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 3 39093559 39093559 + Missense_Mutation SNP G G T TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 g.chr3:39093559G>T c.43G>T c.(43-45)Gtg>Ttg p.V15L BLCA 3 39104607 39104607 + Missense_Mutation SNP G G A TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr3:39104607G>A c.115G>A c.(115-117)Gat>Aat p.D39N BLCA 3 39108242 39108242 + Silent SNP C C T TCGA-DK-A6AV-01A-12D-A30E-08 TCGA-DK-A6AV-10A-01D-A30H-08 g.chr3:39108242C>T c.357C>T c.(355-357)taC>taT p.Y119Y BLCA 3 39108315 39108315 + Missense_Mutation SNP T T C TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr3:39108315T>C c.430T>C c.(430-432)Tgg>Cgg p.W144R BLCA 3 39126135 39126135 + Splice_Site SNP G G A TCGA-ZF-AA4X-01A-11D-A38G-08 TCGA-ZF-AA4X-10A-01D-A38J-08 g.chr3:39126135G>A c.e13-1 BLCA 3 39135477 39135477 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr3:39135477G>A c.1858G>A c.(1858-1860)Gaa>Aaa p.E620K BLCA 3 39135489 39135489 + Missense_Mutation SNP G G A TCGA-DK-A3IN-01A-11D-A20D-08 TCGA-DK-A3IN-10A-01D-A20D-08 g.chr3:39135489G>A c.1870G>A c.(1870-1872)Gaa>Aaa p.E624K BRCA 3 39118666 39118666 + Missense_Mutation SNP A A G TCGA-AO-A0J6-01A-11W-A050-09 TCGA-AO-A0J6-10A-01W-A055-09 g.chr3:39118666A>G c.934A>G c.(934-936)Att>Gtt p.I312V BRCA 3 39136217 39136217 + Missense_Mutation SNP C C T TCGA-BH-A0BC-01A-22D-A099-09 TCGA-BH-A0BC-10A-01D-A099-09 g.chr3:39136217C>T c.2017C>T c.(2017-2019)Cgt>Tgt p.R673C CESC 3 39116328 39116328 + Missense_Mutation SNP G G A TCGA-IR-A3LL-01A-11D-A20U-09 TCGA-IR-A3LL-10A-01D-A20U-09 g.chr3:39116328G>A c.784G>A c.(784-786)Gat>Aat p.D262N CESC 3 39125682 39125682 + Missense_Mutation SNP G G A TCGA-C5-A1MH-01A-11D-A14W-08 TCGA-C5-A1MH-10A-01D-A14W-08 g.chr3:39125682G>A c.1210G>A c.(1210-1212)Gaa>Aaa p.E404K COAD 3 39104575 39104575 + Missense_Mutation SNP A A G TCGA-A6-6652-01A-11D-1771-10 TCGA-A6-6652-10A-01D-1771-10 g.chr3:39104575A>G c.83A>G c.(82-84)tAc>tGc p.Y28C COAD 3 39104580 39104580 + Nonsense_Mutation SNP C C T TCGA-AA-3972-01A-01W-0995-10 TCGA-AA-3972-10A-01W-0999-10 g.chr3:39104580C>T c.88C>T c.(88-90)Cga>Tga p.R30* COAD 3 39111231 39111231 + Missense_Mutation SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr3:39111231C>T c.668C>T c.(667-669)aCg>aTg p.T223M COAD 3 39111232 39111232 + Silent SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr3:39111232G>A c.669G>A c.(667-669)acG>acA p.T223T COAD 3 39125663 39125663 + Silent SNP T T C TCGA-AA-A02K-01A-21W-A096-10 TCGA-AA-A02K-10A-01W-A096-10 g.chr3:39125663T>C c.1191T>C c.(1189-1191)gaT>gaC p.D397D COAD 3 39127100 39127100 + Splice_Site SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:39127100T>C c.1473T>C c.(1471-1473)caT>caC p.H491H COAD 3 39133148 39133148 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:39133148C>A c.1701C>A c.(1699-1701)ttC>ttA p.F567L COAD 3 39133187 39133187 + Missense_Mutation SNP A A T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr3:39133187A>T c.1740A>T c.(1738-1740)ttA>ttT p.L580F COADREAD 3 39104575 39104575 + Missense_Mutation SNP A A G TCGA-A6-6652-01A-11D-1771-10 TCGA-A6-6652-10A-01D-1771-10 g.chr3:39104575A>G c.83A>G c.(82-84)tAc>tGc p.Y28C COADREAD 3 39104580 39104580 + Nonsense_Mutation SNP C C T TCGA-AA-3972-01A-01W-0995-10 TCGA-AA-3972-10A-01W-0999-10 g.chr3:39104580C>T c.88C>T c.(88-90)Cga>Tga p.R30* COADREAD 3 39111231 39111231 + Missense_Mutation SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr3:39111231C>T c.668C>T c.(667-669)aCg>aTg p.T223M COADREAD 3 39111232 39111232 + Silent SNP G G A TCGA-CM-4743-01A-01D-1719-10 TCGA-CM-4743-10A-01D-1719-10 g.chr3:39111232G>A c.669G>A c.(667-669)acG>acA p.T223T COADREAD 3 39125663 39125663 + Silent SNP T T C TCGA-AA-A02K-01A-21W-A096-10 TCGA-AA-A02K-10A-01W-A096-10 g.chr3:39125663T>C c.1191T>C c.(1189-1191)gaT>gaC p.D397D COADREAD 3 39127100 39127100 + Splice_Site SNP T T C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:39127100T>C c.1473T>C c.(1471-1473)caT>caC p.H491H COADREAD 3 39133148 39133148 + Missense_Mutation SNP C C A TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr3:39133148C>A c.1701C>A c.(1699-1701)ttC>ttA p.F567L COADREAD 3 39133187 39133187 + Missense_Mutation SNP A A T TCGA-AA-3516-01A-02W-0833-10 TCGA-AA-3516-10A-01W-0833-10 g.chr3:39133187A>T c.1740A>T c.(1738-1740)ttA>ttT p.L580F ESCA 3 39111206 39111206 + Missense_Mutation SNP G G T TCGA-IC-A6RE-01A-11D-A33E-09 TCGA-IC-A6RE-10A-01D-A33H-09 g.chr3:39111206G>T c.643G>T c.(643-645)Gca>Tca p.A215S ESCA 3 39116253 39116253 + Missense_Mutation SNP T T C TCGA-L5-A8NF-01A-11D-A37C-09 TCGA-L5-A8NF-11A-11D-A37F-09 g.chr3:39116253T>C c.709T>C c.(709-711)Tgg>Cgg p.W237R ESCA 3 39130733 39130733 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 g.chr3:39130733G>T c.1592G>T c.(1591-1593)cGa>cTa p.R531L GBM 3 39126186 39126186 + Silent SNP T T G TCGA-27-2528-01A-01D-1494-08 TCGA-27-2528-10A-01D-1494-08 g.chr3:39126186T>G c.1332T>G c.(1330-1332)tcT>tcG p.S444S GBMLGG 3 39126186 39126186 + Silent SNP T T G TCGA-27-2528-01A-01D-1494-08 TCGA-27-2528-10A-01D-1494-08 g.chr3:39126186T>G c.1332T>G c.(1330-1332)tcT>tcG p.S444S HNSC 3 39104562 39104562 + Missense_Mutation SNP G G C TCGA-CR-6484-01A-11D-1870-08 TCGA-CR-6484-10A-01D-1870-08 g.chr3:39104562G>C c.70G>C c.(70-72)Gaa>Caa p.E24Q HNSC 3 39116272 39116272 + Missense_Mutation SNP G G C TCGA-CR-7397-01A-11D-2012-08 TCGA-CR-7397-10A-01D-2013-08 g.chr3:39116272G>C c.728G>C c.(727-729)aGa>aCa p.R243T KIPAN 3 39108073 39108073 + Silent SNP A A T TCGA-CJ-4903-01A-01D-1429-08 TCGA-CJ-4903-11A-01D-1429-08 g.chr3:39108073A>T c.303A>T c.(301-303)gtA>gtT p.V101V KIRC 3 39108073 39108073 + Silent SNP A A T TCGA-CJ-4903-01A-01D-1429-08 TCGA-CJ-4903-11A-01D-1429-08 g.chr3:39108073A>T c.303A>T c.(301-303)gtA>gtT p.V101V LIHC 3 39125659 39125659 + Missense_Mutation SNP A A T TCGA-4R-AA8I-01A-11D-A382-10 TCGA-4R-AA8I-10B-01D-A385-10 g.chr3:39125659A>T c.1187A>T c.(1186-1188)gAa>gTa p.E396V LUAD 3 39110337 39110337 + Missense_Mutation SNP G G T TCGA-05-4427-01A-21D-1855-08 TCGA-05-4427-10A-01D-1855-08 g.chr3:39110337G>T c.557G>T c.(556-558)gGg>gTg p.G186V LUAD 3 39129712 39129712 + Missense_Mutation SNP G G A TCGA-17-Z058-01A-01W-0747-08 TCGA-17-Z058-11A-01W-0747-08 g.chr3:39129712G>A c.1568G>A c.(1567-1569)cGc>cAc p.R523H LUAD 3 39136217 39136217 + Missense_Mutation SNP C C A TCGA-55-8302-01A-11D-2323-08 TCGA-55-8302-10A-01D-2323-08 g.chr3:39136217C>A c.2017C>A c.(2017-2019)Cgt>Agt p.R673S LUSC 3 39136189 39136189 + Missense_Mutation SNP G G C TCGA-18-3416-01A-01D-0983-08 TCGA-18-3416-11A-01D-0983-08 g.chr3:39136189G>C c.1989G>C c.(1987-1989)aaG>aaC p.K663N OV 3 39093555 39093555 + Silent SNP G G A TCGA-13-0893-01B-01W-0494-09 TCGA-13-0893-10A-01W-0494-09 g.chr3:39093555G>A c.39G>A c.(37-39)agG>agA p.R13R OV 3 39129652 39129668 + Frame_Shift_Del DEL GAAATGGATATTTTCAA GAAATGGATATTTTCAA - TCGA-61-1900-01A-01W-0639-09 TCGA-61-1900-11A-01W-0640-09 g.chr3:39129652_39129668delGAAATGGATATTTTCAA c.1508_1524delGAAATGGATATTTTCAA c.(1507-1524)ggaaatggatattttcaafs p.GNGYFQ503fs PAAD 3 39111170 39111170 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:39111170C>A c.607C>A c.(607-609)Cta>Ata p.L203I PAAD 3 39116241 39116241 + Missense_Mutation SNP A A G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:39116241A>G c.697A>G c.(697-699)Aca>Gca p.T233A PAAD 3 39118643 39118643 + Missense_Mutation SNP G G A TCGA-IB-AAUO-01A-12D-A38G-08 TCGA-IB-AAUO-10A-01D-A38J-08 g.chr3:39118643G>A c.911G>A c.(910-912)aGa>aAa p.R304K PAAD 3 39126162 39126162 + Missense_Mutation SNP T T G TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:39126162T>G c.1308T>G c.(1306-1308)agT>agG p.S436R PAAD 3 39136218 39136218 + Missense_Mutation SNP G G A TCGA-2J-AAB4-01A-12D-A40W-08 TCGA-2J-AAB4-10A-01D-A40W-08 g.chr3:39136218G>A c.2018G>A c.(2017-2019)cGt>cAt p.R673H PRAD 3 39093536 39093536 + Missense_Mutation SNP A A G TCGA-J4-A83L-01A-11D-A34U-08 TCGA-J4-A83L-10A-01D-A34X-08 g.chr3:39093536A>G c.20A>G c.(19-21)cAg>cGg p.Q7R PRAD 3 39104561 39104561 + Frame_Shift_Del DEL T T - TCGA-ZG-A8QZ-01A-11D-A377-08 TCGA-ZG-A8QZ-10A-01D-A37A-08 g.chr3:39104561delT c.69delT c.(67-69)gatfs p.D23fs PRAD 3 39125653 39125653 + Missense_Mutation SNP A A C TCGA-HC-A76X-01A-11D-A33T-08 TCGA-HC-A76X-10A-01D-A33W-08 g.chr3:39125653A>C c.1181A>C c.(1180-1182)aAa>aCa p.K394T SKCM 3 39093555 39093555 + Silent SNP G G A TCGA-ER-A19W-06A-41D-A23B-08 TCGA-ER-A19W-10A-01D-A23B-08 g.chr3:39093555G>A c.39G>A c.(37-39)agG>agA p.R13R SKCM 3 39108073 39108073 + Silent SNP A A G TCGA-EE-A3AB-06A-11D-A196-08 TCGA-EE-A3AB-10A-01D-A198-08 g.chr3:39108073A>G c.303A>G c.(301-303)gtA>gtG p.V101V SKCM 3 39116403 39116403 + Missense_Mutation SNP C C T TCGA-D3-A2J8-06A-11D-A196-08 TCGA-D3-A2J8-10A-01D-A198-08 g.chr3:39116403C>T c.859C>T c.(859-861)Cgg>Tgg p.R287W SKCM 3 39119691 39119691 + Missense_Mutation SNP A A G TCGA-ER-A19E-06A-11D-A197-08 TCGA-ER-A19E-10A-01D-A199-08 g.chr3:39119691A>G c.1036A>G c.(1036-1038)Ata>Gta p.I346V SKCM 3 39121287 39121287 + Missense_Mutation SNP G G C TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr3:39121287G>C c.1161G>C c.(1159-1161)tgG>tgC p.W387C SKCM 3 39129711 39129711 + Missense_Mutation SNP C C T TCGA-EE-A29S-06A-11D-A197-08 TCGA-EE-A29S-10A-01D-A199-08 g.chr3:39129711C>T c.1567C>T c.(1567-1569)Cgc>Tgc p.R523C SKCM 3 39133152 39133152 + Missense_Mutation SNP C C T TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr3:39133152C>T c.1705C>T c.(1705-1707)Ctc>Ttc p.L569F SKCM 3 39133154 39133154 + Silent SNP C C A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr3:39133154C>A c.1707C>A c.(1705-1707)ctC>ctA p.L569L SKCM 3 39135452 39135452 + Silent SNP T T C TCGA-EE-A3AD-06A-11D-A196-08 TCGA-EE-A3AD-10A-01D-A198-08 g.chr3:39135452T>C c.1833T>C c.(1831-1833)tcT>tcC p.S611S SKCM 3 39136169 39136169 + Missense_Mutation SNP G G A TCGA-EE-A29V-06A-12D-A197-08 TCGA-EE-A29V-10A-01D-A199-08 g.chr3:39136169G>A c.1969G>A c.(1969-1971)Gtg>Atg p.V657M

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 3 39119662 39119662 single base substitution G C 3_prime_UTR_variant BLCA-CN 3 39119662 39119662 single base substitution G C 5_prime_UTR_variant BLCA-CN 3 39119662 39119662 single base substitution G C downstream_gene_variant BLCA-CN 3 39119662 39119662 single base substitution G C exon_variant BLCA-CN 3 39119662 39119662 single base substitution G C intron_variant BLCA-CN 3 39119662 39119662 single base substitution G C missense_variant G254A 761G>C BLCA-CN 3 39119662 39119662 single base substitution G C missense_variant G336A 1007G>C BLCA-CN 3 39129687 39129687 single base substitution G T 3_prime_UTR_variant BLCA-CN 3 39129687 39129687 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant BLCA-CN 3 39129687 39129687 single base substitution G T downstream_gene_variant BLCA-CN 3 39129687 39129687 single base substitution G T exon_variant BLCA-CN 3 39129687 39129687 single base substitution G T missense_variant V240L 718G>T BLCA-CN 3 39129687 39129687 single base substitution G T missense_variant V433L 1297G>T BLCA-CN 3 39129687 39129687 single base substitution G T missense_variant V515L 1543G>T BLCA-CN 3 39129687 39129687 single base substitution G T upstream_gene_variant BLCA-US 3 39093559 39093559 single base substitution G T 5_prime_UTR_premature_start_codon_gain_variant BLCA-US 3 39093559 39093559 single base substitution G T exon_variant BLCA-US 3 39093559 39093559 single base substitution G T missense_variant V15L 43G>T BLCA-US 3 39093559 39093559 single base substitution G T upstream_gene_variant BLCA-US 3 39135477 39135477 single base substitution G A 3_prime_UTR_variant BLCA-US 3 39135477 39135477 single base substitution G A downstream_gene_variant BLCA-US 3 39135477 39135477 single base substitution G A exon_variant BLCA-US 3 39135477 39135477 single base substitution G A missense_variant E345K 1033G>A BLCA-US 3 39135477 39135477 single base substitution G A missense_variant E538K 1612G>A BLCA-US 3 39135477 39135477 single base substitution G A missense_variant E620K 1858G>A BLCA-US 3 39135477 39135477 single base substitution G A missense_variant E62K 184G>A BLCA-US 3 39135489 39135489 single base substitution G A 3_prime_UTR_variant BLCA-US 3 39135489 39135489 single base substitution G A downstream_gene_variant BLCA-US 3 39135489 39135489 single base substitution G A exon_variant BLCA-US 3 39135489 39135489 single base substitution G A missense_variant E349K 1045G>A BLCA-US 3 39135489 39135489 single base substitution G A missense_variant E542K 1624G>A BLCA-US 3 39135489 39135489 single base substitution G A missense_variant E624K 1870G>A BLCA-US 3 39135489 39135489 single base substitution G A