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 96259801 96259801 + Missense_Mutation SNP G G C TCGA-DK-A2I6-01A-12D-A18F-08 TCGA-DK-A2I6-10A-01D-A18F-08 g.chr2:96259801G>C c.30G>C c.(28-30)caG>caC p.Q10H BLCA 2 96260853 96260853 + Missense_Mutation SNP G G T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr2:96260853G>T c.467G>T c.(466-468)aGa>aTa p.R156I BLCA 2 96262089 96262089 + Missense_Mutation SNP G G C TCGA-DK-AA77-01A-11D-A391-08 TCGA-DK-AA77-10A-01D-A394-08 g.chr2:96262089G>C c.647G>C c.(646-648)tGg>tCg p.W216S BRCA 2 96259815 96259815 + Missense_Mutation SNP G G C TCGA-E2-A158-01A-11D-A12B-09 TCGA-E2-A158-11A-22D-A12B-09 g.chr2:96259815G>C c.44G>C c.(43-45)tGc>tCc p.C15S BRCA 2 96260029 96260029 + Silent SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr2:96260029G>C c.258G>C c.(256-258)ctG>ctC p.L86L BRCA 2 96265165 96265165 + Silent SNP C C T TCGA-A2-A4S3-01A-21D-A25Q-09 TCGA-A2-A4S3-10A-01D-A25Q-09 g.chr2:96265165C>T c.1185C>T c.(1183-1185)taC>taT p.Y395Y BRCA 2 96265165 96265165 + Silent SNP C C T TCGA-GM-A3XN-01A-12D-A22X-09 TCGA-GM-A3XN-10A-01D-A22X-09 g.chr2:96265165C>T c.1185C>T c.(1183-1185)taC>taT p.Y395Y CESC 2 96265243 96265243 + Silent SNP G G A TCGA-C5-A1BQ-01C-11D-A20U-09 TCGA-C5-A1BQ-10A-01D-A20U-09 g.chr2:96265243G>A c.1263G>A c.(1261-1263)aaG>aaA p.K421K COAD 2 96259796 96259796 + Missense_Mutation SNP T T A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:96259796T>A c.25T>A c.(25-27)Ttc>Atc p.F9I COAD 2 96260080 96260080 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:96260080C>A c.309C>A c.(307-309)ttC>ttA p.F103L COAD 2 96260800 96260800 + Missense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:96260800G>T c.414G>T c.(412-414)gaG>gaT p.E138D COAD 2 96260831 96260831 + Frame_Shift_Del DEL A A - TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:96260831delA c.445delA c.(445-447)aaafs p.K150fs COAD 2 96262062 96262062 + Missense_Mutation SNP A A G TCGA-AZ-6603-01A-11D-1835-10 TCGA-AZ-6603-11A-02D-1835-10 g.chr2:96262062A>G c.620A>G c.(619-621)gAg>gGg p.E207G COAD 2 96262062 96262062 + Missense_Mutation SNP A A G TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr2:96262062A>G c.620A>G c.(619-621)gAg>gGg p.E207G COADREAD 2 96259783 96259783 + Missense_Mutation SNP C C A TCGA-AG-A011-01A-01W-A00K-09 TCGA-AG-A011-10A-01W-A00K-09 g.chr2:96259783C>A c.12C>A c.(10-12)gaC>gaA p.D4E COADREAD 2 96259796 96259796 + Missense_Mutation SNP T T A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr2:96259796T>A c.25T>A c.(25-27)Ttc>Atc p.F9I COADREAD 2 96260080 96260080 + Missense_Mutation SNP C C A TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr2:96260080C>A c.309C>A c.(307-309)ttC>ttA p.F103L COADREAD 2 96260179 96260179 + Missense_Mutation SNP C C G TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chr2:96260179C>G c.408C>G c.(406-408)caC>caG p.H136Q COADREAD 2 96260800 96260800 + Missense_Mutation SNP G G T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr2:96260800G>T c.414G>T c.(412-414)gaG>gaT p.E138D COADREAD 2 96260831 96260831 + Frame_Shift_Del DEL A A - TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr2:96260831delA c.445delA c.(445-447)aaafs p.K150fs COADREAD 2 96262062 96262062 + Missense_Mutation SNP A A G TCGA-AZ-6603-01A-11D-1835-10 TCGA-AZ-6603-11A-02D-1835-10 g.chr2:96262062A>G c.620A>G c.(619-621)gAg>gGg p.E207G COADREAD 2 96262062 96262062 + Missense_Mutation SNP A A G TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr2:96262062A>G c.620A>G c.(619-621)gAg>gGg p.E207G ESCA 2 96262096 96262096 + Silent SNP A A G TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr2:96262096A>G c.654A>G c.(652-654)aaA>aaG p.K218K ESCA 2 96262110 96262110 + Missense_Mutation SNP G G T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr2:96262110G>T c.668G>T c.