Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 16 2256104 2256104 + Silent SNP C C A TCGA-OR-A5JC-01A-11D-A29I-10 TCGA-OR-A5JC-10A-01D-A29L-10 g.chr16:2256104C>A c.18C>A c.(16-18)ggC>ggA p.G6G BLCA 16 2256159 2256159 + Missense_Mutation SNP C C G TCGA-BL-A3JM-01A-12D-A21A-08 TCGA-BL-A3JM-11A-31D-A21A-08 g.chr16:2256159C>G c.73C>G c.(73-75)Cgc>Ggc p.R25G BLCA 16 2256193 2256193 + Missense_Mutation SNP G G A TCGA-DK-A2I1-01A-11D-A17V-08 TCGA-DK-A2I1-10A-01D-A17V-08 g.chr16:2256193G>A c.107G>A c.(106-108)cGg>cAg p.R36Q BLCA 16 2257260 2257260 + Missense_Mutation SNP G G A TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr16:2257260G>A c.487G>A c.(487-489)Gag>Aag p.E163K BLCA 16 2257345 2257345 + Splice_Site SNP C C T TCGA-K4-AAQO-01A-11D-A38G-08 TCGA-K4-AAQO-10A-01D-A38J-08 g.chr16:2257345C>T c.572C>T c.(571-573)aCc>aTc p.T191I BLCA 16 2258555 2258562 + Frame_Shift_Del DEL CCTCCCGC CCTCCCGC - TCGA-K4-A6MB-01A-11D-A31L-08 TCGA-K4-A6MB-10A-01D-A31J-08 g.chr16:2258555_2258562delCCTCCCGC c.803_810delCCTCCCGC c.(802-810)tcctcccgcfs p.SSR268fs BRCA 16 2258236 2258237 + Frame_Shift_Ins INS - - G TCGA-A8-A09I-01A-22W-A050-09 TCGA-A8-A09I-10A-01W-A055-09 g.chr16:2258236_2258237insG c.599_600insG c.(598-603)acggggfs p.TG200fs CESC 16 2256404 2256404 + Missense_Mutation SNP G G T TCGA-C5-A7CH-01A-11D-A33O-09 TCGA-C5-A7CH-10A-01D-A33O-09 g.chr16:2256404G>T c.175G>T c.(175-177)Gct>Tct p.A59S COAD 16 2256583 2256583 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr16:2256583G>A c.267G>A c.(265-267)gcG>gcA p.A89A COAD 16 2257075 2257075 + Silent SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr16:2257075C>T c.384C>T c.(382-384)aaC>aaT p.N128N COADREAD 16 2256574 2256574 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:2256574G>T c.258G>T c.(256-258)aaG>aaT p.K86N COADREAD 16 2256583 2256583 + Silent SNP G G A TCGA-AA-3864-01A-01W-0995-10 TCGA-AA-3864-10A-01W-0995-10 g.chr16:2256583G>A c.267G>A c.(265-267)gcG>gcA p.A89A COADREAD 16 2257075 2257075 + Silent SNP C C T TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr16:2257075C>T c.384C>T c.(382-384)aaC>aaT p.N128N GBM 16 2256621 2256621 + Missense_Mutation SNP C C T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 g.chr16:2256621C>T c.305C>T c.(304-306)aCg>aTg p.T102M GBM 16 2256651 2256651 + Frame_Shift_Del DEL G G - TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 g.chr16:2256651delG c.335delG c.(334-336)tggfs p.W112fs GBMLGG 16 2256621 2256621 + Missense_Mutation SNP C C T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 g.chr16:2256621C>T c.305C>T c.(304-306)aCg>aTg p.T102M GBMLGG 16 2256651 2256651 + Frame_Shift_Del DEL G G - TCGA-06-1806-01A-02D-1845-08 TCGA-06-1806-10B-01D-1845-08 g.chr16:2256651delG c.335delG c.(334-336)tggfs p.W112fs GBMLGG 16 2258236 2258236 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:2258236C>T c.599C>T c.(598-600)aCg>aTg p.T200M GBMLGG 16 2258454 2258454 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:2258454C>T c.702C>T c.(700-702)ctC>ctT p.L234L GBMLGG 16 2258498 2258498 + Missense_Mutation SNP C C T TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 g.chr16:2258498C>T c.746C>T c.(745-747)aCg>aTg p.T249M GBMLGG 16 2258824 2258824 + Silent SNP C C T TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 g.chr16:2258824C>T c.927C>T c.(925-927)ggC>ggT p.G309G HNSC 16 2256574 2256574 + Silent SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr16:2256574G>A c.258G>A c.(256-258)aaG>aaA p.K86K HNSC 16 2257314 2257314 + Missense_Mutation SNP G G A TCGA-CV-A45Y-01A-11D-A25D-08 TCGA-CV-A45Y-10A-01D-A25E-08 g.chr16:2257314G>A c.541G>A c.(541-543)Gac>Aac p.D181N HNSC 16 2258607 2258607 + Silent SNP C C T TCGA-CR-5243-01A-01D-1512-08 TCGA-CR-5243-10A-01D-1512-08 g.chr16:2258607C>T c.855C>T c.(853-855)atC>atT p.I285I KIPAN 16 2258565 2258565 + Silent SNP C C T TCGA-IZ-8195-01A-31D-2396-08 TCGA-IZ-8195-10A-01D-2396-08 g.chr16:2258565C>T c.813C>T c.(811-813)ggC>ggT p.G271G KIRP 16 2258565 2258565 + Silent SNP C C T TCGA-IZ-8195-01A-31D-2396-08 TCGA-IZ-8195-10A-01D-2396-08 g.chr16:2258565C>T c.813C>T c.(811-813)ggC>ggT p.G271G LGG 16 2258236 2258236 + Missense_Mutation SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:2258236C>T c.599C>T c.(598-600)aCg>aTg p.T200M LGG 16 2258454 2258454 + Silent SNP C C T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:2258454C>T c.702C>T c.(700-702)ctC>ctT p.L234L LGG 16 2258498 2258498 + Missense_Mutation SNP C C T TCGA-TQ-A7RO-01A-11D-A33T-08 TCGA-TQ-A7RO-10A-01D-A33W-08 g.chr16:2258498C>T c.746C>T c.(745-747)aCg>aTg p.T249M LGG 16 2258824 2258824 + Silent SNP C C T TCGA-DU-A5TP-01A-11D-A289-08 TCGA-DU-A5TP-10A-01D-A289-08 g.chr16:2258824C>T c.927C>T c.(925-927)ggC>ggT p.G309G LIHC 16 2256124 2256124 + Missense_Mutation SNP T T C TCGA-MI-A75H-01A-11D-A32G-10 TCGA-MI-A75H-10A-01D-A32G-10 g.chr16:2256124T>C c.38T>C c.(37-39)gTc>gCc p.V13A LIHC 16 2257035 2257035 + Splice_Site SNP G G C TCGA-UB-A7MF-01A-11D-A33K-10 TCGA-UB-A7MF-10A-01D-A33K-10 g.chr16:2257035G>C c.e5-1 LIHC 16 2257268 2257268 + Silent SNP G G T TCGA-G3-A5SM-01A-12D-A28X-10 TCGA-G3-A5SM-10A-01D-A28X-10 g.chr16:2257268G>T c.495G>T c.(493-495)ctG>ctT p.L165L LUAD 16 2256185 2256185 + Silent SNP C C T TCGA-97-7938-01A-11D-2167-08 TCGA-97-7938-10A-01D-2167-08 g.chr16:2256185C>T c.99C>T c.(97-99)atC>atT p.I33I LUAD 16 2258236 2258236 + Missense_Mutation SNP C C T TCGA-86-8585-01A-11D-2393-08 TCGA-86-8585-10A-01D-2393-08 g.chr16:2258236C>T c.599C>T c.(598-600)aCg>aTg p.T200M LUAD 16 2258335 2258335 + Splice_Site SNP C C T TCGA-55-8096-01A-11D-2238-08 TCGA-55-8096-10A-01D-2238-08 g.chr16:2258335C>T c.698C>T c.(697-699)aCg>aTg p.T233M LUAD 16 2258828 2258828 + Missense_Mutation SNP C C T TCGA-67-6216-01A-11D-1753-08 TCGA-67-6216-10A-01D-1753-08 g.chr16:2258828C>T c.931C>T c.(931-933)Cac>Tac p.H311Y LUSC 16 2256502 2256502 + Silent SNP C C T TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 g.chr16:2256502C>T c.186C>T c.(184-186)taC>taT p.Y62Y LUSC 16 2257038 2257038 + Missense_Mutation SNP C C T TCGA-66-2785-01A-01D-1522-08 TCGA-66-2785-11A-01D-1522-08 g.chr16:2257038C>T c.347C>T c.(346-348)tCc>tTc p.S116F OV 16 2258832 2258832 + Missense_Mutation SNP A A G TCGA-13-0760-01A-01W-0372-09 TCGA-13-0760-10A-01W-0372-09 g.chr16:2258832A>G c.935A>G c.(934-936)cAg>cGg p.Q312R PAAD 16 2256400 2256400 + Silent SNP T T C TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr16:2256400T>C c.171T>C c.(169-171)atT>atC p.I57I PRAD 16 2257059 2257059 + Missense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr16:2257059G>A c.368G>A c.(367-369)cGg>cAg p.R123Q READ 16 2256574 2256574 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:2256574G>T c.258G>T c.(256-258)aaG>aaT p.K86N SARC 16 2258589 2258589 + Silent SNP G G A TCGA-QC-A7B5-01A-11D-A33E-09 TCGA-QC-A7B5-11A-11D-A33H-09 g.chr16:2258589G>A c.837G>A c.(835-837)tcG>tcA p.S279S SKCM 16 2257060 2257060 + Silent SNP G G A TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr16:2257060G>A c.369G>A c.(367-369)cgG>cgA p.R123R SKCM 16 2258787 2258787 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr16:2258787G>A c.890G>A c.(889-891)tGg>tAg p.W297* SKCM 16 2258788 2258788 + Nonsense_Mutation SNP G G A TCGA-FS-A1ZZ-06A-11D-A197-08 TCGA-FS-A1ZZ-10A-01D-A199-08 g.chr16:2258788G>A c.891G>A c.(889-891)tgG>tgA p.W297*