missense_variant E66K 196G>A BLCA-US 3 39139937 39139937 single base substitution C T downstream_gene_variant BRCA-EU 3 39089226 39089226 single base substitution C G upstream_gene_variant BRCA-EU 3 39089724 39089724 single base substitution G C upstream_gene_variant BRCA-EU 3 39094249 39094249 single base substitution C G intron_variant BRCA-EU 3 39095448 39095448 single base substitution G T intron_variant BRCA-EU 3 39095653 39095653 single base substitution T C intron_variant BRCA-EU 3 39095958 39095958 single base substitution G C intron_variant BRCA-EU 3 39097006 39097006 single base substitution G C intron_variant BRCA-EU 3 39102694 39102694 single base substitution A G intron_variant BRCA-EU 3 39103903 39103903 single base substitution A G intron_variant BRCA-EU 3 39104059 39104059 single base substitution G A intron_variant BRCA-EU 3 39104520 39104520 single base substitution A G intron_variant BRCA-EU 3 39105646 39105646 deletion of <=200bp A - intron_variant BRCA-EU 3 39106825 39106835 deletion of <=200bp GAAGTGTTTAT - intron_variant BRCA-EU 3 39107142 39107142 single base substitution G C intron_variant BRCA-EU 3 39108141 39108141 single base substitution A C intron_variant BRCA-EU 3 39108918 39108918 single base substitution G A intron_variant BRCA-EU 3 39109801 39109801 single base substitution G C intron_variant BRCA-EU 3 39110009 39110009 single base substitution A C intron_variant BRCA-EU 3 39110055 39110055 single base substitution G A intron_variant BRCA-EU 3 39110345 39110345 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 39110345 39110345 single base substitution G A 5_prime_UTR_variant BRCA-EU 3 39110345 39110345 single base substitution G A downstream_gene_variant BRCA-EU 3 39110345 39110345 single base substitution G A intron_variant BRCA-EU 3 39110345 39110345 single base substitution G A missense_variant E107K 319G>A BRCA-EU 3 39110345 39110345 single base substitution G A missense_variant E119K 355G>A BRCA-EU 3 39110345 39110345 single base substitution G A missense_variant E189K 565G>A BRCA-EU 3 39111452 39111452 single base substitution C G downstream_gene_variant BRCA-EU 3 39111452 39111452 single base substitution C G intron_variant BRCA-EU 3 39112601 39112601 single base substitution A C downstream_gene_variant BRCA-EU 3 39112601 39112601 single base substitution A C intron_variant BRCA-EU 3 39112623 39112623 single base substitution G A downstream_gene_variant BRCA-EU 3 39112623 39112623 single base substitution G A intron_variant BRCA-EU 3 39112779 39112779 single base substitution T C downstream_gene_variant BRCA-EU 3 39112779 39112779 single base substitution T C intron_variant BRCA-EU 3 39115573 39115573 single base substitution G A downstream_gene_variant BRCA-EU 3 39115573 39115573 single base substitution G A intron_variant BRCA-EU 3 39115573 39115573 single base substitution G A upstream_gene_variant BRCA-EU 3 39115958 39115958 single base substitution C T downstream_gene_variant BRCA-EU 3 39115958 39115958 single base substitution C T intron_variant BRCA-EU 3 39115958 39115958 single base substitution C T upstream_gene_variant BRCA-EU 3 39116361 39116361 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 39116361 39116361 single base substitution G C 5_prime_UTR_variant BRCA-EU 3 39116361 39116361 single base substitution G C downstream_gene_variant BRCA-EU 3 39116361 39116361 single base substitution G C missense_variant D191H 571G>C BRCA-EU 3 39116361 39116361 single base substitution G C missense_variant D273H 817G>C BRCA-EU 3 39116361 39116361 single base substitution G C missense_variant D65H 193G>C BRCA-EU 3 39116361 39116361 single base substitution G C upstream_gene_variant BRCA-EU 3 39116866 39116866 single base substitution G C downstream_gene_variant BRCA-EU 3 39116866 39116866 single base substitution G C intron_variant BRCA-EU 3 39116866 39116866 single base substitution G C upstream_gene_variant BRCA-EU 3 39117352 39117352 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 39117352 39117352 deletion of <=200bp T - intron_variant BRCA-EU 3 39117352 39117352 deletion of <=200bp T - upstream_gene_variant BRCA-EU 3 39120422 39120422 single base substitution G A downstream_gene_variant BRCA-EU 3 39120422 39120422 single base substitution G A intron_variant BRCA-EU 3 39121044 39121044 single base substitution G A downstream_gene_variant BRCA-EU 3 39121044 39121044 single base substitution G A intron_variant BRCA-EU 3 39121128 39121128 single base substitution T G downstream_gene_variant BRCA-EU 3 39121128 39121128 single base substitution T G intron_variant BRCA-EU 3 39121337 39121337 single base substitution T G intron_variant BRCA-EU 3 39124422 39124422 single base substitution C A intron_variant BRCA-EU 3 39124422 39124422 single base substitution C A upstream_gene_variant BRCA-EU 3 39124705 39124705 single base substitution G A intron_variant BRCA-EU 3 39124705 39124705 single base substitution G A upstream_gene_variant BRCA-EU 3 39126035 39126049 deletion of <=200bp GACTTAGCACTTTAG - downstream_gene_variant BRCA-EU 3 39126035 39126049 deletion of <=200bp GACTTAGCACTTTAG - intron_variant BRCA-EU 3 39126035 39126049 deletion of <=200bp GACTTAGCACTTTAG - upstream_gene_variant BRCA-EU 3 39126965 39126965 single base substitution C T downstream_gene_variant BRCA-EU 3 39126965 39126965 single base substitution C T intron_variant BRCA-EU 3 39126965 39126965 single base substitution C T upstream_gene_variant BRCA-EU 3 39127304 39127304 single base substitution A G downstream_gene_variant BRCA-EU 3 39127304 39127304 single base substitution A G intron_variant BRCA-EU 3 39127304 39127304 single base substitution A G upstream_gene_variant BRCA-EU 3 39127562 39127562 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 39127562 39127562 deletion of <=200bp A - intron_variant BRCA-EU 3 39127562 39127562 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 39127629 39127629 single base substitution G A downstream_gene_variant BRCA-EU 3 39127629 39127629 single base substitution G A intron_variant BRCA-EU 3 39127629 39127629 single base substitution G A upstream_gene_variant BRCA-EU 3 39127886 39127886 single base substitution C T downstream_gene_variant BRCA-EU 3 39127886 39127886 single base substitution C T intron_variant BRCA-EU 3 39127886 39127886 single base substitution C T upstream_gene_variant BRCA-EU 3 39128737 39128737 single base substitution G C downstream_gene_variant BRCA-EU 3 39128737 39128737 single base substitution G C intron_variant BRCA-EU 3 39128737 39128737 single base substitution G C upstream_gene_variant BRCA-EU 3 39129020 39129020 single base substitution G A downstream_gene_variant BRCA-EU 3 39129020 39129020 single base substitution G A intron_variant BRCA-EU 3 39129020 39129020 single base substitution G A upstream_gene_variant BRCA-EU 3 39129857 39129857 single base substitution A C downstream_gene_variant BRCA-EU 3 39129857 39129857 single base substitution A C intron_variant BRCA-EU 3 39129857 39129857 single base substitution A C upstream_gene_variant BRCA-EU 3 39129944 39129944 single base substitution G A downstream_gene_variant BRCA-EU 3 39129944 39129944 single base substitution G A intron_variant BRCA-EU 3 39129944 39129944 single base substitution G A upstream_gene_variant BRCA-EU 3 39130940 39130940 single base substitution T G downstream_gene_variant BRCA-EU 3 39130940 39130940 single base substitution T G intron_variant BRCA-EU 3 39130940 39130940 single base substitution T G upstream_gene_variant BRCA-EU 3 39134073 39134073 single base substitution G C downstream_gene_variant BRCA-EU 3 39134073 39134073 single base substitution G C intron_variant BRCA-EU 3 39136225 39136225 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 39136225 39136225 single base substitution G C downstream_gene_variant BRCA-EU 3 39136225 39136225 single base substitution G C exon_variant BRCA-EU 3 39136225 39136225 single base substitution G C missense_variant K119N 357G>C BRCA-EU 3 39136225 39136225 single base substitution G C missense_variant K400N 1200G>C BRCA-EU 3 39136225 39136225 single base substitution G C missense_variant K593N 1779G>C BRCA-EU 3 39136225 39136225 single base substitution G C missense_variant K675N 2025G>C BRCA-EU 3 39136389 39136389 single base substitution G T 3_prime_UTR_variant BRCA-EU 3 39136389 39136389 single base substitution G T downstream_gene_variant BRCA-EU 3 39136389 39136389 single base substitution G T exon_variant BRCA-EU 3 39136704 39136704 deletion of <=200bp G - 3_prime_UTR_variant BRCA-EU 3 39136704 39136704 deletion of <=200bp G - downstream_gene_variant BRCA-EU 3 39136704 39136704 deletion of <=200bp G - exon_variant BRCA-EU 3 39136949 39136949 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 39136949 39136949 single base substitution G C downstream_gene_variant BRCA-EU 3 39136949 39136949 single base substitution G C exon_variant BRCA-EU 3 39136949 39136949 single base substitution G C intron_variant BRCA-EU 3 39138915 39138915 single base substitution A G downstream_gene_variant BRCA-EU 3 39139603 39139603 single base substitution C T downstream_gene_variant BRCA-FR 3 39095958 39095958 single base substitution G C intron_variant BRCA-FR 3 39097265 39097265 single base substitution G A intron_variant BRCA-FR 3 39104520 39104520 single base substitution A G intron_variant BRCA-FR 3 39111452 39111452 single base substitution C G downstream_gene_variant BRCA-FR 3 39111452 39111452 single base substitution C G intron_variant BRCA-FR 3 39115573 39115573 single base substitution G A downstream_gene_variant BRCA-FR 3 39115573 39115573 single base substitution G A intron_variant BRCA-FR 3 39115573 39115573 single base substitution G A upstream_gene_variant BRCA-FR 3 39116361 39116361 single base substitution G C 3_prime_UTR_variant BRCA-FR 3 39116361 39116361 single base substitution G C 5_prime_UTR_variant BRCA-FR 3 39116361 39116361 single base substitution G C downstream_gene_variant BRCA-FR 3 39116361 39116361 single base substitution G C missense_variant D191H 571G>C BRCA-FR 3 39116361 39116361 single base substitution G C missense_variant D273H 817G>C BRCA-FR 3 39116361 39116361 single base substitution G C missense_variant D65H 193G>C BRCA-FR 3 39116361 39116361 single base substitution G C upstream_gene_variant BRCA-FR 3 39120422 39120422 single base substitution G A downstream_gene_variant BRCA-FR 3 39120422 39120422 single base substitution G A intron_variant BRCA-FR 3 39125071 39125071 single base substitution G A intron_variant BRCA-FR 3 39125071 39125071 single base substitution G A upstream_gene_variant BRCA-FR 3 39136225 39136225 single base substitution G C 3_prime_UTR_variant BRCA-FR 3 39136225 39136225 single base substitution G C downstream_gene_variant BRCA-FR 3 39136225 39136225 single base substitution G C exon_variant BRCA-FR 3 39136225 39136225 single base substitution G C missense_variant K119N 357G>C BRCA-FR 3 39136225 39136225 single base substitution G C missense_variant K400N 1200G>C BRCA-FR 3 39136225 39136225 single base substitution G C missense_variant K593N 1779G>C BRCA-FR 3 39136225 39136225 single base substitution G C missense_variant K675N 2025G>C BRCA-FR 3 39139603 39139603 single base substitution C T downstream_gene_variant BRCA-UK 3 39103903 39103903 single base substitution A G intron_variant BRCA-UK 3 39129857 39129857 single base substitution A C downstream_gene_variant BRCA-UK 3 39129857 39129857 single base substitution A C intron_variant BRCA-UK 3 39129857 39129857 single base substitution A C upstream_gene_variant BRCA-UK 3 39132715 39132715 single base substitution G A downstream_gene_variant BRCA-UK 3 39132715 39132715 single base substitution G A exon_variant BRCA-UK 3 39132715 39132715 single base substitution G A intron_variant BRCA-US 3 39118666 39118666 single base substitution A G 3_prime_UTR_variant BRCA-US 3 39118666 39118666 single base substitution A G 5_prime_UTR_variant BRCA-US 3 39118666 39118666 single base substitution A G downstream_gene_variant BRCA-US 3 39118666 39118666 single base substitution A G missense_variant I104V 310A>G BRCA-US 3 39118666 39118666 single base substitution A G missense_variant I230V 688A>G BRCA-US 3 39118666 39118666 single base substitution A G missense_variant I312V 934A>G BRCA-US 3 39118666 39118666 single base substitution A G upstream_gene_variant BRCA-US 3 39136217 39136217 single base substitution C T 3_prime_UTR_variant BRCA-US 3 39136217 39136217 single base substitution C T downstream_gene_variant BRCA-US 3 39136217 39136217 single base substitution C T exon_variant BRCA-US 3 39136217 39136217 single base