Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 2 74649393 74649393 + Missense_Mutation SNP A A G TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr2:74649393A>G c.113A>G c.(112-114)cAt>cGt p.H38R BLCA 2 74649500 74649500 + Nonsense_Mutation SNP C C T TCGA-UY-A78K-01A-11D-A339-08 TCGA-UY-A78K-10A-01D-A339-08 g.chr2:74649500C>T c.220C>T c.(220-222)Cag>Tag p.Q74* BLCA 2 74650038 74650038 + Silent SNP C C T TCGA-XF-A9T5-01A-11D-A42E-08 TCGA-XF-A9T5-10A-01D-A42H-08 g.chr2:74650038C>T c.264C>T c.(262-264)ctC>ctT p.L88L BLCA 2 74650498 74650498 + Missense_Mutation SNP G G C TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr2:74650498G>C c.338G>C c.(337-339)gGa>gCa p.G113A BRCA 2 74651009 74651009 + Missense_Mutation SNP T T C TCGA-C8-A131-01A-11D-A10Y-09 TCGA-C8-A131-10A-01D-A110-09 g.chr2:74651009T>C c.434T>C c.(433-435)tTt>tCt p.F145S BRCA 2 74652076 74652076 + Silent SNP A A G TCGA-BH-A1FG-01A-11D-A13L-09 TCGA-BH-A1FG-11B-12D-A13O-09 g.chr2:74652076A>G c.609A>G c.(607-609)acA>acG p.T203T BRCA 2 74652808 74652808 + Missense_Mutation SNP C C T TCGA-AN-A0AK-01A-21W-A019-09 TCGA-AN-A0AK-10A-01W-A021-09 g.chr2:74652808C>T c.985C>T c.(985-987)Cgg>Tgg p.R329W CESC 2 74652559 74652559 + Nonsense_Mutation SNP G G T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr2:74652559G>T c.814G>T c.(814-816)Gag>Tag p.E272* COAD 2 74650058 74650058 + Splice_Site SNP A A C TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr2:74650058A>C c.284A>C c.(283-285)cAg>cCg p.Q95P COAD 2 74652025 74652025 + Silent SNP G G A TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr2:74652025G>A c.558G>A c.(556-558)acG>acA p.T186T COADREAD 2 74650058 74650058 + Splice_Site SNP A A C TCGA-A6-2672-01A-01W-0833-10 TCGA-A6-2672-10A-01W-0833-10 g.chr2:74650058A>C c.284A>C c.(283-285)cAg>cCg p.Q95P COADREAD 2 74652025 74652025 + Silent SNP G G A TCGA-G4-6315-01A-11D-1719-10 TCGA-G4-6315-10A-01D-1720-10 g.chr2:74652025G>A c.558G>A c.(556-558)acG>acA p.T186T ESCA 2 74649396 74649396 + Missense_Mutation SNP G G A TCGA-L5-A8NI-01A-11D-A37C-09 TCGA-L5-A8NI-11A-11D-A37F-09 g.chr2:74649396G>A c.116G>A c.(115-117)gGa>gAa p.G39E ESCA 2 74649471 74649471 + Missense_Mutation SNP G G T TCGA-L5-A8NH-01A-11D-A37C-09 TCGA-L5-A8NH-11A-11D-A37F-09 g.chr2:74649471G>T c.191G>T c.(190-192)gGt>gTt p.G64V GBMLGG 2 74652340 74652340 + Silent SNP G G A TCGA-HT-A614-01A-11D-A29Q-08 TCGA-HT-A614-10A-01D-A29Q-08 g.chr2:74652340G>A c.774G>A c.(772-774)ctG>ctA p.L258L HNSC 2 74649491 74649491 + Missense_Mutation SNP C C G TCGA-BA-A6DA-01A-31D-A31L-08 TCGA-BA-A6DA-10A-01D-A31J-08 g.chr2:74649491C>G c.211C>G c.(211-213)Ctt>Gtt p.L71V HNSC 2 74650994 74650994 + Missense_Mutation SNP G G C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr2:74650994G>C c.419G>C c.(418-420)gGc>gCc p.G140A HNSC 2 74652067 74652067 + Silent SNP A A T TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 g.chr2:74652067A>T c.600A>T c.(598-600)ccA>ccT p.P200P HNSC 2 74652827 74652827 + Nonstop_Mutation SNP G G C TCGA-CV-6956-01A-21D-2012-08 TCGA-CV-6956-10A-01D-2013-08 g.chr2:74652827G>C c.1004G>C c.(1003-1005)tGa>tCa p.*335S LGG 2 74652340 74652340 + Silent SNP G G A TCGA-HT-A614-01A-11D-A29Q-08 TCGA-HT-A614-10A-01D-A29Q-08 g.chr2:74652340G>A c.774G>A c.(772-774)ctG>ctA p.L258L LIHC 2 74652051 74652051 + Missense_Mutation SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr2:74652051T>C c.584T>C c.(583-585)gTc>gCc p.V195A LUAD 2 74650614 74650614 + Missense_Mutation SNP T T G TCGA-91-6828-01A-11D-1855-08 TCGA-91-6828-10A-01D-1855-08 g.chr2:74650614T>G c.362T>G c.(361-363)gTg>gGg p.V121G LUAD 2 74652347 74652347 + Missense_Mutation SNP G G A TCGA-78-8662-01A-11D-2393-08 TCGA-78-8662-10A-01D-2393-08 g.chr2:74652347G>A c.781G>A c.(781-783)Gct>Act p.A261T LUAD 2 74652753 74652753 + Silent SNP T T C TCGA-64-5775-01A-01D-1625-08 TCGA-64-5775-10A-01D-1625-08 g.chr2:74652753T>C c.930T>C c.(928-930)ttT>ttC p.F310F LUSC 2 74652601 74652601 + Missense_Mutation SNP G G A TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 g.chr2:74652601G>A c.856G>A c.(856-858)Gag>Aag p.E286K LUSC 2 74652764 74652764 + Nonsense_Mutation SNP C C A TCGA-18-3412-01A-01D-0983-08 TCGA-18-3412-11A-01D-0983-08 g.chr2:74652764C>A c.941C>A c.(940-942)tCa>tAa p.S314* SKCM 2 74650042 74650042 + Missense_Mutation SNP T T C TCGA-EE-A29G-06A-12D-A196-08 TCGA-EE-A29G-10A-01D-A198-08 g.chr2:74650042T>C c.268T>C c.(268-270)Tca>Cca p.S90P SKCM 2 74650500 74650500 + Missense_Mutation SNP G G A TCGA-EE-A2GN-06A-11D-A196-08 TCGA-EE-A2GN-10A-01D-A198-08 g.chr2:74650500G>A c.340G>A c.(340-342)Gat>Aat p.D114N SKCM 2 74652712 74652712 + Missense_Mutation SNP G G A TCGA-EE-A3J5-06A-11D-A20D-08 TCGA-EE-A3J5-10A-01D-A20D-08 g.chr2:74652712G>A c.889G>A c.(889-891)Ggt>Agt p.G297S