(667-669)aGt>aTt p.S223I ESCA 2 96265165 96265165 + Silent SNP C C T TCGA-LN-A8I1-01A-11D-A36J-09 TCGA-LN-A8I1-10A-01D-A36M-09 g.chr2:96265165C>T c.1185C>T c.(1183-1185)taC>taT p.Y395Y ESCA 2 96265165 96265165 + Silent SNP C C T TCGA-R6-A6XQ-01B-11D-A33E-09 TCGA-R6-A6XQ-10A-01D-A33H-09 g.chr2:96265165C>T c.1185C>T c.(1183-1185)taC>taT p.Y395Y GBM 2 96262159 96262159 + Missense_Mutation SNP A A T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 g.chr2:96262159A>T c.717A>T c.(715-717)aaA>aaT p.K239N GBMLGG 2 96260159 96260159 + Missense_Mutation SNP G G A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 g.chr2:96260159G>A c.388G>A c.(388-390)Gaa>Aaa p.E130K GBMLGG 2 96262159 96262159 + Missense_Mutation SNP A A T TCGA-06-0152-01A-02W-0323-08 TCGA-06-0152-10A-01W-0323-08 g.chr2:96262159A>T c.717A>T c.(715-717)aaA>aaT p.K239N HNSC 2 96260159 96260159 + Missense_Mutation SNP G G C TCGA-BB-4227-01A-01D-1870-08 TCGA-BB-4227-10A-01D-1870-08 g.chr2:96260159G>C c.388G>C c.(388-390)Gaa>Caa p.E130Q HNSC 2 96260164 96260164 + Missense_Mutation SNP G G T TCGA-CV-5441-01A-01D-1512-08 TCGA-CV-5441-11A-01D-1512-08 g.chr2:96260164G>T c.393G>T c.(391-393)gaG>gaT p.E131D HNSC 2 96260835 96260835 + Missense_Mutation SNP A A G TCGA-CV-7424-01A-11D-2078-08 TCGA-CV-7424-10A-01D-2078-08 g.chr2:96260835A>G c.449A>G c.(448-450)aAg>aGg p.K150R HNSC 2 96260870 96260870 + Missense_Mutation SNP G G A TCGA-CN-5358-01A-01D-1512-08 TCGA-CN-5358-10A-01D-1512-08 g.chr2:96260870G>A c.484G>A c.(484-486)Gga>Aga p.G162R HNSC 2 96260870 96260870 + Missense_Mutation SNP G G A TCGA-D6-A6EK-01A-11D-A31L-08 TCGA-D6-A6EK-10A-01D-A31J-08 g.chr2:96260870G>A c.484G>A c.(484-486)Gga>Aga p.G162R HNSC 2 96260870 96260870 + Missense_Mutation SNP G G A TCGA-HD-8224-01A-11D-2394-08 TCGA-HD-8224-10A-01D-2394-08 g.chr2:96260870G>A c.484G>A c.(484-486)Gga>Aga p.G162R KICH 2 96260889 96260889 + Missense_Mutation SNP G G T TCGA-KL-8333-01A-11D-2310-10 TCGA-KL-8333-11A-01D-2310-10 g.chr2:96260889G>T c.503G>T c.(502-504)tGg>tTg p.W168L KIPAN 2 96260855 96260855 + Missense_Mutation SNP A A T TCGA-B9-5156-01A-01D-1589-08 TCGA-B9-5156-10A-01D-1589-08 g.chr2:96260855A>T c.469A>T c.(469-471)Aat>Tat p.N157Y KIPAN 2 96260889 96260889 + Missense_Mutation SNP G G T TCGA-KL-8333-01A-11D-2310-10 TCGA-KL-8333-11A-01D-2310-10 g.chr2:96260889G>T c.503G>T c.(502-504)tGg>tTg p.W168L KIRP 2 96260855 96260855 + Missense_Mutation SNP A A T TCGA-B9-5156-01A-01D-1589-08 TCGA-B9-5156-10A-01D-1589-08 g.chr2:96260855A>T c.469A>T c.(469-471)Aat>Tat p.N157Y LGG 2 96260159 96260159 + Missense_Mutation SNP G G A TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 g.chr2:96260159G>A c.388G>A c.(388-390)Gaa>Aaa p.E130K LUAD 2 96259801 96259801 + Missense_Mutation SNP G G C TCGA-49-4487-01A-21D-1855-08 TCGA-49-4487-11A-01D-1855-08 g.chr2:96259801G>C c.30G>C c.(28-30)caG>caC p.Q10H LUAD 2 96260875 96260875 + Silent SNP A A G TCGA-75-6211-01A-11D-1753-08 TCGA-75-6211-10A-01D-1753-08 g.chr2:96260875A>G c.489A>G c.(487-489)agA>agG p.R163R LUAD 2 96261979 96261979 + Silent SNP C C A TCGA-17-Z043-01A-01W-0746-08 TCGA-17-Z043-11A-01W-0746-08 g.chr2:96261979C>A c.537C>A c.(535-537)atC>atA p.I179I LUAD 2 96262052 96262052 + Missense_Mutation SNP G G C TCGA-55-A4DG-01A-11D-A24D-08 TCGA-55-A4DG-10A-01D-A24F-08 g.chr2:96262052G>C c.610G>C c.(610-612)Gaa>Caa p.E204Q LUAD 2 96262129 96262129 + Missense_Mutation SNP G G T TCGA-17-Z015-01A-01W-0746-08 TCGA-17-Z015-11A-01W-0746-08 g.chr2:96262129G>T c.687G>T c.(685-687)atG>atT p.M229I LUAD 2 96262151 96262151 + Missense_Mutation SNP T T C TCGA-MP-A4TK-01A-11D-A24P-08 TCGA-MP-A4TK-10A-01D-A24P-08 g.chr2:96262151T>C c.709T>C c.(709-711)Tgt>Cgt p.C237R LUSC 2 96260870 96260870 + Missense_Mutation SNP G G A TCGA-60-2709-01A-21D-1817-08 TCGA-60-2709-11A-01D-1817-08 g.chr2:96260870G>A c.484G>A c.