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 2 220072076 220072076 + Missense_Mutation SNP G G A TCGA-XF-A9T6-01A-11D-A42E-08 TCGA-XF-A9T6-10A-01D-A42H-08 g.chr2:220072076G>A c.83G>A c.(82-84)tGc>tAc p.C28Y BLCA 2 220072409 220072409 + Missense_Mutation SNP G G C TCGA-4Z-AA84-01A-11D-A391-08 TCGA-4Z-AA84-10A-01D-A394-08 g.chr2:220072409G>C c.190G>C c.(190-192)Gtg>Ctg p.V64L BLCA 2 220073014 220073014 + Silent SNP T T G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr2:220073014T>G c.471T>G c.(469-471)tcT>tcG p.S157S BLCA 2 220073293 220073293 + Splice_Site SNP G G C TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr2:220073293G>C c.e7-1 BRCA 2 220072393 220072393 + Silent SNP T T C TCGA-AR-A1AR-01A-31D-A135-09 TCGA-AR-A1AR-10A-01D-A135-09 g.chr2:220072393T>C c.174T>C c.(172-174)ccT>ccC p.P58P BRCA 2 220073995 220073995 + Silent SNP C C T TCGA-C8-A1HE-01A-11D-A188-09 TCGA-C8-A1HE-10A-01D-A13O-09 g.chr2:220073995C>T c.741C>T c.(739-741)cgC>cgT p.R247R CESC 2 220072422 220072422 + Missense_Mutation SNP G G T TCGA-EK-A2PG-01A-11D-A18J-09 TCGA-EK-A2PG-10A-01D-A18J-09 g.chr2:220072422G>T c.203G>T c.(202-204)aGa>aTa p.R68I CHOL 2 220072731 220072731 + Silent SNP T T C TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr2:220072731T>C c.405T>C c.(403-405)tcT>tcC p.S135S CHOL 2 220072980 220072980 + Missense_Mutation SNP T T G TCGA-W5-AA39-01A-11D-A417-09 TCGA-W5-AA39-10A-01D-A41A-09 g.chr2:220072980T>G c.437T>G c.(436-438)cTt>cGt p.L146R COAD 2 220072683 220072683 + Silent SNP C C T TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chr2:220072683C>T c.357C>T c.(355-357)agC>agT p.S119S COAD 2 220073735 220073735 + Silent SNP A A T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr2:220073735A>T c.693A>T c.(691-693)gcA>gcT p.A231A COADREAD 2 220072092 220072092 + Silent SNP C C T TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr2:220072092C>T c.99C>T c.(97-99)tgC>tgT p.C33C COADREAD 2 220072683 220072683 + Silent SNP C C T TCGA-G4-6317-01A-11D-1719-10 TCGA-G4-6317-10A-01D-1720-10 g.chr2:220072683C>T c.357C>T c.(355-357)agC>agT p.S119S COADREAD 2 220073735 220073735 + Silent SNP A A T TCGA-AY-6197-01A-11D-1719-10 TCGA-AY-6197-10A-01D-1719-10 g.chr2:220073735A>T c.693A>T c.(691-693)gcA>gcT p.A231A DLBC 2 220072382 220072382 + Missense_Mutation SNP C C T TCGA-GR-7351-01A-11D-2210-10 TCGA-GR-7351-10A-01D-2210-10 g.chr2:220072382C>T c.163C>T c.(163-165)Cct>Tct p.P55S ESCA 2 220071745 220071745 + Silent SNP G G A TCGA-V5-AASV-01A-11D-A387-09 TCGA-V5-AASV-10A-01D-A38A-09 g.chr2:220071745G>A c.36G>A c.(34-36)gaG>gaA p.E12E GBM 2 220073015 220073015 + Missense_Mutation SNP A A G TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 g.chr2:220073015A>G c.472A>G c.(472-474)Aca>Gca p.T158A GBMLGG 2 220072487 220072487 + Missense_Mutation SNP C C G TCGA-HT-7604-01A-11D-2086-08 TCGA-HT-7604-10A-01D-2086-08 g.chr2:220072487C>G c.268C>G c.(268-270)Cag>Gag p.Q90E GBMLGG 2 220073015 220073015 + Missense_Mutation SNP A A G TCGA-12-5295-01A-01D-1486-08 TCGA-12-5295-10A-01D-1486-08 g.chr2:220073015A>G c.472A>G c.(472-474)Aca>Gca p.T158A GBMLGG 2 220073159 220073159 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:220073159G>A c.539G>A c.(538-540)cGa>cAa p.R180Q KIPAN 2 220072714 220072714 + Silent SNP C C T TCGA-A4-A57E-01A-11D-A26P-10 TCGA-A4-A57E-10A-01D-A26P-10 g.chr2:220072714C>T c.388C>T c.(388-390)Ctg>Ttg p.L130L KIPAN 2 220072989 220072989 + Missense_Mutation SNP T T C TCGA-A3-3317-01A-01D-0966-08 TCGA-A3-3317-11A-01D-0966-08 g.chr2:220072989T>C c.446T>C c.(445-447)aTc>aCc p.I149T KIPAN 2 220072989 220072989 + Missense_Mutation SNP T T C TCGA-B0-4852-01A-01D-1501-10 TCGA-B0-4852-11A-01D-1501-10 g.chr2:220072989T>C c.446T>C c.(445-447)aTc>aCc p.I149T KIPAN 2 220072989 220072989 + Missense_Mutation SNP T T G TCGA-BQ-5881-01A-11D-1589-08 TCGA-BQ-5881-11A-01D-1589-08 g.chr2:220072989T>G c.446T>G c.(445-447)aTc>aGc p.I149S KIPAN 2 220072990 220072990 + Silent SNP C C A TCGA-CJ-5672-01A-11D-1534-10 TCGA-CJ-5672-11A-01D-1534-10 g.chr2:220072990C>A c.447C>A c.(445-447)atC>atA p.I149I KIPAN 2 220073018 220073018 + Missense_Mutation SNP A A G TCGA-CJ-5677-01A-11D-1534-10 TCGA-CJ-5677-11A-01D-1534-10 g.chr2:220073018A>G c.475A>G c.(475-477)Agc>Ggc p.S159G KIPAN 2 220073738 220073738 + Silent SNP G G A TCGA-BP-4999-01A-01D-1462-08 TCGA-BP-4999-11A-01D-1462-08 g.chr2:220073738G>A c.696G>A c.(694-696)ctG>ctA p.L232L KIRC 2 220072989 220072989 + Missense_Mutation SNP T T C TCGA-A3-3317-01A-01D-0966-08 TCGA-A3-3317-11A-01D-0966-08 g.chr2:220072989T>C c.446T>C c.(445-447)aTc>aCc p.I149T KIRC 2 220072989 220072989 + Missense_Mutation SNP T T C TCGA-B0-4852-01A-01D-1501-10 TCGA-B0-4852-11A-01D-1501-10 g.chr2:220072989T>C c.446T>C c.(445-447)aTc>aCc p.I149T KIRC 2 220072990 220072990 + Silent SNP C C A TCGA-CJ-5672-01A-11D-1534-10 TCGA-CJ-5672-11A-01D-1534-10 g.chr2:220072990C>A c.447C>A c.(445-447)atC>atA p.I149I KIRC 2 220073018 220073018 + Missense_Mutation SNP A A G TCGA-CJ-5677-01A-11D-1534-10 TCGA-CJ-5677-11A-01D-1534-10 g.chr2:220073018A>G c.475A>G c.(475-477)Agc>Ggc p.S159G KIRC 2 220073738 220073738 + Silent SNP G G A TCGA-BP-4999-01A-01D-1462-08 TCGA-BP-4999-11A-01D-1462-08 g.chr2:220073738G>A c.696G>A c.(694-696)ctG>ctA p.L232L KIRP 2 220072714 220072714 + Silent SNP C C T TCGA-A4-A57E-01A-11D-A26P-10 TCGA-A4-A57E-10A-01D-A26P-10 g.chr2:220072714C>T c.388C>T c.(388-390)Ctg>Ttg p.L130L KIRP 2 220072989 220072989 + Missense_Mutation SNP T T G TCGA-BQ-5881-01A-11D-1589-08 TCGA-BQ-5881-11A-01D-1589-08 g.chr2:220072989T>G c.446T>G c.(445-447)aTc>aGc p.I149S LGG 2 220072487 220072487 + Missense_Mutation SNP C C G TCGA-HT-7604-01A-11D-2086-08 TCGA-HT-7604-10A-01D-2086-08 g.chr2:220072487C>G c.268C>G c.(268-270)Cag>Gag p.Q90E LGG 2 220073159 220073159 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr2:220073159G>A c.539G>A c.(538-540)cGa>cAa p.R180Q LIHC 2 220073041 220073041 + Silent SNP A A G TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr2:220073041A>G c.498A>G c.(496-498)caA>caG p.Q166Q LUAD 2 220072490 220072490 + Missense_Mutation SNP C C G TCGA-MP-A4TF-01A-11D-A25L-08 TCGA-MP-A4TF-10A-01D-A25L-08 g.chr2:220072490C>G c.271C>G c.(271-273)Caa>Gaa p.Q91E LUAD 2 220072627 220072627 + Nonsense_Mutation SNP G G T TCGA-95-8494-01A-11D-2323-08 TCGA-95-8494-10A-01D-2323-08 g.chr2:220072627G>T c.301G>T c.(301-303)Gaa>Taa p.E101* LUAD 2 220073185 220073185 + Missense_Mutation SNP G G A TCGA-64-1676-01A-01D-0969-08 TCGA-64-1676-10A-01D-0969-08 g.chr2:220073185G>A c.565G>A c.(565-567)Gtg>Atg p.V189M LUSC 2 220072369 220072369 + Splice_Site SNP G G T TCGA-18-3407-01A-01D-0983-08 TCGA-18-3407-11A-01D-0983-08 g.chr2:220072369G>T c.e3-1 READ 2 220072092 220072092 + Silent SNP C C T TCGA-DY-A0XA-01A-11D-A152-10 TCGA-DY-A0XA-10A-01D-A152-10 g.chr2:220072092C>T c.99C>T c.(97-99)tgC>tgT p.C33C

