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 3 182681740 182681740 + Silent SNP C C T TCGA-OR-A5J5-01A-11D-A29I-10 TCGA-OR-A5J5-10A-01D-A29L-10 g.chr3:182681740C>T c.318G>A c.(316-318)gcG>gcA p.A106A BLCA 3 182681826 182681826 + Nonsense_Mutation SNP C C A TCGA-H4-A2HQ-01A-11D-A17V-08 TCGA-H4-A2HQ-10A-01D-A17V-08 g.chr3:182681826C>A c.232G>T c.(232-234)Gag>Tag p.E78* BLCA 3 182681832 182681832 + Missense_Mutation SNP G G C TCGA-4Z-AA7M-01A-11D-A391-08 TCGA-4Z-AA7M-10A-01D-A394-08 g.chr3:182681832G>C c.226C>G c.(226-228)Caa>Gaa p.Q76E BLCA 3 182683333 182683333 + Missense_Mutation SNP C C G TCGA-DK-A3WW-01A-22D-A23M-08 TCGA-DK-A3WW-10A-01D-A23K-08 g.chr3:182683333C>G c.212G>C c.(211-213)aGa>aCa p.R71T BRCA 3 182665361 182665361 + Missense_Mutation SNP C C T TCGA-AR-A256-01A-11D-A167-09 TCGA-AR-A256-10A-01D-A167-09 g.chr3:182665361C>T c.580G>A c.(580-582)Gac>Aac p.D194N BRCA 3 182665365 182665365 + Missense_Mutation SNP G G C TCGA-AC-A23H-01A-11D-A159-09 TCGA-AC-A23H-11A-12D-A17G-09 g.chr3:182665365G>C c.576C>G c.(574-576)ttC>ttG p.F192L BRCA 3 182683349 182683349 + Nonsense_Mutation SNP C C A TCGA-AC-A23C-01A-12D-A167-09 TCGA-AC-A23C-10A-01D-A167-09 g.chr3:182683349C>A c.196G>T c.(196-198)Gaa>Taa p.E66* COAD 3 182665370 182665370 + Missense_Mutation SNP T T G TCGA-AA-3856-01A-01W-0900-09 TCGA-AA-3856-10A-01W-0900-09 g.chr3:182665370T>G c.571A>C c.(571-573)Aaa>Caa p.K191Q COAD 3 182681765 182681765 + Missense_Mutation SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr3:182681765G>A c.293C>T c.(292-294)gCc>gTc p.A98V COAD 3 182683524 182683524 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:182683524C>T c.21G>A c.(19-21)tcG>tcA p.S7S COADREAD 3 182665370 182665370 + Missense_Mutation SNP T T G TCGA-AA-3856-01A-01W-0900-09 TCGA-AA-3856-10A-01W-0900-09 g.chr3:182665370T>G c.571A>C c.(571-573)Aaa>Caa p.K191Q COADREAD 3 182681755 182681755 + Silent SNP A A G TCGA-DC-6683-01A-11D-1826-10 TCGA-DC-6683-10A-01D-1826-10 g.chr3:182681755A>G c.303T>C c.(301-303)agT>agC p.S101S COADREAD 3 182681765 182681765 + Missense_Mutation SNP G G A TCGA-A6-5665-01A-01D-1650-10 TCGA-A6-5665-10A-01D-1650-10 g.chr3:182681765G>A c.293C>T c.(292-294)gCc>gTc p.A98V COADREAD 3 182683508 182683508 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:182683508G>A c.37C>T c.(37-39)Cgt>Tgt p.R13C COADREAD 3 182683524 182683524 + Silent SNP C C T TCGA-AA-3977-01A-01W-0995-10 TCGA-AA-3977-10A-01W-0999-10 g.chr3:182683524C>T c.21G>A c.(19-21)tcG>tcA p.S7S ESCA 3 182683508 182683508 + Missense_Mutation SNP G G T TCGA-L5-A4OT-01A-11D-A28B-09 TCGA-L5-A4OT-11A-11D-A28E-09 g.chr3:182683508G>T c.37C>A c.(37-39)Cgt>Agt p.R13S GBMLGG 3 182683487 182683487 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:182683487G>A c.58C>T c.(58-60)Caa>Taa p.Q20* HNSC 3 182665102 182665102 + Silent SNP T T G TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 g.chr3:182665102T>G c.624A>C c.(622-624)atA>atC p.I208I HNSC 3 182683478 182683478 + Missense_Mutation SNP C C T TCGA-CV-7427-01A-11D-2078-08 TCGA-CV-7427-10A-01D-2078-08 g.chr3:182683478C>T c.67G>A c.(67-69)Gaa>Aaa p.E23K KICH 3 182681755 182681755 + Silent SNP A A G TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr3:182681755A>G c.303T>C c.(301-303)agT>agC p.S101S KIPAN 3 182681755 182681755 + Silent SNP A A G TCGA-KN-8428-01A-11D-2310-10 TCGA-KN-8428-11A-01D-2311-10 g.chr3:182681755A>G c.303T>C c.(301-303)agT>agC p.S101S KIPAN 3 182683307 182683336 + Splice_Site DEL TCACAAGCAAGCACTCACCTTTGTATCTAT TCACAAGCAAGCACTCACCTTTGTATCTAT - TCGA-CJ-5679-01A-11D-1534-10 TCGA-CJ-5679-11A-01D-1535-10 g.chr3:182683307_182683336delTCACAAGCAAGCACTCACCTTTGTATCTAT c.209_221delATAGATACAAAGGTGAGTGCTTGCTTGTGA c.(208-222)aatagatacaaaggt>at p.NRYKG70del KIRC 3 182683307 182683336 + Splice_Site DEL TCACAAGCAAGCACTCACCTTTGTATCTAT TCACAAGCAAGCACTCACCTTTGTATCTAT - TCGA-CJ-5679-01A-11D-1534-10 TCGA-CJ-5679-11A-01D-1535-10 g.chr3:182683307_182683336delTCACAAGCAAGCACTCACCTTTGTATCTAT c.209_221delATAGATACAAAGGTGAGTGCTTGCTTGTGA c.(208-222)aatagatacaaaggt>at p.NRYKG70del LGG 3 182683487 182683487 + Nonsense_Mutation SNP G G A TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:182683487G>A c.58C>T c.(58-60)Caa>Taa p.Q20* LIHC 3 182665120 182665120 + Silent SNP T T C TCGA-BC-A10W-01A-11D-A12Z-10 TCGA-BC-A10W-11A-11D-A12Z-10 g.chr3:182665120T>C c.606A>G c.(604-606)gaA>gaG p.E202E LIHC 3 182665124 182665124 + Splice_Site SNP T T C TCGA-DD-A39Y-01A-11D-A20W-10 TCGA-DD-A39Y-11A-11D-A20W-10 g.chr3:182665124T>C c.e6-2 LIHC 3 182665421 182665421 + Splice_Site SNP C C A TCGA-2Y-A9H1-01A-11D-A382-10 TCGA-2Y-A9H1-10A-01D-A385-10 g.chr3:182665421C>A c.e5-1 LUAD 3 182662962 182662962 + Splice_Site SNP C C A TCGA-44-7670-01A-11D-2063-08 TCGA-44-7670-10A-01D-2063-08 g.chr3:182662962C>A c.e7-1 LUAD 3 182665025 182665025 + Splice_Site SNP C C A TCGA-17-Z031-01A-01W-0746-08 TCGA-17-Z031-11A-01W-0746-08 g.chr3:182665025C>A c.e6+1 LUAD 3 182681763 182681763 + Missense_Mutation SNP T T C TCGA-44-2656-01A-02D-0969-08 TCGA-44-2656-10A-01D-0969-08 g.chr3:182681763T>C c.295A>G c.(295-297)Agc>Ggc p.S99G LUAD 3 182683451 182683451 + Missense_Mutation SNP G G C TCGA-91-6830-01A-11D-1945-08 TCGA-91-6830-11A-01D-1945-08 g.chr3:182683451G>C c.94C>G c.(94-96)Caa>Gaa p.Q32E LUSC 3 182679086 182679086 + Nonsense_Mutation SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr3:182679086C>A c.448G>T c.(448-450)Gaa>Taa p.E150* LUSC 3 182679095 182679095 + Nonsense_Mutation SNP C C A TCGA-85-6561-01A-11D-1817-08 TCGA-85-6561-10A-01D-1817-08 g.chr3:182679095C>A c.439G>T c.(439-441)Gaa>Taa p.E147* LUSC 3 182679132 182679132 + Missense_Mutation SNP T T C TCGA-18-3411-01A-01D-0983-08 TCGA-18-3411-11A-01D-0983-08 g.chr3:182679132T>C c.402A>G c.(400-402)atA>atG p.I134M LUSC 3 182681668 182681668 + Splice_Site SNP C C G TCGA-18-4721-01A-01D-1441-08 TCGA-18-4721-11A-01D-1441-08 g.chr3:182681668C>G c.e3+1 LUSC 3 182683507 182683507 + Missense_Mutation SNP C C T TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 g.chr3:182683507C>T c.38G>A c.(37-39)cGt>cAt p.R13H OV 3 182681755 182681755 + Missense_Mutation SNP A A C TCGA-59-2352-01A-01W-0799-08 TCGA-59-2352-10A-01W-0800-08 g.chr3:182681755A>C c.303T>G c.(301-303)agT>agG p.S101R READ 3 182681755 182681755 + Silent SNP A A G TCGA-DC-6683-01A-11D-1826-10 TCGA-DC-6683-10A-01D-1826-10 g.chr3:182681755A>G c.303T>C c.(301-303)agT>agC p.S101S READ 3 182683508 182683508 + Missense_Mutation SNP G G A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:182683508G>A c.37C>T c.(37-39)Cgt>Tgt p.R13C SKCM 3 182662918 182662918 + Silent SNP G G A TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr3:182662918G>A c.744C>T c.(742-744)cgC>cgT p.R248R SKCM 3 182679059 182679059 + Missense_Mutation SNP G G T TCGA-DA-A1I1-06A-12D-A196-08 TCGA-DA-A1I1-10A-01D-A198-08 g.chr3:182679059G>T c.475C>A c.(475-477)Cag>Aag p.Q159K SKCM 3 182683387 182683387 + Missense_Mutation SNP C C T TCGA-EE-A3J7-06A-11D-A20D-08 TCGA-EE-A3J7-10A-01D-A20D-08 g.chr3:182683387C>T c.158G>A c.(157-159)cGa>cAa p.R53Q SKCM 3 182683508 182683508 + Missense_Mutation SNP G G A TCGA-ER-A193-06A-12D-A197-08 TCGA-ER-A193-10A-01D-A199-08 g.chr3:182683508G>A c.37C>T c.(37-39)Cgt>Tgt p.R13C

