution - Missense 21:29039531-29039531 + TCGA-D1-A17U-01 COSM1029759 c.554C>A p.P185H Substitution - Missense 21:29037381-29037381 + HCT15 COSM1681905 c.1159C>A p.L387I Substitution - Missense 21:29042508-29042508 + TCGA-AA-A00N-01 COSM278028 c.838G>T p.E280* Substitution - Nonsense 21:29039131-29039131 + TCGA-DD-A73A-01 COSM4916540 c.738A>G p.P246P Substitution - coding silent 21:29039031-29039031 + HCC127T COSM5822837 c.371A>T p.Q124L Substitution - Missense 21:29036297-29036297 + ACA46 COSM5961719 c.51T>C p.S17S Substitution - coding silent 21:29027964-29027964 + TCGA-AM-5820-01 COSM3758820 c.423A>T p.Q141H Substitution - Missense 21:29036349-29036349 + TCGA-EE-A2MI-06 COSM3550047 c.13C>T p.R5W Substitution - Missense 21:29027926-29027926 + TCGA-A5-A0GB-01 COSM1029770 c.2099T>G p.F700C Substitution - Missense 21:29048848-29048848 + TCGA-BR-4361-01 COSM4101013 c.1176T>C p.D392D Substitution - coding silent 21:29042525-29042525 + TCGA-D1-A103-01 COSM1029763 c.1364G>A p.R455Q Substitution - Missense 21:29046674-29046674 + PT52 COSM5941070 c.1465G>A p.G489R Substitution - Missense 21:29046775-29046775 + PD11364a COSM5783000 c.1456T>A p.S486T Substitution - Missense 21:29046766-29046766 + TCGA-AP-A056-01 COSM1029771 c.2206G>T p.E736* Substitution - Nonsense 21:29053814-29053814 + 2492723 COSM5723170 c.1657C>T p.P553S Substitution - Missense 21:29046967-29046967 + YUSCA COSM5392756 c.1880A>G p.N627S Substitution - Missense 21:29047190-29047190 + TCGA-BS-A0UV-01 COSM1029769 c.2096G>T p.R699I Substitution - Missense 21:29048845-29048845 + PT42 COSM5926135 c.2106+7C>T p.? Unknown 21:29048862-29048862 + TCGA-D5-5538-01 COSM1413550 c.1922C>T p.T641I Substitution - Missense 21:29047232-29047232 + 113803 COSM95434 c.629T>C p.V210A Substitution - Missense 21:29037456-29037456 + AA COSM5414756 c.783G>A p.M261I Substitution - Missense 21:29039076-29039076 + TCGA-FS-A4F5-06 COSM3550052 c.2170C>T p.P724S Substitution - Missense 21:29050155-29050155 + tumor_4163639 COSM1161399 c.1562T>G p.M521R Substitution - Missense 21:29046872-29046872 + TCGA-22-4591-01 COSM725403 c.207T>C p.P69P Substitution - coding silent 21:29030740-29030740 + TCGA-AA-3681-01 COSM293103 c.1248G>A p.E416E Substitution - coding silent 21:29043491-29043491 + S02348 COSM5694472 c.2321_2322delAT p.N774fs*6 Deletion - Frameshift 21:29053929-29053930 + PTC-14C COSM4134859 c.1511T>G p.M504R Substitution - Missense 21:29046821-29046821 + pfg014T COSM1641437 c.1031-6C>T p.? Unknown 21:29042007-29042007 + 2492721 COSM5723170 c.1657C>T p.P553S Substitution - Missense 21:29046967-29046967 + ESCC_143 COSM1029766 c.1821G>T p.E607D Substitution - Missense 21:29047131-29047131 + PT34 COSM5911080 c.1181G>A p.S394N Substitution - Missense 21:29043424-29043424 + TCGA-CD-A4MG-01 COSM4101017 c.1940G>A p.R647Q Substitution - Missense 21:29047250-29047250 + ESCC_13 COSM5414756 c.783G>A p.M261I Substitution - Missense 21:29039076-29039076 + TCGA-D9-A6EC-06 COSM4406351 c.998A>C p.K333T Substitution - Missense 21:29040655-29040655 + BD124T COSM5494140 c.238C>T p.Q80* Substitution - Nonsense 21:29030771-29030771 + MD-090 COSM303527 c.1320_1321insA p.A443fs*27 Insertion - Frameshift 21:29043563-29043564 + S01864 COSM5671746 c.2077C>A p.L693I Substitution - Missense 21:29048826-29048826 + TCGA-BH-A0HA-01 COSM5216817 c.814delA p.K273fs*4 Deletion - Frameshift 21:29039107-29039107 + 0063_CRUK_PC_0063_T1_DNA COSM5420846 c.2432_2434delACT p.N811_S812>T Complex - deletion inframe 21:29054147-29054149 + 408 COSM4430477 c.1857T>G p.T619T Substitution - coding silent 21:29047167-29047167 + RD COSM1197134 c.871C>T p.R291W Substitution - Missense 21:29039488-29039488 + 66 COSM5744070 c.1792A>G p.S598G Substitution - Missense 21:29047102-29047102 + 2492722 COSM5723170 c.1657C>T p.P553S Substitution - Missense 21:29046967-29046967 + TCGA-D3-A3C7-06 COSM3550050 c.1658C>T p.P553L Substitution - Missense 21:29046968-29046968 + TCGA-D1-A15X-01 COSM1029757 c.204G>A p.K68K Substitution - coding silent 21:29030737-29030737 + SS6003323 COSM3414171 c.789G>A p.Q263Q Substitution - coding silent 21:29039082-29039082 + TCGA-BR-6452-01 COSM4101012 c.492A>G p.L164L Substitution - coding silent 21:29037319-29037319 + TCGA-DD-A4NQ-01 COSM4941012 c.1940G>T p.R647L Substitution - Missense 21:29047250-29047250 + TCGA-FS-A1ZQ-06 COSM3550048 c.532G>A p.E178K Substitution - Missense 21:29037359-29037359 + TCGA-66-2768-01 COSM725405 c.113A>G p.K38R Substitution - Missense 21:29030646-29030646 + OSCC-GB_00060111 COSM3713403 c.633G>T p.M211I Substitution - Missense 21:29037460-29037460 + TCGA-D1-A103-01 COSM1029761 c.1121C>A p.T374N Substitution - Missense 21:29042103-29042103 + PTC-14C COSM4134861 c.1512G>A p.M504I Substitution - Missense 21:29046822-29046822 + TCGA-AP-A059-01 COSM1029772 c.2440G>T p.A814S Substitution - Missense 21:29054155-29054155 + TCGA-BS-A0UV-01 COSM1029764 c.1566C>T p.I522I Substitution - coding silent 21:29046876-29046876 + TCGA-GF-A6C9-06 COSM4903396 c.553C>T p.P185S Substitution - Missense 21:29037380-29037380 + TCGA-AP-A0LD-01 COSM1029756 c.153T>C p.C51C Substitution - coding silent 21:29030686-29030686 + TCGA-D5-6535-01 COSM1413547 c.993T>G p.T331T Substitution - coding silent 21:29040650-29040650 + T578 COSM4739655 c.169G>A p.V57M Substitution - Missense 21:29030702-29030702 + TCGA-AM-5820-01 COSM3693755 c.279G>T p.K93N Substitution - Missense 21:29034875-29034875 + CSCC-49-T COSM4476490 c.2071C>T p.P691S Substitution - Missense 21:29048820-29048820 + SS6003324 COSM3414171 c.789G>A p.Q263Q Substitution - coding silent 21:29039082-29039082 + LC_C8 COSM1190329 c.2048A>G p.Q683R Substitution - Missense 21:29048797-29048797 + TP_2060 COSM5570230 c.1882A>C p.T628P Substitution - Missense 21:29047192-29047192 + 585223 COSM324212 c.60A>T p.L20F Substitution - Missense 21:29027973-29027973 + TCGA-BP-5202-01 COSM478471 c.1288G>T p.D430Y Substitution - Missense 21:29043531-29043531 + TCGA-AP-A05P-01 COSM1029767 c.1930G>A p.E644K Substitution - Missense 21:29047240-29047240 + CN-AML-NR-08-Dx COSM5426140 c.1904A>G p.H635R Substitution - Missense 21:29047214-29047214 + TCGA-B5-A11E-01 COSM1029766 c.1821G>T p.E607D Substitution - Missense 21:29047131-29047131 + T3724 COSM4739658 c.2172delT p.C726fs*29 Deletion - Frameshift 21:29050157-29050157 + TCGA-12-5301-01 COSM3405334 c.583G>A p.V195M Substitution - Missense 21:29037410-29037410 + CHC892T COSM4794501 c.733-1G>A p.? Unknown 21:29039025-29039025 + TCGA-CA-6717-01 COSM1413551 c.2423A>C p.K808T Substitution - Missense 21:29054138-29054138 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.99745;Hs.99785;Hs.99819 21q22.11 604735 2408018|CGAP|BC030777|A/T|coding|His141Gln|580|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AG - Frameshift p.R623Gfs*6 c.1867_1868delAG 21 30419498 CM A G Missense p.K177E c.529A>G 21 30409677 COREAD A G Missense p.K38R c.113A>G 21 30402967 LUSC A G Missense p.Q284R c.851A>G 21 30411465 PRAD A T Missense p.L20F c.60A>T 21 30400294 SCLC C A Missense p.F617L c.1851C>A 21 30419482 HNSC C A Missense p.P185H c.554C>A 21 30409702 UCEC C G Missense p.I367M c.1101C>G 21 30414404 BRCA C T IntronicSNV . c.1031-6C>T 21 30414328 STAD C T Missense p.P553L c.1658C>T 21 30419289 CM C T Missense p.P587S c.1759C>T 21 30419390 CM C T Missense p.P805L c.2414C>T 21 30426450 CM C T Missense p.S376F c.1127C>T 21 30414797 CM C T Nonsense p.Q457* c.1369C>T 21 30419000 LUSC C T Nonsense p.Q639* c.1915C>T 21 30419546 CM G A Missense p.E178K c.532G>A 21 30409680 CM G A Missense p.E644K c.1930G>A 21 30419561 UCEC G A Missense p.G83D c.248G>A 21 30407165 STAD G A Missense p.R455Q c.1364G>A 21 30418995 UCEC G A Missense p.V195M c.583G>A 21 30409731 GBM G A Missense p.V276M c.826G>A 21 30411440 UCEC G A Synonymous p.E416E c.1248G>A 21 30415812 COREAD G A Synonymous p.R5R c.15G>A 21 30400249 LUAD G C Missense p.E21Q c.61G>C 21 30400295 SCLC G C Missense p.E547Q c.1639G>C 21 30419270 SCLC G C Missense p.G395A c.1184G>C 21 30415748 STAD G T Missense p.D430Y c.1288G>T 21 30415852 RCCC G T Missense p.D54Y c.160G>T 21 30403014 LUAD G T Missense p.G489V c.1466G>T 21 30419097 CM G T Synonymous p.V43V c.129G>T 21 30402983 LUSC T C Synonymous p.C51C c.153T>C 21 30403007 UCEC T C Synonymous p.P69P c.207T>C 21 30403061 LUSC T C Synonymous p.S433S c.1299T>C 21 30415863 LUAD T G Missense p.F700C c.2099T>G 21 30421169 UCEC T G Missense p.M521R c.1562T>G 21 30419193 DLBCL T G Missense p.V676G c.2027T>G 21 30421097 LUAD