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 9 34241261 34241261 + Missense_Mutation SNP G G A TCGA-FD-A6TC-01A-21D-A339-08 TCGA-FD-A6TC-10A-21D-A339-08 g.chr9:34241261G>A c.238G>A c.(238-240)Gag>Aag p.E80K BLCA 9 34241318 34241318 + Missense_Mutation SNP G G A TCGA-XF-A8HH-01A-11D-A38G-08 TCGA-XF-A8HH-10A-01D-A38J-08 g.chr9:34241318G>A c.295G>A c.(295-297)Gat>Aat p.D99N BLCA 9 34241585 34241585 + Missense_Mutation SNP A A G TCGA-XF-A9SU-01A-31D-A391-08 TCGA-XF-A9SU-10A-01D-A394-08 g.chr9:34241585A>G c.562A>G c.(562-564)Act>Gct p.T188A BLCA 9 34249794 34249794 + Silent SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr9:34249794C>T c.1101C>T c.(1099-1101)ttC>ttT p.F367F BLCA 9 34250747 34250747 + Missense_Mutation SNP C C T TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr9:34250747C>T c.1358C>T c.(1357-1359)tCa>tTa p.S453L BRCA 9 34234326 34234326 + Silent SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr9:34234326C>T c.147C>T c.(145-147)gtC>gtT p.V49V BRCA 9 34241364 34241364 + Missense_Mutation SNP C C T TCGA-C8-A12Q-01A-11D-A10Y-09 TCGA-C8-A12Q-10A-01D-A110-09 g.chr9:34241364C>T c.341C>T c.(340-342)cCa>cTa p.P114L BRCA 9 34241537 34241537 + Missense_Mutation SNP A A C TCGA-EW-A2FV-01A-11D-A17D-09 TCGA-EW-A2FV-10A-01D-A17D-09 g.chr9:34241537A>C c.514A>C c.(514-516)Aaa>Caa p.K172Q BRCA 9 34241549 34241549 + Missense_Mutation SNP G G A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr9:34241549G>A c.526G>A c.(526-528)Gag>Aag p.E176K BRCA 9 34250668 34250668 + Missense_Mutation SNP C C T TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr9:34250668C>T c.1279C>T c.(1279-1281)Ctc>Ttc p.L427F BRCA 9 34251528 34251529 + Stop_Codon_Ins INS - - CTA TCGA-A8-A07J-01A-11W-A019-09 TCGA-A8-A07J-10A-01W-A021-09 g.chr9:34251528_34251529insCTA CESC 9 34249786 34249786 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 g.chr9:34249786C>T c.1093C>T c.(1093-1095)Cct>Tct p.P365S COAD 9 34241252 34241252 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr9:34241252C>T c.229C>T c.(229-231)Cgg>Tgg p.R77W COAD 9 34241406 34241406 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr9:34241406G>A c.383G>A c.(382-384)aGc>aAc p.S128N COADREAD 9 34241252 34241252 + Missense_Mutation SNP C C T TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr9:34241252C>T c.229C>T c.(229-231)Cgg>Tgg p.R77W COADREAD 9 34241406 34241406 + Missense_Mutation SNP G G A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr9:34241406G>A c.383G>A c.(382-384)aGc>aAc p.S128N ESCA 9 34241623 34241623 + Missense_Mutation SNP G G T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 g.chr9:34241623G>T c.600G>T c.(598-600)ttG>ttT p.L200F ESCA 9 34241819 34241819 + Missense_Mutation SNP C C A TCGA-L5-A43J-01A-12D-A247-09 TCGA-L5-A43J-11A-11D-A247-09 g.chr9:34241819C>A c.796C>A c.(796-798)Ctg>Atg p.L266M ESCA 9 34250735 34250735 + Missense_Mutation SNP T T C TCGA-L5-A8NT-01A-11D-A37C-09 TCGA-L5-A8NT-11A-11D-A37F-09 g.chr9:34250735T>C c.1346T>C c.(1345-1347)aTg>aCg p.M449T GBM 9 34234331 34234331 + Frame_Shift_Del DEL A A - TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 g.chr9:34234331delA c.152delA c.(151-153)gaafs p.E51fs GBMLGG 9 34234331 34234331 + Frame_Shift_Del DEL A A - TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 g.chr9:34234331delA c.152delA c.(151-153)gaafs p.E51fs GBMLGG 9 34241252 34241252 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:34241252C>T c.229C>T c.(229-231)Cgg>Tgg p.R77W GBMLGG 9 34250662 34250662 + Missense_Mutation SNP G G T TCGA-HT-7686-01A-11D-2253-08 TCGA-HT-7686-10A-01D-2253-08 g.chr9:34250662G>T c.1273G>T c.(1273-1275)Gac>Tac p.D425Y HNSC 9 34241766 34241766 + Missense_Mutation SNP T T C TCGA-CV-7183-01A-11D-2012-08 TCGA-CV-7183-10A-01D-2013-08 g.chr9:34241766T>C c.743T>C c.(742-744)cTg>cCg p.L248P HNSC 9 34249862 34249862 + Missense_Mutation SNP C C T TCGA-CV-6945-01A-11D-1912-08 TCGA-CV-6945-10A-01D-1912-08 g.chr9:34249862C>T c.1169C>T c.(1168-1170)cCc>cTc p.P390L KIPAN 9 34241773 34241773 + Silent SNP C C G TCGA-B0-5115-01A-01D-1421-08 TCGA-B0-5115-11A-01D-1421-08 g.chr9:34241773C>G c.750C>G c.(748-750)tcC>tcG p.S250S KIRC 9 34241773 34241773 + Silent SNP C C G TCGA-B0-5115-01A-01D-1421-08 TCGA-B0-5115-11A-01D-1421-08 g.chr9:34241773C>G c.750C>G c.(748-750)tcC>tcG p.S250S LGG 9 34241252 34241252 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr9:34241252C>T c.229C>T c.(229-231)Cgg>Tgg p.R77W LGG 9 34250662 34250662 + Missense_Mutation SNP G G T TCGA-HT-7686-01A-11D-2253-08 TCGA-HT-7686-10A-01D-2253-08 g.chr9:34250662G>T c.1273G>T c.(1273-1275)Gac>Tac p.D425Y LUAD 9 34241369 34241369 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chr9:34241369C>G c.346C>G c.(346-348)Cct>Gct p.P116A LUAD 9 34242054 34242054 + Missense_Mutation SNP C C G TCGA-49-4486-01A-01D-1265-08 TCGA-49-4486-11A-01D-1265-08 g.chr9:34242054C>G c.1031C>G c.(1030-1032)tCt>tGt p.S344C LUAD 9 34242054 34242054 + Missense_Mutation SNP C C G TCGA-91-8499-01A-11D-2393-08 TCGA-91-8499-10A-01D-2393-08 g.chr9:34242054C>G c.1031C>G c.(1030-1032)tCt>tGt p.S344C LUAD 9 34242063 34242063 + Missense_Mutation SNP C C G TCGA-95-7947-01A-11D-2184-08 TCGA-95-7947-10A-01D-2184-08 g.chr9:34242063C>G c.1040C>G c.(1039-1041)tCt>tGt p.S347C LUAD 9 34249796 34249796 + Nonsense_Mutation SNP C C G TCGA-05-4410-01A-21D-1855-08 TCGA-05-4410-10A-01D-1855-08 g.chr9:34249796C>G c.1103C>G c.(1102-1104)tCa>tGa p.S368* LUAD 9 34249823 34249823 + Missense_Mutation SNP G G T TCGA-55-A492-01A-11D-A24D-08 TCGA-55-A492-10A-01D-A24F-08 g.chr9:34249823G>T c.1130G>T c.(1129-1131)aGc>aTc p.S377I LUAD 9 34249829 34249829 + Missense_Mutation SNP C C T TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr9:34249829C>T c.1136C>T c.(1135-1137)cCc>cTc p.P379L LUAD 9 34249871 34249871 + Missense_Mutation SNP G G A TCGA-49-6743-01A-11D-1855-08 TCGA-49-6743-11A-01D-1855-08 g.chr9:34249871G>A c.1178G>A c.(1177-1179)cGg>cAg p.R393Q LUAD 9 34249887 34249887 + Silent SNP G G A TCGA-MN-A4N1-01A-11D-A24P-08 TCGA-MN-A4N1-10A-01D-A24P-08 g.chr9:34249887G>A c.1194G>A c.(1192-1194)acG>acA p.T398T LUAD 9 34249927 34249927 + Missense_Mutation SNP G G A TCGA-35-5375-01A-01D-1625-08 TCGA-35-5375-10A-01D-1625-08 g.chr9:34249927G>A c.1234G>A c.(1234-1236)Gcc>Acc p.A412T LUAD 9 34251520 34251520 + Missense_Mutation SNP G G A TCGA-86-8359-01A-11D-2323-08 TCGA-86-8359-10A-01D-2323-08 g.chr9:34251520G>A c.1499G>A c.(1498-1500)gGa>gAa p.G500E LUSC 9 34241603 34241603 + Missense_Mutation SNP C C G TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr9:34241603C>G c.580C>G c.(580-582)Cag>Gag p.Q194E LUSC 9 34241647 34241647 + Silent SNP G G C TCGA-46-3768-01A-01D-0983-08 TCGA-46-3768-10A-01D-0983-08 g.chr9:34241647G>C c.624G>C c.(622-624)gtG>gtC p.V208V PAAD 9 34241398 34241398 + Silent SNP G G A TCGA-US-A776-01A-13D-A33T-08 TCGA-US-A776-11A-11D-A33W-08 g.chr9:34241398G>A c.375G>A c.(373-375)caG>caA p.Q125Q PRAD 9 34249846 34249846 + Missense_Mutation SNP C C A TCGA-V1-A9ZK-01A-11D-A41K-08 TCGA-V1-A9ZK-10A-01D-A41N-08 g.chr9:34249846C>A c.1153C>A c.(1153-1155)Ctg>Atg p.L385M SARC 9 34241448 34241449 + Frame_Shift_Del DEL AG AG - TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 g.chr9:34241448_34241449delAG c.425_426delAG c.(424-426)cagfs p.Q142fs SKCM 9 34241423 34241423 + Missense_Mutation SNP C C T TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr9:34241423C>T c.400C>T c.(400-402)Cgg>Tgg p.R134W

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 9 34220981 34220981 single base substitution G A intron_variant BLCA-CN 9 34241873 34241873 single base substitution G A missense_variant A284T 850G>A BLCA-CN 9 34241873 34241873 single base substitution G A missense_variant A320T 958G>A BLCA-CN 9 34241873 34241873 single base substitution G A missense_variant A348T 1042G>A BLCA-US 9 34257247 34257247 single base substitution C T downstream_gene_variant BRCA-EU 9 34174013 34174013 deletion of <=200bp T - upstream_gene_variant BRCA-EU 9 34176250 34176250 single base substitution C G upstream_gene_variant BRCA-EU 9 34178313 34178313 single base substitution G A upstream_gene_variant BRCA-EU 9 34179134 34179134 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 9 34179134 34179134 single base substitution C T missense_variant S41L 122C>T BRCA-EU 9 34181796 34181796 single base substitution C A intron_variant BRCA-EU 9 34183406 34183406 single base substitution G T intron_variant BRCA-EU 9 34185023 34185023 single base substitution C T intron_variant BRCA-EU 9 34189154 34189154 single base substitution T C intron_variant BRCA-EU 9 34189878 34189878 deletion of <=200bp C - intron_variant BRCA-EU 9 34191627 34191627 single base substitution C G intron_variant BRCA-EU 9 34191991 34191991 single base substitution T A intron_variant BRCA-EU 9 34194447 34194447 single base substitution G T intron_variant BRCA-EU 9 34194687 34194687 single base substitution C T intron_variant BRCA-EU 9 34195122 34195122 single base substitution C T intron_variant BRCA-EU 9 34197465 