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 3 182681826 182681826 single base substitution C A exon_variant BLCA-US 3 182681826 182681826 single base substitution C A stop_gained E63* 187G>T BLCA-US 3 182681826 182681826 single base substitution C A stop_gained E78* 232G>T BLCA-US 3 182683333 182683333 single base substitution C G intron_variant BLCA-US 3 182683333 182683333 single base substitution C G missense_variant R56T 167G>C BLCA-US 3 182683333 182683333 single base substitution C G missense_variant R71T 212G>C BOCA-FR 3 182679269 182679269 single base substitution T A downstream_gene_variant BOCA-FR 3 182679269 182679269 single base substitution T A intron_variant BRCA-EU 3 182650939 182650939 deletion of <=200bp G - downstream_gene_variant BRCA-EU 3 182651195 182651195 single base substitution A G downstream_gene_variant BRCA-EU 3 182652117 182652117 single base substitution A T downstream_gene_variant BRCA-EU 3 182652268 182652268 insertion of <=200bp - A downstream_gene_variant BRCA-EU 3 182652480 182652480 single base substitution C A downstream_gene_variant BRCA-EU 3 182652794 182652794 single base substitution A G downstream_gene_variant BRCA-EU 3 182654310 182654310 single base substitution G C downstream_gene_variant BRCA-EU 3 182655095 182655095 single base substitution C G downstream_gene_variant BRCA-EU 3 182657248 182657248 insertion of <=200bp - T 3_prime_UTR_variant BRCA-EU 3 182658689 182658689 single base substitution T A 3_prime_UTR_variant BRCA-EU 3 182658689 182658689 single base substitution T A downstream_gene_variant BRCA-EU 3 182659351 182659351 insertion of <=200bp - A 3_prime_UTR_variant BRCA-EU 3 182659351 182659351 insertion of <=200bp - A downstream_gene_variant BRCA-EU 3 182661102 182661102 single base substitution A G 3_prime_UTR_variant BRCA-EU 3 182661102 182661102 single base substitution A G downstream_gene_variant BRCA-EU 3 182663460 182663460 single base substitution G T intron_variant BRCA-EU 3 182664609 182664609 deletion of <=200bp A - intron_variant BRCA-EU 3 182664982 182664982 single base substitution A C intron_variant BRCA-EU 3 182668702 182668702 single base substitution G T intron_variant BRCA-EU 3 182672029 182672029 single base substitution T A intron_variant BRCA-EU 3 182672075 182672075 single base substitution C G intron_variant BRCA-EU 3 182673141 182673142 deletion of <=200bp AT - intron_variant BRCA-EU 3 182674440 182674440 single base substitution C A downstream_gene_variant BRCA-EU 3 182674440 182674440 single base substitution C A intron_variant BRCA-EU 3 182676360 182676360 single base substitution G A downstream_gene_variant BRCA-EU 3 182676360 182676360 single base substitution G A intron_variant BRCA-EU 3 182676410 182676410 single base substitution A C downstream_gene_variant BRCA-EU 3 182676410 182676410 single base substitution A C intron_variant BRCA-EU 3 182676732 182676732 single base substitution T A downstream_gene_variant BRCA-EU 3 182676732 182676732 single base substitution T A intron_variant BRCA-EU 3 182680043 182680043 single base substitution C T downstream_gene_variant BRCA-EU 3 182680043 182680043 single base substitution C T intron_variant BRCA-EU 3 182680608 182680608 single base substitution G A downstream_gene_variant BRCA-EU 3 182680608 182680608 single base substitution G A intron_variant BRCA-EU 3 182680637 182680637 single base substitution C T downstream_gene_variant BRCA-EU 3 182680637 182680637 single base substitution C T intron_variant BRCA-EU 3 182681284 182681284 single base substitution C T downstream_gene_variant BRCA-EU 3 182681284 182681284 single base substitution C T intron_variant BRCA-EU 3 182682620 182682620 single base substitution G C intron_variant BRCA-EU 3 182684035 182684035 single base substitution G C intron_variant BRCA-EU 3 182684049 182684049 single base substitution G A intron_variant BRCA-EU 3 182686476 182686476 single base substitution C T intron_variant BRCA-EU 3 182687108 182687108 single base substitution G C intron_variant BRCA-EU 3 182687568 182687568 single base substitution G C intron_variant BRCA-EU 3 182688367 182688367 single base substitution T A intron_variant BRCA-EU 3 182688961 182688961 single base substitution A T intron_variant BRCA-EU 3 182689144 182689161 deletion of <=200bp GGAGTTCAAGACCAGCCT - intron_variant BRCA-EU 3 182689614 182689614 single base substitution G A intron_variant BRCA-EU 3 182690084 182690084 single base substitution T C intron_variant BRCA-EU 3 182690665 182690665 single base substitution G A intron_variant BRCA-EU 3 182690731 182690731 single base substitution G T intron_variant BRCA-EU 3 182690831 182690831 deletion of <=200bp A - intron_variant BRCA-EU 3 182690840 182690840 single base substitution G A intron_variant BRCA-EU 3 182691194 182691194 single base substitution T A intron_variant BRCA-EU 3 182693546 182693546 single base substitution G A intron_variant BRCA-EU 3 182694059 182694059 insertion of <=200bp - A intron_variant BRCA-EU 3 182694846 182694846 single base substitution A C intron_variant BRCA-EU 3 182694966 182694966 single base substitution G A intron_variant BRCA-EU 3 182696330 182696330 deletion of <=200bp T - intron_variant BRCA-EU 3 182698068 182698068 single base substitution C T intron_variant BRCA-EU 3 182698068 182698068 single base substitution C T upstream_gene_variant BRCA-EU 3 182698222 182698222 single base substitution C T intron_variant BRCA-EU 3 182698222 182698222 single base substitution C T upstream_gene_variant BRCA-EU 3 182698257 182698257 single base substitution G C intron_variant BRCA-EU 3 182698257 182698257 single base substitution G C upstream_gene_variant BRCA-EU 3 182698697 182698697 single base substitution G T 5_prime_UTR_variant BRCA-EU 3 182698697 182698697 single base substitution G T intron_variant BRCA-EU 3 182698697 182698697 single base substitution G T upstream_gene_variant BRCA-EU 3 182699833 182699833 single base substitution G A intron_variant BRCA-EU 3 182699833 182699833 single base substitution G A upstream_gene_variant BRCA-EU 3 182701275 182701275 single base substitution G A intron_variant BRCA-EU 3 182701275 182701275 single base substitution G A upstream_gene_variant BRCA-EU 3 182701660 182701660 single base substitution T A intron_variant BRCA-EU 3 182701660 182701660 single base substitution T A upstream_gene_variant BRCA-EU 3 182702211 182702211 single base substitution G A intron_variant BRCA-EU 3 182702211 182702211 single base substitution G A upstream_gene_variant BRCA-EU 3 182703032 182703032 single base substitution G A intron_variant BRCA-EU 3 182703032 182703032 single base substitution G A upstream_gene_variant BRCA-EU 3 182703318 182703318 single base substitution G A 5_prime_UTR_variant BRCA-EU 3 182703318 182703318 single base substitution G A intron_variant BRCA-EU 3 182703318 182703318 single base substitution G A upstream_gene_variant BRCA-EU 3 182704067 182704067 single base substitution T C upstream_gene_variant BRCA-EU 3 182704211 182704211 single base substitution A G upstream_gene_variant BRCA-EU 3 182704390 182704390 single base substitution G T upstream_gene_variant BRCA-EU 3 182705018 182705018 single base substitution T A upstream_gene_variant BRCA-EU 3 182706018 182706018 deletion of <=200bp A - upstream_gene_variant BRCA-EU 3 182707558 182707558 single base substitution G A upstream_gene_variant BRCA-EU 3 182707905 182707905 single base substitution T A upstream_gene_variant BRCA-EU 3 182708121 182708121 single base substitution A G upstream_gene_variant BRCA-FR 3 182662191 182662191 single base substitution G A 3_prime_UTR_variant BRCA-FR 3 182662191 182662191 single base substitution G A downstream_gene_variant BRCA-FR 3 182684049 182684049 single base substitution G A intron_variant BRCA-FR 3 182690731 182690731 single base substitution G T intron_variant BRCA-FR 3 182694966 182694966 single base substitution G A intron_variant BRCA-FR 3 182696527 182696527 single base substitution C A intron_variant BRCA-FR 3 182698546 182698546 single base substitution G A intron_variant BRCA-FR 3 182698546 182698546 single base substitution G A upstream_gene_variant BRCA-FR 3 182703032 182703032 single base substitution G A intron_variant BRCA-FR 3 182703032 182703032 single base substitution G A upstream_gene_variant BRCA-FR 3 182703079 182703079 single base substitution G C intron_variant BRCA-FR 3 182703079 182703079 single base substitution G C upstream_gene_variant BRCA-FR 3 182703318 182703318 single base substitution G A 5_prime_UTR_variant BRCA-FR 3 182703318 182703318 single base substitution G A intron_variant BRCA-FR 3 182703318 182703318 single base substitution G A upstream_gene_variant BRCA-FR 3 182704211 182704211 single base substitution A G upstream_gene_variant BRCA-UK 3 182652794 182652794 single base substitution A G downstream_gene_variant BRCA-UK 3 182658473 182658473 single base substitution C T 3_prime_UTR_variant BRCA-UK 3 182658473 182658473 single base substitution C T downstream_gene_variant