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 19 18684149 18684149 + Silent SNP C C T TCGA-CF-A47X-01A-31D-A23U-08 TCGA-CF-A47X-10A-01D-A23U-08 g.chr19:18684149C>T c.39C>T c.(37-39)atC>atT p.I13I BLCA 19 18684180 18684180 + Missense_Mutation SNP G G C TCGA-GC-A6I1-01A-12D-A31L-08 TCGA-GC-A6I1-10A-01D-A31J-08 g.chr19:18684180G>C c.70G>C c.(70-72)Gag>Cag p.E24Q BLCA 19 18684180 18684180 + Missense_Mutation SNP G G C TCGA-XF-AAMR-01A-31D-A42E-08 TCGA-XF-AAMR-10A-01D-A42H-08 g.chr19:18684180G>C c.70G>C c.(70-72)Gag>Cag p.E24Q BLCA 19 18684188 18684188 + Silent SNP C C G TCGA-DK-A2I4-01A-11D-A21A-08 TCGA-DK-A2I4-10A-01D-A21A-08 g.chr19:18684188C>G c.78C>G c.(76-78)gtC>gtG p.V26V BLCA 19 18684538 18684538 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr19:18684538C>T c.170C>T c.(169-171)tCa>tTa p.S57L BLCA 19 18684538 18684538 + Nonsense_Mutation SNP C C G TCGA-K4-A54R-01A-11D-A26M-08 TCGA-K4-A54R-10A-01D-A26K-08 g.chr19:18684538C>G c.170C>G c.(169-171)tCa>tGa p.S57* BLCA 19 18685771 18685771 + Missense_Mutation SNP G G A TCGA-KQ-A41P-01A-12D-A339-08 TCGA-KQ-A41P-10F-01D-A339-08 g.chr19:18685771G>A c.282G>A c.(280-282)atG>atA p.M94I BRCA 19 18685757 18685757 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 g.chr19:18685757A>T c.268A>T c.(268-270)Aac>Tac p.N90Y BRCA 19 18685883 18685883 + Missense_Mutation SNP C C T TCGA-E9-A1R4-01A-21D-A14G-09 TCGA-E9-A1R4-10A-01D-A14G-09 g.chr19:18685883C>T c.310C>T c.(310-312)Cac>Tac p.H104Y CESC 19 18684538 18684538 + Missense_Mutation SNP C C T TCGA-C5-A1MP-01A-11D-A14W-08 TCGA-C5-A1MP-10A-01D-A14W-08 g.chr19:18684538C>T c.170C>T c.(169-171)tCa>tTa p.S57L COAD 19 18684132 18684132 + Missense_Mutation SNP C C A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr19:18684132C>A c.22C>A c.(22-24)Ctc>Atc p.L8I COAD 19 18685701 18685701 + Missense_Mutation SNP T T C TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr19:18685701T>C c.212T>C c.(211-213)tTg>tCg p.L71S COAD 19 18685770 18685770 + Missense_Mutation SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr19:18685770T>C c.281T>C c.(280-282)aTg>aCg p.M94T COADREAD 19 18684132 18684132 + Missense_Mutation SNP C C A TCGA-CM-6162-01A-11D-1650-10 TCGA-CM-6162-10A-01D-1650-10 g.chr19:18684132C>A c.22C>A c.(22-24)Ctc>Atc p.L8I COADREAD 19 18685701 18685701 + Missense_Mutation SNP T T C TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr19:18685701T>C c.212T>C c.(211-213)tTg>tCg p.L71S COADREAD 19 18685770 18685770 + Missense_Mutation SNP T T C TCGA-AA-3715-01A-01W-0900-09 TCGA-AA-3715-10A-01W-0900-09 g.chr19:18685770T>C c.281T>C c.(280-282)aTg>aCg p.M94T GBM 19 18684123 18684123 + Missense_Mutation SNP G G C TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 g.chr19:18684123G>C c.13G>C c.(13-15)Gtg>Ctg p.V5L GBMLGG 19 18684123 18684123 + Missense_Mutation SNP G G C TCGA-28-2513-01A-01D-1494-08 TCGA-28-2513-10A-01D-1494-08 g.chr19:18684123G>C c.13G>C c.(13-15)Gtg>Ctg p.V5L HNSC 19 18684147 18684147 + Missense_Mutation SNP A A G TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 g.chr19:18684147A>G c.37A>G c.(37-39)Atc>Gtc p.I13V HNSC 19 18685871 18685871 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr19:18685871T>C c.298T>C c.(298-300)Tat>Cat p.Y100H HNSC 19 18685943 18685945 + In_Frame_Del DEL AAG AAG - TCGA-CN-6012-01A-11D-1683-08 TCGA-CN-6012-10A-01D-1683-08 g.chr19:18685943_18685945delAAG c.370_372delAAG c.