34197465 single base substitution C T intron_variant BRCA-EU 9 34197543 34197543 single base substitution C A intron_variant BRCA-EU 9 34197871 34197871 single base substitution T A intron_variant BRCA-EU 9 34198698 34198698 single base substitution C T intron_variant BRCA-EU 9 34200379 34200379 single base substitution C G intron_variant BRCA-EU 9 34201957 34201957 single base substitution G C intron_variant BRCA-EU 9 34203232 34203232 single base substitution C T intron_variant BRCA-EU 9 34205433 34205433 single base substitution G A intron_variant BRCA-EU 9 34205758 34205758 single base substitution G A intron_variant BRCA-EU 9 34207197 34207197 single base substitution C G intron_variant BRCA-EU 9 34208183 34208183 single base substitution T A intron_variant BRCA-EU 9 34208266 34208266 single base substitution T G intron_variant BRCA-EU 9 34209494 34209494 single base substitution G C intron_variant BRCA-EU 9 34209796 34209796 deletion of <=200bp T - intron_variant BRCA-EU 9 34209833 34209833 single base substitution C A intron_variant BRCA-EU 9 34210493 34210493 single base substitution G T intron_variant BRCA-EU 9 34210498 34210498 single base substitution C G intron_variant BRCA-EU 9 34210719 34210719 single base substitution A T intron_variant BRCA-EU 9 34213169 34213169 single base substitution C T intron_variant BRCA-EU 9 34213508 34213508 single base substitution C G intron_variant BRCA-EU 9 34213675 34213675 single base substitution C G intron_variant BRCA-EU 9 34214410 34214410 single base substitution A G intron_variant BRCA-EU 9 34215536 34215536 single base substitution G T intron_variant BRCA-EU 9 34215536 34215536 single base substitution G T upstream_gene_variant BRCA-EU 9 34215767 34215768 deletion of <=200bp AT - intron_variant BRCA-EU 9 34215767 34215768 deletion of <=200bp AT - upstream_gene_variant BRCA-EU 9 34217179 34217179 single base substitution C T intron_variant BRCA-EU 9 34217179 34217179 single base substitution C T upstream_gene_variant BRCA-EU 9 34217862 34217862 single base substitution C G intron_variant BRCA-EU 9 34217862 34217862 single base substitution C G upstream_gene_variant BRCA-EU 9 34222107 34222107 single base substitution G A intron_variant BRCA-EU 9 34222313 34222313 single base substitution T C intron_variant BRCA-EU 9 34223205 34223205 single base substitution G A intron_variant BRCA-EU 9 34223743 34223743 single base substitution G C intron_variant BRCA-EU 9 34224145 34224145 deletion of <=200bp T - intron_variant BRCA-EU 9 34224332 34224332 single base substitution A G intron_variant BRCA-EU 9 34225216 34225216 deletion of <=200bp T - intron_variant BRCA-EU 9 34226933 34226933 single base substitution C T intron_variant BRCA-EU 9 34227297 34227297 insertion of <=200bp - TTTA intron_variant BRCA-EU 9 34227779 34227779 single base substitution A C intron_variant BRCA-EU 9 34230846 34230846 single base substitution T A intron_variant BRCA-EU 9 34232710 34232710 single base substitution C T intron_variant BRCA-EU 9 34236085 34236085 single base substitution T C intron_variant BRCA-EU 9 34236408 34236408 deletion of <=200bp T - intron_variant BRCA-EU 9 34238570 34238570 single base substitution C A intron_variant BRCA-EU 9 34240633 34240633 single base substitution C T intron_variant BRCA-EU 9 34241449 34241449 single base substitution G C missense_variant Q142H 426G>C BRCA-EU 9 34241449 34241449 single base substitution G C missense_variant Q178H 534G>C BRCA-EU 9 34241449 34241449 single base substitution G C missense_variant Q206H 618G>C BRCA-EU 9 34243739 34243739 single base substitution C G intron_variant BRCA-EU 9 34244148 34244148 single base substitution C G intron_variant BRCA-EU 9 34246171 34246171 single base substitution C T intron_variant BRCA-EU 9 34246779 34246779 single base substitution G A intron_variant BRCA-EU 9 34247835 34247835 single base substitution G C intron_variant BRCA-EU 9 34251960 34251960 single base substitution C T 3_prime_UTR_variant BRCA-EU 9 34254603 34254603 single base substitution G C downstream_gene_variant BRCA-EU 9 34256371 34256371 single base substitution G T downstream_gene_variant BRCA-FR 9 34178313 34178313 single base substitution G A upstream_gene_variant BRCA-FR 9 34179134 34179134 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 9 34179134 34179134 single base substitution C T missense_variant S41L 122C>T BRCA-FR 9 34180495 34180495 single base substitution G A intron_variant BRCA-FR 9 34181796 34181796 single base substitution C A intron_variant BRCA-FR 9 34201957 34201957 single base substitution G C intron_variant BRCA-FR 9 34205173 34205173 single base substitution C G intron_variant BRCA-FR 9 34218206 34218206 single base substitution T C intron_variant BRCA-FR 9 34218206 34218206 single base substitution T C upstream_gene_variant BRCA-FR 9 34218241 34218241 single base substitution T A intron_variant BRCA-FR 9 34218241 34218241 single base substitution T A upstream_gene_variant BRCA-FR 9 34222107 34222107 single base substitution G A intron_variant BRCA-FR 9 34230026 34230026 single base substitution C G intron_variant BRCA-FR 9 34230785 34230785 single base substitution C G intron_variant BRCA-FR 9 34254603 34254603 single base substitution G C downstream_gene_variant BRCA-KR 9 34211873 34211873 single base substitution G C intron_variant BRCA-UK 9 34193296 34193296 single base substitution G A intron_variant BRCA-UK 9 34195615 34195615 single base substitution G C intron_variant BRCA-UK 9 34232710 34232710 single base substitution C T intron_variant BRCA-UK 9 34241988 34241988 single base substitution C T missense_variant S322L 965C>T BRCA-UK 9 34241988 34241988 single base substitution C T missense_variant S358L 1073C>T BRCA-UK 9 34241988 34241988 single base substitution C T missense_variant S386L 1157C>T BRCA-US 9 34234326 34234326 single base substitution C T intron_variant BRCA-US 9 34234326 34234326 single base substitution C T synonymous_variant V113V 339C>T BRCA-US 9 34234326 34234326 single base substitution C T synonymous_variant V49V 147C>T BRCA-US 9 34241364 34241364 single base substitution C T missense_variant P114L 341C>T BRCA-US 9 34241364 34241364 single base substitution C T missense_variant P150L 449C>T BRCA-US 9 34241364 34241364 single base substitution C T missense_variant P178L 533C>T BRCA-US 9 34241537 34241537 single base substitution A C missense_variant K172Q 514A>C BRCA-US 9 34241537 34241537 single base substitution A C missense_variant K208Q 622A>C BRCA-US 9 34241537 34241537 single base substitution A C missense_variant K236Q 706A>C BRCA-US 9 34241549 34241549 single base substitution G A missense_variant E176K 526G>A BRCA-US 9 34241549 34241549 single base substitution G A missense_variant E212K 634G>A BRCA-US 9 34241549 34241549 single base substitution G A missense_variant E240K 718G>A BRCA-US 9 34250668 34250668 single base substitution C T missense_variant L366F 1096C>T BRCA-US 9 34250668 34250668 single base substitution C T missense_variant L427F 1279C>T BRCA-US 9 34250668 34250668 single base substitution C T missense_variant L463F 1387C>T BRCA-US 9 34250668 34250668 single base substitution C T missense_variant L491F 1471C>T BRCA-US 9 34255843 34255843 single base substitution G T downstream_gene_variant BRCA-US 9 34256034 34256034 single base substitution G A downstream_gene_variant BRCA-US 9 34256370 34256370 single base substitution T G downstream_gene_variant BRCA-US 9 34257302 34257302 single base substitution T G downstream_gene_variant BRCA-US 9 34257466 34257466 single base substitution C G downstream_gene_variant BRCA-US 9 34257474 34257474 insertion of <=200bp - C downstream_gene_variant BTCA-JP 9 34220762 34220762 deletion of <=200bp T - intron_variant BTCA-JP 9 34250038 34250038 single base substitution C T intron_variant BTCA-JP 9 34250814 34250814 single base substitution T C intron_variant BTCA-JP 9 34254605 34254605 single base substitution A G downstream_gene_variant BTCA-JP 9 34257427 34257427 single base substitution G A downstream_gene_variant CESC-US 9 34249786 34249786 single base substitution C T intron_variant CESC-US 9 34249786 34249786 single base substitution C T missense_variant P365S 1093C>T CESC-US 9 34249786 34249786 single base substitution C T missense_variant P401S 1201C>T CESC-US 9 34249786 34249786 single base substitution C T missense_variant P429S 1285C>T CESC-US 9 34256848 34256848 single base substitution C G downstream_gene_variant CLLE-ES 9 34227167 34227167 single base substitution G T intron_variant CLLE-ES 9 34231141 34231141 single base substitution G A intron_variant CLLE-ES 9 34256111 34256111 single base substitution T G downstream_gene_variant COAD-US 9 34241252 34241252 single base substitution C T missense_variant R113W 337C>T COAD-US 9 34241252 34241252 single base substitution C T missense_variant R141W 421C>T COAD-US 9 34241252 34241252 single base substitution C T missense_variant R77W 229C>T COAD-US 9 34241406 34241406 