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 16 2260206 2260206 single base substitution A G downstream_gene_variant BLCA-CN 16 2263949 2263949 single base substitution C T downstream_gene_variant BLCA-US 16 2256159 2256159 single base substitution C G downstream_gene_variant BLCA-US 16 2256159 2256159 single base substitution C G exon_variant BLCA-US 16 2256159 2256159 single base substitution C G missense_variant R25G 73C>G BLCA-US 16 2256159 2256159 single base substitution C G missense_variant R44G 130C>G BLCA-US 16 2256159 2256159 single base substitution C G upstream_gene_variant BLCA-US 16 2256193 2256193 single base substitution G A downstream_gene_variant BLCA-US 16 2256193 2256193 single base substitution G A exon_variant BLCA-US 16 2256193 2256193 single base substitution G A missense_variant R36Q 107G>A BLCA-US 16 2256193 2256193 single base substitution G A missense_variant R55Q 164G>A BLCA-US 16 2256193 2256193 single base substitution G A upstream_gene_variant BOCA-FR 16 2249956 2249956 single base substitution C A upstream_gene_variant BRCA-EU 16 2249905 2249905 single base substitution G T upstream_gene_variant BRCA-EU 16 2251176 2251176 single base substitution C G upstream_gene_variant BRCA-EU 16 2251679 2251679 single base substitution G C upstream_gene_variant BRCA-EU 16 2252213 2252213 single base substitution C A upstream_gene_variant BRCA-EU 16 2254055 2254055 single base substitution C T upstream_gene_variant BRCA-EU 16 2254074 2254074 single base substitution C G upstream_gene_variant BRCA-EU 16 2254670 2254670 single base substitution G C 5_prime_UTR_variant BRCA-EU 16 2254670 2254670 single base substitution G C exon_variant BRCA-EU 16 2254670 2254670 single base substitution G C intron_variant BRCA-EU 16 2254670 2254670 single base substitution G C upstream_gene_variant BRCA-EU 16 2254975 2254975 single base substitution T G intron_variant BRCA-EU 16 2254975 2254975 single base substitution T G upstream_gene_variant BRCA-EU 16 2255527 2255527 single base substitution G T downstream_gene_variant BRCA-EU 16 2255527 2255527 single base substitution G T exon_variant BRCA-EU 16 2255527 2255527 single base substitution G T intron_variant BRCA-EU 16 2255527 2255527 single base substitution G T upstream_gene_variant BRCA-EU 16 2256628 2256628 single base substitution C T 3_prime_UTR_variant BRCA-EU 16 2256628 2256628 single base substitution C T downstream_gene_variant BRCA-EU 16 2256628 2256628 single base substitution C T exon_variant BRCA-EU 16 2256628 2256628 single base substitution C T synonymous_variant G103G 309C>T BRCA-EU 16 2256628 2256628 single base substitution C T synonymous_variant G104G 312C>T BRCA-EU 16 2256628 2256628 single base substitution C T synonymous_variant G110G 330C>T BRCA-EU 16 2256628 2256628 single base substitution C T synonymous_variant G123G 369C>T BRCA-EU 16 2256628 2256628 single base substitution C T upstream_gene_variant BRCA-EU 16 2259038 2259038 single base substitution T A 3_prime_UTR_variant BRCA-EU 16 2259038 2259038 single base substitution T A downstream_gene_variant BRCA-EU 16 2259038 2259038 single base substitution T A exon_variant BRCA-EU 16 2259391 2259391 single base substitution G C 3_prime_UTR_variant BRCA-EU 16 2259391 2259391 single base substitution G C downstream_gene_variant BRCA-EU 16 2259391 2259391 single base substitution G C exon_variant BRCA-EU 16 2259562 2259562 single base substitution C T downstream_gene_variant BRCA-EU 16 2260433 2260433 single base substitution C T downstream_gene_variant BRCA-EU 16 2262653 2262653 single base substitution G C downstream_gene_variant BRCA-EU 16 2262792 2262792 single base substitution A G downstream_gene_variant BRCA-EU 16 2262897 2262897 single base substitution G T downstream_gene_variant BRCA-EU 16 2262898 2262898 single base substitution C T downstream_gene_variant BRCA-EU 16 2263215 2263215 single base substitution C A downstream_gene_variant BRCA-EU 16 2263331 2263334 deletion of <=200bp TCAG - downstream_gene_variant BRCA-FR 16 2251679 2251679 single base substitution G C upstream_gene_variant BRCA-FR 16 2263215 2263215 single base substitution C A downstream_gene_variant BRCA-US 16 2258236 2258236 insertion of <=200bp - G 3_prime_UTR_variant BRCA-US 16 2258236 2258236 insertion of <=200bp - G downstream_gene_variant BRCA-US 16 2258236 2258236 insertion of <=200bp - G exon_variant BRCA-US 16 2258236 2258236 insertion of <=200bp - G frameshift_variant T199S? BRCA-US 16 2258236 2258236 insertion of <=200bp - G frameshift_variant T200S? BRCA-US 16 2258236 2258236 insertion of <=200bp - G frameshift_variant T206S? BRCA-US 16 2258236 2258236 insertion of <=200bp - G intron_variant BRCA-US 16 2260649 2260649 single base substitution C T downstream_gene_variant BTCA-JP 16 2257219 2257219 single base substitution G A 3_prime_UTR_variant BTCA-JP 16 2257219 2257219 single base substitution G A downstream_gene_variant BTCA-JP 16 2257219 2257219 single base substitution G A exon_variant BTCA-JP 16 2257219 2257219 single base substitution G A missense_variant S148N 443G>A BTCA-JP 16 2257219 2257219 single base substitution G A missense_variant S149N 446G>A BTCA-JP 16 2257219 2257219 single base substitution G A missense_variant S155N 464G>A BTCA-JP 16 2257219 2257219 single base substitution G A missense_variant S168N 503G>A BTCA-JP 16 2257219 2257219 single base substitution G A upstream_gene_variant BTCA-JP 16 2258192 2258192 single base substitution C T downstream_gene_variant BTCA-JP 16 2258192 2258192 single base substitution C T exon_variant BTCA-JP 16 2258192 2258192 single base substitution C T intron_variant BTCA-JP 16 2258563 2258563 single base substitution G A 3_prime_UTR_variant BTCA-JP 16 2258563 2258563 single base substitution G A downstream_gene_variant BTCA-JP 16 2258563 2258563 single base substitution G A exon_variant BTCA-JP 16 2258563 2258563 single base substitution G A missense_variant G270S 808G>A BTCA-JP 16 2258563 2258563 single base substitution G A missense_variant G271S 811G>A BTCA-JP 16 2259623 2259623 single base substitution C T downstream_gene_variant BTCA-JP 16 2260251 2260251 single base substitution G A downstream_gene_variant BTCA-JP 16 2260806 2260806 single base substitution C T downstream_gene_variant BTCA-JP 16 2263693 2263693 deletion of <=200bp T - downstream_gene_variant CESC-US 16 2256404 2256404 single base substitution G T downstream_gene_variant CESC-US 16 2256404 2256404 single base substitution G T exon_variant CESC-US 16 2256404 2256404 single base substitution G T missense_variant A58S 172G>T CESC-US 16 2256404 2256404 single base substitution G T missense_variant A59S 175G>T CESC-US 16 2256404 2256404 single base substitution G T missense_variant A78S 232G>T CESC-US 16 2256404 2256404 single base substitution G T upstream_gene_variant CESC-US 16 2259503 2259503 single base substitution C G downstream_gene_variant CESC-US 16 2259701 2259701 single base substitution C T downstream_gene_variant COAD-US 16 2256088 2256088 single base substitution T C downstream_gene_variant COAD-US 16 2256088 2256088 single base substitution T C exon_variant COAD-US 16 2256088 2256088 single base substitution T C missense_variant M20T 59T>C COAD-US 16 2256088 2256088 single base substitution T C start_lost M1T 2T>C COAD-US 16 2256088 2256088 single base substitution T C upstream_gene_variant COAD-US 16 2257105 2257105 single base substitution C G 3_prime_UTR_variant COAD-US 16 2257105 2257105 single base substitution C G downstream_gene_variant COAD-US 16 2257105 2257105 single base substitution C G exon_variant COAD-US 16 2257105 2257105 single base substitution C G intron_variant COAD-US 16 2257105 2257105 single