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 1 33134949 33134949 + Silent SNP A A G TCGA-OR-A5LJ-01A-11D-A29I-10 TCGA-OR-A5LJ-10A-01D-A29L-10 g.chr1:33134949A>G c.879A>G c.(877-879)tcA>tcG p.S293S BLCA 1 33117606 33117606 + Missense_Mutation SNP G G A TCGA-HQ-A5NE-01A-12D-A289-08 TCGA-HQ-A5NE-10A-01D-A289-08 g.chr1:33117606G>A c.108G>A c.(106-108)atG>atA p.M36I BLCA 1 33134446 33134446 + Silent SNP A A C TCGA-ZF-AA56-01A-31D-A391-08 TCGA-ZF-AA56-10A-01D-A394-08 g.chr1:33134446A>C c.591A>C c.(589-591)tcA>tcC p.S197S BLCA 1 33134689 33134689 + Silent SNP T T C TCGA-GC-A3RC-01A-11D-A22Z-08 TCGA-GC-A3RC-10B-01D-A22Z-08 g.chr1:33134689T>C c.717T>C c.(715-717)caT>caC p.H239H BLCA 1 33135116 33135116 + Silent SNP G G A TCGA-ZF-AA51-01A-21D-A391-08 TCGA-ZF-AA51-10A-01D-A394-08 g.chr1:33135116G>A c.918G>A c.(916-918)ctG>ctA p.L306L BLCA 1 33138099 33138099 + Missense_Mutation SNP G G A TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr1:33138099G>A c.1015G>A c.(1015-1017)Gat>Aat p.D339N BLCA 1 33138292 33138292 + Missense_Mutation SNP G G A TCGA-ZF-A9R7-01A-11D-A38G-08 TCGA-ZF-A9R7-10A-01D-A38J-08 g.chr1:33138292G>A c.1093G>A c.(1093-1095)Gag>Aag p.E365K BLCA 1 33138430 33138430 + Silent SNP C C T TCGA-DK-A1A3-01A-11D-A13W-08 TCGA-DK-A1A3-10A-01D-A13W-08 g.chr1:33138430C>T c.1140C>T c.(1138-1140)ttC>ttT p.F380F BLCA 1 33145306 33145306 + Nonstop_Mutation SNP G G C TCGA-E5-A4TZ-01A-11D-A31L-08 TCGA-E5-A4TZ-10B-01D-A31J-08 g.chr1:33145306G>C c.1278G>C c.(1276-1278)taG>taC p.*426Y BRCA 1 33117549 33117549 + Silent SNP C C A TCGA-GM-A2DK-01A-21D-A17W-09 TCGA-GM-A2DK-10C-01D-A17W-09 g.chr1:33117549C>A c.51C>A c.(49-51)atC>atA p.I17I BRCA 1 33117549 33117549 + Silent SNP C C T TCGA-AR-A24Z-01A-11D-A167-09 TCGA-AR-A24Z-10A-01D-A167-09 g.chr1:33117549C>T c.51C>T c.(49-51)atC>atT p.I17I BRCA 1 33123070 33123070 + Silent SNP G G T TCGA-LL-A5YO-01A-21D-A28B-09 TCGA-LL-A5YO-10A-01D-A28E-09 g.chr1:33123070G>T c.207G>T c.(205-207)ggG>ggT p.G69G BRCA 1 33138484 33138484 + Silent SNP C C T TCGA-D8-A27N-01A-11D-A16D-09 TCGA-D8-A27N-10A-01D-A16D-09 g.chr1:33138484C>T c.1194C>T c.(1192-1194)atC>atT p.I398I CESC 1 33145259 33145259 + Missense_Mutation SNP G G C TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr1:33145259G>C c.1231G>C c.(1231-1233)Gat>Cat p.D411H COAD 1 33123147 33123147 + Missense_Mutation SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr1:33123147C>T c.284C>T c.(283-285)gCg>gTg p.A95V COAD 1 33138255 33138255 + Missense_Mutation SNP G G T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr1:33138255G>T c.1056G>T c.(1054-1056)gaG>gaT p.E352D COAD 1 33138398 33138398 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:33138398C>A c.1108C>A c.(1108-1110)Cat>Aat p.H370N COADREAD 1 33123108 33123108 + Missense_Mutation SNP C C A TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr1:33123108C>A c.245C>A c.(244-246)gCc>gAc p.A82D COADREAD 1 33123147 33123147 + Missense_Mutation SNP C C T TCGA-G4-6309-01A-21D-1835-10 TCGA-G4-6309-10A-01D-1835-10 g.chr1:33123147C>T c.284C>T c.(283-285)gCg>gTg p.A95V COADREAD 1 33138255 33138255 + Missense_Mutation SNP G G T TCGA-G4-6586-01A-11D-1771-10 TCGA-G4-6586-10A-01D-1771-10 g.chr1:33138255G>T c.1056G>T c.(1054-1056)gaG>gaT p.E352D COADREAD 1 33138398 33138398 + Missense_Mutation SNP C C A TCGA-AZ-4315-01A-01D-1408-10 TCGA-AZ-4315-10A-01D-1408-10 g.chr1:33138398C>A c.1108C>A c.(1108-1110)Cat>Aat p.H370N DLBC 1 33134865 33134865 + Silent SNP A A C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr1:33134865A>C c.795A>C c.(793-795)ccA>ccC p.P265P ESCA 1 33134598 33134598 + Missense_Mutation SNP C C T TCGA-L5-A8NM-01A-11D-A37C-09 TCGA-L5-A8NM-11A-12D-A37F-09 g.chr1:33134598C>T c.626C>T c.(625-627)gCc>gTc p.A209V ESCA 1 33138069 33138069 + Missense_Mutation SNP A A T TCGA-LN-A49W-01A-11D-A27G-09 TCGA-LN-A49W-10A-01D-A27G-09 g.chr1:33138069A>T c.985A>T c.(985-987)Aat>Tat p.N329Y GBM 1 33134833 33134833 + Splice_Site SNP T T G TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 g.chr1:33134833T>G c.763T>G c.(763-765)Tgg>Ggg p.W255G GBMLGG 1 33133834 33133834 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:33133834G>T c.319G>T c.(319-321)Ggt>Tgt p.G107C GBMLGG 1 33134833 33134833 + Splice_Site SNP T T G TCGA-06-0168-01A-01D-1491-08 TCGA-06-0168-10A-01D-1491-08 g.chr1:33134833T>G c.763T>G c.(763-765)Tgg>Ggg p.W255G GBMLGG 1 33145306 33145306 + Nonstop_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:33145306G>T c.1278G>T c.(1276-1278)taG>taT p.*426Y HNSC 1 33134662 33134664 + In_Frame_Del DEL AGA AGA - TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 g.chr1:33134662_33134664delAGA c.690_692delAGA c.(688-693)gtagaa>gta p.E231del HNSC 1 33138283 33138283 + Missense_Mutation SNP G G A TCGA-CQ-A4C9-01A-11D-A25D-08 TCGA-CQ-A4C9-10A-01D-A25E-08 g.chr1:33138283G>A c.1084G>A c.(1084-1086)Ggg>Agg p.G362R HNSC 1 33145259 33145259 + Missense_Mutation SNP G G A TCGA-CN-A49A-01A-11D-A24D-08 TCGA-CN-A49A-10A-01D-A24F-08 g.chr1:33145259G>A c.1231G>A c.(1231-1233)Gat>Aat p.D411N KIPAN 1 33138433 33138433 + Silent SNP C C T TCGA-A3-3331-01A-01W-0886-08 TCGA-A3-3331-11A-01W-0886-08 g.chr1:33138433C>T c.1143C>T c.(1141-1143)tcC>tcT p.S381S KIRC 1 33138433 33138433 + Silent SNP C C T TCGA-A3-3331-01A-01W-0886-08 TCGA-A3-3331-11A-01W-0886-08 g.chr1:33138433C>T c.1143C>T c.(1141-1143)tcC>tcT p.S381S LAML 1 33138072 33138072 + Missense_Mutation SNP G G A TCGA-AB-2919-03A-01W-0745-08 TCGA-AB-2919-11A-01W-0745-08 g.chr1:33138072G>A c.988G>A c.(988-990)Gag>Aag p.E330K LAML 1 33138072 33138072 + Missense_Mutation SNP G G A TCGA-AB-2926-03A-01W-0732-08 TCGA-AB-2926-11A-01W-0761-09 g.chr1:33138072G>A c.988G>A c.(988-990)Gag>Aag p.E330K LGG 1 33133834 33133834 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:33133834G>T c.319G>T c.(319-321)Ggt>Tgt p.G107C LGG 1 33145306 33145306 + Nonstop_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr1:33145306G>T c.1278G>T c.(1276-1278)taG>taT p.*426Y LIHC 1 33134435 33134435 + Missense_Mutation SNP C C T TCGA-DD-AAVR-01A-11D-A40R-10 TCGA-DD-AAVR-10A-01D-A40U-10 g.chr1:33134435C>T c.580C>T c.(580-582)Ctt>Ttt p.L194F LIHC 1 33145241 33145241 + Splice_Site SNP G G A TCGA-DD-AACS-01A-11D-A40R-10 TCGA-DD-AACS-10A-01D-A40U-10 g.chr1:33145241G>A c.1213G>A c.(1213-1215)Gca>Aca p.A405T LIHC 1 33145248 33145248 + Missense_Mutation SNP A A T TCGA-DD-AACS-01A-11D-A40R-10 TCGA-DD-AACS-10A-01D-A40U-10 g.chr1:33145248A>T c.1220A>T c.(1219-1221)aAc>aTc p.N407I LUAD 1 33133872 33133872 + Silent SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chr1:33133872C>A c.357C>A c.(355-357)atC>atA p.I119I LUAD 1 33138267 33138267 + Silent SNP A A G TCGA-MP-A4T2-01A-11D-A24P-08 TCGA-MP-A4T2-10A-01D-A24P-08 g.chr1:33138267A>G c.1068A>G c.(1066-1068)ccA>ccG p.P356P LUSC 1 33134917 33134917 + Missense_Mutation SNP C C T TCGA-18-3409-01A-01D-0983-08 TCGA-18-3409-11A-01D-0983-08 g.chr1:33134917C>T c.847C>T c.(847-849)Cct>Tct p.P283S OV 1 33123108 33123108 + Missense_Mutation SNP C C A TCGA-04-1362-01A-01W-0494-09 TCGA-04-1362-10A-01W-0494-09 g.chr1:33123108C>A c.245C>A c.(244-246)gCc>gAc p.A82D PRAD 1 33123147 33123147 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr1:33123147C>T c.284C>T c.(283-285)gCg>gTg p.A95V READ 1 33123108 33123108 + Missense_Mutation SNP C C A TCGA-AF-2693-01A-02D-1733-10 TCGA-AF-2693-10A-01D-1733-10 g.chr1:33123108C>A c.245C>A c.(244-246)gCc>gAc p.A82D SKCM 1 33134452 33134452 + Silent SNP C C T TCGA-EE-A2MR-06A-11D-A196-08 TCGA-EE-A2MR-10A-01D-A198-08 g.chr1:33134452C>T c.597C>T c.(595-597)gaC>gaT p.D199D SKCM 1 33134686 33134686 + Silent SNP C C T TCGA-EE-A2MJ-06A-11D-A197-08 TCGA-EE-A2MJ-10A-01D-A199-08 g.chr1:33134686C>T c.714C>T c.(712-714)ctC>ctT p.L238L SKCM 1 33135134 33135134 + Silent SNP C C T TCGA-EE-A29D-06A-11D-A197-08 TCGA-EE-A29D-10A-01D-A199-08 g.chr1:33135134C>T c.936C>T c.(934-936)tcC>tcT p.S312S SKCM 1 33138102 33138102 + Missense_Mutation SNP C C T TCGA-EE-A2MK-06A-11D-A196-08 TCGA-EE-A2MK-10A-01D-A198-08 g.chr1:33138102C>T c.1018C>T c.(1018-1020)Cgc>Tgc p.R340C SKCM 1 33138435 33138435 + Nonsense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr1:33138435G>A c.1145G>A c.(1144-1146)tGg>tAg p.W382* SKCM 1 33138492 33138492 + Missense_Mutation SNP T T C TCGA-EE-A2MC-06A-12D-A197-08 TCGA-EE-A2MC-10A-01D-A199-08 g.chr1:33138492T>C c.1202T>C c.(1201-1203)gTg>gCg p.V401A

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 1 33134689 33134689 single base substitution T C 3_prime_UTR_variant BLCA-US 1 33134689 33134689 single base substitution T C 5_prime_UTR_variant BLCA-US 1 33134689 33134689 single base substitution T C downstream_gene_variant BLCA-US 1 33134689 33134689 single base substitution T C exon_variant BLCA-US 1 33134689 33134689 single base substitution T C synonymous_variant H204H 612T>C BLCA-US 1 33134689 33134689 single base substitution T C synonymous_variant H238H 714T>C BLCA-US 1 33134689 33134689 single base substitution T C synonymous_variant H239H 717T>C BLCA-US 1 33134689 33134689 single base substitution T C synonymous_variant H41H 123T>C BLCA-US 1 33134689 33134689 single base substitution T C upstream_gene_variant BLCA-US 1 33138099 33138099 single base substitution G A 3_prime_UTR_variant BLCA-US 1 33138099 33138099 single base substitution G A downstream_gene_variant BLCA-US 1 33138099 33138099 single base substitution G A exon_variant BLCA-US 1 33138099 33138099 single base substitution G A missense_variant D141N 421G>A BLCA-US 1 33138099 33138099 single base substitution G A missense_variant D304N 910G>A BLCA-US 1 33138099 33138099 single base substitution G A missense_variant D338N 1012G>A BLCA-US 1 33138099 33138099 single base substitution G A missense_variant D339N 1015G>A BLCA-US 1 33138099 33138099 single base substitution G A missense_variant D77N 229G>A BLCA-US 1 33138099 33138099 single base substitution G A missense_variant D87N 259G>A BLCA-US 1 33138099 33138099 single base substitution G A missense_variant D98N 292G>A BLCA-US 1 33138430 33138430 single base substitution C T 3_prime_UTR_variant BLCA-US 1 33138430 33138430 single base substitution C T downstream_gene_variant BLCA-US 1 33138430 33138430 single base substitution C T exon_variant BLCA-US 1 33138430 33138430 single base substitution C T synonymous_variant F118F 354C>T BLCA-US 1 33138430 33138430 single base substitution C T synonymous_variant F128F 384C>T BLCA-US 1 33138430 33138430 single base substitution C T synonymous_variant F139F 417C>T BLCA-US 1 33138430 33138430 single base substitution C T synonymous_variant F182F 546C>T BLCA-US 1 33138430 33138430 single base substitution C T synonymous_variant F345F 1035C>T BLCA-US 1 33138430 33138430 single base substitution C T synonymous_variant F379F 1137C>T BLCA-US 1 33138430 33138430 single base substitution C T synonymous_variant F380F 1140C>T BLCA-US 1 33149906 33149906 single base substitution C G 3_prime_UTR_variant BLCA-US 1 33149906 33149906 single base substitution C G downstream_gene_variant BLCA-US 1 33149943 33149943 deletion of <=200bp C - 3_prime_UTR_variant BLCA-US 1 33149943 33149943 deletion of <=200bp C - downstream_gene_variant BRCA-EU 1 33111998 33111998 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 33112343 33112343 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 33112600 33112600 single base substitution G A upstream_gene_variant BRCA-EU 1 33113534 33113534 single base substitution C T upstream_gene_variant BRCA-EU 1 33113608 33113608 single base substitution C T upstream_gene_variant BRCA-EU 1 33114269 33114269 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 33115795 33115795 single base substitution T A upstream_gene_variant BRCA-EU 1 33116484 33116484 single base substitution C G upstream_gene_variant