Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 2 172582534 172582534 + Missense_Mutation SNP C C G TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr2:172582534C>G c.713C>G c.(712-714)tCt>tGt p.S238C BLCA 2 172586293 172586293 + Missense_Mutation SNP G G C TCGA-FD-A62P-01A-32D-A30E-08 TCGA-FD-A62P-10A-01D-A30H-08 g.chr2:172586293G>C c.1466G>C c.(1465-1467)gGa>gCa p.G489A BLCA 2 172602338 172602338 + Missense_Mutation SNP G G T TCGA-DK-AA77-01A-11D-A391-08 TCGA-DK-AA77-10A-01D-A394-08 g.chr2:172602338G>T c.1704G>T c.(1702-1704)gaG>gaT p.E568D BLCA 2 172602403 172602403 + Missense_Mutation SNP C C T TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr2:172602403C>T c.1769C>T c.(1768-1770)tCt>tTt p.S590F CESC 2 172569303 172569303 + Missense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 g.chr2:172569303C>T c.362C>T c.(361-363)tCa>tTa p.S121L CESC 2 172569311 172569311 + Nonsense_Mutation SNP C C T TCGA-EK-A2RD-01A-12D-A20U-09 TCGA-EK-A2RD-10A-01D-A20U-09 g.chr2:172569311C>T c.370C>T c.(370-372)Cag>Tag p.Q124* CESC 2 172585296 172585296 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr2:172585296G>A c.1327G>A c.(1327-1329)Gat>Aat p.D443N CESC 2 172586253 172586253 + Missense_Mutation SNP C C G TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chr2:172586253C>G c.1426C>G c.(1426-1428)Caa>Gaa p.Q476E CESC 2 172600662 172600662 + Missense_Mutation SNP G G T TCGA-Q1-A6DV-01A-11D-A32I-09 TCGA-Q1-A6DV-10A-01D-A32I-09 g.chr2:172600662G>T c.1640G>T c.(1639-1641)gGg>gTg p.G547V CESC 2 172604356 172604356 + Missense_Mutation SNP G G A TCGA-DS-A7WH-01A-22D-A351-09 TCGA-DS-A7WH-10A-01D-A351-09 g.chr2:172604356G>A c.1874G>A c.(1873-1875)cGa>cAa p.R625Q COAD 2 172549338 172549339 + Frame_Shift_Ins INS - - A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:172549338_172549339insA c.160_161insA c.(160-162)gaafs p.E54fs COAD 2 172563856 172563856 + Nonsense_Mutation SNP C C T TCGA-A6-5664-01A-21D-1835-10 TCGA-A6-5664-10A-01D-1835-10 g.chr2:172563856C>T c.304C>T c.(304-306)Caa>Taa p.Q102* COAD 2 172569286 172569286 + Silent SNP T T C TCGA-A6-5662-01A-01D-1650-10 TCGA-A6-5662-10A-01D-1650-10 g.chr2:172569286T>C c.345T>C c.(343-345)caT>caC p.H115H COAD 2 172582223 172582223 + Splice_Site SNP G G T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr2:172582223G>T c.607G>T c.(607-609)Gct>Tct p.A203S COAD 2 172582555 172582555 + Missense_Mutation SNP T T G TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr2:172582555T>G c.734T>G c.(733-735)tTt>tGt p.F245C COAD 2 172584387 172584387 + Silent SNP T T C TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr2:172584387T>C c.1053T>C c.(1051-1053)ggT>ggC p.G351G COAD 2 172584421 172584421 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr2:172584421C>T c.1087C>T c.(1087-1089)Cgt>Tgt p.R363C COAD 2 172584914 172584914 + Missense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr2:172584914C>T c.1243C>T c.(1243-1245)Ctt>Ttt p.L415F COAD 2 172585320 172585320 + Missense_Mutation SNP A A G TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr2:172585320A>G c.1351A>G c.(1351-1353)Agt>Ggt p.S451G COAD 2 172604355 172604355 + Nonsense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr2:172604355C>T c.1873C>T c.(1873-1875)Cga>Tga p.R625* COADREAD 2 172549338 172549339 + Frame_Shift_Ins INS - - A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr2:172549338_172549339insA c.160_161insA c.(160-162)gaafs p.E54fs COADREAD 2 172563856 172563856 + Nonsense_Mutation SNP C C T TCGA-A6-5664-01A-21D-1835-10 TCGA-A6-5664-10A-01D-1835-10 g.chr2:172563856C>T c.304C>T c.(304-306)Caa>Taa p.Q102* COADREAD 2 172569286 172569286 + Silent SNP T T C TCGA-A6-5662-01A-01D-1650-10 TCGA-A6-5662-10A-01D-1650-10 g.chr2:172569286T>C c.345T>C c.(343-345)caT>caC p.H115H COADREAD 2 172582223 172582223 + Splice_Site SNP G G T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr2:172582223G>T c.607G>T c.(607-609)Gct>Tct p.A203S COADREAD 2 172582555 172582555 + Missense_Mutation SNP T T G TCGA-AA-3949-01A-01W-0995-10 TCGA-AA-3949-10A-01W-0995-10 g.chr2:172582555T>G c.734T>G c.(733-735)tTt>tGt p.F245C COADREAD 2 172584373 172584373 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:172584373C>A c.1039C>A c.(1039-1041)Ctt>Att p.L347I COADREAD 2 172584387 172584387 + Silent SNP T T C TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr2:172584387T>C c.1053T>C c.(1051-1053)ggT>ggC p.G351G COADREAD 2 172584421 172584421 + Missense_Mutation SNP C C T TCGA-AA-3710-01A-01W-0995-10 TCGA-AA-3710-10A-01W-0995-10 g.chr2:172584421C>T c.1087C>T c.(1087-1089)Cgt>Tgt p.R363C COADREAD 2 172584914 172584914 + Missense_Mutation SNP C C T TCGA-CM-5861-01A-01D-1650-10 TCGA-CM-5861-10A-01D-1650-10 g.chr2:172584914C>T c.1243C>T c.(1243-1245)Ctt>Ttt p.L415F COADREAD 2 172585320 172585320 + Missense_Mutation SNP A A G TCGA-AD-6889-01A-11D-1924-10 TCGA-AD-6889-10A-01D-1924-10 g.chr2:172585320A>G c.1351A>G c.(1351-1353)Agt>Ggt p.S451G COADREAD 2 172604355 172604355 + Nonsense_Mutation SNP C C T TCGA-AA-3877-01A-01W-0995-10 TCGA-AA-3877-10A-01W-0995-10 g.chr2:172604355C>T c.1873C>T c.(1873-1875)Cga>Tga p.R625* ESCA 2 172549338 172549339 + Frame_Shift_Ins INS - - A TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 g.chr2:172549338_172549339insA c.160_161insA c.(160-162)gaafs p.E54fs ESCA 2 172584463 172584463 + Missense_Mutation SNP G G A TCGA-JY-A6FD-01A-11D-A33E-09 TCGA-JY-A6FD-10A-01D-A33H-09 g.chr2:172584463G>A c.1129G>A c.(1129-1131)Gca>Aca p.A377T ESCA 2 172584836 172584836 + Missense_Mutation SNP G G T TCGA-LN-A7HW-01A-22D-A351-09 TCGA-LN-A7HW-10A-01D-A351-09 g.chr2:172584836G>T c.1165G>T c.(1165-1167)Gtt>Ttt p.V389F ESCA 2 172585301 172585301 + Silent SNP C C A TCGA-LN-A49L-01A-11D-A247-09 TCGA-LN-A49L-10A-01D-A247-09 g.chr2:172585301C>A c.1332C>A c.(1330-1332)gtC>gtA p.V444V GBMLGG 2 172549335 172549335 + Missense_Mutation SNP C C T TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 g.chr2:172549335C>T c.157C>T c.(157-159)Ctt>Ttt p.L53F GBMLGG 2 172585349 172585349 + Silent SNP C C T TCGA-FG-A711-01A-21D-A33T-08 TCGA-FG-A711-10A-01D-A33W-08 g.chr2:172585349C>T c.1380C>T c.(1378-1380)tgC>tgT p.C460C GBMLGG 2 172586272 172586272 + Missense_Mutation SNP T T C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 g.chr2:172586272T>C c.1445T>C c.(1444-1446)aTc>aCc p.I482T HNSC 2 172569318 172569319 + Frame_Shift_Ins INS - - C TCGA-BB-A6UO-01A-12D-A34J-08 TCGA-BB-A6UO-10A-01D-A34M-08 g.chr2:172569318_172569319insC c.377_378insC c.(376-381)cactcafs p.S127fs HNSC 2 172582533 172582533 + Missense_Mutation SNP T T G TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr2:172582533T>G c.712T>G c.(712-714)Tct>Gct p.S238A KIPAN 2 172582207 172582208 + Frame_Shift_Ins INS - - GA TCGA-UZ-A9PX-01A-11D-A42J-10 TCGA-UZ-A9PX-10A-01D-A42M-10 g.chr2:172582207_172582208insGA c.591_592insGA c.(592-594)gaafs p.E198fs KIRP 2 172582207 172582208 + Frame_Shift_Ins INS - - GA TCGA-UZ-A9PX-01A-11D-A42J-10 TCGA-UZ-A9PX-10A-01D-A42M-10 g.chr2:172582207_172582208insGA c.591_592insGA c.(592-594)gaafs p.E198fs LGG 2 172549335 172549335 + Missense_Mutation SNP C C T TCGA-DH-A669-01A-12D-A31L-08 TCGA-DH-A669-10A-01D-A31J-08 g.chr2:172549335C>T c.157C>T c.(157-159)Ctt>Ttt p.L53F LGG 2 172585349 172585349 + Silent SNP C C T TCGA-FG-A711-01A-21D-A33T-08 TCGA-FG-A711-10A-01D-A33W-08 g.chr2:172585349C>T c.1380C>T c.(1378-1380)tgC>tgT p.C460C LGG 2 172586272 172586272 + Missense_Mutation SNP T T C TCGA-CS-6666-01A-11D-1893-08 TCGA-CS-6666-10A-01D-1893-08 g.chr2:172586272T>C c.1445T>C c.(1444-1446)aTc>aCc p.I482T LIHC 2 172563798 172563799 + Splice_Site INS - - CCT TCGA-DD-AAW1-01A-11D-A40P-10 TCGA-DD-AAW1-10A-01D-A40P-10 g.chr2:172563798_172563799insCCT c.246_247insCCT c.(247-249)cct>CCTcct p.83_83P>PP LUAD 2 172546761 172546762 + Frame_Shift_Ins INS - - A TCGA-86-8055-01A-11D-2238-08 TCGA-86-8055-10A-01D-2238-08 g.chr2:172546761_172546762insA c.96_97insA c.(97-99)aaafs p.K33fs LUAD 2 172549360 172549360 + Missense_Mutation SNP A A T TCGA-44-7672-01A-11D-2063-08 TCGA-44-7672-10A-01D-2063-08 g.chr2:172549360A>T c.182A>T c.(181-183)gAa>gTa p.E61V LUAD 2 172584813 172584813 + Splice_Site DEL A A - TCGA-62-8399-01A-21D-2323-08 TCGA-62-8399-10A-01D-2323-08 g.chr2:172584813delA c.e13-1 LUAD 2 172586275 172586275 + Missense_Mutation SNP A A G TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr2:172586275A>G c.1448A>G c.(1447-1449)cAt>cGt p.H483R LUSC 2 172582502 172582502 + Missense_Mutation SNP C C G TCGA-33-6737-01A-11D-1817-08 TCGA-33-6737-11A-01D-1817-08 g.chr2:172582502C>G c.681C>G c.(679-681)gaC>gaG p.D227E OV 2 172569285 172569285 + Missense_Mutation SNP A A T TCGA-13-0894-01B-01W-0494-09 TCGA-13-0894-10A-01W-0494-09 g.chr2:172569285A>T c.344A>T c.(343-345)cAt>cTt p.H115L PAAD 2 172584337 172584337 + Missense_Mutation SNP G G A TCGA-2J-AABP-01A-11D-A40W-08 TCGA-2J-AABP-10A-01D-A40W-08 g.chr2:172584337G>A c.1003G>A c.(1003-1005)Gtg>Atg p.V335M READ 2 172584373 172584373 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr2:172584373C>A c.1039C>A c.(1039-1041)Ctt>Att p.L347I SARC 2 172602373 172602373 + Missense_Mutation SNP A A G TCGA-DX-A7ES-01A-31D-A38Z-09 TCGA-DX-A7ES-10A-01D-A38Z-09 g.chr2:172602373A>G c.1739A>G c.(1738-1740)cAt>cGt p.H580R SKCM 2 172563838 172563838 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr2:172563838C>T c.286C>T c.(286-288)Cca>Tca p.P96S SKCM 2 172563839 172563839 + Missense_Mutation SNP C C T TCGA-EE-A2GR-06A-11D-A197-08 TCGA-EE-A2GR-10A-01D-A199-08 g.chr2:172563839C>T c.287C>T c.(286-288)cCa>cTa p.P96L SKCM 2 172563854 172563854 + Missense_Mutation SNP G G A TCGA-FS-A1ZK-06A-11D-A197-08 TCGA-FS-A1ZK-10A-01D-A199-08 g.chr2:172563854G>A c.302G>A c.(301-303)aGc>aAc p.S101N SKCM 2 172582157 172582157 + Missense_Mutation SNP C C T TCGA-EE-A3AF-06A-11D-A196-08 TCGA-EE-A3AF-10A-01D-A198-08 g.chr2:172582157C>T c.541C>T c.(541-543)Cct>Tct p.P181S SKCM 2 172582164 172582164 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:172582164C>T c.548C>T c.(547-549)cCa>cTa p.P183L SKCM 2 172582223 172582223 + Splice_Site SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr2:172582223G>A c.607G>A c.(607-609)Gct>Act p.A203T SKCM 2 172585245 172585245 + Missense_Mutation SNP C C T TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr2:172585245C>T c.1276C>T c.(1276-1278)Cat>Tat p.H426Y

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BOCA-FR 2 172575955 172575955 single base substitution C T downstream_gene_variant BOCA-FR 2 172575955 172575955 single base substitution C T intron_variant BRCA-EU 2 172539227 172539227 single base substitution C A upstream_gene_variant BRCA-EU 2 172540472 172540472 single base substitution A G upstream_gene_variant BRCA-EU 2 172540679 172540679 single base substitution A T upstream_gene_variant BRCA-EU 2 172541175 172541175 single base substitution G A upstream_gene_variant BRCA-EU 2 172541493 172541493 single base substitution C G upstream_gene_variant BRCA-EU 2 172541917 172541917 single base substitution G A upstream_gene_variant BRCA-EU 2 172543024 172543024 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 172543342 172543342 single base substitution G C upstream_gene_variant BRCA-EU 2 172544809 172544809 single base substitution C G intron_variant BRCA-EU 2 172544809 172544809 single base substitution C G upstream_gene_variant BRCA-EU 2 172548224 172548224 single base substitution C G intron_variant BRCA-EU 2 172548655 172548655 single base substitution C G intron_variant BRCA-EU 2 172549321 172549321 single base substitution A G exon_variant BRCA-EU 2 172549321 172549321 single base substitution A G missense_variant Q48R 143A>G BRCA-EU 2 172549339 172549339 deletion of <=200bp A - exon_variant BRCA-EU 2 172549339 172549339 deletion of <=200bp A - frameshift_variant E54 BRCA-EU 2 172550249 172550249 single base substitution T G downstream_gene_variant BRCA-EU 2 172550249 172550249 single base substitution T G intron_variant BRCA-EU 2 172550300 172550300 single base substitution G C downstream_gene_variant BRCA-EU 2 172550300 172550300 single base substitution G C intron_variant BRCA-EU 2 172551736 172551736 single base substitution A C downstream_gene_variant BRCA-EU 2 172551736 172551736 single base substitution A C intron_variant BRCA-EU 2 172552367 172552367 single base substitution G A downstream_gene_variant BRCA-EU 2 172552367 172552367 single base substitution G A intron_variant BRCA-EU 2 172553505 172553510 deletion of <=200bp ATTATT - downstream_gene_variant BRCA-EU 2 172553505 172553510 deletion of <=200bp ATTATT - intron_variant BRCA-EU 2 172553627 172553627 single base substitution C A downstream_gene_variant BRCA-EU 2 172553627 172553627 single base substitution C A intron_variant BRCA-EU 2 172554231 172554231 single base substitution G C downstream_gene_variant BRCA-EU 2 172554231 172554231 single base substitution G C intron_variant BRCA-EU 2 172554808 172554808 single base substitution G C intron_variant BRCA-EU 2 172556293 172556293 single base substitution G A intron_variant BRCA-EU 2 172556444 172556444 single base substitution C G intron_variant BRCA-EU 2 172556941 172556941 single base substitution C T intron_variant BRCA-EU 2 172556959 172556959 single base substitution T C intron_variant BRCA-EU 2 172557979 172557979 single base substitution C T intron_variant BRCA-EU 2 172559949 172559949 single base substitution G C intron_variant BRCA-EU 2 172559949 172559949 single base substitution G C upstream_gene_variant BRCA-EU 2 172560157 172560157 single base substitution C T intron_variant BRCA-EU 2 172560157 172560157 single base substitution C T upstream_gene_variant