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 20 48562681 48562681 + Missense_Mutation SNP C C T TCGA-OR-A5J2-01A-11D-A29I-10 TCGA-OR-A5J2-10A-01D-A29L-10 g.chr20:48562681C>T c.407C>T c.(406-408)cCa>cTa p.P136L BLCA 20 48558189 48558189 + Missense_Mutation SNP G G T TCGA-E7-A4IJ-01A-31D-A26M-08 TCGA-E7-A4IJ-10A-01D-A26K-08 g.chr20:48558189G>T c.232G>T c.(232-234)Gtg>Ttg p.V78L BLCA 20 48562721 48562721 + Silent SNP G G A TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr20:48562721G>A c.447G>A c.(445-447)aaG>aaA p.K149K BLCA 20 48565831 48565831 + Missense_Mutation SNP G G A TCGA-XF-A9SY-01A-21D-A42E-08 TCGA-XF-A9SY-10A-01D-A42H-08 g.chr20:48565831G>A c.560G>A c.(559-561)cGc>cAc p.R187H BLCA 20 48568643 48568643 + Missense_Mutation SNP A A G TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr20:48568643A>G c.652A>G c.(652-654)Aat>Gat p.N218D BRCA 20 48552965 48552965 + Missense_Mutation SNP C C G TCGA-E9-A54Y-01A-11D-A25Q-09 TCGA-E9-A54Y-10A-01D-A25Q-09 g.chr20:48552965C>G c.16C>G c.(16-18)Cgg>Ggg p.R6G CESC 20 48553058 48553058 + Missense_Mutation SNP G G C TCGA-LP-A5U2-01A-11D-A28B-09 TCGA-LP-A5U2-10A-01D-A28E-09 g.chr20:48553058G>C c.109G>C c.(109-111)Gag>Cag p.E37Q COAD 20 48558184 48558184 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr20:48558184G>A c.227G>A c.(226-228)cGa>cAa p.R76Q COADREAD 20 48558184 48558184 + Missense_Mutation SNP G G A TCGA-AZ-6598-01A-11D-1771-10 TCGA-AZ-6598-11A-01D-1771-10 g.chr20:48558184G>A c.227G>A c.(226-228)cGa>cAa p.R76Q ESCA 20 48568670 48568670 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr20:48568670G>A c.679G>A c.(679-681)Gac>Aac p.D227N GBMLGG 20 48558201 48558201 + Missense_Mutation SNP C C T TCGA-RY-A847-01A-11D-A36O-08 TCGA-RY-A847-10A-01D-A367-08 g.chr20:48558201C>T c.244C>T c.(244-246)Cgg>Tgg p.R82W KIPAN 20 48561952 48561952 + Missense_Mutation SNP A A G TCGA-B0-4823-01A-02D-1421-08 TCGA-B0-4823-11A-01D-1421-08 g.chr20:48561952A>G c.325A>G c.(325-327)Act>Gct p.T109A KIPAN 20 48562762 48562762 + Missense_Mutation SNP T T A TCGA-2Z-A9J3-01A-12D-A382-10 TCGA-2Z-A9J3-10A-01D-A385-10 g.chr20:48562762T>A c.488T>A c.(487-489)tTc>tAc p.F163Y KIRC 20 48561952 48561952 + Missense_Mutation SNP A A G TCGA-B0-4823-01A-02D-1421-08 TCGA-B0-4823-11A-01D-1421-08 g.chr20:48561952A>G c.325A>G c.(325-327)Act>Gct p.T109A KIRP 20 48562762 48562762 + Missense_Mutation SNP T T A TCGA-2Z-A9J3-01A-12D-A382-10 TCGA-2Z-A9J3-10A-01D-A385-10 g.chr20:48562762T>A c.488T>A c.(487-489)tTc>tAc p.F163Y LGG 20 48558201 48558201 + Missense_Mutation SNP C C T TCGA-RY-A847-01A-11D-A36O-08 TCGA-RY-A847-10A-01D-A367-08 g.chr20:48558201C>T c.244C>T c.(244-246)Cgg>Tgg p.R82W LIHC 20 48553085 48553085 + Missense_Mutation SNP C C T TCGA-DD-AADK-01A-11D-A40R-10 TCGA-DD-AADK-10A-01D-A40U-10 g.chr20:48553085C>T c.136C>T c.(136-138)Cac>Tac p.H46Y LUSC 20 48568613 48568613 + Splice_Site SNP G G T TCGA-21-1071-01A-01D-1521-08 TCGA-21-1071-11A-01D-1521-08 g.chr20:48568613G>T c.622G>T c.(622-624)Gat>Tat p.D208Y OV 20 48558183 48558183 + Nonsense_Mutation SNP C C T TCGA-04-1347-01A-01W-0488-09 TCGA-04-1347-11A-01W-0489-09 g.chr20:48558183C>T c.226C>T c.(226-228)Cga>Tga p.R76* PAAD 20 48561946 48561946 + Missense_Mutation SNP G G A TCGA-2L-AAQL-01A-11D-A38G-08 TCGA-2L-AAQL-11A-11D-A38J-08 g.chr20:48561946G>A c.319G>A c.(319-321)Gtg>Atg p.V107M PAAD 20 48561967 48561967 + Missense_Mutation SNP C C G TCGA-3A-A9IV-01A-11D-A40W-08 TCGA-3A-A9IV-10A-01D-A40W-08 g.chr20:48561967C>G c.340C>G c.