BRCA-EU 1 33117119 33117119 single base substitution G T 5_prime_UTR_variant BRCA-EU 1 33117119 33117119 single base substitution G T intron_variant BRCA-EU 1 33117376 33117376 single base substitution G C 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 1 33117376 33117376 single base substitution G C intron_variant BRCA-EU 1 33117468 33117468 single base substitution C T intron_variant BRCA-EU 1 33117967 33117967 single base substitution T A exon_variant BRCA-EU 1 33117967 33117967 single base substitution T A intron_variant BRCA-EU 1 33118752 33118752 single base substitution G A downstream_gene_variant BRCA-EU 1 33118752 33118752 single base substitution G A intron_variant BRCA-EU 1 33122872 33122872 single base substitution A G downstream_gene_variant BRCA-EU 1 33122872 33122872 single base substitution A G intron_variant BRCA-EU 1 33127165 33127165 single base substitution G A downstream_gene_variant BRCA-EU 1 33127165 33127165 single base substitution G A intron_variant BRCA-EU 1 33127555 33127555 single base substitution C T downstream_gene_variant BRCA-EU 1 33127555 33127555 single base substitution C T intron_variant BRCA-EU 1 33128512 33128512 single base substitution G A intron_variant BRCA-EU 1 33129247 33129247 single base substitution C T intron_variant BRCA-EU 1 33129247 33129247 single base substitution C T upstream_gene_variant BRCA-EU 1 33129951 33129951 single base substitution G A intron_variant BRCA-EU 1 33129951 33129951 single base substitution G A upstream_gene_variant BRCA-EU 1 33130040 33130040 single base substitution T C intron_variant BRCA-EU 1 33130040 33130040 single base substitution T C upstream_gene_variant BRCA-EU 1 33130807 33130807 single base substitution G T intron_variant BRCA-EU 1 33130807 33130807 single base substitution G T upstream_gene_variant BRCA-EU 1 33131198 33131198 single base substitution G C intron_variant BRCA-EU 1 33131198 33131198 single base substitution G C upstream_gene_variant BRCA-EU 1 33133348 33133348 single base substitution G T intron_variant BRCA-EU 1 33133348 33133348 single base substitution G T upstream_gene_variant BRCA-EU 1 33133737 33133737 deletion of <=200bp A - intron_variant BRCA-EU 1 33133737 33133737 deletion of <=200bp A - upstream_gene_variant BRCA-EU 1 33134030 33134030 single base substitution G A downstream_gene_variant BRCA-EU 1 33134030 33134030 single base substitution G A exon_variant BRCA-EU 1 33134030 33134030 single base substitution G A intron_variant BRCA-EU 1 33134030 33134030 single base substitution G A upstream_gene_variant BRCA-EU 1 33134133 33134133 single base substitution C T downstream_gene_variant BRCA-EU 1 33134133 33134133 single base substitution C T exon_variant BRCA-EU 1 33134133 33134133 single base substitution C T intron_variant BRCA-EU 1 33134133 33134133 single base substitution C T upstream_gene_variant BRCA-EU 1 33134163 33134163 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 33134163 33134163 deletion of <=200bp T - exon_variant BRCA-EU 1 33134163 33134163 deletion of <=200bp T - intron_variant BRCA-EU 1 33134163 33134163 deletion of <=200bp T - upstream_gene_variant BRCA-EU 1 33134663 33134663 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 33134663 33134663 single base substitution G A 5_prime_UTR_variant BRCA-EU 1 33134663 33134663 single base substitution G A downstream_gene_variant BRCA-EU 1 33134663 33134663 single base substitution G A exon_variant BRCA-EU 1 33134663 33134663 single base substitution G A missense_variant E196K 586G>A BRCA-EU 1 33134663 33134663 single base substitution G A missense_variant E230K 688G>A BRCA-EU 1 33134663 33134663 single base substitution G A missense_variant E231K 691G>A BRCA-EU 1 33134663 33134663 single base substitution G A missense_variant E33K 97G>A BRCA-EU 1 33134663 33134663 single base substitution G A upstream_gene_variant BRCA-EU 1 33135918 33135918 single base substitution C G downstream_gene_variant BRCA-EU 1 33135918 33135918 single base substitution C G intron_variant BRCA-EU 1 33139187 33139187 single base substitution T C downstream_gene_variant BRCA-EU 1 33139187 33139187 single base substitution T C intron_variant BRCA-EU 1 33139187 33139187 single base substitution T C splice_region_variant BRCA-EU 1 33142342 33142342 single base substitution A G downstream_gene_variant BRCA-EU 1 33142342 33142342 single base substitution A G intron_variant BRCA-EU 1 33142433 33142433 single base substitution C T downstream_gene_variant BRCA-EU 1 33142433 33142433 single base substitution C T intron_variant BRCA-EU 1 33142904 33142904 single base substitution G C downstream_gene_variant BRCA-EU 1 33142904 33142904 single base substitution G C intron_variant BRCA-EU 1 33143856 33143856 single base substitution G A intron_variant BRCA-EU 1 33143972 33143972 single base substitution C T intron_variant BRCA-EU 1 33144000 33144000 single base substitution A G intron_variant BRCA-EU 1 33144670 33144670 single base substitution G A intron_variant BRCA-EU 1 33145447 33145447 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 33145447 33145447 single base substitution C T intron_variant BRCA-EU 1 33145749 33145749 single base substitution T A 3_prime_UTR_variant BRCA-EU 1 33145749 33145749 single base substitution T A downstream_gene_variant BRCA-EU 1 33145749 33145749 single base substitution T A intron_variant BRCA-EU 1 33147043 33147043 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 33147043 33147043 single base substitution G A downstream_gene_variant BRCA-EU 1 33147202 33147202 single base substitution T G 3_prime_UTR_variant BRCA-EU 1 33147202 33147202 single base substitution T G downstream_gene_variant BRCA-EU 1 33148370 33148370 insertion of <=200bp - T 3_prime_UTR_variant BRCA-EU 1 33148370 33148370 insertion of <=200bp - T downstream_gene_variant BRCA-EU 1 33149396 33149396 single base substitution G T 3_prime_UTR_variant BRCA-EU 1 33149396 33149396 single base substitution G T downstream_gene_variant BRCA-EU 1 33149597 33149597 insertion of <=200bp - TT 3_prime_UTR_variant BRCA-EU 1 33149597 33149597 insertion of <=200bp - TT downstream_gene_variant BRCA-EU 1 33151031 33151031 single base substitution A G 3_prime_UTR_variant BRCA-EU 1 33151031 33151031 single base substitution A G downstream_gene_variant BRCA-EU 1 33152454 33152454 single base substitution C T downstream_gene_variant BRCA-EU 1 33153786 33153786 single base substitution G A downstream_gene_variant BRCA-EU 1 33154404 33154404 single base substitution G T downstream_gene_variant BRCA-EU 1 33154915 33154915 single base substitution T A downstream_gene_variant BRCA-EU 1 33156269 33156269 single base substitution G C downstream_gene_variant BRCA-EU 1 33156464 33156464 single base substitution G C downstream_gene_variant BRCA-FR 1 33113534 33113534 single base substitution C T upstream_gene_variant BRCA-FR 1 33113608 33113608 single base substitution C T upstream_gene_variant BRCA-FR 1 33125214 33125214 single base substitution A T downstream_gene_variant BRCA-FR 1 33125214 33125214 single base substitution A T intron_variant BRCA-FR 1 33142342 33142342 single base substitution A G downstream_gene_variant BRCA-FR 1 33142342 33142342 single base substitution A G intron_variant BRCA-FR 1 33142904 33142904 single base substitution G C downstream_gene_variant BRCA-FR 1 33142904 33142904 single base substitution G C intron_variant BRCA-FR 1 33143972 33143972 single base substitution C T intron_variant BRCA-FR 1 33145482 33145482 single base substitution G C 3_prime_UTR_variant BRCA-FR 1 33145482 33145482 single base substitution G C intron_variant BRCA-FR 1 33156464 33156464 single base substitution G C downstream_gene_variant BRCA-KR 1 33134471 33134471 single base substitution A G downstream_gene_variant BRCA-KR 1 33134471 33134471 single base substitution A G intron_variant BRCA-KR 1 33134471 33134471 single base substitution A G upstream_gene_variant BRCA-UK 1 33116703 33116703 single base substitution G C upstream_gene_variant BRCA-UK 1 33117119 33117119 single base substitution G A 5_prime_UTR_variant BRCA-UK 1 33117119 33117119 single base substitution G A intron_variant BRCA-UK 1 33125756 33125756 single base substitution C T downstream_gene_variant BRCA-UK 1 33125756 33125756 single base substitution C T intron_variant BRCA-UK 1 33147043 33147043 single base substitution G A 3_prime_UTR_variant BRCA-UK 1 33147043 33147043 single base substitution G A downstream_gene_variant BRCA-US 1 33116131 33116131 single base substitution G A upstream_gene_variant BRCA-US 1 33116282 33116282 single base substitution A C upstream_gene_variant BRCA-US 1 33116821 33116821 single base substitution G A 5_prime_UTR_variant BRCA-US 1 33116821 33116821 single base substitution G A exon_variant BRCA-US 1 33116821 33116821 single base substitution G A upstream_gene_variant BRCA-US 1 33117549 33117549 single base substitution C A 5_prime_UTR_variant BRCA-US 1 33117549 33117549 single base substitution C A exon_variant BRCA-US 1 33117549 33117549 single base substitution C A synonymous_variant I16I 48C>A BRCA-US 1 33117549 33117549 single base substitution C A synonymous_variant I17I 51C>A BRCA-US 1 33117549 33117549 single base substitution C T 5_prime_UTR_variant BRCA-US 1 33117549 33117549 single base substitution C T exon_variant BRCA-US 1 33117549 33117549 single base substitution C T synonymous_variant I16I 48C>T BRCA-US 1 33117549 33117549 single base substitution C T synonymous_variant I17I 51C>T BRCA-US 1 33123070 33123070 single base substitution G T downstream_gene_variant BRCA-US 1 33123070 33123070 single base substitution G T exon_variant BRCA-US 1 33123070 33123070 single base substitution G T intron_variant BRCA-US 1 33123070 33123070 single base substitution G T synonymous_variant G34G 102G>T BRCA-US 1 33123070 33123070 single base substitution G T synonymous_variant G68G 204G>T BRCA-US 1 33123070 33123070 single base substitution G T synonymous_variant G69G 207G>T BRCA-US 1 33138484 33138484 single base substitution C T 3_prime_UTR_variant BRCA-US 1 33138484 33138484 single base substitution C T downstream_gene_variant BRCA-US 1 33138484 33138484 single base substitution C T exon_variant BRCA-US 1 33138484 33138484 single base substitution C T synonymous_variant I136I 408C>T BRCA-US 1 33138484 33138484 single base substitution C T synonymous_variant I146I 438C>T BRCA-US 1 33138484 33138484 single base substitution C T synonymous_variant I157I 471C>T BRCA-US 1 33138484 33138484 single base substitution C T synonymous_variant I200I 600C>T BRCA-US 1 33138484 33138484 single base substitution C T synonymous_variant I363I 1089C>T BRCA-US 1 33138484 33138484 single base substitution C T synonymous_variant I397I 1191C>T BRCA-US 1 33138484 33138484 single base substitution C T synonymous_variant I398I 1194C>T BTCA-JP 1 33117082 33117082 single base substitution C T intron_variant BTCA-JP 1 33117082 33117082 single base substitution C T upstream_gene_variant BTCA-JP 1 33133910 33133910 single base substitution A G 3_prime_UTR_variant BTCA-JP 1 33133910 33133910 single base substitution A G downstream_gene_variant BTCA-JP 1 33133910 33133910 single base substitution A G exon_variant BTCA-JP 1 33133910 33133910 single base substitution A G intron_variant BTCA-JP 1 33133910 33133910 single base substitution A G missense_variant Y131C 392A>G BTCA-JP 1 33133910 33133910 single base substitution A G missense_variant Y132C 395A>G BTCA-JP 1 33133910 33133910 single base substitution A G missense_variant Y97C 290A>G BTCA-JP 1 33133910 33133910 single base substitution A G upstream_gene_variant CESC-US 1 33145259 33145259 single base substitution G C 