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 12 108082573 108082573 + Missense_Mutation SNP G G A TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr12:108082573G>A c.313G>A c.(313-315)Gac>Aac p.D105N BLCA 12 108086623 108086623 + Missense_Mutation SNP C C G TCGA-ZF-A9RL-01A-11D-A38G-08 TCGA-ZF-A9RL-10A-01D-A38J-08 g.chr12:108086623C>G c.352C>G c.(352-354)Ctt>Gtt p.L118V BLCA 12 108098457 108098457 + Missense_Mutation SNP G G A TCGA-4Z-AA80-01A-11D-A391-08 TCGA-4Z-AA80-10A-01D-A394-08 g.chr12:108098457G>A c.1010G>A c.(1009-1011)cGa>cAa p.R337Q BLCA 12 108104198 108104198 + Missense_Mutation SNP C C T TCGA-E7-A6MD-01A-41D-A34U-08 TCGA-E7-A6MD-10B-01D-A34X-08 g.chr12:108104198C>T c.1307C>T c.(1306-1308)tCt>tTt p.S436F BRCA 12 108086667 108086667 + Silent SNP G G A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 g.chr12:108086667G>A c.396G>A c.(394-396)ctG>ctA p.L132L BRCA 12 108090359 108090359 + Missense_Mutation SNP C C T TCGA-EW-A1IZ-01A-11D-A188-09 TCGA-EW-A1IZ-10A-01D-A13O-09 g.chr12:108090359C>T c.611C>T c.(610-612)aCt>aTt p.T204I BRCA 12 108104257 108104257 + Missense_Mutation SNP C C T TCGA-AC-A3EH-01A-22D-A228-09 TCGA-AC-A3EH-11B-21D-A22A-09 g.chr12:108104257C>T c.1366C>T c.(1366-1368)Cgg>Tgg p.R456W CESC 12 108082489 108082489 + Missense_Mutation SNP G G A TCGA-C5-A3HE-01A-21D-A22X-09 TCGA-C5-A3HE-10A-01D-A22X-09 g.chr12:108082489G>A c.229G>A c.(229-231)Gag>Aag p.E77K CHOL 12 108097519 108097519 + Missense_Mutation SNP G G A TCGA-4G-AAZO-01A-12D-A417-09 TCGA-4G-AAZO-11A-11D-A41A-09 g.chr12:108097519G>A c.961G>A c.(961-963)Gat>Aat p.D321N COAD 12 108082252 108082252 + Missense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr12:108082252C>T c.100C>T c.(100-102)Cgc>Tgc p.R34C COAD 12 108082472 108082472 + Missense_Mutation SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr12:108082472G>A c.212G>A c.(211-213)cGc>cAc p.R71H COAD 12 108082511 108082511 + Missense_Mutation SNP A A G TCGA-AA-3543-01A-01W-0833-10 TCGA-AA-3543-10A-01W-0833-10 g.chr12:108082511A>G c.251A>G c.(250-252)gAc>gGc p.D84G COAD 12 108086790 108086790 + Frame_Shift_Del DEL G G - TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr12:108086790delG c.419delG c.(418-420)cgtfs p.R140fs COAD 12 108097519 108097519 + Missense_Mutation SNP G G A TCGA-AD-6890-01A-11D-1924-10 TCGA-AD-6890-10A-01D-1924-10 g.chr12:108097519G>A c.961G>A c.(961-963)Gat>Aat p.D321N COAD 12 108098436 108098436 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:108098436G>A c.989G>A c.(988-990)cGa>cAa p.R330Q COAD 12 108098456 108098456 + Nonsense_Mutation SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr12:108098456C>T c.1009C>T c.(1009-1011)Cga>Tga p.R337* COAD 12 108102886 108102886 + Splice_Site SNP A A T TCGA-DM-A1D7-01A-11D-A152-10 TCGA-DM-A1D7-10A-01D-A152-10 g.chr12:108102886A>T c.e13-1 COAD 12 108102936 108102936 + Missense_Mutation SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr12:108102936C>T c.1217C>T c.(1216-1218)gCt>gTt p.A406V COAD 12 108105908 108105908 + Nonsense_Mutation SNP C C T TCGA-AA-3855-01A-01W-0995-10 TCGA-AA-3855-10A-01W-0995-10 g.chr12:108105908C>T c.1417C>T c.(1417-1419)Cga>Tga p.R473* COAD 12 108105949 108105949 + Missense_Mutation SNP T T G TCGA-AA-3930-01A-01W-0995-10 TCGA-AA-3930-10A-01W-0995-10 g.chr12:108105949T>G c.1458T>G c.(1456-1458)atT>atG p.I486M COADREAD 12 108082252 108082252 + Missense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr12:108082252C>T c.100C>T c.(100-102)Cgc>Tgc p.R34C COADREAD 12 108082472 108082472 + Missense_Mutation SNP G G A TCGA-AA-3525-01A-02W-0833-10 TCGA-AA-3525-10A-01W-0833-10 g.chr12:108082472G>A c.212G>A c.(211-213)cGc>cAc p.R71H COADREAD 12 108082481 108082481 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:108082481A>G c.221A>G c.(220-222)gAg>gGg p.E74G COADREAD 12 108082511 108082511 + Missense_Mutation SNP A A G TCGA-AA-3543-01A-01W-0833-10 TCGA-AA-3543-10A-01W-0833-10 g.chr12:108082511A>G c.251A>G c.(250-252)gAc>gGc p.D84G COADREAD 12 108086790 108086790 + Frame_Shift_Del DEL G G - TCGA-AA-3672-01A-01W-0900-09 TCGA-AA-3672-10A-01W-0900-09 g.chr12:108086790delG c.419delG c.(418-420)cgtfs p.R140fs COADREAD 12 108097519 108097519 + Missense_Mutation SNP G G A TCGA-AD-6890-01A-11D-1924-10 TCGA-AD-6890-10A-01D-1924-10 g.chr12:108097519G>A c.961G>A c.(961-963)Gat>Aat p.D321N COADREAD 12 108098436 108098436 + Missense_Mutation SNP G G A TCGA-AA-A00N-01A-02W-A00E-09 TCGA-AA-A00N-10A-01W-A00E-09 g.chr12:108098436G>A c.989G>A c.(988-990)cGa>cAa p.R330Q COADREAD 12 108098456 108098456 + Nonsense_Mutation SNP C C T TCGA-AA-3966-01A-01W-1073-09 TCGA-AA-3966-10A-01W-1073-09 g.chr12:108098456C>T c.1009C>T c.(1009-1011)Cga>Tga p.R337* COADREAD 12 108102886 108102886 + Splice_Site SNP A A T TCGA-DM-A1D7-01A-11D-A152-10 TCGA-DM-A1D7-10A-01D-A152-10 g.chr12:108102886A>T c.e13-1 COADREAD 12 108102936 108102936 + Missense_Mutation SNP C C T TCGA-AA-3950-01A-02W-0995-10 TCGA-AA-3950-10A-01W-0995-10 g.chr12:108102936C>T c.1217C>T c.(1216-1218)gCt>gTt p.A406V COADREAD 12 108105908 108105908 + Nonsense_Mutation SNP C C T TCGA-AA-3855-01A-01W-0995-10 TCGA-AA-3855-10A-01W-0995-10 g.chr12:108105908C>T c.1417C>T c.(1417-1419)Cga>Tga p.R473* COADREAD 12 108105949 108105949 + Missense_Mutation SNP T T G TCGA-AA-3930-01A-01W-0995-10 TCGA-AA-3930-10A-01W-0995-10 g.chr12:108105949T>G c.1458T>G c.(1456-1458)atT>atG p.I486M ESCA 12 108082471 108082471 + Missense_Mutation SNP C C T TCGA-JY-A6FG-01A-11D-A33E-09 TCGA-JY-A6FG-10A-01D-A33H-09 g.chr12:108082471C>T c.211C>T c.(211-213)Cgc>Tgc p.R71C ESCA 12 108096757 108096757 + Missense_Mutation SNP G G C TCGA-2H-A9GK-01A-11D-A37C-09 TCGA-2H-A9GK-11A-11D-A37F-09 g.chr12:108096757G>C c.852G>C c.(850-852)tgG>tgC p.W284C ESCA 12 108102887 108102887 + Splice_Site SNP G G T TCGA-L5-A8NS-01A-12D-A37C-09 TCGA-L5-A8NS-11A-11D-A37F-09 g.chr12:108102887G>T c.e13-1 GBMLGG 12 108102935 108102935 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:108102935G>A c.1216G>A c.(1216-1218)Gct>Act p.A406T GBMLGG 12 108102955 108102955 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:108102955C>A c.1236C>A c.(1234-1236)atC>atA p.I412I GBMLGG 12 108104204 108104204 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:108104204G>A c.1313G>A c.(1312-1314)tGt>tAt p.C438Y HNSC 12 108082473 108082473 + Silent SNP C C T TCGA-BB-4223-01A-01D-1434-08 TCGA-BB-4223-10A-01D-1434-08 g.chr12:108082473C>T c.213C>T c.(211-213)cgC>cgT p.R71R HNSC 12 108086644 108086644 + Missense_Mutation SNP G G C TCGA-CV-7433-01A-11D-2129-08 TCGA-CV-7433-10A-01D-2129-08 g.chr12:108086644G>C c.373G>C c.(373-375)Gat>Cat p.D125H HNSC 12 108091362 108091362 + Missense_Mutation SNP G G C TCGA-CR-6481-01A-11D-1870-08 TCGA-CR-6481-10A-01D-1870-08 g.chr12:108091362G>C c.732G>C c.(730-732)aaG>aaC p.K244N HNSC 12 108102726 108102726 + Silent SNP A A G TCGA-CR-7377-01A-11D-2012-08 TCGA-CR-7377-10A-01D-2013-08 g.chr12:108102726A>G c.1101A>G c.(1099-1101)gtA>gtG p.V367V KIPAN 12 108082496 108082496 + Missense_Mutation SNP G G A TCGA-CZ-5451-01A-01D-1501-10 TCGA-CZ-5451-11A-01D-1501-10 g.chr12:108082496G>A c.236G>A c.(235-237)gGt>gAt p.G79D KIRC 12 108082496 108082496 + Missense_Mutation SNP G G A TCGA-CZ-5451-01A-01D-1501-10 TCGA-CZ-5451-11A-01D-1501-10 g.chr12:108082496G>A c.236G>A c.