BRCA-US 3 182665361 182665361 single base substitution C T 3_prime_UTR_variant BRCA-US 3 182665361 182665361 single base substitution C T missense_variant D179N 535G>A BRCA-US 3 182665361 182665361 single base substitution C T missense_variant D194N 580G>A BRCA-US 3 182665365 182665365 single base substitution G C 3_prime_UTR_variant BRCA-US 3 182665365 182665365 single base substitution G C missense_variant F177L 531C>G BRCA-US 3 182665365 182665365 single base substitution G C missense_variant F192L 576C>G BRCA-US 3 182683349 182683349 single base substitution C A intron_variant BRCA-US 3 182683349 182683349 single base substitution C A stop_gained E51* 151G>T BRCA-US 3 182683349 182683349 single base substitution C A stop_gained E66* 196G>T BTCA-JP 3 182662920 182662920 single base substitution G A 3_prime_UTR_variant BTCA-JP 3 182662920 182662920 single base substitution G A missense_variant R233C 697C>T BTCA-JP 3 182662920 182662920 single base substitution G A missense_variant R248C 742C>T BTCA-JP 3 182665492 182665492 insertion of <=200bp - A intron_variant CLLE-ES 3 182689917 182689917 single base substitution A G intron_variant COAD-US 3 182681765 182681765 single base substitution G A 3_prime_UTR_variant COAD-US 3 182681765 182681765 single base substitution G A downstream_gene_variant COAD-US 3 182681765 182681765 single base substitution G A missense_variant A83V 248C>T COAD-US 3 182681765 182681765 single base substitution G A missense_variant A98V 293C>T COCA-CN 3 182665289 182665290 deletion of <=200bp AT - intron_variant COCA-CN 3 182679076 182679076 single base substitution C T 3_prime_UTR_variant COCA-CN 3 182679076 182679076 single base substitution C T downstream_gene_variant COCA-CN 3 182679076 182679076 single base substitution C T missense_variant R138Q 413G>A COCA-CN 3 182679076 182679076 single base substitution C T missense_variant R153Q 458G>A COCA-CN 3 182681712 182681712 single base substitution C T 3_prime_UTR_variant COCA-CN 3 182681712 182681712 single base substitution C T downstream_gene_variant COCA-CN 3 182681712 182681712 single base substitution C T missense_variant E101K 301G>A COCA-CN 3 182681712 182681712 single base substitution C T missense_variant E116K 346G>A COCA-CN 3 182681758 182681758 single base substitution A C 3_prime_UTR_variant COCA-CN 3 182681758 182681758 single base substitution A C downstream_gene_variant COCA-CN 3 182681758 182681758 single base substitution A C missense_variant I100M 300T>G COCA-CN 3 182681758 182681758 single base substitution A C missense_variant I85M 255T>G COCA-CN 3 182699020 182699020 single base substitution C T intron_variant COCA-CN 3 182699020 182699020 single base substitution C T upstream_gene_variant ESAD-UK 3 182651337 182651337 single base substitution C G downstream_gene_variant ESAD-UK 3 182652103 182652103 single base substitution G A downstream_gene_variant ESAD-UK 3 182652674 182652674 single base substitution C T downstream_gene_variant ESAD-UK 3 182653252 182653252 single base substitution G T downstream_gene_variant ESAD-UK 3 182655731 182655731 single base substitution G C downstream_gene_variant ESAD-UK 3 182659685 182659685 single base substitution T A 3_prime_UTR_variant ESAD-UK 3 182659685 182659685 single base substitution T A downstream_gene_variant ESAD-UK 3 182661614 182661614 single base substitution T A 3_prime_UTR_variant ESAD-UK 3 182661614 182661614 single base substitution T A downstream_gene_variant ESAD-UK 3 182661704 182661704 single base substitution T C 3_prime_UTR_variant ESAD-UK 3 182661704 182661704 single base substitution T C downstream_gene_variant ESAD-UK 3 182663076 182663076 single base substitution T C intron_variant ESAD-UK 3 182664206 182664206 single base substitution G A intron_variant ESAD-UK 3 182665220 182665220 single base substitution T C intron_variant ESAD-UK 3 182666729 182666729 single base substitution G A intron_variant ESAD-UK 3 182668225 182668225 single base substitution C T intron_variant ESAD-UK 3 182669255 182669255 single base substitution C T intron_variant ESAD-UK 3 182673579 182673579 single base substitution G A intron_variant ESAD-UK 3 182674671 182674671 single base substitution G A downstream_gene_variant ESAD-UK 3 182674671 182674671 single base substitution G A intron_variant ESAD-UK 3 182675625 182675625 single base substitution C T downstream_gene_variant ESAD-UK 3 182675625 182675625 single base substitution C T intron_variant ESAD-UK 3 182676285 182676285 insertion of <=200bp - G downstream_gene_variant ESAD-UK 3 182676285 182676285 insertion of <=200bp - G intron_variant ESAD-UK 3 182678842 182678842 single base substitution T G downstream_gene_variant ESAD-UK 3 182678842 182678842 single base substitution T G intron_variant ESAD-UK 3 182679449 182679449 single base substitution A C downstream_gene_variant ESAD-UK 3 182679449 182679449 single base substitution A C intron_variant ESAD-UK 3 182681110 182681110 single base substitution C T downstream_gene_variant ESAD-UK 3 182681110 182681110 single base substitution C T intron_variant ESAD-UK 3 182685865 182685865 insertion of <=200bp - T intron_variant ESAD-UK 3 182686923 182686923 single base substitution A C intron_variant ESAD-UK 3 182687887 182687887 insertion of <=200bp - T intron_variant ESAD-UK 3 182690638 182690638 single base substitution C A intron_variant ESAD-UK 3 182692590 182692590 single base substitution G C intron_variant ESAD-UK 3 182697389 182697389 insertion of <=200bp - TC intron_variant ESAD-UK 3 182697433 182697433 single base substitution A T intron_variant ESAD-UK 3 182698083 182698083 single base substitution C G intron_variant ESAD-UK 3 182698083 182698083 single base substitution C G upstream_gene_variant ESAD-UK 3 182704773 182704773 single base substitution G T upstream_gene_variant ESAD-UK 3 182705814 182705814 single base substitution C T upstream_gene_variant ESAD-UK 3 182706546 182706546 single base substitution A G upstream_gene_variant ESAD-UK 3 182708566 182708566 single base substitution G T upstream_gene_variant KIRC-US 3 182683307 182683336 deletion of <=200bp TCACAAGCAAGCACTCACCTTTGTATCTAT - intron_variant KIRC-US 3 182683307 182683336 deletion of <=200bp TCACAAGCAAGCACTCACCTTTGTATCTAT - splice_donor_variant LAML-KR 3 182673259 182673259 single base substitution C T intron_variant LAML-KR 3 182706591 182706591 single base substitution G A upstream_gene_variant LICA-FR 3 182653432 182653432 single base substitution T C downstream_gene_variant LICA-FR 3 182654892 182654892 single base substitution T C downstream_gene_variant LICA-FR 3 182681835 182681835 single base substitution G C missense_variant P60A 178C>G LICA-FR 3 182681835 182681835 single base substitution G C missense_variant P75A 223C>G LICA-FR 3 182681835 182681835 single base substitution G C splice_region_variant LIHC-US 3 182665124 182665124 single base substitution T C splice_acceptor_variant LINC-JP 3 182672189 182672189 single base substitution G A intron_variant LINC-JP 3 182680031 182680031 single base substitution A G downstream_gene_variant LINC-JP 3 182680031 182680031 single base substitution A G intron_variant LINC-JP 3 182692946 182692946 single base substitution A T intron_variant LINC-JP 3 182705481 182705481 single base substitution C G upstream_gene_variant LIRI-JP 3 182652165 182652165 single base substitution A T downstream_gene_variant LIRI-JP 3 182654244 182654244 single base substitution T C downstream_gene_variant LIRI-JP 3 182657467 182657467 single base substitution G A 3_prime_UTR_variant LIRI-JP 3 182661927 182661927 single base substitution T C 3_prime_UTR_variant LIRI-JP 3 182661927 182661927 single base substitution T C downstream_gene_variant LIRI-JP 3 182662929 182662929 single base substitution C A 3_prime_UTR_variant LIRI-JP 3 182662929 182662929 single base substitution C A stop_gained E230* 688G>T LIRI-JP 3 182662929 182662929 single base substitution C A stop_gained E245* 733G>T LIRI-JP 3 182663802 182663802 single base substitution G C intron_variant LIRI-JP 3 182664012 182664012 single base substitution G A