Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 12 109055859 109055862 + Frame_Shift_Del DEL TCTT TCTT - TCGA-OR-A5JY-01A-31D-A29I-10 TCGA-OR-A5JY-10A-01D-A29L-10 g.chr12:109055859_109055862delTCTT c.391_394delAAGA c.(391-396)aagagafs p.KR131fs BLCA 12 109042596 109042596 + Missense_Mutation SNP C C T TCGA-XF-A9T0-01A-11D-A391-08 TCGA-XF-A9T0-10A-01D-A394-08 g.chr12:109042596C>T c.1090G>A c.(1090-1092)Gac>Aac p.D364N BLCA 12 109052525 109052525 + Missense_Mutation SNP C C G TCGA-GC-A6I1-01A-12D-A31L-08 TCGA-GC-A6I1-10A-01D-A31J-08 g.chr12:109052525C>G c.619G>C c.(619-621)Gag>Cag p.E207Q BLCA 12 109052672 109052672 + Missense_Mutation SNP A A C TCGA-BT-A2LB-01A-11D-A18F-08 TCGA-BT-A2LB-10A-01D-A18F-08 g.chr12:109052672A>C c.472T>G c.(472-474)Tgg>Ggg p.W158G BLCA 12 109072065 109072065 + Missense_Mutation SNP C C T TCGA-FD-A62O-01A-11D-A30E-08 TCGA-FD-A62O-10A-01D-A30H-08 g.chr12:109072065C>T c.301G>A c.(301-303)Gag>Aag p.E101K BLCA 12 109095064 109095064 + Missense_Mutation SNP G G A TCGA-BT-A42C-01A-11D-A23M-08 TCGA-BT-A42C-10A-01D-A23K-08 g.chr12:109095064G>A c.31C>T c.(31-33)Cgg>Tgg p.R11W BLCA 12 109095087 109095087 + Missense_Mutation SNP C C G TCGA-E7-A3X6-01A-12D-A22Z-08 TCGA-E7-A3X6-10A-01D-A22Z-08 g.chr12:109095087C>G c.8G>C c.(7-9)cGa>cCa p.R3P BRCA 12 109041232 109041232 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr12:109041232G>C c.1372C>G c.(1372-1374)Caa>Gaa p.Q458E BRCA 12 109042522 109042522 + Missense_Mutation SNP G G C TCGA-AO-A0J9-01A-11W-A050-09 TCGA-AO-A0J9-10A-01W-A055-09 g.chr12:109042522G>C c.1164C>G c.(1162-1164)atC>atG p.I388M BRCA 12 109048134 109048134 + Missense_Mutation SNP A A C TCGA-A8-A0A6-01A-12W-A071-09 TCGA-A8-A0A6-10A-01W-A071-09 g.chr12:109048134A>C c.803T>G c.(802-804)gTg>gGg p.V268G BRCA 12 109051186 109051186 + Missense_Mutation SNP G G A TCGA-A7-A0CE-01A-11W-A019-09 TCGA-A7-A0CE-10A-01W-A021-09 g.chr12:109051186G>A c.644C>T c.(643-645)gCa>gTa p.A215V BRCA 12 109055908 109055908 + Silent SNP G G A TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr12:109055908G>A c.345C>T c.(343-345)ctC>ctT p.L115L BRCA 12 109072151 109072151 + Missense_Mutation SNP G G C TCGA-A8-A06Q-01A-11W-A050-09 TCGA-A8-A06Q-10A-01W-A055-09 g.chr12:109072151G>C c.215C>G c.(214-216)tCt>tGt p.S72C CESC 12 109051199 109051199 + Splice_Site SNP C C T TCGA-EK-A2RJ-01A-11D-A18J-09 TCGA-EK-A2RJ-10A-01D-A18J-09 g.chr12:109051199C>T c.631G>A c.(631-633)Gag>Aag p.E211K COAD 12 109041273 109041273 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:109041273A>C c.1331T>G c.(1330-1332)aTt>aGt p.I444S COAD 12 109041279 109041279 + Missense_Mutation SNP T T C TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr12:109041279T>C c.1325A>G c.(1324-1326)gAt>gGt p.D442G COAD 12 109042532 109042532 + Missense_Mutation SNP G G A TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr12:109042532G>A c.1154C>T c.(1153-1155)cCa>cTa p.P385L COAD 12 109042532 109042532 + Missense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr12:109042532G>A c.1154C>T c.(1153-1155)cCa>cTa p.P385L COAD 12 109072163 109072163 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr12:109072163C>T c.203G>A c.(202-204)cGa>cAa p.R68Q COAD 12 109094946 109094946 + Missense_Mutation SNP A A G TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr12:109094946A>G c.149T>C c.(148-150)aTa>aCa p.I50T COADREAD 12 109041273 109041273 + Missense_Mutation SNP A A C TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr12:109041273A>C c.1331T>G c.(1330-1332)aTt>aGt p.I444S COADREAD 12 109041279 109041279 + Missense_Mutation SNP T T C TCGA-CM-5860-01A-01D-1650-10 TCGA-CM-5860-10A-01D-1650-10 g.chr12:109041279T>C c.1325A>G c.(1324-1326)gAt>gGt p.D442G COADREAD 12 109042426 109042426 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:109042426G>A c.1260C>T c.(1258-1260)tgC>tgT p.C420C COADREAD 12 109042528 109042528 + Silent SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:109042528G>T c.1158C>A c.(1156-1158)atC>atA p.I386I COADREAD 12 109042532 109042532 + Missense_Mutation SNP G G A TCGA-AU-3779-01A-01D-1719-10 TCGA-AU-3779-10A-01D-1719-10 g.chr12:109042532G>A c.1154C>T c.(1153-1155)cCa>cTa p.P385L COADREAD 12 109042532 109042532 + Missense_Mutation SNP G G A TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr12:109042532G>A c.1154C>T c.(1153-1155)cCa>cTa p.P385L COADREAD 12 109042533 109042533 + Missense_Mutation SNP G G A TCGA-CL-5917-01A-11D-1657-10 TCGA-CL-5917-10A-01D-1657-10 g.chr12:109042533G>A c.1153C>T c.(1153-1155)Cca>Tca p.P385S COADREAD 12 109046145 109046145 + Missense_Mutation SNP C C T TCGA-AG-3731-01A-11D-1733-10 TCGA-AG-3731-11A-01D-1733-10 g.chr12:109046145C>T c.904G>A c.(904-906)Gtc>Atc p.V302I COADREAD 12 109072163 109072163 + Missense_Mutation SNP C C T TCGA-D5-6540-01A-11D-1719-10 TCGA-D5-6540-10A-01D-1719-10 g.chr12:109072163C>T c.203G>A c.(202-204)cGa>cAa p.R68Q COADREAD 12 109094946 109094946 + Missense_Mutation SNP A A G TCGA-CK-5913-01A-11D-1650-10 TCGA-CK-5913-10A-01D-1650-10 g.chr12:109094946A>G c.149T>C c.(148-150)aTa>aCa p.I50T GBM 12 109052586 109052586 + Silent SNP G G C TCGA-27-2524-01A-01D-1494-08 TCGA-27-2524-10A-01D-1494-08 g.chr12:109052586G>C c.558C>G c.(556-558)ggC>ggG p.G186G GBMLGG 12 109052586 109052586 + Silent SNP G G C TCGA-27-2524-01A-01D-1494-08 TCGA-27-2524-10A-01D-1494-08 g.chr12:109052586G>C c.558C>G c.(556-558)ggC>ggG p.G186G GBMLGG 12 109095064 109095064 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:109095064G>A c.31C>T c.(31-33)Cgg>Tgg p.R11W HNSC 12 109051080 109051080 + Splice_Site SNP C C T TCGA-MT-A67A-01A-11D-A30E-08 TCGA-MT-A67A-10A-01D-A30H-08 g.chr12:109051080C>T c.750G>A c.(748-750)ccG>ccA p.P250P HNSC 12 109051107 109051107 + Missense_Mutation SNP G G C TCGA-CQ-5325-01A-01D-1683-08 TCGA-CQ-5325-10A-01D-1683-08 g.chr12:109051107G>C c.723C>G c.(721-723)agC>agG p.S241R HNSC 12 109051145 109051145 + Missense_Mutation SNP C C T TCGA-CR-6472-01A-11D-1870-08 TCGA-CR-6472-10A-01D-1870-08 g.chr12:109051145C>T c.685G>A c.(685-687)Gat>Aat p.D229N LGG 12 109095064 109095064 + Missense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr12:109095064G>A c.31C>T c.(31-33)Cgg>Tgg p.R11W LIHC 12 109051082 109051083 + Missense_Mutation DNP GA GA TT TCGA-DD-AAEB-01A-11D-A40R-10 TCGA-DD-AAEB-10A-01D-A40U-10 g.chr12:109051082_109051083GA>TT c.747_748TC>AA c.(745-750)aaTCcg>aaAAcg p.249_250NP>KT LUAD 12 109042473 109042473 + Missense_Mutation SNP C C A TCGA-44-3918-01A-01D-1105-08 TCGA-44-3918-11A-01D-1105-08 g.chr12:109042473C>A c.1213G>T c.(1213-1215)Gtc>Ttc p.V405F LUAD 12 109046107 109046107 + Missense_Mutation SNP C C G TCGA-44-7661-01A-11D-2063-08 TCGA-44-7661-10A-01D-2063-08 g.chr12:109046107C>G c.942G>C c.(940-942)caG>caC p.Q314H LUAD 12 109046123 109046123 + Missense_Mutation SNP C C A TCGA-50-5930-01A-11D-1753-08 TCGA-50-5930-11A-01D-1753-08 g.chr12:109046123C>A c.926G>T c.(925-927)aGc>aTc p.S309I LUAD 12 109051145 109051145 + Missense_Mutation SNP C C T TCGA-64-1677-01A-01W-0928-08 TCGA-64-1677-10A-01W-0928-08 g.chr12:109051145C>T c.685G>A c.(685-687)Gat>Aat p.D229N LUAD 12 109052654 109052654 + Nonsense_Mutation SNP C C A TCGA-44-A47B-01A-11D-A24D-08 TCGA-44-A47B-10A-01D-A24F-08 g.chr12:109052654C>A c.490G>T c.(490-492)Gaa>Taa p.E164* LUAD 12 109052668 109052686 + Frame_Shift_Del DEL TTCCAGATGATAATGGCAT TTCCAGATGATAATGGCAT - TCGA-44-6146-01A-11D-1753-08 TCGA-44-6146-10A-01D-1753-08 g.chr12:109052668_109052686delTTCCAGATGATAATGGCAT c.458_476delATGCCATTATCATCTGGAA c.(457-477)aatgccattatcatctggaatfs p.NAIIIWN153fs LUAD 12 109055932 109055932 + Silent SNP T T C TCGA-67-3771-01A-01D-1040-01 TCGA-67-3771-10A-01D-1040-01 g.chr12:109055932T>C c.321A>G c.(319-321)gtA>gtG p.V107V LUAD 12 109094945 109094945 + Missense_Mutation SNP T T C TCGA-97-7937-01A-11D-2167-08 TCGA-97-7937-10A-01D-2167-08 g.chr12:109094945T>C c.150A>G c.(148-150)atA>atG p.I50M LUSC 12 109042780 109042780 + Nonsense_Mutation SNP C C A TCGA-46-3765-01A-01D-0983-08 TCGA-46-3765-10A-01D-0983-08 g.chr12:109042780C>A c.1018G>T c.(1018-1020)Gag>Tag p.E340* LUSC 12 109051103 109051103 + Missense_Mutation SNP G G A TCGA-39-5027-01A-21D-1817-08 TCGA-39-5027-11A-01D-1817-08 g.chr12:109051103G>A c.727C>T c.(727-729)Cgg>Tgg p.R243W LUSC 12 109052593 109052593 + Missense_Mutation SNP C C T TCGA-66-2791-01A-01D-0983-08 TCGA-66-2791-11A-01D-0983-08 g.chr12:109052593C>T c.551G>A c.(550-552)cGg>cAg p.R184Q LUSC 12 109095058 109095058 + Missense_Mutation SNP C C A TCGA-60-2724-01A-01D-1522-08 TCGA-60-2724-11A-01D-1522-08 g.chr12:109095058C>A c.37G>T c.(37-39)Gta>Tta p.V13L READ 12 109042426 109042426 + Silent SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:109042426G>A c.1260C>T c.(1258-1260)tgC>tgT p.C420C READ 12 109042528 109042528 + Silent SNP G G T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr12:109042528G>T c.1158C>A c.(1156-1158)atC>atA p.I386I READ 12 109042533 109042533 + Missense_Mutation SNP G G A TCGA-CL-5917-01A-11D-1657-10 TCGA-CL-5917-10A-01D-1657-10 g.chr12:109042533G>A c.1153C>T c.(1153-1155)Cca>Tca p.P385S READ 12 109046145 109046145 + Missense_Mutation SNP C C T TCGA-AG-3731-01A-11D-1733-10 TCGA-AG-3731-11A-01D-1733-10 g.chr12:109046145C>T c.904G>A c.(904-906)Gtc>Atc p.V302I SARC 12 109095036 109095036 + Missense_Mutation SNP T T C TCGA-Z4-AAPG-01A-11D-A38Z-09 TCGA-Z4-AAPG-10A-01D-A38Z-09 g.chr12:109095036T>C c.59A>G c.(58-60)aAt>aGt p.N20S SKCM 12 109041221 109041221 + Silent SNP A A G TCGA-DA-A3F3-06A-11D-A20D-08 TCGA-DA-A3F3-10A-01D-A20D-08 g.chr12:109041221A>G c.1383T>C c.(1381-1383)cgT>cgC p.R461R SKCM 12 109042520 109042520 + Missense_Mutation SNP G G A TCGA-EE-A3JI-06A-11D-A21A-08 TCGA-EE-A3JI-10A-01D-A21A-08 g.chr12:109042520G>A c.1166C>T c.(1165-1167)tCc>tTc p.S389F SKCM 12 109042615 109042615 + Silent SNP G G A TCGA-EE-A2ML-06A-11D-A197-08 TCGA-EE-A2ML-10A-01D-A199-08 g.chr12:109042615G>A c.1071C>T c.(1069-1071)ttC>ttT p.F357F SKCM 12 109046152 109046152 + Silent SNP G G A TCGA-EB-A5UL-06A-11D-A30X-08 TCGA-EB-A5UL-10A-01D-A30X-08 g.chr12:109046152G>A c.897C>T c.(895-897)tcC>tcT p.S299S SKCM 12 109046160 109046160 + Missense_Mutation SNP C C T TCGA-FS-A1Z3-06A-11D-A197-08 TCGA-FS-A1Z3-10A-01D-A199-08 g.chr12:109046160C>T c.889G>A c.(889-891)Gat>Aat p.D297N SKCM 12 109046188 109046188 + Silent SNP G G A TCGA-D9-A1JW-06A-11D-A19A-08 TCGA-D9-A1JW-10A-01D-A19A-08 g.chr12:109046188G>A c.861C>T c.(859-861)gaC>gaT p.D287D SKCM 12 109051152 109051152 + Silent SNP G G A TCGA-EE-A29L-06A-12D-A196-08 TCGA-EE-A29L-10A-01D-A198-08 g.chr12:109051152G>A c.678C>T c.(676-678)ttC>ttT p.F226F SKCM 12 109052620 109052620 + Missense_Mutation SNP T T A TCGA-EE-A2A6-06A-11D-A197-08 TCGA-EE-A2A6-10A-01D-A199-08 g.chr12:109052620T>A c.524A>T c.(523-525)gAc>gTc p.D175V

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 12 109094972 109094972 single base substitution G A exon_variant BLCA-CN 12 109094972 109094972 single base substitution G A intron_variant BLCA-CN 12 109094972 109094972 single base substitution G A synonymous_variant V41V 123C>T BLCA-CN 12 109094972 109094972 single base substitution G A synonymous_variant V47V 141C>T BLCA-CN 12 109094972 109094972 single base substitution G A synonymous_variant V94V 282C>T BLCA-CN 12 109094972 109094972 single base substitution G A upstream_gene_variant BLCA-US 12 109052672 109052672 single base substitution A C downstream_gene_variant BLCA-US 12 109052672 109052672 single base substitution A C intron_variant BLCA-US 12 109052672 109052672 single base substitution A C missense_variant W158G 472T>G BLCA-US 12 109052672 109052672 single base substitution A C missense_variant W164G 490T>G BLCA-US 12 109052672 109052672 single base substitution A C missense_variant W211G 631T>G BLCA-US 12 109052672 109052672 single base substitution A C missense_variant W53G 157T>G BLCA-US 12 109052672 109052672 single base substitution A C upstream_gene_variant BLCA-US 12 109095064 109095064 single base substitution G A exon_variant BLCA-US 12 109095064 109095064 single base substitution G A intron_variant BLCA-US 12 109095064 109095064 single base substitution G A missense_variant R11W 31C>T BLCA-US 12 109095064 109095064 single base substitution G A missense_variant R17W 49C>T BLCA-US 12 109095064 109095064 single base substitution G A missense_variant R64W 190C>T BLCA-US 12 109095064 109095064 single base substitution G A upstream_gene_variant BLCA-US 12 109095087 109095087 single base substitution C G exon_variant BLCA-US 12 109095087 109095087 single base substitution C G intron_variant BLCA-US 12 109095087 109095087 single base substitution C G missense_variant R3P 8G>C BLCA-US 12 109095087 109095087 single base substitution C G missense_variant R56P 167G>C BLCA-US 12 109095087 109095087 single base substitution C G missense_variant R9P 26G>C BLCA-US 12 109095087 109095087 single base substitution C G upstream_gene_variant BRCA-EU 12 109034634 109034634 single base substitution C G downstream_gene_variant BRCA-EU 12 109034726 109034726 deletion of <=200bp G - downstream_gene_variant BRCA-EU 12 109035085 109035085 single base substitution A C downstream_gene_variant BRCA-EU 12 109035336 109035339 deletion of <=200bp GTTA - downstream_gene_variant BRCA-EU 12 109037031 109037031 single base substitution C T downstream_gene_variant BRCA-EU 12 109037226 109037227 deletion of <=200bp AG - downstream_gene_variant BRCA-EU 12 109037789 109037801 deletion of <=200bp GGCCTGGACATCA - downstream_gene_variant BRCA-EU 12 109038922 109038922 single base substitution C G 3_prime_UTR_variant BRCA-EU 12 109038922 109038922 single base substitution C G downstream_gene_variant BRCA-EU 12 109042496 109042496 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 109042496 109042496 single base substitution C T downstream_gene_variant BRCA-EU 12 109042496 109042496 single base substitution C T exon_variant BRCA-EU 12 109042496 109042496 single base substitution C T missense_variant G292D 875G>A BRCA-EU 12 109042496 109042496 single base substitution C T missense_variant G397D 1190G>A BRCA-EU 12 109042496 109042496 single base substitution C T missense_variant G403D 1208G>A BRCA-EU 12 109042496 109042496 single base substitution C T missense_variant G450D 1349G>A BRCA-EU 12 109042496 109042496 single base substitution C T missense_variant G88D 263G>A BRCA-EU 12 109046145 109046145 single base substitution C T 3_prime_UTR_variant BRCA-EU 12 109046145 109046145 single base substitution C T downstream_gene_variant BRCA-EU 12 109046145 109046145 single base substitution C T exon_variant BRCA-EU 12 109046145 109046145 single base substitution C T intron_variant BRCA-EU 12 109046145 109046145 single base substitution C T missense_variant V197I 589G>A BRCA-EU 12 109046145 109046145 single base substitution C T missense_variant V302I 904G>A BRCA-EU 12 109046145 109046145 single base substitution C T missense_variant V308I 922G>A BRCA-EU 12 109046145 109046145 single base substitution C T missense_variant V355I 1063G>A BRCA-EU 12 109046145 109046145 single base substitution C T upstream_gene_variant BRCA-EU 12 109046899 109046899 single base substitution C T downstream_gene_variant BRCA-EU 12 109046899 109046899 single base substitution C T intron_variant BRCA-EU 12 109046899 109046899 single base substitution C T upstream_gene_variant BRCA-EU 12 109048094 109048094 single base substitution G C 3_prime_UTR_variant BRCA-EU 12 109048094 109048094 single base substitution G C downstream_gene_variant BRCA-EU 12 109048094 109048094 single base substitution G C exon_variant BRCA-EU 12 109048094 109048094 single base substitution G C intron_variant BRCA-EU 12 109048094 109048094 single base substitution G C stop_gained Y176* 528C>G BRCA-EU 12 109048094 109048094 single base substitution G C stop_gained Y281* 843C>G BRCA-EU 12 109048094 109048094 single base substitution G C stop_gained Y287* 861C>G BRCA-EU 12 109048094 109048094 single base substitution G C stop_gained Y334* 1002C>G BRCA-EU 12 109048094 109048094 single base substitution G C upstream_gene_variant BRCA-EU 12 109048641 109048641 single base substitution G C downstream_gene_variant BRCA-EU 12 109048641 109048641 single base substitution G C intron_variant BRCA-EU 12 109048641 109048641 single base substitution G C upstream_gene_variant BRCA-EU 12 109049467 109049467 single base substitution G T downstream_gene_variant BRCA-EU 12 109049467 109049467 single base substitution G T intron_variant BRCA-EU 12 109049467 109049467 single base substitution G T upstream_gene_variant BRCA-EU 12 109049496 109049496 single base substitution C T downstream_gene_variant BRCA-EU 12 109049496 109049496 single base substitution C T intron_variant BRCA-EU 12 109049496 109049496 single base substitution C T upstream_gene_variant BRCA-EU 12 109050420 109050420 single base substitution T C downstream_gene_variant BRCA-EU 12 109050420 109050420 single base substitution T C intron_variant BRCA-EU 12 109050420 109050420 single base substitution T C upstream_gene_variant BRCA-EU 12 109051251 109051251 single base substitution G A downstream_gene_variant BRCA-EU 12 109051251 109051251 single base substitution G A intron_variant BRCA-EU 12 109051794 109051794 single base substitution G C downstream_gene_variant BRCA-EU 12 109051794 109051794 single base substitution G C intron_variant BRCA-EU 12 109052095 109052095 single base substitution T A downstream_gene_variant BRCA-EU 12 109052095 109052095 single base substitution T A intron_variant