base substitution C G synonymous_variant P137P 411C>G COAD-US 16 2257105 2257105 single base substitution C G synonymous_variant P138P 414C>G COAD-US 16 2257105 2257105 single base substitution C G synonymous_variant P144P 432C>G COAD-US 16 2257105 2257105 single base substitution C G synonymous_variant P157P 471C>G COAD-US 16 2257105 2257105 single base substitution C G upstream_gene_variant COAD-US 16 2259393 2259393 single base substitution C G 3_prime_UTR_variant COAD-US 16 2259393 2259393 single base substitution C G downstream_gene_variant COAD-US 16 2259393 2259393 single base substitution C G exon_variant COAD-US 16 2260025 2260025 single base substitution G A downstream_gene_variant COAD-US 16 2260149 2260149 single base substitution G A downstream_gene_variant COAD-US 16 2260567 2260567 single base substitution C T downstream_gene_variant COAD-US 16 2260588 2260588 single base substitution G C downstream_gene_variant COAD-US 16 2260612 2260612 single base substitution T C downstream_gene_variant COCA-CN 16 2257031 2257031 single base substitution C T downstream_gene_variant COCA-CN 16 2257031 2257031 single base substitution C T intron_variant COCA-CN 16 2257031 2257031 single base substitution C T splice_region_variant COCA-CN 16 2257031 2257031 single base substitution C T upstream_gene_variant COCA-CN 16 2257139 2257139 single base substitution C A downstream_gene_variant COCA-CN 16 2257139 2257139 single base substitution C A intron_variant COCA-CN 16 2257139 2257139 single base substitution C A upstream_gene_variant COCA-CN 16 2259974 2259974 single base substitution G A downstream_gene_variant COCA-CN 16 2263907 2263907 single base substitution T C downstream_gene_variant COCA-CN 16 2264022 2264022 single base substitution C T downstream_gene_variant ESAD-UK 16 2251065 2251065 single base substitution C T upstream_gene_variant ESAD-UK 16 2251611 2251611 deletion of <=200bp T - upstream_gene_variant ESAD-UK 16 2254459 2254459 single base substitution A C intron_variant ESAD-UK 16 2254459 2254459 single base substitution A C upstream_gene_variant ESAD-UK 16 2259854 2259854 single base substitution C A downstream_gene_variant ESAD-UK 16 2260148 2260148 single base substitution C T downstream_gene_variant ESAD-UK 16 2263063 2263063 single base substitution T C downstream_gene_variant ESAD-UK 16 2263783 2263783 single base substitution G A downstream_gene_variant ESCA-CN 16 2259973 2259973 single base substitution C T downstream_gene_variant GBM-US 16 2256651 2256651 deletion of <=200bp G - 3_prime_UTR_variant GBM-US 16 2256651 2256651 deletion of <=200bp G - downstream_gene_variant GBM-US 16 2256651 2256651 deletion of <=200bp G - exon_variant GBM-US 16 2256651 2256651 deletion of <=200bp G - frameshift_variant W111 GBM-US 16 2256651 2256651 deletion of <=200bp G - frameshift_variant W112 GBM-US 16 2256651 2256651 deletion of <=200bp G - frameshift_variant W118 GBM-US 16 2256651 2256651 deletion of <=200bp G - frameshift_variant W131 GBM-US 16 2256651 2256651 deletion of <=200bp G - upstream_gene_variant GBM-US 16 2263929 2263929 single base substitution C A downstream_gene_variant KIRP-US 16 2258565 2258565 single base substitution C T 3_prime_UTR_variant KIRP-US 16 2258565 2258565 single base substitution C T downstream_gene_variant KIRP-US 16 2258565 2258565 single base substitution C T exon_variant KIRP-US 16 2258565 2258565 single base substitution C T synonymous_variant G270G 810C>T KIRP-US 16 2258565 2258565 single base substitution C T synonymous_variant G271G 813C>T LAML-KR 16 2251242 2251242 single base substitution C T upstream_gene_variant LICA-CN 16 2264266 2264266 single base substitution G T downstream_gene_variant LICA-FR 16 2257103 2257117 deletion of <=200bp CCCAACCAGGTGAGG - downstream_gene_variant LICA-FR 16 2257103 2257117 deletion of <=200bp CCCAACCAGGTGAGG - intron_variant LICA-FR 16 2257103 2257117 deletion of <=200bp CCCAACCAGGTGAGG - splice_donor_variant LICA-FR 16 2257103 2257117 deletion of <=200bp CCCAACCAGGTGAGG - upstream_gene_variant LICA-FR 16 2260170 2260170 single base substitution G A downstream_gene_variant LICA-FR 16 2263994 2263994 single base substitution C T downstream_gene_variant LIHC-US 16 2256103 2256103 single base substitution G C downstream_gene_variant LIHC-US 16 2256103 2256103 single base substitution G C exon_variant LIHC-US 16 2256103 2256103 single base substitution G C missense_variant G25A 74G>C LIHC-US 16 2256103 2256103 single base substitution G C missense_variant G6A 17G>C LIHC-US 16 2256103 2256103 single base substitution G C upstream_gene_variant LIHC-US 16 2256124 2256124 single base substitution T C downstream_gene_variant LIHC-US 16 2256124 2256124 single base substitution T C exon_variant LIHC-US 16 2256124 2256124 single base substitution T C missense_variant V13A 38T>C LIHC-US 16 2256124 2256124 single base substitution T C missense_variant V32A 95T>C LIHC-US 16 2256124 2256124 single base substitution T C upstream_gene_variant LIHC-US 16 2257035 2257035 single base substitution G C downstream_gene_variant LIHC-US 16 2257035 2257035 single base substitution G C intron_variant LIHC-US 16 2257035 2257035 single base substitution G C splice_acceptor_variant LIHC-US 16 2257035 2257035 single base substitution G C upstream_gene_variant LIHC-US 16 2257268 2257268 single base substitution G T 3_prime_UTR_variant LIHC-US 16 2257268 2257268 single base substitution G T downstream_gene_variant LIHC-US 16 2257268 2257268 single base substitution G T exon_variant LIHC-US 16 2257268 2257268 single base substitution G T synonymous_variant L164L 492G>T LIHC-US 16 2257268 2257268 single base substitution G T synonymous_variant L165L 495G>T LIHC-US 16 2257268 2257268 single base substitution G T synonymous_variant L171L 513G>T LIHC-US 16 2257268 2257268 single base substitution G T synonymous_variant L184L 552G>T LIHC-US 16 2257268 2257268 single base substitution G T upstream_gene_variant LIHC-US 16 2263817 2263817 single base substitution T A downstream_gene_variant LIHC-US 16 2264015 2264015 single base substitution T C downstream_gene_variant LINC-JP 16 2250292 2250292 single base substitution T G upstream_gene_variant LINC-JP 16 2253229 2253229 single base substitution G T upstream_gene_variant LINC-JP 16 2256010 2256010 single base substitution T C downstream_gene_variant LINC-JP 16 2256010 2256010 single base substitution T C exon_variant LINC-JP 16 2256010 2256010 single base substitution T C intron_variant LINC-JP 16 2256010 2256010 single base substitution T C upstream_gene_variant LINC-JP 16 2256023 2256023 single base substitution T G downstream_gene_variant LINC-JP 16 2256023 2256023 single base substitution T G exon_variant LINC-JP 16 2256023 2256023 single base substitution T G intron_variant LINC-JP 16 2256023 2256023 single base substitution T G upstream_gene_variant LINC-JP 16 2263069 2263069 single base substitution G T downstream_gene_variant LINC-JP 16 2264226 2264226 single base substitution G A downstream_gene_variant LIRI-JP 16 2250777 2250777 single base substitution C T upstream_gene_variant LIRI-JP 16 2252598 2252598 single base substitution C A upstream_gene_variant LIRI-JP 16 2256048 2256048 deletion of <=200bp C - 5_prime_UTR_variant LIRI-JP 16 2256048 2256048 deletion of <=200bp C - downstream_gene_variant LIRI-JP 16 2256048 2256048 deletion of <=200bp C - exon_variant LIRI-JP 16 2256048 2256048 deletion of <=200bp C - intron_variant LIRI-JP 16 2256048 2256048 deletion of <=200bp