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 2 74652853 74652853 single base substitution G A 3_prime_UTR_variant BLCA-CN 2 74652853 74652853 single base substitution G A downstream_gene_variant BLCA-CN 2 74652853 74652853 single base substitution G A exon_variant BLCA-CN 2 74655814 74655814 single base substitution C T downstream_gene_variant BLCA-US 2 74650498 74650498 single base substitution G C downstream_gene_variant BLCA-US 2 74650498 74650498 single base substitution G C exon_variant BLCA-US 2 74650498 74650498 single base substitution G C missense_variant G113A 338G>C BLCA-US 2 74650498 74650498 single base substitution G C missense_variant G61A 182G>C BLCA-US 2 74650498 74650498 single base substitution G C upstream_gene_variant BRCA-EU 2 74648462 74648462 single base substitution G C upstream_gene_variant BRCA-EU 2 74649484 74649484 single base substitution T A exon_variant BRCA-EU 2 74649484 74649484 single base substitution T A intron_variant BRCA-EU 2 74649484 74649484 single base substitution T A missense_variant S68R 204T>A BRCA-EU 2 74649484 74649484 single base substitution T A upstream_gene_variant BRCA-EU 2 74649733 74649733 single base substitution A G exon_variant BRCA-EU 2 74649733 74649733 single base substitution A G intron_variant BRCA-EU 2 74649733 74649733 single base substitution A G upstream_gene_variant BRCA-EU 2 74649763 74649763 deletion of <=200bp A - downstream_gene_variant BRCA-EU 2 74649763 74649763 deletion of <=200bp A - exon_variant BRCA-EU 2 74649763 74649763 deletion of <=200bp A - intron_variant BRCA-EU 2 74649763 74649763 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 74657015 74657015 single base substitution G A downstream_gene_variant BRCA-KR 2 74648911 74648911 single base substitution C G 5_prime_UTR_variant BRCA-KR 2 74648911 74648911 single base substitution C G exon_variant BRCA-KR 2 74648911 74648911 single base substitution C G missense_variant P12A 34C>G BRCA-KR 2 74648911 74648911 single base substitution C G upstream_gene_variant BRCA-KR 2 74649921 74649921 single base substitution C A downstream_gene_variant BRCA-KR 2 74649921 74649921 single base substitution C A exon_variant BRCA-KR 2 74649921 74649921 single base substitution C A intron_variant BRCA-KR 2 74649921 74649921 single base substitution C A upstream_gene_variant BRCA-US 2 74651009 74651009 single base substitution T C downstream_gene_variant BRCA-US 2 74651009 74651009 single base substitution T C exon_variant BRCA-US 2 74651009 74651009 single base substitution T C missense_variant F127S 380T>C BRCA-US 2 74651009 74651009 single base substitution T C missense_variant F145S 434T>C BRCA-US 2 74651009 74651009 single base substitution T C missense_variant F93S 278T>C BRCA-US 2 74651009 74651009 single base substitution T C upstream_gene_variant BRCA-US 2 74652076 74652076 single base substitution A G downstream_gene_variant BRCA-US 2 74652076 74652076 single base substitution A G exon_variant BRCA-US 2 74652076 74652076 single base substitution A G intron_variant BRCA-US 2 74652076 74652076 single base substitution A G synonymous_variant T151T 453A>G BRCA-US 2 74652076 74652076 single base substitution A G synonymous_variant T203T 609A>G BRCA-US 2 74652808 74652808 single base substitution C T 3_prime_UTR_variant BRCA-US 2 74652808 74652808 single base substitution C T downstream_gene_variant BRCA-US 2 74652808 74652808 single base substitution C T exon_variant BRCA-US 2 74652808 74652808 single base substitution C T missense_variant R329W 985C>T BRCA-US 2 74653445 74653445 single base substitution T G downstream_gene_variant BRCA-US 2 74655445 74655445 single base substitution C T downstream_gene_variant BTCA-JP 2 74649280 74649280 single base substitution G T exon_variant BTCA-JP 2 74649280 74649280 single base substitution G T intron_variant BTCA-JP 2 74649280 74649280 single base substitution G T splice_region_variant BTCA-JP 2 74649280 74649280 single base substitution G T upstream_gene_variant BTCA-JP 2 74650706 74650706 single base substitution C T downstream_gene_variant BTCA-JP 2 74650706 74650706 single base substitution C T exon_variant BTCA-JP 2 74650706 74650706 single base substitution C T intron_variant BTCA-JP 2 74650706 74650706 single base substitution C T upstream_gene_variant BTCA-JP 2 74652748 74652748 single base substitution C T downstream_gene_variant BTCA-JP 2 