BRCA-EU 12 109052264 109052264 single base substitution T A downstream_gene_variant BRCA-EU 12 109052264 109052264 single base substitution T A intron_variant BRCA-EU 12 109052795 109052795 insertion of <=200bp - AGAG downstream_gene_variant BRCA-EU 12 109052795 109052795 insertion of <=200bp - AGAG intron_variant BRCA-EU 12 109052795 109052795 insertion of <=200bp - AGAG upstream_gene_variant BRCA-EU 12 109053621 109053621 single base substitution A T downstream_gene_variant BRCA-EU 12 109053621 109053621 single base substitution A T intron_variant BRCA-EU 12 109053621 109053621 single base substitution A T upstream_gene_variant BRCA-EU 12 109054838 109054838 single base substitution T G downstream_gene_variant BRCA-EU 12 109054838 109054838 single base substitution T G intron_variant BRCA-EU 12 109054838 109054838 single base substitution T G upstream_gene_variant BRCA-EU 12 109055052 109055052 single base substitution T C downstream_gene_variant BRCA-EU 12 109055052 109055052 single base substitution T C intron_variant BRCA-EU 12 109055052 109055052 single base substitution T C upstream_gene_variant BRCA-EU 12 109055063 109055063 single base substitution T C downstream_gene_variant BRCA-EU 12 109055063 109055063 single base substitution T C intron_variant BRCA-EU 12 109055063 109055063 single base substitution T C upstream_gene_variant BRCA-EU 12 109055331 109055331 single base substitution T G downstream_gene_variant BRCA-EU 12 109055331 109055331 single base substitution T G intron_variant BRCA-EU 12 109055331 109055331 single base substitution T G upstream_gene_variant BRCA-EU 12 109056016 109056016 single base substitution G T intron_variant BRCA-EU 12 109056016 109056016 single base substitution G T upstream_gene_variant BRCA-EU 12 109056604 109056604 single base substitution A G intron_variant BRCA-EU 12 109056604 109056604 single base substitution A G upstream_gene_variant BRCA-EU 12 109057741 109057741 single base substitution G C intron_variant BRCA-EU 12 109059310 109059312 deletion of <=200bp ACA - intron_variant BRCA-EU 12 109060749 109060749 single base substitution G A intron_variant BRCA-EU 12 109062608 109062608 single base substitution G A intron_variant BRCA-EU 12 109063159 109063159 single base substitution G A intron_variant BRCA-EU 12 109064664 109064664 single base substitution G A intron_variant BRCA-EU 12 109064797 109064797 deletion of <=200bp A - intron_variant BRCA-EU 12 109064844 109064844 single base substitution C G intron_variant BRCA-EU 12 109065015 109065015 single base substitution G T intron_variant BRCA-EU 12 109065244 109065244 insertion of <=200bp - G intron_variant BRCA-EU 12 109065821 109065821 single base substitution G C intron_variant BRCA-EU 12 109065918 109065918 single base substitution G A intron_variant BRCA-EU 12 109066101 109066101 single base substitution C G intron_variant BRCA-EU 12 109066566 109066566 single base substitution G A intron_variant BRCA-EU 12 109067806 109067806 deletion of <=200bp A - intron_variant BRCA-EU 12 109071394 109071394 single base substitution C G intron_variant BRCA-EU 12 109073055 109073055 single base substitution A T intron_variant BRCA-EU 12 109073321 109073321 single base substitution A G intron_variant BRCA-EU 12 109074645 109074645 single base substitution A G intron_variant BRCA-EU 12 109075555 109075555 single base substitution G T intron_variant BRCA-EU 12 109075777 109075777 single base substitution T C intron_variant BRCA-EU 12 109075965 109075965 insertion of <=200bp - A intron_variant BRCA-EU 12 109077936 109077936 single base substitution G C intron_variant BRCA-EU 12 109078462 109078462 single base substitution G C intron_variant BRCA-EU 12 109079391 109079391 deletion of <=200bp A - intron_variant BRCA-EU 12 109079716 109079716 single base substitution C G intron_variant BRCA-EU 12 109085935 109085935 single base substitution T A intron_variant BRCA-EU 12 109086758 109086758 single base substitution G C intron_variant BRCA-EU 12 109087858 109087858 single base substitution G T intron_variant BRCA-EU 12 109090094 109090094 single base substitution G A downstream_gene_variant BRCA-EU 12 109090094 109090094 single base substitution G A intron_variant BRCA-EU 12 109090674 109090674 single base substitution C T downstream_gene_variant BRCA-EU 12 109090674 109090674 single base substitution C T intron_variant BRCA-EU 12 109090674 109090674 single base substitution C T upstream_gene_variant BRCA-EU 12 109091751 109091751 single base substitution T G downstream_gene_variant BRCA-EU 12 109091751 109091751 single base substitution T G intron_variant BRCA-EU 12 109091751 109091751 single base substitution T G upstream_gene_variant BRCA-EU 12 109092647 109092647 single base substitution T G downstream_gene_variant BRCA-EU 12 109092647 109092647 single base substitution T G intron_variant BRCA-EU 12 109092647 109092647 single base substitution T G upstream_gene_variant BRCA-EU 12 109093446 109093446 single base substitution G A downstream_gene_variant BRCA-EU 12 109093446 109093446 single base substitution G A intron_variant BRCA-EU 12 109093446 109093446 single base substitution G A upstream_gene_variant BRCA-EU 12 109095285 109095285 single base substitution C T exon_variant BRCA-EU 12 109095285 109095285 single base substitution C T intron_variant BRCA-EU 12 109095285 109095285 single base substitution C T upstream_gene_variant BRCA-EU 12 109096037 109096037 single base substitution A G intron_variant BRCA-EU 12 109096037 109096037 single base substitution A G upstream_gene_variant BRCA-EU 12 109098771 109098771 single base substitution G T intron_variant BRCA-EU 12 109098771 109098771 single base substitution G T upstream_gene_variant BRCA-EU 12 109098877 109098877 single base substitution C G intron_variant BRCA-EU 12 109098877 109098877 single base substitution C G upstream_gene_variant BRCA-EU 12 109100238 109100238 single base substitution T C intron_variant BRCA-EU 12 109100238 109100238 single base substitution T C upstream_gene_variant BRCA-EU 12 109105366 109105366 single base substitution G C intron_variant BRCA-EU 12 109105412 109105412 single base substitution C T intron_variant BRCA-EU 12 109105560 109105560 single base substitution A G intron_variant BRCA-EU 12 109107714 109107714 single base substitution G A intron_variant BRCA-EU 12 109108507 109108507 single base substitution C T intron_variant BRCA-EU 12 109109390 109109390 single base substitution G A intron_variant BRCA-EU 12 109110342 109110342 single base substitution G C intron_variant BRCA-EU 12 109110857 109110864 deletion of <=200bp GTAACTGA - intron_variant BRCA-EU 12 109113651 109113651 single base substitution T A intron_variant BRCA-EU 12 109113833 109113833 single base substitution A G intron_variant BRCA-EU 12 109114238 109114238 single base substitution A T intron_variant BRCA-EU 12 109114273 109114273 single base substitution G A intron_variant BRCA-EU 12 109114368 109114368 single base substitution C G intron_variant BRCA-EU 12 109114416 109114416 single base substitution C T intron_variant BRCA-EU 12 109115375 109115375 single base substitution C T intron_variant BRCA-EU 12 109115668 109115668 single base substitution C G intron_variant BRCA-EU 12 109115870 109115870 single base substitution G C intron_variant BRCA-EU 12 109116349 109116349 single base substitution G C intron_variant BRCA-EU 12 109117172 109117172 single base substitution A G intron_variant BRCA-EU 12 109117818 109117818 single base substitution G A intron_variant BRCA-EU 12 109118031 109118031 single base substitution G A intron_variant BRCA-EU 12 109118251 109118251 single base substitution G C intron_variant BRCA-EU 12 109118793 109118793 insertion of <=200bp - A intron_variant BRCA-EU 12 109119252 109119252 single base substitution G C intron_variant BRCA-EU 12 109119403 109119403 single base substitution G A intron_variant BRCA-EU 12 109120320 109120320 single base substitution T G intron_variant BRCA-EU 12 109120984 109120984 single base substitution G C intron_variant BRCA-EU 12 109121454 109121454 single base substitution A G intron_variant BRCA-EU 12 109122623 109122623 single base substitution G A intron_variant BRCA-EU 12 109123551 109123551 single base substitution T C intron_variant BRCA-EU 12 109123609 109123609 single base substitution G A intron_variant BRCA-EU 12 109124364 109124364 single base substitution C T 5_prime_UTR_variant BRCA-EU 12 109124364 109124364 single base substitution C T intron_variant BRCA-EU 12 109124364 109124364 single base substitution C T upstream_gene_variant BRCA-EU 12 109125046 109125046 single base substitution G A intron_variant BRCA-EU 12 109125046 109125046 single base substitution G A upstream_gene_variant BRCA-EU 12 109125924 109125924 single base substitution G T upstream_gene_variant BRCA-EU 12 109126144 109126144 single base substitution C T upstream_gene_variant BRCA-EU 12 109127381 109127381 deletion of <=200bp T - upstream_gene_variant BRCA-FR 12 109042404 109042404 single base substitution T A 3_prime_UTR_variant BRCA-FR 12 109042404 109042404 single base substitution T A downstream_gene_variant BRCA-FR 12 109042404 109042404 single base substitution T A exon_variant BRCA-FR 12 109042404 109042404 single base substitution T A stop_gained K119* 355A>T BRCA-FR 12 109042404 109042404 single base substitution T A stop_gained K323* 967A>T BRCA-FR 12 109042404 109042404 single base substitution T A stop_gained K428* 1282A>T BRCA-FR 12 109042404 109042404 single base substitution T A stop_gained K434* 1300A>T BRCA-FR 12 109042404 109042404 single base substitution T A stop_gained K481* 1441A>T BRCA-FR 12 109046899 109046899 single base substitution C T downstream_gene_variant BRCA-FR 12 109046899 109046899 single base substitution C T intron_variant BRCA-FR 12 109046899 109046899 single base substitution C T upstream_gene_variant BRCA-FR 12 109047859 109047859 single base substitution C G downstream_gene_variant BRCA-FR 12 109047859 109047859 single base substitution C G intron_variant BRCA-FR 12 109047859 109047859 single base substitution C G upstream_gene_variant BRCA-FR 12 109057741 109057741 single base substitution G C intron_variant BRCA-FR 12 109058387 109058387 single base substitution A T intron_variant BRCA-FR 12 109060749 109060749 single base substitution G A intron_variant BRCA-FR 12 109063159 109063159 single base substitution G A intron_variant BRCA-FR 12 109065918 109065918 single base substitution G A intron_variant BRCA-FR 12 109077936 109077936 single base substitution G C intron_variant BRCA-FR 12 109079716 109079716 single base substitution C G intron_variant BRCA-FR 12 109091691 109091691 single base substitution A G downstream_gene_variant BRCA-FR 12 109091691 109091691 single base substitution A G intron_variant BRCA-FR 12 109091691 109091691 single base substitution A G upstream_gene_variant BRCA-FR 12 109092647 109092647 single base substitution T G downstream_gene_variant BRCA-FR 12 109092647 109092647 single base substitution T G intron_variant BRCA-FR 12 109092647 109092647 single base substitution T G upstream_gene_variant BRCA-FR 12 109100352 109100352 single base substitution G A intron_variant BRCA-FR 12 109100352 109100352 single base substitution G A upstream_gene_variant BRCA-FR 12 109110342 109110342 single base substitution G C intron_variant BRCA-FR 12 109116349 109116349 single base substitution G C intron_variant BRCA-FR 12 109119252 109119252 single base substitution G C intron_variant BRCA-FR 12 109122623 109122623 single base substitution G A intron_variant BRCA-UK 12 109042496 109042496 single base substitution C T 3_prime_UTR_variant BRCA-UK 12 109042496 109042496 single base substitution C T downstream_gene_variant BRCA-UK 12 109042496 109042496 single base substitution C T exon_variant BRCA-UK 12 109042496 109042496 single base substitution C T missense_variant G292D 875G>A BRCA-UK 12 109042496 109042496 single base substitution C T missense_variant G397D 1190G>A BRCA-UK 12 109042496 109042496 single base substitution C T missense_variant G403D 1208G>A BRCA-UK 12 109042496 109042496 single base substitution C T missense_variant G450D 1349G>A BRCA-UK 12 109042496 109042496 single base substitution C T missense_variant G88D 263G>A BRCA-UK 12 109059310 109059312 deletion of <=200bp ACA - intron_variant BRCA-UK 12 109091130 109091130 single base substitution G A downstream_gene_variant BRCA-UK 12 109091130 109091130 single base substitution G A intron_variant BRCA-UK 12 109091130 109091130 single base substitution G A upstream_gene_variant BRCA-UK 12 109108911 109108911 single base substitution G C intron_variant BRCA-UK 12 109128023 109128023 single base substitution C G upstream_gene_variant BRCA-US 12 109041232 109041232 single base substitution G C 3_prime_UTR_variant BRCA-US 12 109041232 109041232 single base substitution G C downstream_gene_variant BRCA-US 12 109041232 109041232 single base substitution G C exon_variant BRCA-US 12 109041232 109041232 single base substitution G C missense_variant Q149E 445C>G BRCA-US 12 109041232 109041232 single base substitution G C missense_variant Q353E 1057C>G BRCA-US 12 109041232 109041232 single base substitution G C missense_variant Q458E 1372C>G BRCA-US 12 109041232 109041232 single base substitution G C missense_variant Q464E 1390C>G BRCA-US 12 109041232 109041232 single base substitution G C missense_variant Q511E 1531C>G BRCA-US 12 109042522 109042522 single base substitution G C 3_prime_UTR_variant BRCA-US 12 109042522 109042522 single base substitution G C downstream_gene_variant BRCA-US 12 109042522 109042522 single base substitution G C exon_variant BRCA-US 12 109042522 109042522 single base substitution G C missense_variant I283M 849C>G BRCA-US 12 109042522 109042522 single base substitution G C missense_variant I388M 1164C>G BRCA-US 12 109042522 109042522 single base substitution G C missense_variant I394M 1182C>G BRCA-US 12 109042522 109042522 single base substitution G C missense_variant I441M 1323C>G BRCA-US 12 109042522 109042522 single base substitution G C missense_variant I79M 237C>G BRCA-US 12 109048134 109048134 single base substitution A C 3_prime_UTR_variant BRCA-US 12 109048134 109048134 single base substitution A C downstream_gene_variant BRCA-US 12 109048134 109048134 single base substitution A C exon_variant BRCA-US 12 109048134 109048134 single base substitution A C intron_variant BRCA-US 12 109048134 109048134 single base substitution A C missense_variant V163G 488T>G BRCA-US 12 109048134 109048134 single base substitution A C missense_variant V268G 803T>G BRCA-US 12 109048134 109048134 single base substitution A C missense_variant V274G 821T>G BRCA-US 12 109048134 109048134 single base substitution A C missense_variant V321G 962T>G BRCA-US 12 109048134 109048134 single base substitution A C upstream_gene_variant BRCA-US 12 109051186 109051186 single base substitution G A downstream_gene_variant BRCA-US 12 109051186 109051186 single base substitution G A exon_variant BRCA-US 12 109051186 109051186 single base substitution G A intron_variant BRCA-US 12 109051186 109051186 single base substitution G A missense_variant A110V 329C>T BRCA-US 12 109051186 109051186 single base substitution G A missense_variant A215V 644C>T BRCA-US 12 109051186 109051186 single base substitution G A missense_variant A221V 662C>T BRCA-US 12 109051186 109051186 single base substitution G A missense_variant A268V 803C>T BRCA-US 12 109055908 109055908 single base substitution G A exon_variant BRCA-US 12 109055908 109055908 single base substitution G A intron_variant BRCA-US 12 109055908 109055908 single base substitution G A synonymous_variant L10L 30C>T BRCA-US 12 109055908 109055908 single base substitution G A synonymous_variant L115L 345C>T BRCA-US 12 109055908 109055908 single base substitution G A synonymous_variant L121L 363C>T BRCA-US 12 109055908 109055908 single base substitution G A synonymous_variant L168L 504C>T BRCA-US 12 109055908 109055908 single base substitution G A upstream_gene_variant BRCA-US 12 109072151 109072151 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-US 12 109072151 109072151 single base substitution G C exon_variant BRCA-US 12 109072151 109072151 single base substitution G C intron_variant BRCA-US 12 109072151 109072151 single base substitution G C missense_variant S125C 374C>G BRCA-US 12 109072151 109072151 single base substitution G C missense_variant S72C 215C>G BRCA-US 12 109072151 109072151 single base substitution G C missense_variant S78C 233C>G BTCA-JP 12 109041053 109041053 single base substitution A T 3_prime_UTR_variant BTCA-JP 12 109041053 109041053 single base substitution A T downstream_gene_variant BTCA-JP 12 109041053 109041053 single base substitution A T exon_variant BTCA-JP 12 109041053 109041053 single base substitution A T intron_variant CESC-US 12 109051199 109051199 single base substitution C T downstream_gene_variant CESC-US 12 109051199 109051199 single base substitution C T intron_variant CESC-US 12 109051199 109051199 single base substitution C T missense_variant E106K 316G>A CESC-US 12 109051199 109051199 single base substitution C T missense_variant E211K 631G>A CESC-US 12 109051199 109051199 single base substitution C T missense_variant E217K 649G>A CESC-US 12 109051199 109051199 single base substitution C T missense_variant E264K 790G>A