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 220072999 220072999 single base substitution A C 3_prime_UTR_variant BLCA-CN 2 220072999 220072999 single base substitution A C downstream_gene_variant BLCA-CN 2 220072999 220072999 single base substitution A C exon_variant BLCA-CN 2 220072999 220072999 single base substitution A C synonymous_variant A152A 456A>C BLCA-CN 2 220072999 220072999 single base substitution A C upstream_gene_variant BLCA-US 2 220075494 220075494 single base substitution T C downstream_gene_variant BLCA-US 2 220077977 220077977 single base substitution G A downstream_gene_variant BOCA-FR 2 220078388 220078388 single base substitution C G downstream_gene_variant BRCA-EU 2 220056907 220056907 single base substitution G A upstream_gene_variant BRCA-EU 2 220057069 220057069 single base substitution G A upstream_gene_variant BRCA-EU 2 220057939 220057939 single base substitution G C upstream_gene_variant BRCA-EU 2 220059627 220059627 single base substitution A G upstream_gene_variant BRCA-EU 2 220059880 220059880 single base substitution G A upstream_gene_variant BRCA-EU 2 220060710 220060710 single base substitution C T intron_variant BRCA-EU 2 220062397 220062397 insertion of <=200bp - T intron_variant BRCA-EU 2 220062620 220062620 single base substitution G T intron_variant BRCA-EU 2 220063151 220063151 single base substitution G A intron_variant BRCA-EU 2 220064040 220064040 single base substitution C T intron_variant BRCA-EU 2 220065391 220065391 single base substitution G A intron_variant BRCA-EU 2 220066382 220066382 single base substitution C G intron_variant BRCA-EU 2 220067322 220067322 single base substitution C A intron_variant BRCA-EU 2 220067322 220067322 single base substitution C A upstream_gene_variant BRCA-EU 2 220067412 220067412 single base substitution C T intron_variant BRCA-EU 2 220067412 220067412 single base substitution C T upstream_gene_variant BRCA-EU 2 220067733 220067733 single base substitution C G intron_variant BRCA-EU 2 220067733 220067733 single base substitution C G upstream_gene_variant BRCA-EU 2 220067985 220067985 single base substitution C T intron_variant BRCA-EU 2 220067985 220067985 single base substitution C T upstream_gene_variant BRCA-EU 2 220068137 220068137 single base substitution G T intron_variant BRCA-EU 2 220068137 220068137 single base substitution G T upstream_gene_variant BRCA-EU 2 220068264 220068264 single base substitution C T intron_variant BRCA-EU 2 220068264 220068264 single base substitution C T upstream_gene_variant BRCA-EU 2 220068270 220068270 single base substitution G C intron_variant BRCA-EU 2 220068270 220068270 single base substitution G C upstream_gene_variant BRCA-EU 2 220069382 220069382 single base substitution T G intron_variant BRCA-EU 2 220069382 220069382 single base substitution T G upstream_gene_variant BRCA-EU 2 220069732 220069732 single base substitution C T intron_variant BRCA-EU 2 220069732 220069732 single base substitution C T upstream_gene_variant BRCA-EU 2 220070231 220070231 single base substitution G T intron_variant BRCA-EU 2 220070231 220070231 single base substitution G T upstream_gene_variant BRCA-EU 2 220072268 220072268 insertion of <=200bp - T downstream_gene_variant BRCA-EU 2 220072268 220072268 insertion of <=200bp - T exon_variant BRCA-EU 2 220072268 220072268 insertion of <=200bp - T intron_variant BRCA-EU 2 220072268 220072268 insertion of <=200bp - T upstream_gene_variant BRCA-EU 2 220072836 220072836 single base substitution T C 3_prime_UTR_variant BRCA-EU 2 220072836 220072836 single base substitution T C downstream_gene_variant BRCA-EU 2 220072836 220072836 single base substitution T C intron_variant BRCA-EU 2 220072836 220072836 single base substitution T C upstream_gene_variant BRCA-EU 2 220072959 220072959 single base substitution A C 3_prime_UTR_variant BRCA-EU 2 220072959 220072959 single base substitution A C downstream_gene_variant BRCA-EU 2 220072959 220072959 single base substitution A C intron_variant BRCA-EU 2 220072959 220072959 single base substitution A C upstream_gene_variant BRCA-EU 2 220074522 220074522 single base substitution G C downstream_gene_variant BRCA-EU 2 220074982 220074982 single base substitution A G downstream_gene_variant BRCA-EU 2 220075451 220075451 single base substitution G C downstream_gene_variant BRCA-EU 2 220075504 220075504 single base substitution C T downstream_gene_variant BRCA-EU 2 220075985 220075985 single base substitution C G downstream_gene_variant BRCA-EU 2 220077008 220077008 insertion of <=200bp - T downstream_gene_variant BRCA-EU 2 220077254 220077254 deletion of <=200bp T - downstream_gene_variant BRCA-EU 2 220078420 220078420 single base substitution G A downstream_gene_variant BRCA-EU 2 220078659 220078659 single base substitution C T downstream_gene_variant BRCA-FR 2 220064040 220064040 single base substitution C T intron_variant BRCA-FR 2 220066183 220066183 single base substitution G C intron_variant BRCA-FR 2 220067322 220067322 single base substitution C A intron_variant BRCA-FR 2 220067322 220067322 single base substitution C A upstream_gene_variant BRCA-FR 2 220067412 220067412 single base substitution C T intron_variant BRCA-FR 2 220067412 220067412 single base substitution C T upstream_gene_variant BRCA-UK 2 220057069 220057069 single base substitution G A upstream_gene_variant BRCA-UK 2 220078659 220078659 single base substitution C T downstream_gene_variant BRCA-US 2 220072393 220072393 single base substitution T C downstream_gene_variant BRCA-US 2 220072393 220072393 single base substitution T C exon_variant BRCA-US 2 220072393 220072393 single base substitution T C intron_variant BRCA-US 2 220072393 220072393 single base substitution T C synonymous_variant P58P 174T>C BRCA-US 2 220072393 220072393 single base substitution T C upstream_gene_variant BRCA-US 2 220073995 220073995 single base substitution C T 3_prime_UTR_variant BRCA-US 2 220073995 220073995 single base substitution C T downstream_gene_variant BRCA-US 2 220073995 220073995 single base substitution C T exon_variant BRCA-US 2 220073995 220073995 single base substitution C T missense_variant A36V 107C>T BRCA-US 2 220073995 220073995 single base substitution C T synonymous_variant R247R 741C>T BRCA-US 2 220075710 220075710 single base substitution C T downstream_gene_variant BRCA-US 2 220077977 220077977 single base substitution G A downstream_gene_variant BRCA-US 2 220078588 220078588 single base substitution G C downstream_gene_variant BRCA-US 2 220078881 220078881 single base substitution C T downstream_gene_variant BTCA-JP 2 220072268 220072268 insertion of <=200bp - T downstream_gene_variant BTCA-JP 2 220072268 220072268 insertion of <=200bp - T exon_variant BTCA-JP 2 220072268 220072268 insertion of <=200bp - T intron_variant BTCA-JP 2 220072268 220072268 insertion of <=200bp - T upstream_gene_variant BTCA-JP 2 220074591 220074591 single base substitution G A downstream_gene_variant BTCA-JP 2 220075203 220075203 single base substitution G C downstream_gene_variant BTCA-JP 2 220078184 220078184 single base substitution C G downstream_gene_variant BTCA-JP 2 220078849 220078849 single base substitution T C downstream_gene_variant CESC-US 2 220072422 220072422 single base substitution G T downstream_gene_variant CESC-US 2 220072422 220072422 single base substitution G T exon_variant CESC-US 2 220072422 220072422 single base substitution G T intron_variant CESC-US 2 220072422 220072422 single base substitution G T missense_variant R68I 203G>T CESC-US 2 220072422 220072422 single base substitution G T upstream_gene_variant CESC-US 2 220075187 220075187 single base substitution G A downstream_gene_variant CLLE-ES 2 220064545 220064545 single base substitution C A intron_variant CLLE-ES 2 220076063 220076063 single base substitution T A downstream_gene_variant COAD-US 2 220072431 220072431 single base substitution C A downstream_gene_variant COAD-US 2 220072431 220072431 single base substitution C A exon_variant COAD-US 2 220072431 220072431 single base substitution C A intron_variant COAD-US 2 220072431 220072431 single base substitution C A missense_variant P71H 212C>A COAD-US 2 220072431 220072431 single base substitution C A upstream_gene_variant COAD-US 2 220072683 220072683 single base substitution C T 3_prime_UTR_variant COAD-US 2 220072683 220072683 single base substitution C T downstream_gene_variant COAD-US 2 220072683 220072683 single base substitution C T exon_variant COAD-US 2 220072683 220072683 single base substitution C T intron_variant COAD-US 2 220072683 220072683 single base substitution C T synonymous_variant S119S 357C>T COAD-US 2 220072683 220072683 single base substitution C T upstream_gene_variant COAD-US 2 220073735 220073735 single base substitution A T 3_prime_UTR_variant COAD-US 2 220073735 220073735 single base substitution A T downstream_gene_variant