74652748 74652748 single base substitution C T exon_variant BTCA-JP 2 74652748 74652748 single base substitution C T intron_variant BTCA-JP 2 74652748 74652748 single base substitution C T stop_gained R309* 925C>T BTCA-JP 2 74652933 74652934 deletion of <=200bp TA - downstream_gene_variant BTCA-JP 2 74653279 74653279 single base substitution C G downstream_gene_variant BTCA-JP 2 74656984 74656984 single base substitution A T downstream_gene_variant CESC-US 2 74652559 74652559 single base substitution G T downstream_gene_variant CESC-US 2 74652559 74652559 single base substitution G T exon_variant CESC-US 2 74652559 74652559 single base substitution G T stop_gained E220* 658G>T CESC-US 2 74652559 74652559 single base substitution G T stop_gained E272* 814G>T COAD-US 2 74644518 74644518 single base substitution A G upstream_gene_variant COAD-US 2 74652025 74652025 single base substitution G A downstream_gene_variant COAD-US 2 74652025 74652025 single base substitution G A exon_variant COAD-US 2 74652025 74652025 single base substitution G A intron_variant COAD-US 2 74652025 74652025 single base substitution G A synonymous_variant T134T 402G>A COAD-US 2 74652025 74652025 single base substitution G A synonymous_variant T186T 558G>A COAD-US 2 74652335 74652335 single base substitution G A downstream_gene_variant COAD-US 2 74652335 74652335 single base substitution G A exon_variant COAD-US 2 74652335 74652335 single base substitution G A missense_variant A205T 613G>A COAD-US 2 74652335 74652335 single base substitution G A missense_variant A257T 769G>A COAD-US 2 74653435 74653435 single base substitution A T downstream_gene_variant COAD-US 2 74653449 74653449 insertion of <=200bp - G downstream_gene_variant COAD-US 2 74653485 74653485 deletion of <=200bp G - downstream_gene_variant COAD-US 2 74653678 74653678 single base substitution C T downstream_gene_variant COAD-US 2 74657486 74657486 single base substitution G A downstream_gene_variant COCA-CN 2 74649921 74649921 single base substitution C A downstream_gene_variant COCA-CN 2 74649921 74649921 single base substitution C A exon_variant COCA-CN 2 74649921 74649921 single base substitution C A intron_variant COCA-CN 2 74649921 74649921 single base substitution C A upstream_gene_variant COCA-CN 2 74650629 74650629 single base substitution T G downstream_gene_variant COCA-CN 2 74650629 74650629 single base substitution T G exon_variant COCA-CN 2 74650629 74650629 single base substitution T G intron_variant COCA-CN 2 74650629 74650629 single base substitution T G missense_variant I126S 377T>G COCA-CN 2 74650629 74650629 single base substitution T G missense_variant I74S 221T>G COCA-CN 2 74650629 74650629 single base substitution T G upstream_gene_variant COCA-CN 2 74652207 74652207 single base substitution C T downstream_gene_variant COCA-CN 2 74652207 74652207 single base substitution C T exon_variant COCA-CN 2 74652207 74652207 single base substitution C T intron_variant COCA-CN 2 74652207 74652207 single base substitution C T missense_variant P162L 485C>T COCA-CN 2 74652207 74652207 single base substitution C T missense_variant P214L 641C>T COCA-CN 2 74652208 74652208 single base substitution G A downstream_gene_variant COCA-CN 2 74652208 74652208 single base substitution G A exon_variant COCA-CN 2 74652208 74652208 single base substitution G A intron_variant COCA-CN 2 74652208 74652208 single base substitution G A synonymous_variant P162P 486G>A COCA-CN 2 74652208 74652208 single base substitution G A synonymous_variant P214P 642G>A COCA-CN 2 74652689 74652689 single base substitution T C downstream_gene_variant COCA-CN 2 74652689 74652689 single base substitution T C intron_variant COCA-CN 2 74655559 74655559 single base substitution C T downstream_gene_variant ESAD-UK 2 74649763 74649763 insertion of <=200bp - A downstream_gene_variant ESAD-UK 2 74649763 74649763 insertion of <=200bp - A exon_variant ESAD-UK 2 74649763 74649763 insertion of <=200bp - A intron_variant ESAD-UK 2 74649763 74649763 insertion of <=200bp - A upstream_gene_variant ESAD-UK 2 74656392 74656392 single base substitution C T downstream_gene_variant ESCA-CN 2 74644277 74644277 single base substitution T C upstream_gene_variant ESCA-CN 2 74654347 74654347 single base substitution G A downstream_gene_variant KIRC-US 2 74657145 74657145 single base substitution A T downstream_gene_variant KIRP-US 2 74651108 74651108 single base substitution A G downstream_gene_variant KIRP-US 2 74651108 74651108 single base substitution A G missense_variant Q126R 377A>G KIRP-US 2 74651108 