Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 7 140154322 140154322 + Missense_Mutation SNP G G T TCGA-FD-A43X-01A-11D-A23U-08 TCGA-FD-A43X-10A-01D-A23U-08 g.chr7:140154322G>T c.1444C>A c.(1444-1446)Cta>Ata p.L482I BLCA 7 140156619 140156619 + Silent SNP C C T TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr7:140156619C>T c.819G>A c.(817-819)gtG>gtA p.V273V BLCA 7 140158900 140158900 + Silent SNP C C T TCGA-GC-A3I6-01A-11D-A20D-08 TCGA-GC-A3I6-10A-01D-A20D-08 g.chr7:140158900C>T c.678G>A c.(676-678)gaG>gaA p.E226E BLCA 7 140159649 140159649 + Silent SNP G G C TCGA-GV-A3QH-01A-11D-A21Z-08 TCGA-GV-A3QH-10A-01D-A21Z-08 g.chr7:140159649G>C c.402C>G c.(400-402)ctC>ctG p.L134L BRCA 7 140154430 140154430 + Missense_Mutation SNP C C T TCGA-C8-A12P-01A-11D-A10Y-09 TCGA-C8-A12P-10A-01D-A110-09 g.chr7:140154430C>T c.1336G>A c.(1336-1338)Gag>Aag p.E446K BRCA 7 140154472 140154472 + Missense_Mutation SNP A A T TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 g.chr7:140154472A>T c.1294T>A c.(1294-1296)Ttt>Att p.F432I COAD 7 140154430 140154430 + Missense_Mutation SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr7:140154430C>T c.1336G>A c.(1336-1338)Gag>Aag p.E446K COAD 7 140154431 140154431 + Silent SNP G G A TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr7:140154431G>A c.1335C>T c.(1333-1335)ggC>ggT p.G445G COAD 7 140154928 140154928 + Silent SNP C C T TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr7:140154928C>T c.1203G>A c.(1201-1203)caG>caA p.Q401Q COAD 7 140158888 140158888 + Nonsense_Mutation SNP A A T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr7:140158888A>T c.690T>A c.(688-690)taT>taA p.Y230* COAD 7 140159573 140159573 + Nonsense_Mutation SNP C C A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr7:140159573C>A c.478G>T c.(478-480)Gga>Tga p.G160* COAD 7 140179072 140179072 + Missense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr7:140179072C>T c.73G>A c.(73-75)Gca>Aca p.A25T COADREAD 7 140154430 140154430 + Missense_Mutation SNP C C T TCGA-AA-3811-01A-01W-0995-10 TCGA-AA-3811-10A-01W-0995-10 g.chr7:140154430C>T c.1336G>A c.(1336-1338)Gag>Aag p.E446K COADREAD 7 140154431 140154431 + Silent SNP G G A TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr7:140154431G>A c.1335C>T c.(1333-1335)ggC>ggT p.G445G COADREAD 7 140154928 140154928 + Silent SNP C C T TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr7:140154928C>T c.1203G>A c.(1201-1203)caG>caA p.Q401Q COADREAD 7 140154929 140154929 + Missense_Mutation SNP T T C TCGA-EI-6508-01A-11D-1733-10 TCGA-EI-6508-10A-01D-1733-10 g.chr7:140154929T>C c.1202A>G c.(1201-1203)cAg>cGg p.Q401R COADREAD 7 140158888 140158888 + Nonsense_Mutation SNP A A T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr7:140158888A>T c.690T>A c.(688-690)taT>taA p.Y230* COADREAD 7 140159573 140159573 + Nonsense_Mutation SNP C C A TCGA-AA-3947-01A-01W-0995-10 TCGA-AA-3947-10A-01W-0995-10 g.chr7:140159573C>A c.478G>T c.(478-480)Gga>Tga p.G160* COADREAD 7 140179072 140179072 + Missense_Mutation SNP C C T TCGA-AD-6895-01A-11D-1924-10 TCGA-AD-6895-10A-01D-1924-10 g.chr7:140179072C>T c.73G>A c.(73-75)Gca>Aca p.A25T DLBC 7 140158960 140158960 + Silent SNP G G A TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr7:140158960G>A c.618C>T c.(616-618)gcC>gcT p.A206A ESCA 7 140158882 140158882 + Silent SNP G G A TCGA-V5-A7RE-01A-11D-A351-09 TCGA-V5-A7RE-10A-01D-A351-09 g.chr7:140158882G>A c.696C>T c.(694-696)caC>caT p.H232H GBM 7 140154505 140154505 + Nonsense_Mutation SNP C C A TCGA-41-3393-01A-01D-1353-08 TCGA-41-3393-10A-01D-1353-08 g.chr7:140154505C>A c.1261G>T c.(1261-1263)Gaa>Taa p.E421* GBMLGG 7 140154464 140154464 + Silent SNP G G A TCGA-QH-A6XC-01A-12D-A32B-08 TCGA-QH-A6XC-10B-01D-A329-08 g.chr7:140154464G>A c.1302C>T c.(1300-1302)aaC>aaT p.N434N GBMLGG 7 140154505 140154505 + Nonsense_Mutation SNP C C A TCGA-41-3393-01A-01D-1353-08 TCGA-41-3393-10A-01D-1353-08 g.chr7:140154505C>A c.1261G>T c.(1261-1263)Gaa>Taa p.E421* GBMLGG 7 140154921 140154922 + Frame_Shift_Del DEL TC TC - TCGA-FG-8188-01A-11D-2253-08 TCGA-FG-8188-10A-01D-2253-08 g.chr7:140154921_140154922delTC c.1209_1210delGA c.(1207-1212)cagaaafs p.K404fs GBMLGG 7 140154990 140154990 + Missense_Mutation SNP G G A TCGA-DU-6393-01A-11D-1705-08 TCGA-DU-6393-10A-01D-1705-08 g.chr7:140154990G>A c.1141C>T c.(1141-1143)Cca>Tca p.P381S GBMLGG 7 140159722 140159722 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:140159722T>C c.329A>G c.(328-330)aAa>aGa p.K110R HNSC 7 140154936 140154936 + Missense_Mutation SNP C C G TCGA-CX-7085-01A-21D-2012-08 TCGA-CX-7085-10A-01D-2013-08 g.chr7:140154936C>G c.1195G>C c.(1195-1197)Gag>Cag p.E399Q HNSC 7 140154946 140154946 + Silent SNP G G A TCGA-QK-AA3J-01A-11D-A391-08 TCGA-QK-AA3J-10A-01D-A394-08 g.chr7:140154946G>A c.1185C>T c.(1183-1185)ggC>ggT p.G395G HNSC 7 140158912 140158912 + Silent SNP G G A TCGA-MZ-A7D7-01A-21D-A34J-08 TCGA-MZ-A7D7-10A-01D-A34M-08 g.chr7:140158912G>A c.666C>T c.(664-666)tgC>tgT p.C222C HNSC 7 140159671 140159671 + Missense_Mutation SNP G G C TCGA-DQ-5631-01A-01D-1870-08 TCGA-DQ-5631-10A-01D-1870-08 g.chr7:140159671G>C c.380C>G c.(379-381)tCc>tGc p.S127C HNSC 7 140171758 140171758 + Missense_Mutation SNP T T C TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr7:140171758T>C c.239A>G c.(238-240)gAc>gGc p.D80G KIPAN 7 140155662 140155662 + Missense_Mutation SNP A A G TCGA-A3-3387-01A-01D-1534-10 TCGA-A3-3387-11A-01D-1534-10 g.chr7:140155662A>G c.1025T>C c.(1024-1026)aTt>aCt p.I342T KIRC 7 140155662 140155662 + Missense_Mutation SNP A A G TCGA-A3-3387-01A-01D-1534-10 TCGA-A3-3387-11A-01D-1534-10 g.chr7:140155662A>G c.1025T>C c.(1024-1026)aTt>aCt p.I342T LGG 7 140154464 140154464 + Silent SNP G G A TCGA-QH-A6XC-01A-12D-A32B-08 TCGA-QH-A6XC-10B-01D-A329-08 g.chr7:140154464G>A c.1302C>T c.(1300-1302)aaC>aaT p.N434N LGG 7 140154921 140154922 + Frame_Shift_Del DEL TC TC - TCGA-FG-8188-01A-11D-2253-08 TCGA-FG-8188-10A-01D-2253-08 g.chr7:140154921_140154922delTC c.1209_1210delGA c.(1207-1212)cagaaafs p.K404fs LGG 7 140154990 140154990 + Missense_Mutation SNP G G A TCGA-DU-6393-01A-11D-1705-08 TCGA-DU-6393-10A-01D-1705-08 g.chr7:140154990G>A c.1141C>T c.(1141-1143)Cca>Tca p.P381S LGG 7 140159722 140159722 + Missense_Mutation SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr7:140159722T>C c.329A>G c.(328-330)aAa>aGa p.K110R LIHC 7 140156621 140156621 + Missense_Mutation SNP C C A TCGA-DD-A113-01A-11D-A12Z-10 TCGA-DD-A113-10A-01D-A12Z-10 g.chr7:140156621C>A c.817G>T c.(817-819)Gtg>Ttg p.V273L LIHC 7 140171777 140171777 + Missense_Mutation SNP T T A TCGA-DD-AAC8-01A-11D-A40R-10 TCGA-DD-AAC8-10A-01D-A40U-10 g.chr7:140171777T>A c.220A>T c.(220-222)Aac>Tac p.N74Y LUAD 7 140154416 140154416 + Missense_Mutation SNP C C T TCGA-71-6725-01A-11D-1855-08 TCGA-71-6725-10A-01D-1855-08 g.chr7:140154416C>T c.1350G>A c.(1348-1350)atG>atA p.M450I LUAD 7 140154936 140154936 + Missense_Mutation SNP C C G TCGA-05-4432-01A-01D-1265-08 TCGA-05-4432-10A-01D-1265-08 g.chr7:140154936C>G c.1195G>C c.(1195-1197)Gag>Cag p.E399Q LUAD 7 140156559 140156559 + Silent SNP G G A TCGA-62-A46U-01A-11D-A24D-08 TCGA-62-A46U-10A-01D-A24F-08 g.chr7:140156559G>A c.879C>T c.(877-879)aaC>aaT p.N293N LUAD 7 140158963 140158963 + Silent SNP G G A TCGA-55-8506-01A-11D-2393-08 TCGA-55-8506-10A-01D-2393-08 g.chr7:140158963G>A c.615C>T c.(613-615)acC>acT p.T205T LUAD 7 140159034 140159034 + Splice_Site SNP C C A TCGA-55-A48X-01A-11D-A24D-08 TCGA-55-A48X-10A-01D-A24F-08 g.chr7:140159034C>A c.e4-1 LUAD 7 140159540 140159540 + Missense_Mutation SNP C C G TCGA-91-8499-01A-11D-2393-08 TCGA-91-8499-10A-01D-2393-08 g.chr7:140159540C>G c.511G>C c.(511-513)Gag>Cag p.E171Q LUAD 7 140159583 140159583 + Silent SNP A A G TCGA-53-A4EZ-01A-12D-A24P-08 TCGA-53-A4EZ-10A-01D-A24P-08 g.chr7:140159583A>G c.468T>C c.(466-468)ttT>ttC p.F156F LUSC 7 140154376 140154376 + Missense_Mutation SNP C C T TCGA-66-2778-01A-02D-1522-08 TCGA-66-2778-11A-01D-1522-08 g.chr7:140154376C>T c.1390G>A c.(1390-1392)Gaa>Aaa p.E464K LUSC 7 140155025 140155025 + Missense_Mutation SNP G G A TCGA-22-1002-01A-01D-1521-08 TCGA-22-1002-11A-01D-1521-08 g.chr7:140155025G>A c.1106C>T c.(1105-1107)gCg>gTg p.A369V LUSC 7 140156495 140156495 + Missense_Mutation SNP G G A TCGA-66-2792-01A-01D-0983-08 TCGA-66-2792-11A-01D-0983-08 g.chr7:140156495G>A c.943C>T c.(943-945)Cgc>Tgc p.R315C LUSC 7 140159596 140159596 + Missense_Mutation SNP C C T TCGA-66-2759-01A-01D-1522-08 TCGA-66-2759-11A-01D-1522-08 g.chr7:140159596C>T c.455G>A c.(454-456)aGa>aAa p.R152K OV 7 140154928 140154928 + Missense_Mutation SNP C C G TCGA-23-1124-01A-01W-0488-09 TCGA-23-1124-10A-01W-0488-09 g.chr7:140154928C>G c.1203G>C c.(1201-1203)caG>caC p.Q401H PAAD 7 140156610 140156610 + Silent SNP G G A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr7:140156610G>A c.828C>T c.(826-828)agC>agT p.S276S PRAD 7 140158862 140158862 + Missense_Mutation SNP C C T TCGA-XK-AAJA-01A-11D-A41K-08 TCGA-XK-AAJA-10A-01D-A41N-08 g.chr7:140158862C>T c.716G>A c.(715-717)tGt>tAt p.C239Y PRAD 7 140158897 140158897 + Frame_Shift_Del DEL G G - TCGA-EJ-5521-01A-01D-1576-08 TCGA-EJ-5521-10A-01D-1577-08 g.chr7:140158897delG c.681delC c.(679-681)aacfs p.N227fs PRAD 7 140158931 140158931 + Missense_Mutation SNP T T C TCGA-XJ-A9DK-01A-11D-A377-08 TCGA-XJ-A9DK-10A-01D-A37A-08 g.chr7:140158931T>C c.647A>G c.(646-648)tAt>tGt p.Y216C PRAD 7 140159705 140159705 + Missense_Mutation SNP C C G TCGA-XJ-A9DX-01A-11D-A377-08 TCGA-XJ-A9DX-10A-01D-A37A-08 g.chr7:140159705C>G c.346G>C c.(346-348)Gaa>Caa p.E116Q READ 7 140154929 140154929 + Missense_Mutation SNP T T C TCGA-EI-6508-01A-11D-1733-10 TCGA-EI-6508-10A-01D-1733-10 g.chr7:140154929T>C c.1202A>G c.(1201-1203)cAg>cGg p.Q401R SKCM 7 140156541 140156541 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr7:140156541G>A c.897C>T c.(895-897)ttC>ttT p.F299F SKCM 7 140156574 140156574 + Silent SNP G G A TCGA-EE-A3AA-06A-11D-A196-08 TCGA-EE-A3AA-10A-01D-A198-08 g.chr7:140156574G>A c.864C>T c.(862-864)gtC>gtT p.V288V SKCM 7 140156594 140156594 + Missense_Mutation SNP C C T TCGA-ER-A19B-06A-11D-A196-08 TCGA-ER-A19B-10A-01D-A198-08 g.chr7:140156594C>T c.844G>A c.(844-846)Ggg>Agg p.G282R