(235-237)gGt>gAt p.G79D LGG 12 108102935 108102935 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:108102935G>A c.1216G>A c.(1216-1218)Gct>Act p.A406T LGG 12 108102955 108102955 + Silent SNP C C A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:108102955C>A c.1236C>A c.(1234-1236)atC>atA p.I412I LGG 12 108104204 108104204 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:108104204G>A c.1313G>A c.(1312-1314)tGt>tAt p.C438Y LIHC 12 108105903 108105903 + Missense_Mutation SNP G G A TCGA-DD-A1ED-01A-11D-A152-10 TCGA-DD-A1ED-10A-01D-A152-10 g.chr12:108105903G>A c.1412G>A c.(1411-1413)gGa>gAa p.G471E LUAD 12 108082452 108082452 + Missense_Mutation SNP G G C TCGA-53-7624-01A-11D-2063-08 TCGA-53-7624-10A-01D-2063-08 g.chr12:108082452G>C c.192G>C c.(190-192)caG>caC p.Q64H LUAD 12 108086637 108086637 + Silent SNP G G T TCGA-44-6145-01A-11D-1753-08 TCGA-44-6145-10A-01D-1753-08 g.chr12:108086637G>T c.366G>T c.(364-366)ggG>ggT p.G122G LUAD 12 108086843 108086843 + Missense_Mutation SNP G G A TCGA-78-7156-01A-11D-2036-08 TCGA-78-7156-10A-01D-2036-08 g.chr12:108086843G>A c.472G>A c.(472-474)Gaa>Aaa p.E158K LUAD 12 108105911 108105911 + Missense_Mutation SNP G G A TCGA-MP-A4TK-01A-11D-A24P-08 TCGA-MP-A4TK-10A-01D-A24P-08 g.chr12:108105911G>A c.1420G>A c.(1420-1422)Gag>Aag p.E474K LUSC 12 108105954 108105954 + Missense_Mutation SNP G G C TCGA-34-5236-01A-21D-1817-08 TCGA-34-5236-10A-01D-1817-08 g.chr12:108105954G>C c.1463G>C c.(1462-1464)gGc>gCc p.G488A PAAD 12 108082406 108082406 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:108082406G>A c.146G>A c.(145-147)gGc>gAc p.G49D PAAD 12 108082504 108082504 + Missense_Mutation SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr12:108082504G>A c.244G>A c.(244-246)Gag>Aag p.E82K PAAD 12 108091262 108091262 + Missense_Mutation SNP G G A TCGA-IB-A7M4-01A-11D-A36O-08 TCGA-IB-A7M4-10A-01D-A367-08 g.chr12:108091262G>A c.632G>A c.(631-633)gGa>gAa p.G211E READ 12 108082481 108082481 + Missense_Mutation SNP A A G TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:108082481A>G c.221A>G c.(220-222)gAg>gGg p.E74G SKCM 12 108090340 108090340 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 g.chr12:108090340C>T c.592C>T c.(592-594)Cct>Tct p.P198S SKCM 12 108090341 108090341 + Missense_Mutation SNP C C T TCGA-DA-A1I2-06A-21D-A19A-08 TCGA-DA-A1I2-10A-01D-A19A-08 g.chr12:108090341C>T c.593C>T c.(592-594)cCt>cTt p.P198L SKCM 12 108098446 108098446 + Missense_Mutation SNP T T A TCGA-ER-A3ET-06A-11D-A20D-08 TCGA-ER-A3ET-10A-01D-A20D-08 g.chr12:108098446T>A c.999T>A c.(997-999)gaT>gaA p.D333E

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 12 108082471 108082471 single base substitution C T exon_variant BLCA-US 12 108082471 108082471 single base substitution C T missense_variant R71C 211C>T BLCA-US 12 108082471 108082471 single base substitution C T missense_variant R9C 25C>T BLCA-US 12 108082471 108082471 single base substitution C T upstream_gene_variant BRCA-EU 12 108078607 108078607 deletion of <=200bp C - upstream_gene_variant BRCA-EU 12 108078761 108078761 single base substitution C T upstream_gene_variant BRCA-EU 12 108078864 108078864 single base substitution G A upstream_gene_variant BRCA-EU 12 108079240 108079240 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 108081118 108081118 single base substitution A G intron_variant BRCA-EU 12 108081366 108081366 single base substitution A G intron_variant BRCA-EU 12 108081892 108081892 single base substitution G A intron_variant BRCA-EU 12 108081892 108081892 single base substitution G A upstream_gene_variant BRCA-EU 12 108084249 108084249 single base substitution T G intron_variant BRCA-EU 12 108084249 108084249 single base substitution T G upstream_gene_variant BRCA-EU 12 108084636 108084636 deletion of <=200bp A - intron_variant BRCA-EU 12 108084636 108084636 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 108085282 108085282 single base substitution G C intron_variant BRCA-EU 12 108085282 108085282 single base substitution G C upstream_gene_variant BRCA-EU 12 108086737 108086737 single base substitution C T intron_variant BRCA-EU 12 108087117 108087117 insertion of <=200bp - T downstream_gene_variant BRCA-EU 12 108087117 108087117 insertion of <=200bp - T intron_variant BRCA-EU 12 108088327 108088327 single base substitution A G downstream_gene_variant BRCA-EU 12 108088327 108088327 single base substitution A G intron_variant BRCA-EU 12 108088465 108088465 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 108088465 108088465 deletion of <=200bp T - intron_variant BRCA-EU 12 108088959 108088959 single base substitution C T downstream_gene_variant BRCA-EU 12 108088959 108088959 single base substitution C T intron_variant BRCA-EU 12 108089296 108089296 single base substitution C G downstream_gene_variant BRCA-EU 12 108089296 108089296 single base substitution C G intron_variant BRCA-EU 12 108090487 108090487 single base substitution T C downstream_gene_variant BRCA-EU 12 108090487 108090487 single base substitution T C intron_variant BRCA-EU 12 108091394 108091394 single base substitution T G downstream_gene_variant BRCA-EU 12 108091394 108091394 single base substitution T G intron_variant BRCA-EU 12 108092860 108092860 single base substitution A G downstream_gene_variant BRCA-EU 12 108092860 108092860 single base substitution A G intron_variant BRCA-EU 12 108094683 108094683 single base substitution T C downstream_gene_variant BRCA-EU 12 108094683 108094683 single base substitution T C intron_variant BRCA-EU 12 108095377 108095377 insertion of <=200bp - T downstream_gene_variant BRCA-EU 12 108095377 108095377 insertion of <=200bp - T intron_variant BRCA-EU 12 108095533 108095533 single base substitution C T downstream_gene_variant BRCA-EU 12 108095533 108095533 single base substitution C T intron_variant BRCA-EU 12 108097324 108097324 single base substitution T G intron_variant BRCA-EU 12 108097553 108097553 single base substitution C G intron_variant BRCA-EU 12 108097844 108097844 single base substitution C A intron_variant BRCA-EU 12 108098181 108098181 single base substitution G C intron_variant BRCA-EU 12 108098572 108098572 deletion of <=200bp T - intron_variant BRCA-EU 12 108098665 108098665 deletion of <=200bp T - intron_variant BRCA-EU 12 108098665 108098665 insertion of <=200bp - TT intron_variant BRCA-EU 12 108100020 108100020 single base substitution C T intron_variant BRCA-EU 12 108100026 108100026 single base substitution T G intron_variant BRCA-EU 12 108100338 108100338 single base substitution G T intron_variant BRCA-EU 12 108100841 108100841 single base substitution C A intron_variant BRCA-EU 12 108101380 108101380 single base substitution G A intron_variant BRCA-EU 12 108104361 108104361 single base substitution C T intron_variant BRCA-EU 12 108105811 108105811 single base substitution C G intron_variant BRCA-EU 12 108108930 108108930 single base substitution G C downstream_gene_variant BRCA-EU 12 108110533 108110533 single base substitution C T downstream_gene_variant BRCA-EU 12 108110550 108110550 single base substitution A G downstream_gene_variant BRCA-EU 12 108110925 108110925 single base substitution G A downstream_gene_variant BRCA-EU 12 108110984 108110984 single base substitution G A downstream_gene_variant BRCA-EU 12 108111585 