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 12 48477416 48477416 + Missense_Mutation SNP G G T TCGA-OR-A5KO-01A-11D-A29I-10 TCGA-OR-A5KO-10A-01D-A29L-10 g.chr12:48477416G>T c.510C>A c.(508-510)agC>agA p.S170R BLCA 12 48468386 48468386 + Nonsense_Mutation SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr12:48468386G>A c.661C>T c.(661-663)Cga>Tga p.R221* BLCA 12 48482596 48482596 + Missense_Mutation SNP C C T TCGA-FD-A3B6-01A-21D-A20D-08 TCGA-FD-A3B6-10A-01D-A20D-08 g.chr12:48482596C>T c.368G>A c.(367-369)cGa>cAa p.R123Q BLCA 12 48482603 48482603 + Missense_Mutation SNP C C T TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr12:48482603C>T c.361G>A c.(361-363)Gaa>Aaa p.E121K BLCA 12 48491874 48491874 + Missense_Mutation SNP C C G TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr12:48491874C>G c.38G>C c.(37-39)gGa>gCa p.G13A BRCA 12 48439119 48439119 + Nonsense_Mutation SNP G G A TCGA-E9-A5FL-01A-11D-A27P-09 TCGA-E9-A5FL-10A-01D-A27P-09 g.chr12:48439119G>A c.1921C>T c.(1921-1923)Cga>Tga p.R641* BRCA 12 48439129 48439129 + Missense_Mutation SNP C C G TCGA-GM-A2D9-01A-11D-A18P-09 TCGA-GM-A2D9-11A-42D-A18P-09 g.chr12:48439129C>G c.1911G>C c.(1909-1911)gaG>gaC p.E637D BRCA 12 48468348 48468348 + Silent SNP T T A TCGA-EW-A1OX-01A-11D-A142-09 TCGA-EW-A1OX-10A-01D-A142-09 g.chr12:48468348T>A c.699A>T c.(697-699)tcA>tcT p.S233S BRCA 12 48468567 48468567 + Missense_Mutation SNP C C T TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr12:48468567C>T c.562G>A c.(562-564)Gaa>Aaa p.E188K BRCA 12 48477419 48477419 + Missense_Mutation SNP C C G TCGA-D8-A1JA-01A-11D-A13L-09 TCGA-D8-A1JA-10A-01W-A14R-09 g.chr12:48477419C>G c.507G>C c.(505-507)ttG>ttC p.L169F BRCA 12 48482684 48482684 + Missense_Mutation SNP C C T TCGA-AR-A24O-01A-11D-A167-09 TCGA-AR-A24O-10A-01D-A167-09 g.chr12:48482684C>T c.280G>A c.(280-282)Gca>Aca p.A94T BRCA 12 48491829 48491829 + Missense_Mutation SNP A A G TCGA-A2-A0T5-01A-21D-A099-09 TCGA-A2-A0T5-10A-01D-A099-09 g.chr12:48491829A>G c.83T>C c.(82-84)cTc>cCc p.L28P CESC 12 48457495 48457495 + Missense_Mutation SNP C C T TCGA-FU-A3HY-01A-11D-A21Q-09 TCGA-FU-A3HY-10A-01D-A21Q-09 g.chr12:48457495C>T c.1405G>A c.(1405-1407)Gag>Aag p.E469K CESC 12 48477376 48477376 + Missense_Mutation SNP C C T TCGA-EK-A3GJ-01A-21D-A20U-09 TCGA-EK-A3GJ-11A-11D-A20U-09 g.chr12:48477376C>T c.550G>A c.(550-552)Gag>Aag p.E184K COAD 12 48442766 48442766 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:48442766A>C c.1557T>G c.(1555-1557)ttT>ttG p.F519L COAD 12 48458872 48458872 + Silent SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr12:48458872T>C c.1251A>G c.(1249-1251)gaA>gaG p.E417E COAD 12 48468320 48468320 + Missense_Mutation SNP A A C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:48468320A>C c.727T>G c.(727-729)Tct>Gct p.S243A COAD 12 48490179 48490179 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:48490179C>T c.167G>A c.(166-168)cGa>cAa p.R56Q COAD 12 48491792 48491792 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr12:48491792C>T c.120G>A c.(118-120)tcG>tcA p.S40S COADREAD 12 48442766 48442766 + Missense_Mutation SNP A A C TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:48442766A>C c.1557T>G c.(1555-1557)ttT>ttG p.F519L COADREAD 12 48457593 48457593 + Missense_Mutation SNP C C T TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr12:48457593C>T c.1307G>A c.(1306-1308)cGt>cAt p.R436H COADREAD 12 48458872 48458872 + Silent SNP T T C TCGA-AA-3663-01A-01D-1719-10 TCGA-AA-3663-11A-01D-1719-10 g.chr12:48458872T>C c.1251A>G c.(1249-1251)gaA>gaG p.E417E COADREAD 12 48468157 48468157 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:48468157G>T c.890C>A c.(889-891)tCt>tAt p.S297Y COADREAD 12 48468320 48468320 + Missense_Mutation SNP A A C TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr12:48468320A>C c.727T>G c.(727-729)Tct>Gct p.S243A COADREAD 12 48490179 48490179 + Missense_Mutation SNP C C T TCGA-AA-3984-01A-02W-0995-10 TCGA-AA-3984-10A-01W-0999-10 g.chr12:48490179C>T c.167G>A c.(166-168)cGa>cAa p.R56Q COADREAD 12 48491792 48491792 + Silent SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr12:48491792C>T c.120G>A c.(118-120)tcG>tcA p.S40S ESCA 12 48468515 48468515 + Missense_Mutation SNP T T C TCGA-JY-A6FA-01A-11D-A33E-09 TCGA-JY-A6FA-10A-01D-A33H-09 g.chr12:48468515T>C c.614A>G c.(613-615)cAg>cGg p.Q205R ESCA 12 48491881 48491881 + Missense_Mutation SNP C C G TCGA-L5-A8NQ-01A-11D-A36J-09 TCGA-L5-A8NQ-11A-11D-A36M-09 g.chr12:48491881C>G c.31G>C c.(31-33)Gat>Cat p.D11H GBM 12 48465464 48465464 + Silent SNP C C T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 g.chr12:48465464C>T c.981G>A c.(979-981)caG>caA p.Q327Q GBMLGG 12 48465464 48465464 + Silent SNP C C T TCGA-76-6283-01A-11D-1845-08 TCGA-76-6283-10A-01D-1845-08 g.chr12:48465464C>T c.981G>A c.(979-981)caG>caA p.Q327Q HNSC 12 48457609 48457609 + Missense_Mutation SNP T T A TCGA-CN-4729-01A-01D-1434-08 TCGA-CN-4729-10A-01D-1434-08 g.chr12:48457609T>A c.1291A>T c.(1291-1293)Ata>Tta p.I431L HNSC 12 48458895 48458896 + Frame_Shift_Ins INS - - T TCGA-CQ-7063-01A-11D-2394-08 TCGA-CQ-7063-10A-01D-2394-08 g.chr12:48458895_48458896insT c.1227_1228insA c.(1225-1230)aaaggtfs p.G410fs HNSC 12 48458913 48458913 + Nonsense_Mutation SNP G G A TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr12:48458913G>A c.1210C>T c.(1210-1212)Caa>Taa p.Q404* HNSC 12 48468185 48468185 + Missense_Mutation SNP T T C TCGA-CV-7435-01A-11D-2129-08 TCGA-CV-7435-10A-01D-2129-08 g.chr12:48468185T>C c.862A>G c.(862-864)Act>Gct p.T288A HNSC 12 48477537 48477537 + Nonsense_Mutation SNP G G C TCGA-CV-7095-01A-21D-2012-08 TCGA-CV-7095-10A-01D-2013-08 g.chr12:48477537G>C c.389C>G c.(388-390)tCa>tGa p.S130* LIHC 12 48477423 48477423 + Missense_Mutation SNP A A G TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr12:48477423A>G c.503T>C c.(502-504)cTt>cCt p.L168P LIHC 12 48482714 48482714 + Missense_Mutation SNP A A G TCGA-DD-A1EG-01A-11D-A20W-10 TCGA-DD-A1EG-10A-01D-A20W-10 g.chr12:48482714A>G c.250T>C c.(250-252)Tca>Cca p.S84P LIHC 12 48491823 48491823 + Missense_Mutation SNP G G A TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr12:48491823G>A c.89C>T c.(88-90)cCa>cTa p.P30L LIHC 12 48491866 48491866 + Missense_Mutation SNP T T C TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr12:48491866T>C c.46A>G c.(46-48)Act>Gct p.T16A LUAD 12 48457499 48457499 + Silent SNP A A G TCGA-91-6849-01A-11D-1945-08 TCGA-91-6849-11A-01D-1945-08 g.chr12:48457499A>G c.1401T>C c.(1399-1401)aaT>aaC p.N467N LUAD 12 48468561 48468561 + Missense_Mutation SNP C C T TCGA-93-8067-01A-11D-2284-08 TCGA-93-8067-10A-01D-2284-08 g.chr12:48468561C>T c.568G>A c.(568-570)Gaa>Aaa p.E190K LUAD 12 48490160 48490160 + Silent SNP T T A TCGA-55-7227-01A-11D-2036-08 TCGA-55-7227-10A-01D-2036-08 g.chr12:48490160T>A c.186A>T c.(184-186)acA>acT p.T62T LUSC 12 48440158 48440158 + Missense_Mutation SNP C C G TCGA-60-2720-01A-01D-1522-08 TCGA-60-2720-11A-01D-1522-08 g.chr12:48440158C>G c.1853G>C c.(1852-1854)aGa>aCa p.R618T LUSC 12 48457586 48457586 + Silent SNP C C T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr12:48457586C>T c.1314G>A c.(1312-1314)ggG>ggA p.G438G LUSC 12 48458880 48458880 + Missense_Mutation SNP C C G TCGA-66-2783-01A-01D-1267-08 TCGA-66-2783-11A-01D-1267-08 g.chr12:48458880C>G c.1243G>C c.(1243-1245)Gat>Cat p.D415H LUSC 12 48482584 48482584 + Splice_Site SNP C C T TCGA-66-2763-01A-01D-1522-08 TCGA-66-2763-11A-01D-1522-08 g.chr12:48482584C>T c.380G>A c.(379-381)aGt>aAt p.S127N PRAD 12 48477397 48477397 + Nonsense_Mutation SNP G G A TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr12:48477397G>A c.529C>T c.(529-531)Cga>Tga p.R177* READ 12 48457593 48457593 + Missense_Mutation SNP C C T TCGA-DY-A1DC-01A-31D-A152-10 TCGA-DY-A1DC-10A-01D-A152-10 g.chr12:48457593C>T c.1307G>A c.(1306-1308)cGt>cAt p.R436H READ 12 48468157 48468157 + Missense_Mutation SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:48468157G>T c.890C>A c.(889-891)tCt>tAt p.S297Y SARC 12 48458904 48458904 + Missense_Mutation SNP G G T TCGA-DX-A6YZ-01A-12D-A351-09 TCGA-DX-A6YZ-10B-01D-A351-09 g.chr12:48458904G>T c.1219C>A c.(1219-1221)Caa>Aaa p.Q407K SARC 12 48459425 48459425 + Missense_Mutation SNP C C T TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 g.chr12:48459425C>T c.1073G>A c.(1072-1074)cGc>cAc p.R358H SKCM 12 48457594 48457594 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:48457594G>A c.1306C>T c.(1306-1308)Cgt>Tgt p.R436C SKCM 12 48458892 48458892 + Missense_Mutation SNP G G A TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr12:48458892G>A c.1231C>T c.(1231-1233)Cat>Tat p.H411Y SKCM 12 48458935 48458935 + Silent SNP C C T TCGA-RP-A694-06A-11D-A30X-08 TCGA-RP-A694-10A-01D-A30X-08 g.chr12:48458935C>T c.1188G>A c.(1186-1188)aaG>aaA p.K396K SKCM 12 48458952 48458952 + Missense_Mutation SNP G G A TCGA-EE-A2GS-06A-12D-A197-08 TCGA-EE-A2GS-10A-01D-A199-08 g.chr12:48458952G>A c.1171C>T c.(1171-1173)Cgt>Tgt p.R391C SKCM 12 48477454 48477454 + Missense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr12:48477454G>A c.472C>T c.(472-474)Cca>Tca p.P158S SKCM 12 48477508 48477508 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr12:48477508G>A c.418C>T c.(418-420)Cac>Tac p.H140Y SKCM 12 48482619 48482619 + Silent SNP G G A TCGA-DA-A1HV-06A-21D-A196-08 TCGA-DA-A1HV-10A-01D-A198-08 g.chr12:48482619G>A c.345C>T c.(343-345)agC>agT p.S115S SKCM 12 48482657 48482657 + Missense_Mutation SNP G G A TCGA-RP-A694-06A-11D-A30X-08 TCGA-RP-A694-10A-01D-A30X-08 g.chr12:48482657G>A c.307C>T c.(307-309)Cca>Tca p.P103S SKCM 12 48491808 48491808 + Missense_Mutation SNP G G A TCGA-FS-A1ZA-06A-11D-A197-08 TCGA-FS-A1ZA-10A-01D-A199-08 g.chr12:48491808G>A c.104C>T c.(103-105)cCa>cTa p.P35L

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation ALL-US 12 48459404 48459404 single base substitution G A 3_prime_UTR_variant ALL-US 12 48459404 48459404 single base substitution G A exon_variant ALL-US 12 48459404 48459404 single base substitution G A missense_variant A365V 1094C>T BLCA-US 12 48482596 48482596 single base substitution C T 3_prime_UTR_variant BLCA-US 12 48482596 48482596 single base substitution C T exon_variant BLCA-US 12 48482596 48482596 single base substitution C T missense_variant R116Q 347G>A BLCA-US 12 48482596 48482596 single base substitution C T missense_variant R123Q 368G>A BLCA-US 12 48482603 48482603 single base substitution C T 3_prime_UTR_variant BLCA-US 12 48482603 48482603 single base substitution C T exon_variant BLCA-US 12 48482603 48482603 single base substitution C T missense_variant E114K 340G>A BLCA-US 12 48482603 48482603 single base substitution C T missense_variant E121K 361G>A BRCA-EU 12 48431760 48431760 single base substitution A G downstream_gene_variant BRCA-EU 12 48431857 48431857 single base substitution C T downstream_gene_variant BRCA-EU 12 48432714 48432714 single base substitution C G downstream_gene_variant BRCA-EU 12 48433383 48433383 single base substitution T A downstream_gene_variant BRCA-EU 12 48433572 48433572 single base substitution C A downstream_gene_variant BRCA-EU 12 48433645 48433645 single base substitution G A downstream_gene_variant BRCA-EU 12 48437713 48437713 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 48437713 48437713 single base substitution C T downstream_gene_variant BRCA-EU 12 48438307 48438307 single base substitution T C 3_prime_UTR_variant BRCA-EU 12 48438307 48438307 single base substitution T C downstream_gene_variant BRCA-EU 12 48440508 48440508 single base substitution T C intron_variant BRCA-EU 12 48442439 48442439 deletion of <=200bp T - intron_variant BRCA-EU 12 48443366 48443366 single base substitution A C intron_variant BRCA-EU 12 48443655 48443655 single base substitution C T intron_variant BRCA-EU 12 48443723 48443723 single base substitution A C intron_variant BRCA-EU 12 48444251 48444251 single base substitution G A intron_variant BRCA-EU 12 48444302 48444302 single base substitution C T intron_variant BRCA-EU 12 48446825 48446825 single base substitution G A intron_variant BRCA-EU 12 48448096 48448096 single base substitution T C intron_variant BRCA-EU 12 48454065 48454065 single base substitution T A downstream_gene_variant BRCA-EU 12 48454065 48454065 single base substitution T A intron_variant BRCA-EU 12 48454506 48454506 single base substitution C A downstream_gene_variant BRCA-EU 12 48454506 48454506 single base substitution C A intron_variant BRCA-EU 12 48456193 48456193 single base substitution C G downstream_gene_variant BRCA-EU 12 48456193 48456193 single base substitution C G intron_variant BRCA-EU 12 48456712 48456712 single base substitution G C downstream_gene_variant BRCA-EU 12 48456712 48456712 single base substitution G C intron_variant BRCA-EU 12 48456713 48456713 single base substitution A T downstream_gene_variant BRCA-EU 12 48456713 48456713 single base substitution A T intron_variant BRCA-EU 12 48457373 48457373 single base substitution G A downstream_gene_variant BRCA-EU 12 48457373 48457373 single base substitution G A intron_variant BRCA-EU 12 48457593 48457593 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 48457593 48457593 single base substitution C T exon_variant BRCA-EU 12 48457593 48457593 single base substitution C T missense_variant R436H 1307G>A BRCA-EU 12 48458000 48458000 