(484-486)Gga>Aga p.G162R LUSC 2 96260880 96260880 + Missense_Mutation SNP C C T TCGA-37-4141-01A-02D-1352-08 TCGA-37-4141-10A-01D-1352-08 g.chr2:96260880C>T c.494C>T c.(493-495)gCc>gTc p.A165V OV 2 96259860 96259860 + Missense_Mutation SNP G G T TCGA-24-1616-01A-01W-0553-09 TCGA-24-1616-10A-01W-0553-09 g.chr2:96259860G>T c.89G>T c.(88-90)tGt>tTt p.C30F OV 2 96262063 96262063 + Missense_Mutation SNP G G C TCGA-24-1417-01A-01W-0549-09 TCGA-24-1417-10A-01W-0549-09 g.chr2:96262063G>C c.621G>C c.(619-621)gaG>gaC p.E207D PRAD 2 96260870 96260870 + Missense_Mutation SNP G G A TCGA-CH-5741-01A-11D-1576-08 TCGA-CH-5741-10A-01D-1576-08 g.chr2:96260870G>A c.484G>A c.(484-486)Gga>Aga p.G162R PRAD 2 96260870 96260870 + Missense_Mutation SNP G G A TCGA-VP-A87K-01A-11D-A34U-08 TCGA-VP-A87K-10A-01D-A34X-08 g.chr2:96260870G>A c.484G>A c.(484-486)Gga>Aga p.G162R READ 2 96259783 96259783 + Missense_Mutation SNP C C A TCGA-AG-A011-01A-01W-A00K-09 TCGA-AG-A011-10A-01W-A00K-09 g.chr2:96259783C>A c.12C>A c.(10-12)gaC>gaA p.D4E READ 2 96260179 96260179 + Missense_Mutation SNP C C G TCGA-AF-5654-01A-01D-1657-10 TCGA-AF-5654-10A-01D-1657-10 g.chr2:96260179C>G c.408C>G c.(406-408)caC>caG p.H136Q SARC 2 96259841 96259841 + Missense_Mutation SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr2:96259841G>A c.70G>A c.(70-72)Gac>Aac p.D24N

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 2 96259801 96259801 single base substitution G C missense_variant Q10H 30G>C BRCA-EU 2 96254929 96254929 single base substitution A T upstream_gene_variant BRCA-EU 2 96255106 96255106 single base substitution G C upstream_gene_variant BRCA-EU 2 96255979 96255979 single base substitution T A upstream_gene_variant BRCA-EU 2 96256014 96256014 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 96257242 96257242 single base substitution G C upstream_gene_variant BRCA-EU 2 96257264 96257264 single base substitution C T upstream_gene_variant BRCA-EU 2 96257392 96257392 single base substitution C T upstream_gene_variant BRCA-EU 2 96257403 96257403 single base substitution G C upstream_gene_variant BRCA-EU 2 96258292 96258292 insertion of <=200bp - T intron_variant BRCA-EU 2 96258915 96258915 single base substitution A G intron_variant BRCA-EU 2 96259655 96259655 single base substitution T C intron_variant BRCA-EU 2 96259909 96259909 single base substitution C A synonymous_variant A46A 138C>A BRCA-EU 2 96261839 96261839 single base substitution C A intron_variant BRCA-FR 2 96255106 96255106 single base substitution G C upstream_gene_variant BRCA-FR 2 96256275 96256275 single base substitution T C upstream_gene_variant BRCA-FR 2 96259909 96259909 single base substitution C A synonymous_variant A46A 138C>A BRCA-FR 2 96260615 96260615 single base substitution G A intron_variant BRCA-US 2 96259815 96259815 single base substitution G C missense_variant C15S 44G>C BRCA-US 2 96260029 96260029 single base substitution G C synonymous_variant L86L 258G>C BRCA-US 2 96265165 96265165 single base substitution C T synonymous_variant Y395Y 1185C>T CESC-US 2 96265243 96265243 single base substitution G A synonymous_variant K421K 1263G>A CLLE-ES 2 96258779 96258779 single base substitution G A intron_variant COAD-US 2 96259796 96259796 single base substitution T A missense_variant F9I 25T>A COAD-US 2 96260831 96260831 deletion of <=200bp A - frameshift_variant K149 COCA-CN 2 96256018 96256018 single base substitution A G upstream_gene_variant COCA-CN 2 96259817 96259817 single base substitution G A missense_variant V16I 46G>A COCA-CN 2 96260667 96260667 single base substitution A G intron_variant COCA-CN 2 96260979 96260979 single base substitution T C intron_variant ESAD-UK 2 96256021 96256021 deletion of <=200bp T - upstream_gene_variant ESAD-UK 2 96256308 96256308 single base