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 7 140158900 140158900 single base substitution C T 3_prime_UTR_variant BLCA-US 7 140158900 140158900 single base substitution C T downstream_gene_variant BLCA-US 7 140158900 140158900 single base substitution C T exon_variant BLCA-US 7 140158900 140158900 single base substitution C T intron_variant BLCA-US 7 140158900 140158900 single base substitution C T synonymous_variant E162E 486G>A BLCA-US 7 140158900 140158900 single base substitution C T synonymous_variant E226E 678G>A BLCA-US 7 140158900 140158900 single base substitution C T upstream_gene_variant BLCA-US 7 140159649 140159649 single base substitution G C 3_prime_UTR_variant BLCA-US 7 140159649 140159649 single base substitution G C downstream_gene_variant BLCA-US 7 140159649 140159649 single base substitution G C exon_variant BLCA-US 7 140159649 140159649 single base substitution G C intron_variant BLCA-US 7 140159649 140159649 single base substitution G C synonymous_variant L134L 402C>G BLCA-US 7 140159649 140159649 single base substitution G C synonymous_variant L70L 210C>G BLCA-US 7 140159649 140159649 single base substitution G C synonymous_variant L85L 255C>G BLCA-US 7 140159649 140159649 single base substitution G C upstream_gene_variant BRCA-EU 7 140147973 140147973 single base substitution G A downstream_gene_variant BRCA-EU 7 140148800 140148800 single base substitution C A downstream_gene_variant BRCA-EU 7 140149320 140149320 single base substitution C T downstream_gene_variant BRCA-EU 7 140151956 140151956 single base substitution G A downstream_gene_variant BRCA-EU 7 140153200 140153200 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 140153200 140153200 single base substitution G A downstream_gene_variant BRCA-EU 7 140153200 140153200 single base substitution G A exon_variant BRCA-EU 7 140154308 140154308 single base substitution G A 3_prime_UTR_variant BRCA-EU 7 140154308 140154308 single base substitution G A downstream_gene_variant BRCA-EU 7 140154308 140154308 single base substitution G A exon_variant BRCA-EU 7 140158386 140158386 single base substitution G A downstream_gene_variant BRCA-EU 7 140158386 140158386 single base substitution G A intron_variant BRCA-EU 7 140158386 140158386 single base substitution G A upstream_gene_variant BRCA-EU 7 140158770 140158770 single base substitution C T downstream_gene_variant BRCA-EU 7 140158770 140158770 single base substitution C T intron_variant BRCA-EU 7 140158770 140158770 single base substitution C T upstream_gene_variant BRCA-EU 7 140161445 140161445 deletion of <=200bp A - intron_variant BRCA-EU 7 140161445 140161445 deletion of <=200bp A - upstream_gene_variant BRCA-EU 7 140162181 140162181 single base substitution C T intron_variant BRCA-EU 7 140162706 140162706 single base substitution C T intron_variant BRCA-EU 7 140164000 140164000 single base substitution G A intron_variant BRCA-EU 7 140165338 140165338 single base substitution G C intron_variant BRCA-EU 7 140165476 140165476 single base substitution C G intron_variant BRCA-EU 7 140165553 140165553 single base substitution G C intron_variant BRCA-EU 7 140165880 140165880 insertion of <=200bp - A intron_variant BRCA-EU 7 140165905 140165905 single base substitution G C intron_variant BRCA-EU 7 140168754 140168754 single base substitution C T intron_variant BRCA-EU 7 140169632 140169632 single base substitution G A intron_variant BRCA-EU 7 140169792 140169792 single base substitution G A intron_variant BRCA-EU 7 140170745 140170745 single base substitution C G intron_variant BRCA-EU 7 140170918 140170918 single base substitution C G intron_variant BRCA-EU 7 140171279 140171279 deletion of <=200bp T - intron_variant BRCA-EU 7 140172626 140172626 deletion of <=200bp A - intron_variant BRCA-EU 7 140172738 140172738 single base substitution A G intron_variant BRCA-EU 7 140174238 140174238 insertion of <=200bp - G 5_prime_UTR_variant BRCA-EU 7 140174238 140174238 insertion of <=200bp - G exon_variant BRCA-EU 7 140174238 140174238 insertion of <=200bp - G intron_variant BRCA-EU 7 140174847 140174847 single base substitution T A intron_variant BRCA-EU 7 140175535 140175535 single base substitution T A intron_variant BRCA-EU 7 140177319 140177319 single base substitution T G intron_variant BRCA-EU 7 140179930 140179930 single base substitution C T upstream_gene_variant BRCA-EU 7 140181431 140181431 single base substitution C T upstream_gene_variant BRCA-EU 7 140182432 140182432 single base substitution G T upstream_gene_variant BRCA-EU 7 140182857 140182857 single base substitution G C upstream_gene_variant BRCA-EU 7 140183385 140183385 single base substitution C A upstream_gene_variant BRCA-FR 7 140149320 140149320 single base substitution C T downstream_gene_variant BRCA-FR 7 140181431 140181431 single base substitution C T upstream_gene_variant BRCA-FR 7 140181882 140181882 single base substitution G A upstream_gene_variant BRCA-UK 7 140172738 140172738 single base substitution A G intron_variant BRCA-UK 7 140180641 140180641 single base substitution G A upstream_gene_variant BRCA-UK 7 140183385 140183385 single base substitution C A upstream_gene_variant BRCA-US 7 140154430 140154430 single base substitution C T 3_prime_UTR_variant BRCA-US 7 140154430 140154430 single base substitution C T downstream_gene_variant BRCA-US 7 140154430 140154430 single base substitution C T exon_variant BRCA-US 7 140154430 140154430 single base substitution C T missense_variant E180K 538G>A BRCA-US 7 140154430 140154430 single base substitution C T missense_variant E382K 1144G>A BRCA-US 7 140154430 140154430 single base substitution C T missense_variant E446K 1336G>A BRCA-US 7 140154430 140154430 single base substitution C T synonymous_variant A98A 294G>A BRCA-US 7 140154472 140154472 single base substitution A T 3_prime_UTR_variant BRCA-US 7 140154472 140154472 single base substitution A T downstream_gene_variant BRCA-US 7 140154472 140154472 single base substitution A T exon_variant BRCA-US 7 140154472 140154472 single base substitution A T missense_variant F166I 496T>A BRCA-US 7 140154472 140154472 single base substitution A T missense_variant F368I 1102T>A BRCA-US 7 140154472 140154472 single base substitution A T missense_variant F432I 1294T>A BRCA-US 7 140154472 140154472 single base substitution A T synonymous_variant P84P 252T>A BTCA-JP 7 140154520 140154520 single base substitution T C 3_prime_UTR_variant BTCA-JP 7 140154520 140154520 single base substitution T C downstream_gene_variant BTCA-JP 7 140154520 140154520 single base substitution T C exon_variant BTCA-JP 7 140154520 140154520 single base substitution T C missense_variant R150G 448A>G BTCA-JP 7 140154520 140154520 single base substitution T C missense_variant R352G 1054A>G BTCA-JP 7 140154520 140154520 single base substitution T C missense_variant R416G 1246A>G BTCA-JP 7 140154520 140154520 single base substitution T C synonymous_variant E68E 204A>G BTCA-JP 7 140154958 140154958 single base substitution C T 3_prime_UTR_variant BTCA-JP 7 140154958 140154958 single base substitution C T downstream_gene_variant BTCA-JP 7 140154958 140154958 single base substitution C T exon_variant BTCA-JP 7 140154958 140154958 single base substitution C T missense_variant R44H 131G>A BTCA-JP 7 140154958 140154958 single base substitution C T synonymous_variant A125A 375G>A BTCA-JP 7 140154958 140154958 single base substitution C T synonymous_variant A327A 981G>A BTCA-JP 7 140154958 140154958 single base substitution C T synonymous_variant A391A 1173G>A CLLE-ES 7 140149562 140149562 single base substitution T G downstream_gene_variant CLLE-ES 7 140156902 140156902 single base substitution A C downstream_gene_variant CLLE-ES 7 140156902 140156902 single base substitution A C intron_variant CLLE-ES 7 140156902 140156902 single base substitution A C upstream_gene_variant CLLE-ES 7 140170736 140170736 single base substitution T C intron_variant CLLE-ES 7 140176640 140176640 single base substitution G A intron_variant CLLE-ES 7 140181735 140181735 single base substitution T C upstream_gene_variant COAD-US 7 140154431 140154431 single base substitution G A 3_prime_UTR_variant COAD-US 7 140154431 140154431 single base substitution G A downstream_gene_variant COAD-US 7 140154431 140154431 single base substitution G A exon_variant COAD-US 7 140154431 140154431 single base substitution G A missense_variant A98V 293C>T COAD-US 7 140154431 140154431 single base substitution G A synonymous_variant G179G 537C>T COAD-US 7 140154431 140154431 single base substitution G A synonymous_variant G381G 1143C>T COAD-US 7 140154431 140154431 single base substitution G A synonymous_variant G445G 1335C>T COAD-US 7 140179072 140179072 single base substitution C T 5_prime_UTR_variant COAD-US 7 140179072 140179072 single base substitution C T exon_variant COAD-US 7 140179072 140179072 single base substitution C T missense_variant A25T 73G>A COAD-US 7 140179072 140179072 single base substitution C T upstream_gene_variant COCA-CN 7 140149755 140149755 single base substitution A G downstream_gene_variant COCA-CN 7 140154592 140154592 single base substitution T