BRCA-EU 2 172560985 172560985 single base substitution A G intron_variant BRCA-EU 2 172560985 172560985 single base substitution A G upstream_gene_variant BRCA-EU 2 172561589 172561589 single base substitution A C intron_variant BRCA-EU 2 172561589 172561589 single base substitution A C upstream_gene_variant BRCA-EU 2 172562214 172562214 single base substitution C G intron_variant BRCA-EU 2 172562214 172562214 single base substitution C G upstream_gene_variant BRCA-EU 2 172562943 172562943 single base substitution G A intron_variant BRCA-EU 2 172562943 172562943 single base substitution G A upstream_gene_variant BRCA-EU 2 172563244 172563244 single base substitution C G intron_variant BRCA-EU 2 172563244 172563244 single base substitution C G upstream_gene_variant BRCA-EU 2 172564061 172564061 deletion of <=200bp T - intron_variant BRCA-EU 2 172564061 172564061 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 172564832 172564832 single base substitution A C intron_variant BRCA-EU 2 172564832 172564832 single base substitution A C upstream_gene_variant BRCA-EU 2 172565553 172565553 deletion of <=200bp T - intron_variant BRCA-EU 2 172565553 172565553 deletion of <=200bp T - upstream_gene_variant BRCA-EU 2 172566347 172566347 single base substitution C A intron_variant BRCA-EU 2 172566347 172566347 single base substitution C A upstream_gene_variant BRCA-EU 2 172566627 172566627 single base substitution A G intron_variant BRCA-EU 2 172566627 172566627 single base substitution A G upstream_gene_variant BRCA-EU 2 172567303 172567303 single base substitution C T intron_variant BRCA-EU 2 172567303 172567303 single base substitution C T upstream_gene_variant BRCA-EU 2 172567609 172567609 single base substitution G A intron_variant BRCA-EU 2 172567609 172567609 single base substitution G A upstream_gene_variant BRCA-EU 2 172568380 172568380 single base substitution C T intron_variant BRCA-EU 2 172568380 172568380 single base substitution C T upstream_gene_variant BRCA-EU 2 172569610 172569610 single base substitution C G downstream_gene_variant BRCA-EU 2 172569610 172569610 single base substitution C G intron_variant BRCA-EU 2 172569610 172569610 single base substitution C G upstream_gene_variant BRCA-EU 2 172571696 172571696 single base substitution A G downstream_gene_variant BRCA-EU 2 172571696 172571696 single base substitution A G intron_variant BRCA-EU 2 172571696 172571696 single base substitution A G upstream_gene_variant BRCA-EU 2 172574181 172574181 single base substitution T G downstream_gene_variant BRCA-EU 2 172574181 172574181 single base substitution T G intron_variant BRCA-EU 2 172584261 172584261 single base substitution G A downstream_gene_variant BRCA-EU 2 172584261 172584261 single base substitution G A intron_variant BRCA-EU 2 172585811 172585811 single base substitution A T downstream_gene_variant BRCA-EU 2 172585811 172585811 single base substitution A T intron_variant BRCA-EU 2 172586877 172586877 single base substitution G A downstream_gene_variant BRCA-EU 2 172586877 172586877 single base substitution G A intron_variant BRCA-EU 2 172587214 172587214 insertion of <=200bp - T downstream_gene_variant BRCA-EU 2 172587214 172587214 insertion of <=200bp - T intron_variant BRCA-EU 2 172587621 172587621 insertion of <=200bp - T downstream_gene_variant BRCA-EU 2 172587621 172587621 insertion of <=200bp - T intron_variant BRCA-EU 2 172587909 172587909 single base substitution C T downstream_gene_variant BRCA-EU 2 172587909 172587909 single base substitution C T intron_variant BRCA-EU 2 172589682 172589682 single base substitution C G intron_variant BRCA-EU 2 172589692 172589692 single base substitution C A intron_variant BRCA-EU 2 172590164 172590164 single base substitution T G intron_variant BRCA-EU 2 172590251 172590251 deletion of <=200bp T - intron_variant BRCA-EU 2 172591488 172591521 deletion of <=200bp CTCATGAATTTAACAGACTTTAAATGTTTTGCTT - intron_variant BRCA-EU 2 172591631 172591631 single base substitution C T intron_variant BRCA-EU 2 172592493 172592493 single base substitution T C intron_variant BRCA-EU 2 172592887 172592887 single base substitution C G intron_variant BRCA-EU 2 172593348 172593348 single base substitution A T intron_variant BRCA-EU 2 172593395 172593395 single base substitution G T intron_variant BRCA-EU 2 172596546 172596546 insertion of <=200bp - C intron_variant BRCA-EU 2 172596766 172596766 single base substitution G A intron_variant BRCA-EU 2 172597237 172597237 single base substitution T A intron_variant BRCA-EU 2 172597461 172597461 single base substitution T C intron_variant BRCA-EU 2 172600583 172600583 single base substitution G C exon_variant BRCA-EU 2 172600583 172600583 single base substitution G C missense_variant E495Q 1483G>C BRCA-EU 2 172600583 172600583 single base substitution G C missense_variant E513Q 1537G>C BRCA-EU 2 172600583 172600583 single base substitution G C missense_variant E515Q 1543G>C BRCA-EU 2 172600583 172600583 single base substitution G C missense_variant E521Q 1561G>C BRCA-EU 2 172601069 172601069 single base substitution C G intron_variant BRCA-EU 2 172601628 172601628 insertion of <=200bp - T intron_variant BRCA-EU 2 172601894 172601894 single base substitution A G intron_variant BRCA-EU 2 172603007 172603007 deletion of <=200bp A - intron_variant BRCA-EU 2 172603490 172603490 single base substitution G A intron_variant BRCA-EU 2 172608949 172608949 single base substitution G C downstream_gene_variant BRCA-FR 2 172541175 172541175 single base substitution G A upstream_gene_variant BRCA-FR 2 172541493 172541493 single base substitution C G upstream_gene_variant BRCA-FR 2 172549321 172549321 single base substitution A G exon_variant BRCA-FR 2 172549321 172549321 single base substitution A G missense_variant Q48R 143A>G BRCA-FR 2 172589692 172589692 single base substitution C A intron_variant BRCA-FR 2 172605258 172605258 single base substitution G C downstream_gene_variant BRCA-KR 2 172600716 172600716 single base substitution C A intron_variant BRCA-UK 2 172541058 172541058 single base substitution C G upstream_gene_variant BTCA-JP 2 172584848 172584848 single base substitution C G downstream_gene_variant BTCA-JP 2 172584848 172584848 single base substitution C G exon_variant BTCA-JP 2 172584848 172584848 single base substitution C G missense_variant Q367E 1099C>G BTCA-JP 2 172584848 172584848 single base substitution C G missense_variant Q385E 1153C>G BTCA-JP 2 172584848 172584848 single base substitution C G missense_variant Q387E 1159C>G BTCA-JP 2 172584848 172584848 single base substitution C G missense_variant Q393E 1177C>G BTCA-JP 2 172602355 172602355 single base substitution A G exon_variant BTCA-JP 2 172602355 172602355 single base substitution A G missense_variant N548S 1643A>G BTCA-JP 2 172602355 172602355 single base substitution A G missense_variant N566S 1697A>G BTCA-JP 2 172602355 172602355 single base substitution A G missense_variant N568S 1703A>G BTCA-JP 2 172602355 172602355 single base substitution A G missense_variant N574S 1721A>G BTCA-JP 2 172602500 172602500 single base substitution T C intron_variant CESC-US 2 172549339 172549339 deletion of <=200bp A - exon_variant CESC-US 2 172549339 172549339 deletion of <=200bp A - frameshift_variant E54 CESC-US 2 172569303 172569303 single base substitution C T downstream_gene_variant CESC-US 2 172569303 172569303 single base substitution C T exon_variant CESC-US 2 172569303 172569303 single base substitution C T intron_variant CESC-US 2 172569303 172569303 single base substitution C T missense_variant S115L 344C>T CESC-US 2 172569303 172569303 single base substitution C T missense_variant S121L 362C>T CESC-US 2 172569303 172569303 single base substitution C T missense_variant S133L 398C>T CESC-US 2 172569303 172569303 single base substitution C T upstream_gene_variant CESC-US 2 172569311 172569311 single base substitution C T downstream_gene_variant CESC-US 2 172569311 172569311 single base substitution C T exon_variant CESC-US 2 172569311 172569311 single base substitution C T intron_variant CESC-US 2 172569311 172569311 single base substitution C T stop_gained Q118* 352C>T CESC-US 2 172569311 172569311 single base substitution C T stop_gained Q124* 370C>T CESC-US 2 172569311 172569311 single base substitution C T stop_gained Q136* 406C>T CESC-US 2 172569311 172569311 single base substitution C T upstream_gene_variant CESC-US 2 172585296 172585296 single base substitution G A downstream_gene_variant CESC-US 2 172585296 172585296 single base substitution G A exon_variant CESC-US 2 172585296 172585296 single base substitution G A missense_variant D417N 1249G>A CESC-US 2 172585296 172585296 single base substitution G A missense_variant D435N 1303G>A CESC-US 2 172585296 172585296 single base substitution G A missense_variant D437N 1309G>A CESC-US 2 172585296 172585296 single base substitution G A missense_variant D443N 1327G>A CESC-US 2 172585298 172585298 single base substitution T C downstream_gene_variant CESC-US 2 172585298 172585298 single base substitution T C exon_variant CESC-US 2 172585298 172585298 single base substitution T C synonymous_variant D417D 1251T>C CESC-US 2 172585298 172585298 single base substitution T C synonymous_variant D435D 1305T>C CESC-US 2 172585298 172585298 single base substitution T C synonymous_variant D437D 1311T>C CESC-US 2 172585298 172585298 single base substitution T C synonymous_variant D443D 1329T>C CESC-US 2 172586253 172586253 single base substitution C G downstream_gene_variant CESC-US 2 172586253 172586253 single base substitution C G exon_variant CESC-US 2 172586253 172586253 single base substitution C G missense_variant Q450E 1348C>G CESC-US 2 172586253 172586253 single base substitution C G missense_variant Q468E 1402C>G CESC-US 2 172586253 172586253 single base substitution C G missense_variant Q470E 1408C>G CESC-US 2 172586253 172586253 single base substitution C G missense_variant Q476E 1426C>G CESC-US 2 172600662 172600662 single base substitution G T exon_variant CESC-US 2 172600662 172600662 single base substitution G T missense_variant G521V 1562G>T CESC-US 2 172600662 172600662 single base substitution G T missense_variant G539V 1616G>T CESC-US 2 172600662 172600662 single base substitution G T missense_variant G541V 1622G>T CESC-US 2 172600662 172600662 single base substitution G T missense_variant G547V 1640G>T CESC-US 2 172604356 172604356 single base substitution G A exon_variant CESC-US 2 172604356 172604356 single base substitution G A missense_variant R598Q 1793G>A CESC-US 2 172604356 172604356 single base substitution G A missense_variant R599Q 1796G>A CESC-US 2 172604356 172604356 single base substitution G A missense_variant R617Q 1850G>A CESC-US 2 172604356 172604356 single base substitution G A missense_variant R619Q 1856G>A CESC-US 2 172604356 172604356 single base substitution G A missense_variant R624Q 1871G>A CESC-US 2 172604356 172604356 single base substitution G A missense_variant R625Q 1874G>A CLLE-ES 2 172542908 172542908 single base substitution T A upstream_gene_variant CLLE-ES 2 172574101 172574101 single base substitution G T downstream_gene_variant CLLE-ES 2 172574101 172574101 single base substitution G T intron_variant CLLE-ES 2 172576561 172576561 single base substitution A T downstream_gene_variant CLLE-ES 2 172576561 172576561 single base substitution A T intron_variant CLLE-ES 2 172585908 172585908 single base substitution A T downstream_gene_variant CLLE-ES 2 172585908 172585908 single base substitution A T intron_variant CLLE-ES 2 172590725 172590725 single base substitution C T intron_variant COAD-US 2 172546762 172546762 deletion of <=200bp A - exon_variant COAD-US 2 172546762 172546762 deletion of <=200bp A - frameshift_variant K33 COAD-US 2 172549338 172549338 insertion of <=200bp - A exon_variant COAD-US 2 172549338 172549338 insertion of <=200bp - A frameshift_variant E54R? COAD-US 2 172549339 172549339 deletion of <=200bp A - exon_variant COAD-US 2 172549339 172549339 deletion of <=200bp A - frameshift_variant E54 COAD-US 2 172584914 172584914 single base substitution C T downstream_gene_variant COAD-US 2 172584914 172584914 single base substitution C T exon_variant COAD-US 2 172584914 172584914 single base substitution C T missense_variant L389F 1165C>T COAD-US 2 172584914 172584914 single base substitution C T missense_variant L407F 1219C>T COAD-US 2 172584914 172584914 single base substitution C T missense_variant L409F 1225C>T COAD-US 2 172584914 172584914 single base substitution C T missense_variant L415F 1243C>T COAD-US 2 172585320 172585320 single base substitution A G downstream_gene_variant COAD-US 2 172585320 172585320 single base substitution A G exon_variant COAD-US 2 172585320 172585320 single base substitution A G missense_variant S425G 1273A>G COAD-US 2 172585320 172585320 single base substitution A G missense_variant S443G 1327A>G COAD-US 2 172585320 172585320 single base substitution A G missense_variant S445G 1333A>G COAD-US 2 172585320 172585320 single base substitution A G missense_variant S451G 1351A>G COCA-CN 2 172569229 172569229 single base substitution T G exon_variant COCA-CN 2 172569229 172569229 single base substitution T G intron_variant COCA-CN 2 172569229 172569229 single base substitution T G upstream_gene_variant COCA-CN 2 172583214 172583214 single base substitution A C downstream_gene_variant COCA-CN 2 172583214 172583214 single base substitution A C exon_variant COCA-CN 2 172583214 172583214 single base substitution A C intron_variant COCA-CN 2 172604128 172604128 single base