intron_variant LIRI-JP 3 182664380 182664380 single base substitution A C intron_variant LIRI-JP 3 182664435 182664435 single base substitution T C intron_variant LIRI-JP 3 182665756 182665756 single base substitution C G intron_variant LIRI-JP 3 182666480 182666480 single base substitution T A intron_variant LIRI-JP 3 182668651 182668651 single base substitution C A intron_variant LIRI-JP 3 182671158 182671161 deletion of <=200bp CAGA - intron_variant LIRI-JP 3 182671598 182671598 single base substitution T C intron_variant LIRI-JP 3 182673117 182673117 single base substitution T C intron_variant LIRI-JP 3 182674661 182674661 single base substitution T C downstream_gene_variant LIRI-JP 3 182674661 182674661 single base substitution T C intron_variant LIRI-JP 3 182675833 182675833 single base substitution C T downstream_gene_variant LIRI-JP 3 182675833 182675833 single base substitution C T intron_variant LIRI-JP 3 182677629 182677629 single base substitution T C downstream_gene_variant LIRI-JP 3 182677629 182677629 single base substitution T C intron_variant LIRI-JP 3 182677737 182677737 single base substitution T C downstream_gene_variant LIRI-JP 3 182677737 182677737 single base substitution T C intron_variant LIRI-JP 3 182678660 182678665 deletion of <=200bp CTATTT - downstream_gene_variant LIRI-JP 3 182678660 182678665 deletion of <=200bp CTATTT - intron_variant LIRI-JP 3 182681820 182681820 single base substitution T C exon_variant LIRI-JP 3 182681820 182681820 single base substitution T C missense_variant K65E 193A>G LIRI-JP 3 182681820 182681820 single base substitution T C missense_variant K80E 238A>G LIRI-JP 3 182683129 182683129 single base substitution T C intron_variant LIRI-JP 3 182683363 182683363 single base substitution T A intron_variant LIRI-JP 3 182683363 182683363 single base substitution T A missense_variant D46V 137A>T LIRI-JP 3 182683363 182683363 single base substitution T A missense_variant D61V 182A>T LIRI-JP 3 182684490 182684490 single base substitution T C intron_variant LIRI-JP 3 182687336 182687336 single base substitution T C intron_variant LIRI-JP 3 182688434 182688434 single base substitution C A intron_variant LIRI-JP 3 182688674 182688674 single base substitution C A intron_variant LIRI-JP 3 182688684 182688684 single base substitution A T intron_variant LIRI-JP 3 182690581 182690581 single base substitution C A intron_variant LIRI-JP 3 182691876 182691876 single base substitution C T intron_variant LIRI-JP 3 182692217 182692217 single base substitution T C intron_variant LIRI-JP 3 182692925 182692925 single base substitution C T intron_variant LIRI-JP 3 182696493 182696493 single base substitution T C intron_variant LIRI-JP 3 182697468 182697469 deletion of <=200bp AA - intron_variant LIRI-JP 3 182705806 182705806 single base substitution T A upstream_gene_variant LUSC-KR 3 182655567 182655567 single base substitution G T downstream_gene_variant LUSC-KR 3 182661952 182661952 single base substitution C T 3_prime_UTR_variant LUSC-KR 3 182661952 182661952 single base substitution C T downstream_gene_variant LUSC-KR 3 182664873 182664873 single base substitution G C intron_variant LUSC-KR 3 182668738 182668738 single base substitution G A intron_variant LUSC-KR 3 182668770 182668770 single base substitution G A intron_variant LUSC-KR 3 182671501 182671501 single base substitution G A intron_variant LUSC-KR 3 182673190 182673190 single base substitution C A intron_variant LUSC-KR 3 182673196 182673196 single base substitution C T intron_variant LUSC-KR 3 182673259 182673259 single base substitution C T intron_variant LUSC-KR 3 182679969 182679969 single base substitution G C downstream_gene_variant LUSC-KR 3 182679969 182679969 single base substitution G C intron_variant LUSC-KR 3 182680088 182680088 single base substitution T C downstream_gene_variant LUSC-KR 3 182680088 182680088 single base substitution T C intron_variant LUSC-KR 3 182680869 182680869 single base substitution C T downstream_gene_variant LUSC-KR 3 182680869 182680869 single base substitution C T intron_variant LUSC-KR 3 182681740 182681740 single base substitution C T 3_prime_UTR_variant LUSC-KR 3 182681740 182681740 single base substitution C T downstream_gene_variant LUSC-KR 3 182681740 182681740 single base substitution C T synonymous_variant A106A 318G>A LUSC-KR 3 182681740 182681740 single base substitution C T synonymous_variant A91A 273G>A LUSC-KR 3 182681853 182681853 single base substitution T C intron_variant LUSC-KR 3 182684053 182684053 single base substitution C T intron_variant LUSC-KR 3 182685078 182685078 single base substitution C G intron_variant LUSC-KR 3 182686800 182686800 single base substitution G A intron_variant LUSC-KR 3 182688579 182688579 single base substitution C A intron_variant LUSC-KR 3 182689755 182689755 single base substitution G C intron_variant LUSC-KR 3 182689756 182689756 single base substitution C A intron_variant LUSC-KR 3 182689862 182689862 single base substitution G T intron_variant LUSC-KR 3 182690063 182690063 single base substitution G A intron_variant LUSC-KR 3 182690483 182690483 single base substitution C A intron_variant LUSC-KR 3 182691277 182691277 single base substitution A G intron_variant LUSC-KR 3 182695875 182695875 single base substitution G T intron_variant LUSC-KR 3 182697779 182697779 single base substitution G T intron_variant LUSC-KR 3 182698368 182698368 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant LUSC-KR 3 182698368 182698368 single base substitution G A intron_variant LUSC-KR 3 182698368 182698368 single base substitution G A upstream_gene_variant LUSC-KR 3 182702889 182702889 single base substitution T C intron_variant LUSC-KR 3 182702889 182702889 single base substitution T C upstream_gene_variant LUSC-KR 3 182704899 182704899 single base substitution G C upstream_gene_variant LUSC-KR 3 182707085 182707085 single base substitution G A upstream_gene_variant LUSC-KR 3 182707086 182707086 single base substitution G A upstream_gene_variant LUSC-KR 3 182708161 182708161 single base substitution C T upstream_gene_variant LUSC-KR 3 182708419 182708419 single base substitution C T upstream_gene_variant LUSC-US 3 182679086 182679086 single base substitution C A 3_prime_UTR_variant LUSC-US 3 182679086 182679086 single base substitution C A downstream_gene_variant LUSC-US 3 182679086 182679086 single base substitution C A stop_gained E135* 403G>T LUSC-US 3 182679086 182679086 single base substitution C A stop_gained E150* 448G>T LUSC-US 3 182679095 182679095 single base substitution C A 3_prime_UTR_variant LUSC-US 3 182679095 182679095 single base substitution C A downstream_gene_variant LUSC-US 3 182679095 182679095 single base substitution C A stop_gained E132* 394G>T LUSC-US 3 182679095 182679095 single base substitution C A stop_gained E147* 439G>T LUSC-US 3 182679132 182679132 single base substitution T C 3_prime_UTR_variant LUSC-US 3 182679132 182679132 single base substitution T C downstream_gene_variant LUSC-US 3 182679132 182679132 single base substitution T C missense_variant I119M 357A>G LUSC-US 3 182679132 182679132 single base substitution T C missense_variant I134M 402A>G LUSC-US 3 182681668 182681668 single base substitution C G downstream_gene_variant LUSC-US 3 182681668 182681668 single base substitution C G splice_donor_variant LUSC-US 3 182683507 182683507 single base substitution C T 5_prime_UTR_variant LUSC-US 3 182683507 182683507 single base substitution C T exon_variant LUSC-US 3 182683507 182683507 single base substitution C T missense_variant R13H 38G>A MALY-DE 3 182668567 182668567 single base substitution C A intron_variant MALY-DE 3 182691936 182691936 single base substitution A G intron_variant MALY-DE 3 182692089 182692089 single base substitution A G intron_variant MALY-DE 3 182693483 182693483 single base substitution A C intron_variant MALY-DE 3 182693883 182693883 single base substitution G A intron_variant MALY-DE 3 182699514 182699514 single base substitution T A intron_variant MALY-DE 3 182699514 182699514 single base substitution T A upstream_gene_variant