substitution T G upstream_gene_variant ESAD-UK 2 96258428 96258428 single base substitution T A intron_variant ESAD-UK 2 96259019 96259019 single base substitution T A intron_variant ESAD-UK 2 96261540 96261540 insertion of <=200bp - A intron_variant ESCA-CN 2 96259817 96259817 single base substitution G A missense_variant V16I 46G>A GBM-US 2 96262159 96262159 single base substitution A T missense_variant K239N 717A>T KIRC-US 2 96260870 96260870 single base substitution G A missense_variant G162R 484G>A KIRP-US 2 96260855 96260855 single base substitution A T missense_variant N157Y 469A>T LAML-KR 2 96256604 96256604 single base substitution A T upstream_gene_variant LAML-KR 2 96260236 96260236 single base substitution T G intron_variant LAML-KR 2 96263114 96263114 single base substitution G A intron_variant LAML-KR 2 96264275 96264275 single base substitution C T intron_variant LAML-KR 2 96264512 96264512 single base substitution A G intron_variant LICA-FR 2 96259083 96259083 single base substitution T C intron_variant LICA-FR 2 96259805 96259805 single base substitution G A missense_variant E12K 34G>A LICA-FR 2 96261799 96261799 single base substitution T A intron_variant LIHC-US 2 96260836 96260836 single base substitution G T missense_variant K150N 450G>T LIRI-JP 2 96255148 96255148 single base substitution T C upstream_gene_variant LIRI-JP 2 96255789 96255789 single base substitution C G upstream_gene_variant LIRI-JP 2 96256029 96256032 deletion of <=200bp TATT - upstream_gene_variant LUSC-KR 2 96256244 96256244 single base substitution C A upstream_gene_variant LUSC-KR 2 96256262 96256262 single base substitution C A upstream_gene_variant LUSC-KR 2 96256604 96256604 single base substitution A T upstream_gene_variant LUSC-KR 2 96258260 96258260 single base substitution C A intron_variant LUSC-KR 2 96262165 96262165 single base substitution T G missense_variant D241E 723T>G LUSC-KR 2 96265165 96265165 single base substitution C T synonymous_variant Y395Y 1185C>T LUSC-KR 2 96265529 96265529 single base substitution C T downstream_gene_variant LUSC-US 2 96260870 96260870 single base substitution G A missense_variant G162R 484G>A LUSC-US 2 96260880 96260880 single base substitution C T missense_variant A165V 494C>T MALY-DE 2 96255917 96255917 insertion of <=200bp - A upstream_gene_variant MELA-AU 2 96252802 96252802 single base substitution G A upstream_gene_variant MELA-AU 2 96253349 96253350 multiple base substitution (>=2bp and <=200bp) CT TC upstream_gene_variant MELA-AU 2 96255393 96255393 single base substitution G A upstream_gene_variant MELA-AU 2 96255416 96255416 single base substitution A G upstream_gene_variant MELA-AU 2 96255525 96255525 single base substitution C T upstream_gene_variant MELA-AU 2 96255669 96255669 single base substitution G A upstream_gene_variant MELA-AU 2 96256082 96256082 single base substitution C T upstream_gene_variant MELA-AU 2 96256154 96256154 single base substitution C T upstream_gene_variant MELA-AU 2 96256402 96256402 single base substitution T G upstream_gene_variant MELA-AU 2 96256656 96256656 single base substitution T C upstream_gene_variant MELA-AU 2 96256788 96256788 single base substitution T C upstream_gene_variant MELA-AU 2 96256896 96256896 single base substitution C T upstream_gene_variant MELA-AU 2 96257235 96257235 single base substitution C T upstream_gene_variant MELA-AU 2 96257299 96257299 single base substitution T G upstream_gene_variant MELA-AU 2 96257304 96257304 single base substitution T A upstream_gene_variant MELA-AU 2 96258001 96258001 single base substitution A G intron_variant MELA-AU 2 96258017 96258017 single base substitution T C intron_variant MELA-AU 2 96258267 96258267 single base substitution C T intron_variant MELA-AU 2 96258539 96258539 single base substitution