C downstream_gene_variant COCA-CN 7 140154592 140154592 single base substitution T C intron_variant COCA-CN 7 140155210 140155210 single base substitution C T downstream_gene_variant COCA-CN 7 140155210 140155210 single base substitution C T exon_variant COCA-CN 7 140155210 140155210 single base substitution C T intron_variant COCA-CN 7 140159721 140159721 single base substitution T C 3_prime_UTR_variant COCA-CN 7 140159721 140159721 single base substitution T C downstream_gene_variant COCA-CN 7 140159721 140159721 single base substitution T C exon_variant COCA-CN 7 140159721 140159721 single base substitution T C intron_variant COCA-CN 7 140159721 140159721 single base substitution T C synonymous_variant K110K 330A>G COCA-CN 7 140159721 140159721 single base substitution T C synonymous_variant K46K 138A>G COCA-CN 7 140159721 140159721 single base substitution T C synonymous_variant K61K 183A>G COCA-CN 7 140159721 140159721 single base substitution T C upstream_gene_variant COCA-CN 7 140173013 140173013 single base substitution A C intron_variant COCA-CN 7 140180594 140180594 single base substitution A T upstream_gene_variant ESAD-UK 7 140150036 140150036 single base substitution G A downstream_gene_variant ESAD-UK 7 140150295 140150295 single base substitution G C downstream_gene_variant ESAD-UK 7 140150703 140150703 single base substitution T C downstream_gene_variant ESAD-UK 7 140151799 140151799 single base substitution G C downstream_gene_variant ESAD-UK 7 140152760 140152760 single base substitution G A downstream_gene_variant ESAD-UK 7 140153355 140153355 single base substitution G T 3_prime_UTR_variant ESAD-UK 7 140153355 140153355 single base substitution G T downstream_gene_variant ESAD-UK 7 140153355 140153355 single base substitution G T exon_variant ESAD-UK 7 140156813 140156813 single base substitution C T downstream_gene_variant ESAD-UK 7 140156813 140156813 single base substitution C T intron_variant ESAD-UK 7 140156813 140156813 single base substitution C T upstream_gene_variant ESAD-UK 7 140160789 140160789 single base substitution T G intron_variant ESAD-UK 7 140160789 140160789 single base substitution T G upstream_gene_variant ESAD-UK 7 140161445 140161445 single base substitution A T intron_variant ESAD-UK 7 140161445 140161445 single base substitution A T upstream_gene_variant ESAD-UK 7 140163836 140163836 single base substitution G A intron_variant ESAD-UK 7 140164019 140164019 single base substitution C A intron_variant ESAD-UK 7 140164460 140164460 single base substitution G A intron_variant ESAD-UK 7 140164506 140164506 insertion of <=200bp - A intron_variant ESAD-UK 7 140165044 140165044 deletion of <=200bp T - intron_variant ESAD-UK 7 140165049 140165049 single base substitution A C intron_variant ESAD-UK 7 140170133 140170133 single base substitution T C intron_variant ESAD-UK 7 140170492 140170492 single base substitution G A intron_variant ESAD-UK 7 140170727 140170727 single base substitution C A intron_variant ESAD-UK 7 140173334 140173334 single base substitution G A intron_variant ESAD-UK 7 140173745 140173745 single base substitution T C intron_variant ESAD-UK 7 140176998 140176998 single base substitution A C intron_variant ESAD-UK 7 140178094 140178094 insertion of <=200bp - T 5_prime_UTR_variant ESAD-UK 7 140178094 140178094 insertion of <=200bp - T intron_variant ESAD-UK 7 140180511 140180511 single base substitution C T upstream_gene_variant ESAD-UK 7 140181033 140181033 single base substitution A C upstream_gene_variant ESAD-UK 7 140181672 140181672 single base substitution C A upstream_gene_variant ESAD-UK 7 140183356 140183356 single base substitution G A upstream_gene_variant GBM-US 7 140154505 140154505 single base substitution C A 3_prime_UTR_variant GBM-US 7 140154505 140154505 single base substitution C A downstream_gene_variant GBM-US 7 140154505 140154505 single base substitution C A exon_variant GBM-US 7 140154505 140154505 single base substitution C A stop_gained E155* 463G>T GBM-US 7 140154505 140154505 single base substitution C A stop_gained E357* 1069G>T GBM-US 7 140154505 140154505 single base substitution C A stop_gained E421* 1261G>T GBM-US 7 140154505 140154505 single base substitution C A synonymous_variant G73G 219G>T GBM-US 7 140156627 140156627 single base substitution A T 3_prime_UTR_variant GBM-US 7 140156627 140156627 single base substitution A T downstream_gene_variant GBM-US 7 140156627 140156627 single base substitution A T exon_variant GBM-US 7 140156627 140156627 single base substitution A T missense_variant F207I 619T>A GBM-US 7 140156627 140156627 single base substitution A T missense_variant F271I 811T>A GBM-US 7 140156627 140156627 single base substitution A T missense_variant F5I 13T>A GBM-US 7 140156627 140156627 single base substitution A T missense_variant H54Q 162T>A GBM-US 7 140156627 140156627 single base substitution A T upstream_gene_variant KIRC-US 7 140155662 140155662 single base substitution A G 3_prime_UTR_variant KIRC-US 7 140155662 140155662 single base substitution A G downstream_gene_variant KIRC-US 7 140155662 140155662 single base substitution A G exon_variant KIRC-US 7 140155662 140155662 single base substitution A G missense_variant I17T 50T>C KIRC-US 7 140155662 140155662 single base substitution A G missense_variant I278T 833T>C KIRC-US 7 140155662 140155662 single base substitution A G missense_variant I342T 1025T>C KIRC-US 7 140155662 140155662 single base substitution A G missense_variant I76T 227T>C LGG-US 7 140154921 140154922 deletion of <=200bp TC - 3_prime_UTR_variant LGG-US 7 140154921 140154922 deletion of <=200bp TC - downstream_gene_variant LGG-US 7 140154921 140154922 deletion of <=200bp TC - exon_variant LGG-US 7 140154921 140154922 deletion of <=200bp TC - frameshift_variant QK137 LGG-US 7 140154921 140154922 deletion of <=200bp TC - frameshift_variant QK339 LGG-US 7 140154921 140154922 deletion of <=200bp TC - frameshift_variant QK403 LGG-US 7 140154921 140154922 deletion of <=200bp TC - frameshift_variant R56 LGG-US 7 140154990 140154990 single base substitution G A 3_prime_UTR_variant LGG-US 7 140154990 140154990 single base substitution G A downstream_gene_variant LGG-US 7 140154990 140154990 single base substitution G A exon_variant LGG-US 7 140154990 140154990 single base substitution G A missense_variant P115S 343C>T LGG-US 7 140154990 140154990 single base substitution G A missense_variant P317S 949C>T LGG-US 7 140154990 140154990 single base substitution G A missense_variant P381S 1141C>T LGG-US 7 140154990 140154990 single base substitution G A synonymous_variant A33A 99C>T LICA-FR 7 140150896 140150896 single base substitution C A downstream_gene_variant LICA-FR 7 140154895 140154895 single base substitution C T downstream_gene_variant LICA-FR 7 140154895 140154895 single base substitution C T missense_variant G65E 194G>A LICA-FR 7 140154895 140154895 single base substitution C T splice_region_variant LICA-FR 7 140176272 140176272 insertion of <=200bp - A intron_variant LICA-FR 7 140176899 140176899 deletion of <=200bp A - intron_variant LICA-FR 7 140181735 140181735 single base substitution T C upstream_gene_variant LICA-FR 7 140183158 140183158 single base substitution C T upstream_gene_variant LIHC-US 7 140156621 140156621 single base substitution C A 3_prime_UTR_variant LIHC-US 7 140156621 140156621 single base substitution C A downstream_gene_variant LIHC-US 7 140156621 140156621 single base substitution C A exon_variant LIHC-US 7 140156621 140156621 single base substitution C A missense_variant V209L 625G>T LIHC-US 7 140156621 140156621 single base substitution C A missense_variant V273L 817G>T LIHC-US 7 140156621 140156621 single base substitution C A missense_variant V7L 19G>T LIHC-US 7 140156621 140156621 single base substitution C A synonymous_variant P56P 168G>T LIHC-US 7 140156621 140156621 single base substitution C A upstream_gene_variant LINC-JP 7 140155929 140155929 single base substitution G A downstream_gene_variant LINC-JP 7 140155929 140155929 single base substitution G A intron_variant LINC-JP 7 140155929 140155929 single base substitution G A upstream_gene_variant LINC-JP 7 140166952 140166952 single base substitution T C intron_variant LINC-JP 7 140171800 140171800 single base substitution T C 3_prime_UTR_variant LINC-JP 7 140171800 140171800 single base substitution T C 5_prime_UTR_variant LINC-JP 7 140171800 140171800 single base substitution T C exon_variant LINC-JP 7 140171800 140171800 single base substitution T C missense_variant H17R 50A>G LINC-JP 7 140171800 140171800 single base substitution T C missense_variant H2R 5A>G LINC-JP 7 140171800 140171800 single base substitution T C missense_variant H66R 197A>G LINC-JP 7 140173433 140173433 single base substitution G A intron_variant LIRI-JP 7 140148496 140148496 single base substitution G A downstream_gene_variant LIRI-JP 7 140151746 140151746 single base substitution T C downstream_gene_variant LIRI-JP 7 140152278 140152278 single base substitution C T downstream_gene_variant LIRI-JP 7 140152619 140152619 single base substitution G A downstream_gene_variant LIRI-JP 7 140152660 140152660 single base substitution T C downstream_gene_variant LIRI-JP 7 140155817 140155817 single base substitution A G downstream_gene_variant LIRI-JP 7 140155817 140155817 single base substitution A G intron_variant LIRI-JP 7 140155817 140155817 single base substitution A G upstream_gene_variant LIRI-JP 7 140157541 140157541 single base substitution T G downstream_gene_variant LIRI-JP 7 140157541 140157541 single base substitution T G intron_variant LIRI-JP 7 140157541 140157541 single base