substitution C T missense_variant R117C 349C>T BRCA-US 3 39136217 39136217 single base substitution C T missense_variant R398C 1192C>T BRCA-US 3 39136217 39136217 single base substitution C T missense_variant R591C 1771C>T BRCA-US 3 39136217 39136217 single base substitution C T missense_variant R673C 2017C>T BRCA-US 3 39140303 39140303 single base substitution A G downstream_gene_variant BTCA-JP 3 39121185 39121185 deletion of <=200bp T - downstream_gene_variant BTCA-JP 3 39121185 39121185 deletion of <=200bp T - intron_variant BTCA-JP 3 39121185 39121185 insertion of <=200bp - T downstream_gene_variant BTCA-JP 3 39121185 39121185 insertion of <=200bp - T intron_variant BTCA-JP 3 39127061 39127061 insertion of <=200bp - TG 3_prime_UTR_variant BTCA-JP 3 39127061 39127061 insertion of <=200bp - TG 5_prime_UTR_variant BTCA-JP 3 39127061 39127061 insertion of <=200bp - TG downstream_gene_variant BTCA-JP 3 39127061 39127061 insertion of <=200bp - TG exon_variant BTCA-JP 3 39127061 39127061 insertion of <=200bp - TG frameshift_variant H203H? BTCA-JP 3 39127061 39127061 insertion of <=200bp - TG frameshift_variant H396H? BTCA-JP 3 39127061 39127061 insertion of <=200bp - TG frameshift_variant H478H? BTCA-JP 3 39127061 39127061 insertion of <=200bp - TG upstream_gene_variant BTCA-JP 3 39133187 39133187 deletion of <=200bp A - 3_prime_UTR_variant BTCA-JP 3 39133187 39133187 deletion of <=200bp A - downstream_gene_variant BTCA-JP 3 39133187 39133187 deletion of <=200bp A - exon_variant BTCA-JP 3 39133187 39133187 deletion of <=200bp A - frameshift_variant L22 BTCA-JP 3 39133187 39133187 deletion of <=200bp A - frameshift_variant L305 BTCA-JP 3 39133187 39133187 deletion of <=200bp A - frameshift_variant L498 BTCA-JP 3 39133187 39133187 deletion of <=200bp A - frameshift_variant L580 BTCA-JP 3 39142660 39142660 deletion of <=200bp G - downstream_gene_variant CESC-US 3 39116328 39116328 single base substitution G A 3_prime_UTR_variant CESC-US 3 39116328 39116328 single base substitution G A 5_prime_UTR_variant CESC-US 3 39116328 39116328 single base substitution G A downstream_gene_variant CESC-US 3 39116328 39116328 single base substitution G A missense_variant D180N 538G>A CESC-US 3 39116328 39116328 single base substitution G A missense_variant D262N 784G>A CESC-US 3 39116328 39116328 single base substitution G A missense_variant D54N 160G>A CESC-US 3 39116328 39116328 single base substitution G A upstream_gene_variant CESC-US 3 39125682 39125682 single base substitution G A 3_prime_UTR_variant CESC-US 3 39125682 39125682 single base substitution G A 5_prime_UTR_variant CESC-US 3 39125682 39125682 single base substitution G A downstream_gene_variant CESC-US 3 39125682 39125682 single base substitution G A exon_variant CESC-US 3 39125682 39125682 single base substitution G A missense_variant E129K 385G>A CESC-US 3 39125682 39125682 single base substitution G A missense_variant E322K 964G>A CESC-US 3 39125682 39125682 single base substitution G A missense_variant E404K 1210G>A CESC-US 3 39125682 39125682 single base substitution G A upstream_gene_variant CESC-US 3 39133113 39133113 single base substitution C T exon_variant CESC-US 3 39133113 39133113 single base substitution C T intron_variant CESC-US 3 39133113 39133113 single base substitution C T splice_region_variant CESC-US 3 39136444 39136444 single base substitution G C 3_prime_UTR_variant CESC-US 3 39136444 39136444 single base substitution G C downstream_gene_variant CESC-US 3 39136444 39136444 single base substitution G C exon_variant CLLE-ES 3 39097597 39097597 single base substitution T A intron_variant CLLE-ES 3 39121349 39121349 single base substitution T G intron_variant COAD-US 3 39104575 39104575 single base substitution A G 5_prime_UTR_variant COAD-US 3 39104575 39104575 single base substitution A G exon_variant COAD-US 3 39104575 39104575 single base substitution A G intron_variant COAD-US 3 39104575 39104575 single base substitution A G missense_variant Y28C 83A>G COAD-US 3 39111231 39111231 single base substitution C T 3_prime_UTR_variant COAD-US 3 39111231 39111231 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant COAD-US 3 39111231 39111231 single base substitution C T downstream_gene_variant COAD-US 3 39111231 39111231 single base substitution C T intron_variant COAD-US 3 39111231 39111231 single base substitution C T missense_variant T141M 422C>T COAD-US 3 39111231 39111231 single base substitution C T missense_variant T153M 458C>T COAD-US 3 39111231 39111231 single base substitution C T missense_variant T223M 668C>T COAD-US 3 39111232 39111232 single base substitution G A 3_prime_UTR_variant COAD-US 3 39111232 39111232 single base substitution G A 5_prime_UTR_variant COAD-US 3 39111232 39111232 single base substitution G A downstream_gene_variant COAD-US 3 39111232 39111232 single base substitution G A intron_variant COAD-US 3 39111232 39111232 single base substitution G A synonymous_variant T141T 423G>A COAD-US 3 39111232 39111232 single base substitution G A synonymous_variant T153T 459G>A COAD-US 3 39111232 39111232 single base substitution G A synonymous_variant T223T 669G>A COAD-US 3 39133129 39133129 single base substitution A G 3_prime_UTR_variant COAD-US 3 39133129 39133129 single base substitution A G exon_variant COAD-US 3 39133129 39133129 single base substitution A G missense_variant K286R 857A>G COAD-US 3 39133129 39133129 single base substitution A G missense_variant K3R 8A>G COAD-US 3 39133129 39133129 single base substitution A G missense_variant K479R 1436A>G COAD-US 3 39133129 39133129 single base substitution A G missense_variant K561R 1682A>G COAD-US 3 39141928 39141928 single base substitution C A downstream_gene_variant COAD-US 3 39142553 39142553 single base substitution C T downstream_gene_variant COAD-US 3 39142591 39142591 single base substitution A C downstream_gene_variant COCA-CN 3 39108233 39108233 single base substitution A G exon_variant COCA-CN 3 39108233 39108233 single base substitution A G intron_variant COCA-CN 3 39108233 39108233 single base substitution A G splice_region_variant COCA-CN 3 39111106 39111106 single base substitution T G downstream_gene_variant COCA-CN 3 39111106 39111106 single base substitution T G intron_variant COCA-CN 3 39111357 39111357 single base substitution A C downstream_gene_variant COCA-CN 3 39111357 39111357 single base substitution A C intron_variant COCA-CN 3 39116205 39116205 single base substitution C A intron_variant COCA-CN 3 39116205 39116205 single base substitution C A upstream_gene_variant COCA-CN 3 39118537 39118537 single base substitution G A downstream_gene_variant COCA-CN 3 39118537 39118537 single base substitution G A intron_variant COCA-CN 3 39118537 39118537 single base substitution G A upstream_gene_variant COCA-CN 3 39125801 39125801 single base substitution T G downstream_gene_variant COCA-CN 3 39125801 39125801 single base substitution T G intron_variant COCA-CN 3 39125801 39125801 single base substitution T G upstream_gene_variant COCA-CN 3 39130793 39130793 single base substitution T C 3_prime_UTR_variant COCA-CN 3 39130793 39130793 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant COCA-CN 3 39130793 39130793 single base substitution T C downstream_gene_variant COCA-CN 3 39130793 39130793 single base substitution T C exon_variant COCA-CN 3 39130793 39130793 single base substitution T C missense_variant I276T 827T>C COCA-CN 3 39130793 39130793 single base substitution T C missense_variant I469T 1406T>C COCA-CN 3 39130793 39130793 single base substitution T C missense_variant I551T 1652T>C COCA-CN 3 39130793 39130793 single base substitution T C upstream_gene_variant COCA-CN 3 39136023 39136023 single base substitution C T downstream_gene_variant COCA-CN 3 39136023 39136023 single base substitution C T exon_variant COCA-CN 3 39136023 39136023 single base substitution C T intron_variant COCA-CN 3 39140274 39140274 single base substitution G A downstream_gene_variant COCA-CN 3 39142231 39142231 single base substitution G A downstream_gene_variant COCA-CN 3 39142445 39142445 single base substitution G A downstream_gene_variant COCA-CN 3 39142566 39142566 single base substitution G T downstream_gene_variant EOPC-DE 3 39116314 39116314 single base substitution C T 3_prime_UTR_variant EOPC-DE 3 39116314 39116314 single base substitution C T 5_prime_UTR_variant EOPC-DE 3 39116314 39116314 single base substitution C T downstream_gene_variant EOPC-DE 3 39116314 39116314 single base substitution C T missense_variant A175V 524C>T EOPC-DE 3 39116314 39116314 single base substitution C T missense_variant A257V 770C>T EOPC-DE 3 39116314 39116314 single base substitution C T missense_variant A49V 146C>T EOPC-DE 3 39116314 39116314 single base substitution C T upstream_gene_variant ESAD-UK 3 39089736 39089736 single base substitution T C upstream_gene_variant ESAD-UK 3 39091591 39091591 single base substitution C T upstream_gene_variant ESAD-UK 3 39096500 39096500 single base substitution T A intron_variant ESAD-UK 3 39100387 39100387 single base substitution G A intron_variant ESAD-UK 3 39101897 39101898 deletion of <=200bp GT - intron_variant ESAD-UK 3 39108060 39108060 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 39108060 39108060 single base substitution C T exon_variant ESAD-UK 3 39108060 39108060 single base substitution C T intron_variant ESAD-UK 3 39108060 39108060 single base substitution C T missense_variant T15M 44C>T ESAD-UK 3 39108060 39108060 single base substitution C T missense_variant T27M 80C>T ESAD-UK 3 39108060 39108060 single base substitution C T missense_variant T97M 290C>T ESAD-UK 3 39108060 39108060 single base substitution C T splice_region_variant ESAD-UK 3 39108754 39108754 single base substitution G A intron_variant ESAD-UK 3 39109845 39109845 single base substitution A G intron_variant ESAD-UK 3 39113361 39113361 single base substitution A G downstream_gene_variant ESAD-UK 3 39113361 39113361 single base substitution A G intron_variant ESAD-UK 3 39114216 39114216 single base substitution G A downstream_gene_variant ESAD-UK 3 39114216 39114216 single base substitution G A intron_variant ESAD-UK 3 39118588 39118588 single base substitution G A downstream_gene_variant ESAD-UK 3 39118588 39118588 single base substitution G A intron_variant ESAD-UK 3 39118588 39118588 single base substitution G A upstream_gene_variant ESAD-UK 3 39121314 39121314 single base substitution T G intron_variant ESAD-UK 3 39121401 39121401 single base substitution G A intron_variant ESAD-UK 3 39122861 39122861 single base substitution G T intron_variant ESAD-UK 3 39124710 39124710 single base substitution G T intron_variant ESAD-UK 3 39124710 39124710 single base substitution G T upstream_gene_variant ESAD-UK 3 39128724 39128724 single base substitution A G downstream_gene_variant ESAD-UK 3 39128724 39128724 single base substitution A G intron_variant ESAD-UK 3 39128724 39128724 single base substitution A G upstream_gene_variant ESAD-UK 3 39130501 39130501 single base substitution A G downstream_gene_variant ESAD-UK 3 39130501 39130501 single base substitution A G intron_variant ESAD-UK 3 39130501 39130501 single base substitution A G upstream_gene_variant ESAD-UK 3 39134139 39134139 single base substitution A C downstream_gene_variant ESAD-UK 3 39134139 39134139 single base substitution A C intron_variant ESAD-UK 3 39135417 39135417 single base substitution G A 3_prime_UTR_variant ESAD-UK 3 39135417 39135417 single base substitution G A downstream_gene_variant ESAD-UK 3 39135417 39135417 single base substitution G A exon_variant ESAD-UK 3 39135417 39135417 single base substitution G A missense_variant V325I 973G>A ESAD-UK 3 39135417 39135417 single base substitution G A missense_variant V42I 124G>A ESAD-UK 3 39135417 39135417 single base substitution G A missense_variant V518I 1552G>A ESAD-UK 3 39135417 39135417 single base substitution G A missense_variant V600I 1798G>A ESAD-UK 3 39138022 39138022 insertion of <=200bp - CCCA 3_prime_UTR_variant ESAD-UK 3 39138022 39138022 insertion of <=200bp - CCCA downstream_gene_variant ESAD-UK 3 39138022 39138022 insertion of <=200bp - CCCA exon_variant ESAD-UK 3 39141669 39141669 single base substitution C T downstream_gene_variant ESAD-UK 3 39142110 39142110 single base substitution G A downstream_gene_variant ESCA-CN 3 39133085 39133085 single base substitution T G exon_variant ESCA-CN 3 39133085 39133085 single base substitution T G intron_variant GBM-US 3 39126186 39126186 single base substitution T G 3_prime_UTR_variant GBM-US 3 39126186 39126186 single base substitution T G 5_prime_UTR_variant GBM-US 3 39126186 39126186 