G A intron_variant MELA-AU 2 96258652 96258652 single base substitution T G intron_variant MELA-AU 2 96258660 96258660 single base substitution G A intron_variant MELA-AU 2 96258747 96258747 single base substitution C T intron_variant MELA-AU 2 96258799 96258799 single base substitution C T intron_variant MELA-AU 2 96258886 96258886 single base substitution C T intron_variant MELA-AU 2 96258989 96258989 single base substitution C T intron_variant MELA-AU 2 96259228 96259228 single base substitution C T intron_variant MELA-AU 2 96259514 96259514 single base substitution C T intron_variant MELA-AU 2 96259627 96259627 single base substitution C T intron_variant MELA-AU 2 96259805 96259805 single base substitution G A missense_variant E12K 34G>A MELA-AU 2 96260923 96260923 single base substitution C T intron_variant MELA-AU 2 96261475 96261475 single base substitution G A intron_variant MELA-AU 2 96261705 96261705 single base substitution C T intron_variant MELA-AU 2 96262199 96262199 single base substitution C T intron_variant MELA-AU 2 96262301 96262301 single base substitution C T intron_variant MELA-AU 2 96262305 96262305 single base substitution G A intron_variant MELA-AU 2 96265504 96265504 single base substitution C A 3_prime_UTR_variant OV-US 2 96259860 96259860 single base substitution G T missense_variant C30F 89G>T OV-US 2 96262063 96262063 single base substitution G C missense_variant E207D 621G>C PACA-AU 2 96256014 96256014 deletion of <=200bp A - upstream_gene_variant PACA-AU 2 96257940 96257940 single base substitution A G intron_variant PACA-AU 2 96258538 96258538 single base substitution G A intron_variant PACA-AU 2 96258738 96258738 single base substitution G A intron_variant PACA-AU 2 96260196 96260196 single base substitution C G intron_variant PACA-AU 2 96265389 96265389 single base substitution G T 3_prime_UTR_variant PACA-CA 2 96255833 96255833 single base substitution A G upstream_gene_variant PACA-CA 2 96255935 96255935 single base substitution A G upstream_gene_variant PACA-CA 2 96256089 96256089 single base substitution G T upstream_gene_variant PBCA-DE 2 96256842 96256842 single base substitution G A upstream_gene_variant PRAD-CA 2 96260226 96260226 single base substitution G A intron_variant PRAD-CA 2 96260706 96260706 single base substitution T G intron_variant PRAD-UK 2 96253500 96253500 single base substitution G A upstream_gene_variant PRAD-US 2 96260870 96260870 single base substitution G A missense_variant G162R 484G>A READ-US 2 96260179 96260179 single base substitution C G missense_variant H136Q 408C>G RECA-EU 2 96252934 96252934 single base substitution C A upstream_gene_variant RECA-EU 2 96258698 96258698 single base substitution G C intron_variant RECA-EU 2 96258839 96258839 single base substitution G C intron_variant SKCA-BR 2 96252961 96252961 single base substitution G A upstream_gene_variant SKCA-BR 2 96253543 96253543 single base substitution G T upstream_gene_variant SKCA-BR 2 96254943 96254943 single base substitution A G upstream_gene_variant SKCA-BR 2 96256738 96256738 single base substitution A T upstream_gene_variant SKCA-BR 2 96257159 96257159 single base substitution C T upstream_gene_variant SKCA-BR 2 96257995 96257995 single base substitution T C intron_variant SKCA-BR 2 96258035 96258035 single base substitution C T intron_variant SKCA-BR 2 96258068 96258068 single base substitution C T intron_variant SKCA-BR 2 96258309 96258309 single base substitution C T intron_variant SKCA-BR 2 96261567 96261567 single base substitution G A intron_variant SKCA-BR 2 96264245 96264245 single base substitution T C intron_variant SKCA-BR 2 96268659 96268659 single base substitution G T downstream_gene_variant SKCM-US 2 96259768 96259768 single base substitution G A splice_region_variant UCEC-US 2 