(370-372)aagdel p.K126del KIPAN 19 18685757 18685757 + Missense_Mutation SNP A A T TCGA-B3-3926-01A-01D-1252-08 TCGA-B3-3926-11A-01D-1252-08 g.chr19:18685757A>T c.268A>T c.(268-270)Aac>Tac p.N90Y KIRP 19 18685757 18685757 + Missense_Mutation SNP A A T TCGA-B3-3926-01A-01D-1252-08 TCGA-B3-3926-11A-01D-1252-08 g.chr19:18685757A>T c.268A>T c.(268-270)Aac>Tac p.N90Y LIHC 19 18684552 18684552 + Nonsense_Mutation SNP C C T TCGA-G3-AAV6-01A-21D-A36X-10 TCGA-G3-AAV6-10A-01D-A370-10 g.chr19:18684552C>T c.184C>T c.(184-186)Cag>Tag p.Q62* LUAD 19 18684139 18684139 + Missense_Mutation SNP G G A TCGA-78-7150-01A-21D-2036-08 TCGA-78-7150-10A-01D-2036-08 g.chr19:18684139G>A c.29G>A c.(28-30)gGc>gAc p.G10D OV 19 18684529 18684529 + Missense_Mutation SNP G G A TCGA-29-1693-01A-01W-0633-09 TCGA-29-1693-10A-01W-0633-09 g.chr19:18684529G>A c.161G>A c.(160-162)cGc>cAc p.R54H SKCM 19 18684476 18684476 + Silent SNP C C T TCGA-GN-A4U8-06A-11D-A32N-08 TCGA-GN-A4U8-10B-01D-A32N-08 g.chr19:18684476C>T c.108C>T c.(106-108)atC>atT p.I36I SKCM 19 18685735 18685735 + Silent SNP C C T TCGA-EE-A3JA-06A-11D-A20D-08 TCGA-EE-A3JA-10A-01D-A20D-08 g.chr19:18685735C>T c.246C>T c.(244-246)ctC>ctT p.L82L

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 19 18684102 18684102 single base substitution G A 5_prime_UTR_variant BLCA-US 19 18684102 18684102 single base substitution G A splice_acceptor_variant BLCA-US 19 18684102 18684102 single base substitution G A upstream_gene_variant BLCA-US 19 18684188 18684188 single base substitution C G exon_variant BLCA-US 19 18684188 18684188 single base substitution C G synonymous_variant V1V 3C>G BLCA-US 19 18684188 18684188 single base substitution C G synonymous_variant V26V 78C>G BLCA-US 19 18684188 18684188 single base substitution C G synonymous_variant V8V 24C>G BRCA-EU 19 18677885 18677885 single base substitution C T upstream_gene_variant BRCA-EU 19 18678492 18678492 single base substitution G T upstream_gene_variant BRCA-EU 19 18678740 18678740 single base substitution C G upstream_gene_variant BRCA-EU 19 18678913 18678913 single base substitution A G upstream_gene_variant BRCA-EU 19 18682168 18682168 single base substitution C T upstream_gene_variant BRCA-EU 19 18682617 18682617 single base substitution C A 5_prime_UTR_variant BRCA-EU 19 18682617 18682617 single base substitution C A upstream_gene_variant BRCA-EU 19 18683500 18683500 single base substitution G C intron_variant BRCA-EU 19 18683500 18683500 single base substitution G C upstream_gene_variant BRCA-EU 19 18684041 18684041 single base substitution G A intron_variant BRCA-EU 19 18684041 18684041 single base substitution G A upstream_gene_variant BRCA-EU 19 18685483 18685483 single base substitution G A downstream_gene_variant BRCA-EU 19 18685483 18685483 single base substitution G A intron_variant BRCA-EU 19 18686043 18686043 single base substitution G A 3_prime_UTR_variant BRCA-EU 19 18686043 18686043 single base substitution G A downstream_gene_variant BRCA-EU 19 18686043 18686043 single base substitution G A intron_variant BRCA-EU 19 18686648 18686648 single base substitution C T 3_prime_UTR_variant BRCA-EU 19 18686648 18686648 single base substitution C T downstream_gene_variant BRCA-EU 19 18686648 18686648 single base substitution C T intron_variant BRCA-EU 19 18687049 18687049 single base substitution G T 3_prime_UTR_variant BRCA-EU 19 18687049 18687049 single base substitution G T downstream_gene_variant BRCA-EU 19 18687049 18687049 single base substitution G T intron_variant BRCA-EU 