CESC-US 12 109051199 109051199 single base substitution C T splice_region_variant CLLE-ES 12 109037207 109037210 deletion of <=200bp AACT - downstream_gene_variant CLLE-ES 12 109042391 109042391 single base substitution G C 3_prime_UTR_variant CLLE-ES 12 109042391 109042391 single base substitution G C downstream_gene_variant CLLE-ES 12 109042391 109042391 single base substitution G C exon_variant CLLE-ES 12 109042391 109042391 single base substitution G C missense_variant T123R 368C>G CLLE-ES 12 109042391 109042391 single base substitution G C missense_variant T327R 980C>G CLLE-ES 12 109042391 109042391 single base substitution G C missense_variant T432R 1295C>G CLLE-ES 12 109042391 109042391 single base substitution G C missense_variant T438R 1313C>G CLLE-ES 12 109042391 109042391 single base substitution G C missense_variant T485R 1454C>G CLLE-ES 12 109050092 109050092 single base substitution G A downstream_gene_variant CLLE-ES 12 109050092 109050092 single base substitution G A intron_variant CLLE-ES 12 109050092 109050092 single base substitution G A upstream_gene_variant CLLE-ES 12 109078547 109078547 single base substitution T C intron_variant CLLE-ES 12 109079523 109079524 deletion of <=200bp AG - intron_variant CLLE-ES 12 109083731 109083731 single base substitution A G intron_variant CLLE-ES 12 109112577 109112577 single base substitution A G intron_variant COAD-US 12 109041222 109041222 single base substitution C T 3_prime_UTR_variant COAD-US 12 109041222 109041222 single base substitution C T downstream_gene_variant COAD-US 12 109041222 109041222 single base substitution C T exon_variant COAD-US 12 109041222 109041222 single base substitution C T missense_variant R152H 455G>A COAD-US 12 109041222 109041222 single base substitution C T missense_variant R356H 1067G>A COAD-US 12 109041222 109041222 single base substitution C T missense_variant R461H 1382G>A COAD-US 12 109041222 109041222 single base substitution C T missense_variant R467H 1400G>A COAD-US 12 109041222 109041222 single base substitution C T missense_variant R514H 1541G>A COAD-US 12 109041273 109041273 single base substitution A C 3_prime_UTR_variant COAD-US 12 109041273 109041273 single base substitution A C downstream_gene_variant COAD-US 12 109041273 109041273 single base substitution A C exon_variant COAD-US 12 109041273 109041273 single base substitution A C missense_variant I135S 404T>G COAD-US 12 109041273 109041273 single base substitution A C missense_variant I339S 1016T>G COAD-US 12 109041273 109041273 single base substitution A C missense_variant I444S 1331T>G COAD-US 12 109041273 109041273 single base substitution A C missense_variant I450S 1349T>G COAD-US 12 109041273 109041273 single base substitution A C missense_variant I497S 1490T>G COAD-US 12 109072163 109072163 single base substitution C T 5_prime_UTR_variant COAD-US 12 109072163 109072163 single base substitution C T exon_variant COAD-US 12 109072163 109072163 single base substitution C T intron_variant COAD-US 12 109072163 109072163 single base substitution C T missense_variant R121Q 362G>A COAD-US 12 109072163 109072163 single base substitution C T missense_variant R68Q 203G>A COAD-US 12 109072163 109072163 single base substitution C T missense_variant R74Q 221G>A COAD-US 12 109094946 109094946 single base substitution A G exon_variant COAD-US 12 109094946 109094946 single base substitution A G intron_variant COAD-US 12 109094946 109094946 single base substitution A G missense_variant I103T 308T>C COAD-US 12 109094946 109094946 single base substitution A G missense_variant I50T 149T>C COAD-US 12 109094946 109094946 single base substitution A G missense_variant I56T 167T>C COAD-US 12 109094946 109094946 single base substitution A G upstream_gene_variant COCA-CN 12 109041031 109041031 single base substitution G C 3_prime_UTR_variant COCA-CN 12 109041031 109041031 single base substitution G C downstream_gene_variant COCA-CN 12 109041031 109041031 single base substitution G C exon_variant COCA-CN 12 109041031 109041031 single base substitution G C intron_variant COCA-CN 12 109045859 109045859 single base substitution C T exon_variant COCA-CN 12 109045859 109045859 single base substitution C T intron_variant COCA-CN 12 109045859 109045859 single base substitution C T upstream_gene_variant COCA-CN 12 109067669 109067669 single base substitution A T intron_variant COCA-CN 12 109067672 109067672 single base substitution T A intron_variant COCA-CN 12 109071940 109071940 single base substitution G A intron_variant COCA-CN 12 109096545 109096545 single base substitution G A intron_variant COCA-CN 12 109096545 109096545 single base substitution G A upstream_gene_variant EOPC-DE 12 109121136 109121136 single base substitution A C intron_variant ESAD-UK 12 109035715 109035715 single base substitution A G downstream_gene_variant ESAD-UK 12 109041954 109041954 single base substitution C T downstream_gene_variant ESAD-UK 12 109041954 109041954 single base substitution C T intron_variant ESAD-UK 12 109048291 109048291 single base substitution C T downstream_gene_variant ESAD-UK 12 109048291 109048291 single base substitution C T intron_variant ESAD-UK 12 109048291 109048291 single base substitution C T upstream_gene_variant ESAD-UK 12 109048313 109048313 deletion of <=200bp T - downstream_gene_variant ESAD-UK 12 109048313 109048313 deletion of <=200bp T - intron_variant ESAD-UK 12 109048313 109048313 deletion of <=200bp T - upstream_gene_variant ESAD-UK 12 109051115 109051115 single base substitution G A downstream_gene_variant ESAD-UK 12 109051115 109051115 single base substitution G A exon_variant ESAD-UK 12 109051115 109051115 single base substitution G A intron_variant ESAD-UK 12 109051115 109051115 single base substitution G A missense_variant R134C 400C>T ESAD-UK 12 109051115 109051115 single base substitution G A missense_variant R239C 715C>T ESAD-UK 12 109051115 109051115 single base substitution G A missense_variant R245C 733C>T ESAD-UK 12 109051115 109051115 single base substitution G A missense_variant R292C 874C>T ESAD-UK 12 109051115 109051115 single base substitution G A upstream_gene_variant ESAD-UK 12 109052763 109052763 single base substitution C T downstream_gene_variant ESAD-UK 12 109052763 109052763 single base substitution C T intron_variant ESAD-UK 12 109052763 109052763 single base substitution C T upstream_gene_variant ESAD-UK 12 109053446 109053446 single base substitution G A downstream_gene_variant ESAD-UK 12 109053446 109053446 single base substitution G A intron_variant ESAD-UK 12 109053446 109053446 single base substitution G A upstream_gene_variant ESAD-UK 12 109056390 109056390 single base substitution G A intron_variant ESAD-UK 12 109056390 109056390 single base substitution G A upstream_gene_variant ESAD-UK 12 109061255 109061255 single base substitution C G intron_variant ESAD-UK 12 109061962 109061962 single base substitution G A intron_variant ESAD-UK 12 109065293 109065294 deletion of <=200bp TA - intron_variant ESAD-UK 12 109065777 109065777 single base substitution C T intron_variant ESAD-UK 12 109066177 109066177 single base substitution G C intron_variant ESAD-UK 12 109068957 109068957 insertion of <=200bp - TA intron_variant ESAD-UK 12 109069959 109069959 single base substitution A G intron_variant ESAD-UK 12 109070698 109070698 single base substitution T C intron_variant ESAD-UK 12 109071404 109071404 single base substitution C T intron_variant ESAD-UK 12 109072664 109072664 single base substitution G C intron_variant ESAD-UK 12 109073265 109073265 single base substitution C T intron_variant ESAD-UK 12 109075024 109075024 single base substitution C A intron_variant ESAD-UK 12 109075692 109075692 single base substitution T C intron_variant ESAD-UK 12 109079889 109079889 single base substitution G A intron_variant ESAD-UK 12 109082411 109082411 single base substitution G A intron_variant ESAD-UK 12 109087857 109087857 single base substitution A G intron_variant ESAD-UK 12 109088364 109088364 single base substitution A C intron_variant ESAD-UK 12 109088810 109088810 single base substitution C T intron_variant ESAD-UK 12 109089041 109089041 single base substitution C T intron_variant ESAD-UK 12 109091757 109091757 single base substitution T A downstream_gene_variant ESAD-UK 12 109091757 109091757 single base substitution T A intron_variant ESAD-UK 12 109091757 109091757 single base substitution T A upstream_gene_variant ESAD-UK 12 109091838 109091838 single base substitution G C downstream_gene_variant ESAD-UK 12 109091838 109091838 single base substitution G C intron_variant ESAD-UK 12 109091838 109091838 single base substitution G C upstream_gene_variant ESAD-UK 12 109097423 109097423 single base substitution G A intron_variant ESAD-UK 12 109097423 109097423 single base substitution G A upstream_gene_variant ESAD-UK 12 109099185 109099185 single base substitution G A intron_variant ESAD-UK 12 109099185 109099185 single base substitution G A upstream_gene_variant ESAD-UK 12 109099192 109099192 single base substitution C T intron_variant ESAD-UK 12 109099192 109099192 single base substitution C T upstream_gene_variant ESAD-UK 12 109099720 109099720 single base substitution T C intron_variant ESAD-UK 12 109099720 109099720 single base substitution T C upstream_gene_variant ESAD-UK 12 109100287 109100287 single base substitution G T intron_variant ESAD-UK 12 109100287 109100287 single base substitution G T upstream_gene_variant ESAD-UK 12 109101246 109101246 single base substitution G A intron_variant ESAD-UK 12 109101246 109101246 single base substitution G A upstream_gene_variant ESAD-UK 12 109101743 109101743 single base substitution A C intron_variant ESAD-UK 12 109101743 109101743 single base substitution A C upstream_gene_variant ESAD-UK 12 109102984 109102984 insertion of <=200bp - A intron_variant ESAD-UK 12 109103646 109103646 single base substitution G A intron_variant ESAD-UK 12 109104151 109104151 single base substitution C A intron_variant ESAD-UK 12 109108057 109108057 single base substitution C T intron_variant ESAD-UK 12 109108407 109108407 single base substitution G A intron_variant ESAD-UK 12 109110822 109110822 single base substitution G A intron_variant ESAD-UK 12 109113830 109113830 single base substitution C T intron_variant ESAD-UK 12 109114182 109114182 single base substitution G A intron_variant ESAD-UK 12 109115545 109115545 single base substitution G A intron_variant ESAD-UK 12 109118612 109118612 single base substitution C G intron_variant ESAD-UK 12 109121788 109121788 single base substitution G A intron_variant ESAD-UK 12 109123750 109123750 single base substitution T A intron_variant ESAD-UK 12 109125377 109125377 single base substitution C T upstream_gene_variant ESAD-UK 12 109125476 109125476 single base substitution C T upstream_gene_variant ESAD-UK 12 109128197 109128197 single base substitution A T upstream_gene_variant ESAD-UK 12 109128353 109128353 single base substitution T C upstream_gene_variant ESAD-UK 12 109128358 109128358 single base substitution T A upstream_gene_variant ESAD-UK 12 109128831 109128831 single base substitution G A upstream_gene_variant ESAD-UK 12 109129973 109129973 single base substitution G A upstream_gene_variant GBM-US 12 109052586 109052586 single base substitution G C downstream_gene_variant GBM-US 12 109052586 109052586 single base substitution G C exon_variant GBM-US 12 109052586 109052586 single base substitution G C intron_variant GBM-US 12 109052586 109052586 single base substitution G C synonymous_variant G186G 558C>G GBM-US 12 109052586 109052586 single base substitution G C synonymous_variant G192G 576C>G GBM-US 12 109052586 109052586 single base substitution G C synonymous_variant G239G 717C>G GBM-US 12 109052586 109052586 single base substitution G C synonymous_variant G81G 243C>G LAML-KR 12 109050118 109050118 single base substitution T G downstream_gene_variant LAML-KR 12 109050118 109050118 single base substitution T G intron_variant LAML-KR 12 109050118 109050118 single base substitution T G upstream_gene_variant LAML-KR 12 109081714 109081714 single base substitution G T intron_variant LICA-FR 12 109039744 109039744 single base substitution T C 3_prime_UTR_variant LICA-FR 12 109039744 109039744 single base substitution T C downstream_gene_variant LICA-FR 12 109051776 109051776 single base substitution A G downstream_gene_variant LICA-FR 12 109051776 109051776 single base substitution A G intron_variant LICA-FR 12 109094942 109094942 single base substitution C T exon_variant LICA-FR 12 109094942 109094942 single base substitution C T intron_variant LICA-FR 12 109094942 109094942 single base substitution C T synonymous_variant E104E 312G>A LICA-FR 12 109094942 109094942 single base substitution C T synonymous_variant E51E 153G>A LICA-FR 12 109094942 109094942 single base substitution C T synonymous_variant E57E 171G>A LICA-FR 12 109094942 109094942 single base substitution C T upstream_gene_variant LICA-FR 12 109121159 109121159 single base substitution A T intron_variant LIHC-US 12 109055931 109055931 single base substitution A G exon_variant LIHC-US 12 109055931 109055931 single base substitution A G intron_variant LIHC-US 12 109055931 109055931 single base substitution A G missense_variant W108R 322T>C LIHC-US 12 109055931 109055931 single base substitution A G missense_variant W114R 340T>C LIHC-US 12 109055931 109055931 single base substitution A G missense_variant W161R 481T>C LIHC-US 12 109055931 109055931 single base substitution A G missense_variant W3R 7T>C LIHC-US 12 109055931 109055931 single base substitution A G upstream_gene_variant LIHC-US 12 109095009 109095009 single base substitution A G exon_variant LIHC-US 12 109095009 109095009 single base substitution A G intron_variant LIHC-US 12 109095009 109095009 single base substitution A G missense_variant V29A 86T>C LIHC-US 12 109095009 109095009 single base substitution A G missense_variant V35A 104T>C LIHC-US 12 109095009 109095009 single base substitution A G missense_variant V82A 245T>C LIHC-US 12 109095009 109095009 single base substitution A G upstream_gene_variant LINC-JP 12 109045526 109045526 single base substitution T C downstream_gene_variant LINC-JP 12 109045526 109045526 single base substitution T C intron_variant LINC-JP 12 109045526 109045526 single base substitution T C upstream_gene_variant LINC-JP 12 109045848 109045851 deletion of <=200bp GAGA - exon_variant LINC-JP 12 109045848 109045851 deletion of <=200bp GAGA - intron_variant LINC-JP 12 109045848 109045851 deletion of <=200bp GAGA - upstream_gene_variant LINC-JP 12 109046331 109046331 single base substitution G C downstream_gene_variant LINC-JP 12 109046331 109046331 single base substitution G C intron_variant LINC-JP 12 109046331 109046331 single base substitution G C upstream_gene_variant LINC-JP 12 109050127 109050127 single base substitution A G downstream_gene_variant LINC-JP 12 109050127 109050127 single base substitution A G intron_variant LINC-JP 12 109050127 109050127 single base substitution A G upstream_gene_variant LINC-JP 12 109050415 109050415 single base substitution T C downstream_gene_variant LINC-JP 12 109050415 109050415 single base substitution T C intron_variant LINC-JP 12 109050415 109050415 single base substitution T C upstream_gene_variant LINC-JP 12 109052784 109052784 single base substitution T A downstream_gene_variant LINC-JP 12 109052784 109052784 single base substitution T A intron_variant LINC-JP 12 109052784 109052784 single base substitution T A upstream_gene_variant LINC-JP 12 109061777 109061777 single base substitution T C intron_variant LINC-JP 12 109063157 109063157 single base substitution T C intron_variant LINC-JP 12 109101121 109101121 single base substitution T C intron_variant LINC-JP 12 109101121 109101121 single base substitution T C upstream_gene_variant LINC-JP 12 109117789 109117789 single base substitution G C intron_variant LIRI-JP 12 109036727 109036727 single base substitution T C downstream_gene_variant LIRI-JP 12 109038018 109038018 single base substitution G T downstream_gene_variant LIRI-JP 12 109041769 109041776 deletion of <=200bp CACTCCTT - downstream_gene_variant LIRI-JP 12 109041769 109041776 deletion of <=200bp CACTCCTT - intron_variant LIRI-JP 12 109041785 109041792 deletion of <=200bp CCCAGGAC - downstream_gene_variant LIRI-JP 12 109041785 109041792 deletion of <=200bp CCCAGGAC - intron_variant LIRI-JP 12 109043152 109043152 single base substitution G A downstream_gene_variant LIRI-JP 12 109043152 109043152 single base substitution G A exon_variant LIRI-JP 12 109043152 109043152 single base substitution G A intron_variant LIRI-JP 12 109045787 109045787 single base substitution C A downstream_gene_variant LIRI-JP 12 109045787 109045787 single base substitution C A intron_variant LIRI-JP 12 109045787 109045787 single base substitution C A upstream_gene_variant LIRI-JP 12 109049045 109049045 single base substitution T C downstream_gene_variant LIRI-JP 12 109049045 109049045 single base substitution T C intron_variant LIRI-JP 12 109049045 109049045 single base substitution T C upstream_gene_variant LIRI-JP 12 109051157 109051157 single base substitution T C downstream_gene_variant LIRI-JP 12 109051157 109051157 single base substitution T C exon_variant LIRI-JP 12 109051157 109051157 single base substitution T C intron_variant LIRI-JP 12 109051157 