single base substitution A C intron_variant BRCA-EU 12 48458220 48458220 single base substitution A T intron_variant BRCA-EU 12 48458767 48458767 single base substitution C G intron_variant BRCA-EU 12 48458896 48458896 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 12 48458896 48458896 deletion of <=200bp T - exon_variant BRCA-EU 12 48458896 48458896 deletion of <=200bp T - frameshift_variant K409 BRCA-EU 12 48459105 48459105 single base substitution G A intron_variant BRCA-EU 12 48459480 48459480 single base substitution A T intron_variant BRCA-EU 12 48459480 48459480 single base substitution A T upstream_gene_variant BRCA-EU 12 48460108 48460108 single base substitution C A intron_variant BRCA-EU 12 48460108 48460108 single base substitution C A upstream_gene_variant BRCA-EU 12 48460697 48460697 deletion of <=200bp A - intron_variant BRCA-EU 12 48460697 48460697 deletion of <=200bp A - upstream_gene_variant BRCA-EU 12 48461887 48461887 single base substitution C A intron_variant BRCA-EU 12 48461887 48461887 single base substitution C A upstream_gene_variant BRCA-EU 12 48465552 48465552 single base substitution T G intron_variant BRCA-EU 12 48466943 48466943 single base substitution T C intron_variant BRCA-EU 12 48467382 48467382 single base substitution C A intron_variant BRCA-EU 12 48468446 48468446 single base substitution C A intron_variant BRCA-EU 12 48470256 48470256 single base substitution C T downstream_gene_variant BRCA-EU 12 48470256 48470256 single base substitution C T intron_variant BRCA-EU 12 48470319 48470367 multiple base substitution (>=2bp and <=200bp) TGGCCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATGCGCCCACCTTG TGGCCACAATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCA downstream_gene_variant BRCA-EU 12 48470319 48470367 multiple base substitution (>=2bp and <=200bp) TGGCCAGGCTGGTCTCGAACTCCTAACCTCAAGTGATGCGCCCACCTTG TGGCCACAATGGTCTCGATCTCCTGACCTCGTGATCTGCCTGCCTCA intron_variant BRCA-EU 12 48470535 48470535 single base substitution C G downstream_gene_variant BRCA-EU 12 48470535 48470535 single base substitution C G intron_variant BRCA-EU 12 48470592 48470592 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 48470592 48470592 deletion of <=200bp T - intron_variant BRCA-EU 12 48470947 48470951 deletion of <=200bp TTATA - downstream_gene_variant BRCA-EU 12 48470947 48470951 deletion of <=200bp TTATA - intron_variant BRCA-EU 12 48471352 48471352 single base substitution C G downstream_gene_variant BRCA-EU 12 48471352 48471352 single base substitution C G intron_variant BRCA-EU 12 48471369 48471369 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 48471369 48471369 deletion of <=200bp T - intron_variant BRCA-EU 12 48473390 48473391 deletion of <=200bp CT - downstream_gene_variant BRCA-EU 12 48473390 48473391 deletion of <=200bp CT - intron_variant BRCA-EU 12 48473749 48473749 single base substitution T C downstream_gene_variant BRCA-EU 12 48473749 48473749 single base substitution T C intron_variant BRCA-EU 12 48474191 48474191 single base substitution C G downstream_gene_variant BRCA-EU 12 48474191 48474191 single base substitution C G exon_variant BRCA-EU 12 48474191 48474191 single base substitution C G intron_variant BRCA-EU 12 48474202 48474202 single base substitution C G downstream_gene_variant BRCA-EU 12 48474202 48474202 single base substitution C G exon_variant BRCA-EU 12 48474202 48474202 single base substitution C G intron_variant BRCA-EU 12 48475521 48475521 deletion of <=200bp T - downstream_gene_variant BRCA-EU 12 48475521 48475521 deletion of <=200bp T - intron_variant BRCA-EU 12 48475756 48475756 single base substitution C T downstream_gene_variant BRCA-EU 12 48475756 48475756 single base substitution C T intron_variant BRCA-EU 12 48476699 48476699 single base substitution T G downstream_gene_variant BRCA-EU 12 48476699 48476699 single base substitution T G intron_variant BRCA-EU 12 48478375 48478375 single base substitution G A downstream_gene_variant BRCA-EU 12 48478375 48478375 single base substitution G A intron_variant BRCA-EU 12 48479846 48479846 single base substitution C T downstream_gene_variant BRCA-EU 12 48479846 48479846 single base substitution C T intron_variant BRCA-EU 12 48482379 48482379 single base substitution C G exon_variant BRCA-EU 12 48482379 48482379 single base substitution C G intron_variant BRCA-EU 12 48482421 48482421 single base substitution T G exon_variant BRCA-EU 12 48482421 48482421 single base substitution T G intron_variant BRCA-EU 12 48483214 48483214 single base substitution G A intron_variant BRCA-EU 12 48483601 48483601 single base substitution C G intron_variant BRCA-EU 12 48485147 48485147 single base substitution C G intron_variant BRCA-EU 12 48487407 48487407 single base substitution T A downstream_gene_variant BRCA-EU 12 48487407 48487407 single base substitution T A intron_variant BRCA-EU 12 48489838 48489838 single base substitution A C downstream_gene_variant BRCA-EU 12 48489838 48489838 single base substitution A C intron_variant BRCA-EU 12 48491223 48491223 single base substitution T A downstream_gene_variant BRCA-EU 12 48491223 48491223 single base substitution T A intron_variant BRCA-EU 12 48491223 48491223 single base substitution T A upstream_gene_variant BRCA-EU 12 48491487 48491487 single base substitution T C downstream_gene_variant BRCA-EU 12 48491487 48491487 single base substitution T C intron_variant BRCA-EU 12 48491487 48491487 single base substitution T C upstream_gene_variant BRCA-EU 12 48491904 48491904 single base substitution T A 5_prime_UTR_variant BRCA-EU 12 48491904 48491904 single base substitution T A exon_variant BRCA-EU 12 48491904 48491904 single base substitution T A missense_variant D35V 104A>T BRCA-EU 12 48491904 48491904 single base substitution T A missense_variant D3V 8A>T BRCA-EU 12 48491904 48491904 single base substitution T A upstream_gene_variant BRCA-EU 12 48493561 48493561 single base substitution C T intron_variant BRCA-EU 12 48493561 48493561 single base substitution C T upstream_gene_variant BRCA-EU 12 48497412 48497412 single base substitution C G intron_variant BRCA-EU 12 48497412 48497412 single base substitution C G upstream_gene_variant BRCA-EU 12 48497412 48497412 single base substitution C T intron_variant BRCA-EU 12 48497412 48497412 single base substitution C T upstream_gene_variant BRCA-EU 12 48498114 48498114 single base substitution G C intron_variant BRCA-EU 12 48498114 48498114 single base substitution G C upstream_gene_variant BRCA-EU 12 48498601 48498601 single base substitution C T intron_variant BRCA-EU 12 48498601 48498601 single base substitution C T upstream_gene_variant BRCA-EU 12 48500078 48500078 single base substitution C G 5_prime_UTR_variant BRCA-EU 12 48500078 48500078 single base substitution C G upstream_gene_variant BRCA-EU 12 48501168 48501168 deletion of <=200bp C - upstream_gene_variant BRCA-EU 12 48501474 48501474 single base substitution G A upstream_gene_variant BRCA-EU 12 48502189 48502189 single base substitution G C upstream_gene_variant BRCA-EU 12 48502683 48502683 single base substitution C G upstream_gene_variant BRCA-EU 12 48503620 48503620 single base substitution C T upstream_gene_variant BRCA-EU 12 48503690 48503690 single base substitution T C upstream_gene_variant BRCA-EU 12 48504273 48504273 single base substitution C G upstream_gene_variant BRCA-FR 12 48437713 48437713 single base substitution C T 3_prime_UTR_variant BRCA-FR 12 48437713 48437713 single base substitution C T downstream_gene_variant BRCA-FR 12 48444251 48444251 single base substitution G A intron_variant BRCA-FR 12 48458000 48458000 single base substitution A C intron_variant BRCA-FR 12 48459105 48459105 single base substitution G A intron_variant BRCA-FR 12 48475756 48475756 single base substitution C T downstream_gene_variant BRCA-FR 12 48475756 48475756 single base substitution C T intron_variant BRCA-FR 12 48479846 48479846 single base substitution C T downstream_gene_variant BRCA-FR 12 48479846 48479846 single base substitution C T intron_variant BRCA-FR 12 48495742 48495742 single base substitution C G intron_variant BRCA-FR 12 48495742 48495742 single base substitution C G upstream_gene_variant BRCA-FR 12 48498114 48498114 single base substitution G C intron_variant BRCA-FR 12 48498114 48498114 single base substitution G C upstream_gene_variant BRCA-FR 12 48500078 48500078 single base substitution C G 5_prime_UTR_variant BRCA-FR 12 48500078 48500078 single base substitution C G upstream_gene_variant BRCA-FR 12 48501344 48501344 single base substitution G T upstream_gene_variant BRCA-UK 12 48468657 48468657 single base substitution C G intron_variant BRCA-US 12 48439119 48439119 single base substitution G A 3_prime_UTR_variant BRCA-US 12 48439119 48439119 single base substitution G A stop_gained R640* 1918C>T BRCA-US 12 48439119 48439119 single base substitution G A stop_gained R641* 1921C>T BRCA-US 12 48439129 48439129 single base substitution C G 3_prime_UTR_variant BRCA-US 12 48439129 48439129 single base substitution C G missense_variant E636D 1908G>C BRCA-US 12 48439129 48439129 single base substitution C G missense_variant E637D 1911G>C BRCA-US 12 48468348 48468348 single base substitution T A 3_prime_UTR_variant BRCA-US 12 48468348 48468348 single base substitution T A synonymous_variant S233S 699A>T BRCA-US 12 48468567 48468567 single base substitution C T 3_prime_UTR_variant BRCA-US 12 48468567 48468567 single base substitution C T missense_variant E188K 562G>A BRCA-US 12 48477419 48477419 single base substitution C G 3_prime_UTR_variant BRCA-US 12 48477419 48477419 single base substitution C G downstream_gene_variant BRCA-US 12 48477419 48477419 single base substitution C G exon_variant BRCA-US 12 48477419 48477419 single base substitution C G missense_variant L169F 507G>C BRCA-US 12 48482684 48482684 single base substitution C T 3_prime_UTR_variant BRCA-US 12 48482684 48482684 single base substitution C T exon_variant BRCA-US 12 48482684 48482684 single base substitution C T missense_variant A87T 259G>A BRCA-US 12 48482684 48482684 single base substitution C T missense_variant A94T 280G>A BRCA-US 12 48491829 48491829 single base substitution A G exon_variant BRCA-US 12 48491829 48491829 single base substitution A G missense_variant L21P 62T>C BRCA-US 12 48491829 48491829 single base substitution A G missense_variant L28P 83T>C BRCA-US 12 48491829 48491829 single base substitution A G missense_variant L60P 179T>C BRCA-US 12 48491829 48491829 single base substitution A G upstream_gene_variant BTCA-JP 12 48458859 48458859 single base substitution C A 3_prime_UTR_variant BTCA-JP 12 48458859 48458859 single base substitution C A exon_variant BTCA-JP 12 48458859 48458859 single base substitution C A stop_gained E422* 1264G>T BTCA-JP 12 48458896 48458896 insertion of <=200bp - T 3_prime_UTR_variant BTCA-JP 12 48458896 48458896 insertion of <=200bp - T exon_variant BTCA-JP 12 48458896 48458896 insertion of <=200bp - T frameshift_variant K409K? BTCA-JP 12 48468202 48468202 single base substitution C G 3_prime_UTR_variant BTCA-JP 12 48468202 48468202 single base substitution C G missense_variant G282A 845G>C BTCA-JP 12 48468599 48468599 single base substitution A C intron_variant CESC-US 12 48457495 48457495 single base substitution C T exon_variant CESC-US 12 48457495 48457495 single base substitution C T missense_variant E469K 1405G>A CESC-US 12 48457495 48457495 single base substitution C T splice_region_variant CESC-US 12 48477376 48477376 single base substitution C T downstream_gene_variant CESC-US 12 48477376 48477376 single base substitution C T missense_variant E184K 550G>A CESC-US 12 48477376 48477376 single base substitution C T splice_region_variant CESC-US 12 48482958 48482958 single base substitution G A exon_variant CESC-US 12 48482958 48482958 single base substitution G A intron_variant CESC-US 12 48482958 48482958 single base substitution G A synonymous_variant F145F 435C>T CLLE-ES 12 48434829 48434829 single base substitution G A downstream_gene_variant CLLE-ES 12 48462927 48462928 deletion of <=200bp CT - intron_variant CLLE-ES 12 48462927 48462928 deletion of <=200bp CT - upstream_gene_variant CLLE-ES 12 48485803 48485803 single base substitution A T intron_variant CLLE-ES 12 48498040 48498046 deletion of <=200bp GGGGGGG - intron_variant CLLE-ES 12 48498040 48498046 deletion of <=200bp GGGGGGG - upstream_gene_variant CLLE-ES 12 48498978 48498978 single base substitution T G intron_variant CLLE-ES 12 48498978 48498978 single base substitution T G upstream_gene_variant COAD-US 12 48458872 48458872 single base substitution T C 3_prime_UTR_variant COAD-US 12 48458872 48458872 single base substitution T C exon_variant COAD-US 12 48458872 48458872 single base substitution T C synonymous_variant E417E 1251A>G COAD-US 12 48491792 48491792 single base substitution C T exon_variant COAD-US 12 48491792 48491792 single base substitution C T synonymous_variant S33S 99G>A COAD-US 12 48491792 48491792 single base substitution C T synonymous_variant S40S 120G>A COAD-US 12 48491792 48491792 single base substitution C T synonymous_variant S72S 216G>A COAD-US 12 48491792 48491792 single base substitution C T upstream_gene_variant COCA-CN 12 48457701 48457701 single base substitution A C