COAD-US 2 220073735 220073735 single base substitution A T exon_variant COAD-US 2 220073735 220073735 single base substitution A T intron_variant COAD-US 2 220073735 220073735 single base substitution A T synonymous_variant A231A 693A>T COAD-US 2 220074006 220074006 single base substitution C T 3_prime_UTR_variant COAD-US 2 220074006 220074006 single base substitution C T downstream_gene_variant COAD-US 2 220074006 220074006 single base substitution C T exon_variant COAD-US 2 220074006 220074006 single base substitution C T missense_variant P251L 752C>T COAD-US 2 220074006 220074006 single base substitution C T missense_variant R40C 118C>T COAD-US 2 220075487 220075487 single base substitution G A downstream_gene_variant COAD-US 2 220079111 220079111 single base substitution C T downstream_gene_variant COCA-CN 2 220071673 220071673 single base substitution T G 5_prime_UTR_variant COCA-CN 2 220071673 220071673 single base substitution T G exon_variant COCA-CN 2 220071673 220071673 single base substitution T G intron_variant COCA-CN 2 220071673 220071673 single base substitution T G upstream_gene_variant COCA-CN 2 220072396 220072396 single base substitution C T downstream_gene_variant COCA-CN 2 220072396 220072396 single base substitution C T exon_variant COCA-CN 2 220072396 220072396 single base substitution C T intron_variant COCA-CN 2 220072396 220072396 single base substitution C T synonymous_variant L59L 177C>T COCA-CN 2 220072396 220072396 single base substitution C T upstream_gene_variant COCA-CN 2 220072982 220072982 single base substitution G A 3_prime_UTR_variant COCA-CN 2 220072982 220072982 single base substitution G A downstream_gene_variant COCA-CN 2 220072982 220072982 single base substitution G A exon_variant COCA-CN 2 220072982 220072982 single base substitution G A missense_variant A147T 439G>A COCA-CN 2 220072982 220072982 single base substitution G A upstream_gene_variant COCA-CN 2 220075612 220075612 single base substitution C T downstream_gene_variant COCA-CN 2 220075671 220075671 single base substitution T C downstream_gene_variant EOPC-DE 2 220058770 220058770 single base substitution C T upstream_gene_variant EOPC-DE 2 220061099 220061099 single base substitution T G intron_variant ESAD-UK 2 220058241 220058241 single base substitution T G upstream_gene_variant ESAD-UK 2 220058684 220058684 single base substitution G A upstream_gene_variant ESAD-UK 2 220058749 220058749 single base substitution A C upstream_gene_variant ESAD-UK 2 220059068 220059068 single base substitution T G upstream_gene_variant ESAD-UK 2 220059933 220059933 single base substitution G A upstream_gene_variant ESAD-UK 2 220061043 220061043 single base substitution T G intron_variant ESAD-UK 2 220061358 220061358 single base substitution T C intron_variant ESAD-UK 2 220061541 220061541 single base substitution C T intron_variant ESAD-UK 2 220063699 220063699 single base substitution G A intron_variant ESAD-UK 2 220065372 220065372 deletion of <=200bp T - splice_region_variant ESAD-UK 2 220066293 220066293 single base substitution C T intron_variant ESAD-UK 2 220066497 220066497 single base substitution G A intron_variant ESAD-UK 2 220067685 220067685 single base substitution A T intron_variant ESAD-UK 2 220067685 220067685 single base substitution A T upstream_gene_variant ESAD-UK 2 220068273 220068273 single base substitution A G intron_variant ESAD-UK 2 220068273 220068273 single base substitution A G upstream_gene_variant ESAD-UK 2 220070680 220070680 single base substitution C T intron_variant ESAD-UK 2 220070680 220070680 single base substitution C T upstream_gene_variant ESAD-UK 2 220072042 220072043 deletion of <=200bp TT - exon_variant ESAD-UK 2 220072042 220072043 deletion of <=200bp TT - intron_variant ESAD-UK 2 220072042 220072043 deletion of <=200bp TT - splice_region_variant ESAD-UK 2 220072042 220072043 deletion of <=200bp TT - upstream_gene_variant ESAD-UK 2 220074137 220074137 single base substitution G A 3_prime_UTR_variant ESAD-UK 2 220074137 220074137 single base substitution G A downstream_gene_variant ESAD-UK 2 220074137 220074137 single base substitution G A exon_variant ESAD-UK 2 220074137 220074137 single base substitution G A synonymous_variant A83A 249G>A ESAD-UK 2 220075191 220075191 single base substitution A G downstream_gene_variant ESAD-UK 2 220078269 220078269 single base substitution T C downstream_gene_variant ESCA-CN 2 220071828 220071828 single base substitution A G exon_variant ESCA-CN 2 220071828 220071828 single base substitution A G intron_variant ESCA-CN 2 220071828 220071828 single base substitution A G upstream_gene_variant ESCA-CN 2 220074986 220074986 single base substitution C T downstream_gene_variant ESCA-CN 2 220078595 220078595 single base substitution C T downstream_gene_variant ESCA-CN 2 220078860 220078860 single base substitution C G downstream_gene_variant ESCA-CN 2 220079117 220079117 single base substitution G A downstream_gene_variant GACA-CN 2 220073315 220073315 single base substitution C T 3_prime_UTR_variant GACA-CN 2 220073315 220073315 single base substitution C T downstream_gene_variant GACA-CN 2 220073315 220073315 single base substitution C T exon_variant GACA-CN 2 220073315 220073315 single base substitution C T missense_variant R17W 49C>T GACA-CN 2 220073315 220073315 single base substitution C T missense_variant R204W 610C>T GBM-US 2 220073015 220073015 single base substitution A G 3_prime_UTR_variant GBM-US 2 220073015 220073015 single base substitution A G downstream_gene_variant GBM-US 2 220073015 220073015 single base substitution A G exon_variant GBM-US 2 220073015 220073015 single base substitution A G missense_variant T158A 472A>G GBM-US 2 220073015 220073015 single base substitution A G upstream_gene_variant KIRC-US 2 220072989 220072989 single base substitution T C 3_prime_UTR_variant KIRC-US 2 220072989 220072989 single base substitution T C downstream_gene_variant KIRC-US 2 220072989 220072989 single base substitution T C exon_variant KIRC-US 2 220072989 220072989 single base substitution T C missense_variant I149T 446T>C KIRC-US 2 220072989 220072989 single base substitution T C upstream_gene_variant KIRC-US 2 220072990 220072990 single base substitution C A 3_prime_UTR_variant KIRC-US 2 220072990 220072990 single base substitution C A downstream_gene_variant KIRC-US 2 220072990 220072990 single base substitution C A exon_variant KIRC-US 2 220072990 220072990 single base substitution C A synonymous_variant I149I 447C>A KIRC-US 2 220072990 220072990 single base substitution C A upstream_gene_variant KIRC-US 2 220073018 220073018 single base substitution A G 3_prime_UTR_variant KIRC-US 2 220073018 220073018 single base substitution A G downstream_gene_variant KIRC-US 2 220073018 220073018 single base substitution A G exon_variant KIRC-US 2 220073018 220073018 single base substitution A G missense_variant S159G 475A>G KIRC-US 2 220073018 220073018 single base substitution A G upstream_gene_variant KIRC-US 2 220073738 220073738 single base substitution G A 3_prime_UTR_variant KIRC-US 2 220073738 220073738 single base substitution G A downstream_gene_variant KIRC-US 2 220073738 220073738 single base substitution G A exon_variant KIRC-US 2 220073738 220073738 single base substitution G A intron_variant KIRC-US 2 220073738 220073738 single base substitution G A synonymous_variant L232L 696G>A KIRC-US 2 220075156 220075156 single base substitution C T downstream_gene_variant KIRC-US 2 220075171 220075171 single base substitution A C downstream_gene_variant KIRC-US 2 220075789 220075789 single base substitution G C downstream_gene_variant KIRP-US 2 220072714 220072714 single base substitution C T 3_prime_UTR_variant KIRP-US 2 220072714 220072714 single base substitution C T downstream_gene_variant KIRP-US 2 220072714 220072714 single base substitution