substitution T G upstream_gene_variant LIRI-JP 7 140159597 140159597 single base substitution T A 3_prime_UTR_variant LIRI-JP 7 140159597 140159597 single base substitution T A downstream_gene_variant LIRI-JP 7 140159597 140159597 single base substitution T A exon_variant LIRI-JP 7 140159597 140159597 single base substitution T A intron_variant LIRI-JP 7 140159597 140159597 single base substitution T A stop_gained R152* 454A>T LIRI-JP 7 140159597 140159597 single base substitution T A stop_gained R88* 262A>T LIRI-JP 7 140159597 140159597 single base substitution T A upstream_gene_variant LIRI-JP 7 140161780 140161780 single base substitution T C intron_variant LIRI-JP 7 140162151 140162153 deletion of <=200bp ATT - intron_variant LIRI-JP 7 140162623 140162623 single base substitution G A intron_variant LIRI-JP 7 140163627 140163627 single base substitution G C intron_variant LIRI-JP 7 140165246 140165246 single base substitution C T intron_variant LIRI-JP 7 140165714 140165714 single base substitution T C intron_variant LIRI-JP 7 140165813 140165813 single base substitution G A intron_variant LIRI-JP 7 140167444 140167444 single base substitution C T intron_variant LIRI-JP 7 140170530 140170530 single base substitution A C intron_variant LIRI-JP 7 140171045 140171045 single base substitution T C intron_variant LIRI-JP 7 140175097 140175097 single base substitution C T exon_variant LIRI-JP 7 140175097 140175097 single base substitution C T intron_variant LIRI-JP 7 140175937 140175937 deletion of <=200bp G - intron_variant LIRI-JP 7 140176018 140176018 single base substitution T C intron_variant LIRI-JP 7 140176516 140176516 single base substitution A C intron_variant LIRI-JP 7 140176690 140176690 single base substitution A C intron_variant LIRI-JP 7 140177151 140177151 single base substitution T C intron_variant LIRI-JP 7 140179300 140179300 single base substitution G T 5_prime_UTR_variant LIRI-JP 7 140179300 140179300 single base substitution G T exon_variant LIRI-JP 7 140179300 140179300 single base substitution G T upstream_gene_variant LIRI-JP 7 140179480 140179480 single base substitution G C upstream_gene_variant LIRI-JP 7 140179921 140179921 single base substitution G T upstream_gene_variant LIRI-JP 7 140181881 140181881 single base substitution C T upstream_gene_variant LIRI-JP 7 140183922 140183922 single base substitution C T upstream_gene_variant LIRI-JP 7 140184279 140184279 single base substitution T C upstream_gene_variant LUSC-KR 7 140151879 140151879 single base substitution T A downstream_gene_variant LUSC-KR 7 140155953 140155953 single base substitution C A downstream_gene_variant LUSC-KR 7 140155953 140155953 single base substitution C A intron_variant LUSC-KR 7 140155953 140155953 single base substitution C A upstream_gene_variant LUSC-KR 7 140156377 140156377 single base substitution G T 3_prime_UTR_variant LUSC-KR 7 140156377 140156377 single base substitution G T downstream_gene_variant LUSC-KR 7 140156377 140156377 single base substitution G T intron_variant LUSC-KR 7 140156377 140156377 single base substitution G T upstream_gene_variant LUSC-KR 7 140156385 140156385 single base substitution T C 3_prime_UTR_variant LUSC-KR 7 140156385 140156385 single base substitution T C downstream_gene_variant LUSC-KR 7 140156385 140156385 single base substitution T C intron_variant LUSC-KR 7 140156385 140156385 single base substitution T C upstream_gene_variant LUSC-KR 7 140158138 140158138 single base substitution C T downstream_gene_variant LUSC-KR 7 140158138 140158138 single base substitution C T intron_variant LUSC-KR 7 140158138 140158138 single base substitution C T upstream_gene_variant LUSC-KR 7 140161113 140161113 single base substitution C T intron_variant LUSC-KR 7 140161113 140161113 single base substitution C T upstream_gene_variant LUSC-KR 7 140163060 140163060 single base substitution C G intron_variant LUSC-KR 7 140166004 140166004 single base substitution A G intron_variant LUSC-KR 7 140167563 140167563 single base substitution G A intron_variant LUSC-KR 7 140167564 140167564 single base substitution A G intron_variant LUSC-KR 7 140171459 140171459 single base substitution G A intron_variant LUSC-KR 7 140177818 140177818 single base substitution C T intron_variant LUSC-KR 7 140182870 140182870 single base substitution A G upstream_gene_variant LUSC-KR 7 140182958 140182958 single base substitution T A upstream_gene_variant LUSC-US 7 140154376 140154376 single base substitution C T 3_prime_UTR_variant LUSC-US 7 140154376 140154376 single base substitution C T downstream_gene_variant LUSC-US 7 140154376 140154376 single base substitution C T exon_variant LUSC-US 7 140154376 140154376 single base substitution C T missense_variant E198K 592G>A LUSC-US 7 140154376 140154376 single base substitution C T missense_variant E400K 1198G>A LUSC-US 7 140154376 140154376 single base substitution C T missense_variant E464K 1390G>A LUSC-US 7 140155025 140155025 single base substitution G A 3_prime_UTR_variant LUSC-US 7 140155025 140155025 single base substitution G A downstream_gene_variant LUSC-US 7 140155025 140155025 single base substitution G A exon_variant LUSC-US 7 140155025 140155025 single base substitution G A missense_variant A103V 308C>T LUSC-US 7 140155025 140155025 single base substitution G A missense_variant A305V 914C>T LUSC-US 7 140155025 140155025 single base substitution G A missense_variant A369V 1106C>T LUSC-US 7 140155025 140155025 single base substitution G A missense_variant R22C 64C>T LUSC-US 7 140156495 140156495 single base substitution G A 3_prime_UTR_variant LUSC-US 7 140156495 140156495 single base substitution G A downstream_gene_variant LUSC-US 7 140156495 140156495 single base substitution G A exon_variant LUSC-US 7 140156495 140156495 single base substitution G A missense_variant R251C 751C>T LUSC-US 7 140156495 140156495 single base substitution G A missense_variant R315C 943C>T LUSC-US 7 140156495 140156495 single base substitution G A missense_variant R49C 145C>T LUSC-US 7 140156495 140156495 single base substitution G A synonymous_variant F98F 294C>T LUSC-US 7 140156495 140156495 single base substitution G A upstream_gene_variant LUSC-US 7 140159596 140159596 single base substitution C T 3_prime_UTR_variant LUSC-US 7 140159596 140159596 single base substitution C T downstream_gene_variant LUSC-US 7 140159596 140159596 single base substitution C T exon_variant LUSC-US 7 140159596 140159596 single base substitution C T intron_variant LUSC-US 7 140159596 140159596 single base substitution C T missense_variant R152K 455G>A LUSC-US 7 140159596 140159596 single base substitution C T missense_variant R88K 263G>A LUSC-US 7 140159596 140159596 single base substitution C T upstream_gene_variant MALY-DE 7 140152669 140152669 single base substitution T C downstream_gene_variant MALY-DE 7 140155935 140155935 single base substitution T A downstream_gene_variant MALY-DE 7 140155935 140155935 single base substitution T A intron_variant MALY-DE 7 140155935 140155935 single base substitution T A upstream_gene_variant MALY-DE 7 140160360 140160360 single base substitution C T intron_variant MALY-DE 7 140160360 140160360 single base substitution C T upstream_gene_variant MALY-DE 7 140169453 140169453 single base substitution C T intron_variant MALY-DE 7 140171195 140171195 single base substitution T G intron_variant MALY-DE 7 140171951 140171951 single base substitution G A intron_variant MALY-DE 7 140175901 140175901 single base substitution C T intron_variant MALY-DE 7 140176082 140176082 single base substitution C T intron_variant MALY-DE 7 140176663 140176663 single base substitution T C intron_variant MALY-DE 7 140177240 140177240 single base substitution C A intron_variant MELA-AU 7 140147942 140147942 single base substitution G A downstream_gene_variant MELA-AU 7 140148254 140148254 single base substitution G A downstream_gene_variant MELA-AU 7 140148443 140148443 single base substitution G A downstream_gene_variant MELA-AU 7 140148747 140148747 single base substitution G A downstream_gene_variant MELA-AU 7 140148903 140148903 single base substitution G A downstream_gene_variant MELA-AU 7 140149199 140149199 single base substitution G A downstream_gene_variant MELA-AU 7 140149509 140149509 single base substitution G A downstream_gene_variant MELA-AU 7 140150821 140150821 single base substitution T C downstream_gene_variant MELA-AU 7 140152501 140152501 single base substitution G A downstream_gene_variant MELA-AU 7 140152507 140152507 single base substitution A T downstream_gene_variant MELA-AU 7 140153810 140153810 single base substitution G A 3_prime_UTR_variant MELA-AU 7 140153810 140153810 single base substitution G A downstream_gene_variant MELA-AU 7 140153810 140153810 single base substitution G A exon_variant MELA-AU 7 140154134 140154134 single base substitution G A 3_prime_UTR_variant MELA-AU 7 140154134 140154134 single base substitution G A downstream_gene_variant MELA-AU 7 140154134 140154134 single base substitution G A exon_variant MELA-AU 7 140154162 140154162 single base substitution G C 3_prime_UTR_variant MELA-AU 7 140154162 140154162 single base substitution G C downstream_gene_variant MELA-AU 7 140154162 140154162 single base substitution G C exon_variant MELA-AU 7 140154858 140154858 single base substitution G A downstream_gene_variant MELA-AU 7 140154858 140154858 single base substitution G A intron_variant MELA-AU 7 140155042 140155042 single base substitution G A downstream_gene_variant MELA-AU 7 140155042 140155042 single base substitution G A exon_variant MELA-AU 7 140155042 140155042 single base substitution G