single base substitution G A missense_variant S128N 383G>A COAD-US 9 34241406 34241406 single base substitution G A missense_variant S164N 491G>A COAD-US 9 34241406 34241406 single base substitution G A missense_variant S192N 575G>A COAD-US 9 34256347 34256347 single base substitution C T downstream_gene_variant COAD-US 9 34256375 34256375 single base substitution G T downstream_gene_variant COAD-US 9 34257095 34257095 single base substitution G A downstream_gene_variant COCA-CN 9 34182671 34182671 single base substitution T C intron_variant COCA-CN 9 34182675 34182675 single base substitution T C intron_variant COCA-CN 9 34199820 34199820 single base substitution G T intron_variant COCA-CN 9 34202623 34202623 single base substitution G C intron_variant COCA-CN 9 34224417 34224417 single base substitution C T intron_variant COCA-CN 9 34224631 34224631 single base substitution C T intron_variant COCA-CN 9 34225622 34225622 single base substitution A G intron_variant COCA-CN 9 34226127 34226127 single base substitution G T intron_variant COCA-CN 9 34229305 34229305 single base substitution C T intron_variant COCA-CN 9 34234120 34234120 single base substitution G A intron_variant COCA-CN 9 34234349 34234349 single base substitution A C intron_variant COCA-CN 9 34235840 34235840 single base substitution C T intron_variant COCA-CN 9 34241662 34241662 single base substitution G A synonymous_variant E213E 639G>A COCA-CN 9 34241662 34241662 single base substitution G A synonymous_variant E249E 747G>A COCA-CN 9 34241662 34241662 single base substitution G A synonymous_variant E277E 831G>A COCA-CN 9 34250649 34250649 single base substitution T G splice_region_variant COCA-CN 9 34250736 34250736 single base substitution G T missense_variant M388I 1164G>T COCA-CN 9 34250736 34250736 single base substitution G T missense_variant M449I 1347G>T COCA-CN 9 34250736 34250736 single base substitution G T missense_variant M485I 1455G>T COCA-CN 9 34250736 34250736 single base substitution G T missense_variant M513I 1539G>T COCA-CN 9 34251375 34251375 single base substitution T G intron_variant COCA-CN 9 34254508 34254508 single base substitution T G downstream_gene_variant COCA-CN 9 34255757 34255757 single base substitution C T downstream_gene_variant COCA-CN 9 34256375 34256375 single base substitution G A downstream_gene_variant COCA-CN 9 34256561 34256561 single base substitution C T downstream_gene_variant EOPC-DE 9 34203374 34203374 single base substitution G C intron_variant EOPC-DE 9 34203374 34203374 single base substitution G C splice_region_variant EOPC-DE 9 34234636 34234636 single base substitution G T intron_variant ESAD-UK 9 34177546 34177546 deletion of <=200bp T - upstream_gene_variant ESAD-UK 9 34179741 34179741 single base substitution C G intron_variant ESAD-UK 9 34180669 34180669 single base substitution G T intron_variant ESAD-UK 9 34181967 34181967 single base substitution A T intron_variant ESAD-UK 9 34182264 34182264 single base substitution C T intron_variant ESAD-UK 9 34184276 34184276 single base substitution A C intron_variant ESAD-UK 9 34186804 34186811 deletion of <=200bp TCTTTTCA - intron_variant ESAD-UK 9 34187828 34187828 single base substitution T A intron_variant ESAD-UK 9 34187829 34187829 single base substitution A T intron_variant ESAD-UK 9 34188282 34188282 single base substitution T C intron_variant ESAD-UK 9 34188903 34188903 single base substitution C T intron_variant ESAD-UK 9 34190136 34190136 single base substitution A G intron_variant ESAD-UK 9 34192712 34192712 single base substitution A T intron_variant ESAD-UK 9 34194848 34194848 single base substitution C A intron_variant ESAD-UK 9 34198997 34198997 single base substitution C G intron_variant ESAD-UK 9 34199050 34199050 single base substitution C T intron_variant ESAD-UK 9 34199290 34199290 single base substitution C G intron_variant ESAD-UK 9 34199517 34199517 single base substitution C G intron_variant ESAD-UK 9 34199541 34199541 single base substitution C G intron_variant ESAD-UK 9 34199642 34199642 single base substitution C G intron_variant ESAD-UK 9 34199975 34199975 single base substitution C T intron_variant ESAD-UK 9 34200741 34200741 single base substitution C G intron_variant ESAD-UK 9 34204836 34204836 insertion of <=200bp - T intron_variant ESAD-UK 9 34209191 34209191 single base substitution C T intron_variant ESAD-UK 9 34209927 34209927 single base substitution A G intron_variant ESAD-UK 9 34215763 34215763 insertion of <=200bp - ACACAT intron_variant ESAD-UK 9 34215763 34215763 insertion of <=200bp - ACACAT upstream_gene_variant ESAD-UK 9 34223328 34223328 single base substitution T C intron_variant ESAD-UK 9 34223922 34223922 deletion of <=200bp T - intron_variant ESAD-UK 9 34224099 34224099 single base substitution C G intron_variant ESAD-UK 9 34225531 34225531 single base substitution T G intron_variant ESAD-UK 9 34225986 34225986 single base substitution A G intron_variant ESAD-UK 9 34229880 34229880 single base substitution C T intron_variant ESAD-UK 9 34230171 34230171 single base substitution C A intron_variant ESAD-UK 9 34230852 34230852 single base substitution T A intron_variant ESAD-UK 9 34230902 34230902 single base substitution G T intron_variant ESAD-UK 9 34232079 34232079 single base substitution G A intron_variant ESAD-UK 9 34234433 34234433 single base substitution G A intron_variant ESAD-UK 9 34235047 34235047 single base substitution A G intron_variant ESAD-UK 9 34237272 34237272 single base substitution C T intron_variant ESAD-UK 9 34243027 34243027 single base substitution A G intron_variant ESAD-UK 9 34246153 34246153 single base substitution C G intron_variant ESAD-UK 9 34249886 34249886 single base substitution C T intron_variant ESAD-UK 9 34249886 34249886 single base substitution C T missense_variant T398M 1193C>T ESAD-UK 9 34249886 34249886 single base substitution C T missense_variant T434M 1301C>T ESAD-UK 9 34249886 34249886 single base substitution C T missense_variant T462M 1385C>T ESAD-UK 9 34257191 34257191 single base substitution G A downstream_gene_variant ESAD-UK 9 34257202 34257202 single base substitution C T downstream_gene_variant ESCA-CN 9 34254474 34254474 single base substitution C T downstream_gene_variant GBM-US 9 34234331 34234331 deletion of <=200bp A - frameshift_variant E115 GBM-US 9 34234331 34234331 deletion of <=200bp A - frameshift_variant E51 GBM-US 9 34234331 34234331 deletion of <=200bp A - intron_variant KIRC-US 9 34241773 34241773 single base substitution C G synonymous_variant S250S 750C>G KIRC-US 9 34241773 34241773 single base substitution C G synonymous_variant S286S 858C>G KIRC-US 9 34241773 34241773 single base substitution C G synonymous_variant S314S 942C>G LAML-KR 9 34181409 34181409 single base substitution C A intron_variant LAML-KR 9 34226139 34226139 single base substitution G T intron_variant LAML-KR 9 34230260 34230260 single base substitution C T intron_variant LAML-KR 9 34242094 34242094 single base substitution T A missense_variant N357K 1071T>A LAML-KR 9 34242094 34242094 single base substitution T A missense_variant N393K 1179T>A LAML-KR 9 34242094 34242094 single base substitution T A missense_variant N421K 1263T>A LGG-US 9 34250662 34250662 single base substitution G T missense_variant D364Y 1090G>T LGG-US 9 34250662 34250662 single base substitution G T missense_variant D425Y 1273G>T LGG-US 9 34250662 34250662 single base substitution G T missense_variant D461Y 1381G>T LGG-US 9 34250662 34250662 single base substitution G T missense_variant D489Y 1465G>T LGG-US 9 34256165 34256165 single base substitution T C downstream_gene_variant LGG-US 9 34256411 34256411 single base substitution G T downstream_gene_variant LICA-FR 9 34181118 34181118 single base substitution T C intron_variant LICA-FR 9 34182667 34182667 single base substitution T C intron_variant LICA-FR 9 34184964 34184964 single base substitution C A intron_variant LICA-FR 9 34200373 34200377 deletion of <=200bp TCTGA - intron_variant LICA-FR 9 34224034 34224034 single base substitution C T intron_variant LICA-FR 9 34231932 34231932 single base substitution A G intron_variant LICA-FR 9 34232607 34232607 single base substitution A G intron_variant LICA-FR 9 34249906 34249906 single base substitution T C intron_variant LICA-FR 9 34249906 34249906 single base substitution T C missense_variant S405P 1213T>C LICA-FR 9 34249906 34249906 single base substitution T C missense_variant S441P 1321T>C LICA-FR 9 34249906 34249906 single base substitution T C missense_variant S469P 1405T>C LICA-FR 9 34255979 34255979 single base substitution C T downstream_gene_variant LICA-FR 9 34256399 34256399 single base substitution T C downstream_gene_variant LINC-JP 9 34176972 34176972 single base substitution G T upstream_gene_variant LINC-JP 9 34210022 34210022 single base substitution G T intron_variant LINC-JP 9 34211843 34211843 insertion of <=200bp - T intron_variant LINC-JP 9 34216514 34216514 single base