109051157 single base substitution T C missense_variant I120V 358A>G LIRI-JP 12 109051157 109051157 single base substitution T C missense_variant I225V 673A>G LIRI-JP 12 109051157 109051157 single base substitution T C missense_variant I231V 691A>G LIRI-JP 12 109051157 109051157 single base substitution T C missense_variant I278V 832A>G LIRI-JP 12 109051745 109051745 single base substitution T C downstream_gene_variant LIRI-JP 12 109051745 109051745 single base substitution T C intron_variant LIRI-JP 12 109051763 109051763 insertion of <=200bp - A downstream_gene_variant LIRI-JP 12 109051763 109051763 insertion of <=200bp - A intron_variant LIRI-JP 12 109052715 109052715 single base substitution C A downstream_gene_variant LIRI-JP 12 109052715 109052715 single base substitution C A intron_variant LIRI-JP 12 109052715 109052715 single base substitution C A upstream_gene_variant LIRI-JP 12 109054603 109054603 single base substitution C A downstream_gene_variant LIRI-JP 12 109054603 109054603 single base substitution C A intron_variant LIRI-JP 12 109054603 109054603 single base substitution C A upstream_gene_variant LIRI-JP 12 109057786 109057786 single base substitution A C intron_variant LIRI-JP 12 109057908 109057908 deletion of <=200bp A - intron_variant LIRI-JP 12 109058924 109058944 deletion of <=200bp AAAATATGAGGGCAGAAGCAG - intron_variant LIRI-JP 12 109060905 109060905 single base substitution T C intron_variant LIRI-JP 12 109061698 109061698 single base substitution T C intron_variant LIRI-JP 12 109063302 109063302 single base substitution C A intron_variant LIRI-JP 12 109063794 109063794 single base substitution C T intron_variant LIRI-JP 12 109065788 109065788 single base substitution C T intron_variant LIRI-JP 12 109067198 109067198 single base substitution G C intron_variant LIRI-JP 12 109067222 109067222 single base substitution T C intron_variant LIRI-JP 12 109068203 109068203 single base substitution A T intron_variant LIRI-JP 12 109069134 109069134 single base substitution A G intron_variant LIRI-JP 12 109069955 109069955 single base substitution G T intron_variant LIRI-JP 12 109075284 109075284 single base substitution A C intron_variant LIRI-JP 12 109077673 109077673 single base substitution T C intron_variant LIRI-JP 12 109078289 109078289 single base substitution T C intron_variant LIRI-JP 12 109079800 109079800 single base substitution A G intron_variant LIRI-JP 12 109081345 109081345 single base substitution G T intron_variant LIRI-JP 12 109083515 109083515 single base substitution C A intron_variant LIRI-JP 12 109088965 109088965 single base substitution T A intron_variant LIRI-JP 12 109092982 109092982 single base substitution C G downstream_gene_variant LIRI-JP 12 109092982 109092982 single base substitution C G intron_variant LIRI-JP 12 109092982 109092982 single base substitution C G upstream_gene_variant LIRI-JP 12 109094599 109094625 deletion of <=200bp GAAAAGCAGATGATTAAGAATGAAATC - downstream_gene_variant LIRI-JP 12 109094599 109094625 deletion of <=200bp GAAAAGCAGATGATTAAGAATGAAATC - intron_variant LIRI-JP 12 109094599 109094625 deletion of <=200bp GAAAAGCAGATGATTAAGAATGAAATC - upstream_gene_variant LIRI-JP 12 109095848 109095848 single base substitution T C intron_variant LIRI-JP 12 109095848 109095848 single base substitution T C upstream_gene_variant LIRI-JP 12 109097019 109097019 single base substitution C A intron_variant LIRI-JP 12 109097019 109097019 single base substitution C A upstream_gene_variant LIRI-JP 12 109098803 109098803 deletion of <=200bp A - intron_variant LIRI-JP 12 109098803 109098803 deletion of <=200bp A - upstream_gene_variant LIRI-JP 12 109098989 109098989 single base substitution T C intron_variant LIRI-JP 12 109098989 109098989 single base substitution T C upstream_gene_variant LIRI-JP 12 109099888 109099888 single base substitution G A intron_variant LIRI-JP 12 109099888 109099888 single base substitution G A upstream_gene_variant LIRI-JP 12 109104153 109104153 single base substitution T A intron_variant LIRI-JP 12 109108637 109108637 single base substitution T C intron_variant LIRI-JP 12 109111541 109111541 single base substitution G C intron_variant LIRI-JP 12 109112098 109112098 single base substitution C G intron_variant LIRI-JP 12 109114464 109114464 single base substitution T A intron_variant LIRI-JP 12 109115566 109115566 single base substitution T A intron_variant LIRI-JP 12 109118460 109118460 single base substitution T C intron_variant LIRI-JP 12 109119665 109119665 single base substitution G A intron_variant LIRI-JP 12 109122881 109122881 single base substitution T G intron_variant LIRI-JP 12 109123059 109123059 single base substitution T G intron_variant LIRI-JP 12 109123277 109123277 single base substitution T C intron_variant LIRI-JP 12 109124135 109124135 single base substitution C A 5_prime_UTR_variant LIRI-JP 12 109124135 109124135 single base substitution C A intron_variant LIRI-JP 12 109124136 109124136 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 12 109124136 109124136 single base substitution C A intron_variant LIRI-JP 12 109130033 109130033 single base substitution C T upstream_gene_variant LUSC-KR 12 109035451 109035451 single base substitution C T downstream_gene_variant LUSC-KR 12 109043813 109043813 single base substitution G T downstream_gene_variant LUSC-KR 12 109043813 109043813 single base substitution G T intron_variant LUSC-KR 12 109043813 109043813 single base substitution G T upstream_gene_variant LUSC-KR 12 109043983 109043983 single base substitution G T downstream_gene_variant LUSC-KR 12 109043983 109043983 single base substitution G T intron_variant LUSC-KR 12 109043983 109043983 single base substitution G T upstream_gene_variant LUSC-KR 12 109047914 109047914 single base substitution C A downstream_gene_variant LUSC-KR 12 109047914 109047914 single base substitution C A intron_variant LUSC-KR 12 109047914 109047914 single base substitution C A upstream_gene_variant LUSC-KR 12 109047945 109047945 single base substitution C G downstream_gene_variant LUSC-KR 12 109047945 109047945 single base substitution C G intron_variant LUSC-KR 12 109047945 109047945 single base substitution C G upstream_gene_variant LUSC-KR 12 109049873 109049873 single base substitution T C downstream_gene_variant LUSC-KR 12 109049873 109049873 single base substitution T C intron_variant LUSC-KR 12 109049873 109049873 single base substitution T C upstream_gene_variant LUSC-KR 12 109049965 109049965 single base substitution G A downstream_gene_variant LUSC-KR 12 109049965 109049965 single base substitution G A intron_variant LUSC-KR 12 109049965 109049965 single base substitution G A upstream_gene_variant LUSC-KR 12 109049975 109049975 single base substitution A G downstream_gene_variant LUSC-KR 12 109049975 109049975 single base substitution A G intron_variant LUSC-KR 12 109049975 109049975 single base substitution A G upstream_gene_variant LUSC-KR 12 109050118 109050118 single base substitution T G downstream_gene_variant LUSC-KR 12 109050118 109050118 single base substitution T G intron_variant LUSC-KR 12 109050118 109050118 single base substitution T G upstream_gene_variant LUSC-KR 12 109054028 109054028 single base substitution G A downstream_gene_variant LUSC-KR 12 109054028 109054028 single base substitution G A intron_variant LUSC-KR 12 109054028 109054028 single base substitution G A upstream_gene_variant LUSC-KR 12 109062595 109062595 single base substitution C A intron_variant LUSC-KR 12 109064161 109064161 single base substitution C A intron_variant LUSC-KR 12 109064285 109064285 single base substitution A T intron_variant LUSC-KR 12 109072080 109072080 single base substitution T C 5_prime_UTR_variant LUSC-KR 12 109072080 109072080 single base substitution T C exon_variant LUSC-KR 12 109072080 109072080 single base substitution T C intron_variant LUSC-KR 12 109072080 109072080 single base substitution T C missense_variant I102V 304A>G LUSC-KR 12 109072080 109072080 single base substitution T C missense_variant I149V 445A>G LUSC-KR 12 109072080 109072080 single base substitution T C missense_variant I96V 286A>G LUSC-KR 12 109073062 109073062 single base substitution C A intron_variant LUSC-KR 12 109079957 109079957 single base substitution G T intron_variant LUSC-KR 12 109081397 109081397 single base substitution C A intron_variant LUSC-KR 12 109084848 109084848 single base substitution T C intron_variant LUSC-KR 12 109086383 109086383 single base substitution T C intron_variant LUSC-KR 12 109089894 109089894 single base substitution T A downstream_gene_variant LUSC-KR 12 109089894 109089894 single base substitution T A intron_variant LUSC-KR 12 109090291 109090291 single base substitution G C downstream_gene_variant LUSC-KR 12 109090291 109090291 single base substitution G C intron_variant LUSC-KR 12 109090291 109090291 single base substitution G C upstream_gene_variant LUSC-KR 12 109095137 109095137 single base substitution A G intron_variant LUSC-KR 12 109095137 109095137 single base substitution A G upstream_gene_variant LUSC-KR 12 109100277 109100277 single base substitution C A intron_variant LUSC-KR 12 109100277 109100277 single base substitution C A upstream_gene_variant LUSC-KR 12 109100998 109100998 single base substitution T A intron_variant LUSC-KR 12 109100998 109100998 single base substitution T A upstream_gene_variant LUSC-KR 12 109103696 109103696 single base substitution C A intron_variant LUSC-KR 12 109105762 109105762 single base substitution C A intron_variant LUSC-KR 12 109106336 109106336 single base substitution G A intron_variant LUSC-KR 12 109112362 109112362 single base substitution C T intron_variant LUSC-KR 12 109112430 109112430 single base substitution T C intron_variant LUSC-KR 12 109113372 109113372 single base substitution A C intron_variant LUSC-KR 12 109114587 109114587 single base substitution C A intron_variant LUSC-KR 12 109117336 109117336 single base substitution C T intron_variant LUSC-KR 12 109119506 109119506 single base substitution G C intron_variant LUSC-KR 12 109122860 109122860 single base substitution G C intron_variant LUSC-KR 12 109125434 109125434 single base substitution C T upstream_gene_variant LUSC-KR 12 109126370 109126370 single base substitution G C upstream_gene_variant LUSC-KR 12 109127587 109127587 single base substitution G T upstream_gene_variant LUSC-KR 12 109128483 109128483 single base substitution G C upstream_gene_variant LUSC-US 12 109042780 109042780 single base substitution C A 3_prime_UTR_variant LUSC-US 12 109042780 109042780 single base substitution C A downstream_gene_variant LUSC-US 12 109042780 109042780 single base substitution C A exon_variant LUSC-US 12 109042780 109042780 single base substitution C A intron_variant LUSC-US 12 109042780 109042780 single base substitution C A stop_gained E235* 703G>T LUSC-US 12 109042780 109042780 single base substitution C A stop_gained E31* 91G>T LUSC-US 12 109042780 109042780 single base substitution C A stop_gained E340* 1018G>T LUSC-US 12 109042780 109042780 single base substitution C A stop_gained E346* 1036G>T LUSC-US 12 109042780 109042780 single base substitution C A stop_gained E393* 1177G>T LUSC-US 12 109051103 109051103 single base substitution G A downstream_gene_variant LUSC-US 12 109051103 109051103 single base substitution G A exon_variant LUSC-US 12 109051103 109051103 single base substitution G A intron_variant LUSC-US 12 109051103 109051103 single base substitution G A missense_variant R138W 412C>T LUSC-US 12 109051103 109051103 single base substitution G A missense_variant R243W 727C>T LUSC-US 12 109051103 109051103 single base substitution G A missense_variant R249W 745C>T LUSC-US 12 109051103 109051103 single base substitution G A missense_variant R296W 886C>T LUSC-US 12 109051103 109051103 single base substitution G A upstream_gene_variant LUSC-US 12 109052593 109052593 single base substitution C T downstream_gene_variant LUSC-US 12 109052593 109052593 single base substitution C T exon_variant LUSC-US 12 109052593 109052593 single base substitution C T intron_variant LUSC-US 12 109052593 109052593 single base substitution C T missense_variant R184Q 551G>A LUSC-US 12 109052593 109052593 single base substitution C T missense_variant R190Q 569G>A LUSC-US 12 109052593 109052593 single base substitution C T missense_variant R237Q 710G>A LUSC-US 12 109052593 109052593 single base substitution C T missense_variant R79Q 236G>A LUSC-US 12 109095058 109095058 single base substitution C A exon_variant LUSC-US 12 109095058 109095058 single base substitution C A intron_variant LUSC-US 12 109095058 109095058 single base substitution C A missense_variant V13L 37G>T LUSC-US 12 109095058 109095058 single base substitution C A missense_variant V19L 55G>T LUSC-US 12 109095058 109095058 single base substitution C A missense_variant V66L 196G>T LUSC-US 12 109095058 109095058 single base substitution C A upstream_gene_variant MALY-DE 12 109035494 109035494 single base substitution G A downstream_gene_variant MALY-DE 12 109041165 109041165 single base substitution T C 3_prime_UTR_variant MALY-DE 12 109041165 109041165 single base substitution T C downstream_gene_variant MALY-DE 12 109041165 109041165 single base substitution T C exon_variant MALY-DE 12 109041165 109041165 single base substitution T C intron_variant MALY-DE 12 109044702 109044702 deletion of <=200bp A - downstream_gene_variant MALY-DE 12 109044702 109044702 deletion of <=200bp A - intron_variant MALY-DE 12 109044702 109044702 deletion of <=200bp A - upstream_gene_variant MALY-DE 12 109047655 109047655 single base substitution C G downstream_gene_variant MALY-DE 12 109047655 109047655 single base substitution C G intron_variant MALY-DE 12 109047655 109047655 single base substitution C G upstream_gene_variant MALY-DE 12 109062185 109062185 single base substitution T C intron_variant MALY-DE 12 109072444 109072444 single base substitution A G intron_variant MALY-DE 12 109078651 109078651 single base substitution T A intron_variant MALY-DE 12 109088231 109088231 single base substitution T A intron_variant MALY-DE 12 109090290 109090290 single base substitution C T downstream_gene_variant MALY-DE 12 109090290 109090290 single base substitution C T intron_variant MALY-DE 12 109090290 109090290 single base substitution C T upstream_gene_variant MALY-DE 12 109100378 109100379 deletion of <=200bp TT - intron_variant MALY-DE 12 109100378 109100379 deletion of <=200bp TT - upstream_gene_variant MALY-DE 12 109104527 109104527 single base substitution A G intron_variant MALY-DE 12 109109444 109109444 insertion of <=200bp - GCAGAACCATATAAAATCGCCTGA intron_variant MALY-DE 12 109115356 109115356 single base substitution T A intron_variant MALY-DE 12 109119588 109119588 single base substitution T A intron_variant MELA-AU 12 109036421 109036421 single base substitution G A downstream_gene_variant MELA-AU 12 109039436 109039436 single base substitution G A 3_prime_UTR_variant MELA-AU 12 109039436 109039436 single base substitution G A downstream_gene_variant MELA-AU 12 109040736 109040736 single base substitution G A 3_prime_UTR_variant MELA-AU 12 109040736 109040736 single base substitution G A downstream_gene_variant MELA-AU 12 109040736 109040736 single base substitution G A intron_variant MELA-AU 12 109040852 109040852 single base substitution G A 3_prime_UTR_variant MELA-AU 12 109040852 109040852 single base substitution G A downstream_gene_variant MELA-AU 12 109040852 109040852 single base substitution G A exon_variant MELA-AU 12 109040852 109040852 single base substitution G A intron_variant MELA-AU 12 109041162 109041162 single base substitution G A 3_prime_UTR_variant MELA-AU 12 109041162 109041162 single base substitution G A downstream_gene_variant MELA-AU 12 109041162 109041162 single base substitution G A exon_variant MELA-AU 12 109041162 109041162 single base substitution G A intron_variant MELA-AU 12 109041576 109041576 single base substitution G A downstream_gene_variant MELA-AU 12 109041576 109041576 single base substitution G A intron_variant MELA-AU 12 109041790 109041790 single base substitution G A downstream_gene_variant MELA-AU 12 109041790 109041790 single base substitution G A intron_variant MELA-AU 12 109042112 109042112 single base substitution G A downstream_gene_variant MELA-AU 12 109042112 109042112 single base substitution G A intron_variant MELA-AU 12 109042198 109042198 single base substitution G T downstream_gene_variant MELA-AU 12 109042198 109042198 single base substitution G T intron_variant MELA-AU 12 109042422 109042422 single base substitution G A 3_prime_UTR_variant MELA-AU 12 109042422 109042422 single base substitution G A downstream_gene_variant MELA-AU 12 109042422 109042422 single base substitution G A exon_variant MELA-AU 12 109042422 109042422 single base substitution G A synonymous_variant L113L 337C>T MELA-AU 12 109042422 109042422 single base substitution G A synonymous_variant L317L 949C>T MELA-AU 12 109042422 109042422 single base substitution G A synonymous_variant L422L 1264C>T MELA-AU 12 109042422 109042422 single base substitution G A synonymous_variant L428L 1282C>T MELA-AU 12 109042422 109042422 single base substitution G A synonymous_variant L475L 1423C>T MELA-AU 12 109042615 109042615 single base substitution G A 3_prime_UTR_variant MELA-AU 12 109042615 109042615 single base substitution