single base substitution T G downstream_gene_variant GBM-US 3 39126186 39126186 single base substitution T G exon_variant GBM-US 3 39126186 39126186 single base substitution T G synonymous_variant S169S 507T>G GBM-US 3 39126186 39126186 single base substitution T G synonymous_variant S362S 1086T>G GBM-US 3 39126186 39126186 single base substitution T G synonymous_variant S444S 1332T>G GBM-US 3 39126186 39126186 single base substitution T G upstream_gene_variant KIRC-US 3 39108073 39108073 single base substitution A T 3_prime_UTR_variant KIRC-US 3 39108073 39108073 single base substitution A T 5_prime_UTR_premature_start_codon_gain_variant KIRC-US 3 39108073 39108073 single base substitution A T exon_variant KIRC-US 3 39108073 39108073 single base substitution A T intron_variant KIRC-US 3 39108073 39108073 single base substitution A T synonymous_variant V101V 303A>T KIRC-US 3 39108073 39108073 single base substitution A T synonymous_variant V19V 57A>T KIRC-US 3 39108073 39108073 single base substitution A T synonymous_variant V31V 93A>T LAML-KR 3 39107198 39107198 single base substitution C A intron_variant LAML-KR 3 39118499 39118499 single base substitution T C downstream_gene_variant LAML-KR 3 39118499 39118499 single base substitution T C intron_variant LAML-KR 3 39118499 39118499 single base substitution T C upstream_gene_variant LICA-CN 3 39127022 39127022 single base substitution T A 3_prime_UTR_variant LICA-CN 3 39127022 39127022 single base substitution T A 5_prime_UTR_variant LICA-CN 3 39127022 39127022 single base substitution T A downstream_gene_variant LICA-CN 3 39127022 39127022 single base substitution T A exon_variant LICA-CN 3 39127022 39127022 single base substitution T A synonymous_variant L190L 570T>A LICA-CN 3 39127022 39127022 single base substitution T A synonymous_variant L383L 1149T>A LICA-CN 3 39127022 39127022 single base substitution T A synonymous_variant L465L 1395T>A LICA-CN 3 39127022 39127022 single base substitution T A upstream_gene_variant LICA-FR 3 39103362 39103362 single base substitution T C intron_variant LICA-FR 3 39116290 39116290 single base substitution G T 3_prime_UTR_variant LICA-FR 3 39116290 39116290 single base substitution G T 5_prime_UTR_variant LICA-FR 3 39116290 39116290 single base substitution G T downstream_gene_variant LICA-FR 3 39116290 39116290 single base substitution G T missense_variant R167L 500G>T LICA-FR 3 39116290 39116290 single base substitution G T missense_variant R249L 746G>T LICA-FR 3 39116290 39116290 single base substitution G T missense_variant R41L 122G>T LICA-FR 3 39116290 39116290 single base substitution G T upstream_gene_variant LIHC-US 3 39140363 39140363 single base substitution A G downstream_gene_variant LINC-JP 3 39093392 39093392 single base substitution C A upstream_gene_variant LINC-JP 3 39104948 39104948 single base substitution T C intron_variant LINC-JP 3 39105034 39105034 single base substitution A G intron_variant LINC-JP 3 39120961 39120961 single base substitution T C downstream_gene_variant LINC-JP 3 39120961 39120961 single base substitution T C intron_variant LINC-JP 3 39121013 39121013 single base substitution A G downstream_gene_variant LINC-JP 3 39121013 39121013 single base substitution A G intron_variant LINC-JP 3 39121049 39121049 single base substitution A C downstream_gene_variant LINC-JP 3 39121049 39121049 single base substitution A C intron_variant LINC-JP 3 39129598 39129598 single base substitution A G downstream_gene_variant LINC-JP 3 39129598 39129598 single base substitution A G exon_variant LINC-JP 3 39129598 39129598 single base substitution A G intron_variant LINC-JP 3 39129598 39129598 single base substitution A G upstream_gene_variant LINC-JP 3 39138628 39138628 single base substitution G C downstream_gene_variant LINC-JP 3 39142301 39142301 single base substitution G T downstream_gene_variant LINC-JP 3 39142628 39142628 single base substitution C T downstream_gene_variant LINC-JP 3 39142775 39142775 single base substitution C T downstream_gene_variant LIRI-JP 3 39088842 39088842 single base substitution C T upstream_gene_variant LIRI-JP 3 39092126 39092126 single base substitution T C upstream_gene_variant LIRI-JP 3 39092641 39092641 single base substitution G T upstream_gene_variant LIRI-JP 3 39093163 39093163 single base substitution T A upstream_gene_variant LIRI-JP 3 39093407 39093407 single base substitution G A upstream_gene_variant LIRI-JP 3 39094220 39094220 single base substitution A G intron_variant LIRI-JP 3 39094267 39094267 single base substitution T A intron_variant LIRI-JP 3 39095303 39095303 single base substitution G C intron_variant LIRI-JP 3 39097031 39097031 single base substitution A G intron_variant LIRI-JP 3 39098519 39098519 single base substitution A G intron_variant LIRI-JP 3 39099628 39099628 single base substitution G T intron_variant LIRI-JP 3 39100541 39100541 single base substitution G T intron_variant LIRI-JP 3 39101742 39101742 single base substitution C T intron_variant LIRI-JP 3 39102701 39102701 single base substitution A G intron_variant LIRI-JP 3 39105071 39105071 single base substitution A G intron_variant LIRI-JP 3 39105308 39105308 single base substitution A G intron_variant LIRI-JP 3 39105687 39105687 single base substitution G A intron_variant LIRI-JP 3 39107403 39107403 single base substitution A G intron_variant LIRI-JP 3 39107679 39107679 single base substitution T A intron_variant LIRI-JP 3 39108288 39108288 single base substitution G T 3_prime_UTR_variant LIRI-JP 3 39108288 39108288 single base substitution G T 5_prime_UTR_variant LIRI-JP 3 39108288 39108288 single base substitution G T intron_variant LIRI-JP 3 39108288 39108288 single base substitution G T missense_variant A135S 403G>T LIRI-JP 3 39108288 39108288 single base substitution G T missense_variant A53S 157G>T LIRI-JP 3 39108288 39108288 single base substitution G T missense_variant A65S 193G>T LIRI-JP 3 39109649 39109649 single base substitution T G intron_variant LIRI-JP 3 39110842 39110842 single base substitution A G downstream_gene_variant LIRI-JP 3 39110842 39110842 single base substitution A G intron_variant LIRI-JP 3 39111641 39111641 single base substitution A G downstream_gene_variant LIRI-JP 3 39111641 39111641 single base substitution A G intron_variant LIRI-JP 3 39112408 39112408 single base substitution G C downstream_gene_variant LIRI-JP 3 39112408 39112408 single base substitution G C intron_variant LIRI-JP 3 39114904 39114904 single base substitution A C downstream_gene_variant LIRI-JP 3 39114904 39114904 single base substitution A C intron_variant LIRI-JP 3 39114904 39114904 single base substitution A C upstream_gene_variant LIRI-JP 3 39117532 39117532 single base substitution C T downstream_gene_variant LIRI-JP 3 39117532 39117532 single base substitution C T intron_variant LIRI-JP 3 39117532 39117532 single base substitution C T upstream_gene_variant LIRI-JP 3 39121324 39121324 single base substitution A G intron_variant LIRI-JP 3 39123242 39123242 single base substitution T A intron_variant LIRI-JP 3 39124410 39124410 single base substitution A T intron_variant LIRI-JP 3 39124410 39124410 single base substitution A T upstream_gene_variant LIRI-JP 3 39126235 39126235 single base substitution G T downstream_gene_variant LIRI-JP 3 39126235 39126235 single base substitution G T splice_region_variant LIRI-JP 3 39126235 39126235 single base substitution G T upstream_gene_variant LIRI-JP 3 39127004 39127004 single base substitution A T downstream_gene_variant LIRI-JP 3 39127004 39127004 single base substitution A T splice_acceptor_variant LIRI-JP 3 39127004 39127004 single base substitution A T upstream_gene_variant LIRI-JP 3 39129628 39129628 deletion of <=200bp A - 3_prime_UTR_variant LIRI-JP 3 39129628 39129628 deletion of <=200bp A - 5_prime_UTR_variant LIRI-JP 3 39129628 39129628 deletion of <=200bp A - downstream_gene_variant LIRI-JP 3 39129628 39129628 deletion of <=200bp A - exon_variant LIRI-JP 3 39129628 39129628 deletion of <=200bp A - frameshift_variant E220 LIRI-JP 3 39129628 39129628 deletion of <=200bp A - frameshift_variant E413 LIRI-JP 3 39129628 39129628 deletion of <=200bp A - frameshift_variant E495 LIRI-JP 3 39129628 39129628 deletion of <=200bp A - upstream_gene_variant LIRI-JP 3 39130636 39130636 single base substitution G T downstream_gene_variant LIRI-JP 3 39130636 39130636 single base substitution G T intron_variant LIRI-JP 3 39130636 39130636 single base substitution G T upstream_gene_variant LIRI-JP 3 39133077 39133077 single base substitution A G exon_variant LIRI-JP 3 39133077 39133077 single base substitution A G intron_variant LIRI-JP 3 39134733 39134733 single base substitution G T downstream_gene_variant LIRI-JP 3 39134733 39134733 single base substitution G T intron_variant LIRI-JP 3 39137090 39137090 single base substitution T A 3_prime_UTR_variant LIRI-JP 3 39137090 39137090 single base substitution T A downstream_gene_variant LIRI-JP 3 39137090 39137090 single base substitution T A exon_variant LIRI-JP 3 39137105 39137105 single base substitution A C 3_prime_UTR_variant LIRI-JP 3 39137105 39137105 single base substitution A C downstream_gene_variant LIRI-JP 3 39137105 39137105 single base substitution A C exon_variant LIRI-JP 3 39138219 39138219 single base substitution A G downstream_gene_variant LIRI-JP 3 39140967 39140967 single base substitution T C downstream_gene_variant LIRI-JP 3 39141132 39141132 single base substitution A T downstream_gene_variant LIRI-JP 3 39142252 39142252 single base substitution C T downstream_gene_variant LUSC-KR 3 39094329 39094329 single base substitution A T intron_variant LUSC-KR 3 39095326 39095326 single base substitution A G intron_variant LUSC-KR 3 39095328 39095328 single base substitution G T intron_variant LUSC-KR 3 39100049 39100049 single base substitution T C intron_variant LUSC-KR 3 39123765 39123765 single base substitution G C intron_variant LUSC-KR 3 39129640 39129640 single base substitution G A 3_prime_UTR_variant LUSC-KR 3 39129640 39129640 single base substitution G A 5_prime_UTR_variant LUSC-KR 3 39129640 39129640 single base substitution G A downstream_gene_variant LUSC-KR 3 39129640 39129640 single base substitution G A exon_variant LUSC-KR 3 39129640 39129640 single base substitution G A missense_variant R224Q 671G>A LUSC-KR 3 39129640 39129640 single base substitution G A missense_variant R417Q 1250G>A LUSC-KR 3 39129640 39129640 single base substitution G A missense_variant R499Q 1496G>A LUSC-KR 3 39129640 39129640 single base substitution G A upstream_gene_variant LUSC-KR 3 39141101 39141101 single base substitution G T downstream_gene_variant LUSC-US 3 39136189 39136189 single base substitution G C 3_prime_UTR_variant LUSC-US 3 39136189 39136189 single base substitution G C downstream_gene_variant LUSC-US 3 39136189 39136189 single base substitution G C exon_variant LUSC-US 3 39136189 39136189 single base substitution G C missense_variant K107N 321G>C LUSC-US 3 39136189 39136189 single base substitution G C missense_variant K388N 1164G>C LUSC-US 3 39136189 39136189 single base substitution G C missense_variant K581N 1743G>C LUSC-US 3 39136189 39136189 single base substitution G C missense_variant K663N 1989G>C LUSC-US 3 39141908 39141908 single base substitution G A downstream_gene_variant MALY-DE 3 39101403 39101403 single base substitution A T intron_variant MALY-DE 3 39110769 39110769 single base substitution G A downstream_gene_variant MALY-DE 3 39110769 39110769 single base substitution G A intron_variant MALY-DE 3 39110889 39110889 single base substitution A G downstream_gene_variant MALY-DE 3 39110889 39110889 single base substitution A G intron_variant MALY-DE 3 39114978 39114978 single base substitution C T downstream_gene_variant MALY-DE 3 39114978 39114978 single base substitution C T intron_variant MALY-DE 3 39114978 39114978 single base substitution C T upstream_gene_variant MALY-DE 3 39121307 39121307 deletion of <=200bp T - intron_variant MALY-DE 3 39121307 39121307 deletion of <=200bp T - splice_region_variant MALY-DE 3 39129438 39129438 single base substitution G A downstream_gene_variant MALY-DE 3 39129438 39129438 single base substitution G A exon_variant MALY-DE 3 39129438 39129438 single base substitution G A intron_variant MALY-DE 3 39129438 39129438 single base substitution G A upstream_gene_variant MALY-DE 3 39134368 39134369 deletion of <=200bp AC - downstream_gene_variant MALY-DE 3 39134368 39134369 deletion of <=200bp AC - intron_variant MELA-AU 3 39088733 39088733 single base substitution G A upstream_gene_variant MELA-AU 3 39088931 39088931 single base substitution