C T exon_variant KIRP-US 2 220072714 220072714 single base substitution C T intron_variant KIRP-US 2 220072714 220072714 single base substitution C T synonymous_variant L130L 388C>T KIRP-US 2 220072714 220072714 single base substitution C T upstream_gene_variant KIRP-US 2 220072989 220072989 single base substitution T G 3_prime_UTR_variant KIRP-US 2 220072989 220072989 single base substitution T G downstream_gene_variant KIRP-US 2 220072989 220072989 single base substitution T G exon_variant KIRP-US 2 220072989 220072989 single base substitution T G missense_variant I149S 446T>G KIRP-US 2 220072989 220072989 single base substitution T G upstream_gene_variant KIRP-US 2 220074990 220074990 single base substitution G A downstream_gene_variant KIRP-US 2 220075010 220075010 single base substitution C A downstream_gene_variant KIRP-US 2 220075011 220075011 single base substitution A G downstream_gene_variant KIRP-US 2 220075814 220075814 single base substitution A G downstream_gene_variant LAML-KR 2 220070620 220070620 single base substitution C T intron_variant LAML-KR 2 220070620 220070620 single base substitution C T upstream_gene_variant LGG-US 2 220072487 220072487 single base substitution C G downstream_gene_variant LGG-US 2 220072487 220072487 single base substitution C G exon_variant LGG-US 2 220072487 220072487 single base substitution C G intron_variant LGG-US 2 220072487 220072487 single base substitution C G missense_variant Q90E 268C>G LGG-US 2 220072487 220072487 single base substitution C G upstream_gene_variant LICA-FR 2 220061418 220061418 single base substitution C G intron_variant LIHC-US 2 220075719 220075719 single base substitution C A downstream_gene_variant LINC-JP 2 220072097 220072097 single base substitution A G exon_variant LINC-JP 2 220072097 220072097 single base substitution A G missense_variant D35G 104A>G LINC-JP 2 220072097 220072097 single base substitution A G upstream_gene_variant LINC-JP 2 220072271 220072271 single base substitution T G downstream_gene_variant LINC-JP 2 220072271 220072271 single base substitution T G exon_variant LINC-JP 2 220072271 220072271 single base substitution T G intron_variant LINC-JP 2 220072271 220072271 single base substitution T G upstream_gene_variant LINC-JP 2 220072957 220072957 deletion of <=200bp A - 3_prime_UTR_variant LINC-JP 2 220072957 220072957 deletion of <=200bp A - downstream_gene_variant LINC-JP 2 220072957 220072957 deletion of <=200bp A - intron_variant LINC-JP 2 220072957 220072957 deletion of <=200bp A - upstream_gene_variant LINC-JP 2 220073241 220073241 insertion of <=200bp - AAACACACAGAGAGTGA 3_prime_UTR_variant LINC-JP 2 220073241 220073241 insertion of <=200bp - AAACACACAGAGAGTGA downstream_gene_variant LINC-JP 2 220073241 220073241 insertion of <=200bp - AAACACACAGAGAGTGA frameshift_variant T207TNTQRV? LINC-JP 2 220073241 220073241 insertion of <=200bp - AAACACACAGAGAGTGA intron_variant LINC-JP 2 220073249 220073249 single base substitution A T 3_prime_UTR_variant LINC-JP 2 220073249 220073249 single base substitution A T downstream_gene_variant LINC-JP 2 220073249 220073249 single base substitution A T intron_variant LINC-JP 2 220073249 220073249 single base substitution A T missense_variant Q210L 629A>T LINC-JP 2 220074261 220074261 single base substitution C G 3_prime_UTR_variant LINC-JP 2 220074261 220074261 single base substitution C G downstream_gene_variant LINC-JP 2 220074261 220074261 single base substitution C G exon_variant LINC-JP 2 220074261 220074261 single base substitution C G missense_variant L125V 373C>G LINC-JP 2 220075047 220075047 single base substitution C A downstream_gene_variant LINC-JP 2 220075901 220075901 single base substitution C T downstream_gene_variant LINC-JP 2 220078168 220078204 deletion of <=200bp TCCTCTTTCAGCAAGTCAAACATGTTCTCCATGTCAA - downstream_gene_variant LIRI-JP 2 220055567 220055567 single base substitution C A upstream_gene_variant LIRI-JP 2 220059969 220059969 single base substitution C T 5_prime_UTR_variant LIRI-JP 2 220064085 220064085 single base substitution G T intron_variant LIRI-JP 2 220064273 220064273 single base substitution C T intron_variant LIRI-JP 2 220064463 220064463 single base substitution G A intron_variant LIRI-JP 2 220065120 220065120 single base substitution A G intron_variant LIRI-JP 2 220071316 220071316 single base substitution T C intron_variant LIRI-JP 2 220071316 220071316 single base substitution T C upstream_gene_variant LIRI-JP 2 220072881 220072881 single base substitution C T 3_prime_UTR_variant LIRI-JP 2 220072881 220072881 single base substitution C T downstream_gene_variant LIRI-JP 2 220072881 220072881 single base substitution C T intron_variant LIRI-JP 2 220072881 220072881 single base substitution C T upstream_gene_variant LIRI-JP 2 220072927 220072942 deletion of <=200bp CTGGGTAAGGCTAGTT - 3_prime_UTR_variant LIRI-JP 2 220072927 220072942 deletion of <=200bp CTGGGTAAGGCTAGTT - downstream_gene_variant LIRI-JP 2 220072927 220072942 deletion of <=200bp CTGGGTAAGGCTAGTT - intron_variant LIRI-JP 2 220072927 220072942 deletion of <=200bp CTGGGTAAGGCTAGTT - upstream_gene_variant LIRI-JP 2 220072961 220072961 single base substitution A C 3_prime_UTR_variant LIRI-JP 2 220072961 220072961 single base substitution A C downstream_gene_variant LIRI-JP 2 220072961 220072961 single base substitution A C intron_variant LIRI-JP 2 220072961 220072961 single base substitution A C upstream_gene_variant LIRI-JP 2 220073566 220073566 single base substitution A G 3_prime_UTR_variant LIRI-JP 2 220073566 220073566 single base substitution A G downstream_gene_variant LIRI-JP 2 220073566 220073566 single base substitution A G exon_variant LIRI-JP 2 220073566 220073566 single base substitution A G intron_variant LIRI-JP 2 220073854 220073854 insertion of <=200bp - T 3_prime_UTR_variant LIRI-JP 2 220073854 220073854 insertion of <=200bp - T downstream_gene_variant LIRI-JP 2 220073854 220073854 insertion of <=200bp - T exon_variant LIRI-JP 2 220073854 220073854 insertion of <=200bp - T intron_variant LIRI-JP 2 220074647 220074647 single base substitution G C downstream_gene_variant LIRI-JP 2 220075451 220075451 single base substitution G A downstream_gene_variant LUSC-KR 2 220062455 220062455 single base substitution C G intron_variant LUSC-KR 2 220068898 220068898 single base substitution T G intron_variant LUSC-KR 2 220068898 220068898 single base substitution T G upstream_gene_variant LUSC-KR 2 220068899 220068899 single base substitution G T intron_variant LUSC-KR 2 220068899 220068899 single base substitution G T upstream_gene_variant LUSC-KR 2 220069774 220069774 single base substitution G T intron_variant LUSC-KR 2 220069774 220069774 single base substitution G T upstream_gene_variant LUSC-KR 2 220071188 220071188 single base substitution G T intron_variant LUSC-KR 2 220071188 220071188 single base substitution G T upstream_gene_variant LUSC-US 2 220072369 220072369 single base substitution G T downstream_gene_variant LUSC-US 2 220072369 220072369 single base substitution G T exon_variant LUSC-US 2 220072369 220072369 single base substitution G T intron_variant LUSC-US 2 220072369 220072369 single base substitution G T splice_acceptor_variant LUSC-US 2 220072369 220072369 single base substitution G T upstream_gene_variant LUSC-US 2 220075486 220075486 single base substitution C T downstream_gene_variant LUSC-US 2 220077986 220077986 single base substitution G A downstream_gene_variant LUSC-US 2 220078648 220078648 single base substitution G A downstream_gene_variant MALY-DE 2 220059596 220059596 single base substitution A T upstream_gene_variant MALY-DE 2 220062396 220062396 single base substitution G T intron_variant MALY-DE 2 220064097 220064097 single base substitution G A intron_variant MALY-DE 2 220065984 220065984 single base substitution C T intron_variant