3_prime_UTR_variant CESC-US 1 33145259 33145259 single base substitution G C exon_variant CESC-US 1 33145259 33145259 single base substitution G C intron_variant CESC-US 1 33145259 33145259 single base substitution G C missense_variant D159H 475G>C CESC-US 1 33145259 33145259 single base substitution G C missense_variant D376H 1126G>C CESC-US 1 33145259 33145259 single base substitution G C missense_variant D410H 1228G>C CESC-US 1 33145259 33145259 single base substitution G C missense_variant D411H 1231G>C CESC-US 1 33145259 33145259 single base substitution G C missense_variant M150I 450G>C CESC-US 1 33145259 33145259 single base substitution G C missense_variant M210I 630G>C CESC-US 1 33147407 33147407 single base substitution G A 3_prime_UTR_variant CESC-US 1 33147407 33147407 single base substitution G A downstream_gene_variant CLLE-ES 1 33117495 33117496 deletion of <=200bp TT - intron_variant CLLE-ES 1 33124440 33124440 single base substitution T A downstream_gene_variant CLLE-ES 1 33124440 33124440 single base substitution T A intron_variant COAD-US 1 33123147 33123147 single base substitution C T exon_variant COAD-US 1 33123147 33123147 single base substitution C T intron_variant COAD-US 1 33123147 33123147 single base substitution C T missense_variant A60V 179C>T COAD-US 1 33123147 33123147 single base substitution C T missense_variant A94V 281C>T COAD-US 1 33123147 33123147 single base substitution C T missense_variant A95V 284C>T COAD-US 1 33138255 33138255 single base substitution G T 3_prime_UTR_variant COAD-US 1 33138255 33138255 single base substitution G T downstream_gene_variant COAD-US 1 33138255 33138255 single base substitution G T exon_variant COAD-US 1 33138255 33138255 single base substitution G T missense_variant E100D 300G>T COAD-US 1 33138255 33138255 single base substitution G T missense_variant E111D 333G>T COAD-US 1 33138255 33138255 single base substitution G T missense_variant E154D 462G>T COAD-US 1 33138255 33138255 single base substitution G T missense_variant E317D 951G>T COAD-US 1 33138255 33138255 single base substitution G T missense_variant E351D 1053G>T COAD-US 1 33138255 33138255 single base substitution G T missense_variant E352D 1056G>T COAD-US 1 33138255 33138255 single base substitution G T missense_variant E90D 270G>T COAD-US 1 33138398 33138398 single base substitution C A 3_prime_UTR_variant COAD-US 1 33138398 33138398 single base substitution C A downstream_gene_variant COAD-US 1 33138398 33138398 single base substitution C A exon_variant COAD-US 1 33138398 33138398 single base substitution C A missense_variant H108N 322C>A COAD-US 1 33138398 33138398 single base substitution C A missense_variant H118N 352C>A COAD-US 1 33138398 33138398 single base substitution C A missense_variant H129N 385C>A COAD-US 1 33138398 33138398 single base substitution C A missense_variant H172N 514C>A COAD-US 1 33138398 33138398 single base substitution C A missense_variant H335N 1003C>A COAD-US 1 33138398 33138398 single base substitution C A missense_variant H369N 1105C>A COAD-US 1 33138398 33138398 single base substitution C A missense_variant H370N 1108C>A COCA-CN 1 33133872 33133872 single base substitution C A 3_prime_UTR_variant COCA-CN 1 33133872 33133872 single base substitution C A exon_variant COCA-CN 1 33133872 33133872 single base substitution C A intron_variant COCA-CN 1 33133872 33133872 single base substitution C A synonymous_variant I118I 354C>A COCA-CN 1 33133872 33133872 single base substitution C A synonymous_variant I119I 357C>A COCA-CN 1 33133872 33133872 single base substitution C A synonymous_variant I84I 252C>A COCA-CN 1 33133872 33133872 single base substitution C A upstream_gene_variant COCA-CN 1 33133906 33133906 single base substitution C T 3_prime_UTR_variant COCA-CN 1 33133906 33133906 single base substitution C T downstream_gene_variant COCA-CN 1 33133906 33133906 single base substitution C T exon_variant COCA-CN 1 33133906 33133906 single base substitution C T intron_variant COCA-CN 1 33133906 33133906 single base substitution C T missense_variant R130C 388C>T COCA-CN 1 33133906 33133906 single base substitution C T missense_variant R131C 391C>T COCA-CN 1 33133906 33133906 single base substitution C T missense_variant R96C 286C>T COCA-CN 1 33133906 33133906 single base substitution C T upstream_gene_variant COCA-CN 1 33134989 33134989 single base substitution A G downstream_gene_variant COCA-CN 1 33134989 33134989 single base substitution A G intron_variant COCA-CN 1 33145327 33145327 single base substitution A G 3_prime_UTR_variant COCA-CN 1 33145327 33145327 single base substitution A G intron_variant COCA-CN 1 33145327 33145327 single base substitution A G missense_variant D233G 698A>G COCA-CN 1 33147538 33147538 single base substitution T G 3_prime_UTR_variant COCA-CN 1 33147538 33147538 single base substitution T G downstream_gene_variant EOPC-DE 1 33130448 33130448 single base substitution C T intron_variant EOPC-DE 1 33130448 33130448 single base substitution C T upstream_gene_variant ESAD-UK 1 33115727 33115727 single base substitution A C upstream_gene_variant ESAD-UK 1 33121374 33121374 single base substitution C T downstream_gene_variant ESAD-UK 1 33121374 33121374 single base substitution C T intron_variant ESAD-UK 1 33127355 33127358 deletion of <=200bp ATCT - downstream_gene_variant ESAD-UK 1 33127355 33127358 deletion of <=200bp ATCT - intron_variant ESAD-UK 1 33127401 33127401 single base substitution T C downstream_gene_variant ESAD-UK 1 33127401 33127401 single base substitution T C intron_variant ESAD-UK 1 33127412 33127412 single base substitution T C downstream_gene_variant ESAD-UK 1 33127412 33127412 single base substitution T C intron_variant ESAD-UK 1 33127710 33127710 single base substitution C A downstream_gene_variant ESAD-UK 1 33127710 33127710 single base substitution C A intron_variant ESAD-UK 1 33130711 33130711 single base substitution C T intron_variant ESAD-UK 1 33130711 33130711 single base substitution C T upstream_gene_variant ESAD-UK 1 33133761 33133761 single base substitution T G intron_variant ESAD-UK 1 33133761 33133761 single base substitution T G upstream_gene_variant ESAD-UK 1 33136127 33136127 single base substitution C T downstream_gene_variant ESAD-UK 1 33136127 33136127 single base substitution C T intron_variant ESAD-UK 1 33136409 33136409 single base substitution A G downstream_gene_variant ESAD-UK 1 33136409 33136409 single base substitution A G intron_variant ESAD-UK 1 33139045 33139045 single base substitution T C downstream_gene_variant ESAD-UK 1 33139045 33139045 single base substitution T C intron_variant ESAD-UK 1 33140357 33140357 single base substitution C T downstream_gene_variant ESAD-UK 1 33140357 33140357 single base substitution C T intron_variant ESAD-UK 1 33141394 33141394 single base substitution A T downstream_gene_variant ESAD-UK 1 33141394 33141394 single base substitution A T intron_variant ESAD-UK 1 33143101 33143101 single base substitution A G downstream_gene_variant ESAD-UK 1 33143101 33143101 single base substitution A G intron_variant ESAD-UK 1 33144808 33144808 single base substitution G T intron_variant ESAD-UK 1 33145473 33145473 deletion of <=200bp G - 3_prime_UTR_variant ESAD-UK 1 33145473 33145473 deletion of <=200bp G - intron_variant ESAD-UK 1 33146330 33146330 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 33146330 33146330 single base substitution G A downstream_gene_variant ESAD-UK 1 33147799 33147799 single base substitution G T 3_prime_UTR_variant ESAD-UK 1 33147799 33147799 single base substitution G T downstream_gene_variant ESAD-UK 1 33147984 33147984 single base substitution A C 3_prime_UTR_variant ESAD-UK 1 33147984 33147984 single base substitution A C downstream_gene_variant ESAD-UK 1 33150177 33150177 single base substitution A G 3_prime_UTR_variant ESAD-UK 1 33150177 33150177 single base substitution A G downstream_gene_variant ESAD-UK 1 33150650 33150650 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 33150650 33150650 single base substitution G A downstream_gene_variant ESAD-UK 1 33154048 33154048 single base substitution A C downstream_gene_variant ESAD-UK 1 33155562 33155565 deletion of <=200bp AGTT - downstream_gene_variant ESAD-UK 1 33156101 33156101 single base substitution C A downstream_gene_variant ESAD-UK 1 33156140 33156140 single base substitution G A downstream_gene_variant ESAD-UK 1 33156675 33156675 single base substitution C A downstream_gene_variant KIRC-US 1 33149611 33149611 single base substitution C T 3_prime_UTR_variant KIRC-US 1 33149611 33149611 single base substitution C T downstream_gene_variant LAML-KR 1 33119247 33119247 single base substitution T G downstream_gene_variant LAML-KR 1 33119247 33119247 single base substitution T G intron_variant LAML-KR 1 33129196 33129196 single base substitution G T intron_variant LAML-KR 1 33129196 33129196 single base substitution G T upstream_gene_variant LAML-KR 1 33129334 33129334 single base substitution T C intron_variant LAML-KR 1 33129334 33129334 single base substitution T C upstream_gene_variant LICA-CN 1 33116102 33116102 single base substitution T A upstream_gene_variant LICA-FR 1 33123041 33123041 single base substitution G C downstream_gene_variant LICA-FR 1 33123041 33123041 single base substitution G C exon_variant LICA-FR 1 33123041 33123041 single base substitution G C intron_variant LICA-FR 1 33123041 33123041 single base substitution G C missense_variant D25H 73G>C LICA-FR 1 33123041 33123041 single base substitution G C missense_variant D59H 175G>C LICA-FR 1 33123041 33123041 single base substitution G C missense_variant D60H 178G>C LICA-FR 1 33137589 33137589 insertion of <=200bp - T downstream_gene_variant LICA-FR 1 33137589 33137589 insertion of <=200bp - T intron_variant LICA-FR 1 33148723 33148723 single base substitution A G 3_prime_UTR_variant LICA-FR 1 33148723 33148723 single base substitution A G downstream_gene_variant LINC-JP 1 33117083 33117083 single base substitution G C intron_variant LINC-JP 1 33117083 33117083 single base substitution G C upstream_gene_variant LINC-JP 1 33118268 33118268 single base substitution A G downstream_gene_variant LINC-JP 1 33118268 33118268 single base substitution A G intron_variant LINC-JP 1 33123084 33123084 single base substitution A G downstream_gene_variant LINC-JP 1 33123084 33123084 single base substitution A G exon_variant LINC-JP 1 33123084 33123084 single base substitution A G intron_variant LINC-JP 1 33123084 33123084 single base substitution A G missense_variant D39G 116A>G LINC-JP 1 33123084 33123084 single base substitution A G missense_variant D73G 218A>G LINC-JP 1 33123084 33123084 single base substitution A G missense_variant D74G 221A>G LINC-JP 1 33133996 33133996 single base substitution C G 3_prime_UTR_variant LINC-JP 1 33133996 33133996 single base substitution C G downstream_gene_variant LINC-JP 1 33133996 33133996 single base substitution C G exon_variant LINC-JP 1 33133996 33133996 single base substitution C G intron_variant LINC-JP 1 33133996 33133996 single base substitution C G missense_variant P126A 376C>G LINC-JP 1 33133996 33133996 single base substitution C G missense_variant P160A 478C>G LINC-JP 1 33133996 33133996 single base substitution C G missense_variant P161A 481C>G LINC-JP 1 33133996 33133996 single base substitution C G missense_variant P26A 76C>G LINC-JP 1 33133996 33133996 single base substitution C G upstream_gene_variant LINC-JP 1 33134493 33134500 deletion of <=200bp GTTACCAG - downstream_gene_variant LINC-JP 1 33134493 33134500 deletion of <=200bp GTTACCAG - intron_variant LINC-JP 1 33134493 33134500 deletion of <=200bp GTTACCAG - upstream_gene_variant