108111585 single base substitution G C downstream_gene_variant BRCA-FR 12 108078864 108078864 single base substitution G A upstream_gene_variant BRCA-FR 12 108081892 108081892 single base substitution G A intron_variant BRCA-FR 12 108081892 108081892 single base substitution G A upstream_gene_variant BRCA-FR 12 108098755 108098755 single base substitution C T intron_variant BRCA-FR 12 108101380 108101380 single base substitution G A intron_variant BRCA-FR 12 108110984 108110984 single base substitution G A downstream_gene_variant BRCA-UK 12 108082117 108082117 single base substitution G A intron_variant BRCA-UK 12 108082117 108082117 single base substitution G A upstream_gene_variant BRCA-UK 12 108102735 108102735 single base substitution G A synonymous_variant L308L 924G>A BRCA-UK 12 108102735 108102735 single base substitution G A synonymous_variant L370L 1110G>A BRCA-US 12 108086667 108086667 single base substitution G A exon_variant BRCA-US 12 108086667 108086667 single base substitution G A synonymous_variant L132L 396G>A BRCA-US 12 108086667 108086667 single base substitution G A synonymous_variant L70L 210G>A BRCA-US 12 108090359 108090359 single base substitution C T downstream_gene_variant BRCA-US 12 108090359 108090359 single base substitution C T missense_variant T142I 425C>T BRCA-US 12 108090359 108090359 single base substitution C T missense_variant T204I 611C>T BRCA-US 12 108090359 108090359 single base substitution C T splice_region_variant BTCA-JP 12 108104246 108104246 single base substitution A C missense_variant K390T 1169A>C BTCA-JP 12 108104246 108104246 single base substitution A C missense_variant K452T 1355A>C CESC-US 12 108082489 108082489 single base substitution G A exon_variant CESC-US 12 108082489 108082489 single base substitution G A missense_variant E15K 43G>A CESC-US 12 108082489 108082489 single base substitution G A missense_variant E77K 229G>A CESC-US 12 108082489 108082489 single base substitution G A upstream_gene_variant CESC-US 12 108086770 108086770 single base substitution C G exon_variant CESC-US 12 108086770 108086770 single base substitution C G intron_variant CESC-US 12 108086770 108086770 single base substitution C G splice_region_variant CLLE-ES 12 108083442 108083442 single base substitution G A intron_variant CLLE-ES 12 108083442 108083442 single base substitution G A upstream_gene_variant COAD-US 12 108082252 108082252 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 12 108082252 108082252 single base substitution C T exon_variant COAD-US 12 108082252 108082252 single base substitution C T missense_variant R34C 100C>T COAD-US 12 108082252 108082252 single base substitution C T upstream_gene_variant COAD-US 12 108097519 108097519 single base substitution G A missense_variant D259N 775G>A COAD-US 12 108097519 108097519 single base substitution G A missense_variant D321N 961G>A COAD-US 12 108102757 108102757 single base substitution A G missense_variant I316V 946A>G COAD-US 12 108102757 108102757 single base substitution A G missense_variant I378V 1132A>G COAD-US 12 108102886 108102886 single base substitution A T splice_acceptor_variant COCA-CN 12 108082253 108082253 single base substitution G A 5_prime_UTR_variant COCA-CN 12 108082253 108082253 single base substitution G A exon_variant COCA-CN 12 108082253 108082253 single base substitution G A missense_variant R34H 101G>A COCA-CN 12 108082253 108082253 single base substitution G A upstream_gene_variant COCA-CN 12 108091246 108091246 single base substitution A C downstream_gene_variant COCA-CN 12 108091246 108091246 single base substitution A C missense_variant N144H 430A>C COCA-CN 12 108091246 108091246 single base substitution A C missense_variant N206H 616A>C COCA-CN 12 108091246 108091246 single base substitution A C splice_region_variant COCA-CN 12 108096588 108096588 single base substitution C A intron_variant COCA-CN 12 108096616 108096616 single base substitution T C intron_variant COCA-CN 12 108096752 108096752 single base substitution C T synonymous_variant L221L 661C>T COCA-CN 12 108096752 108096752 single base substitution C T synonymous_variant L283L 847C>T COCA-CN 12 108098370 108098370 single base substitution G A intron_variant COCA-CN 12 108098521 108098521 single base substitution C A missense_variant F296L 888C>A COCA-CN 12 108098521 108098521 single base substitution C A missense_variant F358L 1074C>A ESAD-UK 12 108075710 108075710 single base substitution C T upstream_gene_variant ESAD-UK 12 108075981 108075981 single base substitution A G upstream_gene_variant ESAD-UK 12 108076215 108076215 deletion of <=200bp G - upstream_gene_variant ESAD-UK 12 108078407 108078407 single base substitution C T upstream_gene_variant ESAD-UK 12 108079631 108079631 single base substitution C G 5_prime_UTR_variant ESAD-UK 12 108079631 108079631 single base substitution C G upstream_gene_variant ESAD-UK 12 108080219 108080219 single base substitution G C intron_variant ESAD-UK 12 108081191 108081191 single base substitution C A intron_variant ESAD-UK 12 108082091 108082091 single base substitution G A intron_variant ESAD-UK 12 108082091 108082091 single base substitution G A upstream_gene_variant ESAD-UK 12 108083178 108083178 single base substitution G T intron_variant ESAD-UK 12 108083178 108083178 single base substitution G T upstream_gene_variant ESAD-UK 12 108083283 108083283 single base substitution G A intron_variant ESAD-UK 12 108083283 108083283 single base substitution G A upstream_gene_variant ESAD-UK 12 108083350 108083350 single base substitution C T intron_variant ESAD-UK 12 108083350 108083350 single base substitution C T upstream_gene_variant ESAD-UK 12 108083374 108083374 single base substitution T G intron_variant ESAD-UK 12 108083374 108083374 single base substitution T G upstream_gene_variant ESAD-UK 12 108083384 108083384 single base substitution G A intron_variant ESAD-UK 12 108083384 108083384 single base substitution G A upstream_gene_variant ESAD-UK 12 108083454 108083454 single base substitution C T intron_variant ESAD-UK 12 108083454 108083454 single base substitution C T upstream_gene_variant ESAD-UK 12 108084249 108084249 single base substitution T G intron_variant ESAD-UK 12 108084249 108084249 single base substitution T G upstream_gene_variant ESAD-UK 12 108089303 108089303 single base substitution G A downstream_gene_variant ESAD-UK 12 108089303 108089303 single base substitution G A intron_variant ESAD-UK 12 108090911 108090911 single base substitution C A downstream_gene_variant ESAD-UK 12 108090911 108090911 single base substitution C A intron_variant ESAD-UK 12 108096622 108096622 single base substitution T A intron_variant ESAD-UK 12 108098001 108098001 single base substitution G A intron_variant ESAD-UK 12 108098827 108098827 insertion of <=200bp - T intron_variant ESAD-UK 12 108098876 108098876 single base substitution C T intron_variant ESAD-UK 12 108101743 108101743 single base substitution G A intron_variant ESAD-UK 12 108103151 108103151 single base substitution G C intron_variant ESAD-UK 12 108104131 108104131 single base substitution T A intron_variant ESAD-UK 12 108104740 108104740 single base substitution G A intron_variant ESAD-UK 12 108105344 108105344 single base substitution G A intron_variant