MALY-DE 2 220073143 220073143 single base substitution C T 3_prime_UTR_variant MALY-DE 2 220073143 220073143 single base substitution C T downstream_gene_variant MALY-DE 2 220073143 220073143 single base substitution C T exon_variant MALY-DE 2 220073143 220073143 single base substitution C T intron_variant MALY-DE 2 220073143 220073143 single base substitution C T splice_region_variant MALY-DE 2 220073143 220073143 single base substitution C T upstream_gene_variant MALY-DE 2 220073802 220073802 single base substitution A G 3_prime_UTR_variant MALY-DE 2 220073802 220073802 single base substitution A G downstream_gene_variant MALY-DE 2 220073802 220073802 single base substitution A G exon_variant MALY-DE 2 220073802 220073802 single base substitution A G intron_variant MALY-DE 2 220078959 220078959 single base substitution C T downstream_gene_variant MELA-AU 2 220056264 220056264 single base substitution G A upstream_gene_variant MELA-AU 2 220056403 220056403 single base substitution A G upstream_gene_variant MELA-AU 2 220056491 220056491 single base substitution C T upstream_gene_variant MELA-AU 2 220056661 220056661 single base substitution C T upstream_gene_variant MELA-AU 2 220056665 220056665 single base substitution C G upstream_gene_variant MELA-AU 2 220056716 220056716 single base substitution T C upstream_gene_variant MELA-AU 2 220056754 220056754 single base substitution C T upstream_gene_variant MELA-AU 2 220056787 220056787 single base substitution C T upstream_gene_variant MELA-AU 2 220056791 220056791 single base substitution A C upstream_gene_variant MELA-AU 2 220056823 220056823 single base substitution G A upstream_gene_variant MELA-AU 2 220057884 220057884 single base substitution G A upstream_gene_variant MELA-AU 2 220058425 220058425 single base substitution G A upstream_gene_variant MELA-AU 2 220058507 220058507 single base substitution G A upstream_gene_variant MELA-AU 2 220058666 220058666 single base substitution G A upstream_gene_variant MELA-AU 2 220058813 220058813 single base substitution T C upstream_gene_variant MELA-AU 2 220059330 220059330 single base substitution C T upstream_gene_variant MELA-AU 2 220060082 220060082 single base substitution G A 5_prime_UTR_variant MELA-AU 2 220060254 220060254 single base substitution C T intron_variant MELA-AU 2 220060909 220060909 single base substitution G A intron_variant MELA-AU 2 220061237 220061237 single base substitution C T intron_variant MELA-AU 2 220061289 220061289 single base substitution C T intron_variant MELA-AU 2 220061444 220061444 single base substitution C T intron_variant MELA-AU 2 220061589 220061589 single base substitution G C intron_variant MELA-AU 2 220061609 220061609 single base substitution C T intron_variant MELA-AU 2 220061641 220061641 single base substitution C T intron_variant MELA-AU 2 220061930 220061930 single base substitution C T intron_variant MELA-AU 2 220062006 220062006 single base substitution G A intron_variant MELA-AU 2 220062188 220062188 single base substitution T A intron_variant MELA-AU 2 220062304 220062304 single base substitution C T intron_variant MELA-AU 2 220063460 220063460 single base substitution C T intron_variant MELA-AU 2 220064095 220064095 single base substitution C T intron_variant MELA-AU 2 220064194 220064194 single base substitution C T intron_variant MELA-AU 2 220064342 220064342 single base substitution G A intron_variant MELA-AU 2 220064475 220064475 single base substitution C T intron_variant MELA-AU 2 220065176 220065176 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 2 220065309 220065309 single base substitution C T 5_prime_UTR_variant MELA-AU 2 220066192 220066192 single base substitution G A intron_variant MELA-AU 2 220066233 220066233 single base substitution G A intron_variant MELA-AU 2 220066372 220066372 single base substitution C T intron_variant MELA-AU 2 220066568 220066568 single base substitution C T intron_variant MELA-AU 2 220066568 220066568 single base substitution C T upstream_gene_variant MELA-AU 2 220066762 220066762 single base substitution C T intron_variant MELA-AU 2 220066762 220066762 single base substitution C T upstream_gene_variant MELA-AU 2 220066996 220066996 single base substitution C T intron_variant MELA-AU 2 220066996 220066996 single base substitution C T upstream_gene_variant MELA-AU 2 220067398 220067399 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 220067398 220067399 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 220067465 220067465 single base substitution G A intron_variant MELA-AU 2 220067465 220067465 single base substitution G A upstream_gene_variant MELA-AU 2 220067466 220067466 single base substitution G A intron_variant MELA-AU 2 220067466 220067466 single base substitution G A upstream_gene_variant MELA-AU 2 220067749 220067749 single base substitution C T intron_variant MELA-AU 2 220067749 220067749 single base substitution C T upstream_gene_variant MELA-AU 2 220067777 220067777 single base substitution G A intron_variant MELA-AU 2 220067777 220067777 single base substitution G A upstream_gene_variant MELA-AU 2 220068015 220068015 single base substitution C T intron_variant MELA-AU 2 220068015 220068015 single base substitution C T upstream_gene_variant MELA-AU 2 220068177 220068177 single base substitution C T intron_variant MELA-AU 2 220068177 220068177 single base substitution C T upstream_gene_variant MELA-AU 2 220068366 220068366 single base substitution T A intron_variant MELA-AU 2 220068366 220068366 single base substitution T A upstream_gene_variant MELA-AU 2 220068598 220068598 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 2 220068598 220068598 single base substitution G A upstream_gene_variant MELA-AU 2 220069223 220069223 single base substitution T G intron_variant MELA-AU 2 220069223 220069223 single base substitution T G upstream_gene_variant MELA-AU 2 220069330 220069330 single base substitution C T intron_variant MELA-AU 2 220069330 220069330 single base substitution C T upstream_gene_variant MELA-AU 2 220069340 220069340 single base substitution C T intron_variant MELA-AU 2 220069340 220069340 single base substitution C T upstream_gene_variant MELA-AU 2 220069443 220069443 single base substitution C T intron_variant MELA-AU 2 220069443 220069443 single base substitution C T upstream_gene_variant MELA-AU 2 220069771 220069771 single base substitution G A intron_variant MELA-AU 2 220069771 220069771 single base substitution G A upstream_gene_variant MELA-AU 2 220070404 220070404 single base substitution G A intron_variant MELA-AU 2 220070404 220070404 single base substitution G A upstream_gene_variant MELA-AU 2 220070713 220070713 single base substitution C T intron_variant MELA-AU 2 220070713 220070713 single base substitution C T upstream_gene_variant MELA-AU 2 220071264 220071264 single base substitution G A intron_variant MELA-AU 2 220071264 220071264 single base substitution G A upstream_gene_variant MELA-AU 2 220071496 220071496 single base substitution G A intron_variant MELA-AU 2 220071496 220071496 single base substitution G A upstream_gene_variant MELA-AU 2 220071540 220071540 single base substitution C T 5_prime_UTR_variant MELA-AU 2 220071540 220071540 single base substitution C T exon_variant MELA-AU 2 220071540 220071540 single base substitution C T intron_variant MELA-AU 2 220071540 220071540 single base substitution C T upstream_gene_variant MELA-AU 2 220072332 220072332 single base substitution G A downstream_gene_variant MELA-AU 2 220072332 220072332 single base substitution G A exon_variant MELA-AU 2 220072332 220072332 single base substitution G A intron_variant MELA-AU 2 220072332 220072332 single base substitution G A upstream_gene_variant MELA-AU 2 220072913 220072913 single base substitution C T 3_prime_UTR_variant MELA-AU 2 220072913 220072913 single base