LINC-JP 1 33134815 33134815 insertion of <=200bp - T downstream_gene_variant LINC-JP 1 33134815 33134815 insertion of <=200bp - T intron_variant LINC-JP 1 33134815 33134815 insertion of <=200bp - T upstream_gene_variant LINC-JP 1 33140157 33140157 single base substitution C T downstream_gene_variant LINC-JP 1 33140157 33140157 single base substitution C T intron_variant LINC-JP 1 33151761 33151761 single base substitution G T 3_prime_UTR_variant LIRI-JP 1 33112164 33112164 single base substitution T C upstream_gene_variant LIRI-JP 1 33113482 33113482 single base substitution T C upstream_gene_variant LIRI-JP 1 33115423 33115423 single base substitution G A upstream_gene_variant LIRI-JP 1 33117229 33117229 single base substitution C A 5_prime_UTR_variant LIRI-JP 1 33117229 33117229 single base substitution C A intron_variant LIRI-JP 1 33118290 33118290 single base substitution C G downstream_gene_variant LIRI-JP 1 33118290 33118290 single base substitution C G intron_variant LIRI-JP 1 33120985 33120985 single base substitution C T downstream_gene_variant LIRI-JP 1 33120985 33120985 single base substitution C T intron_variant LIRI-JP 1 33121460 33121460 single base substitution G T downstream_gene_variant LIRI-JP 1 33121460 33121460 single base substitution G T intron_variant LIRI-JP 1 33121957 33121957 single base substitution T G downstream_gene_variant LIRI-JP 1 33121957 33121957 single base substitution T G intron_variant LIRI-JP 1 33122031 33122031 single base substitution G A downstream_gene_variant LIRI-JP 1 33122031 33122031 single base substitution G A intron_variant LIRI-JP 1 33122708 33122708 single base substitution C T downstream_gene_variant LIRI-JP 1 33122708 33122708 single base substitution C T intron_variant LIRI-JP 1 33124789 33124789 single base substitution A G downstream_gene_variant LIRI-JP 1 33124789 33124789 single base substitution A G intron_variant LIRI-JP 1 33126053 33126053 single base substitution T A downstream_gene_variant LIRI-JP 1 33126053 33126053 single base substitution T A intron_variant LIRI-JP 1 33129320 33129320 single base substitution G T intron_variant LIRI-JP 1 33129320 33129320 single base substitution G T upstream_gene_variant LIRI-JP 1 33134536 33134536 single base substitution A G downstream_gene_variant LIRI-JP 1 33134536 33134536 single base substitution A G intron_variant LIRI-JP 1 33134536 33134536 single base substitution A G upstream_gene_variant LIRI-JP 1 33134792 33134792 single base substitution C A downstream_gene_variant LIRI-JP 1 33134792 33134792 single base substitution C A intron_variant LIRI-JP 1 33134792 33134792 single base substitution C A upstream_gene_variant LIRI-JP 1 33135482 33135482 single base substitution A G downstream_gene_variant LIRI-JP 1 33135482 33135482 single base substitution A G intron_variant LIRI-JP 1 33137223 33137223 single base substitution G T downstream_gene_variant LIRI-JP 1 33137223 33137223 single base substitution G T intron_variant LIRI-JP 1 33141973 33141973 single base substitution A T downstream_gene_variant LIRI-JP 1 33141973 33141973 single base substitution A T intron_variant LIRI-JP 1 33146378 33146378 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 33146378 33146378 single base substitution T C downstream_gene_variant LIRI-JP 1 33146676 33146676 single base substitution C A 3_prime_UTR_variant LIRI-JP 1 33146676 33146676 single base substitution C A downstream_gene_variant LIRI-JP 1 33146710 33146710 single base substitution C T 3_prime_UTR_variant LIRI-JP 1 33146710 33146710 single base substitution C T downstream_gene_variant LIRI-JP 1 33148082 33148091 deletion of <=200bp GTTACTTGTG - 3_prime_UTR_variant LIRI-JP 1 33148082 33148091 deletion of <=200bp GTTACTTGTG - downstream_gene_variant LIRI-JP 1 33148618 33148618 single base substitution C T 3_prime_UTR_variant LIRI-JP 1 33148618 33148618 single base substitution C T downstream_gene_variant LIRI-JP 1 33149363 33149363 single base substitution A T 3_prime_UTR_variant LIRI-JP 1 33149363 33149363 single base substitution A T downstream_gene_variant LIRI-JP 1 33149867 33149868 deletion of <=200bp AG - 3_prime_UTR_variant LIRI-JP 1 33149867 33149868 deletion of <=200bp AG - downstream_gene_variant LIRI-JP 1 33151592 33151592 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 33152616 33152616 single base substitution G A downstream_gene_variant LUSC-KR 1 33117119 33117119 single base substitution G A 5_prime_UTR_variant LUSC-KR 1 33117119 33117119 single base substitution G A intron_variant LUSC-KR 1 33119247 33119247 single base substitution T G downstream_gene_variant LUSC-KR 1 33119247 33119247 single base substitution T G intron_variant LUSC-KR 1 33119255 33119255 single base substitution T G downstream_gene_variant LUSC-KR 1 33119255 33119255 single base substitution T G intron_variant LUSC-KR 1 33119740 33119740 single base substitution G C downstream_gene_variant LUSC-KR 1 33119740 33119740 single base substitution G C intron_variant LUSC-KR 1 33122580 33122580 single base substitution G C downstream_gene_variant LUSC-KR 1 33122580 33122580 single base substitution G C intron_variant LUSC-KR 1 33122705 33122705 single base substitution C T downstream_gene_variant LUSC-KR 1 33122705 33122705 single base substitution C T intron_variant LUSC-KR 1 33123599 33123599 single base substitution G C downstream_gene_variant LUSC-KR 1 33123599 33123599 single base substitution G C intron_variant LUSC-KR 1 33125109 33125109 single base substitution C T downstream_gene_variant LUSC-KR 1 33125109 33125109 single base substitution C T intron_variant LUSC-KR 1 33127174 33127174 single base substitution C T downstream_gene_variant LUSC-KR 1 33127174 33127174 single base substitution C T intron_variant LUSC-KR 1 33129869 33129869 single base substitution A T intron_variant LUSC-KR 1 33129869 33129869 single base substitution A T upstream_gene_variant LUSC-KR 1 33131194 33131194 single base substitution G T intron_variant LUSC-KR 1 33131194 33131194 single base substitution G T upstream_gene_variant LUSC-KR 1 33136951 33136951 single base substitution C T downstream_gene_variant LUSC-KR 1 33136951 33136951 single base substitution C T intron_variant LUSC-KR 1 33137824 33137824 single base substitution C T downstream_gene_variant LUSC-KR 1 33137824 33137824 single base substitution C T intron_variant LUSC-KR 1 33146445 33146445 single base substitution C T 3_prime_UTR_variant LUSC-KR 1 33146445 33146445 single base substitution C T downstream_gene_variant LUSC-KR 1 33147265 33147265 single base substitution T C 3_prime_UTR_variant LUSC-KR 1 33147265 33147265 single base substitution T C downstream_gene_variant LUSC-US 1 33134917 33134917 single base substitution C T 3_prime_UTR_variant LUSC-US 1 33134917 33134917 single base substitution C T downstream_gene_variant LUSC-US 1 33134917 33134917 single base substitution C T exon_variant LUSC-US 1 33134917 33134917 single base substitution C T missense_variant P21S 61C>T LUSC-US 1 33134917 33134917 single base substitution C T missense_variant P248S 742C>T LUSC-US 1 33134917 33134917 single base substitution C T missense_variant P282S 844C>T LUSC-US 1 33134917 33134917 single base substitution C T missense_variant P283S 847C>T LUSC-US 1 33134917 33134917 single base substitution C T missense_variant P31S 91C>T LUSC-US 1 33134917 33134917 single base substitution C T missense_variant P42S 124C>T LUSC-US 1 33134917 33134917 single base substitution C T missense_variant P85S 253C>T MALY-DE 1 33111998 33111998 insertion of <=200bp - T upstream_gene_variant MALY-DE 1 33115136 33115136 single base substitution A G upstream_gene_variant MALY-DE 1 33122763 33122763 single base substitution G A downstream_gene_variant MALY-DE 1 33122763 33122763 single base substitution G A intron_variant MALY-DE 1 33127731 33127731 single base substitution A G downstream_gene_variant MALY-DE 1 33127731 33127731 single base substitution A G intron_variant MALY-DE 1 33156278 33156278 single base substitution G C downstream_gene_variant MELA-AU 1 33111765 33111765 single base substitution G A upstream_gene_variant MELA-AU 1 33111783 33111783 single base substitution G A upstream_gene_variant MELA-AU 1 33112276 33112276 single base substitution G A upstream_gene_variant MELA-AU 1 33112536 33112536 single base substitution G A upstream_gene_variant MELA-AU 1 33113122 33113122 single base substitution G A upstream_gene_variant MELA-AU 1 33114451 33114451 single base substitution G A upstream_gene_variant MELA-AU 1 33114547 33114547 single base substitution G A upstream_gene_variant MELA-AU 1 33114733 33114733 single base substitution T A upstream_gene_variant MELA-AU 1 33115621 33115621 single base substitution A G upstream_gene_variant MELA-AU 1 33116156 33116156 single base substitution C T upstream_gene_variant MELA-AU 1 33116172 33116172 single base substitution G A upstream_gene_variant MELA-AU 1 33116218 33116218 single base substitution G A upstream_gene_variant MELA-AU 1 33116312 33116312 single base substitution G A upstream_gene_variant MELA-AU 1 33116536 33116536 single base substitution C G upstream_gene_variant MELA-AU 1 33116671 33116671 single base substitution C T upstream_gene_variant MELA-AU 1 33116692 33116692 single base substitution C T upstream_gene_variant MELA-AU 1 33116745 33116745 single base substitution G A 5_prime_UTR_variant MELA-AU 1 33116745 33116745 single base substitution G A upstream_gene_variant MELA-AU 1 33116960 33116960 single base substitution T C 5_prime_UTR_variant MELA-AU 1 33116960 33116960 single base substitution T C intron_variant MELA-AU 1 33116960 33116960 single base substitution T C upstream_gene_variant MELA-AU 1 33118939 33118939 single base substitution C T downstream_gene_variant MELA-AU 1 33118939 33118939 single base substitution C T intron_variant MELA-AU 1 33120146 33120146 single base substitution C T downstream_gene_variant MELA-AU 1 33120146 33120146 single base substitution C T intron_variant MELA-AU 1 33120209 33120209 single base substitution C T downstream_gene_variant MELA-AU 1 33120209 33120209 single base substitution C T intron_variant MELA-AU 1 33120504 33120504 single base substitution C T downstream_gene_variant MELA-AU 1 33120504 33120504 single base substitution C T intron_variant MELA-AU 1 33121418 33121418 single base substitution C T downstream_gene_variant MELA-AU 1 33121418 33121418 single base substitution C T intron_variant MELA-AU 1 33122079 33122079 single base substitution G A downstream_gene_variant MELA-AU 1 33122079 33122079 single base substitution G A intron_variant MELA-AU 1 33122266 33122266 single base substitution T G downstream_gene_variant MELA-AU 1 33122266 33122266 single base substitution T G intron_variant MELA-AU 1 33122767 33122767 single base substitution C A downstream_gene_variant MELA-AU 1 33122767 33122767 single base substitution C A intron_variant MELA-AU 1 33123981 33123981 single base substitution G C downstream_gene_variant MELA-AU 1 33123981 33123981 single base substitution G C intron_variant MELA-AU 1 33124111 33124111 single base substitution C T downstream_gene_variant MELA-AU 1 33124111 33124111 single base substitution C T intron_variant MELA-AU 1 33125160 33125160 single base substitution C T downstream_gene_variant MELA-AU 1 33125160 33125160 single base substitution C T intron_variant MELA-AU 1 33125193 33125193 single base substitution C T downstream_gene_variant MELA-AU 1 33125193 33125193 single base substitution C T intron_variant MELA-AU 1 33125590 33125590 single base substitution C T downstream_gene_variant MELA-AU 1 33125590 33125590 single base substitution C T intron_variant MELA-AU 1 33125615 33125615 