A intron_variant MELA-AU 7 140155496 140155496 single base substitution G A downstream_gene_variant MELA-AU 7 140155496 140155496 single base substitution G A exon_variant MELA-AU 7 140155496 140155496 single base substitution G A intron_variant MELA-AU 7 140155705 140155705 single base substitution G A downstream_gene_variant MELA-AU 7 140155705 140155705 single base substitution G A missense_variant P3S 7C>T MELA-AU 7 140155705 140155705 single base substitution G A splice_region_variant MELA-AU 7 140155736 140155736 single base substitution C T downstream_gene_variant MELA-AU 7 140155736 140155736 single base substitution C T intron_variant MELA-AU 7 140155736 140155736 single base substitution C T upstream_gene_variant MELA-AU 7 140156574 140156574 single base substitution G A 3_prime_UTR_variant MELA-AU 7 140156574 140156574 single base substitution G A downstream_gene_variant MELA-AU 7 140156574 140156574 single base substitution G A exon_variant MELA-AU 7 140156574 140156574 single base substitution G A missense_variant S72F 215C>T MELA-AU 7 140156574 140156574 single base substitution G A synonymous_variant V224V 672C>T MELA-AU 7 140156574 140156574 single base substitution G A synonymous_variant V22V 66C>T MELA-AU 7 140156574 140156574 single base substitution G A synonymous_variant V288V 864C>T MELA-AU 7 140156574 140156574 single base substitution G A upstream_gene_variant MELA-AU 7 140156915 140156915 single base substitution G A downstream_gene_variant MELA-AU 7 140156915 140156915 single base substitution G A intron_variant MELA-AU 7 140156915 140156915 single base substitution G A upstream_gene_variant MELA-AU 7 140157027 140157028 multiple base substitution (>=2bp and <=200bp) AA CC downstream_gene_variant MELA-AU 7 140157027 140157028 multiple base substitution (>=2bp and <=200bp) AA CC intron_variant MELA-AU 7 140157027 140157028 multiple base substitution (>=2bp and <=200bp) AA CC upstream_gene_variant MELA-AU 7 140157349 140157349 single base substitution G A downstream_gene_variant MELA-AU 7 140157349 140157349 single base substitution G A intron_variant MELA-AU 7 140157349 140157349 single base substitution G A upstream_gene_variant MELA-AU 7 140157687 140157687 single base substitution A G downstream_gene_variant MELA-AU 7 140157687 140157687 single base substitution A G intron_variant MELA-AU 7 140157687 140157687 single base substitution A G upstream_gene_variant MELA-AU 7 140157902 140157902 single base substitution G A downstream_gene_variant MELA-AU 7 140157902 140157902 single base substitution G A intron_variant MELA-AU 7 140157902 140157902 single base substitution G A upstream_gene_variant MELA-AU 7 140158264 140158264 single base substitution G A downstream_gene_variant MELA-AU 7 140158264 140158264 single base substitution G A intron_variant MELA-AU 7 140158264 140158264 single base substitution G A upstream_gene_variant MELA-AU 7 140158514 140158514 single base substitution G A downstream_gene_variant MELA-AU 7 140158514 140158514 single base substitution G A intron_variant MELA-AU 7 140158514 140158514 single base substitution G A upstream_gene_variant MELA-AU 7 140158590 140158590 single base substitution G A downstream_gene_variant MELA-AU 7 140158590 140158590 single base substitution G A intron_variant MELA-AU 7 140158590 140158590 single base substitution G A upstream_gene_variant MELA-AU 7 140158608 140158608 single base substitution T G downstream_gene_variant MELA-AU 7 140158608 140158608 single base substitution T G intron_variant MELA-AU 7 140158608 140158608 single base substitution T G upstream_gene_variant MELA-AU 7 140158983 140158983 single base substitution C T 3_prime_UTR_variant MELA-AU 7 140158983 140158983 single base substitution C T downstream_gene_variant MELA-AU 7 140158983 140158983 single base substitution C T exon_variant MELA-AU 7 140158983 140158983 single base substitution C T intron_variant MELA-AU 7 140158983 140158983 single base substitution C T missense_variant E135K 403G>A MELA-AU 7 140158983 140158983 single base substitution C T missense_variant E199K 595G>A MELA-AU 7 140158983 140158983 single base substitution C T upstream_gene_variant MELA-AU 7 140159013 140159013 single base substitution C T 3_prime_UTR_variant MELA-AU 7 140159013 140159013 single base substitution C T downstream_gene_variant MELA-AU 7 140159013 140159013 single base substitution C T exon_variant MELA-AU 7 140159013 140159013 single base substitution C T intron_variant MELA-AU 7 140159013 140159013 single base substitution C T missense_variant A125T 373G>A MELA-AU 7 140159013 140159013 single base substitution C T missense_variant A189T 565G>A MELA-AU 7 140159013 140159013 single base substitution C T upstream_gene_variant MELA-AU 7 140161559 140161559 single base substitution G A intron_variant MELA-AU 7 140161559 140161559 single base substitution G A upstream_gene_variant MELA-AU 7 140161788 140161788 single base substitution G A intron_variant MELA-AU 7 140162123 140162124 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 7 140163462 140163462 single base substitution G A intron_variant MELA-AU 7 140163853 140163853 single base substitution G A intron_variant MELA-AU 7 140163958 140163958 single base substitution A C intron_variant MELA-AU 7 140164368 140164368 single base substitution G A intron_variant MELA-AU 7 140164563 140164563 single base substitution A T intron_variant MELA-AU 7 140164884 140164884 single base substitution G A intron_variant MELA-AU 7 140165065 140165065 single base substitution G A intron_variant MELA-AU 7 140165343 140165344 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 7 140166594 140166594 single base substitution G A intron_variant MELA-AU 7 140166988 140166988 single base substitution G A intron_variant MELA-AU 7 140167473 140167473 single base substitution G A intron_variant MELA-AU 7 140167478 140167478 single base substitution G A intron_variant MELA-AU 7 140168290 140168290 single base substitution C A intron_variant MELA-AU 7 140168597 140168597 single base substitution G T intron_variant MELA-AU 7 140169301 140169301 single base substitution G A intron_variant MELA-AU 7 140169372 140169372 single base substitution G A intron_variant MELA-AU 7 140170299 140170299 single base substitution C T intron_variant MELA-AU 7 140170611 140170611 single base substitution G A intron_variant MELA-AU 7 140170976 140170976 single base substitution G A intron_variant MELA-AU 7 140171166 140171166 single base substitution G A intron_variant MELA-AU 7 140171179 140171179 single base substitution A T intron_variant MELA-AU 7 140171937 140171938 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 7 140172874 140172874 single base substitution G A intron_variant MELA-AU 7 140173465 140173465 single base substitution C T intron_variant MELA-AU 7 140173873 140173873 single base substitution G A intron_variant MELA-AU 7 140173981 140173981 single base substitution G A intron_variant MELA-AU 7 140174155 140174155 single base substitution A G intron_variant MELA-AU 7 140174158 140174158 single base substitution T C intron_variant MELA-AU 7 140175270 140175270 single base substitution G A intron_variant MELA-AU 7 140175598 140175598 single base substitution G T intron_variant MELA-AU 7 140175801 140175801 single base substitution G A intron_variant MELA-AU 7 140176166 140176166 single base substitution G A intron_variant MELA-AU 7 140176747 140176747 single base substitution G A intron_variant MELA-AU 7 140176829 140176829 single base substitution C T intron_variant MELA-AU 7 140176858 140176858 single base substitution A G intron_variant MELA-AU 7 140176884 140176884 single base substitution G A intron_variant MELA-AU 7 140177316 140177316 single base substitution G T intron_variant MELA-AU 7 140177635 140177635 single base substitution G A intron_variant MELA-AU 7 140179363 140179363 single base substitution C T 5_prime_UTR_variant MELA-AU 7 140179363 140179363 single base substitution C T upstream_gene_variant MELA-AU 7 140179386 140179386 single base substitution C T upstream_gene_variant MELA-AU 7 140179413 140179413 single base substitution C T upstream_gene_variant MELA-AU 7 140180327 140180327 single base substitution G A upstream_gene_variant MELA-AU 7 140180344 140180344 single base substitution C T upstream_gene_variant MELA-AU 7 140180433 140180433 single base substitution C T upstream_gene_variant MELA-AU 7 140180511 140180511 single base substitution C T upstream_gene_variant MELA-AU 7 140180565 140180565 single base substitution C T upstream_gene_variant MELA-AU 7 140180609 140180609 single base substitution A C upstream_gene_variant MELA-AU 7 140181109 140181110 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 7 140181557 140181557 single base substitution G A upstream_gene_variant MELA-AU 7 140182130 140182130 single base substitution C T upstream_gene_variant MELA-AU 7 140182161 140182161 single base substitution A G upstream_gene_variant MELA-AU 7 140182248 140182248 single base substitution C T upstream_gene_variant MELA-AU 7 140182370 140182370 single base substitution G A upstream_gene_variant MELA-AU 7 140182374 140182374 single base substitution G A upstream_gene_variant MELA-AU 7 140182494 140182494 single base substitution C T upstream_gene_variant MELA-AU 7 140182747 140182747 single base substitution G A upstream_gene_variant MELA-AU 7 140183071 140183071 single base substitution G A upstream_gene_variant MELA-AU 7 140183381 140183381 single base substitution A G upstream_gene_variant MELA-AU 7 140183541 140183541 single base substitution G A upstream_gene_variant MELA-AU 