ESAD-UK 12 108107552 108107552 single base substitution G T downstream_gene_variant ESAD-UK 12 108109059 108109059 single base substitution C A downstream_gene_variant ESAD-UK 12 108111251 108111251 single base substitution C A downstream_gene_variant KIRC-US 12 108082496 108082496 single base substitution G A exon_variant KIRC-US 12 108082496 108082496 single base substitution G A missense_variant G17D 50G>A KIRC-US 12 108082496 108082496 single base substitution G A missense_variant G79D 236G>A KIRC-US 12 108082496 108082496 single base substitution G A upstream_gene_variant LAML-KR 12 108082253 108082253 single base substitution G A 5_prime_UTR_variant LAML-KR 12 108082253 108082253 single base substitution G A exon_variant LAML-KR 12 108082253 108082253 single base substitution G A missense_variant R34H 101G>A LAML-KR 12 108082253 108082253 single base substitution G A upstream_gene_variant LICA-FR 12 108097785 108097785 single base substitution A T intron_variant LICA-FR 12 108099220 108099220 single base substitution C T intron_variant LICA-FR 12 108100437 108100437 single base substitution C A intron_variant LICA-FR 12 108101676 108101676 single base substitution G A intron_variant LICA-FR 12 108109351 108109351 single base substitution A C downstream_gene_variant LINC-JP 12 108091259 108091259 single base substitution T G 3_prime_UTR_variant LINC-JP 12 108091259 108091259 single base substitution T G downstream_gene_variant LINC-JP 12 108091259 108091259 single base substitution T G exon_variant LINC-JP 12 108091259 108091259 single base substitution T G missense_variant V148G 443T>G LINC-JP 12 108091259 108091259 single base substitution T G missense_variant V210G 629T>G LINC-JP 12 108102717 108102717 single base substitution C T synonymous_variant D302D 906C>T LINC-JP 12 108102717 108102717 single base substitution C T synonymous_variant D364D 1092C>T LINC-JP 12 108105920 108105920 single base substitution G A missense_variant V415I 1243G>A LINC-JP 12 108105920 108105920 single base substitution G A missense_variant V477I 1429G>A LINC-JP 12 108106077 108106077 single base substitution A G 3_prime_UTR_variant LIRI-JP 12 108075205 108075205 single base substitution A G upstream_gene_variant LIRI-JP 12 108077385 108077385 single base substitution T C upstream_gene_variant LIRI-JP 12 108080830 108080830 single base substitution G T intron_variant LIRI-JP 12 108081858 108081858 single base substitution G A intron_variant LIRI-JP 12 108081858 108081858 single base substitution G A upstream_gene_variant LIRI-JP 12 108084039 108084039 single base substitution C T intron_variant LIRI-JP 12 108084039 108084039 single base substitution C T upstream_gene_variant LIRI-JP 12 108085657 108085657 single base substitution C G intron_variant LIRI-JP 12 108085657 108085657 single base substitution C G upstream_gene_variant LIRI-JP 12 108087351 108087351 single base substitution A G downstream_gene_variant LIRI-JP 12 108087351 108087351 single base substitution A G intron_variant LIRI-JP 12 108087713 108087715 deletion of <=200bp AAA - downstream_gene_variant LIRI-JP 12 108087713 108087715 deletion of <=200bp AAA - intron_variant LIRI-JP 12 108091333 108091333 single base substitution G A 3_prime_UTR_variant LIRI-JP 12 108091333 108091333 single base substitution G A downstream_gene_variant LIRI-JP 12 108091333 108091333 single base substitution G A exon_variant LIRI-JP 12 108091333 108091333 single base substitution G A missense_variant G173R 517G>A LIRI-JP 12 108091333 108091333 single base substitution G A missense_variant G235R 703G>A LIRI-JP 12 108093042 108093042 single base substitution A G downstream_gene_variant LIRI-JP 12 108093042 108093042 single base substitution A G intron_variant LIRI-JP 12 108093659 108093659 single base substitution G A downstream_gene_variant LIRI-JP 12 108093659 108093659 single base substitution G A intron_variant LIRI-JP 12 108093811 108093811 single base substitution T C downstream_gene_variant LIRI-JP 12 108093811 108093811 single base substitution T C intron_variant LIRI-JP 12 108094205 108094205 single base substitution T G downstream_gene_variant LIRI-JP 12 108094205 108094205 single base substitution T G intron_variant LIRI-JP 12 108096092 108096092 single base substitution C G downstream_gene_variant LIRI-JP 12 108096092 108096092 single base substitution C G intron_variant LIRI-JP 12 108096443 108096443 single base substitution A G intron_variant LIRI-JP 12 108097214 108097214 single base substitution C G intron_variant LIRI-JP 12 108098151 108098151 single base substitution A T intron_variant LIRI-JP 12 108100707 108100707 single base substitution T C intron_variant LIRI-JP 12 108104047 108104047 single base substitution A G intron_variant LIRI-JP 12 108106944 108106944 deletion of <=200bp A - 3_prime_UTR_variant LIRI-JP 12 108106944 108106944 deletion of <=200bp A - downstream_gene_variant LIRI-JP 12 108107454 108107454 single base substitution G T downstream_gene_variant LIRI-JP 12 108108988 108108988 single base substitution G C downstream_gene_variant LIRI-JP 12 108109286 108109286 single base substitution A G downstream_gene_variant LUSC-KR 12 108075054 108075054 single base substitution C G upstream_gene_variant LUSC-KR 12 108076789 108076789 single base substitution G C upstream_gene_variant LUSC-KR 12 108077638 108077638 single base substitution G T upstream_gene_variant LUSC-KR 12 108079451 108079451 single base substitution C A upstream_gene_variant LUSC-KR 12 108079801 108079801 single base substitution G T intron_variant LUSC-KR 12 108079801 108079801 single base substitution G T upstream_gene_variant LUSC-KR 12 108096890 108096890 single base substitution T C intron_variant LUSC-KR 12 108110091 108110091 single base substitution G T downstream_gene_variant LUSC-US 12 108105954 108105954 single base substitution G C missense_variant G426A 1277G>C LUSC-US 12 108105954 108105954 single base substitution G C missense_variant G488A 1463G>C MALY-DE 12 108075212 108075212 deletion of <=200bp T - upstream_gene_variant MALY-DE 12 108079107 108079107 single base substitution G T upstream_gene_variant MALY-DE 12 108082353 108082353 single base substitution A G intron_variant MALY-DE 12 108082353 108082353 single base substitution A G upstream_gene_variant MALY-DE 12 108084249 108084249 single base substitution T G intron_variant MALY-DE 12 108084249 108084249 single base substitution T G upstream_gene_variant MALY-DE 12 108094240 108094240 single base substitution G C downstream_gene_variant MALY-DE 12 108094240 108094240 single base substitution G C intron_variant MALY-DE 12 108097232 108097232 single base substitution A C intron_variant MALY-DE 12 108104769 108104769 single base substitution T A intron_variant MALY-DE 12 108106221 108106221 single base substitution A C 3_prime_UTR_variant MALY-DE 12 108106221 108106221 single base substitution A C downstream_gene_variant MELA-AU 12 108074854 108074854 single base substitution C T upstream_gene_variant MELA-AU 12 108074968 108074969 multiple base substitution (>=2bp and <=200bp) TC CT upstream_gene_variant MELA-AU 12 108075042 108075042 single base substitution A G upstream_gene_variant MELA-AU 12 108075158 108075158 single base substitution C T