74651108 single base substitution A G missense_variant Q160R 479A>G KIRP-US 2 74651108 74651108 single base substitution A G missense_variant Q178R 533A>G KIRP-US 2 74651108 74651108 single base substitution A G splice_region_variant KIRP-US 2 74651108 74651108 single base substitution A G upstream_gene_variant KIRP-US 2 74656034 74656034 single base substitution A G downstream_gene_variant KIRP-US 2 74657398 74657398 single base substitution A G downstream_gene_variant LAML-KR 2 74646025 74646025 single base substitution T A upstream_gene_variant LAML-KR 2 74649921 74649921 single base substitution C A downstream_gene_variant LAML-KR 2 74649921 74649921 single base substitution C A exon_variant LAML-KR 2 74649921 74649921 single base substitution C A intron_variant LAML-KR 2 74649921 74649921 single base substitution C A upstream_gene_variant LGG-US 2 74652340 74652340 single base substitution G A downstream_gene_variant LGG-US 2 74652340 74652340 single base substitution G A exon_variant LGG-US 2 74652340 74652340 single base substitution G A synonymous_variant L206L 618G>A LGG-US 2 74652340 74652340 single base substitution G A synonymous_variant L258L 774G>A LICA-FR 2 74656983 74656983 single base substitution G A downstream_gene_variant LINC-JP 2 74647899 74647899 single base substitution C T upstream_gene_variant LINC-JP 2 74652154 74652154 single base substitution G A downstream_gene_variant LINC-JP 2 74652154 74652154 single base substitution G A exon_variant LINC-JP 2 74652154 74652154 single base substitution G A intron_variant LINC-JP 2 74652240 74652240 single base substitution T C downstream_gene_variant LINC-JP 2 74652240 74652240 single base substitution T C exon_variant LINC-JP 2 74652240 74652240 single base substitution T C missense_variant I173T 518T>C LINC-JP 2 74652240 74652240 single base substitution T C missense_variant I225T 674T>C LINC-JP 2 74654666 74654666 single base substitution G A downstream_gene_variant LINC-JP 2 74654826 74654826 single base substitution G A downstream_gene_variant LIRI-JP 2 74644741 74644741 single base substitution G A upstream_gene_variant LIRI-JP 2 74646885 74646885 single base substitution T C upstream_gene_variant LIRI-JP 2 74647821 74647821 single base substitution A T upstream_gene_variant LIRI-JP 2 74648247 74648247 single base substitution A C upstream_gene_variant LIRI-JP 2 74650908 74650908 insertion of <=200bp - T downstream_gene_variant LIRI-JP 2 74650908 74650908 insertion of <=200bp - T exon_variant LIRI-JP 2 74650908 74650908 insertion of <=200bp - T intron_variant LIRI-JP 2 74650908 74650908 insertion of <=200bp - T upstream_gene_variant LIRI-JP 2 74651136 74651136 single base substitution G T downstream_gene_variant LIRI-JP 2 74651136 74651136 single base substitution G T intron_variant LIRI-JP 2 74651136 74651136 single base substitution G T upstream_gene_variant LIRI-JP 2 74651297 74651300 deletion of <=200bp TTAA - downstream_gene_variant LIRI-JP 2 74651297 74651300 deletion of <=200bp TTAA - intron_variant LIRI-JP 2 74651297 74651300 deletion of <=200bp TTAA - upstream_gene_variant LIRI-JP 2 74651303 74651303 insertion of <=200bp - AAG downstream_gene_variant LIRI-JP 2 74651303 74651303 insertion of <=200bp - AAG intron_variant LIRI-JP 2 74651303 74651303 insertion of <=200bp - AAG upstream_gene_variant LIRI-JP 2 74651459 74651459 single base substitution T C downstream_gene_variant LIRI-JP 2 74651459 74651459 single base substitution T C intron_variant LIRI-JP 2 74651459 74651459 single base substitution T C upstream_gene_variant LIRI-JP 2 74652562 74652562 single base substitution G A downstream_gene_variant LIRI-JP 2 74652562 74652562 single base substitution G A exon_variant LIRI-JP 2 74652562 74652562 single base substitution G A missense_variant D221N 661G>A LIRI-JP 2 74652562 74652562 single base substitution G A missense_variant D273N 817G>A LIRI-JP 2 74653025 74653025 single base substitution T G downstream_gene_variant LIRI-JP 2 74654152 74654152 single base substitution C T downstream_gene_variant LIRI-JP 2 74657694 74657694 single base substitution G T downstream_gene_variant LUSC-KR 2 74644198 74644198 single base substitution A G upstream_gene_variant LUSC-KR 2 74644277 74644277 single base substitution T C upstream_gene_variant LUSC-KR 2 74646861 74646861 single base substitution G C upstream_gene_variant LUSC-KR 2 74649715 74649715 single base substitution G T exon_variant LUSC-KR 2 74649715 74649715 single base substitution G T intron_variant LUSC-KR 2 74649715 74649715 single base substitution G T