substitution G T intron_variant LINC-JP 9 34216514 34216514 single base substitution G T upstream_gene_variant LINC-JP 9 34241167 34241167 single base substitution T A intron_variant LINC-JP 9 34247208 34247208 single base substitution T A intron_variant LINC-JP 9 34247346 34247346 single base substitution A G intron_variant LINC-JP 9 34256425 34256425 single base substitution T C downstream_gene_variant LIRI-JP 9 34174611 34174611 single base substitution T C upstream_gene_variant LIRI-JP 9 34177356 34177356 single base substitution A G upstream_gene_variant LIRI-JP 9 34178425 34178425 single base substitution T G upstream_gene_variant LIRI-JP 9 34180758 34180758 single base substitution T C intron_variant LIRI-JP 9 34182089 34182089 single base substitution G A intron_variant LIRI-JP 9 34184687 34184687 single base substitution C G intron_variant LIRI-JP 9 34185113 34185113 single base substitution G A intron_variant LIRI-JP 9 34185194 34185194 single base substitution A T intron_variant LIRI-JP 9 34185943 34185943 single base substitution A G intron_variant LIRI-JP 9 34187398 34187398 single base substitution G C intron_variant LIRI-JP 9 34189020 34189020 single base substitution T C intron_variant LIRI-JP 9 34189969 34189969 single base substitution A G intron_variant LIRI-JP 9 34190023 34190023 single base substitution A G intron_variant LIRI-JP 9 34191817 34191817 single base substitution A G intron_variant LIRI-JP 9 34192402 34192402 single base substitution A G intron_variant LIRI-JP 9 34193374 34193374 single base substitution T G intron_variant LIRI-JP 9 34193679 34193679 single base substitution C T intron_variant LIRI-JP 9 34194033 34194033 single base substitution A G intron_variant LIRI-JP 9 34194263 34194263 deletion of <=200bp T - intron_variant LIRI-JP 9 34194529 34194529 single base substitution G T intron_variant LIRI-JP 9 34195507 34195507 single base substitution A G intron_variant LIRI-JP 9 34195698 34195698 single base substitution C T intron_variant LIRI-JP 9 34196721 34196721 single base substitution G T intron_variant LIRI-JP 9 34199380 34199380 single base substitution T A intron_variant LIRI-JP 9 34199888 34199888 single base substitution T A intron_variant LIRI-JP 9 34200148 34200148 single base substitution T G intron_variant LIRI-JP 9 34200202 34200202 single base substitution A G intron_variant LIRI-JP 9 34202546 34202546 single base substitution C A intron_variant LIRI-JP 9 34204173 34204173 single base substitution A G intron_variant LIRI-JP 9 34206730 34206730 single base substitution A C intron_variant LIRI-JP 9 34207106 34207106 single base substitution A G intron_variant LIRI-JP 9 34207302 34207302 single base substitution C A intron_variant LIRI-JP 9 34207837 34207837 single base substitution T G intron_variant LIRI-JP 9 34208244 34208244 single base substitution A C intron_variant LIRI-JP 9 34212191 34212191 single base substitution A T intron_variant LIRI-JP 9 34212580 34212580 single base substitution T C intron_variant LIRI-JP 9 34213171 34213171 single base substitution G A intron_variant LIRI-JP 9 34213878 34213878 single base substitution A C intron_variant LIRI-JP 9 34215508 34215508 single base substitution C A intron_variant LIRI-JP 9 34215508 34215508 single base substitution C A upstream_gene_variant LIRI-JP 9 34217187 34217187 single base substitution G A intron_variant LIRI-JP 9 34217187 34217187 single base substitution G A upstream_gene_variant LIRI-JP 9 34217226 34217226 single base substitution A G intron_variant LIRI-JP 9 34217226 34217226 single base substitution A G upstream_gene_variant LIRI-JP 9 34221435 34221435 single base substitution G T intron_variant LIRI-JP 9 34222178 34222187 deletion of <=200bp TGGGGACGTG - intron_variant LIRI-JP 9 34224304 34224304 single base substitution A G intron_variant LIRI-JP 9 34225884 34225884 insertion of <=200bp - TT intron_variant LIRI-JP 9 34227865 34227865 single base substitution A T intron_variant LIRI-JP 9 34231403 34231403 single base substitution G A intron_variant LIRI-JP 9 34235214 34235214 single base substitution T G intron_variant LIRI-JP 9 34237295 34237296 deletion of <=200bp AG - intron_variant LIRI-JP 9 34237342 34237342 single base substitution A C intron_variant LIRI-JP 9 34237620 34237620 single base substitution T C intron_variant LIRI-JP 9 34237748 34237748 single base substitution T G intron_variant LIRI-JP 9 34238939 34238939 single base substitution T C intron_variant LIRI-JP 9 34239131 34239131 single base substitution C T intron_variant LIRI-JP 9 34239241 34239241 single base substitution C T intron_variant LIRI-JP 9 34239678 34239678 single base substitution A G intron_variant LIRI-JP 9 34240016 34240016 single base substitution A G intron_variant LIRI-JP 9 34240073 34240073 single base substitution T G intron_variant LIRI-JP 9 34242393 34242393 single base substitution G C intron_variant LIRI-JP 9 34243453 34243453 single base substitution A G intron_variant LIRI-JP 9 34244210 34244210 single base substitution T C intron_variant LIRI-JP 9 34246072 34246072 single base substitution T A intron_variant LIRI-JP 9 34246923 34246923 single base substitution A G intron_variant LIRI-JP 9 34248172 34248172 single base substitution T C intron_variant LIRI-JP 9 34251779 34251779 single base substitution A G 3_prime_UTR_variant LIRI-JP 9 34252377 34252377 single base substitution A G 3_prime_UTR_variant LIRI-JP 9 34254877 34254877 single base substitution C A downstream_gene_variant LIRI-JP 9 34257233 34257233 single base substitution C T downstream_gene_variant LUSC-KR 9 34179935 34179935 single base substitution G T intron_variant LUSC-KR 9 34180252 34180252 single base substitution C G intron_variant LUSC-KR 9 34181109 34181109 single base substitution G T intron_variant LUSC-KR 9 34181132 34181132 single base substitution G T intron_variant LUSC-KR 9 34182614 34182614 single base substitution C T intron_variant LUSC-KR 9 34191305 34191305 single base substitution C T intron_variant LUSC-KR 9 34193041 34193041 single base substitution A C intron_variant LUSC-KR 9 34197604 34197604 single base substitution G A intron_variant LUSC-KR 9 34199349 34199349 single base substitution G T intron_variant LUSC-KR 9 34202623 34202623 single base substitution G C intron_variant LUSC-KR 9 34204394 34204394 single base substitution T C intron_variant LUSC-KR 9 34208327 34208327 single base substitution C T intron_variant LUSC-KR 9 34208967 34208967 single base substitution C G intron_variant LUSC-KR 9 34210163 34210163 single base substitution A G intron_variant LUSC-KR 9 34210169 34210169 single base substitution C T intron_variant LUSC-KR 9 34220308 34220308 single base substitution C A intron_variant LUSC-KR 9 34220308 34220308 single base substitution C A upstream_gene_variant LUSC-KR 9 34221613 34221613 single base substitution C G intron_variant LUSC-KR 9 34223743 34223743 single base substitution G T intron_variant LUSC-KR 9 34225291 34225291 single base substitution C G intron_variant LUSC-KR 9 34225504 34225504 single base substitution G T intron_variant LUSC-KR 9 34226333 34226333 single base substitution C G intron_variant LUSC-KR 9 34227062 34227062 single base substitution C T intron_variant LUSC-KR 9 34227499 34227499 single base substitution C T intron_variant LUSC-KR 9 34228547 34228547 single base substitution C T intron_variant LUSC-KR 9 34234330 34234330 single base substitution G A intron_variant LUSC-KR 9 34234330 34234330 single base substitution G A missense_variant E115K 343G>A LUSC-KR 9 34234330 34234330 single base substitution G A missense_variant E51K 151G>A LUSC-KR 9 34235327 34235327 single base substitution G A intron_variant LUSC-KR 9 34236302 34236302 single base substitution A G intron_variant LUSC-KR 9 34237403 34237403 single base substitution G A intron_variant LUSC-KR 9 34249563 34249563 single base substitution A T intron_variant LUSC-KR 9 34252415 34252415 single base substitution C T 3_prime_UTR_variant LUSC-KR 9 34254542 34254542 single base substitution T C downstream_gene_variant LUSC-KR 9 34255481 34255481 single base substitution C A downstream_gene_variant LUSC-US 9 34241603 34241603 single base substitution C G missense_variant Q194E 580C>G LUSC-US 9 34241603 34241603 single base substitution C G missense_variant Q230E 688C>G LUSC-US 9 34241603 34241603 single base substitution C G missense_variant Q258E 772C>G LUSC-US 9 34241647 34241647 single base substitution G C synonymous_variant V208V 624G>C LUSC-US 9 34241647 34241647 single base substitution G C synonymous_variant V244V 732G>C LUSC-US 9 34241647 34241647 single base substitution G C synonymous_variant V272V 816G>C LUSC-US 9 34256481 34256481 single base substitution C T downstream_gene_variant MALY-DE 9 34177456 34177456 insertion of <=200bp - T upstream_gene_variant MALY-DE 9 34178144 34178144 insertion of <=200bp - AT upstream_gene_variant MALY-DE 9 34190695 34190695 single base substitution A C intron_variant