G A upstream_gene_variant MELA-AU 3 39088972 39088972 single base substitution G A upstream_gene_variant MELA-AU 3 39088976 39088976 single base substitution A G upstream_gene_variant MELA-AU 3 39089002 39089002 single base substitution C T upstream_gene_variant MELA-AU 3 39089396 39089396 single base substitution G A upstream_gene_variant MELA-AU 3 39089492 39089492 single base substitution G A upstream_gene_variant MELA-AU 3 39089633 39089633 single base substitution A C upstream_gene_variant MELA-AU 3 39089698 39089698 single base substitution C T upstream_gene_variant MELA-AU 3 39089852 39089852 single base substitution G A upstream_gene_variant MELA-AU 3 39089887 39089887 single base substitution T C upstream_gene_variant MELA-AU 3 39090799 39090799 single base substitution G A upstream_gene_variant MELA-AU 3 39090801 39090801 single base substitution G C upstream_gene_variant MELA-AU 3 39090940 39090940 single base substitution G A upstream_gene_variant MELA-AU 3 39091027 39091027 single base substitution G A upstream_gene_variant MELA-AU 3 39091306 39091306 single base substitution C T upstream_gene_variant MELA-AU 3 39091351 39091351 single base substitution C G upstream_gene_variant MELA-AU 3 39091449 39091449 single base substitution C T upstream_gene_variant MELA-AU 3 39092219 39092219 single base substitution C T upstream_gene_variant MELA-AU 3 39092449 39092449 single base substitution G A upstream_gene_variant MELA-AU 3 39092856 39092856 single base substitution A G upstream_gene_variant MELA-AU 3 39092857 39092857 single base substitution G A upstream_gene_variant MELA-AU 3 39093488 39093488 single base substitution G A upstream_gene_variant MELA-AU 3 39093555 39093555 single base substitution G A 5_prime_UTR_variant MELA-AU 3 39093555 39093555 single base substitution G A exon_variant MELA-AU 3 39093555 39093555 single base substitution G A synonymous_variant R13R 39G>A MELA-AU 3 39093555 39093555 single base substitution G A upstream_gene_variant MELA-AU 3 39094753 39094754 multiple base substitution (>=2bp and <=200bp) GC AG intron_variant MELA-AU 3 39095482 39095482 single base substitution C T intron_variant MELA-AU 3 39096351 39096351 single base substitution C T intron_variant MELA-AU 3 39096412 39096412 single base substitution C G intron_variant MELA-AU 3 39097291 39097291 single base substitution C T intron_variant MELA-AU 3 39097495 39097495 single base substitution C T intron_variant MELA-AU 3 39097614 39097614 single base substitution C T intron_variant MELA-AU 3 39097666 39097666 single base substitution C T intron_variant MELA-AU 3 39097698 39097698 single base substitution C T intron_variant MELA-AU 3 39099601 39099601 single base substitution C T intron_variant MELA-AU 3 39099641 39099641 single base substitution T A intron_variant MELA-AU 3 39100228 39100228 single base substitution C T intron_variant MELA-AU 3 39100448 39100448 single base substitution C T intron_variant MELA-AU 3 39100649 39100649 single base substitution G A intron_variant MELA-AU 3 39101411 39101411 single base substitution C T intron_variant MELA-AU 3 39101741 39101741 single base substitution C T intron_variant MELA-AU 3 39102340 39102341 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 39102735 39102735 single base substitution C T intron_variant MELA-AU 3 39103109 39103109 single base substitution A G intron_variant MELA-AU 3 39103797 39103797 single base substitution T A intron_variant MELA-AU 3 39103859 39103859 single base substitution C T intron_variant MELA-AU 3 39104185 39104185 single base substitution C T intron_variant MELA-AU 3 39104651 39104651 single base substitution C T 5_prime_UTR_variant MELA-AU 3 39104651 39104651 single base substitution C T exon_variant MELA-AU 3 39104651 39104651 single base substitution C T intron_variant MELA-AU 3 39104651 39104651 single base substitution C T synonymous_variant I53I 159C>T MELA-AU 3 39105640 39105640 single base substitution G A intron_variant MELA-AU 3 39105701 39105701 single base substitution C T intron_variant MELA-AU 3 39105875 39105875 single base substitution C T intron_variant MELA-AU 3 39106007 39106007 single base substitution C T intron_variant MELA-AU 3 39106097 39106097 single base substitution C T intron_variant MELA-AU 3 39106732 39106732 single base substitution C T intron_variant MELA-AU 3 39107481 39107481 single base substitution C T intron_variant MELA-AU 3 39107645 39107645 single base substitution C T intron_variant MELA-AU 3 39107734 39107734 single base substitution T A intron_variant MELA-AU 3 39108010 39108010 single base substitution G A intron_variant MELA-AU 3 39108438 39108438 single base substitution T C intron_variant MELA-AU 3 39108938 39108938 single base substitution C T intron_variant MELA-AU 3 39109062 39109062 single base substitution C T intron_variant MELA-AU 3 39109086 39109086 single base substitution G A intron_variant MELA-AU 3 39110397 39110397 single base substitution A G downstream_gene_variant MELA-AU 3 39110397 39110397 single base substitution A G intron_variant MELA-AU 3 39111701 39111701 single base substitution T C downstream_gene_variant MELA-AU 3 39111701 39111701 single base substitution T C intron_variant MELA-AU 3 39111852 39111852 single base substitution C T downstream_gene_variant MELA-AU 3 39111852 39111852 single base substitution C T intron_variant MELA-AU 3 39111977 39111977 single base substitution C T downstream_gene_variant MELA-AU 3 39111977 39111977 single base substitution C T intron_variant MELA-AU 3 39112053 39112053 single base substitution G A downstream_gene_variant MELA-AU 3 39112053 39112053 single base substitution G A intron_variant MELA-AU 3 39112361 39112362 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 3 39112361 39112362 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 39112375 39112375 single base substitution C T downstream_gene_variant MELA-AU 3 39112375 39112375 single base substitution C T intron_variant MELA-AU 3 39112591 39112591 single base substitution G A downstream_gene_variant MELA-AU 3 39112591 39112591 single base substitution G A intron_variant MELA-AU 3 39114372 39114372 single base substitution G A downstream_gene_variant MELA-AU 3 39114372 39114372 single base substitution G A intron_variant MELA-AU 3 39114404 39114404 single base substitution T A downstream_gene_variant MELA-AU 3 39114404 39114404 single base substitution T A intron_variant MELA-AU 3 39115050 39115050 single base substitution C T downstream_gene_variant MELA-AU 3 39115050 39115050 single base substitution C T intron_variant MELA-AU 3 39115050 39115050 single base substitution C T upstream_gene_variant MELA-AU 3 39115662 39115662 single base substitution C T downstream_gene_variant MELA-AU 3 39115662 39115662 single base substitution C T intron_variant MELA-AU 3 39115662 39115662 single base substitution C T upstream_gene_variant MELA-AU 3 39115832 39115832 single base substitution C T downstream_gene_variant MELA-AU 3 39115832 39115832 single base substitution C T intron_variant MELA-AU 3 39115832 39115832 single base substitution C T upstream_gene_variant MELA-AU 3 39116465 39116465 single base substitution G A downstream_gene_variant MELA-AU 3 39116465 39116465 single base substitution G A intron_variant MELA-AU 3 39116465 39116465 single base substitution G A upstream_gene_variant MELA-AU 3 39116799 39116799 single base substitution C T downstream_gene_variant MELA-AU 3 39116799 39116799 single base substitution C T intron_variant MELA-AU 3 39116799 39116799 single base substitution C T upstream_gene_variant MELA-AU 3 39117077 39117077 single base substitution G A downstream_gene_variant MELA-AU 3 39117077 39117077 single base substitution G A intron_variant MELA-AU 3 39117077 39117077 single base substitution G A upstream_gene_variant MELA-AU 3 39117533 39117533 single base substitution C T downstream_gene_variant MELA-AU 3 39117533 39117533 single base substitution C T intron_variant MELA-AU 3 39117533 39117533 single base substitution C T upstream_gene_variant MELA-AU 3 39118182 39118182 single base substitution C T downstream_gene_variant MELA-AU 3 39118182 39118182 single base substitution C T intron_variant MELA-AU 3 39118182 39118182 single base substitution C T upstream_gene_variant MELA-AU 3 39118504 39118504 single base substitution C T downstream_gene_variant MELA-AU 3 39118504 39118504 single base substitution C T intron_variant MELA-AU 3 39118504 39118504 single base substitution C T upstream_gene_variant MELA-AU 3 39119137 39119137 single base substitution G A downstream_gene_variant MELA-AU 3 39119137 39119137 single base substitution G A intron_variant MELA-AU 3 39119137 39119137 single base substitution G A upstream_gene_variant MELA-AU 3 39119502 39119502 single base substitution C T downstream_gene_variant MELA-AU 3 39119502 39119502 single base substitution C T exon_variant MELA-AU 3 39119502 39119502 single base substitution C T intron_variant MELA-AU 3 39119502 39119502 single base substitution C T upstream_gene_variant MELA-AU 3 39120063 39120063 single base substitution C T downstream_gene_variant MELA-AU 3 39120063 39120063 single base substitution C T intron_variant MELA-AU 3 39120096 39120096 single base substitution G A downstream_gene_variant MELA-AU 3 39120096 39120096 single base substitution G A intron_variant MELA-AU 3 39120246 39120246 single base substitution G A downstream_gene_variant MELA-AU 3 39120246 39120246 single base substitution G A intron_variant MELA-AU 3 39120565 39120565 single base substitution T C downstream_gene_variant MELA-AU 3 39120565 39120565 single base substitution T C intron_variant MELA-AU 3 39122118 39122118 single base substitution C T intron_variant MELA-AU 3 39122255 39122255 single base substitution C T intron_variant MELA-AU 3 39124017 39124017 single base substitution C T intron_variant MELA-AU 3 39124136 39124136 single base substitution C T intron_variant MELA-AU 3 39124909 39124909 single base substitution T C intron_variant MELA-AU 3 39124909 39124909 single base substitution T C upstream_gene_variant MELA-AU 3 39125014 39125014 single base substitution G A intron_variant MELA-AU 3 39125014 39125014 single base substitution G A upstream_gene_variant MELA-AU 3 39127232 39127232 single base substitution C T downstream_gene_variant MELA-AU 3 39127232 39127232 single base substitution C T intron_variant MELA-AU 3 39127232 39127232 single base substitution C T upstream_gene_variant MELA-AU 3 39127318 39127318 single base substitution G T downstream_gene_variant MELA-AU 3 39127318 39127318 single base substitution G T intron_variant MELA-AU 3 39127318 39127318 single base substitution G T upstream_gene_variant MELA-AU 3 39127814 39127814 single base substitution C T downstream_gene_variant MELA-AU 3 39127814 39127814 single base substitution C T exon_variant MELA-AU 3 39127814 39127814 single base substitution C T intron_variant MELA-AU 3 39127814 39127814 single base substitution C T upstream_gene_variant MELA-AU 3 39128002 39128002 single base substitution G A downstream_gene_variant MELA-AU 3 39128002 39128002 single base substitution G A intron_variant MELA-AU 3 39128002 39128002 single base substitution G A upstream_gene_variant MELA-AU 3 39128493 39128493 single base substitution G A downstream_gene_variant MELA-AU 3 39128493 39128493 single base substitution G A intron_variant MELA-AU 3 39128493 39128493 single base substitution G A upstream_gene_variant MELA-AU 3 39128570 39128570 single base substitution T C downstream_gene_variant MELA-AU 3 39128570 39128570 single base substitution T C intron_variant MELA-AU 3 39128570 39128570 single base substitution T C upstream_gene_variant MELA-AU 3 39128662 39128662 single base substitution G A downstream_gene_variant MELA-AU 3 39128662 39128662 single base substitution G A intron_variant MELA-AU 3 39128662 39128662 single base substitution G A upstream_gene_variant MELA-AU 3 39128705 39128705 single base substitution C T downstream_gene_variant MELA-AU 3 39128705 39128705 single base substitution C T intron_variant MELA-AU 3 39128705 39128705 single base substitution C T upstream_gene_variant MELA-AU 3 39132760 39132760 single base substitution A G downstream_gene_variant MELA-AU 3 39132760 39132760 single base substitution A G exon_variant MELA-AU 3 39132760 39132760 single base substitution A G intron_variant MELA-AU 3 39133719 39133719 single base substitution T C downstream_gene_variant MELA-AU 3 39133719 39133719 single base substitution T C intron_variant MELA-AU 3 39134035 39134035 single base substitution T C downstream_gene_variant MELA-AU 3 39134035 