C - upstream_gene_variant LIRI-JP 16 2258327 2258327 single base substitution C T 3_prime_UTR_variant LIRI-JP 16 2258327 2258327 single base substitution C T downstream_gene_variant LIRI-JP 16 2258327 2258327 single base substitution C T exon_variant LIRI-JP 16 2258327 2258327 single base substitution C T intron_variant LIRI-JP 16 2258327 2258327 single base substitution C T synonymous_variant P229P 687C>T LIRI-JP 16 2258327 2258327 single base substitution C T synonymous_variant P230P 690C>T LIRI-JP 16 2258327 2258327 single base substitution C T synonymous_variant P236P 708C>T LIRI-JP 16 2259054 2259054 single base substitution T A 3_prime_UTR_variant LIRI-JP 16 2259054 2259054 single base substitution T A downstream_gene_variant LIRI-JP 16 2259054 2259054 single base substitution T A exon_variant LIRI-JP 16 2260461 2260461 single base substitution A G downstream_gene_variant LIRI-JP 16 2263765 2263765 single base substitution G A downstream_gene_variant LUSC-KR 16 2249522 2249522 single base substitution G T upstream_gene_variant LUSC-KR 16 2253496 2253496 single base substitution G T upstream_gene_variant LUSC-KR 16 2254224 2254224 single base substitution A G upstream_gene_variant LUSC-KR 16 2257374 2257374 single base substitution C T downstream_gene_variant LUSC-KR 16 2257374 2257374 single base substitution C T exon_variant LUSC-KR 16 2257374 2257374 single base substitution C T intron_variant LUSC-KR 16 2257374 2257374 single base substitution C T upstream_gene_variant LUSC-KR 16 2258790 2258790 single base substitution G T 3_prime_UTR_variant LUSC-KR 16 2258790 2258790 single base substitution G T downstream_gene_variant LUSC-KR 16 2258790 2258790 single base substitution G T exon_variant LUSC-KR 16 2258790 2258790 single base substitution G T missense_variant C297F 890G>T LUSC-KR 16 2258790 2258790 single base substitution G T missense_variant C298F 893G>T LUSC-KR 16 2259865 2259865 single base substitution C G downstream_gene_variant LUSC-US 16 2256502 2256502 single base substitution C T downstream_gene_variant LUSC-US 16 2256502 2256502 single base substitution C T exon_variant LUSC-US 16 2256502 2256502 single base substitution C T intron_variant LUSC-US 16 2256502 2256502 single base substitution C T synonymous_variant Y61Y 183C>T LUSC-US 16 2256502 2256502 single base substitution C T synonymous_variant Y62Y 186C>T LUSC-US 16 2256502 2256502 single base substitution C T synonymous_variant Y68Y 204C>T LUSC-US 16 2256502 2256502 single base substitution C T synonymous_variant Y81Y 243C>T LUSC-US 16 2256502 2256502 single base substitution C T upstream_gene_variant LUSC-US 16 2257038 2257038 single base substitution C T downstream_gene_variant LUSC-US 16 2257038 2257038 single base substitution C T intron_variant LUSC-US 16 2257038 2257038 single base substitution C T missense_variant S115F 344C>T LUSC-US 16 2257038 2257038 single base substitution C T missense_variant S116F 347C>T LUSC-US 16 2257038 2257038 single base substitution C T missense_variant S122F 365C>T LUSC-US 16 2257038 2257038 single base substitution C T missense_variant S135F 404C>T LUSC-US 16 2257038 2257038 single base substitution C T splice_region_variant LUSC-US 16 2257038 2257038 single base substitution C T upstream_gene_variant LUSC-US 16 2260557 2260557 single base substitution C G downstream_gene_variant MALY-DE 16 2249971 2249971 single base substitution C T upstream_gene_variant MALY-DE 16 2253062 2253062 single base substitution G A upstream_gene_variant MELA-AU 16 2249659 2249659 single base substitution C T upstream_gene_variant MELA-AU 16 2249660 2249660 single base substitution C T upstream_gene_variant MELA-AU 16 2249894 2249894 single base substitution C T upstream_gene_variant MELA-AU 16 2250608 2250608 single base substitution C T upstream_gene_variant MELA-AU 16 2251113 2251113 single base substitution G A upstream_gene_variant MELA-AU 16 2251533 2251533 single base substitution C T upstream_gene_variant MELA-AU 16 2251696 2251696 single base substitution C A upstream_gene_variant MELA-AU 16 2251720 2251720 single base substitution G A upstream_gene_variant MELA-AU 16 2251844 2251844 single base substitution G A upstream_gene_variant MELA-AU 16 2251929 2251929 single base substitution C T upstream_gene_variant MELA-AU 16 2252360 2252360 single base substitution C T upstream_gene_variant MELA-AU 16 2252469 2252469 single base substitution G T upstream_gene_variant MELA-AU 16 2252556 2252556 single base substitution G A upstream_gene_variant MELA-AU 16 2253007 2253007 single base substitution G A upstream_gene_variant MELA-AU 16 2253020 2253020 single base substitution G C upstream_gene_variant MELA-AU 16 2253116 2253116 single base substitution G A upstream_gene_variant MELA-AU 16 2253248 2253248 single base substitution C T upstream_gene_variant MELA-AU 16 2253514 2253514 single base substitution G A upstream_gene_variant MELA-AU 16 2253612 2253612 single base substitution A G upstream_gene_variant MELA-AU 16 2253995 2253995 single base substitution G A upstream_gene_variant MELA-AU 16 2254202 2254202 single base substitution A G upstream_gene_variant MELA-AU 16 2254589 2254589 single base substitution G A intron_variant MELA-AU 16 2254589 2254589 single base substitution G A upstream_gene_variant MELA-AU 16 2254697 2254697 deletion of <=200bp T - 5_prime_UTR_variant MELA-AU 16 2254697 2254697 deletion of <=200bp T - exon_variant MELA-AU 16 2254697 2254697 deletion of <=200bp T - intron_variant MELA-AU 16 2254697 2254697 deletion of <=200bp T - upstream_gene_variant MELA-AU 16 2254731 2254731 deletion of <=200bp T - 5_prime_UTR_variant MELA-AU 16 2254731 2254731 deletion of <=200bp T - exon_variant MELA-AU 16 2254731 2254731 deletion of <=200bp T - intron_variant MELA-AU 16 2254731 2254731 deletion of <=200bp T - upstream_gene_variant MELA-AU 16 2255276 2255276 single base substitution G A 5_prime_UTR_variant MELA-AU 16 2255276 2255276 single base substitution G A exon_variant MELA-AU 16 2255276 2255276 single base substitution G A intron_variant MELA-AU 16 2255276 2255276 single base substitution G A upstream_gene_variant MELA-AU 16 2255354 2255354 single base substitution G A 5_prime_UTR_variant MELA-AU 16 2255354 2255354 single base substitution G A exon_variant MELA-AU 16 2255354 2255354 single base substitution G A intron_variant MELA-AU 16 2255354 2255354 single base substitution G A upstream_gene_variant MELA-AU 16 2255508 2255508 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 16 2255508 2255508 single base substitution C T downstream_gene_variant MELA-AU 16 2255508 2255508 single base substitution C T exon_variant MELA-AU 16 2255508 2255508 single base substitution C T upstream_gene_variant MELA-AU 16 2256019 2256019 single base substitution T C downstream_gene_variant MELA-AU 16 2256019 2256019 single base substitution T C exon_variant MELA-AU 16 2256019 2256019 single base substitution T C intron_variant MELA-AU 16 2256019 2256019 single base substitution T C upstream_gene_variant MELA-AU 16 2258166 2258166 single base substitution G A downstream_gene_variant MELA-AU 16 2258166 2258166 single base substitution G A exon_variant MELA-AU 16 2258166 2258166 single base substitution G A intron_variant MELA-AU 16 2258372 2258372 single base substitution C T 3_prime_UTR_variant MELA-AU 16 2258372 2258372 single base substitution C T downstream_gene_variant MELA-AU 16 2258372 2258372 single base substitution C T exon_variant MELA-AU 16 2258372 2258372 single base