MALY-DE 9 34191991 34191991 single base substitution T A intron_variant MALY-DE 9 34196467 34196467 single base substitution C T intron_variant MALY-DE 9 34204679 34204679 single base substitution T C intron_variant MALY-DE 9 34204994 34204994 single base substitution C T intron_variant MALY-DE 9 34211672 34211672 single base substitution T A intron_variant MALY-DE 9 34212432 34212432 single base substitution T A intron_variant MALY-DE 9 34215847 34215847 single base substitution T A intron_variant MALY-DE 9 34215847 34215847 single base substitution T A upstream_gene_variant MALY-DE 9 34234637 34234638 deletion of <=200bp AT - intron_variant MALY-DE 9 34243655 34243655 single base substitution T G intron_variant MALY-DE 9 34255860 34255860 single base substitution C T downstream_gene_variant MALY-DE 9 34256523 34256523 single base substitution C T downstream_gene_variant MELA-AU 9 34174396 34174396 single base substitution G T upstream_gene_variant MELA-AU 9 34174803 34174803 single base substitution T A upstream_gene_variant MELA-AU 9 34174911 34174911 deletion of <=200bp T - upstream_gene_variant MELA-AU 9 34175160 34175160 single base substitution G A upstream_gene_variant MELA-AU 9 34175390 34175390 single base substitution G A upstream_gene_variant MELA-AU 9 34175562 34175562 single base substitution G A upstream_gene_variant MELA-AU 9 34175619 34175619 single base substitution C T upstream_gene_variant MELA-AU 9 34175728 34175728 single base substitution G C upstream_gene_variant MELA-AU 9 34175800 34175800 single base substitution C T upstream_gene_variant MELA-AU 9 34176157 34176157 single base substitution C T upstream_gene_variant MELA-AU 9 34178294 34178294 single base substitution C T upstream_gene_variant MELA-AU 9 34178444 34178444 single base substitution G A upstream_gene_variant MELA-AU 9 34178524 34178524 single base substitution G A upstream_gene_variant MELA-AU 9 34179042 34179043 multiple base substitution (>=2bp and <=200bp) GG AA 5_prime_UTR_variant MELA-AU 9 34179042 34179043 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant RE10RK MELA-AU 9 34179750 34179750 single base substitution G A intron_variant MELA-AU 9 34181029 34181029 deletion of <=200bp A - intron_variant MELA-AU 9 34181679 34181679 single base substitution C T intron_variant MELA-AU 9 34182313 34182313 single base substitution G A intron_variant MELA-AU 9 34182667 34182667 single base substitution T C intron_variant MELA-AU 9 34182675 34182675 single base substitution T C intron_variant MELA-AU 9 34184431 34184431 single base substitution C T intron_variant MELA-AU 9 34184861 34184861 single base substitution C T intron_variant MELA-AU 9 34184949 34184949 single base substitution T A intron_variant MELA-AU 9 34184962 34184962 single base substitution C T intron_variant MELA-AU 9 34185554 34185554 single base substitution A T intron_variant MELA-AU 9 34185891 34185891 single base substitution A G intron_variant MELA-AU 9 34186083 34186083 single base substitution C T intron_variant MELA-AU 9 34186396 34186396 single base substitution G A intron_variant MELA-AU 9 34187416 34187416 single base substitution G A intron_variant MELA-AU 9 34187855 34187855 single base substitution C T intron_variant MELA-AU 9 34188632 34188632 single base substitution C T intron_variant MELA-AU 9 34189048 34189048 single base substitution C T intron_variant MELA-AU 9 34189053 34189053 single base substitution C G intron_variant MELA-AU 9 34189605 34189605 single base substitution T G intron_variant MELA-AU 9 34190953 34190953 single base substitution G A intron_variant MELA-AU 9 34192083 34192083 single base substitution C T intron_variant MELA-AU 9 34192408 34192408 single base substitution G A intron_variant MELA-AU 9 34193499 34193499 single base substitution T C intron_variant MELA-AU 9 34193596 34193596 single base substitution C T intron_variant MELA-AU 9 34194908 34194908 single base substitution T C intron_variant MELA-AU 9 34195259 34195259 single base substitution A C intron_variant MELA-AU 9 34196235 34196235 single base substitution G A intron_variant MELA-AU 9 34197402 34197402 single base substitution A G intron_variant MELA-AU 9 34198618 34198618 single base substitution G T intron_variant MELA-AU 9 34199619 34199619 single base substitution C T intron_variant MELA-AU 9 34199625 34199625 single base substitution C T intron_variant MELA-AU 9 34200271 34200271 single base substitution T G intron_variant MELA-AU 9 34200792 34200792 single base substitution G A intron_variant MELA-AU 9 34201164 34201164 single base substitution T C intron_variant MELA-AU 9 34204604 34204604 single base substitution C T intron_variant MELA-AU 9 34206101 34206101 single base substitution C T intron_variant MELA-AU 9 34206432 34206432 single base substitution C T intron_variant MELA-AU 9 34206516 34206517 multiple base substitution (>=2bp and <=200bp) GA AG intron_variant MELA-AU 9 34208119 34208119 single base substitution C T intron_variant MELA-AU 9 34208286 34208286 single base substitution C T intron_variant MELA-AU 9 34208423 34208423 single base substitution C T intron_variant MELA-AU 9 34208826 34208826 single base substitution C T intron_variant MELA-AU 9 34209184 34209184 single base substitution C T intron_variant MELA-AU 9 34209759 34209759 single base substitution C T intron_variant MELA-AU 9 34211888 34211888 single base substitution G A intron_variant MELA-AU 9 34211897 34211897 single base substitution C T intron_variant MELA-AU 9 34212353 34212353 single base substitution C T intron_variant MELA-AU 9 34213256 34213256 single base substitution C T intron_variant MELA-AU 9 34213336 34213336 single base substitution C T intron_variant MELA-AU 9 34213391 34213391 single base substitution C T intron_variant MELA-AU 9 34214427 34214427 single base substitution C T intron_variant MELA-AU 9 34215071 34215071 single base substitution C T intron_variant MELA-AU 9 34216035 34216035 single base substitution T C intron_variant MELA-AU 9 34216035 34216035 single base substitution T C upstream_gene_variant MELA-AU 9 34216144 34216144 single base substitution C T intron_variant MELA-AU 9 34216144 34216144 single base substitution C T upstream_gene_variant MELA-AU 9 34216145 34216145 single base substitution C A intron_variant MELA-AU 9 34216145 34216145 single base substitution C A upstream_gene_variant MELA-AU 9 34216422 34216422 single base substitution C T intron_variant MELA-AU 9 34216422 34216422 single base substitution C T upstream_gene_variant MELA-AU 9 34216559 34216559 single base substitution G A intron_variant MELA-AU 9 34216559 34216559 single base substitution G A upstream_gene_variant MELA-AU 9 34218076 34218076 single base substitution C T intron_variant MELA-AU 9 34218076 34218076 single base substitution C T upstream_gene_variant MELA-AU 9 34218204 34218204 single base substitution C T intron_variant MELA-AU 9 34218204 34218204 single base substitution C T upstream_gene_variant MELA-AU 9 34219491 34219491 single base substitution C T intron_variant MELA-AU 9 34219491 34219491 single base substitution C T upstream_gene_variant MELA-AU 9 34220879 34220879 single base substitution C T intron_variant MELA-AU 9 34221032 34221032 single base substitution C T intron_variant MELA-AU 9 34223254 34223254 single base substitution C T intron_variant MELA-AU 9 34224214 34224214 single base substitution T G intron_variant MELA-AU 9 34224779 34224779 single base substitution T G intron_variant MELA-AU 9 34224814 34224814 single base substitution G T intron_variant MELA-AU 9 34226137 34226137 single base substitution G T intron_variant MELA-AU 9 34226726 34226726 single base substitution C T intron_variant MELA-AU 9 34226956 34226956 single base substitution C T intron_variant MELA-AU 9 34227057 34227057 single base substitution C T intron_variant MELA-AU 9 34227292 34227292 single base substitution T G intron_variant MELA-AU 9 34228612 34228612 single base substitution G A intron_variant MELA-AU 9 34228777 34228777 single base substitution C T intron_variant MELA-AU 9 34229314 34229314 single base substitution G A intron_variant MELA-AU 9 34229626 34229626 single base substitution C T intron_variant MELA-AU 9 34230252 34230252 single base substitution C G intron_variant MELA-AU 9 34230596 34230596 single base substitution T A intron_variant MELA-AU 9 34233172 34233172 single base substitution C T intron_variant MELA-AU 9 34235206 34235206 single base substitution A G intron_variant MELA-AU 9 34235327 34235327 single base substitution G A intron_variant MELA-AU 9 34235572 34235572 single base substitution C T intron_variant MELA-AU 9 34238006 34238006 single base substitution C T intron_variant MELA-AU 9 34238607 34238608 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 9 34239005 34239005 single base substitution C T intron_variant MELA-AU 9 34239571 34239571 single base substitution G A intron_variant MELA-AU 9 34242074 34242074 single base