7 140183681 140183681 single base substitution A G upstream_gene_variant MELA-AU 7 140183699 140183699 single base substitution G A upstream_gene_variant MELA-AU 7 140183701 140183701 single base substitution G A upstream_gene_variant MELA-AU 7 140183713 140183713 single base substitution C T upstream_gene_variant MELA-AU 7 140184174 140184174 single base substitution C T upstream_gene_variant MELA-AU 7 140184241 140184241 single base substitution G A upstream_gene_variant ORCA-IN 7 140171552 140171552 single base substitution G C intron_variant OV-AU 7 140150657 140150657 single base substitution T C downstream_gene_variant OV-AU 7 140159675 140159675 single base substitution A G 3_prime_UTR_variant OV-AU 7 140159675 140159675 single base substitution A G downstream_gene_variant OV-AU 7 140159675 140159675 single base substitution A G exon_variant OV-AU 7 140159675 140159675 single base substitution A G intron_variant OV-AU 7 140159675 140159675 single base substitution A G missense_variant S126P 376T>C OV-AU 7 140159675 140159675 single base substitution A G missense_variant S62P 184T>C OV-AU 7 140159675 140159675 single base substitution A G missense_variant S77P 229T>C OV-AU 7 140159675 140159675 single base substitution A G upstream_gene_variant OV-AU 7 140166105 140166105 single base substitution C G intron_variant OV-AU 7 140170044 140170044 single base substitution G T intron_variant OV-AU 7 140172312 140172312 single base substitution G C intron_variant OV-AU 7 140181171 140181171 single base substitution G A upstream_gene_variant OV-US 7 140154928 140154928 single base substitution C G 3_prime_UTR_variant OV-US 7 140154928 140154928 single base substitution C G downstream_gene_variant OV-US 7 140154928 140154928 single base substitution C G exon_variant OV-US 7 140154928 140154928 single base substitution C G missense_variant Q135H 405G>C OV-US 7 140154928 140154928 single base substitution C G missense_variant Q337H 1011G>C OV-US 7 140154928 140154928 single base substitution C G missense_variant Q401H 1203G>C OV-US 7 140154928 140154928 single base substitution C G missense_variant R54T 161G>C PACA-AU 7 140150497 140150497 single base substitution G A downstream_gene_variant PACA-AU 7 140168620 140168620 single base substitution G T intron_variant PACA-AU 7 140169465 140169465 single base substitution C T intron_variant PACA-AU 7 140172564 140172564 deletion of <=200bp A - intron_variant PACA-AU 7 140173870 140173870 single base substitution A G intron_variant PACA-AU 7 140175440 140175440 single base substitution G C intron_variant PACA-AU 7 140178027 140178027 single base substitution C A 5_prime_UTR_variant PACA-AU 7 140178027 140178027 single base substitution C A intron_variant PACA-AU 7 140182721 140182721 single base substitution C T upstream_gene_variant PACA-CA 7 140153577 140153577 single base substitution G A 3_prime_UTR_variant PACA-CA 7 140153577 140153577 single base substitution G A downstream_gene_variant PACA-CA 7 140153577 140153577 single base substitution G A exon_variant PACA-CA 7 140156622 140156622 single base substitution G A 3_prime_UTR_variant PACA-CA 7 140156622 140156622 single base substitution G A downstream_gene_variant PACA-CA 7 140156622 140156622 single base substitution G A exon_variant PACA-CA 7 140156622 140156622 single base substitution G A missense_variant P56L 167C>T PACA-CA 7 140156622 140156622 single base substitution G A synonymous_variant A208A 624C>T PACA-CA 7 140156622 140156622 single base substitution G A synonymous_variant A272A 816C>T PACA-CA 7 140156622 140156622 single base substitution G A synonymous_variant A6A 18C>T PACA-CA 7 140156622 140156622 single base substitution G A upstream_gene_variant PACA-CA 7 140159091 140159091 single base substitution G A downstream_gene_variant PACA-CA 7 140159091 140159091 single base substitution G A intron_variant PACA-CA 7 140159091 140159091 single base substitution G A upstream_gene_variant PACA-CA 7 140163505 140163505 single base substitution G A intron_variant PACA-CA 7 140167577 140167577 single base substitution C T intron_variant PACA-CA 7 140167950 140167950 single base substitution A C intron_variant PACA-CA 7 140170118 140170118 single base substitution C T intron_variant PACA-CA 7 140172818 140172818 single base substitution G C intron_variant PACA-CA 7 140178129 140178129 single base substitution C T 5_prime_UTR_variant PACA-CA 7 140178129 140178129 single base substitution C T intron_variant PACA-CA 7 140179287 140179287 single base substitution C G 5_prime_UTR_variant PACA-CA 7 140179287 140179287 single base substitution C G exon_variant PACA-CA 7 140179287 140179287 single base substitution C G upstream_gene_variant PAEN-AU 7 140183022 140183022 single base substitution A G upstream_gene_variant PBCA-DE 7 140148287 140148287 single base substitution G C downstream_gene_variant PBCA-DE 7 140148336 140148336 single base substitution C T downstream_gene_variant PBCA-DE 7 140148646 140148646 single base substitution C A downstream_gene_variant PBCA-DE 7 140153643 140153643 single base substitution T C 3_prime_UTR_variant PBCA-DE 7 140153643 140153643 single base substitution T C downstream_gene_variant PBCA-DE 7 140153643 140153643 single base substitution T C exon_variant PBCA-DE 7 140161170 140161170 single base substitution C T intron_variant PBCA-DE 7 140161170 140161170 single base substitution C T upstream_gene_variant PBCA-DE 7 140166159 140166159 single base substitution C A intron_variant PBCA-DE 7 140174515 140174515 single base substitution T C intron_variant PBCA-DE 7 140174810 140174810 single base substitution C T intron_variant PBCA-DE 7 140174951 140174951 deletion of <=200bp G - intron_variant PRAD-CA 7 140151142 140151142 single base substitution C A downstream_gene_variant PRAD-CA 7 140154695 140154695 single base substitution G A downstream_gene_variant PRAD-CA 7 140154695 140154695 single base substitution G A intron_variant PRAD-UK 7 140154695 140154695 single base substitution G A downstream_gene_variant PRAD-UK 7 140154695 140154695 single base substitution G A intron_variant PRAD-UK 7 140155790 140155790 insertion of <=200bp - A downstream_gene_variant PRAD-UK 7 140155790 140155790 insertion of <=200bp - A intron_variant PRAD-UK 7 140155790 140155790 insertion of <=200bp - A upstream_gene_variant PRAD-UK 7 140164219 140164219 single base substitution A G intron_variant PRAD-UK 7 140168095 140168095 single base substitution C A intron_variant PRAD-US 7 140158897 140158897 deletion of <=200bp G - 3_prime_UTR_variant PRAD-US 7 140158897 140158897 deletion of <=200bp G - downstream_gene_variant PRAD-US 7 140158897 140158897 deletion of <=200bp G - exon_variant PRAD-US 7 140158897 140158897 deletion of <=200bp G - frameshift_variant N163 PRAD-US 7 140158897 140158897 deletion of <=200bp G - frameshift_variant N227 PRAD-US 7 140158897 140158897 deletion of <=200bp G - intron_variant PRAD-US 7 140158897 140158897 deletion of <=200bp G - upstream_gene_variant READ-US 7 140154391 140154391 single base substitution C T 3_prime_UTR_variant READ-US 7 140154391 140154391 single base substitution C T downstream_gene_variant READ-US 7 140154391 140154391 single base substitution C T exon_variant READ-US 7 140154391 140154391 single base substitution C T missense_variant E193K 577G>A READ-US 7 140154391 140154391 single base substitution C T missense_variant E395K 1183G>A READ-US 7 140154391 140154391 single base substitution C T missense_variant E459K 1375G>A READ-US 7 140154391 140154391 single base substitution C T synonymous_variant T111T 333G>A RECA-EU 7 140162168 140162168 single base substitution T C intron_variant RECA-EU 7 140181626 140181626 single base substitution A T upstream_gene_variant SKCA-BR 7 140147946 140147946 single base substitution A G downstream_gene_variant SKCA-BR 7 140151469 140151469 single base substitution T G downstream_gene_variant SKCA-BR 7 140154154 140154154 single base substitution G A 3_prime_UTR_variant SKCA-BR 7 140154154 140154154 single base substitution G A downstream_gene_variant SKCA-BR 7 140154154 140154154 single base substitution G A exon_variant SKCA-BR 7 140155704 140155704 single base substitution G A downstream_gene_variant SKCA-BR 7 140155704 140155704 single base substitution G A missense_variant P3L 8C>T SKCA-BR 7 140155704 140155704 single base substitution G A splice_region_variant SKCA-BR 7 140155705 140155705 single base substitution G A downstream_gene_variant SKCA-BR 7 140155705 140155705 single base substitution G A missense_variant P3S 7C>T SKCA-BR 7 140155705 140155705 single base substitution G A splice_region_variant SKCA-BR 7 140156132 140156132 single base substitution C T 3_prime_UTR_variant SKCA-BR 7 140156132 140156132 single base substitution C T downstream_gene_variant SKCA-BR 7 140156132 140156132 single base substitution C T intron_variant SKCA-BR 7 140156132 140156132 single base substitution C T upstream_gene_variant SKCA-BR 7 140158055 140158055 single base substitution C T downstream_gene_variant SKCA-BR 7 140158055 140158055 single base substitution C T intron_variant SKCA-BR 7 140158055 140158055 single base substitution C T upstream_gene_variant SKCA-BR 7 140158764 140158764 single base substitution G A downstream_gene_variant SKCA-BR 7 140158764 140158764 single base substitution G A intron_variant SKCA-BR 7 140158764 140158764 single base substitution G A upstream_gene_variant SKCA-BR 7 140160110 140160112 deletion of <=200bp CTT - intron_variant SKCA-BR 7 140160110 140160112 deletion of <=200bp CTT - upstream_gene_variant SKCA-BR 7 140161104 140161104 single base