single base substitution C T downstream_gene_variant MELA-AU 1 33125615 33125615 single base substitution C T intron_variant MELA-AU 1 33126399 33126399 single base substitution C T downstream_gene_variant MELA-AU 1 33126399 33126399 single base substitution C T intron_variant MELA-AU 1 33127196 33127196 single base substitution G C downstream_gene_variant MELA-AU 1 33127196 33127196 single base substitution G C intron_variant MELA-AU 1 33127767 33127767 single base substitution G A downstream_gene_variant MELA-AU 1 33127767 33127767 single base substitution G A intron_variant MELA-AU 1 33127880 33127880 single base substitution C T 3_prime_UTR_variant MELA-AU 1 33127880 33127880 single base substitution C T downstream_gene_variant MELA-AU 1 33127880 33127880 single base substitution C T intron_variant MELA-AU 1 33128369 33128369 single base substitution G A intron_variant MELA-AU 1 33128468 33128468 single base substitution C T intron_variant MELA-AU 1 33130301 33130301 single base substitution C T intron_variant MELA-AU 1 33130301 33130301 single base substitution C T upstream_gene_variant MELA-AU 1 33130718 33130718 single base substitution T A intron_variant MELA-AU 1 33130718 33130718 single base substitution T A upstream_gene_variant MELA-AU 1 33131019 33131019 single base substitution C T intron_variant MELA-AU 1 33131019 33131019 single base substitution C T upstream_gene_variant MELA-AU 1 33131755 33131755 single base substitution C A intron_variant MELA-AU 1 33131755 33131755 single base substitution C A upstream_gene_variant MELA-AU 1 33132501 33132501 single base substitution C T intron_variant MELA-AU 1 33132501 33132501 single base substitution C T upstream_gene_variant MELA-AU 1 33134370 33134370 single base substitution G A 3_prime_UTR_variant MELA-AU 1 33134370 33134370 single base substitution G A 5_prime_UTR_variant MELA-AU 1 33134370 33134370 single base substitution G A downstream_gene_variant MELA-AU 1 33134370 33134370 single base substitution G A exon_variant MELA-AU 1 33134370 33134370 single base substitution G A intron_variant MELA-AU 1 33134370 33134370 single base substitution G A missense_variant R137H 410G>A MELA-AU 1 33134370 33134370 single base substitution G A missense_variant R171H 512G>A MELA-AU 1 33134370 33134370 single base substitution G A missense_variant R172H 515G>A MELA-AU 1 33134370 33134370 single base substitution G A upstream_gene_variant MELA-AU 1 33134374 33134375 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 1 33134374 33134375 multiple base substitution (>=2bp and <=200bp) CC TT 5_prime_UTR_variant MELA-AU 1 33134374 33134375 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 33134374 33134375 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 1 33134374 33134375 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 33134374 33134375 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant LR138LC MELA-AU 1 33134374 33134375 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant LR172LC MELA-AU 1 33134374 33134375 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant LR173LC MELA-AU 1 33134374 33134375 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 33134420 33134420 single base substitution C T 3_prime_UTR_variant MELA-AU 1 33134420 33134420 single base substitution C T 5_prime_UTR_variant MELA-AU 1 33134420 33134420 single base substitution C T downstream_gene_variant MELA-AU 1 33134420 33134420 single base substitution C T exon_variant MELA-AU 1 33134420 33134420 single base substitution C T intron_variant MELA-AU 1 33134420 33134420 single base substitution C T missense_variant L154F 460C>T MELA-AU 1 33134420 33134420 single base substitution C T missense_variant L188F 562C>T MELA-AU 1 33134420 33134420 single base substitution C T missense_variant L189F 565C>T MELA-AU 1 33134420 33134420 single base substitution C T upstream_gene_variant MELA-AU 1 33134541 33134541 single base substitution C T downstream_gene_variant MELA-AU 1 33134541 33134541 single base substitution C T intron_variant MELA-AU 1 33134541 33134541 single base substitution C T upstream_gene_variant MELA-AU 1 33134809 33134809 single base substitution C T downstream_gene_variant MELA-AU 1 33134809 33134809 single base substitution C T intron_variant MELA-AU 1 33134809 33134809 single base substitution C T upstream_gene_variant MELA-AU 1 33134920 33134920 single base substitution T C 3_prime_UTR_variant MELA-AU 1 33134920 33134920 single base substitution T C downstream_gene_variant MELA-AU 1 33134920 33134920 single base substitution T C exon_variant MELA-AU 1 33134920 33134920 single base substitution T C missense_variant Y22H 64T>C MELA-AU 1 33134920 33134920 single base substitution T C missense_variant Y249H 745T>C MELA-AU 1 33134920 33134920 single base substitution T C missense_variant Y283H 847T>C MELA-AU 1 33134920 33134920 single base substitution T C missense_variant Y284H 850T>C MELA-AU 1 33134920 33134920 single base substitution T C missense_variant Y32H 94T>C MELA-AU 1 33134920 33134920 single base substitution T C missense_variant Y43H 127T>C MELA-AU 1 33134920 33134920 single base substitution T C missense_variant Y86H 256T>C MELA-AU 1 33137090 33137090 single base substitution A T downstream_gene_variant MELA-AU 1 33137090 33137090 single base substitution A T intron_variant MELA-AU 1 33137697 33137697 single base substitution C T downstream_gene_variant MELA-AU 1 33137697 33137697 single base substitution C T intron_variant MELA-AU 1 33137787 33137787 single base substitution C T downstream_gene_variant MELA-AU 1 33137787 33137787 single base substitution C T intron_variant MELA-AU 1 33138102 33138102 single base substitution C T 3_prime_UTR_variant MELA-AU 1 33138102 33138102 single base substitution C T downstream_gene_variant MELA-AU 1 33138102 33138102 single base substitution C T exon_variant MELA-AU 1 33138102 33138102 single base substitution C T missense_variant R142C 424C>T MELA-AU 1 33138102 33138102 single base substitution C T missense_variant R305C 913C>T MELA-AU 1 33138102 33138102 single base substitution C T missense_variant R339C 1015C>T MELA-AU 1 33138102 33138102 single base substitution C T missense_variant R340C 1018C>T MELA-AU 1 33138102 33138102 single base substitution C T missense_variant R78C 232C>T MELA-AU 1 33138102 33138102 single base substitution C T missense_variant R88C 262C>T MELA-AU 1 33138102 33138102 single base substitution C T missense_variant R99C 295C>T MELA-AU 1 33138868 33138868 single base substitution C T downstream_gene_variant MELA-AU 1 33138868 33138868 single base substitution C T intron_variant MELA-AU 1 33138997 33138997 single base substitution C T downstream_gene_variant MELA-AU 1 33138997 33138997 single base substitution C T intron_variant MELA-AU 1 33140632 33140632 single base substitution C T downstream_gene_variant MELA-AU 1 33140632 33140632 single base substitution C T intron_variant MELA-AU 1 33141040 33141040 single base substitution C T downstream_gene_variant MELA-AU 1 33141040 33141040 single base substitution C T intron_variant MELA-AU 1 33141294 33141294 single base substitution C T downstream_gene_variant MELA-AU 1 33141294 33141294 single base substitution C T intron_variant MELA-AU 1 33143332 33143333 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 33143332 33143333 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 33143725 33143726 multiple base substitution (>=2bp and <=200bp) AC TT intron_variant MELA-AU 1 33143795 33143795 single base substitution C T intron_variant MELA-AU 1 33148035 33148035 single base substitution G A 3_prime_UTR_variant MELA-AU 1 33148035 33148035 single base substitution G A downstream_gene_variant MELA-AU 1 33148643 33148643 single base substitution G A 3_prime_UTR_variant MELA-AU 1 33148643 33148643 single base substitution G A downstream_gene_variant MELA-AU 1 33148799 33148799 single base substitution C T 3_prime_UTR_variant MELA-AU 1 33148799 33148799 single base substitution C T downstream_gene_variant MELA-AU 1 33149131 33149131 single base substitution A G 3_prime_UTR_variant MELA-AU 1 33149131 33149131 single base substitution A G downstream_gene_variant MELA-AU 1 33149190 33149190 single base substitution C T 3_prime_UTR_variant MELA-AU 1 33149190 33149190 single base substitution C T downstream_gene_variant MELA-AU 1 33149564 33149564 single base substitution G A 3_prime_UTR_variant MELA-AU 1 33149564 33149564 single base substitution G A downstream_gene_variant MELA-AU 1 33150599 33150599 single base substitution A G 3_prime_UTR_variant MELA-AU 1 33150599 33150599 single base substitution A G downstream_gene_variant MELA-AU 1 33150896 33150897 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 1 33150896 33150897 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 33151033 33151033 single base substitution C T 3_prime_UTR_variant MELA-AU 1 33151033 33151033 single base substitution C T downstream_gene_variant MELA-AU 1 33151282 33151282 single base substitution C T 3_prime_UTR_variant MELA-AU 1 33151503 33151503 single base substitution C T 3_prime_UTR_variant MELA-AU 1 33152303 33152303 single base substitution G A downstream_gene_variant MELA-AU 1 33152469 33152469 single base substitution A G downstream_gene_variant MELA-AU 1 33153126 33153127 multiple base substitution (>=2bp and <=200bp) GT AA downstream_gene_variant MELA-AU 1 33153452 33153452 single base substitution T C downstream_gene_variant MELA-AU 1 33154043 33154043 single base substitution G A downstream_gene_variant MELA-AU 1 33156085 33156085 single base substitution A G downstream_gene_variant MELA-AU 1 33156331 33156331 single base substitution C T downstream_gene_variant MELA-AU 1 33156411 33156411 single base substitution G A downstream_gene_variant ORCA-IN 1 33117345 33117345 single base substitution G A 5_prime_UTR_variant ORCA-IN 1 33117345 33117345 single base substitution G A intron_variant ORCA-IN 1 33117897 33117897 single base substitution G C exon_variant ORCA-IN 1 33117897 33117897 single base substitution G C intron_variant ORCA-IN 1 33118330 33118330 single base substitution G C downstream_gene_variant ORCA-IN 1 33118330 33118330 single base substitution G C intron_variant ORCA-IN 1 33131276 33131276 single base substitution C T intron_variant ORCA-IN 1 33131276 33131276 single base substitution C T upstream_gene_variant ORCA-IN 1 33146822 33146822 single base substitution G A 3_prime_UTR_variant ORCA-IN 1 33146822 33146822 single base substitution G A downstream_gene_variant ORCA-IN 1 33149832 33149832 single base substitution G C 3_prime_UTR_variant ORCA-IN 1 33149832 33149832 single base substitution G C downstream_gene_variant ORCA-IN 1 33150752 33150752 single base substitution A T 3_prime_UTR_variant ORCA-IN 1 33150752 33150752 single base substitution A T downstream_gene_variant OV-AU 1 33116636 33116636 single base substitution G T upstream_gene_variant OV-AU 1 33129052 33129052 single base substitution A G intron_variant OV-AU 1 33129052 33129052 single base substitution A G upstream_gene_variant OV-AU 1 33144796 33144796 single base substitution G A intron_variant OV-AU 1 33146328 33146328 single base substitution C T 3_prime_UTR_variant OV-AU 1 33146328 33146328 single base substitution C T downstream_gene_variant OV-AU 1 33150110 33150110 single base substitution A G 3_prime_UTR_variant OV-AU 1 33150110 33150110 single base substitution A G downstream_gene_variant OV-AU 1 33151550 33151550 single base substitution G C 3_prime_UTR_variant OV-AU 1 33152913 33152913 single base substitution G T downstream_gene_variant OV-US 1 33123108 33123108 single base substitution C A exon_variant OV-US 1 33123108 33123108 