(340-342)Cag>Gag p.Q114E SKCM 20 48562680 48562680 + Missense_Mutation SNP C C T TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr20:48562680C>T c.406C>T c.(406-408)Cca>Tca p.P136S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 20 48562721 48562721 single base substitution G A synonymous_variant K149K 447G>A BRCA-EU 20 48548237 48548237 single base substitution C G upstream_gene_variant BRCA-EU 20 48548491 48548491 single base substitution C G upstream_gene_variant BRCA-EU 20 48548614 48548614 insertion of <=200bp - A upstream_gene_variant BRCA-EU 20 48548637 48548637 single base substitution C G upstream_gene_variant BRCA-EU 20 48548744 48548744 single base substitution G T upstream_gene_variant BRCA-EU 20 48550470 48550470 single base substitution C T upstream_gene_variant BRCA-EU 20 48550916 48550916 deletion of <=200bp G - upstream_gene_variant BRCA-EU 20 48550925 48550925 single base substitution A T upstream_gene_variant BRCA-EU 20 48551518 48551518 single base substitution G C upstream_gene_variant BRCA-EU 20 48553378 48553378 insertion of <=200bp - GTG intron_variant BRCA-EU 20 48553954 48553954 single base substitution C G intron_variant BRCA-EU 20 48554259 48554259 single base substitution G T intron_variant BRCA-EU 20 48554974 48554974 insertion of <=200bp - T intron_variant BRCA-EU 20 48556477 48556477 single base substitution G T intron_variant BRCA-EU 20 48556644 48556644 single base substitution G C intron_variant BRCA-EU 20 48560983 48560983 single base substitution C T intron_variant BRCA-EU 20 48563067 48563067 single base substitution A G intron_variant BRCA-EU 20 48563872 48563872 single base substitution A G intron_variant BRCA-EU 20 48563877 48563877 single base substitution T A intron_variant BRCA-EU 20 48563878 48563878 single base substitution T A intron_variant BRCA-EU 20 48563914 48563914 single base substitution A C intron_variant BRCA-EU 20 48564294 48564294 single base substitution C T intron_variant BRCA-EU 20 48564729 48564729 single base substitution C G intron_variant BRCA-EU 20 48564966 48564966 single base substitution A T intron_variant BRCA-EU 20 48565747 48565747 single base substitution G C intron_variant BRCA-EU 20 48566878 48566878 single base substitution C T intron_variant BRCA-EU 20 48566949 48566949 single base substitution G A intron_variant BRCA-EU 20 48567236 48567236 single base substitution A C intron_variant BRCA-EU 20 48567241 48567241 single base substitution A C intron_variant BRCA-EU 20 48568741 48568741 single base substitution A C 3_prime_UTR_variant BRCA-EU 20 48568935 48568935 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 20 48569679 48569679 single base substitution C T 3_prime_UTR_variant BRCA-EU 20 48570684 48570684 single base substitution C G downstream_gene_variant BRCA-EU 20 48571514 48571514 single base substitution C G downstream_gene_variant BRCA-EU 20 48572466 48572466 single base substitution A T downstream_gene_variant BRCA-EU 20 48572605 48572605 single base substitution C T downstream_gene_variant BRCA-EU 20 48572754 48572754 single base substitution G T downstream_gene_variant BRCA-EU 20 48573166 48573166 single base substitution C T downstream_gene_variant BRCA-EU 20 48573471 48573471 single base substitution C T downstream_gene_variant BRCA-EU 20 48573790 48573790 single base substitution G A downstream_gene_variant BRCA-EU 20 48574801 48574801 single base substitution C A downstream_gene_variant BRCA-EU 20 48575012 48575012 single base substitution C T