substitution C A intron_variant SKCA-BR 7 140161104 140161104 single base substitution C A upstream_gene_variant SKCA-BR 7 140161219 140161219 single base substitution G C intron_variant SKCA-BR 7 140161219 140161219 single base substitution G C upstream_gene_variant SKCA-BR 7 140166779 140166782 deletion of <=200bp CTTT - intron_variant SKCA-BR 7 140167212 140167212 single base substitution G A intron_variant SKCA-BR 7 140168057 140168057 single base substitution A G intron_variant SKCA-BR 7 140169487 140169487 single base substitution T G intron_variant SKCA-BR 7 140173803 140173841 deletion of <=200bp AAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG - intron_variant SKCA-BR 7 140173804 140173833 deletion of <=200bp AAAAAGAAAGAAAGAAAGAAAGAAAGAAAG - intron_variant SKCA-BR 7 140173804 140173841 deletion of <=200bp AAAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAG - intron_variant SKCA-BR 7 140173809 140173809 single base substitution G A intron_variant SKCA-BR 7 140174655 140174655 single base substitution A G intron_variant SKCA-BR 7 140174797 140174797 single base substitution G A intron_variant SKCA-BR 7 140174811 140174811 single base substitution G A intron_variant SKCA-BR 7 140175280 140175280 single base substitution T G intron_variant SKCA-BR 7 140176228 140176228 single base substitution C T intron_variant SKCA-BR 7 140177483 140177486 deletion of <=200bp CCTT - intron_variant SKCA-BR 7 140179412 140179412 single base substitution T G upstream_gene_variant SKCA-BR 7 140180564 140180564 single base substitution C T upstream_gene_variant SKCA-BR 7 140181012 140181012 single base substitution G C upstream_gene_variant SKCA-BR 7 140182648 140182648 single base substitution C T upstream_gene_variant SKCM-US 7 140156541 140156541 single base substitution G A 3_prime_UTR_variant SKCM-US 7 140156541 140156541 single base substitution G A downstream_gene_variant SKCM-US 7 140156541 140156541 single base substitution G A exon_variant SKCM-US 7 140156541 140156541 single base substitution G A missense_variant S83L 248C>T SKCM-US 7 140156541 140156541 single base substitution G A synonymous_variant F235F 705C>T SKCM-US 7 140156541 140156541 single base substitution G A synonymous_variant F299F 897C>T SKCM-US 7 140156541 140156541 single base substitution G A synonymous_variant F33F 99C>T SKCM-US 7 140156541 140156541 single base substitution G A upstream_gene_variant SKCM-US 7 140156574 140156574 single base substitution G A 3_prime_UTR_variant SKCM-US 7 140156574 140156574 single base substitution G A downstream_gene_variant SKCM-US 7 140156574 140156574 single base substitution G A exon_variant SKCM-US 7 140156574 140156574 single base substitution G A missense_variant S72F 215C>T SKCM-US 7 140156574 140156574 single base substitution G A synonymous_variant V224V 672C>T SKCM-US 7 140156574 140156574 single base substitution G A synonymous_variant V22V 66C>T SKCM-US 7 140156574 140156574 single base substitution G A synonymous_variant V288V 864C>T SKCM-US 7 140156574 140156574 single base substitution G A upstream_gene_variant SKCM-US 7 140156594 140156594 single base substitution C T 3_prime_UTR_variant SKCM-US 7 140156594 140156594 single base substitution C T downstream_gene_variant SKCM-US 7 140156594 140156594 single base substitution C T exon_variant SKCM-US 7 140156594 140156594 single base substitution C T missense_variant G16R 46G>A SKCM-US 7 140156594 140156594 single base substitution C T missense_variant G218R 652G>A SKCM-US 7 140156594 140156594 single base substitution C T missense_variant G282R 844G>A SKCM-US 7 140156594 140156594 single base substitution C T synonymous_variant V65V 195G>A SKCM-US 7 140156594 140156594 single base substitution C T upstream_gene_variant STAD-US 7 140156541 140156541 single base substitution G A 3_prime_UTR_variant STAD-US 7 140156541 140156541 single base substitution G A downstream_gene_variant STAD-US 7 140156541 140156541 single base substitution G A exon_variant STAD-US 7 140156541 140156541 single base substitution G A missense_variant S83L 248C>T STAD-US 7 140156541 140156541 single base substitution G A synonymous_variant F235F 705C>T STAD-US 7 140156541 140156541 single base substitution G A synonymous_variant F299F 897C>T STAD-US 7 140156541 140156541 single base substitution G A synonymous_variant F33F 99C>T STAD-US 7 140156541 140156541 single base substitution G A upstream_gene_variant STAD-US 7 140158906 140158906 single base substitution G A 3_prime_UTR_variant STAD-US 7 140158906 140158906 single base substitution G A downstream_gene_variant STAD-US 7 140158906 140158906 single base substitution G A exon_variant STAD-US 7 140158906 140158906 single base substitution G A intron_variant STAD-US 7 140158906 140158906 single base substitution G A synonymous_variant Y160Y 480C>T STAD-US 7 140158906 140158906 single base substitution G A synonymous_variant Y224Y 672C>T STAD-US 7 140158906 140158906 single base substitution G A upstream_gene_variant STAD-US 7 140159029 140159029 single base substitution C T 3_prime_UTR_variant STAD-US 7 140159029 140159029 single base substitution C T downstream_gene_variant STAD-US 7 140159029 140159029 single base substitution C T exon_variant STAD-US 7 140159029 140159029 single base substitution C T intron_variant STAD-US 7 140159029 140159029 single base substitution C T synonymous_variant A119A 357G>A STAD-US 7 140159029 140159029 single base substitution C T synonymous_variant A183A 549G>A STAD-US 7 140159029 140159029 single base substitution C T upstream_gene_variant STAD-US 7 140171773 140171773 single base substitution C G 3_prime_UTR_variant STAD-US 7 140171773 140171773 single base substitution C G 5_prime_UTR_variant STAD-US 7 140171773 140171773 single base substitution C G exon_variant STAD-US 7 140171773 140171773 single base substitution C G missense_variant C11S 32G>C STAD-US 7 140171773 140171773 single base substitution C G missense_variant C26S 77G>C STAD-US 7 140171773 140171773 single base substitution C G missense_variant C75S 224G>C THCA-SA 7 140158851 140158851 single base substitution C G 3_prime_UTR_variant THCA-SA 7 140158851 140158851 single base substitution C G downstream_gene_variant THCA-SA 7 140158851 140158851 single base substitution C G exon_variant THCA-SA 7 140158851 140158851 single base substitution C G intron_variant THCA-SA 7 140158851 140158851 single base substitution C G missense_variant V179L 535G>C THCA-SA 7 140158851 140158851 single base substitution C G missense_variant V243L 727G>C THCA-SA 7 140158851 140158851 single base substitution C G upstream_gene_variant THCA-US 7 140155658 140155658 single base substitution T A 3_prime_UTR_variant THCA-US 7 140155658 140155658 single base substitution T A downstream_gene_variant THCA-US 7 140155658 140155658 single base substitution T A exon_variant THCA-US 7 140155658 140155658 single base substitution T A splice_region_variant THCA-US 7 140155658 140155658 single base substitution T A synonymous_variant P279P 837A>T THCA-US 7 140155658 140155658 single base substitution T A synonymous_variant P343P 1029A>T THCA-US 7 140155658 140155658 single base substitution T A synonymous_variant P77P 231A>T THCA-US 7 140179061 140179061 deletion of <=200bp G - 5_prime_UTR_variant THCA-US 7 140179061 140179061 deletion of <=200bp G - exon_variant THCA-US 7 140179061 140179061 deletion of <=200bp G - frameshift_variant P28 THCA-US 7 140179061 140179061 deletion of <=200bp G - upstream_gene_variant UCEC-US 7 140155047 140155047 single base substitution T C downstream_gene_variant UCEC-US 7 140155047 140155047 single base substitution T C exon_variant UCEC-US 7 140155047 140155047 single base substitution T C intron_variant UCEC-US 7 140155652 140155652 single base substitution C A 3_prime_UTR_variant UCEC-US 7 140155652 140155652 single base substitution C A downstream_gene_variant UCEC-US 7 140155652 140155652 single base substitution C A exon_variant UCEC-US 7 140155652 140155652 single base substitution C A intron_variant UCEC-US 7 140155652 140155652 single base substitution C A missense_variant E281D 843G>T UCEC-US 7 140155652 140155652 single base substitution C A missense_variant E345D 1035G>T UCEC-US 7 140155652 140155652 single base substitution C A missense_variant E79D 237G>T UCEC-US 7 140159651 140159651 single base substitution G T 3_prime_UTR_variant UCEC-US 7 140159651 140159651 single base substitution G T downstream_gene_variant UCEC-US 7 140159651 140159651 single base substitution G T exon_variant UCEC-US 7 140159651 140159651 single base substitution G T intron_variant UCEC-US 7 140159651 140159651 single base substitution G T missense_variant L134I 400C>A UCEC-US 7 140159651 140159651 single base substitution G T missense_variant L70I 208C>A UCEC-US 7 140159651 140159651 single base substitution G T missense_variant L85I 253C>A UCEC-US 7 140159651 140159651 single base substitution G T upstream_gene_variant UCEC-US 7 140159711 140159711 single base substitution G A 3_prime_UTR_variant UCEC-US 7 140159711 140159711 single base substitution G A downstream_gene_variant UCEC-US 7 140159711 140159711 single base substitution G A exon_variant UCEC-US 7 140159711 140159711 single base substitution G A intron_variant UCEC-US 7 140159711 140159711 single base substitution G A stop_gained Q114* 340C>T UCEC-US 7 140159711 140159711 single base substitution G A stop_gained Q50* 148C>T UCEC-US 7 140159711 140159711 single base substitution G A stop_gained Q65* 193C>T UCEC-US 7 140159711 140159711 single base substitution G A upstream_gene_variant UCEC-US 7 140171699 140171699 deletion