intron_variant COCA-CN 12 48458986 48458986 single base substitution T C 3_prime_UTR_variant COCA-CN 12 48458986 48458986 single base substitution T C exon_variant COCA-CN 12 48458986 48458986 single base substitution T C synonymous_variant E379E 1137A>G COCA-CN 12 48479068 48479068 single base substitution A G downstream_gene_variant COCA-CN 12 48479068 48479068 single base substitution A G intron_variant COCA-CN 12 48479322 48479322 single base substitution C A downstream_gene_variant COCA-CN 12 48479322 48479322 single base substitution C A intron_variant COCA-CN 12 48491813 48491813 single base substitution A C exon_variant COCA-CN 12 48491813 48491813 single base substitution A C synonymous_variant G26G 78T>G COCA-CN 12 48491813 48491813 single base substitution A C synonymous_variant G33G 99T>G COCA-CN 12 48491813 48491813 single base substitution A C synonymous_variant G65G 195T>G COCA-CN 12 48491813 48491813 single base substitution A C upstream_gene_variant COCA-CN 12 48492607 48492607 single base substitution T C intron_variant COCA-CN 12 48492607 48492607 single base substitution T C upstream_gene_variant COCA-CN 12 48495329 48495329 single base substitution T C intron_variant COCA-CN 12 48495329 48495329 single base substitution T C upstream_gene_variant COCA-CN 12 48498019 48498019 single base substitution G T intron_variant COCA-CN 12 48498019 48498019 single base substitution G T upstream_gene_variant COCA-CN 12 48499100 48499100 single base substitution A G intron_variant COCA-CN 12 48499100 48499100 single base substitution A G upstream_gene_variant COCA-CN 12 48499401 48499401 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 12 48499401 48499401 single base substitution G A intron_variant COCA-CN 12 48499401 48499401 single base substitution G A upstream_gene_variant COCA-CN 12 48501045 48501045 single base substitution G A upstream_gene_variant COCA-CN 12 48502003 48502003 single base substitution A G upstream_gene_variant EOPC-DE 12 48454004 48454004 single base substitution T C downstream_gene_variant EOPC-DE 12 48454004 48454004 single base substitution T C intron_variant ESAD-UK 12 48432168 48432168 single base substitution T C downstream_gene_variant ESAD-UK 12 48437154 48437154 single base substitution G C 3_prime_UTR_variant ESAD-UK 12 48437154 48437154 single base substitution G C downstream_gene_variant ESAD-UK 12 48439113 48439113 single base substitution G A 3_prime_UTR_variant ESAD-UK 12 48439113 48439113 single base substitution G A missense_variant L642F 1924C>T ESAD-UK 12 48439113 48439113 single base substitution G A missense_variant L643F 1927C>T ESAD-UK 12 48441268 48441268 single base substitution C G intron_variant ESAD-UK 12 48441745 48441745 single base substitution C T intron_variant ESAD-UK 12 48446725 48446725 single base substitution C A intron_variant ESAD-UK 12 48446762 48446762 single base substitution C A intron_variant ESAD-UK 12 48446984 48446984 single base substitution T C intron_variant ESAD-UK 12 48447414 48447414 single base substitution C G intron_variant ESAD-UK 12 48447535 48447535 single base substitution C G intron_variant ESAD-UK 12 48447549 48447549 single base substitution C T intron_variant ESAD-UK 12 48447666 48447666 single base substitution C T intron_variant ESAD-UK 12 48448166 48448166 single base substitution C A intron_variant ESAD-UK 12 48450564 48450564 insertion of <=200bp - A intron_variant ESAD-UK 12 48450566 48450568 deletion of <=200bp CAT - intron_variant ESAD-UK 12 48451677 48451677 single base substitution G C intron_variant ESAD-UK 12 48458896 48458896 deletion of <=200bp T - 3_prime_UTR_variant ESAD-UK 12 48458896 48458896 deletion of <=200bp T - exon_variant ESAD-UK 12 48458896 48458896 deletion of <=200bp T - frameshift_variant K409 ESAD-UK 12 48463252 48463252 single base substitution T A intron_variant ESAD-UK 12 48463252 48463252 single base substitution T A upstream_gene_variant ESAD-UK 12 48466090 48466090 single base substitution C G intron_variant ESAD-UK 12 48467334 48467334 single base substitution T C intron_variant ESAD-UK 12 48469001 48469004 deletion of <=200bp AAAC - downstream_gene_variant ESAD-UK 12 48469001 48469004 deletion of <=200bp AAAC - intron_variant ESAD-UK 12 48470798 48470798 single base substitution C T downstream_gene_variant ESAD-UK 12 48470798 48470798 single base substitution C T intron_variant ESAD-UK 12 48471458 48471458 single base substitution T C downstream_gene_variant ESAD-UK 12 48471458 48471458 single base substitution T C intron_variant ESAD-UK 12 48475217 48475217 deletion of <=200bp A - downstream_gene_variant ESAD-UK 12 48475217 48475217 deletion of <=200bp A - intron_variant ESAD-UK 12 48478701 48478701 single base substitution T C downstream_gene_variant ESAD-UK 12 48478701 48478701 single base substitution T C intron_variant ESAD-UK 12 48486477 48486477 deletion of <=200bp A - intron_variant ESAD-UK 12 48487771 48487771 single base substitution G A downstream_gene_variant ESAD-UK 12 48487771 48487771 single base substitution G A intron_variant ESAD-UK 12 48488611 48488611 insertion of <=200bp - A downstream_gene_variant ESAD-UK 12 48488611 48488611 insertion of <=200bp - A intron_variant ESAD-UK 12 48491207 48491207 single base substitution C G downstream_gene_variant ESAD-UK 12 48491207 48491207 single base substitution C G intron_variant ESAD-UK 12 48491207 48491207 single base substitution C G upstream_gene_variant ESAD-UK 12 48491469 48491469 single base substitution A T downstream_gene_variant ESAD-UK 12 48491469 48491469 single base substitution A T intron_variant ESAD-UK 12 48491469 48491469 single base substitution A T upstream_gene_variant ESAD-UK 12 48491705 48491705 single base substitution A G exon_variant ESAD-UK 12 48491705 48491705 single base substitution A G intron_variant ESAD-UK 12 48491705 48491705 single base substitution A G upstream_gene_variant ESAD-UK 12 48497680 48497680 single base substitution G C intron_variant ESAD-UK 12 48497680 48497680 single base substitution G C upstream_gene_variant ESAD-UK 12 48499012 48499012 single base substitution T C intron_variant ESAD-UK 12 48499012 48499012 single base substitution T C upstream_gene_variant ESAD-UK 12 48500174 48500174 insertion of <=200bp - T upstream_gene_variant ESAD-UK 12 48504423 48504423 single base substitution G C upstream_gene_variant ESAD-UK 12 48504424 48504424 single base substitution G A upstream_gene_variant ESCA-CN 12 48468543 48468543 single base substitution G A 3_prime_UTR_variant ESCA-CN 12 48468543 48468543 single base substitution G A stop_gained Q196* 586C>T ESCA-CN 12 48478664 48478664 single base substitution T C downstream_gene_variant ESCA-CN 12 48478664 48478664 single base substitution T C intron_variant ESCA-CN 12 48501161 48501161 single base substitution A T upstream_gene_variant LAML-KR 12 48472006 48472006 single base substitution T C downstream_gene_variant LAML-KR 12 48472006 48472006 single base substitution T C intron_variant LAML-KR 12 48496199 48496199 single base substitution A G intron_variant LAML-KR 12 48496199 48496199 single base substitution A G upstream_gene_variant LAML-KR 12 48496202 48496202 single base substitution A G intron_variant LAML-KR 12 48496202 48496202 single base substitution A G upstream_gene_variant LICA-FR 12 48466817 48466817 single base substitution C T intron_variant LICA-FR 12 48475354 48475354 insertion of <=200bp - T downstream_gene_variant LICA-FR 12 48475354 48475354 insertion of <=200bp - T intron_variant LICA-FR 12 48477441 48477441 single base substitution C T 3_prime_UTR_variant LICA-FR 12 48477441 48477441 single base substitution C T downstream_gene_variant LICA-FR 12 48477441 48477441 single base substitution C T exon_variant LICA-FR 12 48477441 48477441 single base substitution C T missense_variant G162D 485G>A LICA-FR 12 48493968 48493968 single base substitution T C intron_variant LICA-FR 12 48493968 48493968 single base substitution T C upstream_gene_variant LIHC-US 12 48482714 48482714 single base substitution A G exon_variant LIHC-US 12 48482714 48482714 single base substitution A G missense_variant S77P 229T>C LIHC-US 12 48482714 48482714 single base substitution A G missense_variant S84P 250T>C LIHC-US 12 48482714 48482714 single base substitution A G synonymous_variant A159A 477T>C LIHC-US 12 48491823 48491823 single base substitution G A exon_variant LIHC-US 12 48491823 48491823 single base substitution G A missense_variant P23L 68C>T LIHC-US 12 48491823 48491823 single base substitution G A missense_variant P30L 89C>T LIHC-US 12 48491823 48491823 single base substitution G A missense_variant P62L 185C>T LIHC-US 12 48491823 48491823 single base substitution G A upstream_gene_variant LIHC-US 12 48491866 48491866 single base substitution T C exon_variant LIHC-US 12 48491866 48491866 single base substitution T C missense_variant T16A 46A>G LIHC-US 12 48491866 48491866 single base substitution T C missense_variant T48A 142A>G LIHC-US 12 48491866 48491866 single base substitution T C missense_variant T9A 25A>G LIHC-US 12 48491866 48491866 single base substitution T C upstream_gene_variant LINC-JP 12 48442240 48442240 single base substitution C T intron_variant LINC-JP 12 48444505 48444505 single base substitution G A intron_variant LINC-JP 12 48444506 48444506 single base substitution C A intron_variant LINC-JP 12 48455656 48455656 single base substitution T C downstream_gene_variant LINC-JP 12 48455656 48455656 single base substitution T C intron_variant LINC-JP 12 48465522 48465522 single base substitution C A intron_variant LINC-JP 12 48477001 48477001 single base substitution T C downstream_gene_variant LINC-JP 12 48477001 48477001 single base substitution T C intron_variant LINC-JP 12 48479186 48479186 single base substitution T C downstream_gene_variant LINC-JP 12 48479186 48479186 single base substitution T C intron_variant LINC-JP 12 48479342 48479342 single base substitution C T downstream_gene_variant LINC-JP 12 48479342 48479342 single base substitution C T intron_variant LINC-JP 12 48482249 48482249 single base substitution A C downstream_gene_variant LINC-JP 12 48482249 48482249 single base substitution A C intron_variant LINC-JP 12 48482629 48482629 single base substitution G T 3_prime_UTR_variant LINC-JP 12 48482629 48482629 single base substitution G T exon_variant LINC-JP 12 48482629 48482629 single base substitution G T stop_gained S105* 314C>A LINC-JP 12 48482629 48482629 single base substitution G T stop_gained S112* 335C>A LINC-JP 12 48486589 48486589 single base substitution G A downstream_gene_variant LINC-JP 12 48486589 48486589 single base substitution G A intron_variant LINC-JP 12 48494008 48494008 single base substitution T C intron_variant LINC-JP 12 48494008 48494008 single base substitution T C upstream_gene_variant LINC-JP 12 48494279 48494279 single base substitution C T intron_variant LINC-JP 12 48494279 48494279 single base substitution C T upstream_gene_variant LINC-JP 12 48497621 48497621 single base substitution G A intron_variant LINC-JP 12 48497621 48497621 single base substitution G A upstream_gene_variant LINC-JP 12 48499226 48499226 single base substitution G A 5_prime_UTR_variant LINC-JP 12 48499226 48499226 single base substitution G A intron_variant LINC-JP 12 48499226 48499226 single base substitution G A missense_variant P4L 11C>T LINC-JP 12 48499226 48499226 single base substitution G A upstream_gene_variant LINC-JP 12 48501918 48501918 single base substitution A T upstream_gene_variant LIRI-JP 12 48436187 48436187 single base substitution A C downstream_gene_variant LIRI-JP 12 48438236 48438236 single base substitution C G 3_prime_UTR_variant LIRI-JP 12 48438236 48438236 single base substitution C G downstream_gene_variant LIRI-JP 12 48443040 48443040 single base substitution C T intron_variant LIRI-JP 12 48448538 48448538 single base substitution A T intron_variant LIRI-JP 12 48457293 48457293 single base substitution T G downstream_gene_variant LIRI-JP 12 48457293 48457293 single base substitution T G intron_variant LIRI-JP 12 48459462 48459462 single base substitution T C exon_variant LIRI-JP 12 48459462 48459462 single base substitution T C missense_variant T346A 1036A>G LIRI-JP 12 48459462 48459462 single base substitution T C splice_region_variant LIRI-JP 12 48460811 48460811 single base substitution T G intron_variant LIRI-JP 12 48460811 48460811 single base substitution T G upstream_gene_variant LIRI-JP 12 48463492 48463492 single base substitution T C intron_variant LIRI-JP 12 48463492 48463492 single base substitution T C upstream_gene_variant LIRI-JP 12 48466212 48466212 single base substitution C A intron_variant LIRI-JP 12 48468507 48468507 single base substitution T C 3_prime_UTR_variant LIRI-JP 12 48468507 48468507 single base substitution T C missense_variant I208V 622A>G LIRI-JP 12 48469439 48469439 single base substitution G A downstream_gene_variant LIRI-JP 12 48469439 48469439 single base substitution G A intron_variant LIRI-JP 12 48470237 48470237 single base substitution A G downstream_gene_variant LIRI-JP 12 48470237 48470237 single base substitution A G intron_variant LIRI-JP 12 48472343 48472343 single base substitution G A downstream_gene_variant LIRI-JP 12 48472343 48472343 single base substitution