downstream_gene_variant BRCA-EU 20 48575321 48575321 deletion of <=200bp A - downstream_gene_variant BRCA-FR 20 48548237 48548237 single base substitution C G upstream_gene_variant BRCA-FR 20 48548637 48548637 single base substitution C G upstream_gene_variant BRCA-FR 20 48560983 48560983 single base substitution C T intron_variant BRCA-FR 20 48573263 48573263 single base substitution C A downstream_gene_variant BRCA-FR 20 48573471 48573471 single base substitution C T downstream_gene_variant BRCA-UK 20 48570533 48570533 single base substitution G A downstream_gene_variant BRCA-US 20 48552965 48552965 single base substitution C G missense_variant R6G 16C>G BTCA-JP 20 48562084 48562084 insertion of <=200bp - TTGGACACC intron_variant BTCA-JP 20 48562813 48562813 single base substitution A T intron_variant BTCA-JP 20 48568670 48568670 single base substitution G A missense_variant D227N 679G>A CESC-US 20 48553058 48553058 single base substitution G C missense_variant E37Q 109G>C CLLE-ES 20 48548334 48548334 single base substitution C T upstream_gene_variant CLLE-ES 20 48570156 48570156 single base substitution C G 3_prime_UTR_variant COAD-US 20 48562686 48562686 single base substitution C T missense_variant R138C 412C>T COCA-CN 20 48552974 48552974 single base substitution G A missense_variant G9R 25G>A COCA-CN 20 48557068 48557068 single base substitution A C intron_variant COCA-CN 20 48558159 48558159 single base substitution C T missense_variant R68C 202C>T COCA-CN 20 48562295 48562295 single base substitution C T intron_variant COCA-CN 20 48565940 48565940 single base substitution G A intron_variant ESAD-UK 20 48548297 48548297 single base substitution T C upstream_gene_variant ESAD-UK 20 48549350 48549350 single base substitution C T upstream_gene_variant ESAD-UK 20 48549622 48549622 single base substitution C T upstream_gene_variant ESAD-UK 20 48549966 48549966 single base substitution C A upstream_gene_variant ESAD-UK 20 48550916 48550916 insertion of <=200bp - G upstream_gene_variant ESAD-UK 20 48551738 48551738 single base substitution G T upstream_gene_variant ESAD-UK 20 48556866 48556866 single base substitution A G intron_variant ESAD-UK 20 48566671 48566671 single base substitution C T intron_variant ESAD-UK 20 48568921 48568921 single base substitution T C 3_prime_UTR_variant ESAD-UK 20 48570578 48570578 single base substitution C T downstream_gene_variant ESAD-UK 20 48572109 48572109 single base substitution G A downstream_gene_variant ESAD-UK 20 48572749 48572749 single base substitution C A downstream_gene_variant ESAD-UK 20 48573771 48573771 single base substitution T C downstream_gene_variant ESAD-UK 20 48574011 48574011 single base substitution C T downstream_gene_variant ESCA-CN 20 48558134 48558134 single base substitution G A synonymous_variant P59P 177G>A KIRC-US 20 48561952 48561952 single base substitution A G missense_variant T109A 325A>G LICA-FR 20 48567342 48567342 single base substitution G T intron_variant LIHC-US 20 48568649 48568649 single base substitution G T missense_variant V220L 658G>T LINC-JP 20 48550936 48550936 single base substitution G A upstream_gene_variant LINC-JP 20 48554535 48554535 single base substitution G A intron_variant LINC-JP 20 48554891 48554891 single base substitution A G intron_variant LINC-JP 20 48565630 48565630 single base substitution T A intron_variant LINC-JP 20 48570771 48570771 single base substitution A C downstream_gene_variant LIRI-JP 20 48549522 48549522 single base substitution