upstream_gene_variant LUSC-KR 2 74650000 74650000 single base substitution C A downstream_gene_variant LUSC-KR 2 74650000 74650000 single base substitution C A exon_variant LUSC-KR 2 74650000 74650000 single base substitution C A missense_variant H24N 70C>A LUSC-KR 2 74650000 74650000 single base substitution C A missense_variant H76N 226C>A LUSC-KR 2 74650000 74650000 single base substitution C A upstream_gene_variant LUSC-KR 2 74656451 74656451 single base substitution C G downstream_gene_variant LUSC-US 2 74652601 74652601 single base substitution G A downstream_gene_variant LUSC-US 2 74652601 74652601 single base substitution G A exon_variant LUSC-US 2 74652601 74652601 single base substitution G A missense_variant E234K 700G>A LUSC-US 2 74652601 74652601 single base substitution G A missense_variant E286K 856G>A LUSC-US 2 74652764 74652764 single base substitution C A downstream_gene_variant LUSC-US 2 74652764 74652764 single base substitution C A exon_variant LUSC-US 2 74652764 74652764 single base substitution C A intron_variant LUSC-US 2 74652764 74652764 single base substitution C A stop_gained S314* 941C>A LUSC-US 2 74653636 74653636 single base substitution G A downstream_gene_variant MALY-DE 2 74643870 74643870 single base substitution A G upstream_gene_variant MALY-DE 2 74656074 74656074 single base substitution G A downstream_gene_variant MALY-DE 2 74656388 74656388 single base substitution T C downstream_gene_variant MELA-AU 2 74644729 74644729 single base substitution G A upstream_gene_variant MELA-AU 2 74645310 74645311 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 74645470 74645470 single base substitution G A upstream_gene_variant MELA-AU 2 74645750 74645750 single base substitution G C upstream_gene_variant MELA-AU 2 74646441 74646441 single base substitution C T upstream_gene_variant MELA-AU 2 74646502 74646502 single base substitution A G upstream_gene_variant MELA-AU 2 74646771 74646771 single base substitution C T upstream_gene_variant MELA-AU 2 74646847 74646847 single base substitution A G upstream_gene_variant MELA-AU 2 74648001 74648001 single base substitution G A upstream_gene_variant MELA-AU 2 74648831 74648831 single base substitution C T exon_variant MELA-AU 2 74648831 74648831 single base substitution C T upstream_gene_variant MELA-AU 2 74650000 74650000 single base substitution C T downstream_gene_variant MELA-AU 2 74650000 74650000 single base substitution C T exon_variant MELA-AU 2 74650000 74650000 single base substitution C T missense_variant H24Y 70C>T MELA-AU 2 74650000 74650000 single base substitution C T missense_variant H76Y 226C>T MELA-AU 2 74650000 74650000 single base substitution C T upstream_gene_variant MELA-AU 2 74651385 74651385 single base substitution C T downstream_gene_variant MELA-AU 2 74651385 74651385 single base substitution C T intron_variant MELA-AU 2 74651385 74651385 single base substitution C T upstream_gene_variant MELA-AU 2 74651531 74651531 single base substitution C T downstream_gene_variant MELA-AU 2 74651531 74651531 single base substitution C T intron_variant MELA-AU 2 74651531 74651531 single base substitution C T upstream_gene_variant MELA-AU 2 74652096 74652096 single base substitution G A downstream_gene_variant MELA-AU 2 74652096 74652096 single base substitution G A exon_variant MELA-AU 2 74652096 74652096 single base substitution G A intron_variant MELA-AU 2 74652096 74652096 single base substitution G A missense_variant G158E 473G>A MELA-AU 2 74652096 74652096 single base substitution G A missense_variant G210E 629G>A MELA-AU 2 74652645 74652645 single base substitution G A downstream_gene_variant MELA-AU 2 74652645 74652645 single base substitution G A intron_variant MELA-AU 2 74653469 74653469 single base substitution C T downstream_gene_variant MELA-AU 2 74653926 74653926 single base substitution G A downstream_gene_variant MELA-AU 2 74654305 74654305 single base substitution G T downstream_gene_variant MELA-AU 2 74655089 74655089 single base substitution G A downstream_gene_variant MELA-AU 2 74655372 74655372 single base substitution C T downstream_gene_variant MELA-AU 2 74656978 74656978 single base substitution G C downstream_gene_variant MELA-AU 2 74656990 74656990 single base substitution C T downstream_gene_variant MELA-AU 2 74657224 74657224 single base substitution G A downstream_gene_variant MELA-AU 2 74657235 74657235 single base substitution G A downstream_gene_variant MELA-AU 2 74657313 74657313 single base substitution G A downstream_gene_variant MELA-AU 2 74657473 74657473 single base