substitution T C intron_variant EOPC-DE 2 172590510 172590510 single base substitution C A intron_variant EOPC-DE 2 172590519 172590519 single base substitution A G intron_variant ESAD-UK 2 172540601 172540601 single base substitution A G upstream_gene_variant ESAD-UK 2 172541136 172541136 insertion of <=200bp - T upstream_gene_variant ESAD-UK 2 172542889 172542889 single base substitution G A upstream_gene_variant ESAD-UK 2 172543573 172543573 single base substitution C T upstream_gene_variant ESAD-UK 2 172543635 172543635 insertion of <=200bp - AT upstream_gene_variant ESAD-UK 2 172544185 172544185 single base substitution T C 5_prime_UTR_variant ESAD-UK 2 172544185 172544185 single base substitution T C intron_variant ESAD-UK 2 172544185 172544185 single base substitution T C upstream_gene_variant ESAD-UK 2 172544607 172544607 single base substitution G A 5_prime_UTR_variant ESAD-UK 2 172544607 172544607 single base substitution G A intron_variant ESAD-UK 2 172544607 172544607 single base substitution G A upstream_gene_variant ESAD-UK 2 172547674 172547674 single base substitution T G intron_variant ESAD-UK 2 172549174 172549174 single base substitution A C intron_variant ESAD-UK 2 172549323 172549323 single base substitution G A exon_variant ESAD-UK 2 172549323 172549323 single base substitution G A missense_variant E49K 145G>A ESAD-UK 2 172550058 172550058 single base substitution A G downstream_gene_variant ESAD-UK 2 172550058 172550058 single base substitution A G intron_variant ESAD-UK 2 172550555 172550555 single base substitution T C downstream_gene_variant ESAD-UK 2 172550555 172550555 single base substitution T C intron_variant ESAD-UK 2 172550856 172550856 single base substitution A T downstream_gene_variant ESAD-UK 2 172550856 172550856 single base substitution A T intron_variant ESAD-UK 2 172551167 172551167 single base substitution C T downstream_gene_variant ESAD-UK 2 172551167 172551167 single base substitution C T intron_variant ESAD-UK 2 172551713 172551713 single base substitution G A downstream_gene_variant ESAD-UK 2 172551713 172551713 single base substitution G A intron_variant ESAD-UK 2 172552835 172552835 single base substitution G C downstream_gene_variant ESAD-UK 2 172552835 172552835 single base substitution G C intron_variant ESAD-UK 2 172555855 172555855 single base substitution T G intron_variant ESAD-UK 2 172556792 172556792 single base substitution G A intron_variant ESAD-UK 2 172560066 172560066 deletion of <=200bp T - intron_variant ESAD-UK 2 172560066 172560066 deletion of <=200bp T - upstream_gene_variant ESAD-UK 2 172561851 172561851 single base substitution A G intron_variant ESAD-UK 2 172561851 172561851 single base substitution A G upstream_gene_variant ESAD-UK 2 172563104 172563104 single base substitution T C intron_variant ESAD-UK 2 172563104 172563104 single base substitution T C upstream_gene_variant ESAD-UK 2 172563993 172563993 single base substitution A G intron_variant ESAD-UK 2 172563993 172563993 single base substitution A G upstream_gene_variant ESAD-UK 2 172566961 172566961 single base substitution A C intron_variant ESAD-UK 2 172566961 172566961 single base substitution A C upstream_gene_variant ESAD-UK 2 172567947 172567947 single base substitution G C intron_variant ESAD-UK 2 172567947 172567947 single base substitution G C upstream_gene_variant ESAD-UK 2 172568758 172568758 single base substitution T A intron_variant ESAD-UK 2 172568758 172568758 single base substitution T A upstream_gene_variant ESAD-UK 2 172570288 172570288 single base substitution G A downstream_gene_variant ESAD-UK 2 172570288 172570288 single base substitution G A intron_variant ESAD-UK 2 172570288 172570288 single base substitution G A upstream_gene_variant ESAD-UK 2 172570593 172570593 single base substitution T C downstream_gene_variant ESAD-UK 2 172570593 172570593 single base substitution T C intron_variant ESAD-UK 2 172570593 172570593 single base substitution T C upstream_gene_variant ESAD-UK 2 172571793 172571793 single base substitution G A downstream_gene_variant ESAD-UK 2 172571793 172571793 single base substitution G A intron_variant ESAD-UK 2 172571793 172571793 single base substitution G A upstream_gene_variant ESAD-UK 2 172573237 172573237 single base substitution G T downstream_gene_variant ESAD-UK 2 172573237 172573237 single base substitution G T intron_variant ESAD-UK 2 172576975 172576975 single base substitution G T intron_variant ESAD-UK 2 172581518 172581518 single base substitution C A intron_variant ESAD-UK 2 172581518 172581518 single base substitution C A upstream_gene_variant ESAD-UK 2 172581826 172581826 single base substitution T C intron_variant ESAD-UK 2 172581826 172581826 single base substitution T C upstream_gene_variant ESAD-UK 2 172583699 172583699 single base substitution G A downstream_gene_variant ESAD-UK 2 172583699 172583699 single base substitution G A intron_variant ESAD-UK 2 172585353 172585353 single base substitution C T downstream_gene_variant ESAD-UK 2 172585353 172585353 single base substitution C T exon_variant ESAD-UK 2 172585353 172585353 single base substitution C T missense_variant H436Y 1306C>T ESAD-UK 2 172585353 172585353 single base substitution C T missense_variant H454Y 1360C>T ESAD-UK 2 172585353 172585353 single base substitution C T missense_variant H456Y 1366C>T ESAD-UK 2 172585353 172585353 single base substitution C T missense_variant H462Y 1384C>T ESAD-UK 2 172586653 172586653 single base substitution G A downstream_gene_variant ESAD-UK 2 172586653 172586653 single base substitution G A intron_variant ESAD-UK 2 172587123 172587123 single base substitution C T downstream_gene_variant ESAD-UK 2 172587123 172587123 single base substitution C T intron_variant ESAD-UK 2 172589376 172589376 single base substitution A T intron_variant ESAD-UK 2 172590251 172590251 insertion of <=200bp - T intron_variant ESAD-UK 2 172594767 172594767 single base substitution G A intron_variant ESAD-UK 2 172597553 172597553 single base substitution A G intron_variant ESAD-UK 2 172598104 172598104 single base substitution T G intron_variant ESAD-UK 2 172599409 172599409 single base substitution G C intron_variant ESAD-UK 2 172600315 172600315 insertion of <=200bp - T intron_variant ESAD-UK 2 172600764 172600764 single base substitution G A intron_variant ESAD-UK 2 172602008 172602008 single base substitution T A intron_variant ESAD-UK 2 172602514 172602514 single base substitution T C intron_variant ESAD-UK 2 172603094 172603094 single base substitution G C intron_variant ESAD-UK 2 172605596 172605596 single base substitution A C downstream_gene_variant ESAD-UK 2 172608436 172608436 single base substitution A G downstream_gene_variant ESCA-CN 2 172563863 172563863 single base substitution C G exon_variant ESCA-CN 2 172563863 172563863 single base substitution C G intron_variant ESCA-CN 2 172563863 172563863 single base substitution C G missense_variant S104C 311C>G ESCA-CN 2 172563863 172563863 single base substitution C G missense_variant S116C 347C>G ESCA-CN 2 172563863 172563863 single base substitution C G missense_variant S98C 293C>G LGG-US 2 172586272 172586272 single base substitution T C downstream_gene_variant LGG-US 2 172586272 172586272 single base substitution T C exon_variant LGG-US 2 172586272 172586272 single base substitution T C missense_variant I456T 1367T>C LGG-US 2 172586272 172586272 single base substitution T C missense_variant I474T 1421T>C LGG-US 2 172586272 172586272 single base substitution T C missense_variant I476T 1427T>C LGG-US 2 172586272 172586272 single base substitution T C missense_variant I482T 1445T>C LICA-FR 2 172541904 172541904 single base substitution A C upstream_gene_variant LICA-FR 2 172557014 172557014 single base substitution A G intron_variant LINC-JP 2 172540438 172540438 single base substitution T A upstream_gene_variant LINC-JP 2 172545517 172545517 deletion of <=200bp A - intron_variant LINC-JP 2 172545517 172545517 deletion of <=200bp A - upstream_gene_variant LINC-JP 2 172546207 172546207 single base substitution A G intron_variant LINC-JP 2 172546207 172546207 single base substitution A G upstream_gene_variant LINC-JP 2 172546381 172546381 single base substitution A T intron_variant LINC-JP 2 172546381 172546381 single base substitution A T upstream_gene_variant LINC-JP 2 172549024 172549024 single base substitution A G intron_variant LINC-JP 2 172555036 172555036 single base substitution A G intron_variant LINC-JP 2 172569748 172569748 single base substitution G C downstream_gene_variant LINC-JP 2 172569748 172569748 single base substitution G C intron_variant LINC-JP 2 172569748 172569748 single base substitution G C upstream_gene_variant LINC-JP 2 172571940 172571940 single base substitution T C downstream_gene_variant LINC-JP 2 172571940 172571940 single base substitution T C exon_variant LINC-JP 2 172571940 172571940 single base substitution T C synonymous_variant A140A 420T>C LINC-JP 2 172571940 172571940 single base substitution T C synonymous_variant A158A 474T>C LINC-JP 2 172571940 172571940 single base substitution T C synonymous_variant A160A 480T>C LINC-JP 2 172571940 172571940 single base substitution T C synonymous_variant A166A 498T>C LINC-JP 2 172571940 172571940 single base substitution T C synonymous_variant A178A 534T>C LINC-JP 2 172582529 172582529 single base substitution T G downstream_gene_variant LINC-JP 2 172582529 172582529 single base substitution T G exon_variant LINC-JP 2 172582529 172582529 single base substitution T G synonymous_variant A210A 630T>G LINC-JP 2 172582529 172582529 single base substitution T G synonymous_variant A228A 684T>G LINC-JP 2 172582529 172582529 single base substitution T G synonymous_variant A230A 690T>G LINC-JP 2 172582529 172582529 single base substitution T G synonymous_variant A236A 708T>G LINC-JP 2 172582529 172582529 single base substitution T G upstream_gene_variant LINC-JP 2 172584645 172584645 single base substitution T A downstream_gene_variant LINC-JP 2 172584645 172584645 single base substitution T A intron_variant LINC-JP 2 172584699 172584699 single base substitution A T downstream_gene_variant LINC-JP 2 172584699 172584699 single base substitution A T intron_variant LINC-JP 2 172584816 172584816 single base substitution A T downstream_gene_variant LINC-JP 2 172584816 172584816 single base substitution A T missense_variant H356L 1067A>T LINC-JP 2 172584816 172584816 single base substitution A T missense_variant H374L 1121A>T LINC-JP 2 172584816 172584816 single base substitution A T missense_variant H376L 1127A>T LINC-JP 2 172584816 172584816 single base substitution A T missense_variant H382L 1145A>T LINC-JP 2 172584816 172584816 single base substitution A T splice_region_variant LINC-JP 2 172585345 172585352 deletion of <=200bp CATGCCGC - downstream_gene_variant LINC-JP 2 172585345 172585352 deletion of <=200bp CATGCCGC - exon_variant LINC-JP 2 172585345 172585352 deletion of <=200bp CATGCCGC - frameshift_variant ACR433 LINC-JP 2 172585345 172585352 deletion of <=200bp CATGCCGC - frameshift_variant ACR451 LINC-JP 2 172585345 172585352 deletion of <=200bp CATGCCGC - frameshift_variant ACR453 LINC-JP 2 172585345 172585352 deletion of <=200bp CATGCCGC - frameshift_variant ACR459 LINC-JP 2 172585944 172585944 single base substitution T C downstream_gene_variant LINC-JP 2 172585944 172585944 single base substitution T C intron_variant LINC-JP 2 172600500 172600500 single base substitution A G intron_variant LINC-JP 2 172600941 172600941 single base substitution C T intron_variant LINC-JP 2 172602395 172602395 single base substitution G A exon_variant LINC-JP 2 172602395 172602395 single base substitution G A synonymous_variant V561V 1683G>A LINC-JP 2 172602395 172602395 single base substitution G A synonymous_variant V579V 1737G>A LINC-JP 2 172602395 172602395 single base substitution G A synonymous_variant V581V 1743G>A LINC-JP 2 172602395 172602395 single base substitution G A synonymous_variant V587V 1761G>A LINC-JP 2 172603967 172603967 single base substitution A T intron_variant LINC-JP 2 172606806 172606806 single base substitution G A downstream_gene_variant LIRI-JP 2 172539356 172539356 single base substitution A G upstream_gene_variant LIRI-JP 2 172539763 172539763 single base substitution G A upstream_gene_variant LIRI-JP 2 172540697 172540697 single base substitution A G upstream_gene_variant LIRI-JP 2 172541525 172541525 single base substitution G A upstream_gene_variant LIRI-JP 2 172542453 172542453 single base substitution T C upstream_gene_variant LIRI-JP 2 172544112 172544112 single base substitution A T 5_prime_UTR_variant LIRI-JP 2 172544112 172544112 single base substitution A T exon_variant LIRI-JP 2 172544112 172544112 single base substitution A T upstream_gene_variant LIRI-JP 2 172544179 172544179 single base substitution A C intron_variant LIRI-JP 2 172544179 172544179 single base substitution A C upstream_gene_variant LIRI-JP 2 172544701 172544701 single base substitution T C intron_variant LIRI-JP 2 172544701 172544701 single base substitution T C upstream_gene_variant LIRI-JP 2 172546073 172546073 single base substitution A G intron_variant LIRI-JP 2 172546073 172546073 single base substitution A G upstream_gene_variant LIRI-JP 2 172548330 172548330 single base substitution A G intron_variant LIRI-JP 2 172548593 172548593 single base substitution A G intron_variant LIRI-JP 2 172548636 172548636 single base substitution T G intron_variant LIRI-JP 2 172549339 172549339 deletion of <=200bp A - exon_variant LIRI-JP 2 172549339 172549339 deletion