A T upstream_gene_variant LIRI-JP 20 48551260 48551260 single base substitution C A upstream_gene_variant LIRI-JP 20 48554860 48554860 single base substitution T C intron_variant LIRI-JP 20 48557712 48557712 single base substitution G A intron_variant LIRI-JP 20 48557945 48557945 single base substitution T C intron_variant LIRI-JP 20 48559170 48559170 single base substitution G T intron_variant LIRI-JP 20 48567428 48567428 single base substitution C A intron_variant LIRI-JP 20 48568002 48568002 single base substitution C T intron_variant LIRI-JP 20 48568488 48568488 single base substitution C T intron_variant LIRI-JP 20 48569228 48569228 single base substitution A G 3_prime_UTR_variant LIRI-JP 20 48569332 48569332 single base substitution G T 3_prime_UTR_variant LIRI-JP 20 48571185 48571185 single base substitution G A downstream_gene_variant LIRI-JP 20 48572288 48572288 single base substitution T G downstream_gene_variant LIRI-JP 20 48572316 48572316 single base substitution G A downstream_gene_variant LIRI-JP 20 48574582 48574582 single base substitution A G downstream_gene_variant LUSC-KR 20 48552737 48552737 single base substitution C A upstream_gene_variant LUSC-KR 20 48554342 48554342 single base substitution C G intron_variant LUSC-KR 20 48554793 48554793 single base substitution C A intron_variant LUSC-KR 20 48560374 48560374 single base substitution C T intron_variant LUSC-KR 20 48562116 48562116 single base substitution T C intron_variant LUSC-KR 20 48563301 48563301 single base substitution T C intron_variant LUSC-KR 20 48564865 48564865 single base substitution A G intron_variant LUSC-KR 20 48569008 48569008 single base substitution C T 3_prime_UTR_variant LUSC-KR 20 48569485 48569485 single base substitution G A 3_prime_UTR_variant LUSC-KR 20 48574671 48574671 single base substitution A C downstream_gene_variant LUSC-KR 20 48574839 48574839 single base substitution G A downstream_gene_variant LUSC-US 20 48568613 48568613 single base substitution G T missense_variant D208Y 622G>T MALY-DE 20 48548854 48548854 deletion of <=200bp A - upstream_gene_variant MALY-DE 20 48552157 48552157 single base substitution C G upstream_gene_variant MALY-DE 20 48558133 48558133 single base substitution C T missense_variant P59L 176C>T MALY-DE 20 48562455 48562455 single base substitution G A intron_variant MALY-DE 20 48575204 48575204 single base substitution T C downstream_gene_variant MELA-AU 20 48548271 48548271 single base substitution G A upstream_gene_variant MELA-AU 20 48548483 48548483 single base substitution C T upstream_gene_variant MELA-AU 20 48548986 48548986 single base substitution G A upstream_gene_variant MELA-AU 20 48549145 48549145 single base substitution G A upstream_gene_variant MELA-AU 20 48549185 48549185 single base substitution G A upstream_gene_variant MELA-AU 20 48549696 48549696 single base substitution C T upstream_gene_variant MELA-AU 20 48549739 48549739 single base substitution C T upstream_gene_variant MELA-AU 20 48550419 48550419 single base substitution G A upstream_gene_variant MELA-AU 20 48550825 48550825 single base substitution G C upstream_gene_variant MELA-AU 20 48551272 48551272 single base substitution G A upstream_gene_variant MELA-AU 20 48551691 48551692 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 20 48552867 48552867 single base substitution C T upstream_gene_variant MELA-AU 20 48552872 48552872 single base substitution C T upstream_gene_variant MELA-AU 20 48552898 48552898 single