substitution G A downstream_gene_variant MELA-AU 2 74657628 74657628 single base substitution T A downstream_gene_variant ORCA-IN 2 74650583 74650583 single base substitution C T downstream_gene_variant ORCA-IN 2 74650583 74650583 single base substitution C T exon_variant ORCA-IN 2 74650583 74650583 single base substitution C T intron_variant ORCA-IN 2 74650583 74650583 single base substitution C T upstream_gene_variant ORCA-IN 2 74653388 74653388 single base substitution C A downstream_gene_variant ORCA-IN 2 74653570 74653570 single base substitution G T downstream_gene_variant OV-AU 2 74648524 74648524 single base substitution G A upstream_gene_variant OV-AU 2 74651291 74651291 single base substitution T G downstream_gene_variant OV-AU 2 74651291 74651291 single base substitution T G intron_variant OV-AU 2 74651291 74651291 single base substitution T G upstream_gene_variant OV-AU 2 74652285 74652285 single base substitution C G downstream_gene_variant OV-AU 2 74652285 74652285 single base substitution C G exon_variant OV-AU 2 74652285 74652285 single base substitution C G missense_variant T188S 563C>G OV-AU 2 74652285 74652285 single base substitution C G missense_variant T240S 719C>G PACA-AU 2 74647096 74647096 single base substitution T C upstream_gene_variant PACA-AU 2 74648092 74648092 single base substitution C A upstream_gene_variant PACA-AU 2 74648097 74648097 single base substitution C T upstream_gene_variant PACA-AU 2 74654872 74654872 deletion of <=200bp A - downstream_gene_variant PACA-CA 2 74645713 74645713 single base substitution G T upstream_gene_variant PACA-CA 2 74645806 74645806 single base substitution G T upstream_gene_variant PACA-CA 2 74646890 74646890 deletion of <=200bp T - upstream_gene_variant PACA-CA 2 74651228 74651228 single base substitution T G downstream_gene_variant PACA-CA 2 74651228 74651228 single base substitution T G intron_variant PACA-CA 2 74651228 74651228 single base substitution T G upstream_gene_variant PACA-CA 2 74651982 74651982 single base substitution G T downstream_gene_variant PACA-CA 2 74651982 74651982 single base substitution G T intron_variant PACA-CA 2 74651982 74651982 single base substitution G T upstream_gene_variant PBCA-DE 2 74643958 74643958 insertion of <=200bp - T upstream_gene_variant PRAD-UK 2 74646136 74646136 single base substitution C T upstream_gene_variant PRAD-UK 2 74646489 74646489 single base substitution C A upstream_gene_variant PRAD-UK 2 74646490 74646490 single base substitution A C upstream_gene_variant PRAD-UK 2 74647192 74647195 deletion of <=200bp AGAA - upstream_gene_variant PRAD-US 2 74655813 74655813 single base substitution G A downstream_gene_variant READ-US 2 74650452 74650452 single base substitution G A downstream_gene_variant READ-US 2 74650452 74650452 single base substitution G A exon_variant READ-US 2 74650452 74650452 single base substitution G A missense_variant E46K 136G>A READ-US 2 74650452 74650452 single base substitution G A missense_variant E98K 292G>A READ-US 2 74650452 74650452 single base substitution G A upstream_gene_variant READ-US 2 74653570 74653570 single base substitution G A downstream_gene_variant RECA-EU 2 74652858 74652858 single base substitution A G 3_prime_UTR_variant RECA-EU 2 74652858 74652858 single base substitution A G downstream_gene_variant RECA-EU 2 74652858 74652858 single base substitution A G exon_variant RECA-EU 2 74653030 74653030 single base substitution G T downstream_gene_variant RECA-EU 2 74657568 74657568 single base substitution T C downstream_gene_variant SKCA-BR 2 74646957 74646957 single base substitution G A upstream_gene_variant SKCA-BR 2 74653628 74653628 single base substitution T G downstream_gene_variant SKCM-US 2 74650042 74650042 single base substitution T C downstream_gene_variant SKCM-US 2 74650042 74650042 single base substitution T C exon_variant SKCM-US 2 74650042 74650042 single base substitution T C missense_variant S38P 112T>C SKCM-US 2 74650042 74650042 single base substitution T C missense_variant S90P 268T>C SKCM-US 2 74650042 74650042 single base substitution T C upstream_gene_variant SKCM-US 2 74650500 74650500 single base substitution G A downstream_gene_variant SKCM-US 2 74650500 74650500 single base substitution G A exon_variant SKCM-US 2 74650500 74650500 single base substitution G A missense_variant D114N 340G>A SKCM-US 2 74650500 74650500 single base substitution G A missense_variant D62N 184G>A SKCM-US 2 74650500 74650500 single base substitution G A upstream_gene_variant SKCM-US 2 74652712 74652712 single base substitution G A