of <=200bp A - 3_prime_UTR_variant UCEC-US 7 140171699 140171699 deletion of <=200bp A - 5_prime_UTR_variant UCEC-US 7 140171699 140171699 deletion of <=200bp A - exon_variant UCEC-US 7 140171699 140171699 deletion of <=200bp A - frameshift_variant Y100 UCEC-US 7 140171699 140171699 deletion of <=200bp A - frameshift_variant Y36 UCEC-US 7 140171699 140171699 deletion of <=200bp A - frameshift_variant Y51 UCEC-US 7 140179074 140179074 single base substitution G A 5_prime_UTR_variant UCEC-US 7 140179074 140179074 single base substitution G A exon_variant UCEC-US 7 140179074 140179074 single base substitution G A missense_variant A24V 71C>T UCEC-US 7 140179074 140179074 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 2461404 COSM5415837 c.1202A>T p.Q401L Substitution - Missense 7:140455129-140455129 - RW2982 COSM4649781 c.442G>A p.E148K Substitution - Missense 7:140459809-140459809 - TCGA-GC-A3I6-01 COSM1312750 c.678G>A p.E226E Substitution - coding silent 7:140459100-140459100 - 587256 COSM1215147 c.1243C>T p.R415* Substitution - Nonsense 7:140454723-140454723 - TCGA-D7-8572-01 COSM3878725 c.224G>C p.C75S Substitution - Missense 7:140471973-140471973 - T407 COSM4702312 c.696C>T p.H232H Substitution - coding silent 7:140459082-140459082 - TCGA-BR-4370-01 COSM2861268 c.897C>T p.F299F Substitution - coding silent 7:140456741-140456741 - ESO-717 COSM1242515 c.405A>G p.S135S Substitution - coding silent 7:140459846-140459846 - TCGA-DU-6393-01 COSM3928857 c.1141C>T p.P381S Substitution - Missense 7:140455190-140455190 - PT31 COSM452455 c.1294T>A p.F432I Substitution - Missense 7:140454672-140454672 - DLD1 COSM4625944 c.286G>T p.G96W Substitution - Missense 7:140471911-140471911 - RKO COSM4649073 c.256T>C p.Y86H Substitution - Missense 7:140471941-140471941 - TCGA-66-2792-01 COSM745362 c.943C>T p.R315C Substitution - Missense 7:140456695-140456695 - YUBER COSM1699448 c.1303G>A p.D435N Substitution - Missense 7:140454663-140454663 - TCGA-06-0125-02 COSM2149342 c.811T>A p.F271I Substitution - Missense 7:140456827-140456827 - TCGA-66-2759-01 COSM745360 c.455G>A p.R152K Substitution - Missense 7:140459796-140459796 - PT52 COSM745362 c.943C>T p.R315C Substitution - Missense 7:140456695-140456695 - TCGA-B5-A11E-01 COSM1086226 c.1035G>T p.E345D Substitution - Missense 7:140455852-140455852 - TCGA-A3-3387-01 COSM484936 c.1025T>C p.I342T Substitution - Missense 7:140455862-140455862 - TCGA-F5-6814-01 COSM3431312 c.1375G>A p.E459K Substitution - Missense 7:140454591-140454591 - cSCCP1 COSM134239 c.676G>A p.E226K Substitution - Missense 7:140459102-140459102 - TCGA-23-1124-01 COSM75421 c.1203G>C p.Q401H Substitution - Missense 7:140455128-140455128 - TCGA-D1-A103-01 COSM1086230 c.71C>T p.A24V Substitution - Missense 7:140479274-140479274 - PT41 COSM5924435 c.987-5C>T p.? Unknown 7:140455905-140455905 - 19M COSM5578979 c.74C>G p.A25G Substitution - Missense 7:140479271-140479271 - TCGA-06-0125 COSM2149342 c.811T>A p.F271I Substitution - Missense 7:140456827-140456827 - TCGA-EE-A3AA-06 COSM3634223 c.864C>T p.V288V Substitution - coding silent 7:140456774-140456774 - 3N07-VS-3T07 COSM4978930 c.756A>T p.R252S Substitution - Missense 7:140459022-140459022 - 2461402 COSM5415837 c.1202A>T p.Q401L Substitution - Missense 7:140455129-140455129 - TCGA-HU-A4GU-01 COSM3878724 c.549G>A p.A183A Substitution - coding silent 7:140459229-140459229 - T207 COSM4702311 c.1373A>G p.D458G Substitution - Missense 7:140454593-140454593 - RK308_C01 COSM3745562 c.454A>T p.R152* Substitution - Nonsense 7:140459797-140459797 - BN20T COSM1622433 c.197A>G p.H66R Substitution - Missense 7:140472000-140472000 - S00827 COSM312882 c.1186_1187CG>TC p.R396>? Complex 7:140455144-140455145 - TCGA-66-2778-01 COSM745364 c.1390G>A p.E464K Substitution - Missense 7:140454576-140454576 - S00827 COSM312882 c.1186_1187CG>TC p.R396>? Complex 7:140455144-140455145 - LUAD-YINHD COSM351544 c.490G>T p.E164* Substitution - Nonsense 7:140459761-140459761 - TCGA-41-3393-01 COSM3411663 c.1261G>T p.E421* Substitution - Nonsense 7:140454705-140454705 - PT31 COSM5906813 c.1295T>C p.F432S Substitution - Missense 7:140454671-140454671 - ESCC_82 COSM5636184 c.665G>A p.C222Y Substitution - Missense 7:140459113-140459113 - HT115 COSM2861276 c.615C>T p.T205T Substitution - coding silent 7:140459163-140459163 - PCSI_0337_Pa_P_526 COSM4807886 c.816C>T p.A272A Substitution - coding silent 7:140456822-140456822 - 2461403 COSM5415837 c.1202A>T p.Q401L Substitution - Missense 7:140455129-140455129 - MO_1114 COSM5559504 c.116T>G p.L39R Substitution - Missense 7:140479229-140479229 - TCGA-ER-A19B-06 COSM3634224 c.844G>A p.G282R Substitution - Missense 7:140456794-140456794 - CSCC-15-T COSM4560774 c.856G>A p.E286K Substitution - Missense 7:140456782-140456782 - sysucc-834T COSM5486819 c.330A>G p.K110K Substitution - coding silent 7:140459921-140459921 - AOCS-124-1-X COSM4153886 c.376T>C p.S126P Substitution - Missense 7:140459875-140459875 - LUAD-D02185 COSM338835 c.1364G>T p.G455V Substitution - Missense 7:140454602-140454602 - TCGA-BR-4292-01 COSM3878723 c.672C>T p.Y224Y Substitution - coding silent 7:140459106-140459106 - TCGA-DD-A113-01 COSM4925305 c.817G>T p.V273L Substitution - Missense 7:140456821-140456821 - 587394 COSM1215146 c.1033G>A p.E345K Substitution - Missense 7:140455854-140455854 - BN20 COSM1622433 c.197A>G p.H66R Substitution - Missense 7:140472000-140472000 - 35M COSM5581664 c.1185C>T p.G395G Substitution - coding silent 7:140455146-140455146 - CSCC-60-T COSM4568941 c.1416T>A p.D472E Substitution - Missense 7:140454550-140454550 - TCGA-F4-6703-01 COSM1448558 c.1335C>T p.G445G Substitution - coding silent 7:140454631-140454631 - T3094 COSM4702313 c.234G>A p.S78S Substitution - coding silent 7:140471963-140471963 - T5 COSM5486819 c.330A>G p.K110K Substitution - coding silent 7:140459921-140459921 - TCGA-AP-A0LM-01 COSM1086227 c.400C>A p.L134I Substitution - Missense 7:140459851-140459851 - LUAD-S01315 COSM345920 c.1194G>T p.E398D Substitution - Missense 7:140455137-140455137 - TCGA-AD-6895-01 COSM1448560 c.73G>A p.A25T Substitution - Missense 7:140479272-140479272 - TCGA-EE-A3JD-06 COSM2861268 c.897C>T p.F299F Substitution - coding silent 7:140456741-140456741 - TCGA-AO-A124-01 COSM452455 c.1294T>A p.F432I Substitution - Missense 7:140454672-140454672 - BD104T COSM5490742 c.1173G>A p.A391A Substitution - coding silent 7:140455158-140455158 - TCGA-GV-A3QH-01 COSM1312751 c.402C>G p.L134L Substitution - coding silent 7:140459849-140459849 - TCGA-BG-A0MQ-01 COSM1086228 c.340C>T p.Q114* Substitution - Nonsense 7:140459911-140459911 - CHC1152T COSM4791241 c.1236G>A p.R412R Substitution - coding silent 7:140455095-140455095 - CHC1152T COSM4791241 c.1236G>A p.R412R Substitution - coding silent 7:140455095-140455095 - TCGA-C8-A12P-01 COSM204990 c.1336G>A p.E446K Substitution - Missense 7:140454630-140454630 - 3206A7_017_T COSM5038616 c.468delT p.F156fs*4 Deletion - Frameshift 7:140459783-140459783 - TCGA-22-1002-01 COSM745363 c.1106C>T p.A369V Substitution - Missense 7:140455225-140455225 - TCGA-E8-A436-01 COSM3374513 c.1029A>T p.P343P Substitution - coding silent 7:140455858-140455858 - H1299 COSM1193393 c.469G>A p.A157T Substitution - Missense 7:140459782-140459782 - SC_9016 COSM5565466 c.892C>T p.R298C Substitution - Missense 7:140456746-140456746 - TCGA-AJ-A23M-01 COSM1086229 c.298delT p.Y100fs*13 Deletion - Frameshift 7:140471899-140471899 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.490347 7q34 607754 2467330|CGAP|BC025955|C/T|non-coding||2961|Candidate; 2467330|CGAP|BC037400|C/T|non-coding||2813|Candidate; 2467330|CGAP|BC064838|C/T|non-coding||2807|Candidate; 2467339|CGAP|BC025955|C/G|coding|Leu243Val|884|Candidate; 2467339|CGAP|BC037400|C/G|coding|Val243Leu|736|Candidate; 2467339|CGAP|BC064838|C/G|coding|Val243Leu|729|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C IntronicSNV . c.772-236T>G 7 140156902 CLL A - Frameshift p.Y100Mfs*13 c.298delT 7 140171699 UCEC A G Missense p.I342T c.1025T>C 7 140155662 RCCC A T Missense p.F271I c.811T>A 7 140156627 GBM A T Missense p.F432I c.1294T>A 7 140154472 BRCA C A Nonsense p.E421* c.1261G>T 7 140154505 GBM CG GA Missense p.R396S c.1186_1187delinsTC 7 140154944 SCLC C G Missense p.E399Q c.1195G>C 7 140154936 HNSC C G Missense p.E399Q c.1195G>C 7 140154936 LUAD C G Missense p.E473D c.1419G>C 7 140154347 CM C G Missense p.Q401H c.1203G>C 7 140154928 OV C T Missense p.E446K c.1336G>A 7 140154430 BRCA C T Missense p.E464K c.1390G>A 7 140154376 LUSC C T Missense p.G282R c.844G>A 7 140156594 CM C T Missense p.M450I c.1350G>A 7 140154416 LUAD C T Missense p.R152K c.455G>A 7 140159596 LUSC C T Synonymous p.E226E c.678G>A 7 140158900 BLCA G A IntronicSNV . c.1097+84C>T 7 140155506 CM G A IntronicSNV . c.1098-9C>T 7 140155042 CM G A IntronicSNV . c.987-5C>T 7 140155705 CM G A Missense p.A369V c.1106C>T 7 140155025 LUSC G A Missense p.P381S c.1141C>T 7 140154990 LGG G A Missense p.R315C c.943C>T 7 140156495 LUSC G A Nonsense p.Q114* c.340C>T 7 140159711 UCEC G A Synonymous p.F299F c.897C>T 7 140156541 CM G A Synonymous p.F299F c.897C>T 7 140156541 STAD G A Synonymous p.V288V c.864C>T 7 140156574 CM G A Synonymous p.Y224Y c.672C>T 7 140158906 STAD G C Missense p.S127C c.380C>G 7 140159671 HNSC G C Synonymous p.L134L c.402C>G 7 140159649 BLCA G - Frameshift p.C228Vfs*101 c.681delC 7 140158897 PRAD G - Frameshift p.T29Pfs*60 c.84delC 7 140179061 THCA G - IntronicDeletion . c.186-2427delC 7 140174238 STAD G T 5-UTRSNV . c.1-156C>A 7 140179300 HC T A IntronicSNV . c.1098-71A>T 7 140155104 PIA TC - Frameshift p.K404Sfs*20 c.1209_1210delGA 7 140154921 LGG T C IntronicSNV . c.186-2704A>G 7 140174515 MB