base substitution C T upstream_gene_variant MELA-AU 20 48554954 48554954 single base substitution C T intron_variant MELA-AU 20 48555814 48555814 single base substitution C T intron_variant MELA-AU 20 48555924 48555924 single base substitution C T intron_variant MELA-AU 20 48555982 48555982 single base substitution T C intron_variant MELA-AU 20 48556972 48556972 single base substitution G A intron_variant MELA-AU 20 48557059 48557059 single base substitution C T intron_variant MELA-AU 20 48557298 48557298 single base substitution C T intron_variant MELA-AU 20 48557380 48557380 single base substitution G A intron_variant MELA-AU 20 48557742 48557742 single base substitution C T intron_variant MELA-AU 20 48557935 48557935 single base substitution C T intron_variant MELA-AU 20 48558183 48558183 single base substitution C T stop_gained R76* 226C>T MELA-AU 20 48558407 48558407 single base substitution C T intron_variant MELA-AU 20 48558554 48558554 single base substitution C T intron_variant MELA-AU 20 48558561 48558561 single base substitution G A intron_variant MELA-AU 20 48558701 48558701 single base substitution C T intron_variant MELA-AU 20 48559046 48559046 single base substitution C T intron_variant MELA-AU 20 48559598 48559598 single base substitution C T intron_variant MELA-AU 20 48559626 48559626 single base substitution C T intron_variant MELA-AU 20 48559628 48559628 single base substitution C T intron_variant MELA-AU 20 48560360 48560360 insertion of <=200bp - TATATA intron_variant MELA-AU 20 48560428 48560428 single base substitution T C intron_variant MELA-AU 20 48560446 48560446 single base substitution T C intron_variant MELA-AU 20 48560900 48560900 single base substitution C T intron_variant MELA-AU 20 48561936 48561936 single base substitution C T synonymous_variant I103I 309C>T MELA-AU 20 48563392 48563392 single base substitution G A intron_variant MELA-AU 20 48563890 48563890 single base substitution T G intron_variant MELA-AU 20 48564229 48564229 single base substitution C T intron_variant MELA-AU 20 48564655 48564655 single base substitution C T intron_variant MELA-AU 20 48564824 48564824 single base substitution C T intron_variant MELA-AU 20 48565066 48565066 single base substitution C T intron_variant MELA-AU 20 48565269 48565269 single base substitution C T intron_variant MELA-AU 20 48565962 48565962 single base substitution G A intron_variant MELA-AU 20 48565965 48565965 single base substitution G A intron_variant MELA-AU 20 48566671 48566671 single base substitution C T intron_variant MELA-AU 20 48567334 48567334 single base substitution A G intron_variant MELA-AU 20 48567378 48567378 single base substitution C A intron_variant MELA-AU 20 48567986 48567986 single base substitution C T intron_variant MELA-AU 20 48568204 48568204 single base substitution C T intron_variant MELA-AU 20 48568409 48568409 single base substitution C T intron_variant MELA-AU 20 48569662 48569662 single base substitution C T 3_prime_UTR_variant MELA-AU 20 48569739 48569739 single base substitution C T 3_prime_UTR_variant MELA-AU 20 48569756 48569756 single base substitution C T 3_prime_UTR_variant MELA-AU 20 48570396 48570396 single base substitution A G 3_prime_UTR_variant MELA-AU 20 48570632 48570632 single base substitution G A downstream_gene_variant MELA-AU 20 48570654 48570654 single base substitution C T downstream_gene_variant MELA-AU 20 48570919 48570919 single base substitution C T downstream_gene_variant MELA-AU 20 48570949 