substitution C T intron_variant MELA-AU 16 2258895 2258895 single base substitution A G 3_prime_UTR_variant MELA-AU 16 2258895 2258895 single base substitution A G downstream_gene_variant MELA-AU 16 2258895 2258895 single base substitution A G exon_variant MELA-AU 16 2259370 2259370 single base substitution G T 3_prime_UTR_variant MELA-AU 16 2259370 2259370 single base substitution G T downstream_gene_variant MELA-AU 16 2259370 2259370 single base substitution G T exon_variant MELA-AU 16 2259996 2259996 single base substitution C T downstream_gene_variant MELA-AU 16 2260008 2260008 single base substitution G A downstream_gene_variant MELA-AU 16 2260202 2260202 single base substitution G A downstream_gene_variant MELA-AU 16 2260630 2260630 single base substitution C A downstream_gene_variant MELA-AU 16 2260997 2260997 single base substitution T C downstream_gene_variant MELA-AU 16 2261459 2261459 single base substitution C T downstream_gene_variant MELA-AU 16 2262166 2262166 single base substitution G T downstream_gene_variant MELA-AU 16 2263183 2263183 single base substitution C T downstream_gene_variant MELA-AU 16 2263486 2263486 single base substitution G A downstream_gene_variant ORCA-IN 16 2253627 2253627 single base substitution C A upstream_gene_variant ORCA-IN 16 2257314 2257314 single base substitution G A 3_prime_UTR_variant ORCA-IN 16 2257314 2257314 single base substitution G A downstream_gene_variant ORCA-IN 16 2257314 2257314 single base substitution G A exon_variant ORCA-IN 16 2257314 2257314 single base substitution G A missense_variant D180N 538G>A ORCA-IN 16 2257314 2257314 single base substitution G A missense_variant D181N 541G>A ORCA-IN 16 2257314 2257314 single base substitution G A missense_variant D187N 559G>A ORCA-IN 16 2257314 2257314 single base substitution G A missense_variant D200N 598G>A ORCA-IN 16 2257314 2257314 single base substitution G A upstream_gene_variant ORCA-IN 16 2262430 2262430 single base substitution G A downstream_gene_variant OV-AU 16 2253754 2253754 single base substitution G T upstream_gene_variant OV-AU 16 2255152 2255152 single base substitution A G intron_variant OV-AU 16 2255152 2255152 single base substitution A G splice_acceptor_variant OV-AU 16 2255152 2255152 single base substitution A G upstream_gene_variant OV-AU 16 2260661 2260661 single base substitution C A downstream_gene_variant OV-AU 16 2264096 2264096 single base substitution C T downstream_gene_variant OV-US 16 2258832 2258832 single base substitution A G 3_prime_UTR_variant OV-US 16 2258832 2258832 single base substitution A G downstream_gene_variant OV-US 16 2258832 2258832 single base substitution A G exon_variant OV-US 16 2258832 2258832 single base substitution A G missense_variant Q311R 932A>G OV-US 16 2258832 2258832 single base substitution A G missense_variant Q312R 935A>G PACA-AU 16 2249517 2249517 single base substitution G A upstream_gene_variant PACA-AU 16 2251929 2251929 single base substitution C T upstream_gene_variant PACA-CA 16 2249382 2249382 single base substitution C T upstream_gene_variant PACA-CA 16 2249605 2249605 single base substitution G A upstream_gene_variant PACA-CA 16 2252788 2252788 single base substitution G A upstream_gene_variant PACA-CA 16 2254468 2254468 single base substitution C A intron_variant PACA-CA 16 2254468 2254468 single base substitution C A upstream_gene_variant PACA-CA 16 2255506 2255506 single base substitution C A 5_prime_UTR_variant PACA-CA 16 2255506 2255506 single base substitution C A downstream_gene_variant PACA-CA 16 2255506 2255506 single base substitution C A exon_variant PACA-CA 16 2255506 2255506 single base substitution C A upstream_gene_variant PACA-CA 16 2257313 2257313 single base substitution C T 3_prime_UTR_variant PACA-CA 16 2257313 2257313 single base substitution C T downstream_gene_variant PACA-CA 16 2257313 2257313 single base substitution C T exon_variant PACA-CA 16 2257313 2257313 single base substitution C T synonymous_variant P179P 537C>T PACA-CA 16 2257313 2257313 single base substitution C T synonymous_variant P180P 540C>T PACA-CA 16 2257313 2257313 single base substitution C T synonymous_variant P186P 558C>T PACA-CA 16 2257313 2257313 single base substitution C T synonymous_variant P199P 597C>T PACA-CA 16 2257313 2257313 single base substitution C T upstream_gene_variant PACA-CA 16 2258922 2258922 single base substitution G A 3_prime_UTR_variant PACA-CA 16 2258922 2258922 single base substitution G A downstream_gene_variant PACA-CA 16 2258922 2258922 single base substitution G A exon_variant PACA-CA 16 2259357 2259357 single base substitution G A 3_prime_UTR_variant PACA-CA 16 2259357 2259357 single base substitution G A downstream_gene_variant PACA-CA 16 2259357 2259357 single base substitution G A exon_variant PACA-CA 16 2259867 2259867 single base substitution G A downstream_gene_variant PACA-CA 16 2260446 2260446 single base substitution C G downstream_gene_variant PACA-CA 16 2260630 2260630 single base substitution C T downstream_gene_variant PACA-CA 16 2262548 2262548 single base substitution G A downstream_gene_variant PAEN-IT 16 2253581 2253581 single base substitution G A upstream_gene_variant PBCA-DE 16 2251394 2251394 insertion of <=200bp - GT upstream_gene_variant PBCA-DE 16 2251408 2251408 deletion of <=200bp T - upstream_gene_variant PBCA-DE 16 2254836 2254836 single base substitution G A 5_prime_UTR_variant PBCA-DE 16 2254836 2254836 single base substitution G A exon_variant PBCA-DE 16 2254836 2254836 single base substitution G A intron_variant PBCA-DE 16 2254836 2254836 single base substitution G A upstream_gene_variant PBCA-DE 16 2258481 2258481 single base substitution G C 3_prime_UTR_variant PBCA-DE 16 2258481 2258481 single base substitution G C downstream_gene_variant PBCA-DE 16 2258481 2258481 single base substitution G C exon_variant PBCA-DE 16 2258481 2258481 single base substitution G C synonymous_variant T242T 726G>C PBCA-DE 16 2258481 2258481 single base substitution G C synonymous_variant T243T 729G>C PBCA-DE 16 2258481 2258481 single base substitution G C synonymous_variant T249T 747G>C PBCA-DE 16 2262732 2262732 single base substitution T C downstream_gene_variant PRAD-UK 16 2255731 2255731 single base substitution C A downstream_gene_variant PRAD-UK 16 2255731 2255731 single base substitution C A exon_variant PRAD-UK 16 2255731 2255731 single base substitution C A intron_variant PRAD-UK 16 2255731 2255731 single base substitution C A upstream_gene_variant PRAD-UK 16 2257127 2257127 single base substitution G A downstream_gene_variant PRAD-UK 16 2257127 2257127 single base substitution G A intron_variant PRAD-UK 16 2257127 2257127 single base substitution G A upstream_gene_variant PRAD-UK 16 2257242 2257242 single base substitution T A 3_prime_UTR_variant PRAD-UK 16 2257242 2257242 single base substitution T A downstream_gene_variant PRAD-UK 16 2257242 2257242 single base substitution T A exon_variant PRAD-UK 16 2257242 2257242 single base substitution T A missense_variant L156M 466T>A PRAD-UK 16 2257242 2257242 single base substitution T A missense_variant L157M 469T>A PRAD-UK 16 2257242 2257242 single base substitution T A missense_variant L163M 487T>A PRAD-UK 16 2257242 2257242 single base substitution T A missense_variant L176M 526T>A PRAD-UK 16 2257242 2257242 single base substitution T A upstream_gene_variant PRAD-UK 16 2263251 2263251 single base substitution G A downstream_gene_variant PRAD-US 16 2259563 2259563 single base substitution G A