of <=200bp A - frameshift_variant E54 LIRI-JP 2 172549340 172549340 single base substitution A G exon_variant LIRI-JP 2 172549340 172549340 single base substitution A G synonymous_variant E54E 162A>G LIRI-JP 2 172551494 172551494 single base substitution A G downstream_gene_variant LIRI-JP 2 172551494 172551494 single base substitution A G intron_variant LIRI-JP 2 172553858 172553858 single base substitution C T downstream_gene_variant LIRI-JP 2 172553858 172553858 single base substitution C T intron_variant LIRI-JP 2 172555680 172555680 single base substitution G A intron_variant LIRI-JP 2 172556491 172556491 single base substitution C T intron_variant LIRI-JP 2 172557738 172557738 single base substitution C T intron_variant LIRI-JP 2 172559060 172559060 single base substitution A G intron_variant LIRI-JP 2 172559060 172559060 single base substitution A G upstream_gene_variant LIRI-JP 2 172561716 172561716 single base substitution T A intron_variant LIRI-JP 2 172561716 172561716 single base substitution T A upstream_gene_variant LIRI-JP 2 172564015 172564015 single base substitution A G intron_variant LIRI-JP 2 172564015 172564015 single base substitution A G upstream_gene_variant LIRI-JP 2 172564053 172564053 single base substitution T A intron_variant LIRI-JP 2 172564053 172564053 single base substitution T A upstream_gene_variant LIRI-JP 2 172565580 172565580 single base substitution A G intron_variant LIRI-JP 2 172565580 172565580 single base substitution A G upstream_gene_variant LIRI-JP 2 172565762 172565770 deletion of <=200bp TTAAGTTTT - intron_variant LIRI-JP 2 172565762 172565770 deletion of <=200bp TTAAGTTTT - upstream_gene_variant LIRI-JP 2 172567281 172567281 single base substitution C T intron_variant LIRI-JP 2 172567281 172567281 single base substitution C T upstream_gene_variant LIRI-JP 2 172570793 172570793 single base substitution C G downstream_gene_variant LIRI-JP 2 172570793 172570793 single base substitution C G intron_variant LIRI-JP 2 172570793 172570793 single base substitution C G upstream_gene_variant LIRI-JP 2 172570850 172570850 single base substitution G T downstream_gene_variant LIRI-JP 2 172570850 172570850 single base substitution G T intron_variant LIRI-JP 2 172570850 172570850 single base substitution G T upstream_gene_variant LIRI-JP 2 172571229 172571229 single base substitution C G downstream_gene_variant LIRI-JP 2 172571229 172571229 single base substitution C G intron_variant LIRI-JP 2 172571229 172571229 single base substitution C G upstream_gene_variant LIRI-JP 2 172571879 172571879 single base substitution T C downstream_gene_variant LIRI-JP 2 172571879 172571879 single base substitution T C exon_variant LIRI-JP 2 172571879 172571879 single base substitution T C missense_variant V120A 359T>C LIRI-JP 2 172571879 172571879 single base substitution T C missense_variant V138A 413T>C LIRI-JP 2 172571879 172571879 single base substitution T C missense_variant V140A 419T>C LIRI-JP 2 172571879 172571879 single base substitution T C missense_variant V146A 437T>C LIRI-JP 2 172571879 172571879 single base substitution T C missense_variant V158A 473T>C LIRI-JP 2 172571879 172571879 single base substitution T C upstream_gene_variant LIRI-JP 2 172571973 172571973 single base substitution A G downstream_gene_variant LIRI-JP 2 172571973 172571973 single base substitution A G intron_variant LIRI-JP 2 172574419 172574419 single base substitution G T downstream_gene_variant LIRI-JP 2 172574419 172574419 single base substitution G T intron_variant LIRI-JP 2 172575882 172575882 single base substitution A G downstream_gene_variant LIRI-JP 2 172575882 172575882 single base substitution A G intron_variant LIRI-JP 2 172581624 172581624 single base substitution T G intron_variant LIRI-JP 2 172581624 172581624 single base substitution T G upstream_gene_variant LIRI-JP 2 172582350 172582357 deletion of <=200bp CATTGATC - downstream_gene_variant LIRI-JP 2 172582350 172582357 deletion of <=200bp CATTGATC - intron_variant LIRI-JP 2 172582350 172582357 deletion of <=200bp CATTGATC - upstream_gene_variant LIRI-JP 2 172589530 172589530 single base substitution T C intron_variant LIRI-JP 2 172590320 172590320 single base substitution A G intron_variant LIRI-JP 2 172595035 172595035 single base substitution G T intron_variant LIRI-JP 2 172598636 172598636 single base substitution A G intron_variant LIRI-JP 2 172599546 172599546 single base substitution A G intron_variant LIRI-JP 2 172602574 172602574 single base substitution T A intron_variant LIRI-JP 2 172605217 172605217 deletion of <=200bp T - downstream_gene_variant LIRI-JP 2 172606463 172606463 single base substitution A G downstream_gene_variant LIRI-JP 2 172606867 172606867 single base substitution T G downstream_gene_variant LIRI-JP 2 172606946 172606946 single base substitution A C downstream_gene_variant LIRI-JP 2 172607239 172607239 single base substitution A G downstream_gene_variant LIRI-JP 2 172607874 172607874 single base substitution G A downstream_gene_variant LIRI-JP 2 172608644 172608644 single base substitution C T downstream_gene_variant LIRI-JP 2 172609601 172609601 single base substitution C T downstream_gene_variant LUSC-KR 2 172540509 172540509 single base substitution C T upstream_gene_variant LUSC-KR 2 172571693 172571693 single base substitution C G downstream_gene_variant LUSC-KR 2 172571693 172571693 single base substitution C G intron_variant LUSC-KR 2 172571693 172571693 single base substitution C G upstream_gene_variant LUSC-KR 2 172576677 172576677 single base substitution C G downstream_gene_variant LUSC-KR 2 172576677 172576677 single base substitution C G intron_variant LUSC-KR 2 172576770 172576770 single base substitution G T downstream_gene_variant LUSC-KR 2 172576770 172576770 single base substitution G T intron_variant LUSC-KR 2 172577192 172577192 single base substitution G T intron_variant LUSC-KR 2 172579237 172579237 single base substitution G A intron_variant LUSC-KR 2 172579237 172579237 single base substitution G A upstream_gene_variant LUSC-KR 2 172579537 172579537 single base substitution A C intron_variant LUSC-KR 2 172579537 172579537 single base substitution A C upstream_gene_variant LUSC-KR 2 172582112 172582112 single base substitution T G intron_variant LUSC-KR 2 172582112 172582112 single base substitution T G upstream_gene_variant LUSC-KR 2 172585350 172585350 single base substitution C A downstream_gene_variant LUSC-KR 2 172585350 172585350 single base substitution C A exon_variant LUSC-KR 2 172585350 172585350 single base substitution C A missense_variant R435S 1303C>A LUSC-KR 2 172585350 172585350 single base substitution C A missense_variant R453S 1357C>A LUSC-KR 2 172585350 172585350 single base substitution C A missense_variant R455S 1363C>A LUSC-KR 2 172585350 172585350 single base substitution C A missense_variant R461S 1381C>A LUSC-KR 2 172596341 172596341 single base substitution G A intron_variant LUSC-KR 2 172600773 172600773 single base substitution C T intron_variant LUSC-KR 2 172605211 172605211 single base substitution G C downstream_gene_variant LUSC-US 2 172582502 172582502 single base substitution C G downstream_gene_variant LUSC-US 2 172582502 172582502 single base substitution C G exon_variant LUSC-US 2 172582502 172582502 single base substitution C G missense_variant D201E 603C>G LUSC-US 2 172582502 172582502 single base substitution C G missense_variant D219E 657C>G LUSC-US 2 172582502 172582502 single base substitution C G missense_variant D221E 663C>G LUSC-US 2 172582502 172582502 single base substitution C G missense_variant D227E 681C>G LUSC-US 2 172582502 172582502 single base substitution C G upstream_gene_variant MALY-DE 2 172557732 172557732 single base substitution C T intron_variant MALY-DE 2 172559728 172559728 single base substitution A C intron_variant MALY-DE 2 172559728 172559728 single base substitution A C upstream_gene_variant MALY-DE 2 172563564 172563564 single base substitution G C exon_variant MALY-DE 2 172563564 172563564 single base substitution G C intron_variant MALY-DE 2 172564272 172564272 single base substitution A G intron_variant MALY-DE 2 172564272 172564272 single base substitution A G upstream_gene_variant MALY-DE 2 172565911 172565911 single base substitution T C intron_variant MALY-DE 2 172565911 172565911 single base substitution T C upstream_gene_variant MALY-DE 2 172566862 172566862 single base substitution T G intron_variant MALY-DE 2 172566862 172566862 single base substitution T G upstream_gene_variant MALY-DE 2 172568353 172568353 insertion of <=200bp - A intron_variant MALY-DE 2 172568353 172568353 insertion of <=200bp - A upstream_gene_variant MALY-DE 2 172568640 172568640 single base substitution A G intron_variant MALY-DE 2 172568640 172568640 single base substitution A G upstream_gene_variant MALY-DE 2 172571400 172571400 single base substitution C T downstream_gene_variant MALY-DE 2 172571400 172571400 single base substitution C T intron_variant MALY-DE 2 172571400 172571400 single base substitution C T upstream_gene_variant MALY-DE 2 172575285 172575285 single base substitution A T downstream_gene_variant MALY-DE 2 172575285 172575285 single base substitution A T intron_variant MALY-DE 2 172575664 172575664 single base substitution G T downstream_gene_variant MALY-DE 2 172575664 172575664 single base substitution G T intron_variant MALY-DE 2 172584384 172584384 single base substitution T C downstream_gene_variant MALY-DE 2 172584384 172584384 single base substitution T C exon_variant MALY-DE 2 172584384 172584384 single base substitution T C synonymous_variant G324G 972T>C MALY-DE 2 172584384 172584384 single base substitution T C synonymous_variant G342G 1026T>C MALY-DE 2 172584384 172584384 single base substitution T C synonymous_variant G344G 1032T>C MALY-DE 2 172584384 172584384 single base substitution T C synonymous_variant G350G 1050T>C MALY-DE 2 172589722 172589722 single base substitution A C intron_variant MALY-DE 2 172590510 172590510 single base substitution C A intron_variant MALY-DE 2 172590519 172590519 single base substitution A G intron_variant MALY-DE 2 172598331 172598331 single base substitution C T intron_variant MALY-DE 2 172600616 172600616 single base substitution T C exon_variant MALY-DE 2 172600616 172600616 single base substitution T C missense_variant W506R 1516T>C MALY-DE 2 172600616 172600616 single base substitution T C missense_variant W524R 1570T>C MALY-DE 2 172600616 172600616 single base substitution T C missense_variant W526R 1576T>C MALY-DE 2 172600616 172600616 single base substitution T C missense_variant W532R 1594T>C MELA-AU 2 172539045 172539045 single base substitution C T upstream_gene_variant MELA-AU 2 172539138 172539138 single base substitution C G upstream_gene_variant MELA-AU 2 172539148 172539148 single base substitution C T upstream_gene_variant MELA-AU 2 172539243 172539243 single base substitution C T upstream_gene_variant MELA-AU 2 172539268 172539268 single base substitution C T upstream_gene_variant MELA-AU 2 172539292 172539292 single base substitution G A upstream_gene_variant MELA-AU 2 172539346 172539346 single base substitution A C upstream_gene_variant MELA-AU 2 172539474 172539474 single base substitution G A upstream_gene_variant MELA-AU 2 172539742 172539742 single base substitution C T upstream_gene_variant MELA-AU 2 172539828 172539828 single base substitution G A upstream_gene_variant MELA-AU 2 172539836 172539836 single base substitution A G upstream_gene_variant MELA-AU 2 172539956 172539956 single base substitution A T upstream_gene_variant MELA-AU 2 172540047 172540047 single base substitution G A upstream_gene_variant MELA-AU 2 172540236 172540236 single base substitution C T upstream_gene_variant MELA-AU 2 172540237 172540237 single base substitution C T upstream_gene_variant MELA-AU 2 172540434 172540434 single base substitution G A upstream_gene_variant MELA-AU 2 172540661 172540661 single base substitution A C upstream_gene_variant MELA-AU 2 172540805 172540805 single base substitution G A upstream_gene_variant MELA-AU 2 172541349 172541349 single base substitution A G upstream_gene_variant MELA-AU 2 172541481 172541481 single base substitution C T upstream_gene_variant MELA-AU 2 172541706 172541706 single base substitution G A upstream_gene_variant MELA-AU 2 172541827 172541827 single base substitution C T upstream_gene_variant MELA-AU 2 172541828 172541828 single base substitution C T upstream_gene_variant MELA-AU 2 172542147 172542147 single base substitution C T upstream_gene_variant MELA-AU 2 172542272 172542272 single base substitution G A upstream_gene_variant MELA-AU 2 172542480 172542480 single base substitution C T upstream_gene_variant MELA-AU 2 172542770 172542771 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 172542793 172542793 single base substitution A T upstream_gene_variant MELA-AU 2 172543956 172543956 single base substitution C T 5_prime_UTR_variant MELA-AU 2 172543956 172543956 single base substitution C T upstream_gene_variant MELA-AU 2 172544650 172544650 single base substitution C T 5_prime_UTR_variant MELA-AU 2 172544650 172544650 single base substitution C T intron_variant MELA-AU 2 172544650 172544650 single base substitution C T upstream_gene_variant MELA-AU 2 172544743 172544743 single base substitution C T intron_variant MELA-AU 2 172544743 172544743 single base substitution C T upstream_gene_variant MELA-AU 2 172545348 172545348 single base substitution G T intron_variant MELA-AU 2 172545348 172545348 single base substitution G T upstream_gene_variant