48570949 single base substitution T C downstream_gene_variant MELA-AU 20 48570967 48570967 single base substitution C T downstream_gene_variant MELA-AU 20 48571214 48571215 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 20 48571675 48571675 single base substitution C T downstream_gene_variant MELA-AU 20 48571817 48571817 single base substitution G T downstream_gene_variant MELA-AU 20 48573361 48573362 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 20 48574194 48574194 single base substitution T C downstream_gene_variant MELA-AU 20 48574697 48574697 single base substitution T C downstream_gene_variant MELA-AU 20 48575116 48575116 single base substitution C T downstream_gene_variant MELA-AU 20 48575229 48575229 single base substitution C T downstream_gene_variant ORCA-IN 20 48559113 48559113 single base substitution A C intron_variant ORCA-IN 20 48568904 48568904 single base substitution C T 3_prime_UTR_variant OV-AU 20 48552155 48552155 single base substitution C G upstream_gene_variant OV-AU 20 48553524 48553524 single base substitution C T intron_variant OV-AU 20 48557519 48557519 single base substitution G C intron_variant OV-AU 20 48561493 48561493 single base substitution G A intron_variant OV-AU 20 48564998 48564998 single base substitution C T intron_variant OV-AU 20 48565138 48565138 single base substitution C G intron_variant OV-AU 20 48565607 48565607 single base substitution C G intron_variant OV-AU 20 48567172 48567172 single base substitution A G intron_variant OV-AU 20 48567903 48567903 single base substitution C T intron_variant OV-AU 20 48570520 48570520 single base substitution C G downstream_gene_variant OV-US 20 48558183 48558183 single base substitution C T stop_gained R76* 226C>T PACA-AU 20 48548689 48548689 single base substitution A C upstream_gene_variant PACA-AU 20 48552669 48552669 single base substitution T A upstream_gene_variant PACA-AU 20 48552870 48552870 single base substitution A C upstream_gene_variant PACA-AU 20 48557935 48557935 single base substitution C T intron_variant PACA-AU 20 48560360 48560360 insertion of <=200bp - TATATA intron_variant PACA-AU 20 48560370 48560370 single base substitution T C intron_variant PACA-AU 20 48560411 48560411 insertion of <=200bp - ATATATAT intron_variant PACA-AU 20 48561437 48561437 single base substitution G A intron_variant PACA-AU 20 48561753 48561753 single base substitution A G intron_variant PACA-AU 20 48562494 48562494 single base substitution C T intron_variant PACA-AU 20 48574697 48574697 single base substitution T C downstream_gene_variant PACA-CA 20 48551114 48551114 single base substitution A G upstream_gene_variant PACA-CA 20 48552022 48552022 single base substitution C G upstream_gene_variant PACA-CA 20 48552173 48552173 single base substitution T G upstream_gene_variant PACA-CA 20 48552923 48552923 single base substitution C G upstream_gene_variant PACA-CA 20 48553431 48553431 single base substitution C G intron_variant PACA-CA 20 48558058 48558059 deletion of <=200bp CA - intron_variant PACA-CA 20 48558061 48558061 deletion of <=200bp G - intron_variant PACA-CA 20 48559205 48559205 insertion of <=200bp - A intron_variant PACA-CA 20 48561435 48561435 single base substitution A G intron_variant PACA-CA 20 48562098 48562098 single base substitution G A intron_variant PACA-CA 20 48565780 48565780 single base substitution G A splice_region_variant PACA-CA 20 48568800 48568813 deletion of <=200bp ACAGGGTCACTTCT - 3_prime_UTR_variant PACA-CA 