upstream_gene_variant MELA-AU 12 108075339 108075339 single base substitution G A upstream_gene_variant MELA-AU 12 108075788 108075788 single base substitution G A upstream_gene_variant MELA-AU 12 108075892 108075892 single base substitution G A upstream_gene_variant MELA-AU 12 108075993 108075993 single base substitution G A upstream_gene_variant MELA-AU 12 108076027 108076027 single base substitution C T upstream_gene_variant MELA-AU 12 108076213 108076213 single base substitution C T upstream_gene_variant MELA-AU 12 108076287 108076287 single base substitution G A upstream_gene_variant MELA-AU 12 108076431 108076431 single base substitution C T upstream_gene_variant MELA-AU 12 108076494 108076494 single base substitution C T upstream_gene_variant MELA-AU 12 108076619 108076619 single base substitution C T upstream_gene_variant MELA-AU 12 108076756 108076756 single base substitution C T upstream_gene_variant MELA-AU 12 108076927 108076928 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 108076928 108076928 single base substitution G A upstream_gene_variant MELA-AU 12 108077433 108077433 single base substitution A G upstream_gene_variant MELA-AU 12 108077512 108077512 single base substitution T G upstream_gene_variant MELA-AU 12 108077775 108077776 multiple base substitution (>=2bp and <=200bp) GA CC upstream_gene_variant MELA-AU 12 108079467 108079467 single base substitution C T upstream_gene_variant MELA-AU 12 108079526 108079526 single base substitution G A 5_prime_UTR_variant MELA-AU 12 108079526 108079526 single base substitution G A upstream_gene_variant MELA-AU 12 108079594 108079594 single base substitution C T 5_prime_UTR_variant MELA-AU 12 108079594 108079594 single base substitution C T upstream_gene_variant MELA-AU 12 108079716 108079716 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 108079716 108079716 single base substitution C T exon_variant MELA-AU 12 108079716 108079716 single base substitution C T missense_variant R14C 40C>T MELA-AU 12 108079716 108079716 single base substitution C T upstream_gene_variant MELA-AU 12 108081239 108081239 single base substitution T C intron_variant MELA-AU 12 108081903 108081904 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 108081903 108081904 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 12 108082051 108082051 single base substitution T A intron_variant MELA-AU 12 108082051 108082051 single base substitution T A upstream_gene_variant MELA-AU 12 108082370 108082370 single base substitution C T intron_variant MELA-AU 12 108082370 108082370 single base substitution C T upstream_gene_variant MELA-AU 12 108082892 108082892 single base substitution C T intron_variant MELA-AU 12 108082892 108082892 single base substitution C T upstream_gene_variant MELA-AU 12 108083320 108083320 single base substitution C T intron_variant MELA-AU 12 108083320 108083320 single base substitution C T upstream_gene_variant MELA-AU 12 108084503 108084503 single base substitution C T intron_variant MELA-AU 12 108084503 108084503 single base substitution C T upstream_gene_variant MELA-AU 12 108085474 108085474 single base substitution T A intron_variant MELA-AU 12 108085474 108085474 single base substitution T A upstream_gene_variant MELA-AU 12 108086062 108086062 single base substitution G A intron_variant MELA-AU 12 108086062 108086062 single base substitution G A upstream_gene_variant MELA-AU 12 108086708 108086711 deletion of <=200bp TCTT - intron_variant MELA-AU 12 108087173 108087173 single base substitution A G downstream_gene_variant MELA-AU 12 108087173 108087173 single base substitution A G intron_variant MELA-AU 12 108087534 108087534 single base substitution C T downstream_gene_variant MELA-AU 12 108087534 108087534 single base substitution C T intron_variant MELA-AU 12 108087727 108087727 single base substitution C T downstream_gene_variant MELA-AU 12 108087727 108087727 single base substitution C T intron_variant MELA-AU 12 108087982 108087982 single base substitution C T downstream_gene_variant MELA-AU 12 108087982 108087982 single base substitution C T intron_variant MELA-AU 12 108088037 108088037 single base substitution C A downstream_gene_variant MELA-AU 12 108088037 108088037 single base substitution C A intron_variant MELA-AU 12 108088475 108088475 single base substitution C A downstream_gene_variant MELA-AU 12 108088475 108088475 single base substitution C A intron_variant MELA-AU 12 108088528 108088528 single base substitution G A downstream_gene_variant MELA-AU 12 108088528 108088528 single base substitution G A intron_variant MELA-AU 12 108090268 108090268 single base substitution G A 3_prime_UTR_variant MELA-AU 12 108090268 108090268 single base substitution G A downstream_gene_variant MELA-AU 12 108090268 108090268 single base substitution G A exon_variant MELA-AU 12 108090268 108090268 single base substitution G A missense_variant D112N 334G>A MELA-AU 12 108090268 108090268 single base substitution G A missense_variant D174N 520G>A MELA-AU 12 108090547 108090547 single base substitution C T downstream_gene_variant MELA-AU 12 108090547 108090547 single base substitution C T intron_variant MELA-AU 12 108091049 108091049 single base substitution C T downstream_gene_variant MELA-AU 12 108091049 108091049 single base substitution C T intron_variant MELA-AU 12 108091323 108091323 single base substitution C T 3_prime_UTR_variant MELA-AU 12 108091323 108091323 single base substitution C T downstream_gene_variant MELA-AU 12 108091323 108091323 single base substitution C T exon_variant MELA-AU 12 108091323 108091323 single base substitution C T synonymous_variant V169V 507C>T MELA-AU 12 108091323 108091323 single base substitution C T synonymous_variant V231V 693C>T MELA-AU 12 108091585 108091585 single base substitution C T downstream_gene_variant MELA-AU 12 108091585 108091585 single base substitution C T intron_variant MELA-AU 12 108091655 108091655 single base substitution G A downstream_gene_variant MELA-AU 12 108091655 108091655 single base substitution G A intron_variant MELA-AU 12 108091667 108091667 single base substitution C T downstream_gene_variant MELA-AU 12 108091667 108091667 single base substitution C T intron_variant MELA-AU 12 108093587 108093587 single base substitution G A downstream_gene_variant MELA-AU 12 108093587 108093587 single base substitution G A intron_variant MELA-AU 12 108093981 108093981 single base substitution C T downstream_gene_variant MELA-AU 12 108093981 108093981 single base substitution C T intron_variant MELA-AU 12 108094269 108094269 single base substitution C T downstream_gene_variant MELA-AU 12 108094269 108094269 single base substitution C T intron_variant MELA-AU 12 108094675 108094675 single base substitution C T downstream_gene_variant MELA-AU 12 108094675 108094675 single base substitution C T intron_variant MELA-AU 12 108095079 108095079 single base substitution C T downstream_gene_variant MELA-AU 12 108095079 108095079 single base substitution C T intron_variant MELA-AU 12 108095089 108095089 single base substitution T G downstream_gene_variant MELA-AU 12 108095089 108095089 single base substitution T G intron_variant MELA-AU 12 108095180 108095180 single base substitution T C downstream_gene_variant MELA-AU 12 108095180 