G A intron_variant LIRI-JP 12 48473365 48473365 single base substitution T C downstream_gene_variant LIRI-JP 12 48473365 48473365 single base substitution T C intron_variant LIRI-JP 12 48474543 48474543 single base substitution T C downstream_gene_variant LIRI-JP 12 48474543 48474543 single base substitution T C intron_variant LIRI-JP 12 48475306 48475306 single base substitution T C downstream_gene_variant LIRI-JP 12 48475306 48475306 single base substitution T C intron_variant LIRI-JP 12 48478521 48478521 single base substitution G T downstream_gene_variant LIRI-JP 12 48478521 48478521 single base substitution G T intron_variant LIRI-JP 12 48478904 48478904 single base substitution C A downstream_gene_variant LIRI-JP 12 48478904 48478904 single base substitution C A intron_variant LIRI-JP 12 48479905 48479905 single base substitution T C downstream_gene_variant LIRI-JP 12 48479905 48479905 single base substitution T C intron_variant LIRI-JP 12 48481035 48481035 single base substitution T C downstream_gene_variant LIRI-JP 12 48481035 48481035 single base substitution T C intron_variant LIRI-JP 12 48481699 48481699 single base substitution T C downstream_gene_variant LIRI-JP 12 48481699 48481699 single base substitution T C intron_variant LIRI-JP 12 48482804 48482804 single base substitution G A intron_variant LIRI-JP 12 48485423 48485423 single base substitution A G intron_variant LIRI-JP 12 48486711 48486711 single base substitution A G downstream_gene_variant LIRI-JP 12 48486711 48486711 single base substitution A G intron_variant LIRI-JP 12 48486882 48486882 single base substitution G C downstream_gene_variant LIRI-JP 12 48486882 48486882 single base substitution G C intron_variant LIRI-JP 12 48487661 48487661 single base substitution A T downstream_gene_variant LIRI-JP 12 48487661 48487661 single base substitution A T intron_variant LIRI-JP 12 48487894 48487894 single base substitution A T downstream_gene_variant LIRI-JP 12 48487894 48487894 single base substitution A T intron_variant LIRI-JP 12 48490519 48490519 single base substitution G A downstream_gene_variant LIRI-JP 12 48490519 48490519 single base substitution G A intron_variant LIRI-JP 12 48490519 48490519 single base substitution G A upstream_gene_variant LIRI-JP 12 48491401 48491401 single base substitution G C downstream_gene_variant LIRI-JP 12 48491401 48491401 single base substitution G C intron_variant LIRI-JP 12 48491401 48491401 single base substitution G C upstream_gene_variant LIRI-JP 12 48495083 48495083 single base substitution T C intron_variant LIRI-JP 12 48495083 48495083 single base substitution T C upstream_gene_variant LIRI-JP 12 48495571 48495571 single base substitution G A intron_variant LIRI-JP 12 48495571 48495571 single base substitution G A upstream_gene_variant LIRI-JP 12 48495883 48495883 single base substitution T C intron_variant LIRI-JP 12 48495883 48495883 single base substitution T C upstream_gene_variant LIRI-JP 12 48497264 48497264 single base substitution A G intron_variant LIRI-JP 12 48497264 48497264 single base substitution A G upstream_gene_variant LIRI-JP 12 48500509 48500509 single base substitution G A upstream_gene_variant LIRI-JP 12 48500513 48500513 single base substitution C G upstream_gene_variant LIRI-JP 12 48501151 48501151 single base substitution G A upstream_gene_variant LUSC-KR 12 48431943 48431943 single base substitution C G downstream_gene_variant LUSC-KR 12 48434581 48434581 single base substitution C A downstream_gene_variant LUSC-KR 12 48446985 48446985 single base substitution G A intron_variant LUSC-KR 12 48447641 48447641 single base substitution T G intron_variant LUSC-KR 12 48448335 48448335 single base substitution G A intron_variant LUSC-KR 12 48453329 48453329 single base substitution C G downstream_gene_variant LUSC-KR 12 48453329 48453329 single base substitution C G intron_variant LUSC-KR 12 48462264 48462264 single base substitution G A intron_variant LUSC-KR 12 48462264 48462264 single base substitution G A upstream_gene_variant LUSC-KR 12 48463203 48463203 single base substitution T G intron_variant LUSC-KR 12 48463203 48463203 single base substitution T G upstream_gene_variant LUSC-KR 12 48463232 48463232 single base substitution T G intron_variant LUSC-KR 12 48463232 48463232 single base substitution T G upstream_gene_variant LUSC-KR 12 48465468 48465468 single base substitution G T 3_prime_UTR_variant LUSC-KR 12 48465468 48465468 single base substitution G T missense_variant S326Y 977C>A LUSC-KR 12 48476460 48476460 single base substitution A G downstream_gene_variant LUSC-KR 12 48476460 48476460 single base substitution A G intron_variant LUSC-KR 12 48480981 48480981 single base substitution A T downstream_gene_variant LUSC-KR 12 48480981 48480981 single base substitution A T intron_variant LUSC-KR 12 48484203 48484203 single base substitution C G intron_variant LUSC-KR 12 48498250 48498250 single base substitution C G intron_variant LUSC-KR 12 48498250 48498250 single base substitution C G upstream_gene_variant LUSC-US 12 48440158 48440158 single base substitution C G 3_prime_UTR_variant LUSC-US 12 48440158 48440158 single base substitution C G missense_variant R617T 1850G>C LUSC-US 12 48440158 48440158 single base substitution C G missense_variant R618T 1853G>C LUSC-US 12 48457586 48457586 single base substitution C T 3_prime_UTR_variant LUSC-US 12 48457586 48457586 single base substitution C T exon_variant LUSC-US 12 48457586 48457586 single base substitution C T synonymous_variant G438G 1314G>A LUSC-US 12 48458880 48458880 single base substitution C G 3_prime_UTR_variant LUSC-US 12 48458880 48458880 single base substitution C G exon_variant LUSC-US 12 48458880 48458880 single base substitution C G missense_variant D415H 1243G>C LUSC-US 12 48482584 48482584 single base substitution C T exon_variant LUSC-US 12 48482584 48482584 single base substitution C T missense_variant S120N 359G>A LUSC-US 12 48482584 48482584 single base substitution C T missense_variant S127N 380G>A LUSC-US 12 48482584 48482584 single base substitution C T splice_region_variant MALY-DE 12 48436890 48436890 single base substitution A T 3_prime_UTR_variant MALY-DE 12 48436890 48436890 single base substitution A T downstream_gene_variant MALY-DE 12 48438624 48438625 deletion of <=200bp TG - 3_prime_UTR_variant MALY-DE 12 48438624 48438625 deletion of <=200bp TG - downstream_gene_variant MALY-DE 12 48449554 48449554 deletion of <=200bp A - intron_variant MALY-DE 12 48449841 48449841 single base substitution C G intron_variant MALY-DE 12 48451691 48451691 single base substitution A T intron_variant MALY-DE 12 48467823 48467823 single base substitution A G intron_variant MALY-DE 12 48480794 48480794 single base substitution C A downstream_gene_variant MALY-DE 12 48480794 48480794 single base substitution C A intron_variant MALY-DE 12 48481197 48481197 single base substitution C T downstream_gene_variant MALY-DE 12 48481197 48481197 single base substitution C T intron_variant MALY-DE 12 48481984 48481984 single base substitution C T downstream_gene_variant MALY-DE 12 48481984 48481984 single base substitution C T intron_variant MALY-DE 12 48483646 48483646 single base substitution T C intron_variant MALY-DE 12 48484251 48484253 deletion of <=200bp AGA - intron_variant MALY-DE 12 48487745 48487745 insertion of <=200bp - A downstream_gene_variant MALY-DE 12 48487745 48487745 insertion of <=200bp - A intron_variant MALY-DE 12 48489749 48489749 single base substitution G A downstream_gene_variant MALY-DE 12 48489749 48489749 single base substitution G A intron_variant MALY-DE 12 48492305 48492305 single base substitution A C intron_variant MALY-DE 12 48492305 48492305 single base substitution A C upstream_gene_variant MALY-DE 12 48498797 48498797 single base substitution T G intron_variant MALY-DE 12 48498797 48498797 single base substitution T G upstream_gene_variant MALY-DE 12 48499332 48499332 single base substitution T A 5_prime_UTR_variant MALY-DE 12 48499332 48499332 single base substitution T A intron_variant MALY-DE 12 48499332 48499332 single base substitution T A upstream_gene_variant MALY-DE 12 48499745 48499745 single base substitution G T intron_variant MALY-DE 12 48499745 48499745 single base substitution G T upstream_gene_variant MALY-DE 12 48504867 48504867 single base substitution C A upstream_gene_variant MELA-AU 12 48432010 48432012 deletion of <=200bp AGA - downstream_gene_variant MELA-AU 12 48432202 48432202 single base substitution G A downstream_gene_variant MELA-AU 12 48432464 48432464 single base substitution G A downstream_gene_variant MELA-AU 12 48433077 48433077 single base substitution G A downstream_gene_variant MELA-AU 12 48433241 48433241 single base substitution C T downstream_gene_variant MELA-AU 12 48433348 48433348 single base substitution G A downstream_gene_variant MELA-AU 12 48433414 48433414 single base substitution C T downstream_gene_variant MELA-AU 12 48433493 48433493 single base substitution G A downstream_gene_variant MELA-AU 12 48433838 48433838 single base substitution T C downstream_gene_variant MELA-AU 12 48435314 48435314 single base substitution G A downstream_gene_variant MELA-AU 12 48435623 48435623 single base substitution G A downstream_gene_variant MELA-AU 12 48435918 48435918 single base substitution A G downstream_gene_variant MELA-AU 12 48436274 48436274 single base substitution C A downstream_gene_variant MELA-AU 12 48437432 48437432 single base substitution G A 3_prime_UTR_variant MELA-AU 12 48437432 48437432 single base substitution G A downstream_gene_variant MELA-AU 12 48437680 48437680 single base substitution G A 3_prime_UTR_variant MELA-AU 12 48437680 48437680 single base substitution G A downstream_gene_variant MELA-AU 12 48438144 48438144 single base substitution T C 3_prime_UTR_variant MELA-AU 12 48438144 48438144 single base substitution T C downstream_gene_variant MELA-AU 12 48438669 48438669 single base substitution A G 3_prime_UTR_variant MELA-AU 12 48438669 48438669 single base substitution A G downstream_gene_variant MELA-AU 12 48439679 48439679 single base substitution G A intron_variant MELA-AU 12 48440607 48440607 single base substitution G A intron_variant MELA-AU 12 48440667 48440667 single base substitution G A intron_variant MELA-AU 12 48440882 48440882 single base substitution G A intron_variant MELA-AU 12 48441074 48441074 single base substitution G A intron_variant MELA-AU 12 48441136 48441136 single base substitution T G intron_variant MELA-AU 12 48441197 48441197 single base substitution G A intron_variant MELA-AU 12 48441482 48441482 single base substitution C T intron_variant MELA-AU 12 48441635 48441635 single base substitution A G intron_variant MELA-AU 12 48442156 48442156 single base substitution A C intron_variant MELA-AU 12 48442448 48442448 single base substitution C T intron_variant MELA-AU 12 48442512 48442512 single base substitution G A intron_variant MELA-AU 12 48444017 48444017 single base substitution G A intron_variant MELA-AU 12 48444565 48444565 single base substitution G A intron_variant MELA-AU 12 48444834 48444834 single base substitution G A intron_variant MELA-AU 12 48445086 48445086 single base substitution C T intron_variant MELA-AU 12 48445296 48445296 single base substitution G A intron_variant MELA-AU 12 48447067 48447067 single base substitution G A intron_variant MELA-AU 12 48447719 48447719 single base substitution C T intron_variant MELA-AU 12 48447830 48447830 single base substitution G A intron_variant MELA-AU 12 48450461 48450461 single base substitution C T intron_variant MELA-AU 12 48450490 48450490 single base substitution C A intron_variant MELA-AU 12 48450526 48450526 single base substitution C T intron_variant MELA-AU 12 48451282 48451282 single base substitution G A intron_variant MELA-AU 12 48451389 48451389 single base substitution T G intron_variant MELA-AU 12 48452660 48452660 single base substitution G A downstream_gene_variant MELA-AU 12 48452660 48452660 single base substitution G A intron_variant MELA-AU 12 48452755 48452755 single base substitution C T downstream_gene_variant MELA-AU 12 48452755 48452755 single base substitution C T intron_variant MELA-AU 12 48453008 48453008 single base substitution G A downstream_gene_variant MELA-AU 12 48453008 48453008 single base substitution G A intron_variant MELA-AU 12 48453129 48453129 single base substitution G A downstream_gene_variant MELA-AU 12 48453129 48453129 single base substitution G A intron_variant MELA-AU 12 48454202 48454202 single base substitution G A downstream_gene_variant MELA-AU 12 48454202 48454202 single base substitution G A intron_variant MELA-AU 12 48454556 48454556 single base substitution C T downstream_gene_variant MELA-AU 12 48454556 48454556 single base substitution C T intron_variant MELA-AU 12 48454774 48454774 single base substitution C T downstream_gene_variant MELA-AU 12 48454774 48454774 single base substitution C T intron_variant MELA-AU 12 48455206 48455206 single base substitution G A downstream_gene_variant MELA-AU 12 48455206 48455206 single base substitution G A intron_variant MELA-AU 12 48455490 48455490 single base substitution C T downstream_gene_variant MELA-AU 12 48455490 48455490 single base substitution C T intron_variant MELA-AU 12 