MELA-AU 2 172546706 172546706 single base substitution A G exon_variant MELA-AU 2 172546706 172546706 single base substitution A G missense_variant K14R 41A>G MELA-AU 2 172547049 172547049 single base substitution C T intron_variant MELA-AU 2 172547150 172547150 single base substitution T C intron_variant MELA-AU 2 172547385 172547385 single base substitution C T intron_variant MELA-AU 2 172548220 172548220 single base substitution C T intron_variant MELA-AU 2 172548238 172548238 single base substitution C T intron_variant MELA-AU 2 172549423 172549423 single base substitution C T exon_variant MELA-AU 2 172549423 172549423 single base substitution C T intron_variant MELA-AU 2 172550160 172550166 deletion of <=200bp AATGCTC - downstream_gene_variant MELA-AU 2 172550160 172550166 deletion of <=200bp AATGCTC - intron_variant MELA-AU 2 172550538 172550538 single base substitution C A downstream_gene_variant MELA-AU 2 172550538 172550538 single base substitution C A intron_variant MELA-AU 2 172550668 172550668 single base substitution T C downstream_gene_variant MELA-AU 2 172550668 172550668 single base substitution T C intron_variant MELA-AU 2 172550972 172550972 single base substitution A T downstream_gene_variant MELA-AU 2 172550972 172550972 single base substitution A T intron_variant MELA-AU 2 172551434 172551434 single base substitution G A downstream_gene_variant MELA-AU 2 172551434 172551434 single base substitution G A intron_variant MELA-AU 2 172552509 172552509 single base substitution C T downstream_gene_variant MELA-AU 2 172552509 172552509 single base substitution C T intron_variant MELA-AU 2 172552786 172552786 single base substitution A G downstream_gene_variant MELA-AU 2 172552786 172552786 single base substitution A G intron_variant MELA-AU 2 172554145 172554146 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 172554145 172554146 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 172554318 172554318 single base substitution C T downstream_gene_variant MELA-AU 2 172554318 172554318 single base substitution C T intron_variant MELA-AU 2 172557021 172557021 single base substitution T C intron_variant MELA-AU 2 172557139 172557139 insertion of <=200bp - T intron_variant MELA-AU 2 172557686 172557686 single base substitution C T intron_variant MELA-AU 2 172558731 172558731 single base substitution C T intron_variant MELA-AU 2 172558731 172558731 single base substitution C T upstream_gene_variant MELA-AU 2 172558754 172558754 single base substitution C T intron_variant MELA-AU 2 172558754 172558754 single base substitution C T upstream_gene_variant MELA-AU 2 172559720 172559720 single base substitution T C intron_variant MELA-AU 2 172559720 172559720 single base substitution T C upstream_gene_variant MELA-AU 2 172559855 172559855 single base substitution C T intron_variant MELA-AU 2 172559855 172559855 single base substitution C T upstream_gene_variant MELA-AU 2 172560134 172560134 single base substitution A G intron_variant MELA-AU 2 172560134 172560134 single base substitution A G upstream_gene_variant MELA-AU 2 172560205 172560205 single base substitution G A intron_variant MELA-AU 2 172560205 172560205 single base substitution G A upstream_gene_variant MELA-AU 2 172560848 172560848 single base substitution T G intron_variant MELA-AU 2 172560848 172560848 single base substitution T G upstream_gene_variant MELA-AU 2 172561016 172561016 single base substitution C T intron_variant MELA-AU 2 172561016 172561016 single base substitution C T upstream_gene_variant MELA-AU 2 172561439 172561439 single base substitution C T intron_variant MELA-AU 2 172561439 172561439 single base substitution C T upstream_gene_variant MELA-AU 2 172562146 172562146 single base substitution C T intron_variant MELA-AU 2 172562146 172562146 single base substitution C T upstream_gene_variant MELA-AU 2 172562594 172562594 single base substitution A G intron_variant MELA-AU 2 172562594 172562594 single base substitution A G upstream_gene_variant MELA-AU 2 172562672 172562672 single base substitution C T intron_variant MELA-AU 2 172562672 172562672 single base substitution C T upstream_gene_variant MELA-AU 2 172563873 172563873 single base substitution C T exon_variant MELA-AU 2 172563873 172563873 single base substitution C T intron_variant MELA-AU 2 172563873 172563873 single base substitution C T synonymous_variant G101G 303C>T MELA-AU 2 172563873 172563873 single base substitution C T synonymous_variant G107G 321C>T MELA-AU 2 172563873 172563873 single base substitution C T synonymous_variant G119G 357C>T MELA-AU 2 172564178 172564178 single base substitution C T intron_variant MELA-AU 2 172564178 172564178 single base substitution C T upstream_gene_variant MELA-AU 2 172564292 172564292 single base substitution A G intron_variant MELA-AU 2 172564292 172564292 single base substitution A G upstream_gene_variant MELA-AU 2 172564467 172564467 single base substitution G A intron_variant MELA-AU 2 172564467 172564467 single base substitution G A upstream_gene_variant MELA-AU 2 172564912 172564912 single base substitution T G intron_variant MELA-AU 2 172564912 172564912 single base substitution T G upstream_gene_variant MELA-AU 2 172564970 172564970 single base substitution C T intron_variant MELA-AU 2 172564970 172564970 single base substitution C T upstream_gene_variant MELA-AU 2 172565181 172565181 single base substitution T G intron_variant MELA-AU 2 172565181 172565181 single base substitution T G upstream_gene_variant MELA-AU 2 172565428 172565428 single base substitution C T intron_variant MELA-AU 2 172565428 172565428 single base substitution C T upstream_gene_variant MELA-AU 2 172565563 172565563 single base substitution C T intron_variant MELA-AU 2 172565563 172565563 single base substitution C T upstream_gene_variant MELA-AU 2 172565620 172565620 single base substitution A T intron_variant MELA-AU 2 172565620 172565620 single base substitution A T upstream_gene_variant MELA-AU 2 172566118 172566118 single base substitution T C intron_variant MELA-AU 2 172566118 172566118 single base substitution T C upstream_gene_variant MELA-AU 2 172566188 172566188 single base substitution C T intron_variant MELA-AU 2 172566188 172566188 single base substitution C T upstream_gene_variant MELA-AU 2 172566559 172566560 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 172566559 172566560 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 172567311 172567311 single base substitution C T intron_variant MELA-AU 2 172567311 172567311 single base substitution C T upstream_gene_variant MELA-AU 2 172567336 172567336 single base substitution C T intron_variant MELA-AU 2 172567336 172567336 single base substitution C T upstream_gene_variant MELA-AU 2 172567802 172567802 single base substitution C T intron_variant MELA-AU 2 172567802 172567802 single base substitution C T upstream_gene_variant MELA-AU 2 172568628 172568628 single base substitution C T intron_variant MELA-AU 2 172568628 172568628 single base substitution C T upstream_gene_variant MELA-AU 2 172568786 172568786 single base substitution G A intron_variant MELA-AU 2 172568786 172568786 single base substitution G A upstream_gene_variant MELA-AU 2 172572268 172572268 single base substitution G A downstream_gene_variant MELA-AU 2 172572268 172572268 single base substitution G A intron_variant MELA-AU 2 172572889 172572889 single base substitution T A downstream_gene_variant MELA-AU 2 172572889 172572889 single base substitution T A intron_variant MELA-AU 2 172572974 172572974 single base substitution C T downstream_gene_variant MELA-AU 2 172572974 172572974 single base substitution C T intron_variant MELA-AU 2 172573090 172573090 single base substitution C T downstream_gene_variant MELA-AU 2 172573090 172573090 single base substitution C T intron_variant MELA-AU 2 172573101 172573101 single base substitution C T downstream_gene_variant MELA-AU 2 172573101 172573101 single base substitution C T intron_variant MELA-AU 2 172574537 172574537 single base substitution G A downstream_gene_variant MELA-AU 2 172574537 172574537 single base substitution G A intron_variant MELA-AU 2 172574775 172574775 single base substitution T C downstream_gene_variant MELA-AU 2 172574775 172574775 single base substitution T C intron_variant MELA-AU 2 172574958 172574958 single base substitution C T downstream_gene_variant MELA-AU 2 172574958 172574958 single base substitution C T intron_variant MELA-AU 2 172575718 172575718 single base substitution C T downstream_gene_variant MELA-AU 2 172575718 172575718 single base substitution C T intron_variant MELA-AU 2 172575723 172575723 single base substitution A C downstream_gene_variant MELA-AU 2 172575723 172575723 single base substitution A C intron_variant MELA-AU 2 172575775 172575775 single base substitution G A downstream_gene_variant MELA-AU 2 172575775 172575775 single base substitution G A intron_variant MELA-AU 2 172575819 172575819 single base substitution C T downstream_gene_variant MELA-AU 2 172575819 172575819 single base substitution C T intron_variant MELA-AU 2 172577794 172577794 single base substitution C T intron_variant MELA-AU 2 172578046 172578046 single base substitution C T intron_variant MELA-AU 2 172578335 172578335 single base substitution C T intron_variant MELA-AU 2 172578335 172578335 single base substitution C T upstream_gene_variant MELA-AU 2 172578701 172578701 single base substitution C T intron_variant MELA-AU 2 172578701 172578701 single base substitution C T upstream_gene_variant MELA-AU 2 172580337 172580337 single base substitution C T intron_variant MELA-AU 2 172580337 172580337 single base substitution C T upstream_gene_variant MELA-AU 2 172581980 172581980 single base substitution C T intron_variant MELA-AU 2 172581980 172581980 single base substitution C T upstream_gene_variant MELA-AU 2 172582112 172582112 single base substitution T G intron_variant MELA-AU 2 172582112 172582112 single base substitution T G upstream_gene_variant MELA-AU 2 172582157 172582158 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 2 172582157 172582158 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 2 172582157 172582158 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P155F 463CC>TT MELA-AU 2 172582157 172582158 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P173F 517CC>TT MELA-AU 2 172582157 172582158 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P175F 523CC>TT MELA-AU 2 172582157 172582158 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P181F 541CC>TT MELA-AU 2 172582157 172582158 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P193F 577CC>TT MELA-AU 2 172582157 172582158 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 172583494 172583494 single base substitution T C downstream_gene_variant MELA-AU 2 172583494 172583494 single base substitution T C intron_variant MELA-AU 2 172584468 172584468 single base substitution T A downstream_gene_variant MELA-AU 2 172584468 172584468 single base substitution T A exon_variant MELA-AU 2 172584468 172584468 single base substitution T A synonymous_variant A352A 1056T>A MELA-AU 2 172584468 172584468 single base substitution T A synonymous_variant A370A 1110T>A MELA-AU 2 172584468 172584468 single base substitution T A synonymous_variant A372A 1116T>A MELA-AU 2 172584468 172584468 single base substitution T A synonymous_variant A378A 1134T>A MELA-AU 2 172584575 172584575 single base substitution C T downstream_gene_variant MELA-AU 2 172584575 172584575 single base substitution C T intron_variant MELA-AU 2 172585319 172585319 single base substitution G A downstream_gene_variant MELA-AU 2 172585319 172585319 single base substitution G A exon_variant MELA-AU 2 172585319 172585319 single base substitution G A synonymous_variant G424G 1272G>A MELA-AU 2 172585319 172585319 single base substitution G A synonymous_variant G442G 1326G>A MELA-AU 2 172585319 172585319 single base substitution G A synonymous_variant G444G 1332G>A MELA-AU 2 172585319 172585319 single base substitution G A synonymous_variant G450G 1350G>A MELA-AU 2 172585927 172585927 single base substitution C T downstream_gene_variant MELA-AU 2 172585927 172585927 single base substitution C T intron_variant MELA-AU 2 172586593 172586593 single base substitution C T downstream_gene_variant MELA-AU 2 172586593 172586593 single base substitution C T intron_variant MELA-AU 2 172586919 172586919 single base substitution C T downstream_gene_variant MELA-AU 2 172586919 172586919 single base substitution C T intron_variant MELA-AU 2 172587242 172587242 single base substitution C T downstream_gene_variant MELA-AU 2 172587242 172587242 single base substitution C T intron_variant MELA-AU 2 172587320 172587320 single base substitution C T downstream_gene_variant MELA-AU 2 172587320 172587320 single base substitution C T intron_variant MELA-AU 2 172588515 172588515 single base substitution C T intron_variant MELA-AU 2 172588516 172588516 single base substitution C T intron_variant MELA-AU 2 172589008 172589008 single base substitution C T intron_variant MELA-AU 2 172589101 172589101 single base substitution A G intron_variant MELA-AU 2 172589138 172589138 single base substitution C A intron_variant MELA-AU 2 172589233 172589233 single base substitution C T intron_variant MELA-AU 2 172589395 172589395 single base substitution C T intron_variant MELA-AU 2 172589776 172589776 single base substitution C T intron_variant MELA-AU 2 172589816 172589816 single base substitution T G intron_variant MELA-AU 2 172590162 172590162 single base substitution C T