19 18687076 18687076 single base substitution G A 3_prime_UTR_variant BRCA-EU 19 18687076 18687076 single base substitution G A downstream_gene_variant BRCA-EU 19 18687076 18687076 single base substitution G A intron_variant BRCA-EU 19 18687836 18687836 single base substitution G C 3_prime_UTR_variant BRCA-EU 19 18687836 18687836 single base substitution G C downstream_gene_variant BRCA-EU 19 18689812 18689812 single base substitution G T downstream_gene_variant BRCA-EU 19 18690040 18690040 single base substitution A C downstream_gene_variant BRCA-EU 19 18691799 18691799 single base substitution G A downstream_gene_variant BRCA-EU 19 18691886 18691886 single base substitution G C downstream_gene_variant BRCA-EU 19 18692616 18692616 single base substitution G C downstream_gene_variant BRCA-EU 19 18693360 18693360 single base substitution C T downstream_gene_variant BRCA-FR 19 18678740 18678740 single base substitution C G upstream_gene_variant BRCA-FR 19 18683500 18683500 single base substitution G C intron_variant BRCA-FR 19 18683500 18683500 single base substitution G C upstream_gene_variant BRCA-FR 19 18686043 18686043 single base substitution G A 3_prime_UTR_variant BRCA-FR 19 18686043 18686043 single base substitution G A downstream_gene_variant BRCA-FR 19 18686043 18686043 single base substitution G A intron_variant BRCA-FR 19 18689812 18689812 single base substitution G T downstream_gene_variant BRCA-UK 19 18685630 18685630 single base substitution G A downstream_gene_variant BRCA-UK 19 18685630 18685630 single base substitution G A intron_variant BRCA-UK 19 18688219 18688219 single base substitution C T 3_prime_UTR_variant BRCA-UK 19 18688219 18688219 single base substitution C T downstream_gene_variant BRCA-UK 19 18691886 18691886 single base substitution G C downstream_gene_variant BRCA-US 19 18679394 18679394 single base substitution A T upstream_gene_variant BRCA-US 19 18685757 18685757 single base substitution A T downstream_gene_variant BRCA-US 19 18685757 18685757 single base substitution A T missense_variant N65Y 193A>T BRCA-US 19 18685757 18685757 single base substitution A T missense_variant N72Y 214A>T BRCA-US 19 18685757 18685757 single base substitution A T missense_variant N90Y 268A>T BRCA-US 19 18685883 18685883 single base substitution C T downstream_gene_variant BRCA-US 19 18685883 18685883 single base substitution C T intron_variant BRCA-US 19 18685883 18685883 single base substitution C T missense_variant H104Y 310C>T BRCA-US 19 18685883 18685883 single base substitution C T missense_variant H114Y 340C>T BTCA-JP 19 18684534 18684534 single base substitution C T exon_variant BTCA-JP 19 18684534 18684534 single base substitution C T missense_variant L31F 91C>T BTCA-JP 19 18684534 18684534 single base substitution C T missense_variant L38F 112C>T BTCA-JP 19 18684534 18684534 single base substitution C T missense_variant L56F 166C>T BTCA-JP 19 18684562 18684562 single base substitution C T downstream_gene_variant BTCA-JP 19 18684562 18684562 single base substitution C T exon_variant BTCA-JP 19 18684562 18684562 single base substitution C T splice_region_variant CESC-US 19 18684538 18684538 single base substitution C T exon_variant CESC-US 19 18684538 18684538 single base substitution C T missense_variant S32L 95C>T CESC-US 19 18684538 18684538 single base substitution C T missense_variant S39L 116C>T CESC-US 19 18684538 18684538 single base substitution C T missense_variant