substitution G A missense_variant E351K 1051G>A MELA-AU 9 34242074 34242074 single base substitution G A missense_variant E387K 1159G>A MELA-AU 9 34242074 34242074 single base substitution G A missense_variant E415K 1243G>A MELA-AU 9 34242537 34242537 single base substitution C T intron_variant MELA-AU 9 34242632 34242632 single base substitution C T intron_variant MELA-AU 9 34242737 34242737 single base substitution G C intron_variant MELA-AU 9 34243844 34243844 single base substitution A G intron_variant MELA-AU 9 34246692 34246692 single base substitution G A intron_variant MELA-AU 9 34246882 34246882 single base substitution A T intron_variant MELA-AU 9 34246954 34246955 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 9 34247710 34247710 single base substitution C T intron_variant MELA-AU 9 34248145 34248145 single base substitution C T intron_variant MELA-AU 9 34248461 34248461 single base substitution G A intron_variant MELA-AU 9 34248829 34248829 single base substitution G A intron_variant MELA-AU 9 34250719 34250719 single base substitution G A missense_variant E383K 1147G>A MELA-AU 9 34250719 34250719 single base substitution G A missense_variant E444K 1330G>A MELA-AU 9 34250719 34250719 single base substitution G A missense_variant E480K 1438G>A MELA-AU 9 34250719 34250719 single base substitution G A missense_variant E508K 1522G>A MELA-AU 9 34250786 34250786 single base substitution C T intron_variant MELA-AU 9 34251451 34251451 single base substitution T A missense_variant I416N 1247T>A MELA-AU 9 34251451 34251451 single base substitution T A missense_variant I477N 1430T>A MELA-AU 9 34251451 34251451 single base substitution T A missense_variant I513N 1538T>A MELA-AU 9 34251451 34251451 single base substitution T A missense_variant I541N 1622T>A MELA-AU 9 34251791 34251791 single base substitution C T 3_prime_UTR_variant MELA-AU 9 34251804 34251804 single base substitution C T 3_prime_UTR_variant MELA-AU 9 34251805 34251806 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 9 34251925 34251925 single base substitution G A 3_prime_UTR_variant MELA-AU 9 34254885 34254885 single base substitution C T downstream_gene_variant MELA-AU 9 34255302 34255302 single base substitution C T downstream_gene_variant MELA-AU 9 34255908 34255908 single base substitution G A downstream_gene_variant MELA-AU 9 34256468 34256468 single base substitution G A downstream_gene_variant MELA-AU 9 34256930 34256930 single base substitution C T downstream_gene_variant ORCA-IN 9 34183566 34183567 deletion of <=200bp AC - intron_variant ORCA-IN 9 34222234 34222234 single base substitution C T intron_variant OV-AU 9 34179355 34179355 single base substitution C G intron_variant OV-AU 9 34179804 34179804 single base substitution C A intron_variant OV-AU 9 34210618 34210618 single base substitution G A intron_variant OV-AU 9 34215782 34215782 single base substitution T C intron_variant OV-AU 9 34215782 34215782 single base substitution T C upstream_gene_variant OV-AU 9 34218381 34218381 single base substitution A C intron_variant OV-AU 9 34218381 34218381 single base substitution A C upstream_gene_variant OV-AU 9 34227786 34227786 single base substitution A G intron_variant OV-AU 9 34253099 34253099 single base substitution C G downstream_gene_variant OV-AU 9 34254270 34254270 single base substitution C T downstream_gene_variant OV-US 9 34255784 34255784 single base substitution C T downstream_gene_variant PACA-AU 9 34178144 34178144 insertion of <=200bp - AT upstream_gene_variant PACA-AU 9 34179736 34179736 single base substitution C T intron_variant PACA-AU 9 34180709 34180722 deletion of <=200bp TAATGTTTCTTTAG - intron_variant PACA-AU 9 34181404 34181404 single base substitution G A intron_variant PACA-AU 9 34182882 34182882 single base substitution G A intron_variant PACA-AU 9 34199634 34199634 single base substitution T C intron_variant PACA-AU 9 34203372 34203372 single base substitution C T intron_variant PACA-AU 9 34203372 34203372 single base substitution C T splice_region_variant PACA-AU 9 34203376 34203376 single base substitution C T intron_variant PACA-AU 9 34203376 34203376 single base substitution C T splice_region_variant PACA-AU 9 34203439 34203439 single base substitution C T 5_prime_UTR_variant PACA-AU 9 34203439 34203439 single base substitution C T intron_variant PACA-AU 9 34209796 34209796 deletion of <=200bp T - intron_variant PACA-AU 9 34210266 34210266 deletion of <=200bp C - intron_variant PACA-AU 9 34222883 34222883 single base substitution C T intron_variant PACA-AU 9 34228095 34228095 single base substitution C T intron_variant PACA-AU 9 34231221 34231221 insertion of <=200bp - TTTA intron_variant PACA-AU 9 34231496 34231496 single base substitution C T intron_variant PACA-AU 9 34234636 34234636 single base substitution G T intron_variant PACA-AU 9 34235188 34235188 single base substitution G A intron_variant PACA-AU 9 34236926 34236926 single base substitution G A intron_variant PACA-AU 9 34237413 34237413 single base substitution T G intron_variant PACA-AU 9 34237434 34237434 deletion of <=200bp T - intron_variant PACA-AU 9 34237557 34237557 single base substitution A T intron_variant PACA-AU 9 34237968 34237968 single base substitution C T intron_variant PACA-AU 9 34238560 34238560 single base substitution A C intron_variant PACA-AU 9 34247467 34247467 single base substitution G A intron_variant PACA-AU 9 34249132 34249132 single base substitution G A intron_variant PACA-AU 9 34250341 34250361 deletion of <=200bp CTGACTTGGGCTGTTTTCTTA - intron_variant PACA-CA 9 34178736 34178736 single base substitution C A upstream_gene_variant PACA-CA 9 34179007 34179007 single base substitution G T 5_prime_UTR_variant PACA-CA 9 34179007 34179007 single base substitution G T upstream_gene_variant PACA-CA 9 34179537 34179537 deletion of <=200bp G - intron_variant PACA-CA 9 34179656 34179656 single base substitution C T intron_variant PACA-CA 9 34180818 34180818 insertion of <=200bp - T intron_variant PACA-CA 9 34181179 34181179 single base substitution C T intron_variant PACA-CA 9 34181220 34181220 single base substitution C T intron_variant PACA-CA 9 34181236 34181236 single base substitution C T intron_variant PACA-CA 9 34182086 34182086 single base substitution C T intron_variant PACA-CA 9 34182089 34182089 single base substitution G A intron_variant PACA-CA 9 34182249 34182249 single base substitution C T intron_variant PACA-CA 9 34182391 34182391 single base substitution C T intron_variant PACA-CA 9 34183149 34183149 single base substitution C T intron_variant PACA-CA 9 34183186 34183186 single base substitution C T intron_variant PACA-CA 9 34184333 34184333 single base substitution G A intron_variant PACA-CA 9 34184401 34184401 single base substitution G A intron_variant PACA-CA 9 34186461 34186461 single base substitution C T intron_variant PACA-CA 9 34186516 34186516 single base substitution C T intron_variant PACA-CA 9 34186680 34186680 single base substitution C T intron_variant PACA-CA 9 34189069 34189069 single base substitution C T intron_variant PACA-CA 9 34191991 34191991 single base substitution T A intron_variant PACA-CA 9 34195031 34195031 single base substitution T C intron_variant PACA-CA 9 34203308 34203308 single base substitution T G intron_variant PACA-CA 9 34206398 34206398 single base substitution C G intron_variant PACA-CA 9 34214429 34214429 single base substitution T C intron_variant PACA-CA 9 34214647 34214647 single base substitution A T intron_variant PACA-CA 9 34215646 34215646 single base substitution G A intron_variant PACA-CA 9 34215646 34215646 single base substitution G A upstream_gene_variant PACA-CA 9 34216128 34216128 single base substitution G A intron_variant PACA-CA 9 34216128 34216128 single base substitution G A upstream_gene_variant PACA-CA 9 34218037 34218037 single base substitution T A intron_variant PACA-CA 9 34218037 34218037 single base substitution T A upstream_gene_variant PACA-CA 9 34225534 34225534 single base substitution G T intron_variant PACA-CA 9 34226141 34226141 single base substitution G T intron_variant PACA-CA 9 34226143 34226143 single base substitution G T intron_variant PACA-CA 9 34234636 34234636 single base substitution G T intron_variant PACA-CA 9 34235329 34235329 single base substitution G A intron_variant PACA-CA 9 34235760 34235760 single base substitution G A intron_variant PACA-CA 9 34237549 34237549 insertion of <=200bp - T intron_variant PACA-CA 9 34237556 34237556 single base substitution T A intron_variant PACA-CA 9 34238028 34238028 single base substitution C T intron_variant PACA-CA 9 34243734 34243734 single base substitution C T intron_variant PACA-CA 9 34247719 34247719 single base substitution T C intron_variant PACA-CA 9 34251689 34251689 single base substitution C A 3_prime_UTR_variant PACA-CA 9 34254564 34254564 single base substitution G A downstream_gene_variant PAEN-AU 9 34204912 34204912 single base substitution A G intron_variant