single base substitution C A intron_variant OV-US 1 33123108 33123108 single base substitution C A missense_variant A47D 140C>A OV-US 1 33123108 33123108 single base substitution C A missense_variant A81D 242C>A OV-US 1 33123108 33123108 single base substitution C A missense_variant A82D 245C>A PACA-AU 1 33121593 33121593 single base substitution C T downstream_gene_variant PACA-AU 1 33121593 33121593 single base substitution C T intron_variant PACA-AU 1 33125663 33125663 single base substitution C T downstream_gene_variant PACA-AU 1 33125663 33125663 single base substitution C T intron_variant PACA-AU 1 33128728 33128728 insertion of <=200bp - A intron_variant PACA-AU 1 33136290 33136290 single base substitution C A downstream_gene_variant PACA-AU 1 33136290 33136290 single base substitution C A intron_variant PACA-AU 1 33136715 33136715 single base substitution T G downstream_gene_variant PACA-AU 1 33136715 33136715 single base substitution T G intron_variant PACA-AU 1 33138665 33138665 single base substitution G C downstream_gene_variant PACA-AU 1 33138665 33138665 single base substitution G C intron_variant PACA-AU 1 33139101 33139101 single base substitution C G downstream_gene_variant PACA-AU 1 33139101 33139101 single base substitution C G intron_variant PACA-AU 1 33139101 33139101 single base substitution C G missense_variant C177W 531C>G PACA-AU 1 33152058 33152058 single base substitution C A downstream_gene_variant PACA-AU 1 33153462 33153462 single base substitution A T downstream_gene_variant PACA-CA 1 33113613 33113613 single base substitution T C upstream_gene_variant PACA-CA 1 33115500 33115500 single base substitution G T upstream_gene_variant PACA-CA 1 33116974 33116974 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 1 33116974 33116974 single base substitution C T intron_variant PACA-CA 1 33116974 33116974 single base substitution C T upstream_gene_variant PACA-CA 1 33120820 33120820 single base substitution C T downstream_gene_variant PACA-CA 1 33120820 33120820 single base substitution C T intron_variant PACA-CA 1 33121522 33121522 single base substitution C A downstream_gene_variant PACA-CA 1 33121522 33121522 single base substitution C A intron_variant PACA-CA 1 33121947 33121947 insertion of <=200bp - TT downstream_gene_variant PACA-CA 1 33121947 33121947 insertion of <=200bp - TT intron_variant PACA-CA 1 33123780 33123780 single base substitution A G downstream_gene_variant PACA-CA 1 33123780 33123780 single base substitution A G intron_variant PACA-CA 1 33131448 33131448 single base substitution G C intron_variant PACA-CA 1 33131448 33131448 single base substitution G C upstream_gene_variant PACA-CA 1 33134418 33134418 single base substitution A G 3_prime_UTR_variant PACA-CA 1 33134418 33134418 single base substitution A G 5_prime_UTR_variant PACA-CA 1 33134418 33134418 single base substitution A G downstream_gene_variant PACA-CA 1 33134418 33134418 single base substitution A G exon_variant PACA-CA 1 33134418 33134418 single base substitution A G intron_variant PACA-CA 1 33134418 33134418 single base substitution A G missense_variant N153S 458A>G PACA-CA 1 33134418 33134418 single base substitution A G missense_variant N187S 560A>G PACA-CA 1 33134418 33134418 single base substitution A G missense_variant N188S 563A>G PACA-CA 1 33134418 33134418 single base substitution A G upstream_gene_variant PACA-CA 1 33134449 33134449 single base substitution T G 3_prime_UTR_variant PACA-CA 1 33134449 33134449 single base substitution T G 5_prime_UTR_variant PACA-CA 1 33134449 33134449 single base substitution T G downstream_gene_variant PACA-CA 1 33134449 33134449 single base substitution T G exon_variant PACA-CA 1 33134449 33134449 single base substitution T G intron_variant PACA-CA 1 33134449 33134449 single base substitution T G missense_variant D163E 489T>G PACA-CA 1 33134449 33134449 single base substitution T G missense_variant D197E 591T>G PACA-CA 1 33134449 33134449 single base substitution T G missense_variant D198E 594T>G PACA-CA 1 33134449 33134449 single base substitution T G upstream_gene_variant PACA-CA 1 33139448 33139448 single base substitution C G downstream_gene_variant PACA-CA 1 33139448 33139448 single base substitution C G intron_variant PACA-CA 1 33141898 33141898 single base substitution A G downstream_gene_variant PACA-CA 1 33141898 33141898 single base substitution A G intron_variant PACA-CA 1 33142224 33142224 single base substitution A G downstream_gene_variant PACA-CA 1 33142224 33142224 single base substitution A G intron_variant PACA-CA 1 33143844 33143844 deletion of <=200bp T - intron_variant PACA-CA 1 33147026 33147026 single base substitution A G 3_prime_UTR_variant PACA-CA 1 33147026 33147026 single base substitution A G downstream_gene_variant PACA-CA 1 33149336 33149336 single base substitution C T 3_prime_UTR_variant PACA-CA 1 33149336 33149336 single base substitution C T downstream_gene_variant PACA-CA 1 33156114 33156114 single base substitution C T downstream_gene_variant PAEN-AU 1 33148511 33148511 single base substitution A T 3_prime_UTR_variant PAEN-AU 1 33148511 33148511 single base substitution A T downstream_gene_variant PAEN-IT 1 33155269 33155269 single base substitution C T downstream_gene_variant PBCA-DE 1 33116088 33116088 deletion of <=200bp C - upstream_gene_variant PBCA-DE 1 33120775 33120775 single base substitution G T downstream_gene_variant PBCA-DE 1 33120775 33120775 single base substitution G T intron_variant PBCA-DE 1 33123762 33123762 single base substitution A G downstream_gene_variant PBCA-DE 1 33123762 33123762 single base substitution A G intron_variant PBCA-DE 1 33129564 33129564 single base substitution G A intron_variant PBCA-DE 1 33129564 33129564 single base substitution G A upstream_gene_variant PBCA-DE 1 33132046 33132046 single base substitution G A intron_variant PBCA-DE 1 33132046 33132046 single base substitution G A upstream_gene_variant PBCA-DE 1 33138322 33138322 single base substitution G C downstream_gene_variant PBCA-DE 1 33138322 33138322 single base substitution G C intron_variant PBCA-DE 1 33148680 33148680 insertion of <=200bp - C 3_prime_UTR_variant PBCA-DE 1 33148680 33148680 insertion of <=200bp - C downstream_gene_variant PRAD-CA 1 33117951 33117951 single base substitution C T exon_variant PRAD-CA 1 33117951 33117951 single base substitution C T intron_variant PRAD-CA 1 33145562 33145562 single base substitution A T 3_prime_UTR_variant PRAD-CA 1 33145562 33145562 single base substitution A T downstream_gene_variant PRAD-CA 1 33145562 33145562 single base substitution A T intron_variant PRAD-UK 1 33120261 33120261 single base substitution A G downstream_gene_variant PRAD-UK 1 33120261 33120261 single base substitution A G intron_variant PRAD-UK 1 33146736 33146738 deletion of <=200bp TTG - 3_prime_UTR_variant PRAD-UK 1 33146736 33146738 deletion of <=200bp TTG - downstream_gene_variant PRAD-US 1 33149862 33149862 single base substitution T C 3_prime_UTR_variant PRAD-US 1 33149862 33149862 single base substitution T C downstream_gene_variant RECA-EU 1 33118205 33118205 single base substitution G T downstream_gene_variant RECA-EU 1 33118205 33118205 single base substitution G T intron_variant RECA-EU 1 33119247 33119247 single base substitution T G downstream_gene_variant RECA-EU 1 33119247 33119247 single base substitution T G intron_variant RECA-EU 1 33123101 33123101 single base substitution G A downstream_gene_variant RECA-EU 1 33123101 33123101 single base substitution G A exon_variant RECA-EU 1 33123101 33123101 single base substitution G A intron_variant RECA-EU 1 33123101 33123101 single base substitution G A missense_variant V45I 133G>A RECA-EU 1 33123101 33123101 single base substitution G A missense_variant V79I 235G>A RECA-EU 1 33123101 33123101 single base substitution G A missense_variant V80I 238G>A RECA-EU 1 33137791 33137791 single base substitution A G downstream_gene_variant RECA-EU 1 33137791 33137791 single base substitution A G intron_variant RECA-EU 1 33142309 33142309 single base substitution T G downstream_gene_variant RECA-EU 1 33142309 33142309 single base substitution T G intron_variant RECA-EU 1 33151634 33151634 single base substitution C A 3_prime_UTR_variant SKCA-BR 1 33111924 33111924 single base substitution G A upstream_gene_variant SKCA-BR 1 33115230 33115232 deletion of <=200bp TAA - upstream_gene_variant SKCA-BR 1 33115234 33115234 single base substitution A C upstream_gene_variant SKCA-BR 1 33115268 33115270 deletion of <=200bp CAT - upstream_gene_variant SKCA-BR 1 33116723 33116723 single base substitution T C upstream_gene_variant SKCA-BR 1 33116862 33116862 single base substitution T C 5_prime_UTR_variant SKCA-BR 1 33116862 33116862 single base substitution T C exon_variant SKCA-BR 1 33116862 33116862 single base substitution T C upstream_gene_variant SKCA-BR 1 33117028 33117028 single base substitution T A 5_prime_UTR_variant SKCA-BR 1 33117028 33117028 single base substitution T A intron_variant SKCA-BR 1 33117028 33117028 single base substitution T A upstream_gene_variant SKCA-BR 1 33119246 33119246 insertion of <=200bp - TG downstream_gene_variant SKCA-BR 1 33119246 33119246 insertion of <=200bp - TG intron_variant SKCA-BR 1 33119258 33119261 deletion of <=200bp TTTG - downstream_gene_variant SKCA-BR 1 33119258 33119261 deletion of <=200bp TTTG - intron_variant SKCA-BR 1 33119266 33119267 deletion of <=200bp TG - downstream_gene_variant SKCA-BR 1 33119266 33119267 deletion of <=200bp TG - intron_variant SKCA-BR 1 33119593 33119593 single base substitution A G downstream_gene_variant SKCA-BR 1 33119593 33119593 single base substitution A G intron_variant SKCA-BR 1 33129581 33129581 single base substitution G T intron_variant SKCA-BR 1 33129581 33129581 single base substitution G T upstream_gene_variant SKCA-BR 1 33130929 33130929 single base substitution G C intron_variant SKCA-BR 1 33130929 33130929 single base substitution G C upstream_gene_variant SKCA-BR 1 33137027 33137027 single base substitution T A downstream_gene_variant SKCA-BR 1 33137027 33137027 single base substitution T A intron_variant SKCA-BR 1 33137831 33137831 single base substitution T C downstream_gene_variant SKCA-BR 1 33137831 33137831 single base substitution T C intron_variant SKCA-BR 1 33137834 33137834 single base substitution A C downstream_gene_variant SKCA-BR 1 33137834 33137834 single base substitution A C intron_variant SKCA-BR 1 33139045 33139045 single base substitution T C downstream_gene_variant SKCA-BR 1 33139045 33139045 single base substitution T C intron_variant SKCA-BR 1 33142213 33142214 deletion of <=200bp CA - downstream_gene_variant SKCA-BR 1 33142213 33142214 deletion of <=200bp CA - intron_variant SKCA-BR 1 33142230 33142230 single base substitution G A downstream_gene_variant SKCA-BR 1 33142230 33142230 single base substitution G A intron_variant SKCA-BR 1 33145681 33145681 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 33145681 33145681 single base substitution C T downstream_gene_variant SKCA-BR 1 33145681 33145681 single base substitution C T intron_variant SKCA-BR 1 33145742 33145742 single base substitution A G 3_prime_UTR_variant SKCA-BR 1 33145742 33145742 single base substitution A G downstream_gene_variant SKCA-BR 1 33145742 33145742 single base substitution A G intron_variant SKCA-BR 1 33145954 33145954 single base substitution G T 3_prime_UTR_variant SKCA-BR 1 33145954 33145954 single base substitution G T downstream_gene_variant SKCA-BR 1 33145954 33145954 single base substitution G T intron_variant SKCA-BR 1 33153795 33153795 single base substitution T C downstream_gene_variant SKCA-BR 1 33154091 33154091 single base substitution