S57L 170C>T COAD-US 19 18679351 18679351 single base substitution C T upstream_gene_variant COAD-US 19 18679377 18679377 single base substitution A C upstream_gene_variant COAD-US 19 18679379 18679379 single base substitution C G upstream_gene_variant COAD-US 19 18684132 18684132 single base substitution C A exon_variant COAD-US 19 18684132 18684132 single base substitution C A missense_variant L8I 22C>A COAD-US 19 18684132 18684132 single base substitution C A upstream_gene_variant COCA-CN 19 18685829 18685829 single base substitution G A downstream_gene_variant COCA-CN 19 18685829 18685829 single base substitution G A intron_variant COCA-CN 19 18685829 18685829 single base substitution G A missense_variant G96R 286G>A ESAD-UK 19 18682895 18682895 single base substitution G A 5_prime_UTR_variant ESAD-UK 19 18682895 18682895 single base substitution G A intron_variant ESAD-UK 19 18682895 18682895 single base substitution G A upstream_gene_variant ESAD-UK 19 18687368 18687368 single base substitution C T 3_prime_UTR_variant ESAD-UK 19 18687368 18687368 single base substitution C T downstream_gene_variant ESAD-UK 19 18687368 18687368 single base substitution C T intron_variant ESAD-UK 19 18690680 18690680 single base substitution G A downstream_gene_variant ESAD-UK 19 18692234 18692234 single base substitution G A downstream_gene_variant GBM-US 19 18684123 18684123 single base substitution G C exon_variant GBM-US 19 18684123 18684123 single base substitution G C missense_variant V5L 13G>C GBM-US 19 18684123 18684123 single base substitution G C upstream_gene_variant GBM-US 19 18684505 18684505 single base substitution C T exon_variant GBM-US 19 18684505 18684505 single base substitution C T missense_variant A21V 62C>T GBM-US 19 18684505 18684505 single base substitution C T missense_variant A28V 83C>T GBM-US 19 18684505 18684505 single base substitution C T missense_variant A46V 137C>T KIRP-US 19 18679377 18679377 single base substitution A T upstream_gene_variant LGG-US 19 18679431 18679431 single base substitution C T upstream_gene_variant LIRI-JP 19 18681740 18681740 single base substitution G T upstream_gene_variant LIRI-JP 19 18686021 18686021 single base substitution A G 3_prime_UTR_variant LIRI-JP 19 18686021 18686021 single base substitution A G downstream_gene_variant LIRI-JP 19 18686021 18686021 single base substitution A G intron_variant LIRI-JP 19 18686021 18686021 single base substitution A G missense_variant I109M 327A>G LIRI-JP 19 18687992 18687992 single base substitution G A 3_prime_UTR_variant LIRI-JP 19 18687992 18687992 single base substitution G A downstream_gene_variant LIRI-JP 19 18689185 18689185 single base substitution A G downstream_gene_variant LUSC-KR 19 18680028 18680028 single base substitution G A upstream_gene_variant LUSC-KR 19 18681127 18681127 single base substitution C T upstream_gene_variant LUSC-KR 19 18682144 18682144 single base substitution T C upstream_gene_variant LUSC-KR 19 18689683 18689683 single base substitution G C downstream_gene_variant LUSC-US 19 18679273 18679273 single base substitution G T upstream_gene_variant MALY-DE 19 18678336 18678336 single base substitution G A upstream_gene_variant MALY-DE 19 18682738 18682738 single base substitution G A 5_prime_UTR_variant MALY-DE 19 18682738 18682738 single base substitution G A intron_variant MALY-DE 19 18682738 18682738 single base substitution G A upstream_gene_variant MELA-AU 19 18677695 18677695 