intron_variant MELA-AU 2 172590219 172590219 single base substitution C T intron_variant MELA-AU 2 172591077 172591077 single base substitution C T intron_variant MELA-AU 2 172591450 172591450 single base substitution C T intron_variant MELA-AU 2 172591659 172591659 single base substitution C T intron_variant MELA-AU 2 172593073 172593073 single base substitution G A intron_variant MELA-AU 2 172593083 172593083 single base substitution C T intron_variant MELA-AU 2 172593198 172593198 single base substitution G A intron_variant MELA-AU 2 172593376 172593376 single base substitution C T intron_variant MELA-AU 2 172593676 172593676 single base substitution T C intron_variant MELA-AU 2 172595479 172595479 single base substitution T C intron_variant MELA-AU 2 172596108 172596108 single base substitution C T intron_variant MELA-AU 2 172598199 172598199 single base substitution C T intron_variant MELA-AU 2 172598412 172598412 single base substitution T C intron_variant MELA-AU 2 172598474 172598474 single base substitution C T intron_variant MELA-AU 2 172598907 172598907 single base substitution C T intron_variant MELA-AU 2 172599103 172599103 single base substitution C T intron_variant MELA-AU 2 172599569 172599569 single base substitution T G intron_variant MELA-AU 2 172600781 172600781 single base substitution C T intron_variant MELA-AU 2 172600786 172600786 single base substitution G A intron_variant MELA-AU 2 172600846 172600846 single base substitution C T intron_variant MELA-AU 2 172600918 172600918 single base substitution C T intron_variant MELA-AU 2 172601161 172601161 single base substitution G A intron_variant MELA-AU 2 172602041 172602041 single base substitution C T intron_variant MELA-AU 2 172602335 172602335 single base substitution G T exon_variant MELA-AU 2 172602335 172602335 single base substitution G T synonymous_variant V541V 1623G>T MELA-AU 2 172602335 172602335 single base substitution G T synonymous_variant V559V 1677G>T MELA-AU 2 172602335 172602335 single base substitution G T synonymous_variant V561V 1683G>T MELA-AU 2 172602335 172602335 single base substitution G T synonymous_variant V567V 1701G>T MELA-AU 2 172602516 172602516 single base substitution G A intron_variant MELA-AU 2 172602517 172602517 single base substitution G A intron_variant MELA-AU 2 172602983 172602983 single base substitution C T intron_variant MELA-AU 2 172603483 172603483 single base substitution C T intron_variant MELA-AU 2 172603944 172603944 single base substitution T C intron_variant MELA-AU 2 172603996 172603996 single base substitution C T intron_variant MELA-AU 2 172604496 172604496 single base substitution G A 3_prime_UTR_variant MELA-AU 2 172604496 172604496 single base substitution G A exon_variant MELA-AU 2 172605897 172605897 single base substitution T A downstream_gene_variant MELA-AU 2 172606558 172606558 single base substitution C T downstream_gene_variant MELA-AU 2 172606717 172606717 single base substitution C T downstream_gene_variant MELA-AU 2 172606994 172606994 single base substitution C T downstream_gene_variant MELA-AU 2 172607178 172607178 single base substitution A T downstream_gene_variant MELA-AU 2 172607406 172607406 single base substitution C T downstream_gene_variant MELA-AU 2 172607455 172607455 single base substitution C T downstream_gene_variant MELA-AU 2 172607501 172607501 single base substitution A T downstream_gene_variant MELA-AU 2 172607553 172607554 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 172607819 172607819 single base substitution C T downstream_gene_variant ORCA-IN 2 172554368 172554368 single base substitution A C downstream_gene_variant ORCA-IN 2 172554368 172554368 single base substitution A C intron_variant ORCA-IN 2 172566668 172566668 single base substitution C G intron_variant ORCA-IN 2 172566668 172566668 single base substitution C G upstream_gene_variant ORCA-IN 2 172580326 172580326 single base substitution C G intron_variant ORCA-IN 2 172580326 172580326 single base substitution C G upstream_gene_variant OV-AU 2 172543994 172543994 single base substitution A G 5_prime_UTR_variant OV-AU 2 172543994 172543994 single base substitution A G exon_variant OV-AU 2 172543994 172543994 single base substitution A G upstream_gene_variant OV-AU 2 172550908 172550908 single base substitution C T downstream_gene_variant OV-AU 2 172550908 172550908 single base substitution C T intron_variant OV-AU 2 172551928 172551928 single base substitution T C downstream_gene_variant OV-AU 2 172551928 172551928 single base substitution T C intron_variant OV-AU 2 172554744 172554744 single base substitution A G intron_variant OV-AU 2 172555021 172555021 single base substitution G C intron_variant OV-AU 2 172556530 172556530 single base substitution A T intron_variant OV-AU 2 172559529 172559529 single base substitution C G intron_variant OV-AU 2 172559529 172559529 single base substitution C G upstream_gene_variant OV-AU 2 172564455 172564455 single base substitution G A intron_variant OV-AU 2 172564455 172564455 single base substitution G A upstream_gene_variant OV-AU 2 172573178 172573178 single base substitution G T downstream_gene_variant OV-AU 2 172573178 172573178 single base substitution G T intron_variant OV-AU 2 172573179 172573179 single base substitution A T downstream_gene_variant OV-AU 2 172573179 172573179 single base substitution A T intron_variant OV-AU 2 172574118 172574118 single base substitution A G downstream_gene_variant OV-AU 2 172574118 172574118 single base substitution A G intron_variant OV-AU 2 172574314 172574314 single base substitution T C downstream_gene_variant OV-AU 2 172574314 172574314 single base substitution T C intron_variant OV-AU 2 172579548 172579548 single base substitution T G intron_variant OV-AU 2 172579548 172579548 single base substitution T G upstream_gene_variant OV-AU 2 172582355 172582355 single base substitution A T downstream_gene_variant OV-AU 2 172582355 172582355 single base substitution A T intron_variant OV-AU 2 172582355 172582355 single base substitution A T upstream_gene_variant OV-AU 2 172582924 172582924 single base substitution G T downstream_gene_variant OV-AU 2 172582924 172582924 single base substitution G T intron_variant OV-AU 2 172582924 172582924 single base substitution G T upstream_gene_variant OV-AU 2 172584491 172584491 single base substitution G T downstream_gene_variant OV-AU 2 172584491 172584491 single base substitution G T intron_variant OV-AU 2 172585823 172585823 single base substitution T C downstream_gene_variant OV-AU 2 172585823 172585823 single base substitution T C intron_variant OV-AU 2 172585929 172585929 single base substitution C G downstream_gene_variant OV-AU 2 172585929 172585929 single base substitution C G intron_variant OV-AU 2 172586053 172586053 single base substitution G A downstream_gene_variant OV-AU 2 172586053 172586053 single base substitution G A intron_variant OV-AU 2 172588290 172588290 single base substitution C G downstream_gene_variant OV-AU 2 172588290 172588290 single base substitution C G intron_variant OV-AU 2 172591764 172591764 single base substitution C T intron_variant OV-AU 2 172602288 172602288 single base substitution G C intron_variant OV-AU 2 172605420 172605420 single base substitution A G downstream_gene_variant OV-US 2 172569285 172569285 single base substitution A T exon_variant OV-US 2 172569285 172569285 single base substitution A T intron_variant OV-US 2 172569285 172569285 single base substitution A T missense_variant H109L 326A>T OV-US 2 172569285 172569285 single base substitution A T missense_variant H115L 344A>T OV-US 2 172569285 172569285 single base substitution A T missense_variant H127L 380A>T OV-US 2 172569285 172569285 single base substitution A T upstream_gene_variant PACA-AU 2 172541622 172541622 single base substitution C T upstream_gene_variant PACA-AU 2 172550924 172550950 deletion of <=200bp TTGGGAGGCCGAGGTGGGCGGATCACC - downstream_gene_variant PACA-AU 2 172550924 172550950 deletion of <=200bp TTGGGAGGCCGAGGTGGGCGGATCACC - intron_variant PACA-AU 2 172552780 172552780 single base substitution C T downstream_gene_variant PACA-AU 2 172552780 172552780 single base substitution C T intron_variant PACA-AU 2 172553227 172553227 single base substitution T G downstream_gene_variant PACA-AU 2 172553227 172553227 single base substitution T G intron_variant PACA-AU 2 172560420 172560420 single base substitution C T intron_variant PACA-AU 2 172560420 172560420 single base substitution C T upstream_gene_variant PACA-AU 2 172561846 172561846 single base substitution G T intron_variant PACA-AU 2 172561846 172561846 single base substitution G T upstream_gene_variant PACA-AU 2 172561847 172561847 single base substitution G T intron_variant PACA-AU 2 172561847 172561847 single base substitution G T upstream_gene_variant PACA-AU 2 172564888 172564888 single base substitution C T intron_variant PACA-AU 2 172564888 172564888 single base substitution C T upstream_gene_variant PACA-AU 2 172570973 172570973 single base substitution C G downstream_gene_variant PACA-AU 2 172570973 172570973 single base substitution C G intron_variant PACA-AU 2 172570973 172570973 single base substitution C G upstream_gene_variant PACA-AU 2 172571948 172571948 single base substitution A G downstream_gene_variant PACA-AU 2 172571948 172571948 single base substitution A G exon_variant PACA-AU 2 172571948 172571948 single base substitution A G missense_variant K143R 428A>G PACA-AU 2 172571948 172571948 single base substitution A G missense_variant K161R 482A>G PACA-AU 2 172571948 172571948 single base substitution A G missense_variant K163R 488A>G PACA-AU 2 172571948 172571948 single base substitution A G missense_variant K169R 506A>G PACA-AU 2 172571948 172571948 single base substitution A G missense_variant K181R 542A>G PACA-AU 2 172575686 172575686 single base substitution G T downstream_gene_variant PACA-AU 2 172575686 172575686 single base substitution G T intron_variant PACA-AU 2 172580460 172580460 single base substitution T C intron_variant PACA-AU 2 172580460 172580460 single base substitution T C upstream_gene_variant PACA-AU 2 172580518 172580518 single base substitution G C intron_variant PACA-AU 2 172580518 172580518 single base substitution G C upstream_gene_variant PACA-AU 2 172586711 172586711 single base substitution T A downstream_gene_variant PACA-AU 2 172586711 172586711 single base substitution T A intron_variant PACA-AU 2 172587038 172587038 single base substitution C G downstream_gene_variant PACA-AU 2 172587038 172587038 single base substitution C G intron_variant PACA-AU 2 172593327 172593327 single base substitution T A intron_variant PACA-AU 2 172594911 172594911 single base substitution G C intron_variant PACA-AU 2 172604484 172604484 single base substitution G T 3_prime_UTR_variant PACA-AU 2 172604484 172604484 single base substitution G T exon_variant PACA-AU 2 172606651 172606651 single base substitution A C downstream_gene_variant PACA-CA 2 172541529 172541529 single base substitution C T upstream_gene_variant PACA-CA 2 172549958 172549958 insertion of <=200bp - A downstream_gene_variant PACA-CA 2 172549958 172549958 insertion of <=200bp - A intron_variant PACA-CA 2 172550442 172550442 insertion of <=200bp - T downstream_gene_variant PACA-CA 2 172550442 172550442 insertion of <=200bp - T intron_variant PACA-CA 2 172550892 172550892 single base substitution G C downstream_gene_variant PACA-CA 2 172550892 172550892 single base substitution G C intron_variant PACA-CA 2 172554416 172554416 single base substitution C T downstream_gene_variant PACA-CA 2 172554416 172554416 single base substitution C T intron_variant PACA-CA 2 172554699 172554699 single base substitution A T intron_variant PACA-CA 2 172561832 172561832 single base substitution G A intron_variant PACA-CA 2 172561832 172561832 single base substitution G A upstream_gene_variant PACA-CA 2 172569661 172569666 deletion of <=200bp ATATGA - downstream_gene_variant PACA-CA 2 172569661 172569666 deletion of <=200bp ATATGA - intron_variant PACA-CA 2 172569661 172569666 deletion of <=200bp ATATGA - upstream_gene_variant PACA-CA 2 172574810 172574810 insertion of <=200bp - T downstream_gene_variant PACA-CA 2 172574810 172574810 insertion of <=200bp - T intron_variant PACA-CA 2 172577778 172577778 single base substitution C T intron_variant PACA-CA 2 172579562 172579562 deletion of <=200bp T - intron_variant PACA-CA 2 172579562 172579562 deletion of <=200bp T - upstream_gene_variant PACA-CA 2 172580277 172580277 single base substitution G A intron_variant PACA-CA 2 172580277 172580277 single base substitution G A upstream_gene_variant PACA-CA 2 172582693 172582693 deletion of <=200bp T - downstream_gene_variant PACA-CA 2 172582693 172582693 deletion of <=200bp T - exon_variant PACA-CA 2 172582693 172582693 deletion of <=200bp T - intron_variant PACA-CA 2 172582693 172582693 deletion of <=200bp T - upstream_gene_variant PACA-CA 2 172582888 172582888 single base substitution G T downstream_gene_variant PACA-CA 2 172582888 172582888 single base substitution G T intron_variant PACA-CA 2 172582888 172582888 single base substitution G T upstream_gene_variant PACA-CA 2 172585298 172585298 single base substitution T C downstream_gene_variant PACA-CA 2 172585298 172585298 single base substitution T C exon_variant PACA-CA 2 172585298 172585298 single base substitution T C synonymous_variant D417D 1251T>C PACA-CA 2 172585298 172585298 single base substitution T C synonymous_variant D435D 1305T>C PACA-CA 2 172585298 172585298 single base substitution T C