A G downstream_gene_variant SKCA-BR 1 33156461 33156465 deletion of <=200bp GCAGA - downstream_gene_variant SKCM-US 1 33117641 33117641 single base substitution A G 5_prime_UTR_variant SKCM-US 1 33117641 33117641 single base substitution A G exon_variant SKCM-US 1 33117641 33117641 single base substitution A G missense_variant Q13R 38A>G SKCM-US 1 33117641 33117641 single base substitution A G missense_variant Q47R 140A>G SKCM-US 1 33117641 33117641 single base substitution A G missense_variant Q48R 143A>G SKCM-US 1 33134452 33134452 single base substitution C T 3_prime_UTR_variant SKCM-US 1 33134452 33134452 single base substitution C T 5_prime_UTR_variant SKCM-US 1 33134452 33134452 single base substitution C T downstream_gene_variant SKCM-US 1 33134452 33134452 single base substitution C T exon_variant SKCM-US 1 33134452 33134452 single base substitution C T intron_variant SKCM-US 1 33134452 33134452 single base substitution C T synonymous_variant D164D 492C>T SKCM-US 1 33134452 33134452 single base substitution C T synonymous_variant D198D 594C>T SKCM-US 1 33134452 33134452 single base substitution C T synonymous_variant D199D 597C>T SKCM-US 1 33134452 33134452 single base substitution C T upstream_gene_variant SKCM-US 1 33134686 33134686 single base substitution C T 3_prime_UTR_variant SKCM-US 1 33134686 33134686 single base substitution C T 5_prime_UTR_variant SKCM-US 1 33134686 33134686 single base substitution C T downstream_gene_variant SKCM-US 1 33134686 33134686 single base substitution C T exon_variant SKCM-US 1 33134686 33134686 single base substitution C T synonymous_variant L203L 609C>T SKCM-US 1 33134686 33134686 single base substitution C T synonymous_variant L237L 711C>T SKCM-US 1 33134686 33134686 single base substitution C T synonymous_variant L238L 714C>T SKCM-US 1 33134686 33134686 single base substitution C T synonymous_variant L40L 120C>T SKCM-US 1 33134686 33134686 single base substitution C T upstream_gene_variant SKCM-US 1 33135134 33135134 single base substitution C T 3_prime_UTR_variant SKCM-US 1 33135134 33135134 single base substitution C T downstream_gene_variant SKCM-US 1 33135134 33135134 single base substitution C T exon_variant SKCM-US 1 33135134 33135134 single base substitution C T synonymous_variant S114S 342C>T SKCM-US 1 33135134 33135134 single base substitution C T synonymous_variant S277S 831C>T SKCM-US 1 33135134 33135134 single base substitution C T synonymous_variant S311S 933C>T SKCM-US 1 33135134 33135134 single base substitution C T synonymous_variant S312S 936C>T SKCM-US 1 33135134 33135134 single base substitution C T synonymous_variant S50S 150C>T SKCM-US 1 33135134 33135134 single base substitution C T synonymous_variant S60S 180C>T SKCM-US 1 33135134 33135134 single base substitution C T synonymous_variant S71S 213C>T SKCM-US 1 33138102 33138102 single base substitution C T 3_prime_UTR_variant SKCM-US 1 33138102 33138102 single base substitution C T downstream_gene_variant SKCM-US 1 33138102 33138102 single base substitution C T exon_variant SKCM-US 1 33138102 33138102 single base substitution C T missense_variant R142C 424C>T SKCM-US 1 33138102 33138102 single base substitution C T missense_variant R305C 913C>T SKCM-US 1 33138102 33138102 single base substitution C T missense_variant R339C 1015C>T SKCM-US 1 33138102 33138102 single base substitution C T missense_variant R340C 1018C>T SKCM-US 1 33138102 33138102 single base substitution C T missense_variant R78C 232C>T SKCM-US 1 33138102 33138102 single base substitution C T missense_variant R88C 262C>T SKCM-US 1 33138102 33138102 single base substitution C T missense_variant R99C 295C>T SKCM-US 1 33138435 33138435 single base substitution G A 3_prime_UTR_variant SKCM-US 1 33138435 33138435 single base substitution G A downstream_gene_variant SKCM-US 1 33138435 33138435 single base substitution G A exon_variant SKCM-US 1 33138435 33138435 single base substitution G A stop_gained W120* 359G>A SKCM-US 1 33138435 33138435 single base substitution G A stop_gained W130* 389G>A SKCM-US 1 33138435 33138435 single base substitution G A stop_gained W141* 422G>A SKCM-US 1 33138435 33138435 single base substitution G A stop_gained W184* 551G>A SKCM-US 1 33138435 33138435 single base substitution G A stop_gained W347* 1040G>A SKCM-US 1 33138435 33138435 single base substitution G A stop_gained W381* 1142G>A SKCM-US 1 33138435 33138435 single base substitution G A stop_gained W382* 1145G>A SKCM-US 1 33138492 33138492 single base substitution T C 3_prime_UTR_variant SKCM-US 1 33138492 33138492 single base substitution T C downstream_gene_variant SKCM-US 1 33138492 33138492 single base substitution T C exon_variant SKCM-US 1 33138492 33138492 single base substitution T C missense_variant V139A 416T>C SKCM-US 1 33138492 33138492 single base substitution T C missense_variant V149A 446T>C SKCM-US 1 33138492 33138492 single base substitution T C missense_variant V160A 479T>C SKCM-US 1 33138492 33138492 single base substitution T C missense_variant V203A 608T>C SKCM-US 1 33138492 33138492 single base substitution T C missense_variant V366A 1097T>C SKCM-US 1 33138492 33138492 single base substitution T C missense_variant V400A 1199T>C SKCM-US 1 33138492 33138492 single base substitution T C missense_variant V401A 1202T>C STAD-US 1 33116139 33116139 single base substitution G A upstream_gene_variant STAD-US 1 33117607 33117607 single base substitution A G 5_prime_UTR_variant STAD-US 1 33117607 33117607 single base substitution A G exon_variant STAD-US 1 33117607 33117607 single base substitution A G missense_variant T2A 4A>G STAD-US 1 33117607 33117607 single base substitution A G missense_variant T36A 106A>G STAD-US 1 33117607 33117607 single base substitution A G missense_variant T37A 109A>G STAD-US 1 33133933 33133933 single base substitution A G 3_prime_UTR_variant STAD-US 1 33133933 33133933 single base substitution A G downstream_gene_variant STAD-US 1 33133933 33133933 single base substitution A G exon_variant STAD-US 1 33133933 33133933 single base substitution A G intron_variant STAD-US 1 33133933 33133933 single base substitution A G missense_variant I105V 313A>G STAD-US 1 33133933 33133933 single base substitution A G missense_variant I139V 415A>G STAD-US 1 33133933 33133933 single base substitution A G missense_variant I140V 418A>G STAD-US 1 33133933 33133933 single base substitution A G missense_variant I5V 13A>G STAD-US 1 33133933 33133933 single base substitution A G upstream_gene_variant STAD-US 1 33134370 33134370 single base substitution G A 3_prime_UTR_variant STAD-US 1 33134370 33134370 single base substitution G A 5_prime_UTR_variant STAD-US 1 33134370 33134370 single base substitution G A downstream_gene_variant STAD-US 1 33134370 33134370 single base substitution G A exon_variant STAD-US 1 33134370 33134370 single base substitution G A intron_variant STAD-US 1 33134370 33134370 single base substitution G A missense_variant R137H 410G>A STAD-US 1 33134370 33134370 single base substitution G A missense_variant R171H 512G>A STAD-US 1 33134370 33134370 single base substitution G A missense_variant R172H 515G>A STAD-US 1 33134370 33134370 single base substitution G A upstream_gene_variant STAD-US 1 33134400 33134400 single base substitution G A 3_prime_UTR_variant STAD-US 1 33134400 33134400 single base substitution G A 5_prime_UTR_variant STAD-US 1 33134400 33134400 single base substitution G A downstream_gene_variant STAD-US 1 33134400 33134400 single base substitution G A exon_variant STAD-US 1 33134400 33134400 single base substitution G A intron_variant STAD-US 1 33134400 33134400 single base substitution G A missense_variant G147E 440G>A STAD-US 1 33134400 33134400 single base substitution G A missense_variant G181E 542G>A STAD-US 1 33134400 33134400 single base substitution G A missense_variant G182E 545G>A STAD-US 1 33134400 33134400 single base substitution G A upstream_gene_variant STAD-US 1 33134427 33134427 single base substitution G T 3_prime_UTR_variant STAD-US 1 33134427 33134427 single base substitution G T 5_prime_UTR_variant STAD-US 1 33134427 33134427 single base substitution G T downstream_gene_variant STAD-US 1 33134427 33134427 single base substitution G T exon_variant STAD-US 1 33134427 33134427 single base substitution G T intron_variant STAD-US 1 33134427 33134427 single base substitution G T missense_variant G156V 467G>T STAD-US 1 33134427 33134427 single base substitution G T missense_variant G190V 569G>T STAD-US 1 33134427 33134427 single base substitution G T missense_variant G191V 572G>T STAD-US 1 33134427 33134427 single base substitution G T upstream_gene_variant STAD-US 1 33134451 33134451 single base substitution A G 3_prime_UTR_variant STAD-US 1 33134451 33134451 single base substitution A G 5_prime_UTR_variant STAD-US 1 33134451 33134451 single base substitution A G downstream_gene_variant STAD-US 1 33134451 33134451 single base substitution A G exon_variant STAD-US 1 33134451 33134451 single base substitution A G intron_variant STAD-US 1 33134451 33134451 single base substitution A G missense_variant D164G 491A>G STAD-US 1 33134451 33134451 single base substitution A G missense_variant D198G 593A>G STAD-US 1 33134451 33134451 single base substitution A G missense_variant D199G 596A>G STAD-US 1 33134451 33134451 single base substitution A G upstream_gene_variant STAD-US 1 33134616 33134616 single base substitution A G 3_prime_UTR_variant STAD-US 1 33134616 33134616 single base substitution A G 5_prime_UTR_variant STAD-US 1 33134616 33134616 single base substitution A G downstream_gene_variant STAD-US 1 33134616 33134616 single base substitution A G exon_variant STAD-US 1 33134616 33134616 single base substitution A G intron_variant STAD-US 1 33134616 33134616 single base substitution A G missense_variant K180R 539A>G STAD-US 1 33134616 33134616 single base substitution A G missense_variant K214R 641A>G STAD-US 1 33134616 33134616 single base substitution A G missense_variant K215R 644A>G STAD-US 1 33134616 33134616 single base substitution A G upstream_gene_variant THCA-SA 1 33148935 33148935 single base substitution G A 3_prime_UTR_variant THCA-SA 1 33148935 33148935 single base substitution G A downstream_gene_variant THCA-US 1 33123032 33123032 single base substitution G A downstream_gene_variant THCA-US 1 33123032 33123032 single base substitution G A exon_variant THCA-US 1 33123032 33123032 single base substitution G A intron_variant THCA-US 1 33123032 33123032 single base substitution G A missense_variant E22K 64G>A THCA-US 1 33123032 33123032 single base substitution G A missense_variant E56K 166G>A THCA-US 1 33123032 33123032 single base substitution G A missense_variant E57K 169G>A UCEC-US 1 33116096 33116096 single base substitution T C upstream_gene_variant UCEC-US 1 33117531 33117531 single base substitution A G 5_prime_UTR_variant UCEC-US 1 33117531 33117531 single base substitution A G exon_variant UCEC-US 1 33117531 33117531 single base substitution A G synonymous_variant A10A 30A>G UCEC-US 1 33117531 33117531 single base substitution A G synonymous_variant A11A 33A>G UCEC-US 1 33134712 33134712 single base substitution C A 3_prime_UTR_variant UCEC-US 1 33134712 33134712 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 1 33134712 33134712 single base substitution C A downstream_gene_variant UCEC-US 1 33134712 33134712 single base substitution C A exon_variant UCEC-US 1 33134712 33134712 single base substitution C A missense_variant A212D 635C>A UCEC-US 1 33134712 33134712 single base substitution C A missense_variant A246D 737C>A UCEC-US 1 33134712 33134712 single base substitution C A missense_variant A247D 740C>A UCEC-US 1 33134712 