substitution C T downstream_gene_variant MELA-AU 2 220072913 220072913 single base substitution C T intron_variant MELA-AU 2 220072913 220072913 single base substitution C T upstream_gene_variant MELA-AU 2 220073568 220073568 single base substitution C T 3_prime_UTR_variant MELA-AU 2 220073568 220073568 single base substitution C T downstream_gene_variant MELA-AU 2 220073568 220073568 single base substitution C T exon_variant MELA-AU 2 220073568 220073568 single base substitution C T intron_variant MELA-AU 2 220073840 220073840 single base substitution C T 3_prime_UTR_variant MELA-AU 2 220073840 220073840 single base substitution C T downstream_gene_variant MELA-AU 2 220073840 220073840 single base substitution C T exon_variant MELA-AU 2 220073840 220073840 single base substitution C T intron_variant MELA-AU 2 220074225 220074225 single base substitution C T 3_prime_UTR_variant MELA-AU 2 220074225 220074225 single base substitution C T downstream_gene_variant MELA-AU 2 220074225 220074225 single base substitution C T exon_variant MELA-AU 2 220074225 220074225 single base substitution C T synonymous_variant L113L 337C>T MELA-AU 2 220074715 220074715 single base substitution T A downstream_gene_variant MELA-AU 2 220074854 220074854 single base substitution G A downstream_gene_variant MELA-AU 2 220075439 220075439 single base substitution C T downstream_gene_variant MELA-AU 2 220075663 220075663 single base substitution G A downstream_gene_variant MELA-AU 2 220076707 220076707 single base substitution G A downstream_gene_variant MELA-AU 2 220076903 220076903 single base substitution G A downstream_gene_variant MELA-AU 2 220076938 220076938 single base substitution C T downstream_gene_variant MELA-AU 2 220077308 220077308 single base substitution G A downstream_gene_variant MELA-AU 2 220077378 220077378 single base substitution G A downstream_gene_variant MELA-AU 2 220077541 220077541 single base substitution G A downstream_gene_variant MELA-AU 2 220077970 220077970 single base substitution C T downstream_gene_variant MELA-AU 2 220078235 220078235 single base substitution G A downstream_gene_variant MELA-AU 2 220078403 220078403 single base substitution G A downstream_gene_variant MELA-AU 2 220078442 220078442 single base substitution C G downstream_gene_variant ORCA-IN 2 220071751 220071751 single base substitution C A exon_variant ORCA-IN 2 220071751 220071751 single base substitution C A missense_variant S14R 42C>A ORCA-IN 2 220071751 220071751 single base substitution C A upstream_gene_variant ORCA-IN 2 220072986 220072986 single base substitution C T 3_prime_UTR_variant ORCA-IN 2 220072986 220072986 single base substitution C T downstream_gene_variant ORCA-IN 2 220072986 220072986 single base substitution C T exon_variant ORCA-IN 2 220072986 220072986 single base substitution C T missense_variant A148V 443C>T ORCA-IN 2 220072986 220072986 single base substitution C T upstream_gene_variant OV-AU 2 220055313 220055313 single base substitution T A upstream_gene_variant OV-AU 2 220060541 220060541 single base substitution A C intron_variant OV-AU 2 220064329 220064329 single base substitution A T intron_variant OV-AU 2 220064520 220064520 single base substitution T A intron_variant OV-AU 2 220071005 220071005 single base substitution T C intron_variant OV-AU 2 220071005 220071005 single base substitution T C upstream_gene_variant OV-AU 2 220071081 220071081 single base substitution A C intron_variant OV-AU 2 220071081 220071081 single base substitution A C upstream_gene_variant OV-AU 2 220071264 220071264 single base substitution G T intron_variant OV-AU 2 220071264 220071264 single base substitution G T upstream_gene_variant PACA-AU 2 220057308 220057308 single base substitution A C upstream_gene_variant PACA-AU 2 220058824 220058824 single base substitution C T upstream_gene_variant PACA-AU 2 220059055 220059055 single base substitution T C upstream_gene_variant PACA-AU 2 220060899 220060899 deletion of <=200bp G - intron_variant PACA-AU 2 220061764 220061764 single base substitution C T intron_variant PACA-AU 2 220063270 220063270 single base substitution G T intron_variant PACA-AU 2 220069455 220069455 single base substitution A G intron_variant PACA-AU 2 220069455 220069455 single base substitution A G upstream_gene_variant PACA-AU 2 220071387 220071387 single base substitution C A intron_variant PACA-AU 2 220071387 220071387 single base substitution C A upstream_gene_variant PACA-AU 2 220072649 220072649 single base substitution G A 3_prime_UTR_variant PACA-AU 2 220072649 220072649 single base substitution G A downstream_gene_variant PACA-AU 2 220072649 220072649 single base substitution G A exon_variant PACA-AU 2 220072649 220072649 single base substitution G A intron_variant PACA-AU 2 220072649 220072649 single base substitution G A missense_variant R108Q 323G>A PACA-AU 2 220072649 220072649 single base substitution G A upstream_gene_variant PACA-AU 2 220074186 220074186 single base substitution G A 3_prime_UTR_variant PACA-AU 2 220074186 220074186 single base substitution G A downstream_gene_variant PACA-AU 2 220074186 220074186 single base substitution G A exon_variant PACA-AU 2 220074186 220074186 single base substitution G A missense_variant A100T 298G>A PACA-AU 2 220078176 220078176 single base substitution C T downstream_gene_variant PACA-AU 2 220079171 220079171 single base substitution C T downstream_gene_variant PACA-CA 2 220057530 220057530 single base substitution C A upstream_gene_variant PACA-CA 2 220057583 220057583 insertion of <=200bp - A upstream_gene_variant PACA-CA 2 220058771 220058771 single base substitution G A upstream_gene_variant PACA-CA 2 220059194 220059194 deletion of <=200bp A - upstream_gene_variant PACA-CA 2 220060751 220060751 single base substitution C T intron_variant PACA-CA 2 220061466 220061466 single base substitution C T intron_variant PACA-CA 2 220065332 220065332 single base substitution G A 5_prime_UTR_variant PACA-CA 2 220065355 220065355 single base substitution G A 5_prime_UTR_variant PACA-CA 2 220066776 220066776 single base substitution A G intron_variant PACA-CA 2 220066776 220066776 single base substitution A G upstream_gene_variant PACA-CA 2 220069133 220069133 single base substitution G C intron_variant PACA-CA 2 220069133 220069133 single base substitution G C upstream_gene_variant PACA-CA 2 220069938 220069951 deletion of <=200bp CTTTGTTTAGTCTG - intron_variant PACA-CA 2 220069938 220069951 deletion of <=200bp CTTTGTTTAGTCTG - upstream_gene_variant PACA-CA 2 220070604 220070604 single base substitution C T intron_variant PACA-CA 2 220070604 220070604 single base substitution C T upstream_gene_variant PACA-CA 2 220071988 220071991 deletion of <=200bp TGAG - exon_variant PACA-CA 2 220071988 220071991 deletion of <=200bp TGAG - intron_variant PACA-CA 2 220071988 220071991 deletion of <=200bp TGAG - upstream_gene_variant PACA-CA 2 220072943 220072943 single base substitution C A 3_prime_UTR_variant PACA-CA 2 220072943 220072943 single base substitution C A downstream_gene_variant PACA-CA 2 220072943 220072943 single base substitution C A intron_variant PACA-CA 2 220072943 220072943 single base substitution C A upstream_gene_variant PACA-CA 2 220074248 220074248 insertion of <=200bp - G 3_prime_UTR_variant PACA-CA 2 220074248 220074248 insertion of <=200bp - G downstream_gene_variant PACA-CA 2 220074248 220074248 insertion of <=200bp - G exon_variant PACA-CA 2 220074248 220074248 insertion of <=200bp - G frameshift_variant A120A? PACA-CA 2 220079228 220079228 single base substitution G C downstream_gene_variant PAEN-AU 2 220058670 220058670 single base substitution T G upstream_gene_variant PBCA-DE 2 220057428 220057428 single base substitution C T upstream_gene_variant PBCA-DE 2 220060041 220060041 single base substitution T G 5_prime_UTR_variant PRAD-CA 2 