synonymous_variant D437D 1311T>C PACA-CA 2 172585298 172585298 single base substitution T C synonymous_variant D443D 1329T>C PACA-CA 2 172588968 172588968 single base substitution G T intron_variant PACA-CA 2 172592010 172592010 single base substitution C G intron_variant PACA-CA 2 172594562 172594562 single base substitution C T intron_variant PACA-CA 2 172595396 172595396 single base substitution C T intron_variant PACA-CA 2 172598216 172598216 single base substitution C G intron_variant PACA-CA 2 172602760 172602760 single base substitution G T intron_variant PACA-CA 2 172603208 172603208 single base substitution T G intron_variant PAEN-AU 2 172576656 172576656 single base substitution A G downstream_gene_variant PAEN-AU 2 172576656 172576656 single base substitution A G intron_variant PAEN-IT 2 172546446 172546446 single base substitution G T intron_variant PAEN-IT 2 172546446 172546446 single base substitution G T upstream_gene_variant PBCA-DE 2 172539426 172539426 insertion of <=200bp - A upstream_gene_variant PBCA-DE 2 172541197 172541197 single base substitution G T upstream_gene_variant PBCA-DE 2 172545222 172545222 single base substitution T G intron_variant PBCA-DE 2 172545222 172545222 single base substitution T G upstream_gene_variant PBCA-DE 2 172549336 172549336 deletion of <=200bp T - exon_variant PBCA-DE 2 172549336 172549336 deletion of <=200bp T - frameshift_variant L53 PBCA-DE 2 172556802 172556803 deletion of <=200bp AG - intron_variant PBCA-DE 2 172557448 172557464 deletion of <=200bp CTAGTTTTATAGCCTGT - intron_variant PBCA-DE 2 172565151 172565151 single base substitution A T intron_variant PBCA-DE 2 172565151 172565151 single base substitution A T upstream_gene_variant PBCA-DE 2 172566839 172566839 insertion of <=200bp - CAAA intron_variant PBCA-DE 2 172566839 172566839 insertion of <=200bp - CAAA upstream_gene_variant PBCA-DE 2 172567519 172567519 single base substitution C T intron_variant PBCA-DE 2 172567519 172567519 single base substitution C T upstream_gene_variant PBCA-DE 2 172572622 172572622 insertion of <=200bp - A downstream_gene_variant PBCA-DE 2 172572622 172572622 insertion of <=200bp - A intron_variant PBCA-DE 2 172590510 172590510 single base substitution C A intron_variant PBCA-DE 2 172590519 172590519 single base substitution A G intron_variant PBCA-DE 2 172603798 172603798 single base substitution G T intron_variant PRAD-CA 2 172549965 172549965 single base substitution G T downstream_gene_variant PRAD-CA 2 172549965 172549965 single base substitution G T intron_variant PRAD-CA 2 172553265 172553265 single base substitution C T downstream_gene_variant PRAD-CA 2 172553265 172553265 single base substitution C T intron_variant PRAD-CA 2 172560856 172560856 single base substitution C T intron_variant PRAD-CA 2 172560856 172560856 single base substitution C T upstream_gene_variant PRAD-CA 2 172562130 172562130 single base substitution A C intron_variant PRAD-CA 2 172562130 172562130 single base substitution A C upstream_gene_variant PRAD-CA 2 172567224 172567224 single base substitution C T intron_variant PRAD-CA 2 172567224 172567224 single base substitution C T upstream_gene_variant PRAD-CA 2 172570052 172570052 single base substitution G C downstream_gene_variant PRAD-CA 2 172570052 172570052 single base substitution G C intron_variant PRAD-CA 2 172570052 172570052 single base substitution G C upstream_gene_variant PRAD-CA 2 172591751 172591751 single base substitution C T intron_variant PRAD-UK 2 172542011 172542011 deletion of <=200bp G - upstream_gene_variant PRAD-UK 2 172548064 172548064 single base substitution A G intron_variant PRAD-UK 2 172551168 172551168 insertion of <=200bp - A downstream_gene_variant PRAD-UK 2 172551168 172551168 insertion of <=200bp - A intron_variant PRAD-UK 2 172556989 172556989 single base substitution C T intron_variant PRAD-UK 2 172591211 172591211 single base substitution G A intron_variant PRAD-UK 2 172601559 172601559 single base substitution G C intron_variant RECA-EU 2 172553836 172553836 single base substitution T A downstream_gene_variant RECA-EU 2 172553836 172553836 single base substitution T A intron_variant RECA-EU 2 172555831 172555831 single base substitution G A intron_variant RECA-EU 2 172563485 172563485 single base substitution A C exon_variant RECA-EU 2 172563485 172563485 single base substitution A C intron_variant RECA-EU 2 172572515 172572515 single base substitution G T downstream_gene_variant RECA-EU 2 172572515 172572515 single base substitution G T intron_variant RECA-EU 2 172579474 172579474 single base substitution C G intron_variant RECA-EU 2 172579474 172579474 single base substitution C G upstream_gene_variant RECA-EU 2 172593807 172593807 single base substitution T G intron_variant SKCA-BR 2 172539724 172539724 single base substitution T C upstream_gene_variant SKCA-BR 2 172540936 172540936 single base substitution C T upstream_gene_variant SKCA-BR 2 172542704 172542704 single base substitution C T upstream_gene_variant SKCA-BR 2 172547049 172547049 single base substitution C T intron_variant SKCA-BR 2 172547623 172547623 single base substitution A T intron_variant SKCA-BR 2 172550830 172550830 single base substitution T G downstream_gene_variant SKCA-BR 2 172550830 172550830 single base substitution T G intron_variant SKCA-BR 2 172550870 172550870 single base substitution T G downstream_gene_variant SKCA-BR 2 172550870 172550870 single base substitution T G intron_variant SKCA-BR 2 172551695 172551695 single base substitution C T downstream_gene_variant SKCA-BR 2 172551695 172551695 single base substitution C T intron_variant SKCA-BR 2 172555050 172555050 single base substitution A G intron_variant SKCA-BR 2 172564573 172564573 insertion of <=200bp - TCACACA intron_variant SKCA-BR 2 172564573 172564573 insertion of <=200bp - TCACACA upstream_gene_variant SKCA-BR 2 172564573 172564573 insertion of <=200bp - TCACA intron_variant SKCA-BR 2 172564573 172564573 insertion of <=200bp - TCACA upstream_gene_variant SKCA-BR 2 172567225 172567225 single base substitution T C intron_variant SKCA-BR 2 172567225 172567225 single base substitution T C upstream_gene_variant SKCA-BR 2 172580364 172580364 single base substitution T G intron_variant SKCA-BR 2 172580364 172580364 single base substitution T G upstream_gene_variant SKCA-BR 2 172588010 172588010 single base substitution C T downstream_gene_variant SKCA-BR 2 172588010 172588010 single base substitution C T intron_variant SKCA-BR 2 172589364 172589364 single base substitution A G intron_variant SKCA-BR 2 172592026 172592026 single base substitution C T intron_variant SKCA-BR 2 172597188 172597188 single base substitution G T intron_variant SKCA-BR 2 172604549 172604549 single base substitution C T 3_prime_UTR_variant SKCA-BR 2 172604549 172604549 single base substitution C T downstream_gene_variant SKCA-BR 2 172604549 172604549 single base substitution C T exon_variant SKCA-BR 2 172605190 172605190 single base substitution C T downstream_gene_variant SKCA-BR 2 172607052 172607052 single base substitution G T downstream_gene_variant SKCA-BR 2 172607236 172607236 single base substitution C T downstream_gene_variant SKCM-US 2 172563854 172563854 single base substitution G A exon_variant SKCM-US 2 172563854 172563854 single base substitution G A intron_variant SKCM-US 2 172563854 172563854 single base substitution G A missense_variant S101N 302G>A SKCM-US 2 172563854 172563854 single base substitution G A missense_variant S113N 338G>A SKCM-US 2 172563854 172563854 single base substitution G A missense_variant S95N 284G>A SKCM-US 2 172582157 172582157 single base substitution C T 3_prime_UTR_variant SKCM-US 2 172582157 172582157 single base substitution C T exon_variant SKCM-US 2 172582157 172582157 single base substitution C T missense_variant P155S 463C>T SKCM-US 2 172582157 172582157 single base substitution C T missense_variant P173S 517C>T SKCM-US 2 172582157 172582157 single base substitution C T missense_variant P175S 523C>T SKCM-US 2 172582157 172582157 single base substitution C T missense_variant P181S 541C>T SKCM-US 2 172582157 172582157 single base substitution C T missense_variant P193S 577C>T SKCM-US 2 172582157 172582157 single base substitution C T upstream_gene_variant SKCM-US 2 172582164 172582164 single base substitution C T 3_prime_UTR_variant SKCM-US 2 172582164 172582164 single base substitution C T downstream_gene_variant SKCM-US 2 172582164 172582164 single base substitution C T exon_variant SKCM-US 2 172582164 172582164 single base substitution C T missense_variant P157L 470C>T SKCM-US 2 172582164 172582164 single base substitution C T missense_variant P175L 524C>T SKCM-US 2 172582164 172582164 single base substitution C T missense_variant P177L 530C>T SKCM-US 2 172582164 172582164 single base substitution C T missense_variant P183L 548C>T SKCM-US 2 172582164 172582164 single base substitution C T missense_variant P195L 584C>T SKCM-US 2 172582164 172582164 single base substitution C T upstream_gene_variant SKCM-US 2 172582223 172582223 single base substitution G A downstream_gene_variant SKCM-US 2 172582223 172582223 single base substitution G A missense_variant A177T 529G>A SKCM-US 2 172582223 172582223 single base substitution G A missense_variant A195T 583G>A SKCM-US 2 172582223 172582223 single base substitution G A missense_variant A197T 589G>A SKCM-US 2 172582223 172582223 single base substitution G A missense_variant A203T 607G>A SKCM-US 2 172582223 172582223 single base substitution G A splice_region_variant SKCM-US 2 172582223 172582223 single base substitution G A synonymous_variant ?215 SKCM-US 2 172582223 172582223 single base substitution G A upstream_gene_variant SKCM-US 2 172585245 172585245 single base substitution C T downstream_gene_variant SKCM-US 2 172585245 172585245 single base substitution C T exon_variant SKCM-US 2 172585245 172585245 single base substitution C T missense_variant H400Y 1198C>T SKCM-US 2 172585245 172585245 single base substitution C T missense_variant H418Y 1252C>T SKCM-US 2 172585245 172585245 single base substitution C T missense_variant H420Y 1258C>T SKCM-US 2 172585245 172585245 single base substitution C T missense_variant H426Y 1276C>T SKCM-US 2 172585282 172585282 single base substitution C T downstream_gene_variant SKCM-US 2 172585282 172585282 single base substitution C T exon_variant SKCM-US 2 172585282 172585282 single base substitution C T missense_variant S412F 1235C>T SKCM-US 2 172585282 172585282 single base substitution C T missense_variant S430F 1289C>T SKCM-US 2 172585282 172585282 single base substitution C T missense_variant S432F 1295C>T SKCM-US 2 172585282 172585282 single base substitution C T missense_variant S438F 1313C>T STAD-US 2 172546719 172546719 single base substitution G T exon_variant STAD-US 2 172546719 172546719 single base substitution G T synonymous_variant L18L 54G>T STAD-US 2 172563057 172563057 insertion of <=200bp - T frameshift_variant V76V? STAD-US 2 172563057 172563057 insertion of <=200bp - T intron_variant STAD-US 2 172563057 172563057 insertion of <=200bp - T upstream_gene_variant STAD-US 2 172563873 172563873 single base substitution C T exon_variant STAD-US 2 172563873 172563873 single base substitution C T intron_variant STAD-US 2 172563873 172563873 single base substitution C T synonymous_variant G101G 303C>T STAD-US 2 172563873 172563873 single base substitution C T synonymous_variant G107G 321C>T STAD-US 2 172563873 172563873 single base substitution C T synonymous_variant G119G 357C>T STAD-US 2 172583353 172583353 single base substitution A C downstream_gene_variant STAD-US 2 172583353 172583353 single base substitution A C exon_variant STAD-US 2 172583353 172583353 single base substitution A C missense_variant E282A 845A>C STAD-US 2 172583353 172583353 single base substitution A C missense_variant E300A 899A>C STAD-US 2 172583353 172583353 single base substitution A C missense_variant E302A 905A>C STAD-US 2 172583353 172583353 single base substitution A C missense_variant E308A 923A>C THCA-SA 2 172585298 172585298 single base substitution T C downstream_gene_variant THCA-SA 2 172585298 172585298 single base substitution T C exon_variant THCA-SA 2 172585298 172585298 single base substitution T C synonymous_variant D417D 1251T>C THCA-SA 2 172585298 172585298 single base substitution T C synonymous_variant D435D 1305T>C THCA-SA 2 172585298 172585298 single base substitution T C synonymous_variant D437D 1311T>C THCA-SA 2 172585298 172585298 single base substitution T C synonymous_variant D443D 1329T>C UCEC-US 2 172546703 172546703 single base substitution G A exon_variant UCEC-US 2 172546703 172546703 single base substitution G A missense_variant R13H 38G>A UCEC-US 2 172563806 172563806 single base substitution C T exon_variant UCEC-US 2 172563806 172563806 single base substitution C T intron_variant UCEC-US 2 172563806 172563806 single base substitution C T missense_variant P79L 236C>T UCEC-US 2 172563806 172563806 single base substitution C T missense_variant P85L 254C>T UCEC-US 2 172563806 172563806 single base substitution C T missense_variant P97L 290C>T UCEC-US 2 172571877 172571877 single base substitution A C downstream_gene_variant UCEC-US 2 172571877 172571877 single base substitution A C exon_variant UCEC-US 2 172571877 172571877 single base substitution A C missense_variant Q119H 357A>C UCEC-US 2 172571877 172571877 single base substitution A C missense_variant Q137H 411A>C UCEC-US 2 172571877 172571877 single base substitution A C missense_variant Q139H 417A>C UCEC-US 2 172571877 