downstream_gene_variant SKCM-US 2 74652712 74652712 single base substitution G A exon_variant SKCM-US 2 74652712 74652712 single base substitution G A intron_variant SKCM-US 2 74652712 74652712 single base substitution G A missense_variant G297S 889G>A SKCM-US 2 74653396 74653396 single base substitution G A downstream_gene_variant SKCM-US 2 74654713 74654713 single base substitution G A downstream_gene_variant SKCM-US 2 74657620 74657620 single base substitution C T downstream_gene_variant SKCM-US 2 74657764 74657764 single base substitution G A downstream_gene_variant STAD-US 2 74650623 74650623 insertion of <=200bp - G downstream_gene_variant STAD-US 2 74650623 74650623 insertion of <=200bp - G exon_variant STAD-US 2 74650623 74650623 insertion of <=200bp - G frameshift_variant R124R? STAD-US 2 74650623 74650623 insertion of <=200bp - G frameshift_variant R72R? STAD-US 2 74650623 74650623 insertion of <=200bp - G intron_variant STAD-US 2 74650623 74650623 insertion of <=200bp - G upstream_gene_variant STAD-US 2 74652568 74652568 single base substitution T C downstream_gene_variant STAD-US 2 74652568 74652568 single base substitution T C exon_variant STAD-US 2 74652568 74652568 single base substitution T C missense_variant F223L 667T>C STAD-US 2 74652568 74652568 single base substitution T C missense_variant F275L 823T>C STAD-US 2 74653396 74653396 single base substitution G A downstream_gene_variant STAD-US 2 74653450 74653450 deletion of <=200bp G - downstream_gene_variant STAD-US 2 74654556 74654556 single base substitution T C downstream_gene_variant STAD-US 2 74657143 74657143 single base substitution A G downstream_gene_variant THCA-US 2 74656958 74656958 single base substitution A G downstream_gene_variant UCEC-US 2 74645558 74645558 single base substitution C T upstream_gene_variant UCEC-US 2 74650048 74650048 single base substitution C T downstream_gene_variant UCEC-US 2 74650048 74650048 single base substitution C T exon_variant UCEC-US 2 74650048 74650048 single base substitution C T stop_gained R40* 118C>T UCEC-US 2 74650048 74650048 single base substitution C T stop_gained R92* 274C>T UCEC-US 2 74650048 74650048 single base substitution C T upstream_gene_variant UCEC-US 2 74650493 74650493 single base substitution C T downstream_gene_variant UCEC-US 2 74650493 74650493 single base substitution C T exon_variant UCEC-US 2 74650493 74650493 single base substitution C T synonymous_variant D111D 333C>T UCEC-US 2 74650493 74650493 single base substitution C T synonymous_variant D59D 177C>T UCEC-US 2 74650493 74650493 single base substitution C T upstream_gene_variant UCEC-US 2 74652205 74652205 single base substitution T G downstream_gene_variant UCEC-US 2 74652205 74652205 single base substitution T G exon_variant UCEC-US 2 74652205 74652205 single base substitution T G intron_variant UCEC-US 2 74652205 74652205 single base substitution T G synonymous_variant V161V 483T>G UCEC-US 2 74652205 74652205 single base substitution T G synonymous_variant V213V 639T>G UCEC-US 2 74653404 74653404 single base substitution C T downstream_gene_variant UCEC-US 2 74654712 74654712 single base substitution C T downstream_gene_variant UCEC-US 2 74655844 74655844 single base substitution G A downstream_gene_variant UCEC-US 2 74656978 74656978 single base substitution G T downstream_gene_variant UCEC-US 2 74657611 74657611 single base substitution T G downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-EI-6917-01 COSM3426686 c.292G>A p.E98K Substitution - Missense 2:74423325-74423325 + TCGA-C8-A131-01 COSM443220 c.434T>C p.F145S Substitution - Missense 2:74423882-74423882 + PT55 COSM5941759 c.407-8G>A p.? Unknown 2:74423847-74423847 + TCGA-D1-A17Q-01 COSM1022980 c.274C>T p.R92* Substitution - Nonsense 2:74422921-74422921 + HCC2998 COSM1669073 c.971A>G p.D324G Substitution - Missense 2:74425667-74425667 + RK172_C01 COSM3702233 c.817G>A p.D273N Substitution - Missense 2:74425435-74425435 + AOCS-112-1-2 COSM4141247 c.719C>G p.T240S Substitution - Missense 2:74425158-74425158 + BD72T COSM5511729 c.925C>T p.R309* Substitution - Nonsense 2:74425621-74425621 + TCGA-BH-A1FG-01 COSM1483273 c.609A>G p.T203T Substitution - coding silent 2:74424949-74424949 + HN_63081 COSM130201 c.410C>T p.T137M Substitution - Missense 2:74423858-74423858 + HCT8 COSM4634861 c.890G>A p.G297D Substitution - Missense 2:74425586-74425586 + J63_T COSM3963077 c.226C>A p.H76N Substitution - Missense 2:74422873-74422873 + TCGA-34-2596-01 COSM722504 c.856G>A p.E286K Substitution - Missense 2:74425474-74425474 + TCGA-JW-A5VL-01 