G A downstream_gene_variant MELA-AU 12 109042615 109042615 single base substitution G A exon_variant MELA-AU 12 109042615 109042615 single base substitution G A synonymous_variant F252F 756C>T MELA-AU 12 109042615 109042615 single base substitution G A synonymous_variant F357F 1071C>T MELA-AU 12 109042615 109042615 single base substitution G A synonymous_variant F363F 1089C>T MELA-AU 12 109042615 109042615 single base substitution G A synonymous_variant F410F 1230C>T MELA-AU 12 109042615 109042615 single base substitution G A synonymous_variant F48F 144C>T MELA-AU 12 109042674 109042674 single base substitution G A downstream_gene_variant MELA-AU 12 109042674 109042674 single base substitution G A intron_variant MELA-AU 12 109042675 109042675 single base substitution G A downstream_gene_variant MELA-AU 12 109042675 109042675 single base substitution G A intron_variant MELA-AU 12 109042926 109042926 single base substitution C T downstream_gene_variant MELA-AU 12 109042926 109042926 single base substitution C T exon_variant MELA-AU 12 109042926 109042926 single base substitution C T intron_variant MELA-AU 12 109043565 109043565 single base substitution C T downstream_gene_variant MELA-AU 12 109043565 109043565 single base substitution C T intron_variant MELA-AU 12 109043565 109043565 single base substitution C T upstream_gene_variant MELA-AU 12 109043834 109043834 single base substitution A G downstream_gene_variant MELA-AU 12 109043834 109043834 single base substitution A G intron_variant MELA-AU 12 109043834 109043834 single base substitution A G upstream_gene_variant MELA-AU 12 109044189 109044189 single base substitution C A downstream_gene_variant MELA-AU 12 109044189 109044189 single base substitution C A intron_variant MELA-AU 12 109044189 109044189 single base substitution C A upstream_gene_variant MELA-AU 12 109044517 109044517 single base substitution A G downstream_gene_variant MELA-AU 12 109044517 109044517 single base substitution A G intron_variant MELA-AU 12 109044517 109044517 single base substitution A G upstream_gene_variant MELA-AU 12 109044715 109044715 single base substitution C T downstream_gene_variant MELA-AU 12 109044715 109044715 single base substitution C T intron_variant MELA-AU 12 109044715 109044715 single base substitution C T upstream_gene_variant MELA-AU 12 109044913 109044913 single base substitution G A downstream_gene_variant MELA-AU 12 109044913 109044913 single base substitution G A intron_variant MELA-AU 12 109044913 109044913 single base substitution G A upstream_gene_variant MELA-AU 12 109044959 109044959 single base substitution G A downstream_gene_variant MELA-AU 12 109044959 109044959 single base substitution G A intron_variant MELA-AU 12 109044959 109044959 single base substitution G A upstream_gene_variant MELA-AU 12 109045315 109045316 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 12 109045315 109045316 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 109045315 109045316 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 12 109045393 109045393 single base substitution G A downstream_gene_variant MELA-AU 12 109045393 109045393 single base substitution G A intron_variant MELA-AU 12 109045393 109045393 single base substitution G A upstream_gene_variant MELA-AU 12 109046178 109046178 single base substitution G A 3_prime_UTR_variant MELA-AU 12 109046178 109046178 single base substitution G A downstream_gene_variant MELA-AU 12 109046178 109046178 single base substitution G A exon_variant MELA-AU 12 109046178 109046178 single base substitution G A intron_variant MELA-AU 12 109046178 109046178 single base substitution G A missense_variant R186C 556C>T MELA-AU 12 109046178 109046178 single base substitution G A missense_variant R291C 871C>T MELA-AU 12 109046178 109046178 single base substitution G A missense_variant R297C 889C>T MELA-AU 12 109046178 109046178 single base substitution G A missense_variant R344C 1030C>T MELA-AU 12 109046178 109046178 single base substitution G A upstream_gene_variant MELA-AU 12 109046417 109046417 single base substitution T C downstream_gene_variant MELA-AU 12 109046417 109046417 single base substitution T C intron_variant MELA-AU 12 109046417 109046417 single base substitution T C upstream_gene_variant MELA-AU 12 109046578 109046578 single base substitution T G downstream_gene_variant MELA-AU 12 109046578 109046578 single base substitution T G intron_variant MELA-AU 12 109046578 109046578 single base substitution T G upstream_gene_variant MELA-AU 12 109046624 109046624 single base substitution G A downstream_gene_variant MELA-AU 12 109046624 109046624 single base substitution G A intron_variant MELA-AU 12 109046624 109046624 single base substitution G A upstream_gene_variant MELA-AU 12 109048187 109048187 single base substitution C T downstream_gene_variant MELA-AU 12 109048187 109048187 single base substitution C T intron_variant MELA-AU 12 109048187 109048187 single base substitution C T splice_acceptor_variant MELA-AU 12 109048187 109048187 single base substitution C T upstream_gene_variant MELA-AU 12 109049541 109049541 single base substitution C T downstream_gene_variant MELA-AU 12 109049541 109049541 single base substitution C T intron_variant MELA-AU 12 109049541 109049541 single base substitution C T upstream_gene_variant MELA-AU 12 109050107 109050107 single base substitution G A downstream_gene_variant MELA-AU 12 109050107 109050107 single base substitution G A intron_variant MELA-AU 12 109050107 109050107 single base substitution G A upstream_gene_variant MELA-AU 12 109050162 109050162 single base substitution G A downstream_gene_variant MELA-AU 12 109050162 109050162 single base substitution G A intron_variant MELA-AU 12 109050162 109050162 single base substitution G A upstream_gene_variant MELA-AU 12 109050674 109050674 single base substitution G A downstream_gene_variant MELA-AU 12 109050674 109050674 single base substitution G A intron_variant MELA-AU 12 109050674 109050674 single base substitution G A upstream_gene_variant MELA-AU 12 109051152 109051152 single base substitution G A downstream_gene_variant MELA-AU 12 109051152 109051152 single base substitution G A exon_variant MELA-AU 12 109051152 109051152 single base substitution G A intron_variant MELA-AU 12 109051152 109051152 single base substitution G A synonymous_variant F121F 363C>T MELA-AU 12 109051152 109051152 single base substitution G A synonymous_variant F226F 678C>T MELA-AU 12 109051152 109051152 single base substitution G A synonymous_variant F232F 696C>T MELA-AU 12 109051152 109051152 single base substitution G A synonymous_variant F279F 837C>T MELA-AU 12 109051256 109051256 single base substitution G A downstream_gene_variant MELA-AU 12 109051256 109051256 single base substitution G A intron_variant MELA-AU 12 109051996 109051996 single base substitution A G downstream_gene_variant MELA-AU 12 109051996 109051996 single base substitution A G intron_variant MELA-AU 12 109052001 109052001 single base substitution T C downstream_gene_variant MELA-AU 12 109052001 109052001 single base substitution T C intron_variant MELA-AU 12 109052771 109052771 single base substitution G A downstream_gene_variant MELA-AU 12 109052771 109052771 single base substitution G A intron_variant MELA-AU 12 109052771 109052771 single base substitution G A upstream_gene_variant MELA-AU 12 109053081 109053081 single base substitution A G downstream_gene_variant MELA-AU 12 109053081 109053081 single base substitution A G intron_variant MELA-AU 12 109053081 109053081 single base substitution A G upstream_gene_variant MELA-AU 12 109053222 109053222 single base substitution G A downstream_gene_variant MELA-AU 12 109053222 109053222 single base substitution G A intron_variant MELA-AU 12 109053222 109053222 single base substitution G A upstream_gene_variant MELA-AU 12 109055055 109055055 single base substitution G A downstream_gene_variant MELA-AU 12 109055055 109055055 single base substitution G A intron_variant MELA-AU 12 109055055 109055055 single base substitution G A upstream_gene_variant MELA-AU 12 109055198 109055198 single base substitution A G downstream_gene_variant MELA-AU 12 109055198 109055198 single base substitution A G intron_variant MELA-AU 12 109055198 109055198 single base substitution A G upstream_gene_variant MELA-AU 12 109055588 109055588 single base substitution C T downstream_gene_variant MELA-AU 12 109055588 109055588 single base substitution C T intron_variant MELA-AU 12 109055588 109055588 single base substitution C T upstream_gene_variant MELA-AU 12 109055785 109055786 multiple base substitution (>=2bp and <=200bp) CC GT downstream_gene_variant MELA-AU 12 109055785 109055786 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 12 109055785 109055786 multiple base substitution (>=2bp and <=200bp) CC GT upstream_gene_variant MELA-AU 12 109055858 109055858 single base substitution C G downstream_gene_variant MELA-AU 12 109055858 109055858 single base substitution C G exon_variant MELA-AU 12 109055858 109055858 single base substitution C G intron_variant MELA-AU 12 109055858 109055858 single base substitution C G missense_variant R132T 395G>C MELA-AU 12 109055858 109055858 single base substitution C G missense_variant R138T 413G>C MELA-AU 12 109055858 109055858 single base substitution C G missense_variant R185T 554G>C MELA-AU 12 109055858 109055858 single base substitution C G missense_variant R27T 80G>C MELA-AU 12 109055858 109055858 single base substitution C G upstream_gene_variant MELA-AU 12 109057740 109057740 single base substitution G A intron_variant MELA-AU 12 109058965 109058965 single base substitution C A intron_variant MELA-AU 12 109059104 109059104 single base substitution G A intron_variant MELA-AU 12 109060124 109060124 single base substitution G A intron_variant MELA-AU 12 109061419 109061419 single base substitution G A intron_variant MELA-AU 12 109062660 109062660 single base substitution C T intron_variant MELA-AU 12 109063547 109063547 single base substitution G A intron_variant MELA-AU 12 109063555 109063555 single base substitution G A intron_variant MELA-AU 12 109064175 109064175 single base substitution C T intron_variant MELA-AU 12 109064572 109064572 single base substitution G A intron_variant MELA-AU 12 109064779 109064779 single base substitution A G intron_variant MELA-AU 12 109065909 109065909 single base substitution G A intron_variant MELA-AU 12 109065919 109065919 single base substitution A G intron_variant MELA-AU 12 109065920 109065920 single base substitution A G intron_variant MELA-AU 12 109065956 109065956 single base substitution G A intron_variant MELA-AU 12 109066021 109066021 single base substitution C T intron_variant MELA-AU 12 109067863 109067863 single base substitution A G intron_variant MELA-AU 12 109067887 109067887 single base substitution G A intron_variant MELA-AU 12 109068010 109068011 multiple base substitution (>=2bp and <=200bp) AG GA intron_variant MELA-AU 12 109068432 109068432 single base substitution G A intron_variant MELA-AU 12 109068681 109068682 deletion of <=200bp TA - intron_variant MELA-AU 12 109069707 109069707 single base substitution G A intron_variant MELA-AU 12 109070226 109070226 single base substitution A C intron_variant MELA-AU 12 109072476 109072476 single base substitution A T intron_variant MELA-AU 12 109073207 109073207 single base substitution A G intron_variant MELA-AU 12 109074563 109074563 single base substitution T A intron_variant MELA-AU 12 109074995 109074995 single base substitution G A intron_variant MELA-AU 12 109075157 109075157 single base substitution T G intron_variant MELA-AU 12 109075847 109075847 single base substitution C T intron_variant MELA-AU 12 109076676 109076676 single base substitution A T intron_variant MELA-AU 12 109077243 109077243 single base substitution A G intron_variant MELA-AU 12 109078157 109078157 single base substitution A G intron_variant MELA-AU 12 109079726 109079726 single base substitution T A intron_variant MELA-AU 12 109080893 109080893 single base substitution C T intron_variant MELA-AU 12 109080944 109080944 single base substitution A G intron_variant MELA-AU 12 109081157 109081157 single base substitution G A intron_variant MELA-AU 12 109085787 109085787 single base substitution A G intron_variant MELA-AU 12 109086913 109086913 single base substitution C T intron_variant MELA-AU 12 109087203 109087203 single base substitution G A intron_variant MELA-AU 12 109087427 109087427 single base substitution A G intron_variant MELA-AU 12 109087794 109087794 single base substitution G A intron_variant MELA-AU 12 109089087 109089087 single base substitution A G intron_variant MELA-AU 12 109090264 109090264 single base substitution G A downstream_gene_variant MELA-AU 12 109090264 109090264 single base substitution G A intron_variant MELA-AU 12 109090264 109090264 single base substitution G A upstream_gene_variant MELA-AU 12 109092207 109092207 single base substitution G A downstream_gene_variant MELA-AU 12 109092207 109092207 single base substitution G A intron_variant MELA-AU 12 109092207 109092207 single base substitution G A upstream_gene_variant MELA-AU 12 109093211 109093211 single base substitution T C downstream_gene_variant MELA-AU 12 109093211 109093211 single base substitution T C intron_variant MELA-AU 12 109093211 109093211 single base substitution T C upstream_gene_variant MELA-AU 12 109093601 109093601 single base substitution G A downstream_gene_variant MELA-AU 12 109093601 109093601 single base substitution G A intron_variant MELA-AU 12 109093601 109093601 single base substitution G A upstream_gene_variant MELA-AU 12 109093922 109093922 single base substitution G A downstream_gene_variant MELA-AU 12 109093922 109093922 single base substitution G A intron_variant MELA-AU 12 109093922 109093922 single base substitution G A upstream_gene_variant MELA-AU 12 109093931 109093931 single base substitution G A downstream_gene_variant MELA-AU 12 109093931 109093931 single base substitution G A intron_variant MELA-AU 12 109093931 109093931 single base substitution G A upstream_gene_variant MELA-AU 12 109094439 109094439 single base substitution G A downstream_gene_variant MELA-AU 12 109094439 109094439 single base substitution G A intron_variant MELA-AU 12 109094439 109094439 single base substitution G A upstream_gene_variant MELA-AU 12 109095584 109095584 single base substitution A T exon_variant MELA-AU 12 109095584 109095584 single base substitution A T intron_variant MELA-AU 12 109095584 109095584 single base substitution A T upstream_gene_variant MELA-AU 12 109095689 109095689 single base substitution C T exon_variant MELA-AU 12 109095689 109095689 single base substitution C T intron_variant MELA-AU 12 109095689 109095689 single base substitution C T upstream_gene_variant MELA-AU 12 109096080 109096080 single base substitution T C intron_variant MELA-AU 12 109096080 109096080 single base substitution T C upstream_gene_variant MELA-AU 12 109096133 109096133 single base substitution C T intron_variant MELA-AU 12 109096133 109096133 single base substitution C T upstream_gene_variant MELA-AU 12 109096878 109096878 single base substitution C A intron_variant MELA-AU 12 109096878 109096878 single base substitution C A upstream_gene_variant MELA-AU 12 109098152 109098152 single base substitution G A intron_variant MELA-AU 12 109098152 109098152 single base substitution G A upstream_gene_variant MELA-AU 12 109099870 109099870 single base substitution G A intron_variant MELA-AU 12 109099870 109099870 single base substitution G A upstream_gene_variant MELA-AU 12 109100696 109100696 single base substitution G A intron_variant MELA-AU 12 109100696 109100696 single base substitution G A upstream_gene_variant MELA-AU 12 109100830 109100830 single base substitution G A intron_variant MELA-AU 12 109100830 109100830 single base substitution G A upstream_gene_variant MELA-AU 12 109102547 109102547 single base substitution T A intron_variant MELA-AU 12 109103558 109103558 single base substitution G A intron_variant MELA-AU 12 109104036 109104036 single base substitution G A intron_variant MELA-AU 12 109106961 109106961 single base substitution A G intron_variant MELA-AU 12 109107040 109107040 single base substitution A C intron_variant MELA-AU 12 109108249 109108249 single base substitution G A intron_variant MELA-AU 12 109108518 109108518 single base substitution G A intron_variant MELA-AU 12 109108561 109108561 single base substitution G A intron_variant MELA-AU 12 109109328 109109328 single base substitution G A intron_variant MELA-AU 12 109109891 109109891 single base substitution G A intron_variant MELA-AU 12 109110593 109110593 single base substitution G A intron_variant MELA-AU 12 109111129 109111129 single base substitution G A intron_variant MELA-AU 12 109111240 109111240 single base substitution G A intron_variant MELA-AU 12 109111546 109111546 single base substitution G A intron_variant MELA-AU 12 109111717 109111718 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 12 109112458 109112458 single base substitution G A intron_variant MELA-AU 12 109112821 109112821 single base substitution G A intron_variant MELA-AU 12 109114802 109114802 single base substitution C A intron_variant MELA-AU 12 109115183 109115184 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 12 109115454 109115454 single base substitution