172571877 single base substitution A C missense_variant Q145H 435A>C UCEC-US 2 172571877 172571877 single base substitution A C missense_variant Q157H 471A>C UCEC-US 2 172571877 172571877 single base substitution A C upstream_gene_variant UCEC-US 2 172571894 172571894 single base substitution G A downstream_gene_variant UCEC-US 2 172571894 172571894 single base substitution G A exon_variant UCEC-US 2 172571894 172571894 single base substitution G A missense_variant R125Q 374G>A UCEC-US 2 172571894 172571894 single base substitution G A missense_variant R143Q 428G>A UCEC-US 2 172571894 172571894 single base substitution G A missense_variant R145Q 434G>A UCEC-US 2 172571894 172571894 single base substitution G A missense_variant R151Q 452G>A UCEC-US 2 172571894 172571894 single base substitution G A missense_variant R163Q 488G>A UCEC-US 2 172571894 172571894 single base substitution G A upstream_gene_variant UCEC-US 2 172582799 172582799 single base substitution C T downstream_gene_variant UCEC-US 2 172582799 172582799 single base substitution C T exon_variant UCEC-US 2 172582799 172582799 single base substitution C T missense_variant S263F 788C>T UCEC-US 2 172582799 172582799 single base substitution C T missense_variant S281F 842C>T UCEC-US 2 172582799 172582799 single base substitution C T missense_variant S283F 848C>T UCEC-US 2 172582799 172582799 single base substitution C T missense_variant S289F 866C>T UCEC-US 2 172582799 172582799 single base substitution C T upstream_gene_variant UCEC-US 2 172584350 172584350 single base substitution C T downstream_gene_variant UCEC-US 2 172584350 172584350 single base substitution C T exon_variant UCEC-US 2 172584350 172584350 single base substitution C T missense_variant T313I 938C>T UCEC-US 2 172584350 172584350 single base substitution C T missense_variant T331I 992C>T UCEC-US 2 172584350 172584350 single base substitution C T missense_variant T333I 998C>T UCEC-US 2 172584350 172584350 single base substitution C T missense_variant T339I 1016C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand pfg127T COSM1401256 c.97delA p.E36fs*34 Deletion - Frameshift 2:171690252-171690252 + CHEWS026 COSM4582805 c.1847G>A p.R616Q Substitution - Missense 2:171747819-171747819 + 587222 COSM1204767 c.85G>T p.E29* Substitution - Nonsense 2:171690240-171690240 + TCGA-BG-A18B-01 COSM1009547 c.254C>T p.P85L Substitution - Missense 2:171707296-171707296 + SC_9082 COSM1401257 c.160_161insA p.R57fs*5 Insertion - Frameshift 2:171692828-171692829 + TCGA-AD-6889-01 COSM1401262 c.1351A>G p.S451G Substitution - Missense 2:171728810-171728810 + TCGA-IR-A3LK-01 COSM4818222 c.1327G>A p.D443N Substitution - Missense 2:171728786-171728786 + RK034_C01 COSM1631451 c.162A>G p.E54E Substitution - coding silent 2:171692830-171692830 + TCGA-AG-A020-01 COSM295323 c.161delA p.R57fs*13 Deletion - Frameshift 2:171692829-171692829 + CHEWS031 COSM4582803 c.1118C>T p.T373I Substitution - Missense 2:171727942-171727942 + CSCC-30-T COSM4451729 c.1377A>T p.A459A Substitution - coding silent 2:171728836-171728836 + T1154 COSM4679810 c.938C>T p.A313V Substitution - Missense 2:171726858-171726858 + TCGA-G4-6628-01 COSM1401256 c.97delA p.E36fs*34 Deletion - Frameshift 2:171690252-171690252 + pfg008T COSM4763581 c.1591A>G p.M531V Substitution - Missense 2:171744103-171744103 + TCGA-AG-A02N-01 COSM5074823 c.600T>C p.D200D Substitution - coding silent 2:171725706-171725706 + NOKSI COSM4595927 c.415G>A p.G139R Substitution - Missense 2:171715347-171715347 + Pat_05_A COSM5860593 c.914C>T p.A305V Substitution - Missense 2:171726834-171726834 + RH18C COSM4984932 c.401G>C p.G134A Substitution - Missense 2:171715333-171715333 + Gp5D COSM2893317 c.637A>G p.K213E Substitution - Missense 2:171725948-171725948 + pfg122T COSM295323 c.161delA p.R57fs*13 Deletion - Frameshift 2:171692829-171692829 + TCGA-FS-A1ZK-06 COSM3569991 c.302G>A p.S101N Substitution - Missense 2:171707344-171707344 + ESCC-009T COSM3938625 c.311C>G p.S104C Substitution - Missense 2:171707353-171707353 + RK034_C COSM1631451 c.162A>G p.E54E Substitution - coding silent 2:171692830-171692830 + CSCC-30-T COSM4457115 c.1033C>T p.P345S Substitution - Missense 2:171727857-171727857 + PTC_213 COSM397691 c.1329T>C p.D443D Substitution - coding silent 2:171728788-171728788 + TCGA-HJ-7597-01 COSM4086756 c.321C>T p.G107G Substitution - coding silent 2:171707363-171707363 + TCGA-CG-5728-01 COSM4086758 c.923A>C p.E308A Substitution - Missense 2:171726843-171726843 + T3021 COSM295323 c.161delA p.R57fs*13 Deletion - Frameshift 2:171692829-171692829 + LUAD-RT-S01699 COSM378315 c.1612G>C p.A538P Substitution - Missense 2:171744124-171744124 + pfg068T COSM1401256 c.97delA p.E36fs*34 Deletion - Frameshift 2:171690252-171690252 + TCGA-D1-A17A-01 COSM1009551 c.1016C>T p.T339I Substitution - Missense 2:171727840-171727840 + S0029 COSM5883289 c.778C>T p.Q260* Substitution - Nonsense 2:171726201-171726201 + TCGA-G4-6628-01 COSM1401257 c.160_161insA p.R57fs*5 Insertion - Frameshift 2:171692828-171692829 + HX23T COSM3709065 c.1145A>T p.H382L Substitution - Missense 2:171728306-171728306 + TCGA-AG-A020-01 COSM1401257 c.160_161insA p.R57fs*5 Insertion - Frameshift 2:171692828-171692829 + TCGA-AY-6197-01 COSM295323 c.161delA p.R57fs*13 Deletion - Frameshift 2:171692829-171692829 + ESOSCC162T COSM1172818 c.602G>A p.S201N Substitution - Missense 2:171725708-171725708 + HCC19T COSM1613698 c.708T>G p.A236A Substitution - coding silent 2:171726019-171726019 + DLD1 COSM4624466 c.573A>G p.K191K Substitution - coding silent 2:171725679-171725679 + TCGA-AP-A0LM-01 COSM1009550 c.866C>T p.S289F Substitution - Missense 2:171726289-171726289 + PCSI_0044_Pa_P COSM397691 c.1329T>C p.D443D Substitution - coding silent 2:171728788-171728788 + TCGA-EK-A2RD-01 COSM4820206 c.370C>T p.Q124* Substitution - Nonsense 2:171712801-171712801 + TCGA-FW-A3R5-06 COSM3895351 c.548C>T p.P183L Substitution - Missense 2:171725654-171725654 + HCC89 COSM1613699 c.1761G>A p.V587V Substitution - coding silent 2:171745885-171745885 + 8062308 COSM3391118 c.506A>G p.K169R Substitution - Missense 2:171715438-171715438 + TCGA-Q1-A6DV-01 COSM397691 c.1329T>C p.D443D Substitution - coding silent 2:171728788-171728788 + CHEWS032 COSM4425483 c.1858G>A p.E620K Substitution - Missense 2:171747830-171747830 + PCSI_0001_Pa_P COSM397691 c.1329T>C p.D443D Substitution - coding silent 2:171728788-171728788 + TCGA-AG-A002-01 COSM260617 c.1039C>A p.L347I Substitution - Missense 2:171727863-171727863 + TCGA-EB-A41A-01 COSM2893332 c.1313C>T p.S438F Substitution - Missense 2:171728772-171728772 + 214 COSM4424332 c.1621G>C p.A541P Substitution - Missense 2:171744133-171744133 + T3202 COSM295323 c.161delA p.R57fs*13 Deletion - Frameshift 2:171692829-171692829 + HCC89T COSM1613699 c.1761G>A p.V587V Substitution - coding silent 2:171745885-171745885 + pfg008T COSM1401256 c.97delA p.E36fs*34 Deletion - Frameshift 2:171690252-171690252 + 223 COSM4425483 c.1858G>A p.E620K Substitution - Missense 2:171747830-171747830 + TCGA-AP-A0LM-01 COSM1009549 c.452G>A p.R151Q Substitution - Missense 2:171715384-171715384 + BD30T COSM5509057 c.1721A>G p.N574S Substitution - Missense 2:171745845-171745845 + TCGA-EE-A3JI-06 COSM3569995 c.607G>A p.A203T Substitution - Missense 2:171725713-171725713 + TCGA-AA-3845-01 COSM295323 c.161delA p.R57fs*13 Deletion - Frameshift 2:171692829-171692829 + BL42 COSM3728034 c.431C>T p.T144M Substitution - Missense 2:171715363-171715363 + Gp5D COSM2893336 c.1358A>T p.E453V Substitution - Missense 2:171728817-171728817 + 46M COSM5587686 c.321delC p.A108fs*71 Deletion - Frameshift 2:171707363-171707363 + pfg008T COSM295323 c.161delA p.R57fs*13 Deletion - Frameshift 2:171692829-171692829 + BD9T COSM5502081 c.1177C>G p.Q393E Substitution - Missense 2:171728338-171728338 + TCGA-DC-6160-01 COSM295323 c.161delA p.R57fs*13 Deletion - Frameshift 2:171692829-171692829 + YUOTHO COSM5394951 c.656C>T p.S219F Substitution - Missense 2:171725967-171725967 + LOVO COSM2893345 c.1703A>T p.E568V Substitution - Missense 2:171745827-171745827 + HCC19 COSM1613698 c.708T>G p.A236A Substitution - coding silent 2:171726019-171726019 + LUAD-S01346 COSM397691 c.1329T>C p.D443D Substitution - coding silent 2:171728788-171728788 + I2L-P7-Tumor-Organoid COSM5354660 c.1371C>T p.Y457Y Substitution - coding silent 2:171728830-171728830 + ESO-580 COSM1250835 c.648C>A p.I216I Substitution - coding silent 2:171725959-171725959 + PTC_199 COSM397691 c.1329T>C p.D443D Substitution - coding silent 2:171728788-171728788 + Pat_05_A COSM5860595 c.916C>T p.P306S Substitution - Missense 2:171726836-171726836 + 61 COSM5736257 c.161_162insA p.R57fs*5 Insertion - Frameshift 2:171692829-171692830 + ESCC_143 COSM4305875 c.169A>G p.R57G Substitution - Missense 2:171692837-171692837 + Pat_05_B COSM5860593 c.914C>T p.A305V Substitution - Missense 2:171726834-171726834 + TCGA-EE-A3AF-06 COSM3569993 c.541C>T p.P181S Substitution - Missense 2:171725647-171725647 + TCGA-DC-6157-01 COSM295323 c.161delA p.R57fs*13 Deletion - Frameshift 2:171692829-171692829 + GHE0436 COSM2893311 c.325G>A p.V109M Substitution - Missense 2:171707367-171707367 + TCGA-EK-A2RD-01 COSM4820179 c.362C>T p.S121L Substitution - Missense 2:171712793-171712793 + DN12101 COSM5797064 c.143A>G p.Q48R Substitution - Missense 2:171692811-171692811 + TCGA-CM-5861-01 COSM1401261 c.1243C>T p.L415F Substitution - Missense 2:171728404-171728404 + 4 COSM1237090 c.22A>C p.K8Q Substitution - Missense 2:171690177-171690177 + 392 COSM4428247 c.863C>T p.S288L Substitution - Missense 2:171726286-171726286 + J76_T COSM3961538 c.1381C>A p.R461S Substitution - Missense 2:171728840-171728840 + TCGA-FW-A3R5-06 COSM3895353 c.1276C>T p.H426Y Substitution - Missense 2:171728735-171728735 + EGC8 COSM1401256 c.97delA p.E36fs*34 Deletion - Frameshift 2:171690252-171690252 + TCGA-BG-A18B-01 COSM1009546 c.38G>A p.R13H Substitution - Missense 2:171690193-171690193 + STC291 COSM1401256 c.97delA p.E36fs*34 Deletion - Frameshift 2:171690252-171690252 + PT52 COSM5938862 c.1723C>T p.R575C Substitution - Missense 2:171745847-171745847 + pfg143T COSM295323 c.161delA p.R57fs*13 Deletion - Frameshift 2:171692829-171692829 + 411 COSM4430971 c.1134_1135insT p.A379fs*22 Insertion - Frameshift 2:171727958-171727959 + TCGA-AP-A051-01 COSM1009548 c.435A>C p.Q145H Substitution - Missense 2:171715367-171715367 + LUAD-RT-S01477 COSM392104 c.1082delA p.D361fs*27 Deletion - Frameshift 2:171727906-171727906 + S01297 COSM5667573 c.346T>G p.W116G Substitution - Missense 2:171712777-171712777 + TCGA-CS-6666-01 COSM3971726 c.1445T>C p.I482T Substitution - Missense 2:171729762-171729762 + T3724 COSM4679812 c.1366G>A p.V456M Substitution - Missense 2:171728825-171728825 + LUAD-S01331 COSM396518 c.861G>A p.W287* Substitution - Nonsense 2:171726284-171726284 + TCGA-Q1-A6DV-01 COSM4850924 c.1640G>T p.G547V Substitution - Missense 2:171744152-171744152 + TCGA-33-6737-01 COSM717738 c.681C>G p.D227E Substitution - Missense 2:171725992-171725992 + Pat_05_B COSM5860595 c.916C>T p.P306S Substitution - Missense 2:171726836-171726836 + tumor_4194218 COSM1161319 c.1594T>C p.W532R Substitution - Missense 2:171744106-171744106 + EW8 COSM2893315 c.440A>G p.D147G Substitution - Missense 2:171715372-171715372 + CSCC-62-T COSM2893333 c.1317C>T p.F439F Substitution - coding silent 2:171728776-171728776 + pfg181T COSM1401256 c.97delA p.E36fs*34 Deletion - Frameshift 2:171690252-171690252 + TCGA-BR-4280-01 COSM4086754 c.54G>T p.L18L Substitution - coding silent 2:171690209-171690209 + I2L-P19Tb-Tumor-Organoid COSM5157266 c.96_97insA p.E36fs*19 Insertion - Frameshift 2:171690251-171690252 + HX17T COSM1613697 c.498T>C p.A166A Substitution - coding silent 2:171715430-171715430 + TCGA-13-0894-01 COSM74470 c.344A>T p.H115L Substitution - Missense 2:171712775-171712775 + TCGA-DC-6160-01 COSM1401256 c.97delA p.E36fs*34 Deletion - Frameshift 2:171690252-171690252 + C086 COSM5530273 c.613C>T p.P205S Substitution - Missense 2:171725924-171725924 + STC232 COSM295323 c.161delA p.R57fs*13 Deletion - Frameshift 2:171692829-171692829 + RK124_C01 COSM3702012 c.437T>C p.V146A Substitution - Missense 2:171715369-171715369 + Gp2D COSM2893317 c.637A>G p.K213E Substitution - Missense 2:171725948-171725948 + TCGA-CJ-5671-01 COSM476221 c.1520A>G p.K507R Substitution - Missense 2:171729837-171729837 + PD18048a COSM5797064 c.143A>G p.Q48R Substitution - Missense 2:171692811-171692811 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.743362 2q31.1 603331

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.E308A c.923A>C 2 172583353 STAD A - Frameshift p.E36Kfs*34 c.105delA 2 172546762 BRCA A G IntronicSNV . c.511+3741A>G 2 172575694 PIA A G Synonymous p.E54E c.162A>G 2 172549340 HC A T Missense p.H115L c.344A>T 2 172569285 OV C A Synonymous p.I216I c.648C>A 2 172582469 ESCA CC TT Missense p.P96L c.286_287delinsTT 2 172563838 CM C G Missense p.D227E c.681C>G 2 172582502 LUSC C T IntronicSNV . c.871-150C>T 2 172583151 CM C T Missense p.H344Y c.1030C>T 2 172584364 CM C T Missense p.P181S c.541C>T 2 172582157 CM C T Missense p.P85L c.254C>T 2 172563806 UCEC C T Missense p.T339I c.1016C>T 2 172584350 UCEC G A 3-UTRSNV . c.1914+100G>A 2 172604496 CM G A Missense p.A203T c.607G>A 2 172582223 CM G A Missense p.E79K c.235G>A 2 172563065 BRCA G A Missense p.R13H c.38G>A 2 172546703 UCEC G A Missense p.S101N c.302G>A 2 172563854 CM G C Missense p.V179L c.535G>C 2 172582151 BRCA G T Synonymous p.L18L c.54G>T 2 172546719 STAD T C Missense p.I482T c.1445T>C 2 172586272 LGG T C Missense p.W532R c.1594T>C 2 172600616 DLBCL T C Synonymous p.D443D c.1329T>C 2 172585298 BRCA