108095180 single base substitution T C intron_variant MELA-AU 12 108096349 108096349 single base substitution C T downstream_gene_variant MELA-AU 12 108096349 108096349 single base substitution C T intron_variant MELA-AU 12 108096569 108096569 single base substitution T C intron_variant MELA-AU 12 108097460 108097460 single base substitution A C splice_acceptor_variant MELA-AU 12 108098742 108098743 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 108098876 108098876 single base substitution C T intron_variant MELA-AU 12 108098922 108098926 deletion of <=200bp ATTTG - intron_variant MELA-AU 12 108101649 108101650 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 12 108104172 108104172 single base substitution C T intron_variant MELA-AU 12 108104359 108104359 single base substitution C T intron_variant MELA-AU 12 108104824 108104824 single base substitution G A intron_variant MELA-AU 12 108106812 108106812 single base substitution T A 3_prime_UTR_variant MELA-AU 12 108106812 108106812 single base substitution T A downstream_gene_variant MELA-AU 12 108107657 108107657 single base substitution G A downstream_gene_variant MELA-AU 12 108107995 108107995 single base substitution C T downstream_gene_variant MELA-AU 12 108109704 108109704 single base substitution C T downstream_gene_variant MELA-AU 12 108110181 108110183 deletion of <=200bp GAT - downstream_gene_variant MELA-AU 12 108111043 108111043 deletion of <=200bp G - downstream_gene_variant ORCA-IN 12 108092339 108092339 single base substitution C T downstream_gene_variant ORCA-IN 12 108092339 108092339 single base substitution C T intron_variant ORCA-IN 12 108103308 108103308 single base substitution A C intron_variant OV-AU 12 108075839 108075839 single base substitution C G upstream_gene_variant OV-AU 12 108076067 108076067 single base substitution C T upstream_gene_variant OV-AU 12 108079559 108079559 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant OV-AU 12 108079559 108079559 single base substitution A T upstream_gene_variant OV-AU 12 108095918 108095918 single base substitution T A downstream_gene_variant OV-AU 12 108095918 108095918 single base substitution T A intron_variant OV-AU 12 108096092 108096092 single base substitution C G downstream_gene_variant OV-AU 12 108096092 108096092 single base substitution C G intron_variant OV-AU 12 108105871 108105871 single base substitution G C intron_variant PACA-AU 12 108083672 108083672 single base substitution C T intron_variant PACA-AU 12 108083672 108083672 single base substitution C T upstream_gene_variant PACA-AU 12 108083947 108083967 deletion of <=200bp GCAACAAAGTAAAATCACAAC - intron_variant PACA-AU 12 108083947 108083967 deletion of <=200bp GCAACAAAGTAAAATCACAAC - upstream_gene_variant PACA-AU 12 108086758 108086758 deletion of <=200bp T - exon_variant PACA-AU 12 108086758 108086758 deletion of <=200bp T - intron_variant PACA-AU 12 108089099 108089099 single base substitution A G downstream_gene_variant PACA-AU 12 108089099 108089099 single base substitution A G intron_variant PACA-AU 12 108095431 108095431 single base substitution G A downstream_gene_variant PACA-AU 12 108095431 108095431 single base substitution G A intron_variant PACA-AU 12 108097159 108097159 single base substitution C T intron_variant PACA-AU 12 108101473 108101473 single base substitution G A intron_variant PACA-AU 12 108107922 108107922 single base substitution A G downstream_gene_variant PACA-AU 12 108109856 108109856 single base substitution G T downstream_gene_variant PACA-CA 12 108074663 108074663 single base substitution T C upstream_gene_variant PACA-CA 12 108075582 108075582 single base substitution C T upstream_gene_variant PACA-CA 12 108075631 108075631 single base substitution T G upstream_gene_variant PACA-CA 12 108083608 108083608 insertion of <=200bp - G intron_variant PACA-CA 12 108083608 108083608 insertion of <=200bp - G upstream_gene_variant PACA-CA 12 108083994 108083994 single base substitution T C intron_variant PACA-CA 12 108083994 108083994 single base substitution T C upstream_gene_variant PACA-CA 12 108085087 108085087 deletion of <=200bp G - intron_variant PACA-CA 12 108085087 108085087 deletion of <=200bp G - upstream_gene_variant PACA-CA 12 108099994 108099994 single base substitution T G intron_variant PACA-CA 12 108104033 108104033 single base substitution G A intron_variant PACA-CA 12 108105110 108105110 single base substitution G A intron_variant PACA-CA 12 108110498 108110498 insertion of <=200bp - AATAATAATAAATA downstream_gene_variant PACA-CA 12 108110504 108110506 deletion of <=200bp AGT - downstream_gene_variant PACA-CA 12 108110509 108110510 deletion of <=200bp CG - downstream_gene_variant PACA-CA 12 108110516 108110517 deletion of <=200bp CT - downstream_gene_variant PACA-CA 12 108110520 108110524 deletion of <=200bp GGCAG - downstream_gene_variant PACA-CA 12 108110528 108110528 deletion of <=200bp G - downstream_gene_variant PACA-CA 12 108110531 108110531 insertion of <=200bp - GTT downstream_gene_variant PACA-CA 12 108110535 108110537 deletion of <=200bp ATC - downstream_gene_variant PACA-CA 12 108110542 108110542 insertion of <=200bp - CT downstream_gene_variant PAEN-IT 12 108090383 108090383 single base substitution G A downstream_gene_variant PAEN-IT 12 108090383 108090383 single base substitution G A intron_variant PAEN-IT 12 108095474 108095474 single base substitution G A downstream_gene_variant PAEN-IT 12 108095474 108095474 single base substitution G A intron_variant PAEN-IT 12 108095484 108095484 single base substitution C G downstream_gene_variant PAEN-IT 12 108095484 108095484 single base substitution C G intron_variant PAEN-IT 12 108095545 108095545 single base substitution C G downstream_gene_variant PAEN-IT 12 108095545 108095545 single base substitution C G intron_variant PAEN-IT 12 108095553 108095553 single base substitution C T downstream_gene_variant PAEN-IT 12 108095553 108095553 single base substitution C T intron_variant PBCA-DE 12 108074855 108074855 single base substitution C A upstream_gene_variant PBCA-DE 12 108096168 108096168 single base substitution G A downstream_gene_variant PBCA-DE 12 108096168 108096168 single base substitution G A intron_variant PRAD-CA 12 108074969 108074969 single base substitution C T upstream_gene_variant PRAD-CA 12 108109689 108109689 single base substitution A T downstream_gene_variant PRAD-UK 12 108075202 108075202 single base substitution T G upstream_gene_variant PRAD-UK 12 108078143 108078143 deletion of <=200bp G - upstream_gene_variant PRAD-UK 12 108110552 108110552 single base substitution A T downstream_gene_variant RECA-EU 12 108080363 108080363 single base substitution G A intron_variant RECA-EU 12 108098270 108098270 single base substitution T G intron_variant RECA-EU 12 108100462 108100462 single base substitution G T intron_variant RECA-EU 12 108111902 108111902 single base substitution A G downstream_gene_variant SKCA-BR 12 108074957 108074958 deletion of <=200bp CT - upstream_gene_variant SKCA-BR 12 108077472 108077472 single base substitution C T upstream_gene_variant SKCA-BR 12 108079468 108079468 single base substitution C T upstream_gene_variant SKCA-BR 12 108081617 108081617 single base substitution C T intron_variant SKCA-BR 12 