downstream_gene_variant RECA-EU 16 2259393 2259393 single base substitution C G 3_prime_UTR_variant RECA-EU 16 2259393 2259393 single base substitution C G downstream_gene_variant RECA-EU 16 2259393 2259393 single base substitution C G exon_variant RECA-EU 16 2260269 2260269 single base substitution G A downstream_gene_variant RECA-EU 16 2263836 2263836 single base substitution C T downstream_gene_variant SKCA-BR 16 2249973 2249973 single base substitution G A upstream_gene_variant SKCA-BR 16 2250164 2250164 single base substitution C T upstream_gene_variant SKCA-BR 16 2252365 2252365 single base substitution G A upstream_gene_variant SKCA-BR 16 2254020 2254020 single base substitution C T upstream_gene_variant SKCA-BR 16 2255222 2255222 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCA-BR 16 2255222 2255222 single base substitution C T exon_variant SKCA-BR 16 2255222 2255222 single base substitution C T intron_variant SKCA-BR 16 2255222 2255222 single base substitution C T upstream_gene_variant SKCA-BR 16 2255356 2255356 single base substitution A C 5_prime_UTR_variant SKCA-BR 16 2255356 2255356 single base substitution A C exon_variant SKCA-BR 16 2255356 2255356 single base substitution A C intron_variant SKCA-BR 16 2255356 2255356 single base substitution A C upstream_gene_variant SKCA-BR 16 2255807 2255807 single base substitution G A 5_prime_UTR_variant SKCA-BR 16 2255807 2255807 single base substitution G A downstream_gene_variant SKCA-BR 16 2255807 2255807 single base substitution G A exon_variant SKCA-BR 16 2255807 2255807 single base substitution G A intron_variant SKCA-BR 16 2255807 2255807 single base substitution G A upstream_gene_variant SKCA-BR 16 2256054 2256054 single base substitution C T 5_prime_UTR_variant SKCA-BR 16 2256054 2256054 single base substitution C T downstream_gene_variant SKCA-BR 16 2256054 2256054 single base substitution C T exon_variant SKCA-BR 16 2256054 2256054 single base substitution C T splice_region_variant SKCA-BR 16 2256054 2256054 single base substitution C T upstream_gene_variant SKCA-BR 16 2258008 2258008 single base substitution C T 3_prime_UTR_variant SKCA-BR 16 2258008 2258008 single base substitution C T downstream_gene_variant SKCA-BR 16 2258008 2258008 single base substitution C T exon_variant SKCA-BR 16 2258008 2258008 single base substitution C T intron_variant SKCA-BR 16 2262925 2262925 insertion of <=200bp - CTGTT downstream_gene_variant SKCA-BR 16 2264344 2264344 single base substitution G C downstream_gene_variant SKCM-US 16 2257060 2257060 single base substitution G A 3_prime_UTR_variant SKCM-US 16 2257060 2257060 single base substitution G A downstream_gene_variant SKCM-US 16 2257060 2257060 single base substitution G A exon_variant SKCM-US 16 2257060 2257060 single base substitution G A intron_variant SKCM-US 16 2257060 2257060 single base substitution G A synonymous_variant R122R 366G>A SKCM-US 16 2257060 2257060 single base substitution G A synonymous_variant R123R 369G>A SKCM-US 16 2257060 2257060 single base substitution G A synonymous_variant R129R 387G>A SKCM-US 16 2257060 2257060 single base substitution G A synonymous_variant R142R 426G>A SKCM-US 16 2257060 2257060 single base substitution G A upstream_gene_variant SKCM-US 16 2257215 2257215 single base substitution C T 3_prime_UTR_variant SKCM-US 16 2257215 2257215 single base substitution C T downstream_gene_variant SKCM-US 16 2257215 2257215 single base substitution C T exon_variant SKCM-US 16 2257215 2257215 single base substitution C T stop_gained Q147* 439C>T SKCM-US 16 2257215 2257215 single base substitution C T stop_gained Q148* 442C>T SKCM-US 16 2257215 2257215 single base substitution C T stop_gained Q154* 460C>T SKCM-US 16 2257215 2257215 single base substitution C T stop_gained Q167* 499C>T SKCM-US 16 2257215 2257215 single base substitution C T upstream_gene_variant SKCM-US 16 2259370 2259370 single base substitution G T 3_prime_UTR_variant SKCM-US 16 2259370 2259370 single base substitution G T downstream_gene_variant SKCM-US 16 2259370 2259370 single base substitution G T exon_variant SKCM-US 16 2259598 2259598 single base substitution C T downstream_gene_variant SKCM-US 16 2260031 2260031 single base substitution C T downstream_gene_variant SKCM-US 16 2260586 2260588 deletion of <=200bp CAG - downstream_gene_variant SKCM-US 16 2260822 2260822 single base substitution T C downstream_gene_variant SKCM-US 16 2263819 2263819 single base substitution A C downstream_gene_variant SKCM-US 16 2264143 2264143 single base substitution G A downstream_gene_variant STAD-US 16 2256519 2256519 single base substitution A G downstream_gene_variant STAD-US 16 2256519 2256519 single base substitution A G exon_variant STAD-US 16 2256519 2256519 single base substitution A G intron_variant STAD-US 16 2256519 2256519 single base substitution A G missense_variant Y67C 200A>G STAD-US 16 2256519 2256519 single base substitution A G missense_variant Y68C 203A>G STAD-US 16 2256519 2256519 single base substitution A G missense_variant Y74C 221A>G STAD-US 16 2256519 2256519 single base substitution A G missense_variant Y87C 260A>G STAD-US 16 2256519 2256519 single base substitution A G upstream_gene_variant STAD-US 16 2256622 2256622 single base substitution G A 3_prime_UTR_variant STAD-US 16 2256622 2256622 single base substitution G A downstream_gene_variant STAD-US 16 2256622 2256622 single base substitution G A exon_variant STAD-US 16 2256622 2256622 single base substitution G A synonymous_variant T101T 303G>A STAD-US 16 2256622 2256622 single base substitution G A synonymous_variant T102T 306G>A STAD-US 16 2256622 2256622 single base substitution G A synonymous_variant T108T 324G>A STAD-US 16 2256622 2256622 single base substitution G A synonymous_variant T121T 363G>A STAD-US 16 2256622 2256622 single base substitution G A upstream_gene_variant STAD-US 16 2258236 2258236 single base substitution C T 3_prime_UTR_variant STAD-US 16 2258236 2258236 single base substitution C T downstream_gene_variant STAD-US 16 2258236 2258236 single base substitution C T exon_variant STAD-US 16 2258236 2258236 single base substitution C T intron_variant STAD-US 16 2258236 2258236 single base substitution C T missense_variant T199M 596C>T STAD-US 16 2258236 2258236 single base substitution C T missense_variant T200M 599C>T STAD-US 16 2258236 2258236 single base substitution C T missense_variant T206M 617C>T STAD-US 16 2258304 2258304 single base substitution G A 3_prime_UTR_variant STAD-US 16 2258304 2258304 single base substitution G A downstream_gene_variant STAD-US 16 2258304 2258304 single base substitution G A exon_variant STAD-US 16 2258304 2258304 single base substitution G A intron_variant STAD-US 16 2258304 2258304 single base substitution G A missense_variant A222T 664G>A STAD-US 16 2258304 2258304 single base substitution G A missense_variant A223T 667G>A STAD-US 16 2258304 2258304 single base substitution G A missense_variant A229T 685G>A STAD-US 16 2258499 2258499 single base substitution G A 3_prime_UTR_variant STAD-US 16 2258499 2258499 single base substitution G A downstream_gene_variant STAD-US 16 2258499 2258499 single base substitution G A exon_variant STAD-US 16 2258499 2258499 single base substitution G A synonymous_variant T248T 744G>A STAD-US 16 2258499 2258499 single base substitution G A synonymous_variant T249T 747G>A STAD-US 16 2258499 2258499 single base substitution G A synonymous_variant T255T 765G>A STAD-US 16 2258808 2258808 single base substitution