MALY-DE 3 182702571 182702571 single base substitution G T intron_variant MALY-DE 3 182702571 182702571 single base substitution G T upstream_gene_variant MALY-DE 3 182707734 182707734 insertion of <=200bp - T upstream_gene_variant MELA-AU 3 182651156 182651156 single base substitution G A downstream_gene_variant MELA-AU 3 182651599 182651599 single base substitution G A downstream_gene_variant MELA-AU 3 182651865 182651865 single base substitution G C downstream_gene_variant MELA-AU 3 182651977 182651977 single base substitution A G downstream_gene_variant MELA-AU 3 182652215 182652215 single base substitution G A downstream_gene_variant MELA-AU 3 182652708 182652708 single base substitution G A downstream_gene_variant MELA-AU 3 182652764 182652764 single base substitution A C downstream_gene_variant MELA-AU 3 182653997 182653997 single base substitution A T downstream_gene_variant MELA-AU 3 182654210 182654210 single base substitution G A downstream_gene_variant MELA-AU 3 182654435 182654435 deletion of <=200bp C - downstream_gene_variant MELA-AU 3 182654829 182654829 single base substitution G A downstream_gene_variant MELA-AU 3 182654914 182654914 single base substitution G A downstream_gene_variant MELA-AU 3 182654980 182654980 single base substitution T G downstream_gene_variant MELA-AU 3 182655315 182655315 single base substitution T A downstream_gene_variant MELA-AU 3 182655546 182655546 single base substitution T G downstream_gene_variant MELA-AU 3 182656293 182656293 single base substitution G A 3_prime_UTR_variant MELA-AU 3 182656981 182656981 single base substitution G A 3_prime_UTR_variant MELA-AU 3 182657076 182657076 single base substitution G A 3_prime_UTR_variant MELA-AU 3 182657498 182657498 single base substitution G A 3_prime_UTR_variant MELA-AU 3 182657815 182657815 single base substitution C T 3_prime_UTR_variant MELA-AU 3 182658569 182658569 single base substitution T A 3_prime_UTR_variant MELA-AU 3 182658569 182658569 single base substitution T A downstream_gene_variant MELA-AU 3 182658669 182658669 single base substitution A T 3_prime_UTR_variant MELA-AU 3 182658669 182658669 single base substitution A T downstream_gene_variant MELA-AU 3 182658818 182658818 single base substitution A C 3_prime_UTR_variant MELA-AU 3 182658818 182658818 single base substitution A C downstream_gene_variant MELA-AU 3 182660485 182660485 single base substitution C T 3_prime_UTR_variant MELA-AU 3 182660485 182660485 single base substitution C T downstream_gene_variant MELA-AU 3 182661151 182661151 single base substitution A G 3_prime_UTR_variant MELA-AU 3 182661151 182661151 single base substitution A G downstream_gene_variant MELA-AU 3 182661792 182661792 single base substitution G A 3_prime_UTR_variant MELA-AU 3 182661792 182661792 single base substitution G A downstream_gene_variant MELA-AU 3 182662568 182662568 single base substitution C T 3_prime_UTR_variant MELA-AU 3 182662568 182662568 single base substitution C T downstream_gene_variant MELA-AU 3 182663363 182663363 single base substitution G A intron_variant MELA-AU 3 182663470 182663470 single base substitution G A intron_variant MELA-AU 3 182666429 182666429 single base substitution G A intron_variant MELA-AU 3 182666610 182666610 single base substitution G A intron_variant MELA-AU 3 182666940 182666940 single base substitution G A intron_variant MELA-AU 3 182666941 182666941 single base substitution G A intron_variant MELA-AU 3 182667784 182667784 single base substitution G A intron_variant MELA-AU 3 182668151 182668151 single base substitution G A intron_variant MELA-AU 3 182668263 182668263 single base substitution C T intron_variant MELA-AU 3 182668384 182668384 single base substitution C T intron_variant MELA-AU 3 182668702 182668702 single base substitution G A intron_variant MELA-AU 3 182669247 182669247 single base substitution C T intron_variant MELA-AU 3 182669793 182669793 single base substitution G A intron_variant MELA-AU 3 182670305 182670306 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 182670646 182670646 single base substitution G A intron_variant MELA-AU 3 182670887 182670887 single base substitution G A intron_variant MELA-AU 3 182670892 182670892 single base substitution G A intron_variant MELA-AU 3 182670938 182670939 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 182671634 182671634 single base substitution G A intron_variant MELA-AU 3 182672330 182672330 single base substitution G A intron_variant MELA-AU 3 182672964 182672964 single base substitution G A intron_variant MELA-AU 3 182673096 182673096 single base substitution C T intron_variant MELA-AU 3 182674383 182674383 single base substitution G A downstream_gene_variant MELA-AU 3 182674383 182674383 single base substitution G A intron_variant MELA-AU 3 182674653 182674653 single base substitution G A downstream_gene_variant MELA-AU 3 182674653 182674653 single base substitution G A intron_variant MELA-AU 3 182676427 182676427 single base substitution A T downstream_gene_variant MELA-AU 3 182676427 182676427 single base substitution A T intron_variant MELA-AU 3 182676638 182676638 deletion of <=200bp A - downstream_gene_variant MELA-AU 3 182676638 182676638 deletion of <=200bp A - intron_variant MELA-AU 3 182676643 182676643 single base substitution C T downstream_gene_variant MELA-AU 3 182676643 182676643 single base substitution C T intron_variant MELA-AU 3 182677067 182677067 single base substitution G A downstream_gene_variant MELA-AU 3 182677067 182677067 single base substitution G A intron_variant MELA-AU 3 182677183 182677183 single base substitution C T downstream_gene_variant MELA-AU 3 182677183 182677183 single base substitution C T intron_variant MELA-AU 3 182678025 182678025 single base substitution G A downstream_gene_variant MELA-AU 3 182678025 182678025 single base substitution G A intron_variant MELA-AU 3 182678083 182678083 single base substitution A C downstream_gene_variant MELA-AU 3 182678083 182678083 single base substitution A C intron_variant MELA-AU 3 182678241 182678241 single base substitution C T downstream_gene_variant MELA-AU 3 182678241 182678241 single base substitution C T intron_variant MELA-AU 3 182678510 182678510 single base substitution G A downstream_gene_variant MELA-AU 3 182678510 182678510 single base substitution G A intron_variant MELA-AU 3 182679406 182679406 single base substitution G A downstream_gene_variant MELA-AU 3 182679406 182679406 single base substitution G A intron_variant MELA-AU 3 182680617 182680617 single base substitution G A downstream_gene_variant MELA-AU 3 182680617 182680617 single base substitution G A intron_variant MELA-AU 3 182680754 182680754 single base substitution G A downstream_gene_variant MELA-AU 3 182680754 182680754 single base substitution G A intron_variant MELA-AU 3 182681020 182681020 single base substitution T C downstream_gene_variant MELA-AU 3 182681020 182681020 single base substitution T C intron_variant MELA-AU 3 182681363 182681363 single base substitution G A downstream_gene_variant MELA-AU 3 182681363 182681363 single base substitution G A intron_variant MELA-AU 3 182683414 182683414 single base substitution A T intron_variant MELA-AU 3 182683414 182683414 single base substitution A T missense_variant F29Y 86T>A MELA-AU 3 182683414 182683414 single base substitution A T missense_variant F44Y 131T>A MELA-AU 3 182683554 182683554 single base substitution G A intron_variant MELA-AU 3 182683601 182683601 single base substitution C T intron_variant MELA-AU 3 182683618 182683618 single base substitution C A intron_variant MELA-AU 3 182684026 182684026 single base substitution G A intron_variant MELA-AU 3 182684027 182684027 single base substitution G A intron_variant MELA-AU 3 182684357 182684357 single base substitution G A intron_variant MELA-AU 3 182684671 182684671 single base substitution G A intron_variant MELA-AU 3 182685762 182685762 single base substitution G A intron_variant MELA-AU 3 182685883 182685883 single base substitution G A intron_variant MELA-AU 3 182686169 182686169 single base substitution G A intron_variant