48456635 48456636 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 48456635 48456636 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 48456680 48456680 single base substitution G A downstream_gene_variant MELA-AU 12 48456680 48456680 single base substitution G A intron_variant MELA-AU 12 48456880 48456880 single base substitution G A downstream_gene_variant MELA-AU 12 48456880 48456880 single base substitution G A intron_variant MELA-AU 12 48457033 48457033 single base substitution G A downstream_gene_variant MELA-AU 12 48457033 48457033 single base substitution G A intron_variant MELA-AU 12 48457337 48457337 single base substitution A T downstream_gene_variant MELA-AU 12 48457337 48457337 single base substitution A T intron_variant MELA-AU 12 48457594 48457594 single base substitution G A 3_prime_UTR_variant MELA-AU 12 48457594 48457594 single base substitution G A exon_variant MELA-AU 12 48457594 48457594 single base substitution G A missense_variant R436C 1306C>T MELA-AU 12 48458395 48458395 single base substitution G A intron_variant MELA-AU 12 48458793 48458793 single base substitution G A intron_variant MELA-AU 12 48459129 48459129 single base substitution C T intron_variant MELA-AU 12 48459500 48459500 single base substitution A C intron_variant MELA-AU 12 48459500 48459500 single base substitution A C upstream_gene_variant MELA-AU 12 48459932 48459932 single base substitution G A intron_variant MELA-AU 12 48459932 48459932 single base substitution G A upstream_gene_variant MELA-AU 12 48461056 48461057 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 48461056 48461057 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 48461196 48461196 single base substitution A T intron_variant MELA-AU 12 48461196 48461196 single base substitution A T upstream_gene_variant MELA-AU 12 48461888 48461888 single base substitution C T intron_variant MELA-AU 12 48461888 48461888 single base substitution C T upstream_gene_variant MELA-AU 12 48461940 48461940 single base substitution G A intron_variant MELA-AU 12 48461940 48461940 single base substitution G A upstream_gene_variant MELA-AU 12 48462628 48462628 single base substitution G A intron_variant MELA-AU 12 48462628 48462628 single base substitution G A upstream_gene_variant MELA-AU 12 48463134 48463134 single base substitution G A intron_variant MELA-AU 12 48463134 48463134 single base substitution G A upstream_gene_variant MELA-AU 12 48463661 48463661 single base substitution G A intron_variant MELA-AU 12 48463661 48463661 single base substitution G A upstream_gene_variant MELA-AU 12 48464073 48464073 single base substitution C T intron_variant MELA-AU 12 48464073 48464073 single base substitution C T upstream_gene_variant MELA-AU 12 48464576 48464576 single base substitution G A intron_variant MELA-AU 12 48464914 48464914 single base substitution A T intron_variant MELA-AU 12 48465701 48465701 single base substitution C T intron_variant MELA-AU 12 48465917 48465917 single base substitution G A intron_variant MELA-AU 12 48466810 48466810 single base substitution G A intron_variant MELA-AU 12 48468044 48468044 single base substitution G A intron_variant MELA-AU 12 48468977 48468977 single base substitution G A downstream_gene_variant MELA-AU 12 48468977 48468977 single base substitution G A intron_variant MELA-AU 12 48469185 48469185 single base substitution G A downstream_gene_variant MELA-AU 12 48469185 48469185 single base substitution G A intron_variant MELA-AU 12 48469198 48469198 single base substitution A T downstream_gene_variant MELA-AU 12 48469198 48469198 single base substitution A T intron_variant MELA-AU 12 48470188 48470188 single base substitution A G downstream_gene_variant MELA-AU 12 48470188 48470188 single base substitution A G intron_variant MELA-AU 12 48470305 48470305 single base substitution G A downstream_gene_variant MELA-AU 12 48470305 48470305 single base substitution G A intron_variant MELA-AU 12 48470451 48470451 single base substitution G A downstream_gene_variant MELA-AU 12 48470451 48470451 single base substitution G A intron_variant MELA-AU 12 48471228 48471228 single base substitution G A downstream_gene_variant MELA-AU 12 48471228 48471228 single base substitution G A intron_variant MELA-AU 12 48471261 48471261 single base substitution G A downstream_gene_variant MELA-AU 12 48471261 48471261 single base substitution G A intron_variant MELA-AU 12 48471363 48471363 single base substitution G A downstream_gene_variant MELA-AU 12 48471363 48471363 single base substitution G A intron_variant MELA-AU 12 48471543 48471543 single base substitution G A downstream_gene_variant MELA-AU 12 48471543 48471543 single base substitution G A intron_variant MELA-AU 12 48472672 48472673 multiple base substitution (>=2bp and <=200bp) CC TA downstream_gene_variant MELA-AU 12 48472672 48472673 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 12 48472893 48472893 single base substitution A G downstream_gene_variant MELA-AU 12 48472893 48472893 single base substitution A G intron_variant MELA-AU 12 48473139 48473139 single base substitution C T downstream_gene_variant MELA-AU 12 48473139 48473139 single base substitution C T intron_variant MELA-AU 12 48473201 48473201 single base substitution G A downstream_gene_variant MELA-AU 12 48473201 48473201 single base substitution G A intron_variant MELA-AU 12 48473671 48473671 single base substitution A T downstream_gene_variant MELA-AU 12 48473671 48473671 single base substitution A T intron_variant MELA-AU 12 48473798 48473798 single base substitution A T downstream_gene_variant MELA-AU 12 48473798 48473798 single base substitution A T intron_variant MELA-AU 12 48474112 48474112 single base substitution G A downstream_gene_variant MELA-AU 12 48474112 48474112 single base substitution G A exon_variant MELA-AU 12 48474112 48474112 single base substitution G A intron_variant MELA-AU 12 48474449 48474449 single base substitution G A downstream_gene_variant MELA-AU 12 48474449 48474449 single base substitution G A intron_variant MELA-AU 12 48474768 48474768 single base substitution A G downstream_gene_variant MELA-AU 12 48474768 48474768 single base substitution A G intron_variant MELA-AU 12 48475181 48475181 single base substitution G A downstream_gene_variant MELA-AU 12 48475181 48475181 single base substitution G A intron_variant MELA-AU 12 48475343 48475343 single base substitution G A downstream_gene_variant MELA-AU 12 48475343 48475343 single base substitution G A intron_variant MELA-AU 12 48475457 48475457 single base substitution G A downstream_gene_variant MELA-AU 12 48475457 48475457 single base substitution G A intron_variant MELA-AU 12 48476829 48476829 single base substitution A C downstream_gene_variant MELA-AU 12 48476829 48476829 single base substitution A C intron_variant MELA-AU 12 48476835 48476835 single base substitution G A downstream_gene_variant MELA-AU 12 48476835 48476835 single base substitution G A intron_variant MELA-AU 12 48476989 48476989 single base substitution G A downstream_gene_variant MELA-AU 12 48476989 48476989 single base substitution G A intron_variant MELA-AU 12 48477886 48477886 single base substitution G A downstream_gene_variant MELA-AU 12 48477886 48477886 single base substitution G A intron_variant MELA-AU 12 48479400 48479400 single base substitution G A downstream_gene_variant MELA-AU 12 48479400 48479400 single base substitution G A intron_variant MELA-AU 12 48479798 48479798 single base substitution G A downstream_gene_variant MELA-AU 12 48479798 48479798 single base substitution G A intron_variant MELA-AU 12 48480070 48480070 single base substitution G A downstream_gene_variant MELA-AU 12 48480070 48480070 single base substitution G A intron_variant MELA-AU 12 48480464 48480464 single base substitution G A downstream_gene_variant MELA-AU 12 48480464 48480464 single base substitution G A intron_variant MELA-AU 12 48480716 48480716 single base substitution G A downstream_gene_variant MELA-AU 12 48480716 48480716 single base substitution G A intron_variant MELA-AU 12 48481384 48481384 single base substitution G A downstream_gene_variant MELA-AU 12 48481384 48481384 single base substitution G A intron_variant MELA-AU 12 48481499 48481499 single base substitution G A downstream_gene_variant MELA-AU 12 48481499 48481499 single base substitution G A intron_variant MELA-AU 12 48481576 48481576 single base substitution T C downstream_gene_variant MELA-AU 12 48481576 48481576 single base substitution T C intron_variant MELA-AU 12 48482311 48482311 single base substitution G A downstream_gene_variant MELA-AU 12 48482311 48482311 single base substitution G A intron_variant MELA-AU 12 48483274 48483274 single base substitution G A intron_variant MELA-AU 12 48483802 48483802 single base substitution G A intron_variant MELA-AU 12 48484621 48484621 single base substitution T C intron_variant MELA-AU 12 48484744 48484744 single base substitution G A intron_variant MELA-AU 12 48486781 48486781 single base substitution G A downstream_gene_variant MELA-AU 12 48486781 48486781 single base substitution G A intron_variant MELA-AU 12 48487656 48487656 single base substitution G A downstream_gene_variant MELA-AU 12 48487656 48487656 single base substitution G A intron_variant MELA-AU 12 48488089 48488089 single base substitution G A downstream_gene_variant MELA-AU 12 48488089 48488089 single base substitution G A intron_variant MELA-AU 12 48488647 48488647 single base substitution A G downstream_gene_variant MELA-AU 12 48488647 48488647 single base substitution A G intron_variant MELA-AU 12 48489400 48489400 single base substitution G A downstream_gene_variant MELA-AU 12 48489400 48489400 single base substitution G A intron_variant MELA-AU 12 48489866 48489866 single base substitution G A downstream_gene_variant MELA-AU 12 48489866 48489866 single base substitution G A intron_variant MELA-AU 12 48490373 48490373 single base substitution G A downstream_gene_variant MELA-AU 12 48490373 48490373 single base substitution G A intron_variant MELA-AU 12 48490373 48490373 single base substitution G A upstream_gene_variant MELA-AU 12 48490423 48490423 single base substitution G A downstream_gene_variant MELA-AU 12 48490423 48490423 single base substitution G A intron_variant MELA-AU 12 48490423 48490423 single base substitution G A upstream_gene_variant MELA-AU 12 48490450 48490450 single base substitution G C downstream_gene_variant MELA-AU 12 48490450 48490450 single base substitution G C intron_variant MELA-AU 12 48490450 48490450 single base substitution G C upstream_gene_variant MELA-AU 12 48492817 48492817 single base substitution T C intron_variant MELA-AU 12 48492817 48492817 single base substitution T C upstream_gene_variant MELA-AU 12 48494182 48494182 single base substitution G A intron_variant MELA-AU 12 48494182 48494182 single base substitution G A upstream_gene_variant MELA-AU 12 48494848 48494848 single base substitution C T intron_variant MELA-AU 12 48494848 48494848 single base substitution C T upstream_gene_variant MELA-AU 12 48495097 48495097 single base substitution G T intron_variant MELA-AU 12 48495097 48495097 single base substitution G T upstream_gene_variant MELA-AU 12 48495991 48495991 single base substitution T C intron_variant MELA-AU 12 48495991 48495991 single base substitution T C upstream_gene_variant MELA-AU 12 48496432 48496432 single base substitution G A intron_variant MELA-AU 12 48496432 48496432 single base substitution G A upstream_gene_variant MELA-AU 12 48497680 48497681 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 48497680 48497681 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 48497831 48497831 single base substitution G A intron_variant MELA-AU 12 48497831 48497831 single base substitution G A upstream_gene_variant MELA-AU 12 48498740 48498740 single base substitution G A intron_variant MELA-AU 12 48498740 48498740 single base substitution G A upstream_gene_variant MELA-AU 12 48499454 48499454 single base substitution C G 5_prime_UTR_variant MELA-AU 12 48499454 48499454 single base substitution C G intron_variant MELA-AU 12 48499454 48499454 single base substitution C G upstream_gene_variant MELA-AU 12 48499818 48499818 single base substitution G A 5_prime_UTR_variant MELA-AU 12 48499818 48499818 single base substitution G A exon_variant MELA-AU 12 48499818 48499818 single base substitution G A upstream_gene_variant MELA-AU 12 48500489 48500489 single base substitution G A upstream_gene_variant MELA-AU 12 48501416 48501416 single base substitution A T upstream_gene_variant MELA-AU 12 48501538 48501538 single base substitution C A upstream_gene_variant MELA-AU 12 48501617 48501617 single base substitution G A upstream_gene_variant MELA-AU 12 48502015 48502015 single base substitution G A upstream_gene_variant MELA-AU 12 48503089 48503089 single base substitution C T upstream_gene_variant MELA-AU 12 48503108 48503108 single base substitution C T upstream_gene_variant MELA-AU 12 48503147 48503147 single base substitution C T upstream_gene_variant MELA-AU 12 48503172 48503172 single base substitution C T upstream_gene_variant MELA-AU 12 48503551 48503551 single base substitution C T upstream_gene_variant MELA-AU 12 48503813 48503814 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 