COSM4846977 c.814G>T p.E272* Substitution - Nonsense 2:74425432-74425432 + T3535 COSM4740993 c.193G>A p.A65T Substitution - Missense 2:74422346-74422346 + T2940 COSM4740997 c.931_932delTG p.C311fs*1 Deletion - Frameshift 2:74425627-74425628 + Pat_40_A COSM5862863 c.679G>A p.A227T Substitution - Missense 2:74425118-74425118 + TCGA-AM-5820-01 COSM3695607 c.769G>A p.A257T Substitution - Missense 2:74425208-74425208 + JVM-2 COSM1738772 c.422G>A p.R141Q Substitution - Missense 2:74423870-74423870 + BK0058 COSM4188266 c.200T>C p.V67A Substitution - Missense 2:74422353-74422353 + T263 COSM4740996 c.873+1G>A p.? Unknown 2:74425492-74425492 + TCGA-DK-A2I4-01 COSM3799191 c.338G>C p.G113A Substitution - Missense 2:74423371-74423371 + SA225 COSM212599 c.167A>T p.Q56L Substitution - Missense 2:74422320-74422320 + 587222 COSM1232612 c.326C>T p.A109V Substitution - Missense 2:74423359-74423359 + CSCC-7-T COSM4513829 c.951C>T p.S317S Substitution - coding silent 2:74425647-74425647 + TCGA-BR-6452-01 COSM4095750 c.823T>C p.F275L Substitution - Missense 2:74425441-74425441 + TCGA-AP-A0LM-01 COSM1022981 c.333C>T p.D111D Substitution - coding silent 2:74423366-74423366 + Au4 COSM5605347 c.629G>A p.G210E Substitution - Missense 2:74424969-74424969 + TCGA-IA-A40U-01 COSM3991452 c.533A>G p.Q178R Substitution - Missense 2:74423981-74423981 + TCGA-EE-A29G-06 COSM3583350 c.268T>C p.S90P Substitution - Missense 2:74422915-74422915 + TCGA-EE-A3J5-06 COSM3583352 c.889G>A p.G297S Substitution - Missense 2:74425585-74425585 + Gp2D COSM2999429 c.236T>C p.V79A Substitution - Missense 2:74422883-74422883 + 587228 COSM1232611 c.577C>G p.L193V Substitution - Missense 2:74424917-74424917 + HCC2998 COSM1669073 c.971A>G p.D324G Substitution - Missense 2:74425667-74425667 + 224 COSM4425659 c.264C>G p.L88L Substitution - coding silent 2:74422911-74422911 + HCC168 COSM3659956 c.674T>C p.I225T Substitution - Missense 2:74425113-74425113 + 384 COSM4426781 c.876delG p.E293fs*28 Deletion - Frameshift 2:74425572-74425572 + Gp5D COSM2999429 c.236T>C p.V79A Substitution - Missense 2:74422883-74422883 + 489 COSM3724173 c.1004G>C p.*335S Nonstop extension 2:74425700-74425700 + TCGA-AN-A0AK-01 COSM3840038 c.985C>T p.R329W Substitution - Missense 2:74425681-74425681 + Pat_02_B COSM2999434 c.371G>A p.R124Q Substitution - Missense 2:74423496-74423496 + 367 COSM3724174 c.274C>A p.R92R Substitution - coding silent 2:74422921-74422921 + sysucc-1370T COSM5471615 c.642G>A p.P214P Substitution - coding silent 2:74425081-74425081 + CSCC-19-T COSM4546797 c.407G>A p.G136E Substitution - Missense 2:74423855-74423855 + TCGA-B5-A11E-01 COSM1022982 c.639T>G p.V213V Substitution - coding silent 2:74425078-74425078 + ACINAR06 COSM1735360 c.222+9T>A p.? Unknown 2:74422384-74422384 + TCGA-HT-A614-01 COSM3972357 c.774G>A p.L258L Substitution - coding silent 2:74425213-74425213 + DLD1 COSM2999425 c.7C>A p.R3S Substitution - Missense 2:74422160-74422160 + HCT15 COSM2999425 c.7C>A p.R3S Substitution - Missense 2:74422160-74422160 + T3225 COSM4740994 c.285G>T p.Q95H Substitution - Missense 2:74422932-74422932 + HCC168T COSM3659956 c.674T>C p.I225T Substitution - Missense 2:74425113-74425113 + TCGA-EE-A2GN-06 COSM3583351 c.340G>A p.D114N Substitution - Missense 2:74423373-74423373 + sysucc-274T COSM5476398 c.874-8T>C p.? Unknown 2:74425562-74425562 + TCGA-G4-6315-01 COSM1409553 c.558G>A p.T186T Substitution - coding silent 2:74424898-74424898 + CSCC-11-T COSM4552427 c.558G>T p.T186T Substitution - coding silent 2:74424898-74424898 + T473 COSM4740995 c.722C>T p.T241I Substitution - Missense 2:74425161-74425161 + TCGA-18-3412-01 COSM722503 c.941C>A p.S314* Substitution - Nonsense 2:74425637-74425637 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.643480 2p13.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Synonymous p.T203T c.609A>G 2 74652076 BRCA A T Missense p.Q56L c.167A>T 2 74649447 BRCA A T Synonymous p.P200P c.600A>T 2 74652067 HNSC C A IntronicSNV . c.799-79C>A 2 74652465 NSCLC C A Nonsense p.S314* c.941C>A 2 74652764 LUSC C T Missense p.T137M c.410C>T 2 74650985 HNSC C T Missense p.T32M c.95C>T 2 74649375 STAD G A Missense p.D114N c.340G>A 2 74650500 CM G A Missense p.E286K c.856G>A 2 74652601 LUSC G A Missense p.G297S c.889G>A 2 74652712 CM G C 3-UTRSNV . c.1002+2G>C 2 74652827 HNSC G C Missense p.G113A c.338G>C 2 74650498 BLCA G T Missense p.R197L c.590G>T 2 74652057 LUAD T C Missense p.F145S c.434T>C 2 74651009 BRCA T C Missense p.S90P c.268T>C 2 74650042 CM T C Synonymous p.F310F c.930T>C 2 74652753 LUAD T G Missense p.V121G c.362T>G 2 74650614 LUAD