single base substitution C T upstream_gene_variant MELA-AU 19 18677940 18677940 single base substitution A G upstream_gene_variant MELA-AU 19 18678752 18678752 single base substitution T C upstream_gene_variant MELA-AU 19 18678860 18678860 single base substitution C A upstream_gene_variant MELA-AU 19 18678904 18678904 single base substitution C T upstream_gene_variant MELA-AU 19 18679192 18679192 single base substitution C T upstream_gene_variant MELA-AU 19 18679555 18679555 single base substitution C T upstream_gene_variant MELA-AU 19 18680097 18680097 single base substitution G A upstream_gene_variant MELA-AU 19 18680502 18680503 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 19 18681364 18681364 single base substitution C T upstream_gene_variant MELA-AU 19 18682505 18682505 single base substitution G A upstream_gene_variant MELA-AU 19 18682539 18682539 single base substitution C T upstream_gene_variant MELA-AU 19 18682573 18682573 single base substitution G A 5_prime_UTR_variant MELA-AU 19 18682573 18682573 single base substitution G A upstream_gene_variant MELA-AU 19 18682589 18682589 single base substitution G A 5_prime_UTR_variant MELA-AU 19 18682589 18682589 single base substitution G A upstream_gene_variant MELA-AU 19 18684294 18684294 single base substitution T C exon_variant MELA-AU 19 18684294 18684294 single base substitution T C intron_variant MELA-AU 19 18684527 18684527 single base substitution C T exon_variant MELA-AU 19 18684527 18684527 single base substitution C T synonymous_variant G28G 84C>T MELA-AU 19 18684527 18684527 single base substitution C T synonymous_variant G35G 105C>T MELA-AU 19 18684527 18684527 single base substitution C T synonymous_variant G53G 159C>T MELA-AU 19 18684709 18684709 single base substitution C T downstream_gene_variant MELA-AU 19 18684709 18684709 single base substitution C T intron_variant MELA-AU 19 18684709 18684710 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 19 18684709 18684710 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 19 18684855 18684855 single base substitution G A downstream_gene_variant MELA-AU 19 18684855 18684855 single base substitution G A intron_variant MELA-AU 19 18685568 18685568 single base substitution G T downstream_gene_variant MELA-AU 19 18685568 18685568 single base substitution G T intron_variant MELA-AU 19 18685837 18685837 single base substitution C T downstream_gene_variant MELA-AU 19 18685837 18685837 single base substitution C T intron_variant MELA-AU 19 18685837 18685837 single base substitution C T synonymous_variant C98C 294C>T MELA-AU 19 18686107 18686107 single base substitution C T 3_prime_UTR_variant MELA-AU 19 18686107 18686107 single base substitution C T downstream_gene_variant MELA-AU 19 18686107 18686107 single base substitution C T intron_variant MELA-AU 19 18686428 18686428 single base substitution C T 3_prime_UTR_variant MELA-AU 19 18686428 18686428 single base substitution C T downstream_gene_variant MELA-AU 19 18686428 18686428 single base substitution C T intron_variant MELA-AU 19 18686522 18686522 single base substitution C T 3_prime_UTR_variant MELA-AU 19 18686522 18686522 single base substitution C T downstream_gene_variant MELA-AU 19 18686522 18686522 single base substitution C T intron_variant MELA-AU 19 18687178 18687178 single base substitution G A 3_prime_UTR_variant MELA-AU 19 18687178 18687178 single base substitution G A downstream_gene_variant MELA-AU 19 18687178 