108081617 108081617 single base substitution C T upstream_gene_variant SKCA-BR 12 108083098 108083098 single base substitution G A intron_variant SKCA-BR 12 108083098 108083098 single base substitution G A upstream_gene_variant SKCA-BR 12 108088876 108088877 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 12 108088876 108088877 deletion of <=200bp CA - intron_variant SKCA-BR 12 108092838 108092838 single base substitution C T downstream_gene_variant SKCA-BR 12 108092838 108092838 single base substitution C T intron_variant SKCA-BR 12 108094752 108094752 single base substitution C T downstream_gene_variant SKCA-BR 12 108094752 108094752 single base substitution C T intron_variant SKCA-BR 12 108097451 108097451 single base substitution C T intron_variant SKCA-BR 12 108103318 108103318 single base substitution C T intron_variant SKCA-BR 12 108104329 108104329 insertion of <=200bp - TAAA intron_variant SKCA-BR 12 108106058 108106058 single base substitution T C 3_prime_UTR_variant SKCA-BR 12 108108451 108108451 single base substitution C T downstream_gene_variant SKCA-BR 12 108109925 108109925 single base substitution C T downstream_gene_variant SKCM-US 12 108098446 108098446 single base substitution T A missense_variant D271E 813T>A SKCM-US 12 108098446 108098446 single base substitution T A missense_variant D333E 999T>A SKCM-US 12 108102893 108102893 single base substitution G A missense_variant D330N 988G>A SKCM-US 12 108102893 108102893 single base substitution G A missense_variant D392N 1174G>A STAD-US 12 108082460 108082460 single base substitution G A exon_variant STAD-US 12 108082460 108082460 single base substitution G A missense_variant R5H 14G>A STAD-US 12 108082460 108082460 single base substitution G A missense_variant R67H 200G>A STAD-US 12 108082460 108082460 single base substitution G A upstream_gene_variant STAD-US 12 108090314 108090317 deletion of <=200bp TGAG - 3_prime_UTR_variant STAD-US 12 108090314 108090317 deletion of <=200bp TGAG - downstream_gene_variant STAD-US 12 108090314 108090317 deletion of <=200bp TGAG - exon_variant STAD-US 12 108090314 108090317 deletion of <=200bp TGAG - frameshift_variant LS127 STAD-US 12 108090314 108090317 deletion of <=200bp TGAG - frameshift_variant LS189 STAD-US 12 108091273 108091273 single base substitution C A 3_prime_UTR_variant STAD-US 12 108091273 108091273 single base substitution C A downstream_gene_variant STAD-US 12 108091273 108091273 single base substitution C A exon_variant STAD-US 12 108091273 108091273 single base substitution C A missense_variant P153T 457C>A STAD-US 12 108091273 108091273 single base substitution C A missense_variant P215T 643C>A STAD-US 12 108105908 108105908 single base substitution C T stop_gained R411* 1231C>T STAD-US 12 108105908 108105908 single base substitution C T stop_gained R473* 1417C>T THCA-SA 12 108096769 108096769 single base substitution G C missense_variant L226F 678G>C THCA-SA 12 108096769 108096769 single base substitution G C missense_variant L288F 864G>C UCEC-US 12 108082572 108082572 single base substitution T C exon_variant UCEC-US 12 108082572 108082572 single base substitution T C synonymous_variant G104G 312T>C UCEC-US 12 108082572 108082572 single base substitution T C synonymous_variant G42G 126T>C UCEC-US 12 108082572 108082572 single base substitution T C upstream_gene_variant UCEC-US 12 108093183 108093183 single base substitution C A downstream_gene_variant UCEC-US 12 108093183 108093183 single base substitution C A missense_variant L198I 592C>A UCEC-US 12 108093183 108093183 single base substitution C A missense_variant L260I 778C>A UCEC-US 12 108096761 108096761 single base substitution A C missense_variant M224L 670A>C UCEC-US 12 108096761 108096761 single base substitution A C missense_variant M286L 856A>C UCEC-US 12 108098436 108098436 single base substitution G A missense_variant R268Q 803G>A UCEC-US 12 108098436 108098436 single base substitution G A missense_variant R330Q 989G>A UCEC-US 12 108102718 108102718 single base substitution G A missense_variant G303S 907G>A UCEC-US 12 108102718 108102718 single base substitution G A missense_variant G365S 1093G>A UCEC-US 12 108102922 108102922 single base substitution C T synonymous_variant L339L 1017C>T UCEC-US 12 108102922 108102922 single base substitution C T synonymous_variant L401L 1203C>T UCEC-US 12 108102971 108102971 single base substitution G T missense_variant D356Y 1066G>T UCEC-US 12 108102971 108102971 single base substitution G T missense_variant D418Y 1252G>T UCEC-US 12 108105983 108105983 single base substitution C A missense_variant P436T 1306C>A UCEC-US 12 108105983 108105983 single base substitution C A missense_variant P498T 1492C>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SWE-4C COSM1179590 c.1417C>A p.R473R Substitution - coding silent 12:107712131-107712131 + TCGA-BS-A0UM-01 COSM934512 c.1203C>T p.L401L Substitution - coding silent 12:107709145-107709145 + TCGA-BR-8487-01 COSM4038326 c.643C>A p.P215T Substitution - Missense 12:107697496-107697496 + TCGA-AX-A0J1-01 COSM934507 c.312T>C p.G104G Substitution - coding silent 12:107688795-107688795 + TCGA-CU-A0YN-01 COSM415640 c.211C>T p.R71C Substitution - Missense 12:107688694-107688694 + COLO320-DM COSM1945435 c.835A>G p.N279D Substitution - Missense 12:107702963-107702963 + sysucc-1317T COSM5448368 c.847C>T p.L283L Substitution - coding silent 12:107702975-107702975 + TCGA-AD-6890-01 COSM1358480 c.961G>A p.D321N Substitution - Missense 12:107703742-107703742 + CSCC-16-T COSM4450073 c.436delA p.K146fs*7 Deletion - Frameshift 12:107693030-107693030 + 631052 COSM322935 c.1189A>T p.I397F Substitution - Missense 12:107709131-107709131 + PA028 COSM1162234 c.1378A>G p.I460V Substitution - Missense 12:107710492-107710492 + HDC90 COSM1945422 c.200G>A p.R67H Substitution - Missense 12:107688683-107688683 + TCGA-Q1-A6DW-01 COSM4855922 c.406-7C>G p.? Unknown 12:107692993-107692993 + 2492726 COSM5724983 c.353T>C p.L118P Substitution - Missense 12:107692847-107692847 + TCGA-BH-A0WA-01 COSM430251 c.396G>A p.L132L Substitution - coding silent 12:107692890-107692890 + TCGA-D1-A17Q-01 COSM276967 c.989G>A p.R330Q Substitution - Missense 12:107704659-107704659 + TCGA-EW-A1IZ-01 COSM1476087 c.611C>T p.T204I Substitution - Missense 12:107696582-107696582 + sysucc-1370T COSM5425442 c.101G>A p.R34H Substitution - Missense 12:107688476-107688476 + pfg181T COSM4759946 c.939G>T p.Q313H Substitution - Missense 12:107703720-107703720 + TCGA-D1-A103-01 COSM934511 c.1093G>A p.G365S Substitution - Missense 12:107708941-107708941 + KM12 COSM1677312 c.792G>A p.W264* Substitution - Nonsense 12:107699420-107699420 + HCC70 COSM1605510 c.629T>G p.V210G Substitution - Missense 12:107697482-107697482 + pfg103T COSM4759945 c.782A>T p.D261V Substitution - Missense 12:107699410-107699410 + 1517_CLM COSM415640 c.211C>T p.R71C Substitution - Missense 12:107688694-107688694 + MO_1020 COSM5551603 c.424G>C p.D142H Substitution - Missense 12:107693018-107693018 + TCGA-AA-A00N-01 COSM276967 c.989G>A p.R330Q Substitution - Missense 12:107704659-107704659 + TCGA-34-5236-01 COSM691408 c.1463G>C p.G488A Substitution - Missense 12:107712177-107712177 + SC_9076 COSM5558806 c.549C>G p.L183L Substitution - coding silent 12:107696520-107696520 + CSCC-18-T COSM4532907 c.192G>A p.Q64Q Substitution - coding silent 12:107688675-107688675 + Gp5D COSM1945432 c.607T>C p.S203P Substitution - Missense 12:107696578-107696578 + TCGA-ER-A3ET-06 COSM3455597 c.999T>A p.D333E Substitution - Missense 12:107704669-107704669 + Pat_24_A COSM200524 c.212G>A p.R71H Substitution - Missense 12:107688695-107688695 + STC297 COSM5051294 c.261_263delTGA p.D90delD Deletion - In frame 12:107688744-107688746 + RKO COSM1945422 c.200G>A p.R67H Substitution - Missense 12:107688683-107688683 + TCGA-AM-5820-01 COSM3752872 c.1132A>G p.I378V Substitution - Missense 12:107708980-107708980 + TCGA-CD-A4MG-01 COSM200529 c.1417C>T p.R473* Substitution - Nonsense 12:107712131-107712131 + 2492724 COSM5724983 c.353T>C p.L118P Substitution - Missense 12:107692847-107692847 + SWE-4C COSM1179590 c.1417C>A p.R473R Substitution - coding silent 12:107712131-107712131 + 587332 COSM1222789 c.890T>C p.V297A Substitution - Missense 12:107703018-107703018 + CN-AML-NR-08-Dx COSM5425442 c.101G>A p.R34H Substitution - Missense 12:107688476-107688476 + BN24T COSM1605511 c.1092C>T p.D364D Substitution - coding silent 12:107708940-107708940 + BN24 COSM1605511 c.1092C>T p.D364D Substitution - coding silent 12:107708940-107708940 + Gp5D COSM1945418 c.48C>T p.G16G Substitution - coding silent 12:107685947-107685947 + 2492730 COSM5729003 c.569G>A p.S190N Substitution - Missense 12:107696540-107696540 + HX17T COSM1605512 c.1429G>A p.V477I Substitution - Missense 12:107712143-107712143 + CSCC-38-T COSM4510350 c.834C>T p.D278D Substitution - coding silent 12:107702962-107702962 + TCGA-BR-4361-01 COSM1945422 c.200G>A p.R67H Substitution - Missense 12:107688683-107688683 + T3446 COSM4719523 c.1291G>A p.G431R Substitution - Missense 12:107710405-107710405 + TCGA-A5-A0G9-01 COSM934510 c.1060T>C p.S354P Substitution - Missense 12:107704730-107704730 + 3N33-VS-3T33 COSM4980866 c.1164C>T p.I388I Substitution - coding silent 12:107709012-107709012 + 1115202 COSM5573451 c.1290+1G>T p.? Unknown 12:107709233-107709233 + 35M COSM5582284 c.1064C>A p.P355H Substitution - Missense 12:107704734-107704734 + 1238_T COSM3954112 c.200G>T p.R67L Substitution - Missense 12:107688683-107688683 + VACO4S COSM4657104 c.1115C>T p.A372V Substitution - Missense 12:107708963-107708963 + TCGA-AA-3672-01 COSM292805 c.419delG p.R140fs*5 Deletion - Frameshift 12:107693013-107693013 + HCT8 COSM1945424 c.245A>T p.E82V Substitution - Missense 12:107688728-107688728 + ESOSCC162T COSM1171866 c.27C>A p.C9* Substitution - Nonsense 12:107685926-107685926 + T2969 COSM3739404 c.703G>A p.G235R Substitution - Missense 12:107697556-107697556 + sysucc-311T COSM5477971 c.616A>C p.N206H Substitution - Missense 12:107697469-107697469 + FM403T COSM673560 c.1117C>T p.R373C Substitution - Missense 12:107708965-107708965 + TCGA-AD-6895-01 COSM1358479 c.100C>T p.R34C Substitution - Missense 12:107688475-107688475 + TCGA-A5-A0GW-01 COSM934508 c.778C>A p.L260I Substitution - Missense 12:107699406-107699406 + HCC70T COSM1605510 c.629T>G p.V210G Substitution - Missense 12:107697482-107697482 + Pat_60_B COSM5840017 c.1467delT p.F490fs*>12 Deletion - Frameshift 12:107712181-107712181 + Pat_63_B COSM5840015 c.311G>A p.G104D Substitution - Missense 12:107688794-107688794 + TCGA-AG-A002-01 COSM263187 c.221A>G p.E74G Substitution - Missense 12:107688704-107688704 + ESO-887 COSM1263588 c.1435G>A p.G479R Substitution - Missense 12:107712149-107712149 + PT55 COSM273164 c.1009C>T p.R337* Substitution - Nonsense 12:107704679-107704679 + HCT15 COSM1945424 c.245A>T p.E82V Substitution - Missense 12:107688728-107688728 + TCGA-C5-A3HE-01 COSM4827922 c.229G>A p.E77K Substitution - Missense 12:107688712-107688712 + T2932 COSM4719522 c.1227C>T p.Y409Y Substitution - coding silent 12:107709169-107709169 + TCGA-B5-A11E-01 COSM934514 c.1492C>A p.P498T Substitution - Missense 12:107712206-107712206 + TCGA-BF-A1PV-01 COSM3455598 c.1174G>A p.D392N Substitution - Missense 12:107709116-107709116 + 2492725 COSM5724983 c.353T>C p.L118P Substitution - Missense 12:107692847-107692847 + TCGA-AP-A0LM-01 COSM934509 c.856A>C p.M286L Substitution - Missense 12:107702984-107702984 + XHDG04 COSM4768266 c.1366C>T p.R456W Substitution - Missense 12:107710480-107710480 + TCGA-CZ-5451-01 COSM467729 c.236G>A p.G79D Substitution - Missense 12:107688719-107688719 + SNU-175 COSM1605511 c.1092C>T p.D364D Substitution - coding silent 12:107708940-107708940 + T473 COSM4719521 c.1078-2_1078-1delAG p.? Unknown 12:107708924-107708925 + TCGA-DM-A1D7-01 COSM1358481 c.1169-2A>T p.? Unknown 12:107709109-107709109 + CSCC-16-T COSM4494752 c.439C>G p.P147A Substitution - Missense 12:107693033-107693033 + TTC466 COSM934512 c.1203C>T p.L401L Substitution - coding silent 12:107709145-107709145 + RK308_C01 COSM3739404 c.703G>A p.G235R Substitution - Missense 12:107697556-107697556 + PD4120a COSM163870 c.1110G>A p.L370L Substitution - coding silent 12:107708958-107708958 + CN-AML-08-T COSM5425442 c.101G>A p.R34H Substitution - Missense 12:107688476-107688476 + GHE0776 COSM5714766 c.613+3A>C p.? Unknown 12:107696587-107696587 + 587260 COSM1222788 c.145G>A p.G49S Substitution - Missense 12:107688628-107688628 + TCGA-AP-A0LM-01 COSM934513 c.1252G>T p.D418Y Substitution - Missense 12:107709194-107709194 + 1517_PT COSM415640 c.211C>T p.R71C Substitution - Missense 12:107688694-107688694 + ESO-0023 COSM1263587 c.1492C>T p.P498S Substitution - Missense 12:107712206-107712206 + DLD1 COSM1945424 c.245A>T p.E82V Substitution - Missense 12:107688728-107688728 + Pat_70_A COSM5840016 c.1018C>T p.R340* Substitution - Nonsense 12:107704688-107704688 + YUDARE COSM1706226 c.592_593CC>TT p.P198F Substitution - Missense 12:107696563-107696564 + CSCC-16-T COSM4548315 c.443G>A p.S148N Substitution - Missense 12:107693037-107693037 + 234 COSM3731128 c.418C>T p.R140C Substitution - Missense 12:107693012-107693012 + TCGA-AA-3966-01 COSM273164 c.1009C>T p.R337* Substitution - Nonsense 12:107704679-107704679 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.506608;Hs.506652 12q23.3

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.D84G c.251A>G 12 108082511 COREAD A G Synonymous p.L416L c.1248A>G 12 108102967 STAD A G Synonymous p.V367V c.1101A>G 12 108102726 HNSC A T Missense p.D257V c.770A>T 12 108093175 CM A T Missense p.I397F c.1189A>T 12 108102908 SCLC C A Missense p.L260I c.778C>A 12 108093183 UCEC CC TT Missense p.P198F c.592_593delinsTT 12 108090340 CM C T Missense p.R71C c.211C>T 12 108082471 BLCA C T Nonsense p.R473* c.1417C>T 12 108105908 COREAD C T Synonymous p.L401L c.1203C>T 12 108102922 UCEC C T Synonymous p.R71R c.213C>T 12 108082473 HNSC G A Missense p.D392N c.1174G>A 12 108102893 CM G A Missense p.G479R c.1435G>A 12 108105926 ESCA G A Missense p.G79D c.236G>A 12 108082496 RCCC G A Synonymous p.K322K c.966G>A 12 108098413 CM G A Synonymous p.L132L c.396G>A 12 108086667 BRCA G A Synonymous p.L370L c.1110G>A 12 108102735 BRCA G C Missense p.D125H c.373G>C 12 108086644 HNSC G C Missense p.G488A c.1463G>C 12 108105954 LUSC G C Missense p.K244N c.732G>C 12 108091362 HNSC G T Synonymous p.G122G c.366G>T 12 108086637 LUAD T A Missense p.D333E c.999T>A 12 108098446 CM T G Missense p.I486M c.1458T>G 12 108105949 COREAD T - IntronicDeletion . c.1077+149delT 12 108098665 ESCA