220058075 220058075 single base substitution A T upstream_gene_variant PRAD-CA 2 220067503 220067503 single base substitution T C intron_variant PRAD-CA 2 220067503 220067503 single base substitution T C upstream_gene_variant PRAD-CA 2 220068047 220068047 single base substitution C T intron_variant PRAD-CA 2 220068047 220068047 single base substitution C T upstream_gene_variant PRAD-CA 2 220075013 220075013 single base substitution T C downstream_gene_variant PRAD-UK 2 220060619 220060619 single base substitution G A intron_variant PRAD-UK 2 220063051 220063051 single base substitution C T intron_variant PRAD-UK 2 220064335 220064335 single base substitution A G intron_variant PRAD-UK 2 220073506 220073506 single base substitution A G 3_prime_UTR_variant PRAD-UK 2 220073506 220073506 single base substitution A G downstream_gene_variant PRAD-UK 2 220073506 220073506 single base substitution A G exon_variant PRAD-UK 2 220073506 220073506 single base substitution A G intron_variant READ-US 2 220072092 220072092 single base substitution C T exon_variant READ-US 2 220072092 220072092 single base substitution C T synonymous_variant C33C 99C>T READ-US 2 220072092 220072092 single base substitution C T upstream_gene_variant READ-US 2 220075187 220075187 single base substitution G A downstream_gene_variant READ-US 2 220077985 220077985 single base substitution C T downstream_gene_variant READ-US 2 220078017 220078017 single base substitution C T downstream_gene_variant RECA-EU 2 220067503 220067503 single base substitution T C intron_variant RECA-EU 2 220067503 220067503 single base substitution T C upstream_gene_variant RECA-EU 2 220071175 220071175 single base substitution A G intron_variant RECA-EU 2 220071175 220071175 single base substitution A G upstream_gene_variant RECA-EU 2 220072962 220072962 single base substitution T C 3_prime_UTR_variant RECA-EU 2 220072962 220072962 single base substitution T C downstream_gene_variant RECA-EU 2 220072962 220072962 single base substitution T C intron_variant RECA-EU 2 220072962 220072962 single base substitution T C upstream_gene_variant SKCA-BR 2 220056066 220056066 single base substitution C T upstream_gene_variant SKCA-BR 2 220058389 220058389 insertion of <=200bp - TC upstream_gene_variant SKCA-BR 2 220058972 220058972 single base substitution C T upstream_gene_variant SKCA-BR 2 220063327 220063327 single base substitution G A intron_variant SKCA-BR 2 220064025 220064025 single base substitution C T intron_variant SKCA-BR 2 220065031 220065031 single base substitution A T intron_variant SKCA-BR 2 220065062 220065062 single base substitution C T intron_variant SKCA-BR 2 220066209 220066209 single base substitution C T intron_variant SKCA-BR 2 220067499 220067499 single base substitution C T intron_variant SKCA-BR 2 220067499 220067499 single base substitution C T upstream_gene_variant SKCA-BR 2 220067502 220067502 insertion of <=200bp - TC intron_variant SKCA-BR 2 220067502 220067502 insertion of <=200bp - TC upstream_gene_variant SKCA-BR 2 220067741 220067741 single base substitution C T intron_variant SKCA-BR 2 220067741 220067741 single base substitution C T upstream_gene_variant SKCA-BR 2 220068300 220068300 single base substitution A G intron_variant SKCA-BR 2 220068300 220068300 single base substitution A G upstream_gene_variant SKCA-BR 2 220071531 220071531 single base substitution G A 5_prime_UTR_variant SKCA-BR 2 220071531 220071531 single base substitution G A exon_variant SKCA-BR 2 220071531 220071531 single base substitution G A intron_variant SKCA-BR 2 220071531 220071531 single base substitution G A upstream_gene_variant SKCA-BR 2 220075497 220075497 single base substitution T C downstream_gene_variant SKCA-BR 2 220077929 220077929 single base substitution C T downstream_gene_variant SKCA-BR 2 220078697 220078697 single base substitution G A downstream_gene_variant SKCM-US 2 220072749 220072749 single base substitution C T 3_prime_UTR_variant SKCM-US 2 220072749 220072749 single base substitution C T downstream_gene_variant SKCM-US 2 220072749 220072749 single base substitution C T exon_variant SKCM-US 2 220072749 220072749 single base substitution C T intron_variant SKCM-US 2 220072749 220072749 single base substitution C T synonymous_variant T141T 423C>T SKCM-US 2 220072749 220072749 single base substitution C T upstream_gene_variant STAD-US 2 220072471 220072471 single base substitution T C downstream_gene_variant STAD-US 2 220072471 220072471 single base substitution T C exon_variant STAD-US 2 220072471 220072471 single base substitution T C intron_variant STAD-US 2 220072471 220072471 single base substitution T C synonymous_variant C84C 252T>C STAD-US 2 220072471 220072471 single base substitution T C upstream_gene_variant STAD-US 2 220073005 220073006 deletion of <=200bp TG - 3_prime_UTR_variant STAD-US 2 220073005 220073006 deletion of <=200bp TG - downstream_gene_variant STAD-US 2 220073005 220073006 deletion of <=200bp TG - exon_variant STAD-US 2 220073005 220073006 deletion of <=200bp TG - frameshift_variant AV154 STAD-US 2 220073005 220073006 deletion of <=200bp TG - upstream_gene_variant STAD-US 2 220074986 220074986 single base substitution C T downstream_gene_variant STAD-US 2 220075526 220075526 single base substitution G A downstream_gene_variant STAD-US 2 220075736 220075736 single base substitution C T downstream_gene_variant STAD-US 2 220075831 220075831 single base substitution C A downstream_gene_variant STAD-US 2 220078187 220078187 single base substitution A G downstream_gene_variant STAD-US 2 220078361 220078361 single base substitution A G downstream_gene_variant THCA-SA 2 220078893 220078893 single base substitution C A downstream_gene_variant UCEC-US 2 220072128 220072128 single base substitution A T exon_variant UCEC-US 2 220072128 220072128 single base substitution A T synonymous_variant G45G 135A>T UCEC-US 2 220072128 220072128 single base substitution A T upstream_gene_variant UCEC-US 2 220072443 220072443 single base substitution C T downstream_gene_variant UCEC-US 2 220072443 220072443 single base substitution C T exon_variant UCEC-US 2 220072443 220072443 single base substitution C T intron_variant UCEC-US 2 220072443 220072443 single base substitution C T missense_variant A75V 224C>T UCEC-US 2 220072443 220072443 single base substitution C T upstream_gene_variant UCEC-US 2 220072619 220072619 single base substitution A G downstream_gene_variant UCEC-US 2 220072619 220072619 single base substitution A G exon_variant UCEC-US 2 220072619 220072619 single base substitution A G intron_variant UCEC-US 2 220072619 220072619 single base substitution A G missense_variant N98S 293A>G UCEC-US 2 220072619 220072619 single base substitution A G upstream_gene_variant UCEC-US 2 220072682 220072682 single base substitution G T 3_prime_UTR_variant UCEC-US 2 220072682 220072682 single base substitution G T downstream_gene_variant UCEC-US 2 220072682 220072682 single base substitution G T exon_variant UCEC-US 2 220072682 220072682 single base substitution G T intron_variant UCEC-US 2 220072682 220072682 single base substitution G T missense_variant S119I 356G>T UCEC-US 2 220072682 220072682 single base substitution G T upstream_gene_variant UCEC-US 2 220072684 220072684 single base substitution C G 3_prime_UTR_variant UCEC-US 2 220072684 220072684 single base substitution C G downstream_gene_variant UCEC-US 2 220072684 220072684 single base substitution C G exon_variant UCEC-US 2 220072684 220072684 single base substitution C G intron_variant UCEC-US 2 220072684 220072684 single base substitution C G missense_variant R120G 358C>G UCEC-US 2 220072684 220072684 single base substitution C G upstream_gene_variant UCEC-US 2 220072755 220072755 single base substitution G A 3_prime_UTR_variant UCEC-US 2 220072755 220072755 single base substitution G A