39134035 single base substitution T C intron_variant MELA-AU 3 39134522 39134522 single base substitution G A downstream_gene_variant MELA-AU 3 39134522 39134522 single base substitution G A intron_variant MELA-AU 3 39135202 39135202 single base substitution A G downstream_gene_variant MELA-AU 3 39135202 39135202 single base substitution A G intron_variant MELA-AU 3 39135431 39135431 single base substitution T C 3_prime_UTR_variant MELA-AU 3 39135431 39135431 single base substitution T C downstream_gene_variant MELA-AU 3 39135431 39135431 single base substitution T C exon_variant MELA-AU 3 39135431 39135431 single base substitution T C synonymous_variant I329I 987T>C MELA-AU 3 39135431 39135431 single base substitution T C synonymous_variant I46I 138T>C MELA-AU 3 39135431 39135431 single base substitution T C synonymous_variant I522I 1566T>C MELA-AU 3 39135431 39135431 single base substitution T C synonymous_variant I604I 1812T>C MELA-AU 3 39137286 39137286 single base substitution C T 3_prime_UTR_variant MELA-AU 3 39137286 39137286 single base substitution C T downstream_gene_variant MELA-AU 3 39137286 39137286 single base substitution C T exon_variant MELA-AU 3 39138525 39138525 single base substitution G A downstream_gene_variant MELA-AU 3 39138999 39139000 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 39142023 39142023 single base substitution G A downstream_gene_variant MELA-AU 3 39142757 39142757 single base substitution C T downstream_gene_variant MELA-AU 3 39142982 39142982 single base substitution G A downstream_gene_variant MELA-AU 3 39143067 39143067 single base substitution G C downstream_gene_variant ORCA-IN 3 39092087 39092087 single base substitution T G upstream_gene_variant ORCA-IN 3 39104681 39104681 single base substitution G T intron_variant ORCA-IN 3 39104681 39104681 single base substitution G T missense_variant K63N 189G>T ORCA-IN 3 39104681 39104681 single base substitution G T missense_variant V8L 22G>T ORCA-IN 3 39104681 39104681 single base substitution G T splice_region_variant ORCA-IN 3 39119691 39119691 single base substitution A G 3_prime_UTR_variant ORCA-IN 3 39119691 39119691 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant ORCA-IN 3 39119691 39119691 single base substitution A G downstream_gene_variant ORCA-IN 3 39119691 39119691 single base substitution A G exon_variant ORCA-IN 3 39119691 39119691 single base substitution A G intron_variant ORCA-IN 3 39119691 39119691 single base substitution A G missense_variant I264V 790A>G ORCA-IN 3 39119691 39119691 single base substitution A G missense_variant I346V 1036A>G ORCA-IN 3 39137883 39137883 deletion of <=200bp G - 3_prime_UTR_variant ORCA-IN 3 39137883 39137883 deletion of <=200bp G - downstream_gene_variant ORCA-IN 3 39137883 39137883 deletion of <=200bp G - exon_variant OV-AU 3 39091472 39091472 single base substitution A G upstream_gene_variant OV-AU 3 39097126 39097126 single base substitution G T intron_variant OV-AU 3 39106818 39106818 single base substitution G A intron_variant OV-AU 3 39117789 39117789 single base substitution G T downstream_gene_variant OV-AU 3 39117789 39117789 single base substitution G T intron_variant OV-AU 3 39117789 39117789 single base substitution G T upstream_gene_variant OV-AU 3 39117869 39117869 single base substitution G A downstream_gene_variant OV-AU 3 39117869 39117869 single base substitution G A intron_variant OV-AU 3 39117869 39117869 single base substitution G A upstream_gene_variant OV-AU 3 39128282 39128282 single base substitution G C downstream_gene_variant OV-AU 3 39128282 39128282 single base substitution G C intron_variant OV-AU 3 39128282 39128282 single base substitution G C upstream_gene_variant OV-AU 3 39133528 39133528 single base substitution G C downstream_gene_variant OV-AU 3 39133528 39133528 single base substitution G C intron_variant OV-AU 3 39140048 39140048 single base substitution C A downstream_gene_variant OV-US 3 39093555 39093555 single base substitution G A 5_prime_UTR_variant OV-US 3 39093555 39093555 single base substitution G A exon_variant OV-US 3 39093555 39093555 single base substitution G A synonymous_variant R13R 39G>A OV-US 3 39093555 39093555 single base substitution G A upstream_gene_variant PACA-AU 3 39091591 39091591 single base substitution C A upstream_gene_variant PACA-AU 3 39091921 39091921 single base substitution G C upstream_gene_variant PACA-AU 3 39103522 39103522 single base substitution A T intron_variant PACA-AU 3 39105477 39105477 single base substitution A G intron_variant PACA-AU 3 39108829 39108829 single base substitution A G intron_variant PACA-AU 3 39119881 39119881 single base substitution T G downstream_gene_variant PACA-AU 3 39119881 39119881 single base substitution T G intron_variant PACA-AU 3 39124483 39124483 single base substitution C T intron_variant PACA-AU 3 39124483 39124483 single base substitution C T upstream_gene_variant PACA-AU 3 39126199 39126199 single base substitution G A 3_prime_UTR_variant PACA-AU 3 39126199 39126199 single base substitution G A 5_prime_UTR_variant PACA-AU 3 39126199 39126199 single base substitution G A downstream_gene_variant PACA-AU 3 39126199 39126199 single base substitution G A exon_variant PACA-AU 3 39126199 39126199 single base substitution G A missense_variant G174S 520G>A PACA-AU 3 39126199 39126199 single base substitution G A missense_variant G367S 1099G>A PACA-AU 3 39126199 39126199 single base substitution G A missense_variant G449S 1345G>A PACA-AU 3 39126199 39126199 single base substitution G A upstream_gene_variant PACA-AU 3 39133215 39133215 single base substitution G C downstream_gene_variant PACA-AU 3 39133215 39133215 single base substitution G C intron_variant PACA-AU 3 39133376 39133376 single base substitution A C downstream_gene_variant PACA-AU 3 39133376 39133376 single base substitution A C intron_variant PACA-AU 3 39141920 39141920 single base substitution G A downstream_gene_variant PACA-CA 3 39096007 39096007 insertion of <=200bp - T intron_variant PACA-CA 3 39099945 39099945 single base substitution A G intron_variant PACA-CA 3 39102101 39102101 single base substitution A G intron_variant PACA-CA 3 39106422 39106422 single base substitution T C intron_variant PACA-CA 3 39108754 39108754 single base substitution G A intron_variant PACA-CA 3 39109183 39109184 deletion of <=200bp CT - intron_variant PACA-CA 3 39111615 39111618 deletion of <=200bp GTTG - downstream_gene_variant PACA-CA 3 39111615 39111618 deletion of <=200bp GTTG - intron_variant PACA-CA 3 39112358 39112358 single base substitution G A downstream_gene_variant PACA-CA 3 39112358 39112358 single base substitution G A intron_variant PACA-CA 3 39120972 39120972 single base substitution G A downstream_gene_variant PACA-CA 3 39120972 39120972 single base substitution G A intron_variant PACA-CA 3 39121307 39121307 deletion of <=200bp T - intron_variant PACA-CA 3 39121307 39121307 deletion of <=200bp T - splice_region_variant PACA-CA 3 39123156 39123156 single base substitution C T intron_variant PACA-CA 3 39124742 39124742 single base substitution A G intron_variant PACA-CA 3 39124742 39124742 single base substitution A G upstream_gene_variant PACA-CA 3 39127912 39127912 single base substitution C T downstream_gene_variant PACA-CA 3 39127912 39127912 single base substitution C T intron_variant PACA-CA 3 39127912 39127912 single base substitution C T upstream_gene_variant PACA-CA 3 39130013 39130013 single base substitution C T downstream_gene_variant PACA-CA 3 39130013 39130013 single base substitution C T intron_variant PACA-CA 3 39130013 39130013 single base substitution C T upstream_gene_variant PACA-CA 3 39132319 39132319 single base substitution C T downstream_gene_variant PACA-CA 3 39132319 39132319 single base substitution C T exon_variant PACA-CA 3 39132319 39132319 single base substitution C T intron_variant PACA-CA 3 39133427 39133427 single base substitution G A downstream_gene_variant PACA-CA 3 39133427 39133427 single base substitution G A intron_variant PACA-CA 3 39133459 39133459 single base substitution T C downstream_gene_variant PACA-CA 3 39133459 39133459 single base substitution T C intron_variant PAEN-IT 3 39101241 39101241 single base substitution G T intron_variant PBCA-DE 3 39096343 39096343 single base substitution G C intron_variant PBCA-DE 3 39101911 39101912 deletion of <=200bp AT - intron_variant PBCA-DE 3 39109580 39109580 deletion of <=200bp T - intron_variant PBCA-DE 3 39122027 39122027 single base substitution G T intron_variant PBCA-DE 3 39134368 39134369 deletion of <=200bp AC - downstream_gene_variant PBCA-DE 3 39134368 39134369 deletion of <=200bp AC - intron_variant PBCA-DE 3 39136297 39136297 single base substitution C G 3_prime_UTR_variant PBCA-DE 3 39136297 39136297 single base substitution C G downstream_gene_variant PBCA-DE 3 39136297 39136297 single base substitution C G exon_variant PRAD-CA 3 39102521 39102521 single base substitution C T intron_variant PRAD-CA 3 39110605 39110605 single base substitution G A downstream_gene_variant PRAD-CA 3 39110605 39110605 single base substitution G A intron_variant PRAD-CA 3 39111723 39111723 single base substitution A G downstream_gene_variant PRAD-CA 3 39111723 39111723 single base substitution A G intron_variant PRAD-UK 3 39090233 39090233 single base substitution A G upstream_gene_variant PRAD-UK 3 39091451 39091451 single base substitution G T upstream_gene_variant PRAD-UK 3 39092047 39092047 single base substitution C A upstream_gene_variant PRAD-UK 3 39101358 39101358 single base substitution A T intron_variant PRAD-UK 3 39106043 39106043 single base substitution G A intron_variant PRAD-UK 3 39129022 39129022 single base substitution T A downstream_gene_variant PRAD-UK 3 39129022 39129022 single base substitution T A intron_variant PRAD-UK 3 39129022 39129022 single base substitution T A upstream_gene_variant PRAD-UK 3 39140283 39140283 single base substitution T C downstream_gene_variant READ-US 3 39142260 39142260 single base substitution C T downstream_gene_variant RECA-EU 3 39088930 39088930 single base substitution G A upstream_gene_variant RECA-EU 3 39095955 39095955 single base substitution G C intron_variant RECA-EU 3 39101476 39101476 single base substitution G A intron_variant RECA-EU 3 39103938 39103938 single base substitution A G intron_variant RECA-EU 3 39116828 39116828 single base substitution C G downstream_gene_variant RECA-EU 3 39116828 39116828 single base substitution C G intron_variant RECA-EU 3 39116828 39116828 single base substitution C G upstream_gene_variant RECA-EU 3 39122475 39122475 single base substitution G A intron_variant SKCA-BR 3 39090747 39090747 single base substitution A G upstream_gene_variant SKCA-BR 3 39091812 39091812 single base substitution T G upstream_gene_variant SKCA-BR 3 39095855 39095855 single base substitution G T intron_variant SKCA-BR 3 39097096 39097096 single base substitution A G intron_variant SKCA-BR 3 39106234 39106234 single base substitution C T intron_variant SKCA-BR 3 39110008 39110008 single base substitution C T intron_variant SKCA-BR 3 39111140 39111140 single base substitution C A 3_prime_UTR_variant SKCA-BR 3 39111140 39111140 single base substitution C A 5_prime_UTR_variant SKCA-BR 3 39111140 39111140 single base substitution C A downstream_gene_variant SKCA-BR 3 39111140 39111140 single base substitution C A intron_variant SKCA-BR 3 39111140 39111140 single base substitution C A synonymous_variant R111R 331C>A SKCA-BR 3 39111140 39111140 single base substitution C A synonymous_variant R123R 367C>A SKCA-BR 3 39111140 39111140 single base substitution C A synonymous_variant R193R 577C>A SKCA-BR 3 39122661 39122661 single base substitution C G intron_variant SKCA-BR 3 39123960 39123960 single base substitution A G intron_variant SKCA-BR 3 39132872 39132872 single base substitution C T downstream_gene_variant SKCA-BR 3 39132872 39132872 single base substitution C T exon_variant SKCA-BR 3 39132872 39132872 single base substitution C T intron_variant SKCA-BR 3 39134211 39134212 deletion of <=200bp AT - downstream_gene_variant SKCA-BR 3 39134211 39134212 deletion of <=200bp AT - intron_variant SKCA-BR 3 39135929 39135929 single base substitution C T downstream_gene_variant SKCA-BR 3 39135929 39135929 single base substitution C T exon_variant SKCA-BR 3 39135929 39135929 single base substitution C T intron_variant SKCA-BR 3 39137452 39137452 single base substitution C T 3_prime_UTR_variant SKCA-BR 3 39137452 39137452 single base substitution C T downstream_gene_variant SKCA-BR 3 39137452 39137452 single base substitution C T exon_variant SKCM-US 3 