18687178 single base substitution G A intron_variant MELA-AU 19 18687429 18687429 single base substitution C T 3_prime_UTR_variant MELA-AU 19 18687429 18687429 single base substitution C T downstream_gene_variant MELA-AU 19 18687429 18687429 single base substitution C T intron_variant MELA-AU 19 18687438 18687438 single base substitution A T 3_prime_UTR_variant MELA-AU 19 18687438 18687438 single base substitution A T downstream_gene_variant MELA-AU 19 18687438 18687438 single base substitution A T intron_variant MELA-AU 19 18687510 18687510 single base substitution C T 3_prime_UTR_variant MELA-AU 19 18687510 18687510 single base substitution C T downstream_gene_variant MELA-AU 19 18687510 18687510 single base substitution C T intron_variant MELA-AU 19 18687667 18687667 single base substitution A G 3_prime_UTR_variant MELA-AU 19 18687667 18687667 single base substitution A G downstream_gene_variant MELA-AU 19 18687667 18687667 single base substitution A G intron_variant MELA-AU 19 18689274 18689274 single base substitution C T downstream_gene_variant MELA-AU 19 18690130 18690130 single base substitution G C downstream_gene_variant MELA-AU 19 18690492 18690492 single base substitution C T downstream_gene_variant MELA-AU 19 18690800 18690800 single base substitution G A downstream_gene_variant MELA-AU 19 18691058 18691058 single base substitution C T downstream_gene_variant MELA-AU 19 18691642 18691642 single base substitution C G downstream_gene_variant MELA-AU 19 18691900 18691900 single base substitution C T downstream_gene_variant MELA-AU 19 18692294 18692294 single base substitution G A downstream_gene_variant MELA-AU 19 18692982 18692982 single base substitution G A downstream_gene_variant ORCA-IN 19 18685255 18685255 single base substitution C T downstream_gene_variant ORCA-IN 19 18685255 18685255 single base substitution C T intron_variant OV-AU 19 18679990 18679990 single base substitution C T upstream_gene_variant OV-AU 19 18682642 18682642 single base substitution A T 5_prime_UTR_variant OV-AU 19 18682642 18682642 single base substitution A T upstream_gene_variant OV-AU 19 18690127 18690127 single base substitution G A downstream_gene_variant OV-AU 19 18692976 18692976 single base substitution A C downstream_gene_variant PACA-AU 19 18684807 18684807 deletion of <=200bp A - downstream_gene_variant PACA-AU 19 18684807 18684807 deletion of <=200bp A - intron_variant PACA-AU 19 18686547 18686550 deletion of <=200bp TTTG - 3_prime_UTR_variant PACA-AU 19 18686547 18686550 deletion of <=200bp TTTG - downstream_gene_variant PACA-AU 19 18686547 18686550 deletion of <=200bp TTTG - intron_variant PACA-AU 19 18687165 18687165 deletion of <=200bp G - 3_prime_UTR_variant PACA-AU 19 18687165 18687165 deletion of <=200bp G - downstream_gene_variant PACA-AU 19 18687165 18687165 deletion of <=200bp G - intron_variant PACA-AU 19 18687169 18687169 single base substitution A C 3_prime_UTR_variant PACA-AU 19 18687169 18687169 single base substitution A C downstream_gene_variant PACA-AU 19 18687169 18687169 single base substitution A C intron_variant PACA-AU 19 18688303 18688303 single base substitution T G 3_prime_UTR_variant PACA-AU 19 18688303 18688303 single base substitution T G downstream_gene_variant PACA-AU 19 18689728 18689728 single base substitution C G downstream_gene_variant PACA-CA 19 18679478 18679478 single base substitution G T upstream_gene_variant PACA-CA 19 18685265 18685265 insertion of <=200bp - T downstream_gene_variant PACA-CA 19 18685265 18685265 insertion of <=200bp - T intron_variant PACA-CA 19 18687918 18687918 single base substitution C G 3_prime_UTR_variant PACA-CA 19 18687918 18687918 single base substitution C G downstream_gene_variant PACA-CA 19 18688169 18688169 single base substitution A G 3_prime_UTR_variant PACA-CA 19 18688169 18688169 single base substitution A G downstream_gene_variant PACA-CA 19 18688793 18688793 single base substitution C T downstream_gene_variant PACA-CA 19 18691687 18691687 single base substitution C T downstream_gene_variant PBCA-DE 19 18688514 18688514 single base substitution C T downstream_gene_variant PBCA-DE 19 18689904 18689904 single base substitution T C downstream_gene_variant PBCA-DE 19 18690536 18690536 single base substitution T C downstream_gene_variant PBCA-DE 19 18691938 18691938 single base substitution G A downstream_gene_variant PRAD-US 19 18679399 18679399 single base substitution C T upstream_gene_variant RECA-EU 19 18679154 18679154 single base substitution C T upstream_gene_variant RECA-EU 19 18685938 18685938 single base substitution G A downstream_gene_variant RECA-EU 19 18685938 18685938 single base substitution G A missense_variant R122H 365G>A RECA-EU 19 18685938 18685938 single base substitution G A missense_variant R132H 395G>A RECA-EU 19 18685938 18685938 single base substitution G A missense_variant V82I 244G>A RECA-EU 19 18691727 18691727 single base substitution A G downstream_gene_variant SKCA-BR 19 18679205 18679205 single base substitution C T upstream_gene_variant SKCA-BR 19 18679451 18679451 single base substitution C T upstream_gene_variant SKCA-BR 19 18679452 18679452 single base substitution C T upstream_gene_variant SKCA-BR 19 18681316 18681316 insertion of <=200bp - AC upstream_gene_variant SKCA-BR 19 18681318 18681318 single base substitution T C upstream_gene_variant SKCA-BR 19 18682556 18682556 single base substitution G A 5_prime_UTR_variant SKCA-BR 19 18682556 18682556 single base substitution G A upstream_gene_variant SKCA-BR 19 18682589 18682589 single base substitution G A 5_prime_UTR_variant SKCA-BR 19 18682589 18682589 single base substitution G A upstream_gene_variant SKCA-BR 19 18682721 18682721 single base substitution T G 5_prime_UTR_variant SKCA-BR 19 18682721 18682721 single base substitution T G intron_variant SKCA-BR 19 18682721 18682721 single base substitution T G splice_donor_variant SKCA-BR 19 18682721 18682721 single base substitution T G upstream_gene_variant SKCA-BR 19 18684880 18684880 single base substitution G A downstream_gene_variant SKCA-BR 19 18684880 18684880 single base substitution G A intron_variant SKCA-BR 19 18691711 18691711 single base substitution C A downstream_gene_variant SKCM-US 19 18677989 18677989 insertion of <=200bp - T upstream_gene_variant SKCM-US 19 18679325 18679325 single base substitution G A upstream_gene_variant SKCM-US 19 18679426 18679426 single base substitution G A upstream_gene_variant SKCM-US 19 18685735 18685735 single base substitution C T downstream_gene_variant SKCM-US 19 18685735 18685735 single base substitution C T synonymous_variant L57L 171C>T SKCM-US 19 18685735 18685735 single base substitution C T synonymous_variant L64L 192C>T SKCM-US 19 18685735 18685735 single base substitution C T synonymous_variant L82L 246C>T STAD-US 19 18684198 18684198 single base substitution A T exon_variant STAD-US 19 18684198 18684198 single base