PAEN-AU 9 34207332 34207332 single base substitution C G intron_variant PAEN-AU 9 34213905 34213905 single base substitution C T intron_variant PAEN-AU 9 34221874 34221874 insertion of <=200bp - T intron_variant PAEN-AU 9 34226768 34226768 single base substitution G A intron_variant PAEN-AU 9 34229312 34229312 single base substitution A G intron_variant PAEN-IT 9 34182098 34182098 single base substitution A G intron_variant PBCA-DE 9 34174856 34174856 single base substitution C G upstream_gene_variant PBCA-DE 9 34179964 34179964 insertion of <=200bp - A intron_variant PBCA-DE 9 34186604 34186604 single base substitution G T intron_variant PBCA-DE 9 34190300 34190300 deletion of <=200bp T - intron_variant PBCA-DE 9 34195738 34195744 deletion of <=200bp GACATGT - intron_variant PBCA-DE 9 34197552 34197552 insertion of <=200bp - T intron_variant PBCA-DE 9 34205945 34205945 single base substitution G A intron_variant PBCA-DE 9 34206105 34206105 single base substitution T C intron_variant PBCA-DE 9 34224270 34224270 single base substitution G A intron_variant PBCA-DE 9 34226104 34226121 deletion of <=200bp TGTGTGTGTGTGTGTGTG - intron_variant PBCA-DE 9 34232491 34232491 single base substitution C G intron_variant PBCA-DE 9 34234637 34234638 deletion of <=200bp AT - intron_variant PBCA-DE 9 34254834 34254834 single base substitution G T downstream_gene_variant PRAD-CA 9 34181055 34181055 single base substitution G A intron_variant PRAD-CA 9 34182626 34182626 single base substitution T C intron_variant PRAD-CA 9 34182691 34182691 single base substitution T C intron_variant PRAD-CA 9 34218876 34218876 single base substitution A G intron_variant PRAD-CA 9 34218876 34218876 single base substitution A G upstream_gene_variant PRAD-CA 9 34226143 34226143 single base substitution G T intron_variant PRAD-CA 9 34235840 34235840 single base substitution C T intron_variant PRAD-UK 9 34183285 34183285 single base substitution T C intron_variant PRAD-UK 9 34187716 34187716 single base substitution T A intron_variant PRAD-UK 9 34208723 34208723 single base substitution C A intron_variant PRAD-UK 9 34212838 34212838 single base substitution C G intron_variant PRAD-UK 9 34220823 34220833 deletion of <=200bp CTGGTTTCTTT - intron_variant PRAD-UK 9 34221928 34221928 single base substitution A C intron_variant PRAD-UK 9 34223389 34223389 single base substitution A G intron_variant PRAD-US 9 34255095 34255095 single base substitution G A downstream_gene_variant PRAD-US 9 34257426 34257426 single base substitution C T downstream_gene_variant RECA-EU 9 34178808 34178808 single base substitution G T upstream_gene_variant RECA-EU 9 34182760 34182760 single base substitution G C intron_variant RECA-EU 9 34187284 34187284 single base substitution C G intron_variant RECA-EU 9 34192855 34192855 single base substitution T C intron_variant RECA-EU 9 34223094 34223094 single base substitution G A intron_variant RECA-EU 9 34232463 34232463 single base substitution G A intron_variant RECA-EU 9 34239044 34239044 single base substitution C A intron_variant SKCA-BR 9 34178974 34178974 single base substitution G A upstream_gene_variant SKCA-BR 9 34181114 34181114 insertion of <=200bp - CTTTCTTTTT intron_variant SKCA-BR 9 34181117 34181117 insertion of <=200bp - TC intron_variant SKCA-BR 9 34181118 34181118 single base substitution T C intron_variant SKCA-BR 9 34182158 34182158 insertion of <=200bp - GTTTATTTA intron_variant SKCA-BR 9 34182158 34182162 deletion of <=200bp GTTTA - intron_variant SKCA-BR 9 34182671 34182671 single base substitution T C intron_variant SKCA-BR 9 34182675 34182675 single base substitution T C intron_variant SKCA-BR 9 34182694 34182694 insertion of <=200bp - TCTC intron_variant SKCA-BR 9 34182835 34182835 single base substitution A G intron_variant SKCA-BR 9 34183638 34183638 single base substitution C T intron_variant SKCA-BR 9 34188110 34188111 deletion of <=200bp TA - intron_variant SKCA-BR 9 34188110 34188112 deletion of <=200bp TAA - intron_variant SKCA-BR 9 34189833 34189833 single base substitution C T intron_variant SKCA-BR 9 34198916 34198916 single base substitution T G intron_variant SKCA-BR 9 34201111 34201111 single base substitution C T intron_variant SKCA-BR 9 34208362 34208362 single base substitution C T intron_variant SKCA-BR 9 34208704 34208704 single base substitution A G intron_variant SKCA-BR 9 34214127 34214128 deletion of <=200bp CA - intron_variant SKCA-BR 9 34216380 34216380 single base substitution A C intron_variant SKCA-BR 9 34216380 34216380 single base substitution A C upstream_gene_variant SKCA-BR 9 34225350 34225350 single base substitution C T intron_variant SKCA-BR 9 34226103 34226107 deletion of <=200bp TTGTG - intron_variant SKCA-BR 9 34226103 34226109 deletion of <=200bp TTGTGTG - intron_variant SKCA-BR 9 34226119 34226119 insertion of <=200bp - GTGTGTGTGTGTGTGTGTGTGTGTT intron_variant SKCA-BR 9 34226125 34226125 insertion of <=200bp - GTGTGTGTGTGTGTGTT intron_variant SKCA-BR 9 34228734 34228734 insertion of <=200bp - AT intron_variant SKCA-BR 9 34230376 34230376 single base substitution T A intron_variant SKCA-BR 9 34237233 34237233 single base substitution C G intron_variant SKCA-BR 9 34237619 34237619 single base substitution C T intron_variant SKCA-BR 9 34241378 34241378 single base substitution C T missense_variant P119S 355C>T SKCA-BR 9 34241378 34241378 single base substitution C T missense_variant P155S 463C>T SKCA-BR 9 34241378 34241378 single base substitution C T missense_variant P183S 547C>T SKCA-BR 9 34242100 34242100 single base substitution T C synonymous_variant G359G 1077T>C SKCA-BR 9 34242100 34242100 single base substitution T C synonymous_variant G395G 1185T>C SKCA-BR 9 34242100 34242100 single base substitution T C synonymous_variant G423G 1269T>C SKCA-BR 9 34254401 34254401 single base substitution G T downstream_gene_variant SKCA-BR 9 34254613 34254613 single base substitution G C downstream_gene_variant SKCM-US 9 34241423 34241423 single base substitution C T missense_variant R134W 400C>T SKCM-US 9 34241423 34241423 single base substitution C T missense_variant R170W 508C>T SKCM-US 9 34241423 34241423 single base substitution C T missense_variant R198W 592C>T SKCM-US 9 34242074 34242074 single base substitution G T stop_gained E351* 1051G>T SKCM-US 9 34242074 34242074 single base substitution G T stop_gained E387* 1159G>T SKCM-US 9 34242074 34242074 single base substitution G T stop_gained E415* 1243G>T SKCM-US 9 34254447 34254447 single base substitution C T downstream_gene_variant SKCM-US 9 34255814 34255814 single base substitution G C downstream_gene_variant SKCM-US 9 34256068 34256068 single base substitution C T downstream_gene_variant SKCM-US 9 34256461 34256461 single base substitution G A downstream_gene_variant STAD-US 9 34234267 34234267 single base substitution A G intron_variant STAD-US 9 34234267 34234267 single base substitution A G missense_variant T30A 88A>G STAD-US 9 34234267 34234267 single base substitution A G missense_variant T94A 280A>G STAD-US 9 34241362 34241362 single base substitution G A missense_variant M113I 339G>A STAD-US 9 34241362 34241362 single base substitution G A missense_variant M149I 447G>A STAD-US 9 34241362 34241362 single base substitution G A missense_variant M177I 531G>A STAD-US 9 34241785 34241785 deletion of <=200bp C - frameshift_variant L254 STAD-US 9 34241785 34241785 deletion of <=200bp C - frameshift_variant L290 STAD-US 9 34241785 34241785 deletion of <=200bp C - frameshift_variant L318 STAD-US 9 34242049 34242049 single base substitution C A synonymous_variant S342S 1026C>A STAD-US 9 34242049 34242049 single base substitution C A synonymous_variant S378S 1134C>A STAD-US 9 34242049 34242049 single base substitution C A synonymous_variant S406S 1218C>A STAD-US 9 34256008 34256008 single base substitution T C downstream_gene_variant STAD-US 9 34256112 34256112 single base substitution C T downstream_gene_variant STAD-US 9 34256530 34256530 single base substitution G A downstream_gene_variant STAD-US 9 34256536 34256537 deletion of <=200bp CA - downstream_gene_variant STAD-US 9 34256919 34256919 deletion of <=200bp T - downstream_gene_variant STAD-US 9 34257342 34257342 single base substitution G A downstream_gene_variant THCA-US 9 34241443 34241443 single base substitution G A synonymous_variant T140T 420G>A THCA-US 9 34241443 34241443 single base substitution G A synonymous_variant T176T 528G>A THCA-US 9 34241443 34241443 single base substitution G A synonymous_variant T204T 612G>A UCEC-US 9 34234255 34234255 single base substitution G T intron_variant UCEC-US 9 34234255 34234255 single base substitution G T missense_variant D26Y 76G>T UCEC-US 9 34234255 34234255 single base substitution G T missense_variant D90Y 268G>T UCEC-US 9 34241378 34241378 single base substitution C A missense_variant P119T 355C>A UCEC-US 9 34241378 34241378 single base substitution C A missense_variant P155T 463C>A UCEC-US 9 34241378 34241378 single base