39093555 39093555 single base substitution G A 5_prime_UTR_variant SKCM-US 3 39093555 39093555 single base substitution G A exon_variant SKCM-US 3 39093555 39093555 single base substitution G A synonymous_variant R13R 39G>A SKCM-US 3 39093555 39093555 single base substitution G A upstream_gene_variant SKCM-US 3 39108073 39108073 single base substitution A G 3_prime_UTR_variant SKCM-US 3 39108073 39108073 single base substitution A G 5_prime_UTR_variant SKCM-US 3 39108073 39108073 single base substitution A G exon_variant SKCM-US 3 39108073 39108073 single base substitution A G intron_variant SKCM-US 3 39108073 39108073 single base substitution A G synonymous_variant V101V 303A>G SKCM-US 3 39108073 39108073 single base substitution A G synonymous_variant V19V 57A>G SKCM-US 3 39108073 39108073 single base substitution A G synonymous_variant V31V 93A>G SKCM-US 3 39116403 39116403 single base substitution C T 3_prime_UTR_variant SKCM-US 3 39116403 39116403 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 3 39116403 39116403 single base substitution C T downstream_gene_variant SKCM-US 3 39116403 39116403 single base substitution C T missense_variant R205W 613C>T SKCM-US 3 39116403 39116403 single base substitution C T missense_variant R287W 859C>T SKCM-US 3 39116403 39116403 single base substitution C T missense_variant R79W 235C>T SKCM-US 3 39116403 39116403 single base substitution C T upstream_gene_variant SKCM-US 3 39119691 39119691 single base substitution A G 3_prime_UTR_variant SKCM-US 3 39119691 39119691 single base substitution A G 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 3 39119691 39119691 single base substitution A G downstream_gene_variant SKCM-US 3 39119691 39119691 single base substitution A G exon_variant SKCM-US 3 39119691 39119691 single base substitution A G intron_variant SKCM-US 3 39119691 39119691 single base substitution A G missense_variant I264V 790A>G SKCM-US 3 39119691 39119691 single base substitution A G missense_variant I346V 1036A>G SKCM-US 3 39129711 39129711 single base substitution C T 3_prime_UTR_variant SKCM-US 3 39129711 39129711 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 3 39129711 39129711 single base substitution C T downstream_gene_variant SKCM-US 3 39129711 39129711 single base substitution C T exon_variant SKCM-US 3 39129711 39129711 single base substitution C T missense_variant R248C 742C>T SKCM-US 3 39129711 39129711 single base substitution C T missense_variant R441C 1321C>T SKCM-US 3 39129711 39129711 single base substitution C T missense_variant R523C 1567C>T SKCM-US 3 39129711 39129711 single base substitution C T upstream_gene_variant SKCM-US 3 39133152 39133152 single base substitution C T 3_prime_UTR_variant SKCM-US 3 39133152 39133152 single base substitution C T exon_variant SKCM-US 3 39133152 39133152 single base substitution C T missense_variant L11F 31C>T SKCM-US 3 39133152 39133152 single base substitution C T missense_variant L294F 880C>T SKCM-US 3 39133152 39133152 single base substitution C T missense_variant L487F 1459C>T SKCM-US 3 39133152 39133152 single base substitution C T missense_variant L569F 1705C>T SKCM-US 3 39133154 39133154 single base substitution C A 3_prime_UTR_variant SKCM-US 3 39133154 39133154 single base substitution C A exon_variant SKCM-US 3 39133154 39133154 single base substitution C A synonymous_variant L11L 33C>A SKCM-US 3 39133154 39133154 single base substitution C A synonymous_variant L294L 882C>A SKCM-US 3 39133154 39133154 single base substitution C A synonymous_variant L487L 1461C>A SKCM-US 3 39133154 39133154 single base substitution C A synonymous_variant L569L 1707C>A SKCM-US 3 39135452 39135452 single base substitution T C 3_prime_UTR_variant SKCM-US 3 39135452 39135452 single base substitution T C downstream_gene_variant SKCM-US 3 39135452 39135452 single base substitution T C exon_variant SKCM-US 3 39135452 39135452 single base substitution T C synonymous_variant S336S 1008T>C SKCM-US 3 39135452 39135452 single base substitution T C synonymous_variant S529S 1587T>C SKCM-US 3 39135452 39135452 single base substitution T C synonymous_variant S53S 159T>C SKCM-US 3 39135452 39135452 single base substitution T C synonymous_variant S611S 1833T>C SKCM-US 3 39136169 39136169 single base substitution G A 3_prime_UTR_variant SKCM-US 3 39136169 39136169 single base substitution G A downstream_gene_variant SKCM-US 3 39136169 39136169 single base substitution G A exon_variant SKCM-US 3 39136169 39136169 single base substitution G A missense_variant V101M 301G>A SKCM-US 3 39136169 39136169 single base substitution G A missense_variant V382M 1144G>A SKCM-US 3 39136169 39136169 single base substitution G A missense_variant V575M 1723G>A SKCM-US 3 39136169 39136169 single base substitution G A missense_variant V657M 1969G>A STAD-US 3 39107318 39107318 single base substitution C T 3_prime_UTR_variant STAD-US 3 39107318 39107318 single base substitution C T 5_prime_UTR_variant STAD-US 3 39107318 39107318 single base substitution C T exon_variant STAD-US 3 39107318 39107318 single base substitution C T intron_variant STAD-US 3 39107318 39107318 single base substitution C T missense_variant A69V 206C>T STAD-US 3 39107333 39107333 single base substitution A G 3_prime_UTR_variant STAD-US 3 39107333 39107333 single base substitution A G 5_prime_UTR_variant STAD-US 3 39107333 39107333 single base substitution A G exon_variant STAD-US 3 39107333 39107333 single base substitution A G intron_variant STAD-US 3 39107333 39107333 single base substitution A G missense_variant H4R 11A>G STAD-US 3 39107333 39107333 single base substitution A G missense_variant H74R 221A>G STAD-US 3 39107349 39107349 single base substitution C T 3_prime_UTR_variant STAD-US 3 39107349 39107349 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant STAD-US 3 39107349 39107349 single base substitution C T exon_variant STAD-US 3 39107349 39107349 single base substitution C T intron_variant STAD-US 3 39107349 39107349 single base substitution C T synonymous_variant N79N 237C>T STAD-US 3 39107349 39107349 single base substitution C T synonymous_variant N9N 27C>T STAD-US 3 39111148 39111148 single base substitution G T 3_prime_UTR_variant STAD-US 3 39111148 39111148 single base substitution G T 5_prime_UTR_variant STAD-US 3 39111148 39111148 single base substitution G T downstream_gene_variant STAD-US 3 39111148 39111148 single base substitution G T intron_variant STAD-US 3 39111148 39111148 single base substitution G T missense_variant W113C 339G>T STAD-US 3 39111148 39111148 single base substitution G T missense_variant W125C 375G>T STAD-US 3 39111148 39111148 single base substitution G T missense_variant W195C 585G>T STAD-US 3 39119656 39119656 single base substitution C T 3_prime_UTR_variant STAD-US 3 39119656 39119656 single base substitution C T 5_prime_UTR_variant STAD-US 3 39119656 39119656 single base substitution C T downstream_gene_variant STAD-US 3 39119656 39119656 single base substitution C T exon_variant STAD-US 3 39119656 39119656 single base substitution C T intron_variant STAD-US 3 39119656 39119656 single base substitution C T missense_variant A252V 755C>T STAD-US 3 39119656 39119656 single base substitution C T missense_variant A334V 1001C>T STAD-US 3 39135499 39135501 deletion of <=200bp AAG - 3_prime_UTR_variant STAD-US 3 39135499 39135501 deletion of <=200bp AAG - downstream_gene_variant STAD-US 3 39135499 39135501 deletion of <=200bp AAG - exon_variant STAD-US 3 39135499 39135501 deletion of <=200bp AAG - inframe_deletion KE352K STAD-US 3 39135499 39135501 deletion of <=200bp AAG - inframe_deletion KE545K STAD-US 3 39135499 39135501 deletion of <=200bp AAG - inframe_deletion KE627K STAD-US 3 39135499 39135501 deletion of <=200bp AAG - inframe_deletion KE69K STAD-US 3 39139895 39139895 single base substitution C T downstream_gene_variant STAD-US 3 39141846 39141846 insertion of <=200bp - G downstream_gene_variant STAD-US 3 39141847 39141847 insertion of <=200bp - G downstream_gene_variant STAD-US 3 39141917 39141917 single base substitution C T downstream_gene_variant THCA-SA 3 39111140 39111140 single base substitution C A 3_prime_UTR_variant THCA-SA 3 39111140 39111140 single base substitution C A 5_prime_UTR_variant THCA-SA 3 39111140 39111140 single base substitution C A downstream_gene_variant THCA-SA 3 39111140 39111140 single base substitution C A intron_variant THCA-SA 3 39111140 39111140 single base substitution C A synonymous_variant R111R 331C>A THCA-SA 3 39111140 39111140 single base substitution C A synonymous_variant R123R 367C>A THCA-SA 3 39111140 39111140 single base substitution C A synonymous_variant R193R 577C>A UCEC-US 3 39104556 39104556 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 3 39104556 39104556 single base substitution C T exon_variant UCEC-US 3 39104556 39104556 single base substitution C T intron_variant UCEC-US 3 39104556 39104556 single base substitution C T stop_gained R22* 64C>T UCEC-US 3 39116415 39116415 single base substitution T G 3_prime_UTR_variant UCEC-US 3 39116415 39116415 single base substitution T G 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 3 39116415 39116415 single base substitution T G downstream_gene_variant UCEC-US 3 39116415 39116415 single base substitution T G missense_variant C209G 625T>G UCEC-US 3 39116415 39116415 single base substitution T G missense_variant C291G 871T>G UCEC-US 3 39116415 39116415 single base substitution T G missense_variant C83G 247T>G UCEC-US 3 39116415 39116415 single base substitution T G upstream_gene_variant UCEC-US 3 39118648 39118648 single base substitution G T 3_prime_UTR_variant UCEC-US 3 39118648 39118648 single base substitution G T 5_prime_UTR_variant UCEC-US 3 39118648 39118648 single base substitution G T downstream_gene_variant UCEC-US 3 39118648 39118648 single base substitution G T missense_variant A224S 670G>T UCEC-US 3 39118648 39118648 single base substitution G T missense_variant A306S 916G>T UCEC-US 3 39118648 39118648 single base substitution G T missense_variant A98S 292G>T UCEC-US 3 39118648 39118648 single base substitution G T upstream_gene_variant UCEC-US 3 39126197 39126197 single base substitution C A 3_prime_UTR_variant UCEC-US 3 39126197 39126197 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 3 39126197 39126197 single base substitution C A downstream_gene_variant UCEC-US 3 39126197 39126197 single base substitution C A exon_variant UCEC-US 3 39126197 39126197 single base substitution C A missense_variant A173D 518C>A UCEC-US 3 39126197 39126197 single base substitution C A missense_variant A366D 1097C>A UCEC-US 3 39126197 39126197 single base substitution C A missense_variant A448D 1343C>A UCEC-US 3 39126197 39126197 single base substitution C A upstream_gene_variant UCEC-US 3 39127064 39127064 single base substitution G A 3_prime_UTR_variant UCEC-US 3 39127064 39127064 single base substitution G A 5_prime_UTR_variant UCEC-US 3 39127064 39127064 single base substitution G A downstream_gene_variant UCEC-US 3 39127064 39127064 single base substitution G A exon_variant UCEC-US 3 39127064 39127064 single base substitution G A synonymous_variant V204V 612G>A UCEC-US 3 39127064 39127064 single base substitution G A synonymous_variant V397V 1191G>A UCEC-US 3 39127064 39127064 single base substitution G A synonymous_variant V479V 1437G>A UCEC-US 3 39127064 39127064 single base substitution G A upstream_gene_variant UCEC-US 3 39129639 39129639 single base substitution C T 3_prime_UTR_variant UCEC-US 3 39129639 39129639 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 3 39129639 39129639 single base substitution C T downstream_gene_variant UCEC-US 3 39129639 39129639 single base substitution C T exon_variant UCEC-US 3 39129639 39129639 single base substitution C T stop_gained R224* 670C>T UCEC-US 3 39129639 39129639 single base substitution C T stop_gained R417* 1249C>T UCEC-US 3 39129639 39129639 single base substitution C T stop_gained R499* 1495C>T UCEC-US 3 39129639 39129639 single base substitution C T upstream_gene_variant UCEC-US 3 39135514 39135514 single base substitution C T 3_prime_UTR_variant UCEC-US 3 39135514 39135514 single base substitution C T downstream_gene_variant UCEC-US 3 39135514 39135514 single base substitution C T exon_variant UCEC-US 3 39135514 39135514 single base substitution C T missense_variant A357V 1070C>T UCEC-US 3 39135514 39135514 single base substitution C T missense_variant A550V 1649C>T UCEC-US 3 39135514 39135514 single base substitution C T missense_variant A632V 1895C>T UCEC-US 3 39135514 39135514 single base substitution C T missense_variant A74V 221C>T UCEC-US 3 