MELA-AU 3 182686515 182686516 multiple base substitution (>=2bp and <=200bp) GT AA intron_variant MELA-AU 3 182687178 182687178 single base substitution G A intron_variant MELA-AU 3 182687231 182687231 single base substitution G A intron_variant MELA-AU 3 182687524 182687532 deletion of <=200bp AGCAAAAAA - intron_variant MELA-AU 3 182687637 182687637 single base substitution G A intron_variant MELA-AU 3 182689204 182689204 single base substitution A G intron_variant MELA-AU 3 182689689 182689689 single base substitution G A intron_variant MELA-AU 3 182689799 182689799 single base substitution A G intron_variant MELA-AU 3 182690253 182690253 single base substitution T G intron_variant MELA-AU 3 182690264 182690264 single base substitution C T intron_variant MELA-AU 3 182690464 182690464 single base substitution G A intron_variant MELA-AU 3 182691305 182691305 single base substitution A T intron_variant MELA-AU 3 182691365 182691365 single base substitution G A intron_variant MELA-AU 3 182692118 182692119 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 182692181 182692181 single base substitution C T intron_variant MELA-AU 3 182692288 182692288 single base substitution G A intron_variant MELA-AU 3 182692320 182692320 single base substitution G A intron_variant MELA-AU 3 182692551 182692551 single base substitution T A intron_variant MELA-AU 3 182692963 182692963 single base substitution A G intron_variant MELA-AU 3 182693925 182693925 single base substitution G A intron_variant MELA-AU 3 182694899 182694899 single base substitution G A intron_variant MELA-AU 3 182695295 182695295 single base substitution G A intron_variant MELA-AU 3 182695363 182695363 single base substitution A G intron_variant MELA-AU 3 182695637 182695637 single base substitution G A intron_variant MELA-AU 3 182695643 182695643 single base substitution C T intron_variant MELA-AU 3 182695937 182695937 single base substitution G A intron_variant MELA-AU 3 182696175 182696175 single base substitution C T intron_variant MELA-AU 3 182696812 182696812 single base substitution T C intron_variant MELA-AU 3 182697146 182697146 single base substitution C T intron_variant MELA-AU 3 182697206 182697206 single base substitution A T intron_variant MELA-AU 3 182697995 182697995 single base substitution C T intron_variant MELA-AU 3 182697995 182697995 single base substitution C T upstream_gene_variant MELA-AU 3 182698760 182698760 single base substitution A G intron_variant MELA-AU 3 182698760 182698760 single base substitution A G upstream_gene_variant MELA-AU 3 182699783 182699783 single base substitution G A intron_variant MELA-AU 3 182699783 182699783 single base substitution G A upstream_gene_variant MELA-AU 3 182700361 182700361 single base substitution T A intron_variant MELA-AU 3 182700361 182700361 single base substitution T A upstream_gene_variant MELA-AU 3 182702293 182702293 single base substitution C T intron_variant MELA-AU 3 182702293 182702293 single base substitution C T upstream_gene_variant MELA-AU 3 182702393 182702393 single base substitution C T intron_variant MELA-AU 3 182702393 182702393 single base substitution C T upstream_gene_variant MELA-AU 3 182702503 182702503 single base substitution C T intron_variant MELA-AU 3 182702503 182702503 single base substitution C T upstream_gene_variant MELA-AU 3 182703107 182703107 single base substitution C T intron_variant MELA-AU 3 182703107 182703107 single base substitution C T upstream_gene_variant MELA-AU 3 182703244 182703244 single base substitution C T intron_variant MELA-AU 3 182703244 182703244 single base substitution C T upstream_gene_variant MELA-AU 3 182703783 182703783 single base substitution C T upstream_gene_variant MELA-AU 3 182703804 182703804 single base substitution C T upstream_gene_variant MELA-AU 3 182704455 182704457 deletion of <=200bp CTC - upstream_gene_variant MELA-AU 3 182704721 182704721 single base substitution C T upstream_gene_variant MELA-AU 3 182704843 182704843 single base substitution G A upstream_gene_variant MELA-AU 3 182705714 182705715 multiple base substitution (>=2bp and <=200bp) AA TC upstream_gene_variant MELA-AU 3 182705717 182705717 single base substitution A T upstream_gene_variant MELA-AU 3 182705748 182705748 single base substitution G A upstream_gene_variant MELA-AU 3 182705975 182705975 single base substitution G A upstream_gene_variant MELA-AU 3 182706340 182706340 single base substitution G A upstream_gene_variant MELA-AU 3 182706858 182706858 single base substitution C A upstream_gene_variant MELA-AU 3 182706946 182706946 single base substitution G A upstream_gene_variant MELA-AU 3 182707060 182707060 single base substitution C T upstream_gene_variant MELA-AU 3 182707701 182707701 single base substitution C T upstream_gene_variant MELA-AU 3 182707720 182707720 single base substitution G A upstream_gene_variant MELA-AU 3 182707919 182707919 single base substitution G C upstream_gene_variant MELA-AU 3 182708091 182708091 single base substitution T C upstream_gene_variant MELA-AU 3 182708133 182708133 single base substitution G A upstream_gene_variant MELA-AU 3 182708693 182708693 single base substitution A G upstream_gene_variant ORCA-IN 3 182651959 182651959 single base substitution T A downstream_gene_variant ORCA-IN 3 182676457 182676457 deletion of <=200bp C - downstream_gene_variant ORCA-IN 3 182676457 182676457 deletion of <=200bp C - intron_variant ORCA-IN 3 182693951 182693951 single base substitution A C intron_variant ORCA-IN 3 182694242 182694242 single base substitution C T intron_variant ORCA-IN 3 182694244 182694244 single base substitution C T intron_variant OV-AU 3 182665572 182665572 single base substitution C A intron_variant OV-AU 3 182670426 182670426 single base substitution C G intron_variant OV-AU 3 182680689 182680689 single base substitution C T downstream_gene_variant OV-AU 3 182680689 182680689 single base substitution C T intron_variant OV-AU 3 182682328 182682328 single base substitution C A intron_variant OV-AU 3 182683341 182683341 single base substitution C T intron_variant OV-AU 3 182683341 182683341 single base substitution C T synonymous_variant L53L 159G>A OV-AU 3 182683341 182683341 single base substitution C T synonymous_variant L68L 204G>A OV-AU 3 182691937 182691937 single base substitution G T intron_variant OV-AU 3 182695814 182695814 single base substitution C G intron_variant OV-AU 3 182703944 182703944 single base substitution A G upstream_gene_variant PACA-AU 3 182675243 182675243 single base substitution T G downstream_gene_variant PACA-AU 3 182675243 182675243 single base substitution T G intron_variant PACA-AU 3 182677415 182677415 single base substitution T A downstream_gene_variant PACA-AU 3 182677415 182677415 single base substitution T A intron_variant PACA-AU 3 182677831 182677831 single base substitution C A downstream_gene_variant PACA-AU 3 182677831 182677831 single base substitution C A intron_variant PACA-AU 3 182678203 182678203 deletion of <=200bp C - downstream_gene_variant PACA-AU 3 182678203 182678203 deletion of <=200bp C - intron_variant PACA-AU 3 182685859 182685859 single base substitution C T intron_variant PACA-AU 3 182689687 182689687 single base substitution G T intron_variant PACA-AU 3 182690302 182690302 single base substitution C T intron_variant PACA-AU 3 182690794 182690794 single base substitution C T intron_variant PACA-AU 3 182691814 182691814 single base substitution C T intron_variant PACA-AU 3 182691915 182691915 single base substitution C G intron_variant PACA-AU 3 182692707 182692707 single base substitution G A intron_variant PACA-AU 3 182696022 182696022 single base substitution G A intron_variant PACA-AU 3 182697538 182697538 single base substitution C A intron_variant PACA-AU 3 182706177 182706177 single base substitution G A upstream_gene_variant PACA-CA 3 182651738 182651738 single base substitution G A downstream_gene_variant PACA-CA 3 182657032 182657032 single base substitution G A 3_prime_UTR_variant PACA-CA 3 182663314 182663314 single base substitution C T intron_variant PACA-CA 3 