downstream_gene_variant UCEC-US 2 220072755 220072755 single base substitution G A exon_variant UCEC-US 2 220072755 220072755 single base substitution G A intron_variant UCEC-US 2 220072755 220072755 single base substitution G A synonymous_variant R143R 429G>A UCEC-US 2 220072755 220072755 single base substitution G A upstream_gene_variant UCEC-US 2 220073722 220073722 single base substitution C T 3_prime_UTR_variant UCEC-US 2 220073722 220073722 single base substitution C T downstream_gene_variant UCEC-US 2 220073722 220073722 single base substitution C T exon_variant UCEC-US 2 220073722 220073722 single base substitution C T intron_variant UCEC-US 2 220073722 220073722 single base substitution C T missense_variant A227V 680C>T UCEC-US 2 220074000 220074000 single base substitution C T 3_prime_UTR_variant UCEC-US 2 220074000 220074000 single base substitution C T downstream_gene_variant UCEC-US 2 220074000 220074000 single base substitution C T exon_variant UCEC-US 2 220074000 220074000 single base substitution C T missense_variant S249L 746C>T UCEC-US 2 220074000 220074000 single base substitution C T stop_gained R38* 112C>T UCEC-US 2 220074723 220074723 single base substitution C T downstream_gene_variant UCEC-US 2 220074742 220074742 single base substitution C T downstream_gene_variant UCEC-US 2 220075763 220075763 single base substitution G A downstream_gene_variant UCEC-US 2 220075791 220075791 single base substitution G A downstream_gene_variant UCEC-US 2 220077177 220077177 single base substitution G A downstream_gene_variant UCEC-US 2 220077769 220077769 single base substitution G A downstream_gene_variant UCEC-US 2 220078657 220078657 single base substitution G A downstream_gene_variant UCEC-US 2 220078881 220078881 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-D1-A15X-01 COSM1016601 c.746C>T p.S249L Substitution - Missense 2:219209278-219209278 + OSCC-GB_00950111 COSM4881961 c.42C>A p.S14R Substitution - Missense 2:219207029-219207029 + TCGA-BQ-5881-01 COSM3991083 c.446T>G p.I149S Substitution - Missense 2:219208267-219208267 + TCGA-HT-7604-01 COSM3972032 c.268C>G p.Q90E Substitution - Missense 2:219207765-219207765 + TCGA-AR-A1AR-01 COSM442337 c.174T>C p.P58P Substitution - coding silent 2:219207671-219207671 + TCGA-AY-6197-01 COSM1405583 c.693A>T p.A231A Substitution - coding silent 2:219209013-219209013 + PT35 COSM5911823 c.173C>T p.P58L Substitution - Missense 2:219207670-219207670 + YUMOKI COSM3044564 c.531C>T p.A177A Substitution - coding silent 2:219208429-219208429 + TCGA-B5-A11E-01 COSM1016595 c.224C>T p.A75V Substitution - Missense 2:219207721-219207721 + 234 COSM3730867 c.583G>A p.G195S Substitution - Missense 2:219208481-219208481 + GC1_T COSM3748731 c.610C>T p.R204W Substitution - Missense 2:219208593-219208593 + HN_63058 COSM128522 c.747G>T p.S249S Substitution - coding silent 2:219209279-219209279 + TCGA-AP-A059-01 COSM1016599 c.429G>A p.R143R Substitution - coding silent 2:219208033-219208033 + TCGA-AP-A0LG-01 COSM1016594 c.135A>T p.G45G Substitution - coding silent 2:219207406-219207406 + TCGA-12-5295-01 COSM3407588 c.472A>G p.T158A Substitution - Missense 2:219208293-219208293 + TCGA-B5-A11M-01 COSM1016598 c.358C>G p.R120G Substitution - Missense 2:219207962-219207962 + TCGA-B0-4852-01 COSM476935 c.446T>C p.I149T Substitution - Missense 2:219208267-219208267 + TCGA-B5-A0JT-01 COSM1016596 c.293A>G p.N98S Substitution - Missense 2:219207897-219207897 + 8057574 COSM3044554 c.323G>A p.R108Q Substitution - Missense 2:219207927-219207927 + OSCC-GB_00600111 COSM4890259 c.443C>T p.A148V Substitution - Missense 2:219208264-219208264 + TCGA-EB-A1NK-01 COSM3577905 c.423C>T p.T141T Substitution - coding silent 2:219208027-219208027 + sysucc-274T COSM5476320 c.439G>A p.A147T Substitution - Missense 2:219208260-219208260 + BN37 COSM1614384 c.104A>G p.D35G Substitution - Missense 2:219207375-219207375 + TCGA-D1-A103-01 COSM1016601 c.746C>T p.S249L Substitution - Missense 2:219209278-219209278 + TCGA-G4-6317-01 COSM1405582 c.357C>T p.S119S Substitution - coding silent 2:219207961-219207961 + B96-Tumor COSM1752358 c.456A>C p.A152A Substitution - coding silent 2:219208277-219208277 + CSCC-10-T COSM4496649 c.479C>T p.T160I Substitution - Missense 2:219208300-219208300 + TCGA-AP-A059-01 COSM1016597 c.356G>T p.S119I Substitution - Missense 2:219207960-219207960 + STC263 COSM5058686 c.343T>G p.C115G Substitution - Missense 2:219207947-219207947 + BN37T COSM1614384 c.104A>G p.D35G Substitution - Missense 2:219207375-219207375 + H1155 COSM1016595 c.224C>T p.A75V Substitution - Missense 2:219207721-219207721 + tumor_4135099 COSM3953033 c.528-5C>T p.? Unknown 2:219208421-219208421 + TCGA-HC-7080-01 COSM3673614 c.220C>A p.R74S Substitution - Missense 2:219207717-219207717 + 011T COSM1727690 c.164C>G p.P55R Substitution - Missense 2:219207661-219207661 + TCGA-BS-A0UV-01 COSM1016600 c.680C>T p.A227V Substitution - Missense 2:219209000-219209000 + TCGA-C8-A1HE-01 COSM1482783 c.741C>T p.R247R Substitution - coding silent 2:219209273-219209273 + TCGA-F4-6703-01 COSM3695276 c.752C>T p.P251L Substitution - Missense 2:219209284-219209284 + 98735 COSM326915 c.158A>T p.Q53L Substitution - Missense 2:219207655-219207655 + 2318503 COSM4777405 c.121C>T p.Q41* Substitution - Nonsense 2:219207392-219207392 + TCGA-EK-A2PG-01 COSM4819546 c.203G>T p.R68I Substitution - Missense 2:219207700-219207700 + TCGA-AM-5821-01 COSM3757957 c.212C>A p.P71H Substitution - Missense 2:219207709-219207709 + PD18283a COSM3770375 c.729G>T p.Q243H Substitution - Missense 2:219209049-219209049 + TCGA-CJ-5677-01 COSM476937 c.475A>G p.S159G Substitution - Missense 2:219208296-219208296 + sysucc-1317T COSM5449625 c.177C>T p.L59L Substitution - coding silent 2:219207674-219207674 + SJHGG001_A COSM4968678 c.684_688delAGCAC p.A229fs*6 Deletion - Frameshift 2:219209004-219209008 + TCGA-CJ-5672-01 COSM476936 c.447C>A p.I149I Substitution - coding silent 2:219208268-219208268 + TCGA-18-3407-01 COSM719918 c.151-1G>T p.? Unknown 2:219207647-219207647 + TCGA-DY-A0XA-01 COSM1565074 c.99C>T p.C33C Substitution - coding silent 2:219207370-219207370 + 06-P2007 COSM4583202 c.539G>A p.R180Q Substitution - Missense 2:219208437-219208437 + UM-SCC-17B COSM4598552 c.271C>A p.Q91K Substitution - Missense 2:219207768-219207768 + TCGA-A4-A57E-01 COSM3991081 c.388C>T p.L130L Substitution - coding silent 2:219207992-219207992 + STC291 COSM5058684 c.22G>A p.A8T Substitution - Missense 2:219207009-219207009 + B96 COSM1752358 c.456A>C p.A152A Substitution - coding silent 2:219208277-219208277 + TCGA-CD-5801-01 COSM4091622 c.252T>C p.C84C Substitution - coding silent 2:219207749-219207749 + TCGA-BP-4999-01 COSM476938 c.696G>A p.L232L Substitution - coding silent 2:219209016-219209016 + 8013014 COSM3044554 c.323G>A p.R108Q Substitution - Missense 2:219207927-219207927 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.534540 2q35 613474

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G IntronicSNV . c.150+52A>G 2 220072195 CM A G Missense p.N98S c.293A>G 2 220072619 UCEC A G Missense p.S159G c.475A>G 2 220073018 RCCC A G Missense p.T158A c.472A>G 2 220073015 GBM A T Missense p.Q53L c.158A>T 2 220072377 SCLC A T Synonymous p.G45G c.135A>T 2 220072128 UCEC C A Missense p.R74S c.220C>A 2 220072439 PRAD C A Synonymous p.I149I c.447C>A 2 220072990 RCCC C G Missense p.Q90E c.268C>G 2 220072487 LGG C G Missense p.R120G c.358C>G 2 220072684 UCEC C T Synonymous p.R247R c.741C>T 2 220073995 BRCA C T Synonymous p.T141T c.423C>T 2 220072749 CM G A Missense p.V189M c.565G>A 2 220073185 LUAD G A Synonymous p.L232L c.696G>A 2 220073738 RCCC G T SpliceAcceptorSNV . c.151-1G>T 2 220072369 LUSC G T Synonymous p.S249S c.747G>T 2 220074001 HNSC T C Missense p.I149T c.446T>C 2 220072989 RCCC T C Synonymous p.P58P c.174T>C 2 220072393 BRCA T G IntronicSNV . c.435-16T>G 2 220072962 HC