33134712 single base substitution C A missense_variant A49D 146C>A UCEC-US 1 33134712 33134712 single base substitution C A missense_variant A6D 17C>A UCEC-US 1 33134712 33134712 single base substitution C A upstream_gene_variant UCEC-US 1 33134712 33134712 single base substitution C T 3_prime_UTR_variant UCEC-US 1 33134712 33134712 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant UCEC-US 1 33134712 33134712 single base substitution C T downstream_gene_variant UCEC-US 1 33134712 33134712 single base substitution C T exon_variant UCEC-US 1 33134712 33134712 single base substitution C T missense_variant A212V 635C>T UCEC-US 1 33134712 33134712 single base substitution C T missense_variant A246V 737C>T UCEC-US 1 33134712 33134712 single base substitution C T missense_variant A247V 740C>T UCEC-US 1 33134712 33134712 single base substitution C T missense_variant A49V 146C>T UCEC-US 1 33134712 33134712 single base substitution C T missense_variant A6V 17C>T UCEC-US 1 33134712 33134712 single base substitution C T upstream_gene_variant UCEC-US 1 33138465 33138465 single base substitution C T 3_prime_UTR_variant UCEC-US 1 33138465 33138465 single base substitution C T downstream_gene_variant UCEC-US 1 33138465 33138465 single base substitution C T exon_variant UCEC-US 1 33138465 33138465 single base substitution C T missense_variant S130F 389C>T UCEC-US 1 33138465 33138465 single base substitution C T missense_variant S140F 419C>T UCEC-US 1 33138465 33138465 single base substitution C T missense_variant S151F 452C>T UCEC-US 1 33138465 33138465 single base substitution C T missense_variant S194F 581C>T UCEC-US 1 33138465 33138465 single base substitution C T missense_variant S357F 1070C>T UCEC-US 1 33138465 33138465 single base substitution C T missense_variant S391F 1172C>T UCEC-US 1 33138465 33138465 single base substitution C T missense_variant S392F 1175C>T

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-AP-A0LM-01 COSM908325 c.740C>A p.A247D Substitution - Missense 1:32669111-32669111 + SWE-4B COSM1179536 c.1186G>T p.D396Y Substitution - Missense 1:32672875-32672875 + TCGA-LL-A5YO-01 COSM4391605 c.207G>T p.G69G Substitution - coding silent 1:32657469-32657469 + ACINAR03 COSM1734273 c.232_234delCAT p.H78delH Deletion - In frame 1:32657494-32657496 + TCGA-EL-A3T3-01 COSM3369695 c.169G>A p.E57K Substitution - Missense 1:32657431-32657431 + TCGA-EE-A2MC-06 COSM3488187 c.1202T>C p.V401A Substitution - Missense 1:32672891-32672891 + PD18769a COSM5777458 c.691G>A p.E231K Substitution - Missense 1:32669062-32669062 + TCGA-GC-A3RC-01 COSM3789891 c.717T>C p.H239H Substitution - coding silent 1:32669088-32669088 + SW48 COSM2078160 c.872C>T p.T291I Substitution - Missense 1:32669341-32669341 + CSCC-10-T COSM4514113 c.963C>T p.F321F Substitution - coding silent 1:32669560-32669560 + TCGA-HU-A4G9-01 COSM2078154 c.515G>A p.R172H Substitution - Missense 1:32668769-32668769 + TCGA-DK-A1A3-01 COSM414475 c.1140C>T p.F380F Substitution - coding silent 1:32672829-32672829 + 08-129 COSM305649 c.628G>T p.V210F Substitution - Missense 1:32668999-32668999 + C086 COSM5538052 c.848C>T p.P283L Substitution - Missense 1:32669317-32669317 + ESCC_135 COSM5642879 c.664A>G p.I222V Substitution - Missense 1:32669035-32669035 + 1874576 COSM1234985 c.988G>A p.E330K Substitution - Missense 1:32672471-32672471 + TCGA-G4-6309-01 COSM1341840 c.284C>T p.A95V Substitution - Missense 1:32657546-32657546 + TCGA-HU-A4GN-01 COSM4031504 c.572G>T p.G191V Substitution - Missense 1:32668826-32668826 + RKO COSM4647699 c.86C>T p.P29L Substitution - Missense 1:32651983-32651983 + TCGA-DK-A3WW-01 COSM3789892 c.1015G>A p.D339N Substitution - Missense 1:32672498-32672498 + Pat_65_A COSM5846404 c.628G>A p.V210I Substitution - Missense 1:32668999-32668999 + T3080 COSM1341840 c.284C>T p.A95V Substitution - Missense 1:32657546-32657546 + TCGA-EE-A2MJ-06 COSM3488183 c.714C>T p.L238L Substitution - coding silent 1:32669085-32669085 + TCGA-CG-5721-01 COSM4031501 c.109A>G p.T37A Substitution - Missense 1:32652006-32652006 + C0028T COSM4165157 c.238G>A p.V80I Substitution - Missense 1:32657500-32657500 + S02234 COSM5675911 c.205G>A p.G69R Substitution - Missense 1:32657467-32657467 + TCGA-06-0168 COSM2150252 c.763T>G p.W255G Substitution - Missense 1:32669232-32669232 + TCGA-AB-2926-03 COSM1234985 c.988G>A p.E330K Substitution - Missense 1:32672471-32672471 + TCGA-ER-A193-06 COSM3488186 c.1145G>A p.W382* Substitution - Nonsense 1:32672834-32672834 + T1194 COSM4720572 c.783T>C p.N261N Substitution - coding silent 1:32669252-32669252 + ACINAR04 COSM1734272 c.137C>T p.T46I Substitution - Missense 1:32652034-32652034 + STC273 COSM5053406 c.808G>A p.D270N Substitution - Missense 1:32669277-32669277 + GHE0988 COSM5714930 c.40G>A p.E14K Substitution - Missense 1:32651937-32651937 + T3225 COSM2078154 c.515G>A p.R172H Substitution - Missense 1:32668769-32668769 + TCGA-BR-6452-01 COSM4031505 c.644A>G p.K215R Substitution - Missense 1:32669015-32669015 + TCGA-BR-8372-01 COSM4031502 c.418A>G p.I140V Substitution - Missense 1:32668332-32668332 + ESO-0125 COSM1263878 c.194G>A p.R65Q Substitution - Missense 1:32657456-32657456 + CHC1712T COSM4791972 c.178G>C p.D60H Substitution - Missense 1:32657440-32657440 + TCGA-AR-A24Z-01 COSM1473877 c.51C>T p.I17I Substitution - coding silent 1:32651948-32651948 + TCGA-18-3409-01 COSM681094 c.847C>T p.P283S Substitution - Missense 1:32669316-32669316 + TCGA-AP-A059-01 COSM908327 c.1175C>T p.S392F Substitution - Missense 1:32672864-32672864 + TCGA-JW-A5VL-01 COSM4847236 c.1231G>C p.D411H Substitution - Missense 1:32679658-32679658 + LC_S11 COSM1185396 c.317G>C p.G106A Substitution - Missense 1:32668231-32668231 + P03-871 COSM246962 c.736G>T p.V246F Substitution - Missense 1:32669107-32669107 + DLD1 COSM2078148 c.164G>T p.R55I Substitution - Missense 1:32652061-32652061 + TCGA-BR-4363-01 COSM221386 c.596A>G p.D199G Substitution - Missense 1:32668850-32668850 + STC273 COSM5053405 c.592G>C p.D198H Substitution - Missense 1:32668846-32668846 + HCC72 COSM3705783 c.221A>G p.D74G Substitution - Missense 1:32657483-32657483 + TCGA-04-1362-01 COSM76183 c.245C>A p.A82D Substitution - Missense 1:32657507-32657507 + PM-7 COSM5619611 c.13G>A p.E5K Substitution - Missense 1:32651319-32651319 + TCGA-CZ-5470-01 COSM464444 c.1128G>T p.K376N Substitution - Missense 1:32672817-32672817 + BN23 COSM1602220 c.481C>G p.P161A Substitution - Missense 1:32668395-32668395 + HCC72T COSM3705783 c.221A>G p.D74G Substitution - Missense 1:32657483-32657483 + BD72T COSM5511479 c.395A>G p.Y132C Substitution - Missense 1:32668309-32668309 + sysucc-1370T COSM5470148 c.391C>T p.R131C Substitution - Missense 1:32668305-32668305 + CHC1712T COSM4791972 c.178G>C p.D60H Substitution - Missense 1:32657440-32657440 + 585210 COSM326327 c.1156G>A p.E386K Substitution - Missense 1:32672845-32672845 + TCGA-EE-A2MR-06 COSM3488182 c.597C>T p.D199D Substitution - coding silent 1:32668851-32668851 + LUAD-S01315 COSM345040 c.55G>A p.E19K Substitution - Missense 1:32651952-32651952 + SA054 COSM211829 c.116C>G p.A39G Substitution - Missense 1:32652013-32652013 + WA43-44 COSM241372 c.118C>G p.L40V Substitution - Missense 1:32652015-32652015 + TCGA-BG-A0VZ-01 COSM908323 c.33A>G p.A11A Substitution - coding silent 1:32651930-32651930 + DLBCL-PatientH COSM221386 c.596A>G p.D199G Substitution - Missense 1:32668850-32668850 + CHEWS032 COSM4577230 c.285G>A p.A95A Substitution - coding silent 1:32657547-32657547 + ESO-0079 COSM1263877 c.49A>T p.I17F Substitution - Missense 1:32651946-32651946 + T2269 COSM4720571 c.565C>T p.L189F Substitution - Missense 1:32668819-32668819 + TCGA-G4-6586-01 COSM1341841 c.1056G>T p.E352D Substitution - Missense 1:32672654-32672654 + TCGA-BR-4369-01 COSM4031503 c.545G>A p.G182E Substitution - Missense 1:32668799-32668799 + Pat_45_B COSM5846405 c.1133C>T p.S378F Substitution - Missense 1:32672822-32672822 + TCGA-EE-A2MK-06 COSM3488185 c.1018C>T p.R340C Substitution - Missense 1:32672501-32672501 + TCGA-GM-A2DK-01 COSM3804974 c.51C>A p.I17I Substitution - coding silent 1:32651948-32651948 + BN23T COSM1602220 c.481C>G p.P161A Substitution - Missense 1:32668395-32668395 + TCGA-D8-A27N-01 COSM1473878 c.1194C>T p.I398I Substitution - coding silent 1:32672883-32672883 + TCGA-AZ-4315-01 COSM1341842 c.1108C>A p.H370N Substitution - Missense 1:32672797-32672797 + YUKLAB COSM1687344 c.935C>T p.S312F Substitution - Missense 1:32669532-32669532 + T3149 COSM4720570 c.294C>T p.Y98Y Substitution - coding silent 1:32657556-32657556 + 587332 COSM1223277 c.143A>G p.Q48R Substitution - Missense 1:32652040-32652040 + HCT15 COSM2078148 c.164G>T p.R55I Substitution - Missense 1:32652061-32652061 + TCGA-AB-2919-03 COSM1234985 c.988G>A p.E330K Substitution - Missense 1:32672471-32672471 + LC_S11 COSM1185395 c.316G>T p.G106* Substitution - Nonsense 1:32668230-32668230 + TCGA-EE-A29D-06 COSM3488184 c.936C>T p.S312S Substitution - coding silent 1:32669533-32669533 + TCGA-EB-A3Y7-01 COSM1223277 c.143A>G p.Q48R Substitution - Missense 1:32652040-32652040 + 585267 COSM326328 c.1069G>A p.E357K Substitution - Missense 1:32672667-32672667 + NPC37F COSM4995442 c.1064C>G p.S355C Substitution - Missense 1:32672662-32672662 + CMLPh-004 COSM1234985 c.988G>A p.E330K Substitution - Missense 1:32672471-32672471 + TCGA-B5-A0JY-01 COSM908326 c.740C>T p.A247V Substitution - Missense 1:32669111-32669111 + 8044951 COSM3386089 c.595G>A p.D199N Substitution - Missense 1:32668849-32668849 + XHDG22 COSM4768943 c.823G>A p.E275K Substitution - Missense 1:32669292-32669292 + LIM2405 COSM4641808 c.165A>G p.R55R Substitution - coding silent 1:32657427-32657427 + WA43-27 COSM241372 c.118C>G p.L40V Substitution - Missense 1:32652015-32652015 + C086 COSM5538053 c.897C>T p.A299A Substitution - coding silent 1:32669494-32669494 + WA43-71 COSM241372 c.118C>G p.L40V Substitution - Missense 1:32652015-32652015 + T2197 COSM1341840 c.284C>T p.A95V Substitution - Missense 1:32657546-32657546 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.16003 1p35.1 602923 2413714|CGAP|BC003092|A/G|non-coding||1799|Validated; 2413714|CGAP|BC053904|A/G|non-coding||1785|Validated; 2413714|CGAP|BC075836|A/G|non-coding||1740|Validated; 2413716|CGAP|BC003092|A/C|coding|Pro265Pro|880|Candidate; 2413716|CGAP|BC053904|A/C|coding|Pro265Pro|866|Candidate; 2413716|CGAP|BC075836|A/C|coding|Pro265Pro|821|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AGA - InFrameDeletion p.E231delE c.693_695delAGA 1 33134662 HNSC A G IntronicSNV . c.165-1480A>G 1 33121548 CLL A G Missense p.D199G c.596A>G 1 33134451 STAD A G Synonymous p.A11A c.33A>G 1 33117531 UCEC A T Missense p.I17F c.49A>T 1 33117547 ESCA ATTT - IntronicDeletion . c.17-21_17-18delATTT 1 33117494 CLL C A Missense p.A82D c.245C>A 1 33123108 OV C A Synonymous p.I119I c.357C>A 1 33133872 LUAD C G Missense p.A39G c.116C>G 1 33117614 BRCA C G Missense p.N128K c.384C>G 1 33133899 CM C T IntronicSNV . c.484+55C>T 1 33134054 CM C T Missense p.P87S c.259C>T 1 33123122 CM C T Missense p.R340C c.1018C>T 1 33138102 CM C T Missense p.S378F c.1133C>T 1 33138423 CM C T Synonymous p.F380F c.1140C>T 1 33138430 BLCA C T Synonymous p.I17I c.51C>T 1 33117549 BRCA C T Synonymous p.I398I c.1194C>T 1 33138484 BRCA C T Synonymous p.L238L c.714C>T 1 33134686 CM G A Missense p.E330K c.988G>A 1 33138072 AML G A Missense p.E357K c.1069G>A 1 33138268 SCLC G A Missense p.E386K c.1156G>A 1 33138446 SCLC G A Missense p.E57K c.169G>A 1 33123032 THCA G A Missense p.G182E c.545G>A 1 33134400 STAD G A Missense p.R65Q c.194G>A 1 33123057 ESCA G A Nonsense p.W382* c.1145G>A 1 33138435 CM T A Missense p.L306Q c.917T>A 1 33135115 LUAD T C Missense p.V401A c.1202T>C 1 33138492 CM T G Missense p.W255G c.763T>G 1 33134833 GBM