39139804 39139804 single base substitution C T downstream_gene_variant UCEC-US 3 39139890 39139890 single base substitution G A downstream_gene_variant UCEC-US 3 39140258 39140258 single base substitution G T downstream_gene_variant UCEC-US 3 39140339 39140339 single base substitution G A downstream_gene_variant UCEC-US 3 39142260 39142260 single base substitution C T downstream_gene_variant UCEC-US 3 39142358 39142358 single base substitution A T downstream_gene_variant UCEC-US 3 39142359 39142359 single base substitution A C downstream_gene_variant UCEC-US 3 39142553 39142553 single base substitution C T downstream_gene_variant UCEC-US 3 39142560 39142560 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand LUAD-B00416 COSM355448 c.114G>T p.L38L Substitution - coding silent 3:39063115-39063115 + BD135T COSM5516261 c.1740delA p.D583fs*75 Deletion - Frameshift 3:39091696-39091696 + SK0115_P COSM1600196 c.1024T>A p.C342S Substitution - Missense 3:39078188-39078188 + RK095_C01 COSM3702421 c.1378+3G>T p.? Unknown 3:39084744-39084744 + PD5125a COSM3719617 c.56A>G p.Y19C Substitution - Missense 3:39063057-39063057 + CSB19 COSM5025932 c.1173+1_1173+2insT p.? Unknown 3:39079809-39079810 + 2492721 COSM3593766 c.1567C>T p.R523C Substitution - Missense 3:39088220-39088220 + 60 COSM5735151 c.1451A>G p.E484G Substitution - Missense 3:39085587-39085587 + 587342 COSM1232602 c.703C>T p.R235C Substitution - Missense 3:39074756-39074756 + TCGA-GV-A3QH-01 COSM1309096 c.43G>T p.V15L Substitution - Missense 3:39052068-39052068 + OSCC-GB_01090111 COSM4886482 c.189G>T p.K63N Substitution - Missense 3:39063190-39063190 + TCGA-ER-A19E-06 COSM3593764 c.1036A>G p.I346V Substitution - Missense 3:39078200-39078200 + SNUH_G16_S1 COSM4002676 c.972+3A>G p.? Unknown 3:39077216-39077216 + TCGA-AX-A05Z-01 COSM1044396 c.64C>T p.R22* Substitution - Nonsense 3:39063065-39063065 + TCGA-ER-A19W-06 COSM81913 c.39G>A p.R13R Substitution - coding silent 3:39052064-39052064 + 2492729 COSM5726450 c.819C>T p.D273D Substitution - coding silent 3:39074872-39074872 + B89-4 COSM1753195 c.1543G>T p.V515L Substitution - Missense 3:39088196-39088196 + HCA7 COSM4630861 c.1101C>T p.H367H Substitution - coding silent 3:39079736-39079736 + TCGA-13-0893-01 COSM81913 c.39G>A p.R13R Substitution - coding silent 3:39052064-39052064 + PT52 COSM5939179 c.1441C>T p.P481S Substitution - Missense 3:39085577-39085577 + TCGA-AP-A051-01 COSM1044404 c.1895C>T p.A632V Substitution - Missense 3:39094023-39094023 + NB02C COSM1236286 c.277G>T p.A93S Substitution - Missense 3:39066556-39066556 + TCGA-CD-A4MG-01 COSM4117443 c.237C>T p.N79N Substitution - coding silent 3:39065858-39065858 + TCGA-IR-A3LL-01 COSM4849975 c.784G>A p.D262N Substitution - Missense 3:39074837-39074837 + Gp2D COSM2987326 c.1815C>T p.I605I Substitution - coding silent 3:39093943-39093943 + CSCC-44-T COSM81913 c.39G>A p.R13R Substitution - coding silent 3:39052064-39052064 + T1154 COSM4740978 c.1419T>C p.Y473Y Substitution - coding silent 3:39085555-39085555 + TCGA-AX-A05Z-01 COSM1044397 c.871T>G p.C291G Substitution - Missense 3:39074924-39074924 + TCGA-AO-A0J6-01 COSM446470 c.934A>G p.I312V Substitution - Missense 3:39077175-39077175 + 2492723 COSM3593766 c.1567C>T p.R523C Substitution - Missense 3:39088220-39088220 + TCGA-CM-4743-01 COSM1422897 c.669G>A p.T223T Substitution - coding silent 3:39069741-39069741 + RK306_C01 COSM4964190 c.1379-2A>T p.? Unknown 3:39085513-39085513 + PT48 COSM5931429 c.482-8C>T p.? Unknown 3:39068763-39068763 + LIM1899 COSM3774997 c.1870G>A p.E624K Substitution - Missense 3:39093998-39093998 + 08-P054 COSM4584324 c.507T>C p.D169D Substitution - coding silent 3:39068796-39068796 + SNUH_G76_S1 COSM4414948 c.577C>A p.R193R Substitution - coding silent 3:39069649-39069649 + 2492720 COSM3593766 c.1567C>T p.R523C Substitution - Missense 3:39088220-39088220 + TCGA-EE-A2GI-06 COSM3593769 c.1707C>A p.L569L Substitution - coding silent 3:39091663-39091663 + TCGA-61-1900-01 COSM1327571 c.1508_1524del17 p.N504fs*10 Deletion - Frameshift 3:39088161-39088177 + TCGA-DK-A3IN-01 COSM3774997 c.1870G>A p.E624K Substitution - Missense 3:39093998-39093998 + TCGA-EY-A1GS-01 COSM1044402 c.1437G>A p.V479V Substitution - coding silent 3:39085573-39085573 + ESCC_55 COSM5631934 c.659G>C p.R220T Substitution - Missense 3:39069731-39069731 + SK0115_M COSM1600196 c.1024T>A p.C342S Substitution - Missense 3:39078188-39078188 + ESCC_58 COSM5632603 c.374_375insT p.A126fs*4 Insertion - Frameshift 3:39066768-39066769 + CHC892T COSM4959169 c.746G>T p.R249L Substitution - Missense 3:39074799-39074799 + CSCC-29-T COSM4499337 c.53C>T p.S18F Substitution - Missense 3:39063054-39063054 + Pat_32_A COSM5864483 c.175G>A p.V59I Substitution - Missense 3:39063176-39063176 + OSCC-GB_01110111 COSM3593764 c.1036A>G p.I346V Substitution - Missense 3:39078200-39078200 + LP6008051-DNA_A02 COSM5951358 c.290C>T p.T97M Substitution - Missense 3:39066569-39066569 + TCGA-CG-4442-01 COSM4117441 c.206C>T p.A69V Substitution - Missense 3:39065827-39065827 + PD8623a COSM4324134 c.565G>A p.E189K Substitution - Missense 3:39068854-39068854 + HCC1395 COSM50998 c.1755C>G p.L585L Substitution - coding silent 3:39093883-39093883 + TCGA-G4-6309-01 COSM1422896 c.668C>T p.T223M Substitution - Missense 3:39069740-39069740 + TCGA-C5-A1MH-01 COSM4820800 c.1210G>A p.E404K Substitution - Missense 3:39084191-39084191 + TCGA-BH-A0BC-01 COSM446471 c.2017C>T p.R673C Substitution - Missense 3:39094726-39094726 + CSCC-7-T COSM4512339 c.8C>T p.A3V Substitution - Missense 3:39052033-39052033 + TCGA-CJ-4903-01 COSM480071 c.303A>T p.V101V Substitution - coding silent 3:39066582-39066582 + BD78T COSM5520470 c.1434_1435insTG p.V479fs*2 Insertion - Frameshift 3:39085570-39085571 + Pat_41_B COSM5864482 c.133C>T p.L45F Substitution - Missense 3:39063134-39063134 + TCGA-D3-A2J8-06 COSM3593763 c.859C>T p.R287W Substitution - Missense 3:39074912-39074912 + CSCC-10-T COSM4469444 c.15C>T p.H5H Substitution - coding silent 3:39052040-39052040 + 587228 COSM1232600 c.745C>T p.R249* Substitution - Nonsense 3:39074798-39074798 + PR-02-1899 COSM248325 c.1343C>T p.A448V Substitution - Missense 3:39084706-39084706 + RK081_C01 COSM3767419 c.403G>T p.A135S Substitution - Missense 3:39066797-39066797 + TCGA-AM-5820-01 COSM328121 c.1682A>G p.K561R Substitution - Missense 3:39091638-39091638 + I2L-P7-Tumor-Organoid COSM1642247 c.1173+8delT p.? Unknown 3:39079816-39079816 + CSCC-31-T COSM4566416 c.35_36GG>AA p.R12Q Substitution - Missense 3:39052060-39052061 + TCGA-27-2528-01 COSM3408652 c.1332T>G p.S444S Substitution - coding silent 3:39084695-39084695 + SNUH_G73_S1 COSM4414948 c.577C>A p.R193R Substitution - coding silent 3:39069649-39069649 + TCGA-EE-A3AD-06 COSM3593771 c.1833T>C p.S611S Substitution - coding silent 3:39093961-39093961 + TCGA-EA-A3QE-01 COSM4843575 c.1669-3C>T p.? Unknown 3:39091622-39091622 + 1004 COSM5730686 c.304T>C p.W102R Substitution - Missense 3:39066583-39066583 + pfg017T COSM1642247 c.1173+8delT p.? Unknown 3:39079816-39079816 + CLL093 COSM1291703 c.610A>G p.M204V Substitution - Missense 3:39069682-39069682 + LAU165 COSM233762 c.330G>T p.M110I Substitution - Missense 3:39066609-39066609 + 31119 COSM5044261 c.1006G>T p.G336* Substitution - Nonsense 3:39078170-39078170 + TCGA-EE-A3AB-06 COSM3593760 c.303A>G p.V101V Substitution - coding silent 3:39066582-39066582 + tumor_4120193 COSM1642247 c.1173+8delT p.? Unknown 3:39079816-39079816 + EOPC-139_tumor_01 COSM5950309 c.770C>T p.A257V Substitution - Missense 3:39074823-39074823 + TARGET-30-PARKAG COSM1236286 c.277G>T p.A93S Substitution - Missense 3:39066556-39066556 + CSCC-5-T COSM4468046 c.1522C>T p.Q508* Substitution - Nonsense 3:39088175-39088175 + TCGA-D1-A103-01 COSM1044401 c.1343C>A p.A448D Substitution - Missense 3:39084706-39084706 + TCGA-CG-5721-01 COSM4117444 c.585G>T p.W195C Substitution - Missense 3:39069657-39069657 + TCGA-EE-A2GI-06 COSM3593767 c.1705C>T p.L569F Substitution - Missense 3:39091661-39091661 + 8051974 COSM3392392 c.1345G>A p.G449S Substitution - Missense 3:39084708-39084708 + CSCC-35-T COSM4469031 c.1578C>T p.F526F Substitution - coding silent 3:39088231-39088231 + pfg016T COSM1642248 c.1963C>T p.R655* Substitution - Nonsense 3:39094672-39094672 + T2269 COSM4740976 c.148C>T p.R50* Substitution - Nonsense 3:39063149-39063149 + TCGA-AX-A0J0-01 COSM1044399 c.916G>T p.A306S Substitution - Missense 3:39077157-39077157 + sysucc-311T COSM5465874 c.352-4A>G p.? Unknown 3:39066742-39066742 + Gp5D COSM2987326 c.1815C>T p.I605I Substitution - coding silent 3:39093943-39093943 + HN_62421 COSM127213 c.1746-1G>C p.? Unknown 3:39093873-39093873 + TCGA-EE-A29S-06 COSM3593766 c.1567C>T p.R523C Substitution - Missense 3:39088220-39088220 + LUAD-B01970 COSM356134 c.1743A>C p.K581N Substitution - Missense 3:39091699-39091699 + TCGA-18-3416-01 COSM730923 c.1989G>C p.K663N Substitution - Missense 3:39094698-39094698 + QC2-34-T2 COSM5654692 c.1486C>A p.Q496K Substitution - Missense 3:39088139-39088139 + SC_9076 COSM5568995 c.284C>T p.S95F Substitution - Missense 3:39066563-39066563 + TCGA-A6-6652-01 COSM1422895 c.83A>G p.Y28C Substitution - Missense 3:39063084-39063084 + HCC095T COSM5811034 c.1395T>A p.L465L Substitution - coding silent 3:39085531-39085531 + TCGA-HU-A4H0-01 COSM4117442 c.221A>G p.H74R Substitution - Missense 3:39065842-39065842 + MedB-1 COSM5622168 c.1102A>G p.I368V Substitution - Missense 3:39079737-39079737 + B64 COSM1753194 c.1007G>C p.G336A Substitution - Missense 3:39078171-39078171 + T3174 COSM4740977 c.1326G>T p.W442C Substitution - Missense 3:39084689-39084689 + B89-4-Tumor COSM1753195 c.1543G>T p.V515L Substitution - Missense 3:39088196-39088196 + cSCCP6 COSM136333 c.1999G>A p.D667N Substitution - Missense 3:39094708-39094708 + TCGA-AA-3972-01 COSM297339 c.88C>T p.R30* Substitution - Nonsense 3:39063089-39063089 + 61 COSM5736564 c.682G>T p.G228C Substitution - Missense 3:39074735-39074735 + TCGA-EE-A29V-06 COSM3593773 c.1969G>A p.V657M Substitution - Missense 3:39094678-39094678 + CHC892T COSM4959169 c.746G>T p.R249L Substitution - Missense 3:39074799-39074799 + T2197 COSM1422897 c.669G>A p.T223T Substitution - coding silent 3:39069741-39069741 + TCGA-BR-4201-01 COSM4117445 c.1001C>T p.A334V Substitution - Missense 3:39078165-39078165 + ESCC_36 COSM5628811 c.317A>G p.K106R Substitution - Missense 3:39066596-39066596 + TCGA-BS-A0UJ-01 COSM1044403 c.1495C>T p.R499* Substitution - Nonsense 3:39088148-39088148 + TCGA-DK-A3IN-01 COSM3774995 c.1858G>A p.E620K Substitution - Missense 3:39093986-39093986 + Capan-1 COSM328121 c.1682A>G p.K561R Substitution - Missense 3:39091638-39091638 + HCC2998 COSM2987325 c.1812T>G p.I604M Substitution - Missense 3:39093940-39093940 + 587342 COSM1232601 c.504A>C p.K168N Substitution - Missense 3:39068793-39068793 + B64-Tumor COSM1753194 c.1007G>C p.G336A Substitution - Missense 3:39078171-39078171 + 2492722 COSM3593766 c.1567C>T p.R523C Substitution - Missense 3:39088220-39088220 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.109778 3p21.33 612167 2455636|CGAP|BC026353|C/T|non-coding||3363|Candidate; 2455636|CGAP|BC037168|C/T|non-coding||3163|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G Missense p.I312V c.934A>G 3 39118666 BRCA A G Missense p.I346V c.1036A>G 3 39119691 CM A G Missense p.M204V c.610A>G 3 39111173 CLL A G Synonymous p.V101V c.303A>G 3 39108073 CM A T Synonymous p.V101V c.303A>T 3 39108073 RCCC C A Synonymous p.L569L c.1707C>A 3 39133154 CM C G 3-UTRSNV . c.2031+84C>G 3 39136315 RCCC C T Missense p.A334V c.1001C>T 3 39119656 STAD C T Missense p.L569F c.1705C>T 3 39133152 CM C T Missense p.R287W c.859C>T 3 39116403 CM C T Missense p.R523C c.1567C>T 3 39129711 CM C T Missense p.R673C c.2017C>T 3 39136217 BRCA C T Nonsense p.R30* c.88C>T 3 39104580 COREAD C T Nonsense p.R655* c.1963C>T 3 39136163 STAD G A Missense p.E620K c.1858G>A 3 39135477 BLCA G A Missense p.E624K c.1870G>A 3 39135489 BLCA G A Synonymous p.R13R c.39G>A 3 39093555 OV G A Synonymous p.V479V c.1437G>A 3 39127064 UCEC G C Missense p.D303H c.907G>C 3 39118639 BRCA G C Missense p.E24Q c.70G>C 3 39104562 HNSC G C Missense p.K663N c.1989G>C 3 39136189 LUSC G C Missense p.R243T c.728G>C 3 39116272 HNSC G C Missense p.W387C c.1161G>C 3 39121287 CM G C SpliceAcceptorSNV . c.1746-1G>C 3 39135364 HNSC GG AA Missense p.R13K c.38_39delinsAA 3 39093554 CM G T Missense p.A93S c.277G>T 3 39108047 NB G T Missense p.G186V c.557G>T 3 39110337 LUAD G T Missense p.V15L c.43G>T 3 39093559 BLCA T C Synonymous p.S611S c.1833T>C 3 39135452 CM T G Synonymous p.S444S c.1332T>G 3 39126186 GBM T - IntronicDeletion . c.1173+15delT 3 39121307 STAD - T SpliceDonorInsertion . c.1173+2dupT 3 39121301 BRCA