G A intron_variant MELA-AU 12 109115690 109115690 single base substitution G A intron_variant MELA-AU 12 109116296 109116296 single base substitution C T intron_variant MELA-AU 12 109117435 109117435 single base substitution C T intron_variant MELA-AU 12 109118815 109118815 single base substitution G A intron_variant MELA-AU 12 109119517 109119517 single base substitution G T intron_variant MELA-AU 12 109119528 109119528 single base substitution C T intron_variant MELA-AU 12 109119860 109119860 single base substitution C T intron_variant MELA-AU 12 109120050 109120050 single base substitution C T intron_variant MELA-AU 12 109120089 109120089 single base substitution G A intron_variant MELA-AU 12 109121961 109121961 single base substitution G A intron_variant MELA-AU 12 109123866 109123866 single base substitution C G intron_variant MELA-AU 12 109125319 109125319 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 12 109125319 109125319 single base substitution G A upstream_gene_variant MELA-AU 12 109125395 109125395 single base substitution G A upstream_gene_variant MELA-AU 12 109125916 109125916 single base substitution G A upstream_gene_variant MELA-AU 12 109125921 109125921 single base substitution C T upstream_gene_variant MELA-AU 12 109126456 109126456 single base substitution G T upstream_gene_variant MELA-AU 12 109126745 109126745 single base substitution C T upstream_gene_variant MELA-AU 12 109126868 109126868 single base substitution C G upstream_gene_variant MELA-AU 12 109126955 109126955 single base substitution T G upstream_gene_variant MELA-AU 12 109127379 109127379 single base substitution C T upstream_gene_variant MELA-AU 12 109127648 109127648 single base substitution G A upstream_gene_variant MELA-AU 12 109128831 109128831 single base substitution G A upstream_gene_variant MELA-AU 12 109129204 109129204 single base substitution G A upstream_gene_variant MELA-AU 12 109129575 109129575 single base substitution C T upstream_gene_variant MELA-AU 12 109129745 109129745 single base substitution C T upstream_gene_variant MELA-AU 12 109130067 109130067 single base substitution G A upstream_gene_variant MELA-AU 12 109130071 109130071 single base substitution G A upstream_gene_variant MELA-AU 12 109130196 109130197 multiple base substitution (>=2bp and <=200bp) CT TC upstream_gene_variant ORCA-IN 12 109042576 109042576 single base substitution G A 3_prime_UTR_variant ORCA-IN 12 109042576 109042576 single base substitution G A downstream_gene_variant ORCA-IN 12 109042576 109042576 single base substitution G A exon_variant ORCA-IN 12 109042576 109042576 single base substitution G A synonymous_variant A265A 795C>T ORCA-IN 12 109042576 109042576 single base substitution G A synonymous_variant A370A 1110C>T ORCA-IN 12 109042576 109042576 single base substitution G A synonymous_variant A376A 1128C>T ORCA-IN 12 109042576 109042576 single base substitution G A synonymous_variant A423A 1269C>T ORCA-IN 12 109042576 109042576 single base substitution G A synonymous_variant A61A 183C>T ORCA-IN 12 109079111 109079111 single base substitution G A intron_variant ORCA-IN 12 109083420 109083420 single base substitution A G intron_variant ORCA-IN 12 109088002 109088002 single base substitution G A intron_variant ORCA-IN 12 109104615 109104615 single base substitution G T intron_variant ORCA-IN 12 109112237 109112237 single base substitution G A intron_variant ORCA-IN 12 109127016 109127016 single base substitution C T upstream_gene_variant ORCA-IN 12 109130229 109130229 single base substitution C T upstream_gene_variant OV-AU 12 109038281 109038281 single base substitution T C downstream_gene_variant OV-AU 12 109045126 109045126 single base substitution A G downstream_gene_variant OV-AU 12 109045126 109045126 single base substitution A G intron_variant OV-AU 12 109045126 109045126 single base substitution A G upstream_gene_variant OV-AU 12 109051815 109051815 single base substitution C T downstream_gene_variant OV-AU 12 109051815 109051815 single base substitution C T intron_variant OV-AU 12 109056160 109056160 single base substitution C G intron_variant OV-AU 12 109056160 109056160 single base substitution C G upstream_gene_variant OV-AU 12 109066451 109066451 single base substitution A C intron_variant OV-AU 12 109070563 109070563 single base substitution A T intron_variant OV-AU 12 109072012 109072012 single base substitution A G intron_variant OV-AU 12 109072660 109072660 single base substitution G C intron_variant OV-AU 12 109076009 109076009 single base substitution A T intron_variant OV-AU 12 109078299 109078299 single base substitution C G intron_variant OV-AU 12 109080481 109080481 single base substitution C G intron_variant OV-AU 12 109087359 109087359 single base substitution C T intron_variant OV-AU 12 109091404 109091404 single base substitution C A downstream_gene_variant OV-AU 12 109091404 109091404 single base substitution C A intron_variant OV-AU 12 109091404 109091404 single base substitution C A upstream_gene_variant OV-AU 12 109092481 109092481 single base substitution C A downstream_gene_variant OV-AU 12 109092481 109092481 single base substitution C A intron_variant OV-AU 12 109092481 109092481 single base substitution C A upstream_gene_variant OV-AU 12 109093361 109093361 single base substitution A T downstream_gene_variant OV-AU 12 109093361 109093361 single base substitution A T intron_variant OV-AU 12 109093361 109093361 single base substitution A T upstream_gene_variant OV-AU 12 109102888 109102888 single base substitution T A intron_variant OV-AU 12 109106748 109106748 single base substitution A C intron_variant OV-AU 12 109114681 109114681 single base substitution T A intron_variant OV-AU 12 109114710 109114710 single base substitution C G intron_variant OV-AU 12 109122408 109122408 single base substitution T G intron_variant OV-AU 12 109124885 109124885 single base substitution C T 5_prime_UTR_variant OV-AU 12 109124885 109124885 single base substitution C T intron_variant OV-AU 12 109124885 109124885 single base substitution C T upstream_gene_variant OV-AU 12 109129697 109129697 single base substitution C A upstream_gene_variant PACA-AU 12 109034187 109034187 single base substitution A T downstream_gene_variant PACA-AU 12 109041166 109041166 single base substitution G T 3_prime_UTR_variant PACA-AU 12 109041166 109041166 single base substitution G T downstream_gene_variant PACA-AU 12 109041166 109041166 single base substitution G T exon_variant PACA-AU 12 109041166 109041166 single base substitution G T intron_variant PACA-AU 12 109046948 109046948 single base substitution A G downstream_gene_variant PACA-AU 12 109046948 109046948 single base substitution A G intron_variant PACA-AU 12 109046948 109046948 single base substitution A G upstream_gene_variant PACA-AU 12 109049119 109049136 deletion of <=200bp CCCCTCCCTCTCCCCTTC - downstream_gene_variant PACA-AU 12 109049119 109049136 deletion of <=200bp CCCCTCCCTCTCCCCTTC - intron_variant PACA-AU 12 109049119 109049136 deletion of <=200bp CCCCTCCCTCTCCCCTTC - upstream_gene_variant PACA-AU 12 109049438 109049438 single base substitution G A downstream_gene_variant PACA-AU 12 109049438 109049438 single base substitution G A intron_variant PACA-AU 12 109049438 109049438 single base substitution G A upstream_gene_variant PACA-AU 12 109068957 109068957 insertion of <=200bp - TA intron_variant PACA-AU 12 109072334 109072334 single base substitution A G intron_variant PACA-AU 12 109072760 109072760 single base substitution G A intron_variant PACA-AU 12 109073617 109073617 single base substitution C T intron_variant PACA-AU 12 109074183 109074183 insertion of <=200bp - A intron_variant PACA-AU 12 109077221 109077221 single base substitution G T intron_variant PACA-AU 12 109090841 109090841 single base substitution G A downstream_gene_variant PACA-AU 12 109090841 109090841 single base substitution G A intron_variant PACA-AU 12 109090841 109090841 single base substitution G A upstream_gene_variant PACA-AU 12 109094163 109094163 single base substitution C A downstream_gene_variant PACA-AU 12 109094163 109094163 single base substitution C A intron_variant PACA-AU 12 109094163 109094163 single base substitution C A upstream_gene_variant PACA-AU 12 109095565 109095565 single base substitution G T exon_variant PACA-AU 12 109095565 109095565 single base substitution G T intron_variant PACA-AU 12 109095565 109095565 single base substitution G T upstream_gene_variant PACA-AU 12 109107448 109107448 single base substitution C T intron_variant PACA-AU 12 109109557 109109557 single base substitution G T intron_variant PACA-AU 12 109115170 109115170 single base substitution T G intron_variant PACA-AU 12 109118405 109118405 single base substitution A C intron_variant PACA-AU 12 109122504 109122507 deletion of <=200bp AGAG - intron_variant PACA-AU 12 109122747 109122747 single base substitution C A intron_variant PACA-AU 12 109122935 109122935 single base substitution T C intron_variant PACA-AU 12 109123933 109123933 single base substitution A T 5_prime_UTR_variant PACA-AU 12 109123933 109123933 single base substitution A T intron_variant PACA-CA 12 109036832 109036832 single base substitution A T downstream_gene_variant PACA-CA 12 109038004 109038004 single base substitution G A downstream_gene_variant PACA-CA 12 109047794 109047794 single base substitution T C downstream_gene_variant PACA-CA 12 109047794 109047794 single base substitution T C intron_variant PACA-CA 12 109047794 109047794 single base substitution T C upstream_gene_variant PACA-CA 12 109051935 109051935 single base substitution G A downstream_gene_variant PACA-CA 12 109051935 109051935 single base substitution G A intron_variant PACA-CA 12 109062322 109062322 single base substitution A C intron_variant PACA-CA 12 109064771 109064771 insertion of <=200bp - AAT intron_variant PACA-CA 12 109064947 109064947 insertion of <=200bp - A intron_variant PACA-CA 12 109065470 109065470 single base substitution C A intron_variant PACA-CA 12 109069246 109069246 single base substitution G A intron_variant PACA-CA 12 109071496 109071496 single base substitution T A intron_variant PACA-CA 12 109073459 109073459 single base substitution A T intron_variant PACA-CA 12 109079390 109079390 insertion of <=200bp - A intron_variant PACA-CA 12 109082890 109082890 single base substitution C G intron_variant PACA-CA 12 109085287 109085287 single base substitution T C intron_variant PACA-CA 12 109087329 109087329 single base substitution G C intron_variant PACA-CA 12 109092268 109092268 single base substitution C T downstream_gene_variant PACA-CA 12 109092268 109092268 single base substitution C T intron_variant PACA-CA 12 109092268 109092268 single base substitution C T upstream_gene_variant PACA-CA 12 109092274 109092274 single base substitution C A downstream_gene_variant PACA-CA 12 109092274 109092274 single base substitution C A intron_variant PACA-CA 12 109092274 109092274 single base substitution C A upstream_gene_variant PACA-CA 12 109100953 109100953 single base substitution A C intron_variant PACA-CA 12 109100953 109100953 single base substitution A C upstream_gene_variant PACA-CA 12 109101314 109101314 single base substitution G T intron_variant PACA-CA 12 109101314 109101314 single base substitution G T upstream_gene_variant PACA-CA 12 109104350 109104350 single base substitution C T intron_variant PACA-CA 12 109104464 109104464 single base substitution C T intron_variant PACA-CA 12 109105950 109105950 single base substitution C T intron_variant PACA-CA 12 109107438 109107438 single base substitution C T intron_variant PACA-CA 12 109110533 109110533 deletion of <=200bp C - intron_variant PACA-CA 12 109116117 109116117 single base substitution T C intron_variant PACA-CA 12 109116992 109116992 single base substitution A T intron_variant PACA-CA 12 109120215 109120215 single base substitution A G intron_variant PACA-CA 12 109127935 109127935 single base substitution T C upstream_gene_variant PAEN-AU 12 109046146 109046146 single base substitution G A 3_prime_UTR_variant PAEN-AU 12 109046146 109046146 single base substitution G A downstream_gene_variant PAEN-AU 12 109046146 109046146 single base substitution G A exon_variant PAEN-AU 12 109046146 109046146 single base substitution G A intron_variant PAEN-AU 12 109046146 109046146 single base substitution G A synonymous_variant Y196Y 588C>T PAEN-AU 12 109046146 109046146 single base substitution G A synonymous_variant Y301Y 903C>T PAEN-AU 12 109046146 109046146 single base substitution G A synonymous_variant Y307Y 921C>T PAEN-AU 12 109046146 109046146 single base substitution G A synonymous_variant Y354Y 1062C>T PAEN-AU 12 109046146 109046146 single base substitution G A upstream_gene_variant PAEN-AU 12 109050127 109050127 single base substitution A C downstream_gene_variant PAEN-AU 12 109050127 109050127 single base substitution A C intron_variant PAEN-AU 12 109050127 109050127 single base substitution A C upstream_gene_variant PAEN-AU 12 109092418 109092418 single base substitution G A downstream_gene_variant PAEN-AU 12 109092418 109092418 single base substitution G A intron_variant PAEN-AU 12 109092418 109092418 single base substitution G A upstream_gene_variant PAEN-AU 12 109108495 109108495 single base substitution C T intron_variant PAEN-AU 12 109120329 109120329 single base substitution T C intron_variant PAEN-IT 12 109037421 109037421 single base substitution T A downstream_gene_variant PAEN-IT 12 109087856 109087856 single base substitution G A intron_variant PAEN-IT 12 109091770 109091770 single base substitution C A downstream_gene_variant PAEN-IT 12 109091770 109091770 single base substitution C A intron_variant PAEN-IT 12 109091770 109091770 single base substitution C A upstream_gene_variant PBCA-DE 12 109036359 109036359 single base substitution A C downstream_gene_variant PBCA-DE 12 109046630 109046630 insertion of <=200bp - GAG downstream_gene_variant PBCA-DE 12 109046630 109046630 insertion of <=200bp - GAG intron_variant PBCA-DE 12 109046630 109046630 insertion of <=200bp - GAG upstream_gene_variant PBCA-DE 12 109052795 109052796 deletion of <=200bp AG - downstream_gene_variant PBCA-DE 12 109052795 109052796 deletion of <=200bp AG - intron_variant PBCA-DE 12 109052795 109052796 deletion of <=200bp AG - upstream_gene_variant PBCA-DE 12 109059028 109059028 single base substitution G A intron_variant PBCA-DE 12 109077243 109077243 single base substitution A G intron_variant PBCA-DE 12 109099340 109099340 insertion of <=200bp - AAGT intron_variant PBCA-DE 12 109099340 109099340 insertion of <=200bp - AAGT upstream_gene_variant PBCA-DE 12 109099973 109099973 insertion of <=200bp - A intron_variant PBCA-DE 12 109099973 109099973 insertion of <=200bp - A upstream_gene_variant PBCA-DE 12 109104171 109104171 insertion of <=200bp - A intron_variant PBCA-DE 12 109109444 109109444 insertion of <=200bp - GCAGAACCATATAAAATCGCCTGA intron_variant PBCA-DE 12 109119785 109119785 insertion of <=200bp - TG intron_variant PBCA-DE 12 109126458 109126458 insertion of <=200bp - T upstream_gene_variant PBCA-DE 12 109127831 109127831 deletion of <=200bp T - upstream_gene_variant PBCA-DE 12 109130067 109130068 deletion of <=200bp GA - upstream_gene_variant PRAD-CA 12 109050117 109050117 single base substitution G C downstream_gene_variant PRAD-CA 12 109050117 109050117 single base substitution G C intron_variant PRAD-CA 12 109050117 109050117 single base substitution G C upstream_gene_variant PRAD-CA 12 109070894 109070894 single base substitution C G intron_variant PRAD-CA 12 109070959 109070959 single base substitution C T intron_variant PRAD-CA 12 109071969 109071969 single base substitution C A intron_variant PRAD-CA 12 109086049 109086049 single base substitution C T intron_variant PRAD-CA 12 109095115 109095115 single base substitution G A 5_prime_UTR_variant PRAD-CA 12 109095115 109095115 single base substitution G A intron_variant PRAD-CA 12 109095115 109095115 single base substitution G A upstream_gene_variant PRAD-CA 12 109098226 109098226 single base substitution C T intron_variant PRAD-CA 12 109098226 109098226 single base substitution C T upstream_gene_variant PRAD-CA 12 109102799 109102799 single base substitution T C intron_variant PRAD-CA 12 109107626 109107626 single base substitution G T intron_variant PRAD-CA 12 109111241 109111241 single base substitution G A intron_variant PRAD-CA 12 109114444 109114444 single base substitution C T intron_variant PRAD-CA 12 109125174 109125174 single base substitution A T intron_variant PRAD-CA 12 109125174 109125174 single base substitution A T upstream_gene_variant PRAD-CA 12 109127596 109127596 single base substitution C A upstream_gene_variant PRAD-UK 12 109050086 109050086 single base substitution C G downstream_gene_variant PRAD-UK 12 109050086 109050086 single base substitution C G intron_variant PRAD-UK 12 109050086 109050086 single base substitution C G upstream_gene_variant PRAD-UK 12 109070611 109070611 single base substitution G A intron_variant PRAD-UK 12 109083467 109083467 single base substitution C T intron_variant PRAD-UK 12 109089851 109089852 deletion of <=200bp GG - downstream_gene_variant PRAD-UK 12 109089851 109089852 deletion of <=200bp GG - intron_variant PRAD-UK 12 109108034 109108034 single base substitution G A intron_variant PRAD-UK 12 109111329 109111339 deletion of <=200bp