182664889 182664889 insertion of <=200bp - A intron_variant PACA-CA 3 182669881 182669881 single base substitution C G intron_variant PACA-CA 3 182670523 182670523 single base substitution A C intron_variant PACA-CA 3 182680552 182680552 single base substitution C A downstream_gene_variant PACA-CA 3 182680552 182680552 single base substitution C A intron_variant PACA-CA 3 182687806 182687806 single base substitution C T intron_variant PACA-CA 3 182691765 182691765 single base substitution C T intron_variant PACA-CA 3 182695645 182695645 single base substitution T C intron_variant PACA-CA 3 182697383 182697383 insertion of <=200bp - TTT intron_variant PACA-CA 3 182698905 182698905 deletion of <=200bp C - intron_variant PACA-CA 3 182698905 182698905 deletion of <=200bp C - upstream_gene_variant PACA-CA 3 182707980 182707980 single base substitution G A upstream_gene_variant PAEN-AU 3 182686160 182686160 single base substitution A C intron_variant PAEN-AU 3 182695298 182695298 single base substitution C T intron_variant PAEN-IT 3 182653851 182653851 single base substitution G T downstream_gene_variant PBCA-DE 3 182667011 182667011 single base substitution C T intron_variant PBCA-DE 3 182669450 182669450 single base substitution G A intron_variant PBCA-DE 3 182669473 182669473 single base substitution G A intron_variant PBCA-DE 3 182692666 182692666 deletion of <=200bp T - intron_variant PBCA-DE 3 182693614 182693618 deletion of <=200bp GCTAA - intron_variant PBCA-DE 3 182694003 182694003 insertion of <=200bp - A intron_variant PBCA-DE 3 182704890 182704890 single base substitution T A upstream_gene_variant PBCA-DE 3 182705138 182705138 single base substitution C A upstream_gene_variant PRAD-CA 3 182651636 182651636 single base substitution C A downstream_gene_variant PRAD-CA 3 182660209 182660209 single base substitution G C 3_prime_UTR_variant PRAD-CA 3 182660209 182660209 single base substitution G C downstream_gene_variant PRAD-UK 3 182653068 182653068 single base substitution C G downstream_gene_variant PRAD-UK 3 182660652 182660652 single base substitution C G 3_prime_UTR_variant PRAD-UK 3 182660652 182660652 single base substitution C G downstream_gene_variant PRAD-UK 3 182677141 182677141 single base substitution C T downstream_gene_variant PRAD-UK 3 182677141 182677141 single base substitution C T intron_variant PRAD-UK 3 182686500 182686500 single base substitution G A intron_variant PRAD-UK 3 182695661 182695661 single base substitution C T intron_variant PRAD-UK 3 182702840 182702843 deletion of <=200bp TTGA - intron_variant PRAD-UK 3 182702840 182702843 deletion of <=200bp TTGA - upstream_gene_variant PRAD-UK 3 182705053 182705053 single base substitution G A upstream_gene_variant READ-US 3 182683356 182683356 single base substitution C A intron_variant READ-US 3 182683356 182683356 single base substitution C A missense_variant K48N 144G>T READ-US 3 182683356 182683356 single base substitution C A missense_variant K63N 189G>T RECA-EU 3 182655726 182655726 single base substitution T A downstream_gene_variant RECA-EU 3 182658807 182658807 single base substitution A G 3_prime_UTR_variant RECA-EU 3 182658807 182658807 single base substitution A G downstream_gene_variant RECA-EU 3 182666789 182666789 single base substitution T C intron_variant RECA-EU 3 182682641 182682641 single base substitution C A intron_variant RECA-EU 3 182695279 182695279 single base substitution C T intron_variant RECA-EU 3 182706478 182706478 single base substitution A C upstream_gene_variant RECA-EU 3 182706665 182706665 single base substitution C A upstream_gene_variant RECA-EU 3 182708170 182708170 single base substitution T C upstream_gene_variant SKCA-BR 3 182651556 182651556 single base substitution G A downstream_gene_variant SKCA-BR 3 182658570 182658570 single base substitution A C 3_prime_UTR_variant SKCA-BR 3 182658570 182658570 single base substitution A C downstream_gene_variant SKCA-BR 3 182658632 182658632 single base substitution A T 3_prime_UTR_variant SKCA-BR 3 182658632 182658632 single base substitution A T downstream_gene_variant SKCA-BR 3 182662633 182662633 single base substitution T C 3_prime_UTR_variant SKCA-BR 3 182662633 182662633 single base substitution T C downstream_gene_variant SKCA-BR 3 182664889 182664889 insertion of <=200bp - CA intron_variant SKCA-BR 3 182668294 182668294 single base substitution G C intron_variant SKCA-BR 3 182673207 182673207 single base substitution C T intron_variant SKCA-BR 3 182675725 182675725 insertion of <=200bp - CAA downstream_gene_variant SKCA-BR 3 182675725 182675725 insertion of <=200bp - CAA intron_variant SKCA-BR 3 182675746 182675746 insertion of <=200bp - AAG downstream_gene_variant SKCA-BR 3 182675746 182675746 insertion of <=200bp - AAG intron_variant SKCA-BR 3 182683309 182683309 single base substitution A T intron_variant SKCA-BR 3 182688063 182688063 single base substitution G A intron_variant SKCA-BR 3 182689401 182689401 single base substitution A T intron_variant SKCA-BR 3 182690799 182690799 single base substitution C A intron_variant SKCA-BR 3 182692809 182692809 single base substitution A C intron_variant SKCA-BR 3 182693466 182693466 single base substitution G A intron_variant SKCA-BR 3 182695288 182695288 single base substitution G A intron_variant SKCA-BR 3 182697939 182697939 single base substitution T C 5_prime_UTR_variant SKCA-BR 3 182697939 182697939 single base substitution T C intron_variant SKCA-BR 3 182697944 182697944 single base substitution T C intron_variant SKCA-BR 3 182697944 182697944 single base substitution T C upstream_gene_variant SKCA-BR 3 182698218 182698218 single base substitution T G intron_variant SKCA-BR 3 182698218 182698218 single base substitution T G upstream_gene_variant SKCA-BR 3 182698297 182698297 single base substitution C T 5_prime_UTR_variant SKCA-BR 3 182698297 182698297 single base substitution C T intron_variant SKCA-BR 3 182698297 182698297 single base substitution C T upstream_gene_variant SKCA-BR 3 182698447 182698447 single base substitution G A intron_variant SKCA-BR 3 182698447 182698447 single base substitution G A upstream_gene_variant SKCA-BR 3 182700382 182700382 single base substitution A G intron_variant SKCA-BR 3 182700382 182700382 single base substitution A G upstream_gene_variant SKCA-BR 3 182700568 182700568 single base substitution G A intron_variant SKCA-BR 3 182700568 182700568 single base substitution G A upstream_gene_variant SKCA-BR 3 182704880 182704880 insertion of <=200bp - CT upstream_gene_variant SKCA-BR 3 182705584 182705584 single base substitution G A upstream_gene_variant SKCA-BR 3 182705912 182705912 single base substitution G A upstream_gene_variant SKCA-BR 3 182707350 182707350 single base substitution G A upstream_gene_variant SKCA-BR 3 182707547 182707547 single base substitution G A upstream_gene_variant SKCA-BR 3 182708407 182708407 single base substitution G A upstream_gene_variant SKCM-US 3 182662918 182662918 single base substitution G A 3_prime_UTR_variant SKCM-US 3 182662918 182662918 single base substitution G A synonymous_variant R233R 699C>T SKCM-US 3 182662918 182662918 single base substitution G A synonymous_variant R248R 744C>T SKCM-US 3 182683387 182683387 single base substitution C T intron_variant SKCM-US 3 182683387 182683387 single base substitution C T missense_variant R38Q 113G>A SKCM-US 3 182683387 182683387 single base substitution C T missense_variant R53Q 158G>A SKCM-US 3 182683508 182683508 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant SKCM-US 3 182683508 182683508 single base substitution G A exon_variant SKCM-US 3 182683508 182683508 single base substitution G A missense_variant R13C 37C>T STAD-US 3 182662919 182662919 single base substitution C T 3_prime_UTR_variant STAD-US 3 182662919 182662919 single base substitution C T missense_variant R233H 698G>A STAD-US 3 182662919 182662919 single base substitution C T missense_variant R248H 743G>A STAD-US 3 182679028 182679028 single base substitution C T 3_prime_UTR_variant STAD-US 3 182679028 182679028 single base substitution C T