substitution C A missense_variant P183T 547C>A UCEC-US 9 34241758 34241758 single base substitution G T missense_variant K245N 735G>T UCEC-US 9 34241758 34241758 single base substitution G T missense_variant K281N 843G>T UCEC-US 9 34241758 34241758 single base substitution G T missense_variant K309N 927G>T UCEC-US 9 34241886 34241886 single base substitution A G missense_variant H288R 863A>G UCEC-US 9 34241886 34241886 single base substitution A G missense_variant H324R 971A>G UCEC-US 9 34241886 34241886 single base substitution A G missense_variant H352R 1055A>G UCEC-US 9 34241903 34241903 single base substitution C T missense_variant R294C 880C>T UCEC-US 9 34241903 34241903 single base substitution C T missense_variant R330C 988C>T UCEC-US 9 34241903 34241903 single base substitution C T missense_variant R358C 1072C>T UCEC-US 9 34249921 34249921 single base substitution C A intron_variant UCEC-US 9 34249921 34249921 single base substitution C A missense_variant L410I 1228C>A UCEC-US 9 34249921 34249921 single base substitution C A missense_variant L446I 1336C>A UCEC-US 9 34249921 34249921 single base substitution C A missense_variant L474I 1420C>A UCEC-US 9 34250704 34250704 single base substitution G A missense_variant D378N 1132G>A UCEC-US 9 34250704 34250704 single base substitution G A missense_variant D439N 1315G>A UCEC-US 9 34250704 34250704 single base substitution G A missense_variant D475N 1423G>A UCEC-US 9 34250704 34250704 single base substitution G A missense_variant D503N 1507G>A UCEC-US 9 34255112 34255112 single base substitution G A downstream_gene_variant UCEC-US 9 34256198 34256198 single base substitution C T downstream_gene_variant UCEC-US 9 34256486 34256486 single base substitution G A downstream_gene_variant UCEC-US 9 34257040 34257040 single base substitution G T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EM-A4FO-01 COSM2773010 c.420G>A p.T140T Substitution - coding silent 9:34241445-34241445 + 61 COSM5738575 c.1088delC p.P364fs*50 Deletion - Frameshift 9:34249783-34249783 + Gp2D COSM2773006 c.54T>C p.D18D Substitution - coding silent 9:34234235-34234235 + FM403T COSM673735 c.1123A>T p.M375L Substitution - Missense 9:34249818-34249818 + NPC15F COSM4997062 c.59T>C p.V20A Substitution - Missense 9:34234240-34234240 + CN-AML-NR-08-Dx COSM3685590 c.1071T>A p.N357K Substitution - Missense 9:34242096-34242096 + TCGA-AO-A03M-01 COSM3848387 c.526G>A p.E176K Substitution - Missense 9:34241551-34241551 + TCGA-EE-A3JI-06 COSM3656996 c.400C>T p.R134W Substitution - Missense 9:34241425-34241425 + DLD1 COSM2773056 c.1351C>A p.Q451K Substitution - Missense 9:34250742-34250742 + T3301 COSM4738609 c.489A>T p.E163D Substitution - Missense 9:34241514-34241514 + SNUH_G16_S1 COSM3685590 c.1071T>A p.N357K Substitution - Missense 9:34242096-34242096 + YURAY COSM5411014 c.431T>C p.V144A Substitution - Missense 9:34241456-34241456 + TCGA-BR-4184-01 COSM3906983 c.339G>A p.M113I Substitution - Missense 9:34241364-34241364 + TCGA-C8-A12Q-01 COSM455862 c.341C>T p.P114L Substitution - Missense 9:34241366-34241366 + TCGA-FI-A2EW-01 COSM1108415 c.863A>G p.H288R Substitution - Missense 9:34241888-34241888 + J30_T COSM3952669 c.151G>A p.E51K Substitution - Missense 9:34234332-34234332 + Gp5D COSM2773006 c.54T>C p.D18D Substitution - coding silent 9:34234235-34234235 + SJBALL263_D COSM4994288 c.297T>C p.D99D Substitution - coding silent 9:34241322-34241322 + HN_62505 COSM130032 c.130G>C p.D44H Substitution - Missense 9:34234311-34234311 + TCGA-ER-A19P-06 COSM3656998 c.1051G>T p.E351* Substitution - Nonsense 9:34242076-34242076 + EWS502 COSM4588786 c.465T>C p.N155N Substitution - coding silent 9:34241490-34241490 + TCGA-D1-A103-01 COSM1108418 c.1315G>A p.D439N Substitution - Missense 9:34250706-34250706 + T2269 COSM4738613 c.1314C>T p.F438F Substitution - coding silent 9:34250705-34250705 + TCGA-EU-5907-01 COSM487396 c.578C>T p.A193V Substitution - Missense 9:34241603-34241603 + TCGA-B0-5115-01 COSM487397 c.750C>G p.S250S Substitution - coding silent 9:34241775-34241775 + LUAD-E01317 COSM403877 c.1407G>T p.E469D Substitution - Missense 9:34251430-34251430 + TCGA-IR-A3LA-01 COSM4845837 c.1093C>T p.P365S Substitution - Missense 9:34249788-34249788 + CHC258T COSM3670026 c.1213T>C p.S405P Substitution - Missense 9:34249908-34249908 + 587376 COSM1231525 c.180G>T p.K60N Substitution - Missense 9:34241205-34241205 + T1240 COSM4738611 c.849G>A p.L283L Substitution - coding silent 9:34241874-34241874 + TP_2010 COSM5568116 c.1024T>G p.S342A Substitution - Missense 9:34242049-34242049 + HCT15 COSM2773056 c.1351C>A p.Q451K Substitution - Missense 9:34250742-34250742 + TCGA-BR-6566-01 COSM3906981 c.88A>G p.T30A Substitution - Missense 9:34234269-34234269 + Pat_30_B COSM5876150 c.1487T>A p.M496K Substitution - Missense 9:34251510-34251510 + TCGA-D1-A17R-01 COSM1108416 c.880C>T p.R294C Substitution - Missense 9:34241905-34241905 + 394 COSM4428604 c.184A>G p.T62A Substitution - Missense 9:34241209-34241209 + TCGA-AC-A23H-01 COSM3848383 c.147C>T p.V49V Substitution - coding silent 9:34234328-34234328 + TCGA-BP-4962-01 COSM1497070 c.646G>A p.A216T Substitution - Missense 9:34241671-34241671 + TCGA-AP-A0LM-01 COSM1108412 c.76G>T p.D26Y Substitution - Missense 9:34234257-34234257 + B96-Tumor COSM4007174 c.850G>A p.A284T Substitution - Missense 9:34241875-34241875 + TCGA-AX-A0J0-01 COSM1108418 c.1315G>A p.D439N Substitution - Missense 9:34250706-34250706 + sysucc-311T COSM5467690 c.1267-7T>G p.? Unknown 9:34250651-34250651 + Pat_30_A COSM5876150 c.1487T>A p.M496K Substitution - Missense 9:34251510-34251510 + TCGA-A5-A0GB-01 COSM1108413 c.355C>A p.P119T Substitution - Missense 9:34241380-34241380 + DLD1 COSM4626436 c.862C>A p.H288N Substitution - Missense 9:34241887-34241887 + TCGA-B5-A11E-01 COSM1108414 c.735G>T p.K245N Substitution - Missense 9:34241760-34241760 + TCGA-66-2785-01 COSM753590 c.580C>G p.Q194E Substitution - Missense 9:34241605-34241605 + 472 COSM4438038 c.1492C>A p.R498R Substitution - coding silent 9:34251515-34251515 + TCGA-AD-6889-01 COSM1462113 c.229C>T p.R77W Substitution - Missense 9:34241254-34241254 + LUAD-D02185 COSM338892 c.306G>A p.M102I Substitution - Missense 9:34241331-34241331 + TCGA-HT-7686-01 COSM3930029 c.1273G>T p.D425Y Substitution - Missense 9:34250664-34250664 + TCGA-46-3768-01 COSM753589 c.624G>C p.V208V Substitution - coding silent 9:34241649-34241649 + 61 COSM5738577 c.1370T>C p.M457T Substitution - Missense 9:34251393-34251393 + CN-AML-08-T COSM3685590 c.1071T>A p.N357K Substitution - Missense 9:34242096-34242096 + ML4 COSM1108415 c.863A>G p.H288R Substitution - Missense 9:34241888-34241888 + TCGA-EW-A2FV-01 COSM3848385 c.514A>C p.K172Q Substitution - Missense 9:34241539-34241539 + CHC258T COSM3670026 c.1213T>C p.S405P Substitution - Missense 9:34249908-34249908 + D1 COSM2773050 c.1194G>A p.T398T Substitution - coding silent 9:34249889-34249889 + P146 COSM1737202 c.455C>T p.A152V Substitution - Missense 9:34241480-34241480 + TCGA-AZ-4315-01 COSM1462115 c.383G>A p.S128N Substitution - Missense 9:34241408-34241408 + TCGA-AC-A23H-01 COSM3848389 c.1279C>T p.L427F Substitution - Missense 9:34250670-34250670 + 721LT COSM4381527 c.1096A>G p.N366D Substitution - Missense 9:34249791-34249791 + TCGA-BR-8078-01 COSM3906985 c.1026C>A p.S342S Substitution - coding silent 9:34242051-34242051 + TCGA-AP-A051-01 COSM1108417 c.1228C>A p.L410I Substitution - Missense 9:34249923-34249923 + MO_1040 COSM5560852 c.695A>G p.N232S Substitution - Missense 9:34241720-34241720 + YUTRAIN COSM5411012 c.208A>G p.K70E Substitution - Missense 9:34241233-34241233 + CSCC-44-T COSM4487527 c.31C>T p.H11Y Substitution - Missense 9:34220945-34220945 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.268963 9p13.3 609787 1523415|dbSNP|BC020950|C/T|non-coding||2310|Validated Hs.664642;Hs.664643;Hs.664644;Hs.664645;Hs.664646;Hs.664647;Hs.664648;Hs.664649;Hs.664650 7q33

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A - Frameshift p.V116Yfs*39 c.345delA 9 34234331 GBM A G IntronicSNV . c.226+12579A>G 9 34191817 HC A G Missense p.H352R c.1055A>G 9 34241886 UCEC C A Missense p.P183T c.547C>A 9 34241378 UCEC C G Missense p.S408C c.1223C>G 9 34242054 LUAD C G Nonsense p.S432* c.1295C>G 9 34249796 LUAD C G Synonymous p.S314S c.942C>G 9 34241773 RCCC C T Missense p.P178L c.533C>T 9 34241364 BRCA C T Missense p.P454L c.1361C>T 9 34249862 HNSC C T Missense p.R198W c.592C>T 9 34241423 CM C T Missense p.R358C c.1072C>T 9 34241903 UCEC G A Missense p.A476T c.1426G>A 9 34249927 LUAD G A Missense p.R457Q c.1370G>A 9 34249871 LUAD G A Synonymous p.K367K c.1101G>A 9 34241932 BRCA G C Missense p.D108H c.322G>C 9 34234309 HNSC G C Synonymous p.V272V c.816G>C 9 34241647 LUSC G T Missense p.D489Y c.1465G>T 9 34250662 LGG G T Nonsense p.E415* c.1243G>T 9 34242074 CM T C Missense p.I299T c.896T>C 9 34241727 CM T C Missense p.L312P c.935T>C 9 34241766 HNSC T C Synonymous p.P322P c.966T>C 9 34241797 STAD - T IntronicInsertion . c.227-10061dupT 9 34224145 CM