AGTAGAAACAG - intron_variant READ-US 12 109046145 109046145 single base substitution C T 3_prime_UTR_variant READ-US 12 109046145 109046145 single base substitution C T downstream_gene_variant READ-US 12 109046145 109046145 single base substitution C T exon_variant READ-US 12 109046145 109046145 single base substitution C T intron_variant READ-US 12 109046145 109046145 single base substitution C T missense_variant V197I 589G>A READ-US 12 109046145 109046145 single base substitution C T missense_variant V302I 904G>A READ-US 12 109046145 109046145 single base substitution C T missense_variant V308I 922G>A READ-US 12 109046145 109046145 single base substitution C T missense_variant V355I 1063G>A READ-US 12 109046145 109046145 single base substitution C T upstream_gene_variant RECA-EU 12 109061483 109061483 single base substitution A C intron_variant RECA-EU 12 109076072 109076072 single base substitution C A intron_variant RECA-EU 12 109082387 109082387 single base substitution A T intron_variant RECA-EU 12 109084599 109084599 single base substitution A T intron_variant RECA-EU 12 109084601 109084601 single base substitution A G intron_variant RECA-EU 12 109095767 109095767 single base substitution T C intron_variant RECA-EU 12 109095767 109095767 single base substitution T C upstream_gene_variant RECA-EU 12 109097283 109097283 single base substitution C A intron_variant RECA-EU 12 109097283 109097283 single base substitution C A upstream_gene_variant RECA-EU 12 109100809 109100809 single base substitution A C intron_variant RECA-EU 12 109100809 109100809 single base substitution A C upstream_gene_variant RECA-EU 12 109103102 109103102 single base substitution T A intron_variant RECA-EU 12 109119361 109119361 single base substitution C T intron_variant RECA-EU 12 109122136 109122136 single base substitution A G intron_variant RECA-EU 12 109127399 109127399 single base substitution T A upstream_gene_variant SKCA-BR 12 109034364 109034364 single base substitution G C downstream_gene_variant SKCA-BR 12 109039006 109039007 deletion of <=200bp TA - 3_prime_UTR_variant SKCA-BR 12 109039006 109039007 deletion of <=200bp TA - downstream_gene_variant SKCA-BR 12 109042270 109042270 single base substitution A G downstream_gene_variant SKCA-BR 12 109042270 109042270 single base substitution A G intron_variant SKCA-BR 12 109043956 109043956 insertion of <=200bp - CT downstream_gene_variant SKCA-BR 12 109043956 109043956 insertion of <=200bp - CT intron_variant SKCA-BR 12 109043956 109043956 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 12 109046827 109046827 single base substitution G A downstream_gene_variant SKCA-BR 12 109046827 109046827 single base substitution G A exon_variant SKCA-BR 12 109046827 109046827 single base substitution G A intron_variant SKCA-BR 12 109046827 109046827 single base substitution G A upstream_gene_variant SKCA-BR 12 109050117 109050117 single base substitution G C downstream_gene_variant SKCA-BR 12 109050117 109050117 single base substitution G C intron_variant SKCA-BR 12 109050117 109050117 single base substitution G C upstream_gene_variant SKCA-BR 12 109050118 109050118 single base substitution T G downstream_gene_variant SKCA-BR 12 109050118 109050118 single base substitution T G intron_variant SKCA-BR 12 109050118 109050118 single base substitution T G upstream_gene_variant SKCA-BR 12 109050127 109050127 single base substitution A G downstream_gene_variant SKCA-BR 12 109050127 109050127 single base substitution A G intron_variant SKCA-BR 12 109050127 109050127 single base substitution A G upstream_gene_variant SKCA-BR 12 109050138 109050138 single base substitution C A downstream_gene_variant SKCA-BR 12 109050138 109050138 single base substitution C A intron_variant SKCA-BR 12 109050138 109050138 single base substitution C A upstream_gene_variant SKCA-BR 12 109050144 109050144 single base substitution G A downstream_gene_variant SKCA-BR 12 109050144 109050144 single base substitution G A intron_variant SKCA-BR 12 109050144 109050144 single base substitution G A upstream_gene_variant SKCA-BR 12 109055372 109055372 single base substitution G A downstream_gene_variant SKCA-BR 12 109055372 109055372 single base substitution G A intron_variant SKCA-BR 12 109055372 109055372 single base substitution G A upstream_gene_variant SKCA-BR 12 109057269 109057269 single base substitution T A intron_variant SKCA-BR 12 109057269 109057269 single base substitution T A upstream_gene_variant SKCA-BR 12 109067054 109067054 single base substitution A C intron_variant SKCA-BR 12 109068154 109068154 single base substitution C T intron_variant SKCA-BR 12 109068311 109068311 single base substitution G A intron_variant SKCA-BR 12 109068328 109068329 deletion of <=200bp TA - intron_variant SKCA-BR 12 109068748 109068748 single base substitution T G intron_variant SKCA-BR 12 109070547 109070547 insertion of <=200bp - CA intron_variant SKCA-BR 12 109071481 109071484 deletion of <=200bp AGAG - intron_variant SKCA-BR 12 109071486 109071486 single base substitution A T intron_variant SKCA-BR 12 109072920 109072920 single base substitution G A intron_variant SKCA-BR 12 109077029 109077029 single base substitution G A intron_variant SKCA-BR 12 109077210 109077210 single base substitution G A intron_variant SKCA-BR 12 109077526 109077526 insertion of <=200bp - CCAAT intron_variant SKCA-BR 12 109081735 109081735 single base substitution A C intron_variant SKCA-BR 12 109083543 109083543 single base substitution G A intron_variant SKCA-BR 12 109083544 109083544 single base substitution G A intron_variant SKCA-BR 12 109091860 109091860 single base substitution A C downstream_gene_variant SKCA-BR 12 109091860 109091860 single base substitution A C intron_variant SKCA-BR 12 109091860 109091860 single base substitution A C upstream_gene_variant SKCA-BR 12 109093622 109093622 single base substitution T A downstream_gene_variant SKCA-BR 12 109093622 109093622 single base substitution T A intron_variant SKCA-BR 12 109093622 109093622 single base substitution T A upstream_gene_variant SKCA-BR 12 109099402 109099402 single base substitution G A intron_variant SKCA-BR 12 109099402 109099402 single base substitution G A upstream_gene_variant SKCA-BR 12 109099774 109099774 single base substitution A G intron_variant SKCA-BR 12 109099774 109099774 single base substitution A G upstream_gene_variant SKCA-BR 12 109105039 109105039 single base substitution G A intron_variant SKCA-BR 12 109109443 109109443 insertion of <=200bp - TGCAGAACCATATAAAATCGCCTGA intron_variant SKCA-BR 12 109109446 109109446 single base substitution C A intron_variant SKCA-BR 12 109109891 109109891 single base substitution G A intron_variant SKCA-BR 12 109109893 109109893 single base substitution G A intron_variant SKCA-BR 12 109116370 109116370 single base substitution G A intron_variant SKCA-BR 12 109117687 109117687 single base substitution G A intron_variant SKCA-BR 12 109118016 109118016 single base substitution G A intron_variant SKCA-BR 12 109118022 109118022 single base substitution G A intron_variant SKCA-BR 12 109118048 109118048 single base substitution G A intron_variant SKCA-BR 12 109119575 109119575 single base substitution G A intron_variant SKCA-BR 12 109119833 109119833 single base substitution A C intron_variant SKCA-BR 12 109125311 109125311 single base substitution A G 5_prime_UTR_variant SKCA-BR 12 109125311 109125311 single base substitution A G upstream_gene_variant SKCA-BR 12 109125921 109125921 single base substitution C T upstream_gene_variant SKCA-BR 12 109127517 109127517 single base substitution A C upstream_gene_variant SKCA-BR 12 109128710 109128710 single base substitution G A upstream_gene_variant SKCM-US 12 109041221 109041221 single base substitution A G 3_prime_UTR_variant SKCM-US 12 109041221 109041221 single base substitution A G downstream_gene_variant SKCM-US 12 109041221 109041221 single base substitution A G exon_variant SKCM-US 12 109041221 109041221 single base substitution A G synonymous_variant R152R 456T>C SKCM-US 12 109041221 109041221 single base substitution A G synonymous_variant R356R 1068T>C SKCM-US 12 109041221 109041221 single base substitution A G synonymous_variant R461R 1383T>C SKCM-US 12 109041221 109041221 single base substitution A G synonymous_variant R467R 1401T>C SKCM-US 12 109041221 109041221 single base substitution A G synonymous_variant R514R 1542T>C SKCM-US 12 109042520 109042520 single base substitution G A 3_prime_UTR_variant SKCM-US 12 109042520 109042520 single base substitution G A downstream_gene_variant SKCM-US 12 109042520 109042520 single base substitution G A exon_variant SKCM-US 12 109042520 109042520 single base substitution G A missense_variant S284F 851C>T SKCM-US 12 109042520 109042520 single base substitution G A missense_variant S389F 1166C>T SKCM-US 12 109042520 109042520 single base substitution G A missense_variant S395F 1184C>T SKCM-US 12 109042520 109042520 single base substitution G A missense_variant S442F 1325C>T SKCM-US 12 109042520 109042520 single base substitution G A missense_variant S80F 239C>T SKCM-US 12 109042615 109042615 single base substitution G A 3_prime_UTR_variant SKCM-US 12 109042615 109042615 single base substitution G A downstream_gene_variant SKCM-US 12 109042615 109042615 single base substitution G A exon_variant SKCM-US 12 109042615 109042615 single base substitution G A synonymous_variant F252F 756C>T SKCM-US 12 109042615 109042615 single base substitution G A synonymous_variant F357F 1071C>T SKCM-US 12 109042615 109042615 single base substitution G A synonymous_variant F363F 1089C>T SKCM-US 12 109042615 109042615 single base substitution G A synonymous_variant F410F 1230C>T SKCM-US 12 109042615 109042615 single base substitution G A synonymous_variant F48F 144C>T SKCM-US 12 109046152 109046152 single base substitution G A 3_prime_UTR_variant SKCM-US 12 109046152 109046152 single base substitution G A downstream_gene_variant SKCM-US 12 109046152 109046152 single base substitution G A exon_variant SKCM-US 12 109046152 109046152 single base substitution G A intron_variant SKCM-US 12 109046152 109046152 single base substitution G A synonymous_variant S194S 582C>T SKCM-US 12 109046152 109046152 single base substitution G A synonymous_variant S299S 897C>T SKCM-US 12 109046152 109046152 single base substitution G A synonymous_variant S305S 915C>T SKCM-US 12 109046152 109046152 single base substitution G A synonymous_variant S352S 1056C>T SKCM-US 12 109046152 109046152 single base substitution G A upstream_gene_variant SKCM-US 12 109046160 109046160 single base substitution C T 3_prime_UTR_variant SKCM-US 12 109046160 109046160 single base substitution C T downstream_gene_variant SKCM-US 12 109046160 109046160 single base substitution C T exon_variant SKCM-US 12 109046160 109046160 single base substitution C T intron_variant SKCM-US 12 109046160 109046160 single base substitution C T missense_variant D192N 574G>A SKCM-US 12 109046160 109046160 single base substitution C T missense_variant D297N 889G>A SKCM-US 12 109046160 109046160 single base substitution C T missense_variant D303N 907G>A SKCM-US 12 109046160 109046160 single base substitution C T missense_variant D350N 1048G>A SKCM-US 12 109046160 109046160 single base substitution C T upstream_gene_variant SKCM-US 12 109046188 109046188 single base substitution G A 3_prime_UTR_variant SKCM-US 12 109046188 109046188 single base substitution G A downstream_gene_variant SKCM-US 12 109046188 109046188 single base substitution G A exon_variant SKCM-US 12 109046188 109046188 single base substitution G A intron_variant SKCM-US 12 109046188 109046188 single base substitution G A synonymous_variant D182D 546C>T SKCM-US 12 109046188 109046188 single base substitution G A synonymous_variant D287D 861C>T SKCM-US 12 109046188 109046188 single base substitution G A synonymous_variant D293D 879C>T SKCM-US 12 109046188 109046188 single base substitution G A synonymous_variant D340D 1020C>T SKCM-US 12 109046188 109046188 single base substitution G A upstream_gene_variant SKCM-US 12 109051152 109051152 single base substitution G A downstream_gene_variant SKCM-US 12 109051152 109051152 single base substitution G A exon_variant SKCM-US 12 109051152 109051152 single base substitution G A intron_variant SKCM-US 12 109051152 109051152 single base substitution G A synonymous_variant F121F 363C>T SKCM-US 12 109051152 109051152 single base substitution G A synonymous_variant F226F 678C>T SKCM-US 12 109051152 109051152 single base substitution G A synonymous_variant F232F 696C>T SKCM-US 12 109051152 109051152 single base substitution G A synonymous_variant F279F 837C>T SKCM-US 12 109052620 109052620 single base substitution T A downstream_gene_variant SKCM-US 12 109052620 109052620 single base substitution T A intron_variant SKCM-US 12 109052620 109052620 single base substitution T A missense_variant D175V 524A>T SKCM-US 12 109052620 109052620 single base substitution T A missense_variant D181V 542A>T SKCM-US 12 109052620 109052620 single base substitution T A missense_variant D228V 683A>T SKCM-US 12 109052620 109052620 single base substitution T A missense_variant D70V 209A>T SKCM-US 12 109052620 109052620 single base substitution T A upstream_gene_variant SKCM-US 12 109055900 109055900 single base substitution G A exon_variant SKCM-US 12 109055900 109055900 single base substitution G A intron_variant SKCM-US 12 109055900 109055900 single base substitution G A missense_variant S118F 353C>T SKCM-US 12 109055900 109055900 single base substitution G A missense_variant S124F 371C>T SKCM-US 12 109055900 109055900 single base substitution G A missense_variant S13F 38C>T SKCM-US 12 109055900 109055900 single base substitution G A missense_variant S171F 512C>T SKCM-US 12 109055900 109055900 single base substitution G A upstream_gene_variant STAD-US 12 109041214 109041214 single base substitution T C 3_prime_UTR_variant STAD-US 12 109041214 109041214 single base substitution T C downstream_gene_variant STAD-US 12 109041214 109041214 single base substitution T C exon_variant STAD-US 12 109041214 109041214 single base substitution T C missense_variant K155E 463A>G STAD-US 12 109041214 109041214 single base substitution T C missense_variant K359E 1075A>G STAD-US 12 109041214 109041214 single base substitution T C missense_variant K464E 1390A>G STAD-US 12 109041214 109041214 single base substitution T C missense_variant K470E 1408A>G STAD-US 12 109041214 109041214 single base substitution T C missense_variant K517E 1549A>G STAD-US 12 109042423 109042423 single base substitution G A 3_prime_UTR_variant STAD-US 12 109042423 109042423 single base substitution G A downstream_gene_variant STAD-US 12 109042423 109042423 single base substitution G A exon_variant STAD-US 12 109042423 109042423 single base substitution G A synonymous_variant D112D 336C>T STAD-US 12 109042423 109042423 single base substitution G A synonymous_variant D316D 948C>T STAD-US 12 109042423 109042423 single base substitution G A synonymous_variant D421D 1263C>T STAD-US 12 109042423 109042423 single base substitution G A synonymous_variant D427D 1281C>T STAD-US 12 109042423 109042423 single base substitution G A synonymous_variant D474D 1422C>T STAD-US 12 109046095 109046095 single base substitution A G 3_prime_UTR_variant STAD-US 12 109046095 109046095 single base substitution A G exon_variant STAD-US 12 109046095 109046095 single base substitution A G intron_variant STAD-US 12 109046095 109046095 single base substitution A G synonymous_variant G213G 639T>C STAD-US 12 109046095 109046095 single base substitution A G synonymous_variant G318G 954T>C STAD-US 12 109046095 109046095 single base substitution A G synonymous_variant G324G 972T>C STAD-US 12 109046095 109046095 single base substitution A G synonymous_variant G371G 1113T>C STAD-US 12 109046095 109046095 single base substitution A G synonymous_variant G9G 27T>C STAD-US 12 109046095 109046095 single base substitution A G upstream_gene_variant STAD-US 12 109095026 109095026 single base substitution G A exon_variant STAD-US 12 109095026 109095026 single base substitution G A intron_variant STAD-US 12 109095026 109095026 single base substitution G A synonymous_variant C23C 69C>T STAD-US 12 109095026 109095026 single base substitution G A synonymous_variant C29C 87C>T STAD-US 12 109095026 109095026 single base substitution G A synonymous_variant C76C 228C>T STAD-US 12 109095026 109095026 single base substitution G A upstream_gene_variant THCA-SA 12 109039794 109039794 single base substitution A C 3_prime_UTR_variant THCA-SA 12 109039794 109039794 single base substitution A C downstream_gene_variant THCA-SA 12 109039869 109039869 single base substitution T C 3_prime_UTR_variant THCA-SA 12 109039869 109039869 single base substitution T C downstream_gene_variant UCEC-US 12 109042548 109042548 single base substitution C A 3_prime_UTR_variant UCEC-US 12 109042548 109042548 single base substitution C A downstream_gene_variant UCEC-US 12 109042548 109042548 single base substitution C A exon_variant UCEC-US 12 109042548 109042548 single base substitution C A missense_variant G275C 823G>T UCEC-US 12 109042548 109042548 single base substitution C A missense_variant G380C 1138G>T UCEC-US 12 109042548 109042548 single base substitution C A missense_variant G386C 1156G>T UCEC-US 12 109042548 109042548 single base substitution