48503882 48503882 single base substitution G A upstream_gene_variant MELA-AU 12 48503896 48503896 single base substitution C T upstream_gene_variant MELA-AU 12 48503975 48503975 single base substitution C T upstream_gene_variant MELA-AU 12 48504429 48504429 single base substitution C T upstream_gene_variant MELA-AU 12 48504629 48504629 single base substitution C T upstream_gene_variant MELA-AU 12 48504735 48504735 single base substitution C T upstream_gene_variant ORCA-IN 12 48477419 48477419 single base substitution C G 3_prime_UTR_variant ORCA-IN 12 48477419 48477419 single base substitution C G downstream_gene_variant ORCA-IN 12 48477419 48477419 single base substitution C G exon_variant ORCA-IN 12 48477419 48477419 single base substitution C G missense_variant L169F 507G>C ORCA-IN 12 48482738 48482738 single base substitution G T exon_variant ORCA-IN 12 48482738 48482738 single base substitution G T missense_variant P69T 205C>A ORCA-IN 12 48482738 48482738 single base substitution G T missense_variant P76T 226C>A ORCA-IN 12 48482738 48482738 single base substitution G T synonymous_variant I151I 453C>A ORCA-IN 12 48491888 48491888 single base substitution C T exon_variant ORCA-IN 12 48491888 48491888 single base substitution C T missense_variant M40I 120G>A ORCA-IN 12 48491888 48491888 single base substitution C T missense_variant M8I 24G>A ORCA-IN 12 48491888 48491888 single base substitution C T start_lost M1I 3G>A ORCA-IN 12 48491888 48491888 single base substitution C T upstream_gene_variant ORCA-IN 12 48505047 48505047 single base substitution C T upstream_gene_variant OV-AU 12 48435497 48435497 single base substitution C G downstream_gene_variant OV-AU 12 48438671 48438671 single base substitution G T 3_prime_UTR_variant OV-AU 12 48438671 48438671 single base substitution G T downstream_gene_variant OV-AU 12 48450461 48450461 single base substitution C T intron_variant OV-AU 12 48450589 48450589 single base substitution C A intron_variant OV-AU 12 48455011 48455011 single base substitution A G downstream_gene_variant OV-AU 12 48455011 48455011 single base substitution A G intron_variant OV-AU 12 48455828 48455828 single base substitution C G downstream_gene_variant OV-AU 12 48455828 48455828 single base substitution C G intron_variant OV-AU 12 48460515 48460515 single base substitution G C intron_variant OV-AU 12 48460515 48460515 single base substitution G C upstream_gene_variant OV-AU 12 48464015 48464015 single base substitution T C intron_variant OV-AU 12 48464015 48464015 single base substitution T C upstream_gene_variant OV-AU 12 48464227 48464227 single base substitution C A intron_variant OV-AU 12 48464227 48464227 single base substitution C A upstream_gene_variant OV-AU 12 48479087 48479087 single base substitution C A downstream_gene_variant OV-AU 12 48479087 48479087 single base substitution C A intron_variant OV-AU 12 48499866 48499866 single base substitution A C 5_prime_UTR_variant OV-AU 12 48499866 48499866 single base substitution A C upstream_gene_variant PACA-AU 12 48438103 48438103 single base substitution A T 3_prime_UTR_variant PACA-AU 12 48438103 48438103 single base substitution A T downstream_gene_variant PACA-AU 12 48440199 48440199 single base substitution C A 3_prime_UTR_variant PACA-AU 12 48440199 48440199 single base substitution C A synonymous_variant G603G 1809G>T PACA-AU 12 48440199 48440199 single base substitution C A synonymous_variant G604G 1812G>T PACA-AU 12 48445548 48445548 single base substitution C T intron_variant PACA-AU 12 48450589 48450589 single base substitution C A intron_variant PACA-AU 12 48457498 48457498 single base substitution C A 3_prime_UTR_variant PACA-AU 12 48457498 48457498 single base substitution C A exon_variant PACA-AU 12 48457498 48457498 single base substitution C A missense_variant D468Y 1402G>T PACA-AU 12 48457830 48457830 single base substitution C T intron_variant PACA-AU 12 48467977 48467977 single base substitution C T intron_variant PACA-AU 12 48468755 48468755 single base substitution C A intron_variant PACA-AU 12 48481260 48481260 single base substitution G T downstream_gene_variant PACA-AU 12 48481260 48481260 single base substitution G T intron_variant PACA-AU 12 48501962 48501962 single base substitution C T upstream_gene_variant PACA-AU 12 48502664 48502664 single base substitution C A upstream_gene_variant PACA-CA 12 48432574 48432574 single base substitution T A downstream_gene_variant PACA-CA 12 48434732 48434732 single base substitution T A downstream_gene_variant PACA-CA 12 48438623 48438623 insertion of <=200bp - TG 3_prime_UTR_variant PACA-CA 12 48438623 48438623 insertion of <=200bp - TG downstream_gene_variant PACA-CA 12 48439827 48439827 single base substitution T G intron_variant PACA-CA 12 48442078 48442078 single base substitution C T intron_variant PACA-CA 12 48442439 48442439 deletion of <=200bp T - intron_variant PACA-CA 12 48448273 48448273 single base substitution C T intron_variant PACA-CA 12 48450461 48450461 single base substitution C T intron_variant PACA-CA 12 48450490 48450490 single base substitution C A intron_variant PACA-CA 12 48450509 48450511 deletion of <=200bp TAT - intron_variant PACA-CA 12 48450519 48450519 single base substitution T C intron_variant PACA-CA 12 48452841 48452841 single base substitution T C downstream_gene_variant PACA-CA 12 48452841 48452841 single base substitution T C intron_variant PACA-CA 12 48456029 48456029 single base substitution G A downstream_gene_variant PACA-CA 12 48456029 48456029 single base substitution G A intron_variant PACA-CA 12 48458895 48458895 insertion of <=200bp - T 3_prime_UTR_variant PACA-CA 12 48458895 48458895 insertion of <=200bp - T exon_variant PACA-CA 12 48458895 48458895 insertion of <=200bp - T frameshift_variant G410E? PACA-CA 12 48459896 48459896 single base substitution G C intron_variant PACA-CA 12 48459896 48459896 single base substitution G C upstream_gene_variant PACA-CA 12 48459940 48459940 single base substitution C G intron_variant PACA-CA 12 48459940 48459940 single base substitution C G upstream_gene_variant PACA-CA 12 48462096 48462096 single base substitution G A intron_variant PACA-CA 12 48462096 48462096 single base substitution G A upstream_gene_variant PACA-CA 12 48468628 48468628 single base substitution T C intron_variant PACA-CA 12 48468635 48468635 single base substitution C G intron_variant PACA-CA 12 48469852 48469852 single base substitution A C downstream_gene_variant PACA-CA 12 48469852 48469852 single base substitution A C intron_variant PACA-CA 12 48470256 48470256 single base substitution C T downstream_gene_variant PACA-CA 12 48470256 48470256 single base substitution C T intron_variant PACA-CA 12 48470645 48470645 single base substitution G A downstream_gene_variant PACA-CA 12 48470645 48470645 single base substitution G A intron_variant PACA-CA 12 48471938 48471938 single base substitution G T downstream_gene_variant PACA-CA 12 48471938 48471938 single base substitution G T intron_variant PACA-CA 12 48473277 48473277 single base substitution G A downstream_gene_variant PACA-CA 12 48473277 48473277 single base substitution G A intron_variant PACA-CA 12 48473602 48473602 single base substitution A C downstream_gene_variant PACA-CA 12 48473602 48473602 single base substitution A C intron_variant PACA-CA 12 48478504 48478504 single base substitution T G downstream_gene_variant PACA-CA 12 48478504 48478504 single base substitution T G intron_variant PACA-CA 12 48480568 48480568 single base substitution C T downstream_gene_variant PACA-CA 12 48480568 48480568 single base substitution C T intron_variant PACA-CA 12 48480911 48480911 single base substitution T C downstream_gene_variant PACA-CA 12 48480911 48480911 single base substitution T C intron_variant PACA-CA 12 48481357 48481357 single base substitution T A downstream_gene_variant PACA-CA 12 48481357 48481357 single base substitution T A intron_variant PACA-CA 12 48484554 48484554 single base substitution A G intron_variant PACA-CA 12 48490338 48490338 single base substitution A G downstream_gene_variant PACA-CA 12 48490338 48490338 single base substitution A G intron_variant PACA-CA 12 48490338 48490338 single base substitution A G upstream_gene_variant PACA-CA 12 48491408 48491408 single base substitution C A downstream_gene_variant PACA-CA 12 48491408 48491408 single base substitution C A intron_variant PACA-CA 12 48491408 48491408 single base substitution C A upstream_gene_variant PACA-CA 12 48500298 48500298 single base substitution T C upstream_gene_variant PACA-CA 12 48500766 48500766 single base substitution A T upstream_gene_variant PACA-CA 12 48501138 48501138 single base substitution C T upstream_gene_variant PACA-CA 12 48501354 48501354 single base substitution C T upstream_gene_variant PAEN-AU 12 48460381 48460381 single base substitution A C intron_variant PAEN-AU 12 48460381 48460381 single base substitution A C upstream_gene_variant PAEN-AU 12 48487322 48487322 single base substitution C T downstream_gene_variant PAEN-AU 12 48487322 48487322 single base substitution C T intron_variant PAEN-IT 12 48440452 48440452 single base substitution G A intron_variant PBCA-DE 12 48437906 48437906 single base substitution A C 3_prime_UTR_variant PBCA-DE 12 48437906 48437906 single base substitution A C downstream_gene_variant PBCA-DE 12 48447453 48447453 single base substitution T C intron_variant PBCA-DE 12 48453129 48453129 single base substitution G A downstream_gene_variant PBCA-DE 12 48453129 48453129 single base substitution G A intron_variant PBCA-DE 12 48471577 48471577 single base substitution G A downstream_gene_variant PBCA-DE 12 48471577 48471577 single base substitution G A intron_variant PBCA-DE 12 48472312 48472312 insertion of <=200bp - T downstream_gene_variant PBCA-DE 12 48472312 48472312 insertion of <=200bp - T intron_variant PBCA-DE 12 48473711 48473711 single base substitution C A downstream_gene_variant PBCA-DE 12 48473711 48473711 single base substitution C A intron_variant PBCA-DE 12 48482890 48482890 single base substitution G A intron_variant PBCA-DE 12 48495456 48495456 single base substitution A G intron_variant PBCA-DE 12 48495456 48495456 single base substitution A G upstream_gene_variant PBCA-DE 12 48495709 48495709 single base substitution T C intron_variant PBCA-DE 12 48495709 48495709 single base substitution T C upstream_gene_variant PBCA-DE 12 48502493 48502493 single base substitution C T upstream_gene_variant PBCA-DE 12 48504613 48504614 deletion of <=200bp TG - upstream_gene_variant PRAD-CA 12 48437557 48437557 single base substitution A T 3_prime_UTR_variant PRAD-CA 12 48437557 48437557 single base substitution A T downstream_gene_variant PRAD-CA 12 48449938 48449938 single base substitution T A intron_variant PRAD-CA 12 48450490 48450490 single base substitution C A intron_variant PRAD-CA 12 48450510 48450510 single base substitution A G intron_variant PRAD-CA 12 48450829 48450829 single base substitution T C intron_variant PRAD-CA 12 48452262 48452262 single base substitution T C intron_variant PRAD-CA 12 48478384 48478384 single base substitution G A downstream_gene_variant PRAD-CA 12 48478384 48478384 single base substitution G A intron_variant PRAD-UK 12 48434524 48434524 single base substitution A C downstream_gene_variant PRAD-UK 12 48462206 48462206 single base substitution C T intron_variant PRAD-UK 12 48462206 48462206 single base substitution C T upstream_gene_variant PRAD-UK 12 48470478 48470478 single base substitution C T downstream_gene_variant PRAD-UK 12 48470478 48470478 single base substitution C T intron_variant PRAD-UK 12 48474419 48474419 single base substitution T C downstream_gene_variant PRAD-UK 12 48474419 48474419 single base substitution T C intron_variant PRAD-UK 12 48480311 48480311 single base substitution C A downstream_gene_variant PRAD-UK 12 48480311 48480311 single base substitution C A intron_variant PRAD-UK 12 48481984 48481984 single base substitution C A downstream_gene_variant PRAD-UK 12 48481984 48481984 single base substitution C A intron_variant PRAD-UK 12 48488627 48488627 single base substitution T G downstream_gene_variant PRAD-UK 12 48488627 48488627 single base substitution T G intron_variant READ-US 12 48457593 48457593 single base substitution C T 3_prime_UTR_variant READ-US 12 48457593 48457593 single base substitution C T exon_variant READ-US 12 48457593 48457593 single base substitution C T missense_variant R436H 1307G>A RECA-EU 12 48442081 48442081 single base substitution A T intron_variant RECA-EU 12 48457094 48457094 single base substitution A G downstream_gene_variant RECA-EU 12 48457094 48457094 single base substitution A G intron_variant RECA-EU 12 48471780 48471780 single base substitution C A downstream_gene_variant RECA-EU 12 48471780 48471780 single base substitution C A intron_variant RECA-EU 12 48488639 48488639 single base substitution A G downstream_gene_variant RECA-EU 12 48488639 48488639 single base substitution A G intron_variant RECA-EU 12 48503523 48503523 single base substitution C G upstream_gene_variant SKCA-BR 12 48431936 48431936 single base substitution C T downstream_gene_variant SKCA-BR 12 48435280 48435280 single base substitution A C downstream_gene_variant SKCA-BR 12 48437500 48437500 