T A 3_prime_UTR_variant STAD-US 16 2258808 2258808 single base substitution T A downstream_gene_variant STAD-US 16 2258808 2258808 single base substitution T A exon_variant STAD-US 16 2258808 2258808 single base substitution T A missense_variant I303N 908T>A STAD-US 16 2258808 2258808 single base substitution T A missense_variant I304N 911T>A STAD-US 16 2259579 2259579 deletion of <=200bp G - downstream_gene_variant STAD-US 16 2259973 2259973 single base substitution C T downstream_gene_variant STAD-US 16 2260149 2260149 single base substitution G A downstream_gene_variant STAD-US 16 2263803 2263803 single base substitution C T downstream_gene_variant THCA-SA 16 2259562 2259562 single base substitution C T downstream_gene_variant THCA-SA 16 2262093 2262093 single base substitution G A downstream_gene_variant THCA-SA 16 2262113 2262113 single base substitution G T downstream_gene_variant THCA-US 16 2260148 2260148 single base substitution C T downstream_gene_variant UCEC-US 16 2256534 2256534 single base substitution A C 3_prime_UTR_variant UCEC-US 16 2256534 2256534 single base substitution A C downstream_gene_variant UCEC-US 16 2256534 2256534 single base substitution A C exon_variant UCEC-US 16 2256534 2256534 single base substitution A C intron_variant UCEC-US 16 2256534 2256534 single base substitution A C missense_variant N72T 215A>C UCEC-US 16 2256534 2256534 single base substitution A C missense_variant N73T 218A>C UCEC-US 16 2256534 2256534 single base substitution A C missense_variant N79T 236A>C UCEC-US 16 2256534 2256534 single base substitution A C missense_variant N92T 275A>C UCEC-US 16 2256534 2256534 single base substitution A C upstream_gene_variant UCEC-US 16 2258336 2258336 single base substitution G A 3_prime_UTR_variant UCEC-US 16 2258336 2258336 single base substitution G A downstream_gene_variant UCEC-US 16 2258336 2258336 single base substitution G A exon_variant UCEC-US 16 2258336 2258336 single base substitution G A intron_variant UCEC-US 16 2258336 2258336 single base substitution G A splice_donor_variant UCEC-US 16 2258495 2258495 single base substitution G T 3_prime_UTR_variant UCEC-US 16 2258495 2258495 single base substitution G T downstream_gene_variant UCEC-US 16 2258495 2258495 single base substitution G T exon_variant UCEC-US 16 2258495 2258495 single base substitution G T missense_variant R247M 740G>T UCEC-US 16 2258495 2258495 single base substitution G T missense_variant R248M 743G>T UCEC-US 16 2258495 2258495 single base substitution G T missense_variant R254M 761G>T UCEC-US 16 2259444 2259444 single base substitution C T downstream_gene_variant UCEC-US 16 2259563 2259563 single base substitution G A downstream_gene_variant UCEC-US 16 2259672 2259672 single base substitution G A downstream_gene_variant UCEC-US 16 2260264 2260264 single base substitution G A downstream_gene_variant UCEC-US 16 2260805 2260805 single base substitution G A downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand C135 COSM4617643 c.510G>T p.E170D Substitution - Missense 16:2207282-2207282 + pfg143T COSM4748650 c.503A>G p.E168G Substitution - Missense 16:2207275-2207275 + TCGA-EB-A4IS-01 COSM3507686 c.442C>T p.Q148* Substitution - Nonsense 16:2207214-2207214 + I2L-P7-Tumor-Organoid COSM5363710 c.30T>C p.S10S Substitution - coding silent 16:2206115-2206115 + TCGA-BR-8360-01 COSM4059305 c.306G>A p.T102T Substitution - coding silent 16:2206621-2206621 + HCA7 COSM4630178 c.509A>C p.E170A Substitution - Missense 16:2207281-2207281 + 587332 COSM1215243 c.667G>A p.A223T Substitution - Missense 16:2208303-2208303 + T3724 COSM4702622 c.565A>G p.N189D Substitution - Missense 16:2207337-2207337 + SNU-C2B COSM3279124 c.600delG p.G202fs*6 Deletion - Frameshift 16:2208236-2208236 + T36 COSM4702618 c.344+1G>A p.? Unknown 16:2206660-2206660 + C058 COSM5525248 c.741G>A p.W247* Substitution - Nonsense 16:2208492-2208492 + TCGA-D1-A103-01 COSM968648 c.743G>T p.R248M Substitution - Missense 16:2208494-2208494 + BD49T COSM5498196 c.446G>A p.S149N Substitution - Missense 16:2207218-2207218 + TCGA-AG-3727-01 COSM5067223 c.599_600insG p.I203fs*3 Insertion - Frameshift 16:2208235-2208236 + TCGA-66-2785-01 COSM702275 c.347C>T p.S116F Substitution - Missense 16:2207037-2207037 + TCGA-34-5236-01 COSM702279 c.186C>T p.Y62Y Substitution - coding silent 16:2206501-2206501 + TCGA-D1-A16X-01 COSM968642 c.218A>C p.N73T Substitution - Missense 16:2206533-2206533 + TCGA-G3-A5SM-01 COSM4911203 c.495G>T p.L165L Substitution - coding silent 16:2207267-2207267 + PT49 COSM5943189 c.767_768insGGATG p.E257fs*4 Insertion - Frameshift 16:2208518-2208519 + 587224 COSM1215241 c.323C>T p.T108I Substitution - Missense 16:2206638-2206638 + TCGA-G3-A5SM-01 COSM4911204 c.495G>T p.L165L Substitution - coding silent 16:2207267-2207267 + TCGA-BL-A3JM-01 COSM1301742 c.73C>G p.R25G Substitution - Missense 16:2206158-2206158 + TCGA-BR-4257-01 COSM4059310 c.747G>A p.T249T Substitution - coding silent 16:2208498-2208498 + HCA7 COSM4630179 c.509A>C p.E170A Substitution - Missense 16:2207281-2207281 + TCGA-AZ-4615-01 COSM3754791 c.414C>G p.P138P Substitution - coding silent 16:2207104-2207104 + MOLT-4 COSM1678771 c.265G>A p.A89T Substitution - Missense 16:2206580-2206580 + SJLGG011 COSM1716189 c.871C>T p.R291C Substitution - Missense 16:2208622-2208622 + ME029T COSM226772 c.223C>T p.P75S Substitution - Missense 16:2206538-2206538 + T1743 COSM4702615 c.300G>A p.M100I Substitution - Missense 16:2206615-2206615 + TCGA-F5-6465-01 COSM5079945 c.486C>T p.N162N Substitution - coding silent 16:2207258-2207258 + C135 COSM4617644 c.510G>T p.E170D Substitution - Missense 16:2207282-2207282 + TCGA-AG-A002-01 COSM262042 c.258G>T p.K86N Substitution - Missense 16:2206573-2206573 + TCGA-AM-5821-01 COSM3754791 c.414C>G p.P138P Substitution - coding silent 16:2207104-2207104 + OSCC-GB_00190111 COSM3711976 c.541G>A p.D181N Substitution - Missense 16:2207313-2207313 + BD165T COSM5506490 c.811G>A p.G271S Substitution - Missense 16:2208562-2208562 + TCGA-BR-4184-01 COSM1215244 c.667G>A p.A223T Substitution - Missense 16:2208303-2208303 + LUAD-YINHD COSM349161 c.333C>T p.I111I Substitution - coding silent 16:2206648-2206648 + TCGA-AA-3715-01 COSM269600 c.384C>T p.N128N Substitution - coding silent 16:2207074-2207074 + PT49 COSM5943190 c.767_768insGGATG p.E257fs*4 Insertion - Frameshift 16:2208518-2208519 + TCGA-34-5236-01 COSM702278 c.186C>T p.Y62Y Substitution - coding silent 16:2206501-2206501 + TCGA-BL-A3JM-01 COSM1301743 c.73C>G p.R25G Substitution - Missense 16:2206158-2206158 + TCGA-EE-A29B-06 COSM3507683 c.369G>A p.R123R Substitution - coding silent 16:2207059-2207059 + SJHGG010_D COSM4969094 c.649C>G p.P217A Substitution - Missense 16:2208285-2208285 + TCGA-EB-A4IS-01 COSM3507687 c.442C>T p.Q148* Substitution - Nonsense 16:2207214-2207214 + TCGA-AG-3727-01 COSM5067224 c.599_600insG p.I203fs*3 Insertion - Frameshift 16:2208235-2208236 + 19T COSM3711976 c.541G>A p.D181N Substitution - Missense 16:2207313-2207313 + QC2-39-T2 COSM5655772 c.254A>G p.N85S Substitution - Missense 16:2206569-2206569 + BD165T COSM5506491 c.811G>A p.G271S Substitution - Missense 16:2208562-2208562 + 11M COSM5576822 c.635C>T p.P212L Substitution - Missense 16:2208271-2208271 + TCGA-A6-5665-01 COSM1376671 c.2T>C p.M1T Substitution - Missense 16:2206087-2206087 + TCGA-IZ-8195-01 COSM3988339 c.813C>T p.G271G Substitution - coding silent 16:2208564-2208564 + TCGA-A8-A09I-01 COSM5067224 c.599_600insG p.I203fs*3 Insertion - Frameshift 16:2208235-2208236 + TCGA-A6-5665-01 