20 48568816 48568837 deletion of <=200bp CAGGGGAAGTGGGTCCCCAGGT - 3_prime_UTR_variant PAEN-AU 20 48560726 48560726 single base substitution C G intron_variant PAEN-AU 20 48566327 48566327 single base substitution G A intron_variant PAEN-IT 20 48548078 48548078 single base substitution C A upstream_gene_variant PAEN-IT 20 48570520 48570520 single base substitution C A downstream_gene_variant PAEN-IT 20 48571216 48571216 single base substitution C A downstream_gene_variant PAEN-IT 20 48575214 48575214 single base substitution C T downstream_gene_variant PBCA-DE 20 48560991 48560991 single base substitution G T intron_variant PBCA-DE 20 48563782 48563782 single base substitution A T intron_variant PBCA-DE 20 48566253 48566253 single base substitution C T intron_variant PBCA-DE 20 48569165 48569165 single base substitution G T 3_prime_UTR_variant PRAD-CA 20 48567657 48567657 single base substitution A G intron_variant RECA-EU 20 48556172 48556172 single base substitution T C intron_variant RECA-EU 20 48559373 48559373 single base substitution A G intron_variant RECA-EU 20 48565295 48565295 single base substitution C T intron_variant RECA-EU 20 48569063 48569063 single base substitution T G 3_prime_UTR_variant RECA-EU 20 48570159 48570159 single base substitution G T 3_prime_UTR_variant RECA-EU 20 48575320 48575320 single base substitution C A downstream_gene_variant SKCA-BR 20 48548141 48548141 single base substitution G T upstream_gene_variant SKCA-BR 20 48549794 48549794 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 20 48550979 48550979 single base substitution G A upstream_gene_variant SKCA-BR 20 48557304 48557304 single base substitution C T intron_variant SKCA-BR 20 48557936 48557936 single base substitution C T intron_variant SKCA-BR 20 48560410 48560410 insertion of <=200bp - GAGAT intron_variant SKCA-BR 20 48560410 48560410 insertion of <=200bp - GATAT intron_variant SKCA-BR 20 48561160 48561160 single base substitution G T intron_variant SKCA-BR 20 48562813 48562813 single base substitution A T intron_variant SKCA-BR 20 48562819 48562819 single base substitution C T intron_variant SKCA-BR 20 48563457 48563457 insertion of <=200bp - TA intron_variant SKCA-BR 20 48563588 48563588 single base substitution C T intron_variant SKCA-BR 20 48563757 48563757 single base substitution C G intron_variant SKCA-BR 20 48565569 48565569 single base substitution C T intron_variant SKCA-BR 20 48565986 48565986 single base substitution G A intron_variant SKCA-BR 20 48566594 48566594 single base substitution C T intron_variant SKCA-BR 20 48574116 48574116 single base substitution T C downstream_gene_variant SKCA-BR 20 48574939 48574939 single base substitution C G downstream_gene_variant SKCM-US 20 48561960 48561960 single base substitution C A synonymous_variant S111S 333C>A SKCM-US 20 48562680 48562680 single base substitution C T missense_variant P136S 406C>T THCA-SA 20 48568929 48568929 single base substitution G T 3_prime_UTR_variant THCA-SA 20 48569127 48569127 single base substitution G A 3_prime_UTR_variant THCA-SA 20 48569278 48569278 single base substitution T C 3_prime_UTR_variant UCEC-US 20 48558140 48558140 single base substitution G T missense_variant K61N 183G>T UCEC-US 20 48558160 48558160 single base substitution G A missense_variant R68H 203G>A UCEC-US 20 48558165 48558165 single base substitution G A missense_variant A70T 208G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand BD57T COSM5511166 c.679G>A p.D227N Substitution - Missense 20:49952133-49952133 + TCGA-B0-4823-01 COSM478288 c.325A>G p.T109A Substitution - Missense 20:49945415-49945415 + 234 COSM3731281 c.425C>A p.P142H Substitution - Missense 20:49946162-49946162 + TCGA-AP-A0LM-01 COSM1027912 c.208G>A p.A70T Substitution - Missense 20:49941628-49941628 + TCGA-LP-A5U2-01 COSM4833686 c.109G>C p.E37Q Substitution - Missense 20:49936521-49936521 + TCGA-D1-A0ZV-01 COSM1027911 c.203G>A p.R68H Substitution - Missense 20:49941623-49941623 + 3N48-VS-3T48 COSM2762435 c.634G>A p.D212N Substitution - Missense 20:49952088-49952088 + S02255 COSM5680721 c.3G>C p.M1I Substitution - Missense 20:49936415-49936415 + 2476_PT COSM5755603 c.146G>T p.C49F Substitution - Missense 20:49941566-49941566 + TCGA-04-1347-01 COSM79272 c.226C>T p.R76* Substitution - Nonsense 20:49941646-49941646 + sysucc-1150T COSM5452503 c.25G>A p.G9R Substitution - Missense 20:49936437-49936437 + T204 COSM1412406 c.227G>A p.R76Q Substitution - Missense 20:49941647-49941647 + TCGA-21-1071-01 COSM724229 c.622G>T p.D208Y Substitution - Missense 20:49952076-49952076 + T3436 COSM4721957 c.283C>T p.R95C Substitution - Missense 20:49941703-49941703 + STC297 COSM5057403 c.564C>T p.S188S Substitution - coding silent 20:49949298-49949298 + TCGA-FS-A1ZB-06 COSM3547610 c.333C>A p.S111S Substitution - coding silent 20:49945423-49945423 + TCGA-G4-6320-01 COSM3693568 c.412C>T p.R138C Substitution - Missense 20:49946149-49946149 + T2939 COSM1027912 c.208G>A p.A70T Substitution - Missense 20:49941628-49941628 + CSCC-52-T COSM4498486 c.520C>T p.P174S Substitution - Missense 20:49949254-49949254 + sysucc-274T COSM5476181 c.202C>T p.R68C Substitution - Missense 20:49941622-49941622 + TCGA-FS-A1ZZ-06 COSM3547611 c.406C>T p.P136S Substitution - Missense 20:49946143-49946143 + TCGA-DK-A2I4-01 COSM3799649 c.447G>A p.K149K Substitution - coding silent 20:49946184-49946184 + ESCC_BICR_054T COSM5444256 c.177G>A p.P59P Substitution - coding silent 20:49941597-49941597 + CSCC-38-T COSM4493251 c.411C>T p.N137N Substitution - coding silent 20:49946148-49946148 + tumor_4121361 COSM3357260 c.176C>T p.P59L Substitution - Missense 20:49941596-49941596 + Br27P COSM40788 c.47G>A p.G16E Substitution - Missense 20:49936459-49936459 + TCGA-AP-A059-01 COSM1027910 c.183G>T p.K61N Substitution - Missense 20:49941603-49941603 + TCGA-G3-A7M5-01 COSM4941871 c.658G>T p.V220L Substitution - Missense 20:49952112-49952112 + TCGA-E9-A54Y-01 COSM3841269 c.16C>G p.R6G Substitution - Missense 20:49936428-49936428 + LUAD-B00523 COSM331944 c.651G>T p.M217I Substitution - Missense 20:49952105-49952105 + STC232 COSM5057402 c.207C>T p.S69S Substitution - coding silent 20:49941627-49941627 + ccRCC-76 COSM1666072 c.178_179insAG p.K61fs*62 Insertion - Frameshift 20:49941598-49941599 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.144949 20q13.13 612451 2465004|CGAP|BC013695|C/T|non-coding||2251|Candidate; 2465004|CGAP|BC066919|C/T|non-coding||2260|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.T109A c.325A>G 20 48561952 RCCC C A Synonymous p.S111S c.333C>A 20 48561960 CM C G IntronicSNV . c.398+62C>G 20 48562087 NSCLC C T Missense p.P136S c.406C>T 20 48562680 CM C T Missense p.P144S c.430C>T 20 48562704 CM C T Missense p.P59L c.176C>T 20 48558133 DLBCL C T Nonsense p.R76* c.226C>T 20 48558183 OV G A Missense p.R68H c.203G>A 20 48558160 UCEC G A Synonymous p.K149K c.447G>A 20 48562721 BLCA G T Missense p.D208Y c.622G>T 20 48568613 LUSC T C Synonymous p.G120G c.360T>C 20 48561987 STAD