single base substitution G A 3_prime_UTR_variant SKCA-BR 12 48437500 48437500 single base substitution G A downstream_gene_variant SKCA-BR 12 48438560 48438560 single base substitution G A 3_prime_UTR_variant SKCA-BR 12 48438560 48438560 single base substitution G A downstream_gene_variant SKCA-BR 12 48438711 48438711 single base substitution C T 3_prime_UTR_variant SKCA-BR 12 48438711 48438711 single base substitution C T downstream_gene_variant SKCA-BR 12 48440685 48440685 single base substitution G A intron_variant SKCA-BR 12 48444117 48444117 single base substitution G A intron_variant SKCA-BR 12 48450793 48450793 single base substitution C T intron_variant SKCA-BR 12 48453129 48453129 single base substitution G A downstream_gene_variant SKCA-BR 12 48453129 48453129 single base substitution G A intron_variant SKCA-BR 12 48457594 48457594 single base substitution G A 3_prime_UTR_variant SKCA-BR 12 48457594 48457594 single base substitution G A exon_variant SKCA-BR 12 48457594 48457594 single base substitution G A missense_variant R436C 1306C>T SKCA-BR 12 48457857 48457857 single base substitution G A intron_variant SKCA-BR 12 48461722 48461722 single base substitution C A intron_variant SKCA-BR 12 48461722 48461722 single base substitution C A upstream_gene_variant SKCA-BR 12 48466810 48466810 single base substitution G A intron_variant SKCA-BR 12 48468483 48468483 single base substitution G A 3_prime_UTR_variant SKCA-BR 12 48468483 48468483 single base substitution G A missense_variant P216S 646C>T SKCA-BR 12 48472117 48472117 insertion of <=200bp - TATATATATACAC downstream_gene_variant SKCA-BR 12 48472117 48472117 insertion of <=200bp - TATATATATACAC intron_variant SKCA-BR 12 48472117 48472117 insertion of <=200bp - TATATATATATATATATATATATATATAC downstream_gene_variant SKCA-BR 12 48472117 48472117 insertion of <=200bp - TATATATATATATATATATATATATATAC intron_variant SKCA-BR 12 48472125 48472125 single base substitution C T downstream_gene_variant SKCA-BR 12 48472125 48472125 single base substitution C T intron_variant SKCA-BR 12 48472127 48472127 single base substitution T C downstream_gene_variant SKCA-BR 12 48472127 48472127 single base substitution T C intron_variant SKCA-BR 12 48474835 48474835 single base substitution G C downstream_gene_variant SKCA-BR 12 48474835 48474835 single base substitution G C intron_variant SKCA-BR 12 48478923 48478923 single base substitution G A downstream_gene_variant SKCA-BR 12 48478923 48478923 single base substitution G A intron_variant SKCA-BR 12 48479400 48479400 single base substitution G A downstream_gene_variant SKCA-BR 12 48479400 48479400 single base substitution G A intron_variant SKCA-BR 12 48484804 48484804 single base substitution G A intron_variant SKCA-BR 12 48486715 48486715 single base substitution A G downstream_gene_variant SKCA-BR 12 48486715 48486715 single base substitution A G intron_variant SKCA-BR 12 48486985 48486985 single base substitution G A downstream_gene_variant SKCA-BR 12 48486985 48486985 single base substitution G A intron_variant SKCA-BR 12 48489667 48489667 single base substitution T G downstream_gene_variant SKCA-BR 12 48489667 48489667 single base substitution T G intron_variant SKCA-BR 12 48492889 48492889 single base substitution G A 5_prime_UTR_variant SKCA-BR 12 48492889 48492889 single base substitution G A intron_variant SKCA-BR 12 48492889 48492889 single base substitution G A upstream_gene_variant SKCA-BR 12 48494723 48494723 single base substitution A G intron_variant SKCA-BR 12 48494723 48494723 single base substitution A G upstream_gene_variant SKCA-BR 12 48495748 48495748 single base substitution C A intron_variant SKCA-BR 12 48495748 48495748 single base substitution C A upstream_gene_variant SKCA-BR 12 48496238 48496238 single base substitution C A intron_variant SKCA-BR 12 48496238 48496238 single base substitution C A upstream_gene_variant SKCA-BR 12 48496593 48496594 deletion of <=200bp CA - intron_variant SKCA-BR 12 48496593 48496594 deletion of <=200bp CA - upstream_gene_variant SKCA-BR 12 48500005 48500005 single base substitution C G 5_prime_UTR_variant SKCA-BR 12 48500005 48500005 single base substitution C G upstream_gene_variant SKCA-BR 12 48500489 48500489 insertion of <=200bp - GCAAA upstream_gene_variant SKCA-BR 12 48501938 48501938 single base substitution G T upstream_gene_variant SKCA-BR 12 48503104 48503104 single base substitution T C upstream_gene_variant SKCA-BR 12 48503122 48503122 single base substitution C T upstream_gene_variant SKCA-BR 12 48503164 48503164 single base substitution C T upstream_gene_variant SKCA-BR 12 48504237 48504237 single base substitution G A upstream_gene_variant SKCM-US 12 48457594 48457594 single base substitution G A 3_prime_UTR_variant SKCM-US 12 48457594 48457594 single base substitution G A exon_variant SKCM-US 12 48457594 48457594 single base substitution G A missense_variant R436C 1306C>T SKCM-US 12 48458892 48458892 single base substitution G A 3_prime_UTR_variant SKCM-US 12 48458892 48458892 single base substitution G A exon_variant SKCM-US 12 48458892 48458892 single base substitution G A missense_variant H411Y 1231C>T SKCM-US 12 48458935 48458935 single base substitution C T 3_prime_UTR_variant SKCM-US 12 48458935 48458935 single base substitution C T exon_variant SKCM-US 12 48458935 48458935 single base substitution C T synonymous_variant K396K 1188G>A SKCM-US 12 48458952 48458952 single base substitution G A 3_prime_UTR_variant SKCM-US 12 48458952 48458952 single base substitution G A exon_variant SKCM-US 12 48458952 48458952 single base substitution G A missense_variant R391C 1171C>T SKCM-US 12 48468176 48468176 single base substitution G A 3_prime_UTR_variant SKCM-US 12 48468176 48468176 single base substitution G A missense_variant H291Y 871C>T SKCM-US 12 48468505 48468505 single base substitution T A 3_prime_UTR_variant SKCM-US 12 48468505 48468505 single base substitution T A synonymous_variant I208I 624A>T SKCM-US 12 48477454 48477454 single base substitution G A 3_prime_UTR_variant SKCM-US 12 48477454 48477454 single base substitution G A downstream_gene_variant SKCM-US 12 48477454 48477454 single base substitution G A exon_variant SKCM-US 12 48477454 48477454 single base substitution G A missense_variant P158S 472C>T SKCM-US 12 48477508 48477508 single base substitution G A 3_prime_UTR_variant SKCM-US 12 48477508 48477508 single base substitution G A downstream_gene_variant SKCM-US 12 48477508 48477508 single base substitution G A exon_variant SKCM-US 12 48477508 48477508 single base substitution G A missense_variant H133Y 397C>T SKCM-US 12 48477508 48477508 single base substitution G A missense_variant H140Y 418C>T SKCM-US 12 48482619 48482619 single base substitution G A 3_prime_UTR_variant SKCM-US 12 48482619 48482619 single base substitution G A exon_variant SKCM-US 12 48482619 48482619 single base substitution G A synonymous_variant S108S 324C>T SKCM-US 12 48482619 48482619 single base substitution G A synonymous_variant S115S 345C>T SKCM-US 12 48482657 48482657 single base substitution G A 3_prime_UTR_variant SKCM-US 12 48482657 48482657 single base substitution G A exon_variant SKCM-US 12 48482657 48482657 single base substitution G A missense_variant P103S 307C>T SKCM-US 12 48482657 48482657 single base substitution G A missense_variant P96S 286C>T SKCM-US 12 48482738 48482738 single base substitution G A exon_variant SKCM-US 12 48482738 48482738 single base substitution G A missense_variant P69S 205C>T SKCM-US 12 48482738 48482738 single base substitution G A missense_variant P76S 226C>T SKCM-US 12 48482738 48482738 single base substitution G A synonymous_variant I151I 453C>T SKCM-US 12 48491775 48491775 single base substitution A G exon_variant SKCM-US 12 48491775 48491775 single base substitution A G splice_donor_variant SKCM-US 12 48491775 48491775 single base substitution A G upstream_gene_variant SKCM-US 12 48491808 48491808 single base substitution G A exon_variant SKCM-US 12 48491808 48491808 single base substitution G A missense_variant P28L 83C>T SKCM-US 12 48491808 48491808 single base substitution G A missense_variant P35L 104C>T SKCM-US 12 48491808 48491808 single base substitution G A missense_variant P67L 200C>T SKCM-US 12 48491808 48491808 single base substitution G A upstream_gene_variant SKCM-US 12 48501918 48501918 single base substitution A G upstream_gene_variant SKCM-US 12 48501948 48501948 single base substitution C T upstream_gene_variant SKCM-US 12 48501970 48501970 single base substitution C T upstream_gene_variant STAD-US 12 48440804 48440804 single base substitution T G 3_prime_UTR_variant STAD-US 12 48440804 48440804 single base substitution T G missense_variant E578A 1733A>C STAD-US 12 48441828 48441828 single base substitution G A 3_prime_UTR_variant STAD-US 12 48441828 48441828 single base substitution G A synonymous_variant Y549Y 1647C>T STAD-US 12 48441861 48441861 single base substitution A G splice_region_variant STAD-US 12 48442746 48442746 single base substitution A G 3_prime_UTR_variant STAD-US 12 48442746 48442746 single base substitution A G missense_variant V526A 1577T>C STAD-US 12 48442868 48442868 single base substitution C A 3_prime_UTR_variant STAD-US 12 48442868 48442868 single base substitution C A missense_variant K485N 1455G>T STAD-US 12 48457539 48457539 single base substitution C T 3_prime_UTR_variant STAD-US 12 48457539 48457539 single base substitution C T exon_variant STAD-US 12 48457539 48457539 single base substitution C T missense_variant R454H 1361G>A STAD-US 12 48477397 48477397 single base substitution G A 3_prime_UTR_variant STAD-US 12 48477397 48477397 single base substitution G A downstream_gene_variant STAD-US 12 48477397 48477397 single base substitution G A exon_variant STAD-US 12 48477397 48477397 single base substitution G A stop_gained R177* 529C>T STAD-US 12 48477525 48477525 single base substitution G A 3_prime_UTR_variant STAD-US 12 48477525 48477525 single base substitution G A downstream_gene_variant STAD-US 12 48477525 48477525 single base substitution G A exon_variant STAD-US 12 48477525 48477525 single base substitution G A missense_variant A127V 380C>T STAD-US 12 48477525 48477525 single base substitution G A missense_variant A134V 401C>T STAD-US 12 48477548 48477548 deletion of <=200bp A - downstream_gene_variant STAD-US 12 48477548 48477548 deletion of <=200bp A - intron_variant STAD-US 12 48477548 48477548 deletion of <=200bp A - splice_region_variant STAD-US 12 48501948 48501948 single base substitution C T upstream_gene_variant THCA-SA 12 48438290 48438290 single base substitution T A 3_prime_UTR_variant THCA-SA 12 48438290 48438290 single base substitution T A downstream_gene_variant THCA-SA 12 48499401 48499401 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant THCA-SA 12 48499401 48499401 single base substitution G A intron_variant THCA-SA 12 48499401 48499401 single base substitution G A upstream_gene_variant UCEC-US 12 48442882 48442882 single base substitution G A 3_prime_UTR_variant UCEC-US 12 48442882 48442882 single base substitution G A stop_gained R481* 1441C>T UCEC-US 12 48465492 48465492 single base substitution A G 3_prime_UTR_variant UCEC-US 12 48465492 48465492 single base substitution A G missense_variant V318A 953T>C UCEC-US 12 48468123 48468123 single base substitution T C 3_prime_UTR_variant UCEC-US 12 48468123 48468123 single base substitution T C synonymous_variant S308S 924A>G UCEC-US 12 48477430 48477430 single base substitution G A 3_prime_UTR_variant UCEC-US 12 48477430 48477430 single base substitution G A downstream_gene_variant UCEC-US 12 48477430 48477430 single base substitution G A exon_variant UCEC-US 12 48477430 48477430 single base substitution G A stop_gained R166* 496C>T UCEC-US 12 48478988 48478988 single base substitution C T downstream_gene_variant UCEC-US 12 48478988 48478988 single base substitution C T intron_variant UCEC-US 12 48490171 48490171 single base substitution T C downstream_gene_variant UCEC-US 12 48490171 48490171 single base substitution T C exon_variant UCEC-US 12 48490171 48490171 single base substitution T C missense_variant T52A 154A>G UCEC-US 12 48490171 48490171 single base substitution T C missense_variant T59A 175A>G UCEC-US 12 48490171 48490171 single base substitution T C missense_variant T91A 271A>G UCEC-US 12 48501950 48501950 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SNUH_G10_S1 COSM3998815 c.504T>C p.L168L Substitution - coding silent 12:48083639-48083639 - SNU-C2B COSM273226 c.1227delA p.G410fs*4 Deletion - Frameshift 12:48065113-48065113 - TCGA-AA-3715-01 COSM5106347 c.1227_1228insA p.G410fs*3 Insertion - Frameshift 12:48065112-48065113 - SNU-C4 COSM273226 c.1227delA p.G410fs*4 Deletion - Frameshift 12:48065113-48065113 - Au2 COSM5600444 c.572G>A p.R191K Substitution - Missense 12:48074774-48074774 - 2492703 COSM5600444 c.572G>A p.R191K Substitution - Missense 12:48074774-48074774 - TCGA-BR-6452-01 COSM4042195 c.1577T>C p.V526A Substitution - Missense 12:48048963-48048963 - L363 COSM1235942 c.238A>G p.S80G Substitution - Missense 12:48088943-48088943 - TCGA-D5-6533-01 COSM273226 c.1227delA p.G410fs*4 Deletion - Frameshift 12:48065113-48065113 - TCGA-CK-4951-01 COSM5147882 c.1268T>A p.I423N Substitution - Missense 12:48065072-48065072 - TCGA-AA-3815-01 COSM5110477 c.1691+6T>C p.? Unknown 12:48047995-48047995 - OSCC-GB_00530111 COSM3812103 c.507G>C p.L169F Substitution - Missense 12:48083636-48083636 - 7 COSM4166720 c.112C>T p.Q38* Substitution - Nonsense 12:48098017-48098017 - BD176T COSM5494904 c.845G>C p.G282A Substitution - Missense 12:48074419-48074419 - PT49 COSM5935959 c.1450G>A p.E484K Substitution - Missense 12:48049090-48049090 - TCGA-EB-A3Y7-01 COSM3461296 c.624A>T p.I208I Substitution - coding silent 12:48074722-48074722 - 61 COSM5739629 c.1250A>G p.E417G Substitution - Missense 12:48065090-48065090 - SJACT066_D COSM4968256 c.278G>A p.S93N Substitution - Missense 12:48088903-48088903 - PT46 COSM5929454 c.170C>T p.S57F Substitution - Missense 12:48096393-48096393 - ICGC_0037 COSM218410 c.1402G>T p.D468Y Substitution - Missense 12:48063715-48063715 - TCGA-A2-A0T5-01 COSM3812105 c.83T>C p.L28P Substitution - Missense 12:48098046-48098046 - TCGA-AA-3510-01 COSM5099026 c.1276-5C>A p.? Unknown 12:48063846-48063846 - ZZUFHECRKL-G006T COSM5432528 c.586C>T p.Q196* Substitution - Nonsense 12:48074760-48074760 - PT16_1 COSM5898456 c.941-6C>T p.? Unknown 12:48071727-48071727 - 587234 COSM1225204 c.494G>A p.R165H Substitution - Missense 12:48083649-48083649 - Pa04C COSM85634 c.1227_1228insA p.G410fs*3 Insertion - Frameshift 12:48065112-48065113 - CSCC-55-T COSM4504318 c.661C>T p.R221* Substitution - Nonsense 12:48074603-48074603 - 101125 COSM95235 c.11T>C p.I4T Substitution - Missense 12:48098118-48098118 - TCGA-EW-A1OX-01 COSM1476576 c.699A>T p.S233S Substitution - coding silent 12:48074565-48074565 - 2334191 COSM323261 c.493C>T p.R165C Substitution - Missense 12:48083650-48083650 - TCGA-CD-A4MG-01 COSM4042196 c.1455G>T p.K485N Substitution - Missense 12:48049085-48049085 - I2L-P7-Tumor-Organoid COSM5361871 c.193G>A p.A65T Substitution - Missense 12:48096370-48096370 - sysucc-1317T COSM5448503 c.99T>G p.G33G Substitution - coding silent 12:48098030-48098030 - TCGA-EK-A3GJ-01 COSM4852406 c.550G>A p.E184K Substitution - Missense 12:48083593-48083593 - 179T COSM1726218 c.119C>T p.S40L Substitution - Missense 12:48098010-48098010 - Pa18C COSM84154 c.1809G>T p.G603G Substitution - coding silent 12:48046416-48046416 - RDES COSM4575424 c.1470G>T p.V490V Substitution - coding silent 12:48049070-48049070 - pfg068T COSM273226 c.1227delA p.G410fs*4 Deletion - Frameshift 12:48065113-48065113 - TCGA-CM-4746-01 COSM5156749 c.1072C>T p.R358C Substitution - Missense 12:48065643-48065643 - TCGA-B5-A11U-01 COSM939769 c.924A>G p.S308S Substitution - coding silent 12:48074340-48074340 - pfg008T COSM4754616 c.1091A>C p.K364T Substitution - Missense 12:48065624-48065624 - C135 COSM939771 c.496C>T p.R166* Substitution - Nonsense 12:48083647-48083647 - TCGA-AA-3977-01 COSM5117883 c.727T>G p.S243A Substitution - Missense 12:48074537-48074537 - TCGA-66-2783-01 COSM693799 c.1243G>C p.D415H Substitution - Missense 12:48065097-48065097 - KM12 COSM4207874 c.1786C>T p.Q596* Substitution - Nonsense 12:48046439-48046439 - TCGA-EB-A431-01 COSM3461295 c.871C>T p.H291Y Substitution - Missense 12:48074393-48074393 - TCGA-BR-4280-01 COSM4042192 c.1733A>C p.E578A Substitution - Missense 12:48047021-48047021 - H322T COSM1194992 c.1421A>G p.Y474C Substitution - Missense 12:48049119-48049119 - ATL058 COSM4042198 c.529C>T p.R177* Substitution - Nonsense 12:48083614-48083614 - TCGA-D1-A176-01 COSM939770 c.545C>T p.A182V Substitution - Missense 12:48083598-48083598 - SC_9008 COSM273226 c.1227delA p.G410fs*4 Deletion - Frameshift 12:48065113-48065113 - TCGA-AA-3710-01 COSM5104041 c.821_823delCTT p.S274delS Deletion - In frame 12:48074441-48074443 - SC_9008 COSM5558112 c.1449A>G p.K483K Substitution - coding silent 12:48049091-48049091 - TCGA-D8-A1JA-01 COSM3812102 c.562G>A p.E188K Substitution - Missense 12:48074784-48074784 - TCGA-EP-A2KA-01 COSM4917644 c.46A>G p.T16A Substitution - Missense 12:48098083-48098083 - TCGA-FW-A3R5-06 COSM3871697 c.1306C>T p.R436C Substitution - Missense 12:48063811-48063811 - SNU-175 COSM2069143 c.1772G>A p.S591N Substitution - Missense 12:48046982-48046982 - 2492702 COSM5600444 c.572G>A p.R191K Substitution - Missense 12:48074774-48074774 - HCT116 COSM273226 c.1227delA p.G410fs*4 Deletion - Frameshift 12:48065113-48065113 - GC8_T COSM147488 c.504T>C p.L168L Substitution - coding silent 12:48083639-48083639 - BD124T COSM5492949 c.1226_1227insA p.G410fs*3 Insertion - Frameshift 12:48065113-48065114 - TCGA-GM-A2D9-01 COSM3812101 c.1908G>C p.E636D Substitution - Missense 12:48045346-48045346 - PD22355a COSM1562088 c.1307G>A p.R436H Substitution - Missense 12:48063810-48063810 - TCGA-EE-A2GS-06 COSM3461294 c.1171C>T p.R391C Substitution - Missense 12:48065169-48065169 - PT55 COSM3871697 c.1306C>T p.R436C Substitution - Missense 12:48063811-48063811 - TCGA-AA-3966-01 COSM273226 c.1227delA p.G410fs*4 Deletion - Frameshift 12:48065113-48065113 - TCGA-AZ-6601-01 COSM1361856 c.120G>A p.S40S Substitution - coding silent 12:48098009-48098009 - PASLZM COSM5006245 c.1094C>T p.A365V Substitution - Missense 12:48065621-48065621 - HCA7 COSM273226 c.1227delA p.G410fs*4 Deletion - Frameshift 12:48065113-48065113 - TCGA-D1-A103-01 COSM939771 c.496C>T p.R166* Substitution - Nonsense 12:48083647-48083647 - TCGA-CD-8531-01 COSM4042194 c.1614T>C p.V538V Substitution - coding silent 12:48048078-48048078 - TCGA-AG-A002-01 COSM263571 c.890C>A p.S297Y Substitution - Missense 12:48074374-48074374 - L24 COSM5369635 c.1061G>A p.R354Q Substitution - Missense 12:48065654-48065654 - TCGA-DY-A1DC-01 COSM1562088 c.1307G>A p.R436H Substitution - Missense 12:48063810-48063810 - BD152T COSM5506981 c.1264G>T p.E422* Substitution - Nonsense 12:48065076-48065076 - PTC-14C COSM4147070 c.133C>A p.Q45K Substitution - Missense 12:48097996-48097996 - TCGA-BR-6452-01 COSM4042197 c.1361G>A p.R454H Substitution - Missense 12:48063756-48063756 - TCGA-DD-A1EG-01 COSM4915853 c.250T>C p.S84P Substitution - Missense 12:48088931-48088931 - ESCC_107 COSM5638431 c.1831G>A p.D611N Substitution - Missense 12:48046394-48046394 - 2492729 COSM5726677 c.1780C>T p.P594S Substitution - Missense 12:48046445-48046445 - TCGA-BS-A0UJ-01 COSM939774 c.175A>G p.T59A Substitution - Missense 12:48096388-48096388 - 2492701 COSM5600444 c.572G>A p.R191K Substitution - Missense 12:48074774-48074774 - HX17T COSM1606170 c.335C>A p.S112* Substitution - Nonsense 12:48088846-48088846 - RK257_C01 COSM4779316 c.622A>G p.I208V Substitution - Missense 12:48074724-48074724 - TCGA-D8-A1JA-01 COSM3812103 c.507G>C p.L169F Substitution - Missense 12:48083636-48083636 - TCGA-60-2720-01 COSM693801 c.1850G>C p.R617T Substitution - Missense 12:48046375-48046375 - 8062306 COSM3384393 c.1809G>T p.G603G Substitution - coding silent 12:48046416-48046416 - TCGA-D9-A4Z3-01 COSM3461304 c.135+2T>C p.? Unknown 12:48097992-48097992 - C106 COSM4616197 c.1028A>G p.K343R Substitution - Missense 12:48066933-48066933 - TCGA-CG-5728-01 COSM4042199 c.401C>T p.A134V Substitution - Missense 12:48083742-48083742 - TCGA-RP-A694-06 COSM4894524 c.307C>T p.P103S Substitution - Missense 12:48088874-48088874 - CHC451T COSM4957374 c.485G>A p.G162D Substitution - Missense 12:48083658-48083658 - TCGA-BR-4184-01 COSM4042198 c.529C>T p.R177* Substitution - Nonsense 12:48083614-48083614 - TCGA-60-2698-01 COSM693800 c.1314G>A p.G438G Substitution - coding silent 12:48063803-48063803 - 16T COSM3710757 c.226C>A p.P76T Substitution - Missense 12:48088955-48088955 - RK308_C01 COSM3739694 c.1036A>G p.T346A Substitution - Missense 12:48065679-48065679 - CSCC-19-T COSM4567309 c.65_66CC>TT p.S22F Substitution - Missense 12:48098063-48098064 - TCGA-RP-A694-06 COSM4893714 c.1188G>A p.K396K Substitution - coding silent 12:48065152-48065152 - 01-P034 COSM4575425 c.674C>G p.S225C Substitution - Missense 12:48074590-48074590 - TCGA-AP-A051-01 COSM939768 c.953T>C p.V318A Substitution - Missense 12:48071709-48071709 - DLD1 COSM273226 c.1227delA p.G410fs*4 Deletion - Frameshift 12:48065113-48065113 - LP6007508-DNA_A01 COSM5951929 c.1924C>T p.L642F Substitution - Missense 12:48045330-48045330 - TCGA-FP-A4BE-01 COSM4042193 c.1647C>T p.Y549Y Substitution - coding silent 12:48048045-48048045 - 8015259 COSM218410 c.1402G>T p.D468Y Substitution - Missense 12:48063715-48063715 - Gp2D COSM273226 c.1227delA p.G410fs*4 Deletion - Frameshift 12:48065113-48065113 - TCGA-AA-3811-01 COSM273226 c.1227delA p.G410fs*4 Deletion - Frameshift 12:48065113-48065113 - TCGA-EE-A2MR-06 COSM3461293 c.1231C>T p.H411Y Substitution - Missense 12:48065109-48065109 - PD6410a COSM5785456 c.8A>T p.D3V Substitution - Missense 12:48098121-48098121 - S0075 COSM5882260 c.986C>T p.P329L Substitution - Missense 12:48071676-48071676 - TCGA-DK-A3X1-01 COSM3792618 c.361G>A p.E121K Substitution - Missense 12:48088820-48088820 - TCGA-E6-A1LZ-01 COSM939772 c.233C>T p.S78L Substitution - Missense 12:48088948-48088948 - PT36 COSM5916273 c.473C>T p.P158L Substitution - Missense 12:48083670-48083670 - TCGA-CK-5913-01 COSM5106347 c.1227_1228insA p.G410fs*3 Insertion - Frameshift 12:48065112-48065113 - LUAD-RT-S01808 COSM382665 c.541A>G p.T181A Substitution - Missense 12:48083602-48083602 - TCGA-EE-A2GI-06 COSM3461297 c.472C>T p.P158S Substitution - Missense 12:48083671-48083671 - TCGA-E9-A5FL-01 COSM3812100 c.1918C>T p.R640* Substitution - Nonsense 12:48045336-48045336 - S15_post COSM5574963 c.602T>A p.V201D Substitution - Missense 12:48074744-48074744 - 2492700 COSM5600444 c.572G>A p.R191K Substitution - Missense 12:48074774-48074774 - ESCC_125 COSM5641089 c.530G>A p.R177Q Substitution - Missense 12:48083613-48083613 - Gp5D COSM273226 c.1227delA p.G410fs*4 Deletion - Frameshift 12:48065113-48065113 - C135 COSM273226 c.1227delA p.G410fs*4 Deletion - Frameshift 12:48065113-48065113 - TCGA-FD-A3B6-01 COSM1299405 c.368G>A p.R123Q Substitution - Missense 12:48088813-48088813 - TCGA-AA-3663-01 COSM1361855 c.1251A>G p.E417E Substitution - coding silent 12:48065089-48065089 - 392 COSM3792618 c.361G>A p.E121K Substitution - Missense 12:48088820-48088820 - TCGA-AR-A24O-01 COSM1476577 c.280G>A p.A94T Substitution - Missense 12:48088901-48088901 - ME009T COSM223542 c.983C>T p.T328I Substitution - Missense 12:48071679-48071679 - TCGA-FW-A3R5-06 COSM3871698 c.418C>T p.H140Y Substitution - Missense 12:48083725-48083725 - OSCC-GB_00530111 COSM4883532 c.24G>A p.M8I Substitution - Missense 12:48098105-48098105 - TCGA-EP-A2KA-01 COSM4917197 c.89C>T p.P30L Substitution - Missense 12:48098040-48098040 - TCGA-FU-A3HY-01 COSM4838713 c.1405G>A p.E469K Substitution - Missense 12:48063712-48063712 - 587376 COSM1225205 c.1195C>T p.P399S Substitution - Missense 12:48065145-48065145 - TCGA-66-2763-01 COSM693797 c.380G>A p.S127N Substitution - Missense 12:48088801-48088801 - 392 COSM4428105 c.937G>C p.E313Q Substitution - Missense 12:48074327-48074327 - TCGA-AP-A059-01 COSM939767 c.1441C>T p.R481* Substitution - Nonsense 12:48049099-48049099 - TCGA-DA-A1HV-06 COSM3461298 c.345C>T p.S115S Substitution - coding silent 12:48088836-48088836 - LIM1899 COSM273226 c.1227delA p.G410fs*4 Deletion - Frameshift 12:48065113-48065113 - 587256 COSM1225206 c.1055G>A p.R352Q Substitution - Missense 12:48065660-48065660 - TCGA-EB-A3XB-01 COSM3461299 c.226C>T p.P76S Substitution - Missense 12:48088955-48088955 - TCGA-FS-A1ZA-06 COSM3461306 c.104C>T p.P35L Substitution - Missense 12:48098025-48098025 - TCGA-AA-3530-01 COSM273226 c.1227delA p.G410fs*4 Deletion - Frameshift 12:48065113-48065113 - OSCC-GB_00160111 COSM3710757 c.226C>A p.P76T Substitution - Missense 12:48088955-48088955 - CHC451T COSM4957374 c.485G>A p.G162D Substitution - Missense 12:48083658-48083658 - TCGA-AP-A056-01 COSM939771 c.496C>T p.R166* Substitution - Nonsense 12:48083647-48083647 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.371957 12q13.1 612157

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer - A Frameshift p.G410Rfs*3 c.1227dupA 12 48458897 PAAD A T 3-UTRSNV . c.1929+2218T>A 12 48436890 DLBCL A T 5-UTRSNV . c.1-35T>A 12 48495290 RCCC AT - Frameshift p.Y609Cfs*2 c.1826_1827delAT 12 48440181 BRCA C A Missense p.D468Y c.1402G>T 12 48457498 PAAD C G 3-UTRSNV . c.1929+872G>C 12 48438236 HC C G Missense p.D415H c.1243G>C 12 48458880 LUSC C G Missense p.R617T c.1850G>C 12 48440158 LUSC C T Missense p.A94T c.280G>A 12 48482684 BRCA C T Missense p.R123Q c.368G>A 12 48482596 BLCA C T Missense p.S127N c.380G>A 12 48482584 LUSC C T Synonymous p.E484E c.1452G>A 12 48442871 CM C T Synonymous p.Q327Q c.981G>A 12 48465464 GBM G A Missense p.A134V c.401C>T 12 48477525 STAD G A Missense p.A492V c.1475C>T 12 48442848 RCCC G A Missense p.P158S c.472C>T 12 48477454 CM G A Missense p.P35L c.104C>T 12 48491808 CM G A Missense p.R165C c.493C>T 12 48477433 SCLC G A Missense p.R391C c.1171C>T 12 48458952 CM G A Missense p.T328I c.983C>T 12 48465462 CM G A Synonymous p.S115S c.345C>T 12 48482619 CM G C Nonsense p.S130* c.389C>G 12 48477537 HNSC G T Missense p.P277Q c.830C>A 12 48468217 STAD G T Synonymous p.G603G c.1809G>T 12 48440199 PAAD T A Missense p.I431L c.1291A>T 12 48457609 HNSC T A Synonymous p.S233S c.699A>T 12 48468348 BRCA T C Missense p.T288A c.862A>G 12 48468185 HNSC T C Missense p.T451A c.1351A>G 12 48457549 MM T C Synonymous p.S308S c.924A>G 12 48468123 UCEC T - Frameshift p.G410Vfs*4 c.1227delA 12 48458896 STAD T G Missense p.E578A c.1733A>C 12 48440804 STAD