COSM1376670 c.2T>C p.M1T Substitution - Missense 16:2206087-2206087 + PD11399a COSM5122955 c.312C>T p.G104G Substitution - coding silent 16:2206627-2206627 + TCGA-HU-A4GN-01 COSM4059307 c.599C>T p.T200M Substitution - Missense 16:2208235-2208235 + Pat_41_B COSM5850471 c.652G>A p.A218T Substitution - Missense 16:2208288-2208288 + TCGA-66-2785-01 COSM702276 c.347C>T p.S116F Substitution - Missense 16:2207037-2207037 + QC2-39-T2 COSM5655775 c.260A>G p.N87S Substitution - Missense 16:2206575-2206575 + SNU-175 COSM3279138 c.829G>A p.A277T Substitution - Missense 16:2208580-2208580 + TCGA-BR-8360-01 COSM4059304 c.306G>A p.T102T Substitution - coding silent 16:2206621-2206621 + SC_9047 COSM5556511 c.972C>G p.H324Q Substitution - Missense 16:2208723-2208723 + TCGA-DD-A114-01 COSM4925434 c.17G>C p.G6A Substitution - Missense 16:2206102-2206102 + 2492729 COSM5725815 c.128C>T p.S43F Substitution - Missense 16:2206213-2206213 + LUAD-YINHD COSM349160 c.333C>T p.I111I Substitution - coding silent 16:2206648-2206648 + SJLGG011 COSM1716190 c.871C>T p.R291C Substitution - Missense 16:2208622-2208622 + SNU-175 COSM3279139 c.829G>A p.A277T Substitution - Missense 16:2208580-2208580 + 102T COSM1237854 c.675G>T p.Q225H Substitution - Missense 16:2208311-2208311 + TCGA-DK-A2I1-01 COSM1301745 c.107G>A p.R36Q Substitution - Missense 16:2206192-2206192 + TCGA-AG-A002-01 COSM262040 c.258G>T p.K86N Substitution - Missense 16:2206573-2206573 + TCGA-D1-A16X-01 COSM968641 c.218A>C p.N73T Substitution - Missense 16:2206533-2206533 + 11M COSM5576821 c.635C>T p.P212L Substitution - Missense 16:2208271-2208271 + TCGA-BR-8363-01 COSM4059301 c.203A>G p.Y68C Substitution - Missense 16:2206518-2206518 + 19T COSM3711977 c.541G>A p.D181N Substitution - Missense 16:2207313-2207313 + TCGA-AP-A051-01 COSM968645 c.698+1G>A p.? Unknown 16:2208335-2208335 + RK176_C01 COSM3741844 c.690C>T p.P230P Substitution - coding silent 16:2208326-2208326 + pfg143T COSM4748651 c.503A>G p.E168G Substitution - Missense 16:2207275-2207275 + 102T COSM1237855 c.675G>T p.Q225H Substitution - Missense 16:2208311-2208311 + SJLGG011_D COSM1716190 c.871C>T p.R291C Substitution - Missense 16:2208622-2208622 + TCGA-C5-A7CH-01 COSM4837802 c.175G>T p.A59S Substitution - Missense 16:2206403-2206403 + TCGA-EE-A29B-06 COSM3507684 c.369G>A p.R123R Substitution - coding silent 16:2207059-2207059 + TCGA-UB-A7MF-01 COSM4918881 c.345-1G>C p.? Unknown 16:2207034-2207034 + I2L-P7-Tumor-Organoid COSM5363709 c.30T>C p.S10S Substitution - coding silent 16:2206115-2206115 + TCGA-AP-A051-01 COSM968644 c.698+1G>A p.? Unknown 16:2208335-2208335 + SJHGG010_D COSM4969093 c.649C>G p.P217A Substitution - Missense 16:2208285-2208285 + T1743 COSM4702614 c.300G>A p.M100I Substitution - Missense 16:2206615-2206615 + PD11399a COSM5122956 c.312C>T p.G104G Substitution - coding silent 16:2206627-2206627 + RK176_C01 COSM3741845 c.690C>T p.P230P Substitution - coding silent 16:2208326-2208326 + TCGA-D1-A103-01 COSM968647 c.743G>T p.R248M Substitution - Missense 16:2208494-2208494 + TCGA-DD-A114-01 COSM4925435 c.17G>C p.G6A Substitution - Missense 16:2206102-2206102 + TCGA-BR-4184-01 COSM1215243 c.667G>A p.A223T Substitution - Missense 16:2208303-2208303 + OSCC-GB_00190111 COSM3711977 c.541G>A p.D181N Substitution - Missense 16:2207313-2207313 + 587224 COSM1215240 c.323C>T p.T108I Substitution - Missense 16:2206638-2206638 + SNU-C2B COSM3279123 c.600delG p.G202fs*6 Deletion - Frameshift 16:2208236-2208236 + 8034291 COSM3387299 c.768G>C p.T256T Substitution - coding silent 16:2208519-2208519 + TCGA-IZ-8195-01 COSM3988338 c.813C>T p.G271G Substitution - coding silent 16:2208564-2208564 + 0045_CRUK_PC_0045_T1_DNA COSM5422139 c.469T>A p.L157M Substitution - Missense 16:2207241-2207241 + TCGA-F5-6465-01 COSM5079944 c.486C>T p.N162N Substitution - coding silent 16:2207258-2207258 + TCGA-MI-A75H-01 COSM4918321 c.38T>C p.V13A Substitution - Missense 16:2206123-2206123 + Pat_41_B COSM5850472 c.652G>A p.A218T Substitution - Missense 16:2208288-2208288 + T36 COSM4702619 c.344+1G>A p.? Unknown 16:2206660-2206660 + T3724 COSM4702623 c.565A>G p.N189D Substitution - Missense 16:2207337-2207337 + TCGA-DK-A2I1-01 COSM1301746 c.107G>A p.R36Q Substitution - Missense 16:2206192-2206192 + TCGA-C5-A7CH-01 COSM4837801 c.175G>T p.A59S Substitution - Missense 16:2206403-2206403 + MOLT-4 COSM1678770 c.265G>A p.A89T Substitution - Missense 16:2206580-2206580 + TCGA-BR-4257-01 COSM4059311 c.747G>A p.T249T Substitution - coding silent 16:2208498-2208498 + 0045_CRUK_PC_0045_T1_DNA COSM5422140 c.469T>A p.L157M Substitution - Missense 16:2207241-2207241 + SC_9047 COSM5556512 c.972C>G p.H324Q Substitution - Missense 16:2208723-2208723 + TCGA-AA-3715-01 COSM269598 c.384C>T p.N128N Substitution - coding silent 16:2207074-2207074 + 587332 COSM1215244 c.667G>A p.A223T Substitution - Missense 16:2208303-2208303 + SJLGG011_D COSM1716189 c.871C>T p.R291C Substitution - Missense 16:2208622-2208622 + BD49T COSM5498195 c.446G>A p.S149N Substitution - Missense 16:2207218-2207218 + TCGA-BR-8363-01 COSM4059302 c.203A>G p.Y68C Substitution - Missense 16:2206518-2206518 + QC2-39-T2 COSM5655776 c.260A>G p.N87S Substitution - Missense 16:2206575-2206575 + CHC1744T COSM5347375 c.412_420+6delCCCAACCAGGTGAGG p.? Unknown 16:2207102-2207116 + TCGA-UB-A7MF-01 COSM4918882 c.345-1G>C p.? Unknown 16:2207034-2207034 + TCGA-MI-A75H-01 COSM4918320 c.38T>C p.V13A Substitution - Missense 16:2206123-2206123 + QC2-39-T2 COSM5655771 c.254A>G p.N85S Substitution - Missense 16:2206569-2206569 + 8034291 COSM3387300 c.768G>C p.T256T Substitution - coding silent 16:2208519-2208519 + ME029T COSM226771 c.223C>T p.P75S Substitution - Missense 16:2206538-2206538 + 2492729 COSM5725816 c.128C>T p.S43F Substitution - Missense 16:2206213-2206213 + C058 COSM5525247 c.741G>A p.W247* Substitution - Nonsense 16:2208492-2208492 + TCGA-A8-A09I-01 COSM5067223 c.599_600insG p.I203fs*3 Insertion - Frameshift 16:2208235-2208236 + TCGA-HU-A4GN-01 COSM4059308 c.599C>T p.T200M Substitution - Missense 16:2208235-2208235 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.29203 16p13.3 612190 2413933|CGAP|BC001313|C/T|non-coding||1374|Validated; 2413933|CGAP|BC017119|C/T|non-coding||1385|Validated; 2413933|CGAP|BC052292|C/T|non-coding||1908|Validated; 2413933|CGAP|BC088354|C/T|non-coding||1402|Validated; 2413939|CGAP|BC001313|C/G|coding|Pro138Pro|494|Validated; 2413939|CGAP|BC017119|C/G|coding|Pro138Pro|505|Validated; 2413939|CGAP|BC052292|C/G|coding|Pro138Pro|1028|Validated; 2413939|CGAP|BC088354|C/G|coding|Pro138Pro|522|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.Q312R c.935A>G 16 2258832 OV C A Synonymous p.R295R c.883C>A 16 2258780 CM C G Missense p.I88M c.264C>G 16 2256580 HNSC C G Missense p.R25G c.73C>G 16 2256159 BLCA C T 3-UTRSNV . c.978+16C>T 16 2258891 STAD C T IntronicSNV . c.1-75C>T 16 2256012 ESCA C T Missense p.H311Y c.931C>T 16 2258828 LUAD C T Missense p.P75S c.223C>T 16 2256539 CM C T Missense p.T102M c.305C>T 16 2256621 GBM C T Synonymous p.I285I c.855C>T 16 2258607 HNSC C T Synonymous p.Y62Y c.186C>T 16 2256502 LUSC G A IntronicSNV . c.1-369G>A 16 2255718 PIA G A IntronicSNV . c.182-14G>A 16 2256484 CM G A Missense p.R36Q c.107G>A 16 2256193 BLCA G A Synonymous p.R123R c.369G>A 16 2257060 CM G A Synonymous p.T249T c.747G>A 16 2258499 STAD G - Frameshift p.D113Tfs*15 c.337delG 16 2256651 GBM GG AA Missense p.W297* c.890_891delinsAA 16 2258787 CM G T Synonymous p.T256T c.768G>T 16 2258520 STAD T A 3-UTRSNV . c.978+179T>A 16 2259054 HC