substitution A T missense_variant I12F 34A>T STAD-US 19 18684198 18684198 single base substitution A T missense_variant I30F 88A>T STAD-US 19 18684198 18684198 single base substitution A T missense_variant I5F 13A>T STAD-US 19 18684544 18684546 deletion of <=200bp ACA - exon_variant STAD-US 19 18684544 18684546 deletion of <=200bp ACA - inframe_deletion YN34Y STAD-US 19 18684544 18684546 deletion of <=200bp ACA - inframe_deletion YN41Y STAD-US 19 18684544 18684546 deletion of <=200bp ACA - inframe_deletion YN59Y THCA-SA 19 18682672 18682672 single base substitution T C 5_prime_UTR_variant THCA-SA 19 18682672 18682672 single base substitution T C exon_variant THCA-SA 19 18682672 18682672 single base substitution T C intron_variant THCA-SA 19 18682672 18682672 single base substitution T C upstream_gene_variant UCEC-US 19 18684492 18684492 single base substitution C G exon_variant UCEC-US 19 18684492 18684492 single base substitution C G missense_variant R17G 49C>G UCEC-US 19 18684492 18684492 single base substitution C G missense_variant R24G 70C>G UCEC-US 19 18684492 18684492 single base substitution C G missense_variant R42G 124C>G

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-29-1693-01 COSM1325391 c.161G>A p.R54H Substitution - Missense 19:18573719-18573719 + TCGA-AA-3715-01 COSM270486 c.281T>C p.M94T Substitution - Missense 19:18574960-18574960 + TCGA-28-2513-01 COSM3403963 c.13G>C p.V5L Substitution - Missense 19:18573313-18573313 + TCGA-28-5209-01 COSM3403964 c.137C>T p.A46V Substitution - Missense 19:18573695-18573695 + BD242T COSM5495966 c.166C>T p.L56F Substitution - Missense 19:18573724-18573724 + TCGA-EE-A3JA-06 COSM3530827 c.246C>T p.L82L Substitution - coding silent 19:18574925-18574925 + SNUH_G10_S1 COSM4000586 c.190+5C>T p.? Unknown 19:18573753-18573753 + C0021T COSM4154101 c.365G>A p.R122H Substitution - Missense 19:18575128-18575128 + TCGA-BR-8372-01 COSM4075703 c.88A>T p.I30F Substitution - Missense 19:18573388-18573388 + TCGA-DK-A2I4-01 COSM3796820 c.78C>G p.V26V Substitution - coding silent 19:18573378-18573378 + TCGA-BK-A0CB-01 COSM993124 c.124C>G p.R42G Substitution - Missense 19:18573682-18573682 + BD171T COSM5494812 c.190+4C>T p.? Unknown 19:18573752-18573752 + RKO COSM3100198 c.139G>A p.G47S Substitution - Missense 19:18573697-18573697 + 24 COSM4777865 c.224_225insG p.G76fs*4 Insertion - Frameshift 19:18574903-18574904 + TCGA-CM-6162-01 COSM1391700 c.22C>A p.L8I Substitution - Missense 19:18573322-18573322 + TCGA-E9-A1R4-01 COSM1480797 c.310C>T p.H104Y Substitution - Missense 19:18575073-18575073 + NCI-H835 COSM3100196 c.106A>C p.I36L Substitution - Missense 19:18573664-18573664 + TCGA-D8-A1XK-01 COSM3822364 c.268A>T p.N90Y Substitution - Missense 19:18574947-18574947 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.5308 19p13.1-p12 191321 2400573|CGAP|BC101830|C/T|coding|Leu43Leu|184|Candidate; 2400573|CGAP|BC101832|C/T|coding|Leu43Leu|184|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AAG - InFrameDeletion p.K126delK c.376_378delAAG 19 18685943 HNSC A G Missense p.I13V c.37A>G 19 18684147 HNSC C G Missense p.R42G c.124C>G 19 18684492 UCEC C G Synonymous p.V26V c.78C>G 19 18684188 BLCA C T Missense p.A46V c.137C>T 19 18684505 GBM C T Missense p.H104Y c.310C>T 19 18685883 BRCA C T Nonsense p.Q87* c.259C>T 19 18685748 CM C T Synonymous p.L82L c.246C>T 19 18685735 CM G A SpliceAcceptorSNV . c.1-9G>A 19 18684102 BLCA G C Missense p.V5L c.13G>C 19 18684123 GBM