96259976 96259976 single base substitution C A missense_variant L69I 205C>A UCEC-US 2 96260044 96260044 single base substitution A G synonymous_variant Q91Q 273A>G UCEC-US 2 96262004 96262004 single base substitution C A missense_variant P188T 562C>A UCEC-US 2 96262063 96262063 single base substitution G T missense_variant E207D 621G>T UCEC-US 2 96265135 96265135 single base substitution C A synonymous_variant L385L 1155C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand DN110E8 COSM5794034 c.138C>A p.A46A Substitution - coding silent 2:95594161-95594161 + CSCC-31-T COSM4551809 c.540G>A p.R180R Substitution - coding silent 2:95596234-95596234 + PT19_2 COSM4793001 c.34G>A p.E12K Substitution - Missense 2:95594057-95594057 + TCGA-AX-A05Z-01 COSM1023726 c.1155C>A p.L385L Substitution - coding silent 2:95599387-95599387 + 4000_T COSM3963227 c.1170A>G p.P390P Substitution - coding silent 2:95599402-95599402 + TCGA-37-4141-01 COSM722871 c.494C>T p.A165V Substitution - Missense 2:95595132-95595132 + TCGA-AC-A23H-01 COSM3840249 c.258G>C p.L86L Substitution - coding silent 2:95594281-95594281 + CSCC-27-T COSM4548346 c.444G>A p.W148* Substitution - Nonsense 2:95595082-95595082 + TCGA-24-1417-01 COSM76821 c.621G>C p.E207D Substitution - Missense 2:95596315-95596315 + Detroit_562 COSM3766595 c.1185C>T p.Y395Y Substitution - coding silent 2:95599417-95599417 + LUAD-RT-S01477 COSM377573 c.408C>T p.H136H Substitution - coding silent 2:95594431-95594431 + TCGA-D1-A17Q-01 COSM1023720 c.273A>G p.Q91Q Substitution - coding silent 2:95594296-95594296 + TCGA-AG-A00Y-01 COSM5072404 c.335G>A p.C112Y Substitution - Missense 2:95594358-95594358 + TCGA-CH-5741-01 COSM722872 c.484G>A p.G162R Substitution - Missense 2:95595122-95595122 + NOKSI COSM4595402 c.511A>G p.N171D Substitution - Missense 2:95596205-95596205 + CSCC-27-T COSM4548345 c.444G>A p.W148* Substitution - Nonsense 2:95595082-95595082 + Detroit_562 COSM3766596 c.1185C>T p.Y395Y Substitution - coding silent 2:95599417-95599417 + TCGA-CH-5741-01 COSM722873 c.484G>A p.G162R Substitution - Missense 2:95595122-95595122 + TCGA-37-4141-01 COSM722870 c.494C>T p.A165V Substitution - Missense 2:95595132-95595132 + TCGA-AG-A00Y-01 COSM5072405 c.335G>A p.C112Y Substitution - Missense 2:95594358-95594358 + PD7202a COSM5794035 c.138C>A p.A46A Substitution - coding silent 2:95594161-95594161 + H1672 COSM316147 c.551G>A p.R184K Substitution - Missense 2:95596245-95596245 + PT49 COSM5934617 c.4G>A p.D2N Substitution - Missense 2:95594027-95594027 + TCGA-06-0152 COSM2149850 c.717A>T p.K239N Substitution - Missense 2:95596411-95596411 + LUAD-S01302 COSM395999 c.730C>G p.L244V Substitution - Missense 2:95596424-95596424 + TCGA-60-2709-01 COSM722872 c.484G>A p.G162R Substitution - Missense 2:95595122-95595122 + CSCC-31-T COSM4551810 c.540G>A p.R180R Substitution - coding silent 2:95596234-95596234 + SA051 COSM213036 c.98G>A p.S33N Substitution - Missense 2:95594121-95594121 + SA051 COSM213037 c.98G>A p.S33N Substitution - Missense 2:95594121-95594121 + ESCC-015T COSM3939233 c.46G>A p.V16I Substitution - Missense 2:95594069-95594069 + PTC-6C COSM3766595 c.1185C>T p.Y395Y Substitution - coding silent 2:95599417-95599417 + TCGA-E2-A158-01 COSM443369 c.44G>C p.C15S Substitution - Missense 2:95594067-95594067 + TCGA-CA-6717-01 COSM1409998 c.25T>A p.F9I Substitution - Missense 2:95594048-95594048 + CHC320T COSM3766596 c.1185C>T p.Y395Y Substitution - coding silent 2:95599417-95599417 + TCGA-A2-A4S3-01 COSM3766595 c.1185C>T p.Y395Y Substitution - coding silent 2:95599417-95599417 + TCGA-UB-A7MB-01 COSM4931830 c.450G>T p.K150N Substitution - Missense 2:95595088-95595088 + PTC-6C COSM3766596 c.1185C>T p.Y395Y Substitution - coding silent 2:95599417-95599417 + ESCC-015T COSM3939234 c.46G>A p.V16I Substitution - Missense 