C A missense_variant G433C 1297G>T UCEC-US 12 109042548 109042548 single base substitution C A missense_variant G71C 211G>T UCEC-US 12 109042552 109042552 single base substitution G A 3_prime_UTR_variant UCEC-US 12 109042552 109042552 single base substitution G A downstream_gene_variant UCEC-US 12 109042552 109042552 single base substitution G A exon_variant UCEC-US 12 109042552 109042552 single base substitution G A synonymous_variant F273F 819C>T UCEC-US 12 109042552 109042552 single base substitution G A synonymous_variant F378F 1134C>T UCEC-US 12 109042552 109042552 single base substitution G A synonymous_variant F384F 1152C>T UCEC-US 12 109042552 109042552 single base substitution G A synonymous_variant F431F 1293C>T UCEC-US 12 109042552 109042552 single base substitution G A synonymous_variant F69F 207C>T UCEC-US 12 109046047 109046047 single base substitution C T exon_variant UCEC-US 12 109046047 109046047 single base substitution C T intron_variant UCEC-US 12 109046047 109046047 single base substitution C T splice_donor_variant UCEC-US 12 109046047 109046047 single base substitution C T upstream_gene_variant UCEC-US 12 109046051 109046051 single base substitution G A 3_prime_UTR_variant UCEC-US 12 109046051 109046051 single base substitution G A exon_variant UCEC-US 12 109046051 109046051 single base substitution G A intron_variant UCEC-US 12 109046051 109046051 single base substitution G A missense_variant A228V 683C>T UCEC-US 12 109046051 109046051 single base substitution G A missense_variant A24V 71C>T UCEC-US 12 109046051 109046051 single base substitution G A missense_variant A333V 998C>T UCEC-US 12 109046051 109046051 single base substitution G A missense_variant A339V 1016C>T UCEC-US 12 109046051 109046051 single base substitution G A missense_variant A386V 1157C>T UCEC-US 12 109046051 109046051 single base substitution G A upstream_gene_variant UCEC-US 12 109046161 109046161 single base substitution C T 3_prime_UTR_variant UCEC-US 12 109046161 109046161 single base substitution C T downstream_gene_variant UCEC-US 12 109046161 109046161 single base substitution C T exon_variant UCEC-US 12 109046161 109046161 single base substitution C T intron_variant UCEC-US 12 109046161 109046161 single base substitution C T synonymous_variant T191T 573G>A UCEC-US 12 109046161 109046161 single base substitution C T synonymous_variant T296T 888G>A UCEC-US 12 109046161 109046161 single base substitution C T synonymous_variant T302T 906G>A UCEC-US 12 109046161 109046161 single base substitution C T synonymous_variant T349T 1047G>A UCEC-US 12 109046161 109046161 single base substitution C T upstream_gene_variant UCEC-US 12 109055854 109055854 single base substitution G A downstream_gene_variant UCEC-US 12 109055854 109055854 single base substitution G A exon_variant UCEC-US 12 109055854 109055854 single base substitution G A intron_variant UCEC-US 12 109055854 109055854 single base substitution G A synonymous_variant V133V 399C>T UCEC-US 12 109055854 109055854 single base substitution G A synonymous_variant V139V 417C>T UCEC-US 12 109055854 109055854 single base substitution G A synonymous_variant V186V 558C>T UCEC-US 12 109055854 109055854 single base substitution G A synonymous_variant V28V 84C>T UCEC-US 12 109055854 109055854 single base substitution G A upstream_gene_variant UCEC-US 12 109055882 109055882 single base substitution A G downstream_gene_variant UCEC-US 12 109055882 109055882 single base substitution A G exon_variant UCEC-US 12 109055882 109055882 single base substitution A G intron_variant UCEC-US 12 109055882 109055882 single base substitution A G missense_variant V124A 371T>C UCEC-US 12 109055882 109055882 single base substitution A G missense_variant V130A 389T>C UCEC-US 12 109055882 109055882 single base substitution A G missense_variant V177A 530T>C UCEC-US 12 109055882 109055882 single base substitution A G missense_variant V19A 56T>C UCEC-US 12 109055882 109055882 single base substitution A G upstream_gene_variant UCEC-US 12 109072092 109072092 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 12 109072092 109072092 single base substitution T C exon_variant UCEC-US 12 109072092 109072092 single base substitution T C intron_variant UCEC-US 12 109072092 109072092 single base substitution T C missense_variant N145D 433A>G UCEC-US 12 109072092 109072092 single base substitution T C missense_variant N92D 274A>G UCEC-US 12 109072092 109072092 single base substitution T C missense_variant N98D 292A>G UCEC-US 12 109072154 109072154 single base substitution T G 5_prime_UTR_variant UCEC-US 12 109072154 109072154 single base substitution T G exon_variant UCEC-US 12 109072154 109072154 single base substitution T G intron_variant UCEC-US 12 109072154 109072154 single base substitution T G missense_variant K124T 371A>C UCEC-US 12 109072154 109072154 single base substitution T G missense_variant K71T 212A>C UCEC-US 12 109072154 109072154 single base substitution T G missense_variant K77T 230A>C UCEC-US 12 109072163 109072163 single base substitution C T 5_prime_UTR_variant UCEC-US 12 109072163 109072163 single base substitution C T exon_variant UCEC-US 12 109072163 109072163 single base substitution C T intron_variant UCEC-US 12 109072163 109072163 single base substitution C T missense_variant R121Q 362G>A UCEC-US 12 109072163 109072163 single base substitution C T missense_variant R68Q 203G>A UCEC-US 12 109072163 109072163 single base substitution C T missense_variant R74Q 221G>A UCEC-US 12 109095038 109095038 single base substitution T G exon_variant UCEC-US 12 109095038 109095038 single base substitution T G intron_variant UCEC-US 12 109095038 109095038 single base substitution T G missense_variant K19N 57A>C UCEC-US 12 109095038 109095038 single base substitution T G missense_variant K25N 75A>C UCEC-US 12 109095038 109095038 single base substitution T G missense_variant K72N 216A>C UCEC-US 12 109095038 109095038 single base substitution T G upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SJRHB011_E COSM3737492 c.1264C>A p.L422M Substitution - Missense 12:108648646-108648646 - NCHP_DIPG102 COSM4746059 c.991G>C p.E331Q Substitution - Missense 12:108652282-108652282 - TCGA-BT-A42C-01 COSM4390394 c.31C>T p.R11W Substitution - Missense 12:108701288-108701288 - TCGA-AC-A23H-01 COSM3810901 c.345C>T p.L115L Substitution - coding silent 12:108662132-108662132 - TCGA-A7-A0CE-01 COSM430273 c.644C>T p.A215V Substitution - Missense 12:108657410-108657410 - TCGA-CA-6717-01 COSM1358537 c.1331T>G p.I444S Substitution - Missense 12:108647497-108647497 - LP6005409-DNA_A01 COSM5952081 c.715C>T p.R239C Substitution - Missense 12:108657339-108657339 - YUMUL COSM5374072 c.170C>A p.A57E Substitution - Missense 12:108701149-108701149 - TCGA-46-3765-01 COSM691380 c.1018G>T p.E340* Substitution - Nonsense 12:108649004-108649004 - TCGA-AC-A23H-01 COSM3810899 c.1372C>G p.Q458E Substitution - Missense 12:108647456-108647456 - TCGA-D1-A103-01 COSM934622 c.888G>A p.T296T Substitution - coding silent 12:108652385-108652385 - TCGA-DA-A3F3-06 COSM3455685 c.1383T>C p.R461R Substitution - coding silent 12:108647445-108647445 - TCGA-BS-A0UF-01 COSM934627 c.203G>A p.R68Q Substitution - Missense 12:108678387-108678387 - TCGA-AX-A05Z-01 COSM934619 c.1134C>T p.F378F Substitution - coding silent 12:108648776-108648776 - TCGA-60-2724-01 COSM691377 c.37G>T p.V13L Substitution - Missense 12:108701282-108701282 - 8051712 COSM3772238 c.903C>T p.Y301Y Substitution - coding silent 12:108652370-108652370 - TCGA-BT-A2LB-01 COSM3792150 c.472T>G p.W158G Substitution - Missense 12:108658896-108658896 - SJRHB011_D COSM3737492 c.1264C>A p.L422M Substitution - Missense 12:108648646-108648646 - NCHP_DIPG102 COSM4746060 c.859G>C p.D287H Substitution - Missense 12:108652414-108652414 - TCGA-EB-A5UL-06 COSM3455688 c.897C>T p.S299S Substitution - coding silent 12:108652376-108652376 - TCGA-A8-A06Q-01 COSM430274 c.215C>G p.S72C Substitution - Missense 12:108678375-108678375 - TCGA-EB-A431-01 COSM3870664 c.353C>T p.S118F Substitution - Missense 12:108662124-108662124 - TCGA-66-2791-01 COSM691378 c.551G>A p.R184Q Substitution - Missense 12:108658817-108658817 - DN14065 COSM5962782 c.1282A>T p.K428* Substitution - Nonsense 12:108648628-108648628 - CHC892T COSM4959075 c.153G>A p.E51E Substitution - coding silent 12:108701166-108701166 - PT36 COSM5916198 c.683C>T p.A228V Substitution - Missense 12:108657371-108657371 - T2932 COSM4674231 c.1261G>A p.D421N Substitution - Missense 12:108648649-108648649 - TCGA-AG-3731-01 COSM1561859 c.904G>A p.V302I Substitution - Missense 12:108652369-108652369 - TCGA-EE-A2A6-06 COSM3455692 c.524A>T p.D175V Substitution - Missense 12:108658844-108658844 - Gp2D COSM1945876 c.11T>C p.V4A Substitution - Missense 12:108701308-108701308 - 053T COSM1729911 c.1420G>T p.A474S Substitution - Missense 12:108647408-108647408 - BRC7 COSM5027686 c.89C>G p.S30C Substitution - Missense 12:108701230-108701230 - OSCC-GB_00050111 COSM3710542 c.1110C>T p.A370A Substitution - coding silent 12:108648800-108648800 - TCGA-BR-4368-01 COSM4038419 c.1390A>G p.K464E Substitution - Missense 12:108647438-108647438 - TCGA-EE-A3JI-06 COSM3455686 c.1166C>T p.S389F Substitution - Missense 12:108648744-108648744 - LN18 COSM1945858 c.1208A>G p.K403R Substitution - Missense 12:108648702-108648702 - H1672 COSM310289 c.473G>T p.W158L Substitution - Missense 12:108658895-108658895 - TCGA-B5-A11E-01 COSM934624 c.371T>C p.V124A Substitution - Missense 12:108662106-108662106 - TCGA-EE-A29L-06 COSM3455691 c.678C>T p.F226F Substitution - coding silent 12:108657376-108657376 - 8665_PT COSM5753851 c.211A>G p.K71E Substitution - Missense 12:108678379-108678379 - MZ7-mel COSM25175 c.1324G>A p.D442N Substitution - Missense 12:108647504-108647504 - 1517_PT COSM934627 c.203G>A p.R68Q Substitution - Missense 12:108678387-108678387 - TCGA-27-2524-01 COSM3398308 c.558C>G p.G186G Substitution - coding silent 12:108658810-108658810 - 587338 COSM1202096 c.1112C>T p.A371V Substitution - Missense 12:108648798-108648798 - 157-01-1TD COSM145260 c.1295C>G p.T432R Substitution - Missense 12:108648615-108648615 - 12T COSM107761 c.195G>A p.K65K Substitution - coding silent 12:108701124-108701124 - 3N48-VS-3T48 COSM4982693 c.511G>A p.D171N Substitution - Missense 12:108658857-108658857 - C086 COSM5529105 c.898C>T p.P300S Substitution - Missense 12:108652375-108652375 - TCGA-AP-A056-01 COSM934628 c.57A>C p.K19N Substitution - Missense 12:108701262-108701262 - TCGA-D1-A169-01 COSM934620 c.1001+1G>A p.? Unknown 12:108652271-108652271 - PD4847a COSM5778103 c.843C>G p.Y281* Substitution - Nonsense 12:108654318-108654318 - CHC892T COSM4959075 c.153G>A p.E51E Substitution - coding silent 12:108701166-108701166 - 1517_CLM COSM934627 c.203G>A p.R68Q Substitution - Missense 12:108678387-108678387 - TCGA-BS-A0UV-01 COSM934626 c.212A>C p.K71T Substitution - Missense 12:108678378-108678378 - LUAD-S00484 COSM342797 c.1148C>T p.A383V Substitution - Missense 12:108648762-108648762 - TCGA-DD-A3A3-01 COSM4912557 c.86T>C p.V29A Substitution - Missense 12:108701233-108701233 - C467 COSM4441943 c.448G>A p.G150S Substitution - Missense 12:108662029-108662029 - TCGA-A8-A0A6-01 COSM3810900 c.803T>G p.V268G Substitution - Missense 12:108654358-108654358 - 5T COSM3710542 c.1110C>T p.A370A Substitution - coding silent 12:108648800-108648800 - RMS231 COSM5881255 c.233G>A p.G78D Substitution - Missense 12:108678357-108678357 - TCGA-E7-A3X6-01 COSM3792151 c.8G>C p.R3P Substitution - Missense 12:108701311-108701311 - TCGA-FS-A1Z3-06 COSM3455689 c.889G>A p.D297N Substitution - Missense 12:108652384-108652384 - J54_T COSM3954140 c.286A>G p.I96V Substitution - Missense 12:108678304-108678304 - LUAD-NYU1219 COSM369880 c.739C>T p.L247F Substitution - Missense 12:108657315-108657315 - SC_9008 COSM5574131 c.1306-10_1306-9insT p.? Unknown 12:108647531-108647532 - PD3989a COSM160165 c.1190G>A p.G397D Substitution - Missense 12:108648720-108648720 - TCGA-BS-A0UJ-01 COSM934625 c.274A>G p.N92D Substitution - Missense 12:108678316-108678316 - TCGA-EK-A2RJ-01 COSM4831725 c.631G>A p.E211K Substitution - Missense 12:108657423-108657423 - SJRHB011 COSM3737492 c.1264C>A p.L422M Substitution - Missense 12:108648646-108648646 - TCGA-DD-A3A4-01 COSM4929026 c.322T>C p.W108R Substitution - Missense 12:108662155-108662155 - TCGA-B5-A11E-01 COSM934621 c.998C>T p.A333V Substitution - Missense 12:108652275-108652275 - TCGA-BR-4362-01 COSM4038420 c.1263C>T p.D421D Substitution - coding silent 12:108648647-108648647 - TCGA-39-5027-01 COSM691379 c.727C>T p.R243W Substitution - Missense 12:108657327-108657327 - I2L-P19Ta-Tumor-Organoid COSM5361463 c.1074A>G p.Q358Q Substitution - coding silent 12:108648836-108648836 - RK261_C02 COSM4943877 c.673A>G p.I225V Substitution - Missense 12:108657381-108657381 - TCGA-AP-A0LM-01 COSM934623 c.399C>T p.V133V Substitution - coding silent 12:108662078-108662078 - I2L-P19Ta-Tumor-Biopsy COSM5361463 c.1074A>G p.Q358Q Substitution - coding silent 12:108648836-108648836 - B80 COSM1746719 c.123C>T p.V41V Substitution - coding silent 12:108701196-108701196 - 157 COSM145260 c.1295C>G p.T432R Substitution - Missense 12:108648615-108648615 - 6T COSM3734597 c.454G>T p.D152Y Substitution - Missense 12:108658914-108658914 - TCGA-A3-3316-01 COSM1492749 c.34C>T p.H12Y Substitution - Missense 12:108701285-108701285 - S0080 COSM5882176 c.721A>C p.S241R Substitution - Missense 12:108657333-108657333 - TCGA-G4-6320-01 COSM3687933 c.1382G>A p.R461H Substitution - Missense 12:108647446-108647446 - TCGA-D5-6540-01 COSM934627 c.203G>A p.R68Q Substitution - Missense 12:108678387-108678387 - TCGA-AP-A051-01 COSM934618 c.1138G>T p.G380C Substitution - Missense 12:108648772-108648772 - S00830 COSM317175 c.1123G>A p.E375K Substitution - Missense 12:108648787-108648787 - YUAKER COSM1706232 c.329T>A p.I110N Substitution - Missense 12:108662148-108662148 - TCGA-CD-A4MG-01 COSM4038422 c.69C>T p.C23C Substitution - coding silent 12:108701250-108701250 - 8051712 COSM3772238 c.903C>T p.Y301Y Substitution - coding silent 12:108652370-108652370 - TCGA-D9-A1JW-06 COSM3455690 c.861C>T p.D287D Substitution - coding silent 12:108652412-108652412 - CSCC-44-T COSM3870664 c.353C>T p.S118F Substitution - Missense 12:108662124-108662124 - MZ7-mel COSM27253 c.1153C>T p.P385S Substitution - Missense 12:108648757-108648757 - PD3989a COSM160165 c.1190G>A p.G397D Substitution - Missense 12:108648720-108648720 - Gp5D COSM1945876 c.11T>C p.V4A Substitution - Missense 12:108701308-108701308 - Au10 COSM5598179 c.285C>T p.V95V Substitution - coding silent 12:108678305-108678305 - ME032T COSM227339 c.926G>A p.S309N Substitution - Missense 12:108652347-108652347 - TCGA-CK-5913-01 COSM1358540 c.149T>C p.I50T Substitution - Missense 12:108701170-108701170 - ESO-143 COSM1248985 c.369G>A p.V123V Substitution - coding silent 12:108662108-108662108 - S00830 COSM317175 c.1123G>A p.E375K Substitution - Missense 12:108648787-108648787 - 157 COSM145260 c.1295C>G p.T432R Substitution - Missense 12:108648615-108648615 - 2334192 COSM310289 c.473G>T p.W158L Substitution - Missense 12:108658895-108658895 - TCGA-EE-A2ML-06 COSM3455687 c.1071C>T p.F357F Substitution - coding silent 12:108648839-108648839 - TCGA-BR-6452-01 COSM4038421 c.954T>C p.G318G Substitution - coding silent 12:108652319-108652319 - B80-Tumor COSM1746719 c.123C>T p.V41V Substitution - coding silent 12:108701196-108701196 - TCGA-AO-A0J9-01 COSM430272 c.1164C>G p.I388M Substitution - Missense 12:108648746-108648746 - TCGA-D1-A17Q-01 COSM934623 c.399C>T p.V133V Substitution - coding silent 12:108662078-108662078 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.330384 12q24.1 605269

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.W158G c.472T>G 12 109052672 BLCA A G Synonymous p.F14F c.42T>C 12 109095053 LUAD A G Synonymous p.R461R c.1383T>C 12 109041221 CM C A Missense p.V13L c.37G>T 12 109095058 LUSC C A Missense p.V405F c.1213G>T 12 109042473 LUAD C A Missense p.W158L c.473G>T 12 109052671 SCLC C A Nonsense p.E340* c.1018G>T 12 109042780 LUSC C T Missense p.D229N c.685G>A 12 109051145 HNSC C T Missense p.D229N c.685G>A 12 109051145 LUAD C T Missense p.D297N c.889G>A 12 109046160 CM C T Missense p.E375K c.1123G>A 12 109042563 SCLC C T Missense p.G397D c.1190G>A 12 109042496 BRCA C T Missense p.R184Q c.551G>A 12 109052593 LUSC C T SpliceDonorSNV . c.1001+1G>A 12 109046047 UCEC C T Synonymous p.V123V c.369G>A 12 109055884 ESCA G A Missense p.A215V c.644C>T 12 109051186 BRCA G A Missense p.R243W c.727C>T 12 109051103 LUSC G A Missense p.S389F c.1166C>T 12 109042520 CM G A Synonymous p.D287D c.861C>T 12 109046188 CM G A Synonymous p.F226F c.678C>T 12 109051152 CM G A Synonymous p.F357F c.1071C>T 12 109042615 CM G A Synonymous p.L422L c.1264C>T 12 109042422 HNSC G A Synonymous p.T277T c.831C>T 12 109048106 CM G C Missense p.I388M c.1164C>G 12 109042522 BRCA G C Missense p.S241R c.723C>G 12 109051107 HNSC G C Missense p.S30C c.89C>G 12 109095006 BRCA G C Missense p.S72C c.215C>G 12 109072151 BRCA G C Synonymous p.G186G c.558C>G 12 109052586 GBM GG TT Missense p.P275N c.823_824delinsAA 12 109048113 CM T A Missense p.D175V c.524A>T 12 109052620 CM T C IntronicSNV . c.196-2502A>G 12 109074672 PIA T C Missense p.K464E c.1390A>G 12 109041214 STAD T C Synonymous p.V107V c.321A>G 12 109055932 LUAD TTCCAGATGATAATGGCAT - Frameshift p.N153Mfs*9 c.458_476delATGCCATTATCATCTGGAA 12 109052668 LUAD