2:95594069-95594069 + HN_62854 COSM129898 c.15C>G p.F5L Substitution - Missense 2:95594038-95594038 + TCGA-C5-A1BQ-01 COSM4841798 c.1263G>A p.K421K Substitution - coding silent 2:95599495-95599495 + PD7202a COSM5794034 c.138C>A p.A46A Substitution - coding silent 2:95594161-95594161 + LUAD-RT-S01477 COSM377574 c.408C>T p.H136H Substitution - coding silent 2:95594431-95594431 + sysucc-627T COSM3939233 c.46G>A p.V16I Substitution - Missense 2:95594069-95594069 + TCGA-06-0152-01 COSM2149849 c.717A>T p.K239N Substitution - Missense 2:95596411-95596411 + TCGA-B5-A0JY-01 COSM1023724 c.621G>T p.E207D Substitution - Missense 2:95596315-95596315 + CSCC-27-T COSM4491860 c.387C>T p.I129I Substitution - coding silent 2:95594410-95594410 + CHC2029T COSM4793001 c.34G>A p.E12K Substitution - Missense 2:95594057-95594057 + T3668 COSM4736113 c.482A>G p.E161G Substitution - Missense 2:95595120-95595120 + CHC320T COSM3766595 c.1185C>T p.Y395Y Substitution - coding silent 2:95599417-95599417 + TCGA-UB-A7MB-01 COSM4931831 c.450G>T p.K150N Substitution - Missense 2:95595088-95595088 + Pat_26_B COSM5863000 c.125C>T p.S42L Substitution - Missense 2:95594148-95594148 + TCGA-AD-6895-01 COSM1410000 c.445delA p.K150fs*29 Deletion - Frameshift 2:95595083-95595083 + S00936 COSM316149 c.340C>T p.L114L Substitution - coding silent 2:95594363-95594363 + TCGA-B5-A0JY-01 COSM1023723 c.621G>T p.E207D Substitution - Missense 2:95596315-95596315 + TCGA-AA-A010-01 COSM285946 c.309C>A p.F103L Substitution - Missense 2:95594332-95594332 + 1428_T COSM3963224 c.355C>G p.Q119E Substitution - Missense 2:95594378-95594378 + TCGA-A2-A4S3-01 COSM3766596 c.1185C>T p.Y395Y Substitution - coding silent 2:95599417-95599417 + PTC-53C COSM3766595 c.1185C>T p.Y395Y Substitution - coding silent 2:95599417-95599417 + S00936 COSM316150 c.340C>T p.L114L Substitution - coding silent 2:95594363-95594363 + PT19_2 COSM4793002 c.34G>A p.E12K Substitution - Missense 2:95594057-95594057 + T3668 COSM4736114 c.482A>G p.E161G Substitution - Missense 2:95595120-95595120 + TCGA-A5-A0GP-01 COSM1023718 c.205C>A p.L69I Substitution - Missense 2:95594228-95594228 + TCGA-60-2709-01 COSM722873 c.484G>A p.G162R Substitution - Missense 2:95595122-95595122 + TCGA-CA-6717-01 COSM1409999 c.25T>A p.F9I Substitution - Missense 2:95594048-95594048 + TCGA-AX-A05Z-01 COSM1023725 c.1155C>A p.L385L Substitution - coding silent 2:95599387-95599387 + TCGA-GM-A3XN-01 COSM3766595 c.1185C>T p.Y395Y Substitution - coding silent 2:95599417-95599417 + TCGA-DK-A2I6-01 COSM576448 c.30G>C p.Q10H Substitution - Missense 2:95594053-95594053 + TCGA-AD-6895-01 COSM1410001 c.445delA p.K150fs*29 Deletion - Frameshift 2:95595083-95595083 + TCGA-06-0152 COSM2149849 c.717A>T p.K239N Substitution - Missense 2:95596411-95596411 + CHC2029T COSM4793001 c.34G>A p.E12K Substitution - Missense 2:95594057-95594057 + sysucc-627T COSM3939234 c.46G>A p.V16I Substitution - Missense 2:95594069-95594069 + LUAD-S01302 COSM395998 c.730C>G p.L244V Substitution - Missense 2:95596424-95596424 + PTC-10C COSM3766595 c.1185C>T p.Y395Y Substitution - coding silent 2:95599417-95599417 + TCGA-GM-A3XN-01 COSM3766596 c.1185C>T p.Y395Y Substitution - coding silent 2:95599417-95599417 + TCGA-AC-A23H-01 COSM3840248 c.258G>C p.L86L Substitution - coding silent 2:95594281-95594281 + PT49 COSM5934616 c.4G>A p.D2N Substitution - Missense 2:95594027-95594027 + TCGA-24-1616-01 COSM116851 c.89G>T p.C30F Substitution - Missense 2:95594112-95594112 + TCGA-B9-5156-01 COSM3991512 c.469A>T p.N157Y Substitution - Missense 2:95595107-95595107 + TCGA-AG-A011-01 COSM290025 c.12C>A p.D4E Substitution - Missense 2:95594035-95594035 + TCGA-DK-A2I6-01 COSM576447 c.30G>C p.Q10H Substitution - Missense 2:95594053-95594053 + DN110E8 COSM5794035 c.138C>A p.A46A Substitution - coding silent 2:95594161-95594161 + PTC-10C COSM3766596 c.1185C>T p.Y395Y Substitution - coding silent 2:95599417-95599417 + H1672 COSM316148 c.551G>A p.R184K Substitution - Missense 2:95596245-95596245 + TCGA-AF-5654-01 COSM1565931 c.408C>G p.H136Q Substitution - Missense 2:95594431-95594431 + CSCC-27-T COSM4491859 c.387C>T p.I129I Substitution - coding silent 2:95594410-95594410 + EGC8 COSM5059121 c.314A>G p.D105G Substitution - Missense 2:95594337-95594337 + C086 COSM5540815 c.610G>A p.E204K Substitution - Missense 2:95596304-95596304 + TCGA-C5-A1BQ-01 COSM4841797 c.1263G>A p.K421K Substitution - coding silent 2:95599495-95599495 + TCGA-AF-5654-01 COSM1565932 c.408C>G p.H136Q Substitution - Missense 2:95594431-95594431 + TCGA-AK-3445-01 COSM722873 c.484G>A p.G162R Substitution - Missense 2:95595122-95595122 + TCGA-AP-A059-01 COSM1023722 c.562C>A p.P188T Substitution - Missense 2:95596256-95596256 + TCGA-E2-A158-01 COSM443368 c.44G>C p.C15S Substitution - Missense 2:95594067-95594067 + 3844_T COSM3963226 c.412G>T p.E138* Substitution - Nonsense 2:95595050-95595050 + 4000_T COSM3963228 c.1170A>G p.P390P Substitution - coding silent 2:95599402-95599402 + TCGA-AA-A010-01 COSM285947 c.309C>A p.F103L Substitution - Missense 2:95594332-95594332 + CHC2029T COSM4793002 c.34G>A p.E12K Substitution - Missense 2:95594057-95594057 + TCGA-B9-5156-01 COSM3991511 c.469A>T p.N157Y Substitution - Missense 2:95595107-95595107 + TCGA-D1-A17Q-01 COSM1023719 c.273A>G p.Q91Q Substitution - coding silent 2:95594296-95594296 + TCGA-AP-A059-01 COSM1023721 c.562C>A p.P188T Substitution - Missense 2:95596256-95596256 + TCGA-AK-3445-01 COSM722872 c.484G>A p.G162R Substitution - Missense 2:95595122-95595122 + EGC8 COSM5059122 c.314A>G p.D105G Substitution - Missense 2:95594337-95594337 + TCGA-AG-A011-01 COSM290026 c.12C>A p.D4E Substitution - Missense 2:95594035-95594035 + 1428_T COSM3963223 c.355C>G p.Q119E Substitution - Missense 2:95594378-95594378 + NOKSI COSM4595401 c.511A>G p.N171D Substitution - Missense 2:95596205-95596205 + C086 COSM5540816 c.610G>A p.E204K Substitution - Missense 2:95596304-95596304 + 3844_T COSM3963225 c.412G>T p.E138* Substitution - Nonsense 2:95595050-95595050 + PTC-53C COSM3766596 c.1185C>T p.Y395Y Substitution - coding silent 2:95599417-95599417 + Pat_26_B COSM5862999 c.125C>T p.S42L Substitution - Missense 2:95594148-95594148 + CHC2029T COSM4793002 c.34G>A p.E12K Substitution - Missense 2:95594057-95594057 + TCGA-A5-A0GP-01 COSM1023717 c.205C>A p.L69I Substitution - Missense 2:95594228-95594228 + TCGA-06-0152-01 COSM2149850 c.717A>T p.K239N Substitution - Missense 2:95596411-95596411 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.232026 2q11.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.K150R c.449A>G 2 96260835 HNSC A G Synonymous p.R163R c.489A>G 2 96260875 LUAD A T Missense p.K239N c.717A>T 2 96262159 GBM C A Missense p.D4E c.12C>A 2 96259783 COREAD C A Missense p.L69I c.205C>A 2 96259976 UCEC C A Synonymous p.I179I c.537C>A 2 96261979 LUAD C G Missense p.F5L c.15C>G 2 96259786 HNSC C T Missense p.A165V c.494C>T 2 96260880 LUSC C T Synonymous p.L114L c.340C>T 2 96260111 SCLC G A Missense p.G162R c.484G>A 2 96260870 LUSC G A Missense p.G162R c.484G>A 2 96260870 RCCC G A Missense p.G162R c.484G>A 2 96260870 THCA G A Missense p.S33N c.98G>A 2 96259869 BRCA G C Missense p.C15S c.44G>C 2 96259815 BRCA G C Missense p.E130Q c.388G>C 2 96260159 HNSC G C Missense p.E207D c.621G>C 2 96262063 OV G C Missense p.Q10H c.30G>C 2 96259801 BLCA G C Missense p.Q10H c.30G>C 2 96259801 LUAD G C Missense p.R180S c.540G>C 2 96261982 LUAD G T Missense p.C30F c.89G>T 2 96259860 OV G T Missense p.E131D c.393G>T 2 96260164 HNSC G T Missense p.M229I c.687G>T 2 96262129 LUAD - T 3-UTRInsertion . c.1338+95dupT 2 96265408 CM T C Missense p.Y159H c.475T>C 2 96260861 CM