downstream_gene_variant STAD-US 3 182679028 182679028 single base substitution C T missense_variant G154E 461G>A STAD-US 3 182679028 182679028 single base substitution C T missense_variant G169E 506G>A STAD-US 3 182679035 182679035 single base substitution T C 3_prime_UTR_variant STAD-US 3 182679035 182679035 single base substitution T C downstream_gene_variant STAD-US 3 182679035 182679035 single base substitution T C missense_variant N152D 454A>G STAD-US 3 182679035 182679035 single base substitution T C missense_variant N167D 499A>G STAD-US 3 182681709 182681709 single base substitution A G 3_prime_UTR_variant STAD-US 3 182681709 182681709 single base substitution A G downstream_gene_variant STAD-US 3 182681709 182681709 single base substitution A G missense_variant F102L 304T>C STAD-US 3 182681709 182681709 single base substitution A G missense_variant F117L 349T>C STAD-US 3 182683470 182683470 single base substitution T G exon_variant STAD-US 3 182683470 182683470 single base substitution T G synonymous_variant T10T 30A>C STAD-US 3 182683470 182683470 single base substitution T G synonymous_variant T25T 75A>C THCA-SA 3 182661952 182661952 single base substitution C T 3_prime_UTR_variant THCA-SA 3 182661952 182661952 single base substitution C T downstream_gene_variant UCEC-US 3 182679117 182679117 single base substitution G T 3_prime_UTR_variant UCEC-US 3 182679117 182679117 single base substitution G T downstream_gene_variant UCEC-US 3 182679117 182679117 single base substitution G T synonymous_variant A124A 372C>A UCEC-US 3 182679117 182679117 single base substitution G T synonymous_variant A139A 417C>A UCEC-US 3 182681739 182681739 single base substitution A G 3_prime_UTR_variant UCEC-US 3 182681739 182681739 single base substitution A G downstream_gene_variant UCEC-US 3 182681739 182681739 single base substitution A G missense_variant W107R 319T>C UCEC-US 3 182681739 182681739 single base substitution A G missense_variant W92R 274T>C UCEC-US 3 182683356 182683356 single base substitution C T intron_variant UCEC-US 3 182683356 182683356 single base substitution C T synonymous_variant K48K 144G>A UCEC-US 3 182683356 182683356 single base substitution C T synonymous_variant K63K 189G>A UCEC-US 3 182683524 182683524 single base substitution C T 5_prime_UTR_variant UCEC-US 3 182683524 182683524 single base substitution C T exon_variant UCEC-US 3 182683524 182683524 single base substitution C T synonymous_variant S7S 21G>A UCEC-US 3 182683539 182683539 single base substitution G A splice_region_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BR-8680-01 COSM4115560 c.349T>C p.F117L Substitution - Missense 3:182963921-182963921 - TCGA-39-5037-01 COSM729690 c.38G>A p.R13H Substitution - Missense 3:182965719-182965719 - 587376 COSM1203176 c.498G>T p.K166N Substitution - Missense 3:182961248-182961248 - 227_T COSM3945190 c.392G>T p.C131F Substitution - Missense 3:182961354-182961354 - TCGA-BG-A0MC-01 COSM208925 c.21G>A p.S7S Substitution - coding silent 3:182965736-182965736 - TCGA-ER-A193-06 COSM260372 c.37C>T p.R13C Substitution - Missense 3:182965720-182965720 - CHC1700T COSM4800470 c.223C>G p.P75A Substitution - Missense 3:182964047-182964047 - SNUH_G15_S1 COSM3682981 c.4-3T>C p.? Unknown 3:182965756-182965756 - RK001_C01 COSM1633006 c.733G>T p.E245* Substitution - Nonsense 3:182945141-182945141 - TCGA-AX-A0J0-01 COSM1041733 c.189G>A p.K63K Substitution - coding silent 3:182965568-182965568 - SNUH_G45_S1 COSM3945191 c.318G>A p.A106A Substitution - coding silent 3:182963952-182963952 - CCK81 COSM3206480 c.178T>C p.L60L Substitution - coding silent 3:182965579-182965579 - PDA_104 COSM5003702 c.457C>T p.R153* Substitution - Nonsense 3:182961289-182961289 - 2307_T COSM3945191 c.318G>A p.A106A Substitution - coding silent 3:182963952-182963952 - SNUH_G37_S1 COSM3682980 c.423A>C p.I141I Substitution - coding silent 3:182961323-182961323 - TCGA-CD-8536-01 COSM3206488 c.75A>C p.T25T Substitution - coding silent 3:182965682-182965682 - RK062_C01 COSM1633008 c.182A>T p.D61V Substitution - Missense 3:182965575-182965575 - TCGA-AA-3856-01 COSM272000 c.571A>C p.K191Q Substitution - Missense 3:182947582-182947582 - TCGA-AC-A23C-01 COSM1484892 c.196G>T p.E66* Substitution - Nonsense 3:182965561-182965561 - TCGA-F5-6814-01 COSM3427367 c.189G>T p.K63N Substitution - Missense 3:182965568-182965568 - TCGA-18-4721-01 COSM729691 c.389+1G>C p.? Unknown 3:182963880-182963880 - TCGA-85-6561-01 COSM729694 c.448G>T p.E150* Substitution - Nonsense 3:182961298-182961298 - TCGA-AC-A23H-01 COSM3846829 c.576C>G p.F192L Substitution - Missense 3:182947577-182947577 - TCGA-59-2352-01 COSM70410 c.303T>G p.S101R Substitution - Missense 3:182963967-182963967 - CHC1700T COSM4800470 c.223C>G p.P75A Substitution - Missense 3:182964047-182964047 - TCGA-A5-A0GH-01 COSM1041731 c.417C>A p.A139A Substitution - coding silent 3:182961329-182961329 - TCGA-B5-A11E-01 COSM1041732 c.319T>C p.W107R Substitution - Missense 3:182963951-182963951 - TCGA-EE-A3J7-06 COSM3915431 c.158G>A p.R53Q Substitution - Missense 3:182965599-182965599 - Pat_04_A COSM260372 c.37C>T p.R13C Substitution - Missense 3:182965720-182965720 - TCGA-18-3411-01 COSM729692 c.402A>G p.I134M Substitution - Missense 3:182961344-182961344 - TCGA-AR-A256-01 COSM1484891 c.580G>A p.D194N Substitution - Missense 3:182947573-182947573 - ESO-081 COSM1243198 c.346G>A p.E116K Substitution - Missense 3:182963924-182963924 - TCGA-HU-8602-01 COSM4115558 c.506G>A p.G169E Substitution - Missense 3:182961240-182961240 - TCGA-D7-A4YV-01 COSM4115557 c.743G>A p.R248H Substitution - Missense 3:182945131-182945131 - TCGA-DK-A3WW-01 COSM3774746 c.212G>C p.R71T Substitution - Missense 3:182965545-182965545 - TCGA-H4-A2HQ-01 COSM1308862 c.232G>T p.E78* Substitution - Nonsense 3:182964038-182964038 - sysucc-311T COSM5465796 c.300T>G p.I100M Substitution - Missense 3:182963970-182963970 - TCGA-DD-A39Y-01 COSM4934521 c.604-2A>G p.? Unknown 3:182947336-182947336 - PDA_043 COSM5000347 c.254G>T p.G85V Substitution - Missense 3:182964016-182964016 - TCGA-AG-A002-01 COSM260372 c.37C>T p.R13C Substitution - Missense 3:182965720-182965720 - AOCS-139-6-3 COSM4149683 c.204G>A p.L68L Substitution - coding silent 3:182965553-182965553 - TCGA-AX-A0J1-01 COSM1041734 c.6C>T p.N2N Substitution - coding silent 3:182965751-182965751 - BD6T COSM5498871 c.742C>T p.R248C Substitution - Missense 3:182945132-182945132 - TCGA-85-6561-01 COSM729693 c.439G>T p.E147* Substitution - Nonsense 3:182961307-182961307 - TCGA-BR-8680-01 COSM4115559 c.499A>G p.N167D Substitution - Missense 3:182961247-182961247 - sysucc-311T COSM1243198 c.346G>A p.E116K Substitution - Missense 3:182963924-182963924 - RK089_C01 COSM1633007 c.238A>G p.K80E Substitution - Missense 3:182964032-182964032 - TCGA-AA-A010-01 COSM280324 c.390-8C>T p.? Unknown 3:182961364-182961364 - TCGA-EE-A3JD-06 COSM4395407 c.744C>T p.R248R Substitution - coding silent 3:182945130-182945130 - TCGA-A6-5665-01 COSM1421176 c.293C>T p.A98V Substitution - Missense 3:182963977-182963977 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.104613 3q26.3 605905

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.S101R c.303T>G 3 182681755 OV C A Nonsense p.E147* c.439G>T 3 182679095 LUSC C A Nonsense p.E150* c.448G>T 3 182679086 LUSC C A Nonsense p.E66* c.196G>T 3 182683349 BRCA C A Nonsense p.E78* c.232G>T 3 182681826 BLCA C G SpliceDonorSNV . c.389+1G>C 3 182681668 LUSC C T Missense p.D194N c.580G>A 3 182665361 BRCA C T Missense p.E23K c.67G>A 3 182683478 HNSC C T Missense p.R13H c.38G>A 3 182683507 LUSC C T Missense p.R53Q c.158G>A 3 182683387 CM C T Synonymous p.S7S c.21G>A 3 182683524 UCEC G A Missense p.R13C c.37C>T 3 182683508 CM G A Synonymous p.R248R c.744C>T 3 182662918 CM G T Missense p.P142H c.425C>A 3 182679109 CM G T Synonymous p.A139A c.417C>A 3 182679117 UCEC T C 5-UTRSNV . c.1-2A>G 3 182698279 CM TCACAAGCAAGCACTCACCTTTGTATCTAT - SpliceDonorDeletion . c.209_220+18delATAGATACAAAGGTGAGTGCTTGCTTGTGA 3 182683307 RCCC T C Missense p.I134M c.402A>G 3 182679132 LUSC T C Missense p.K80E c.238A>G 3 182681820 HC T C Missense p.S99G c.295A>G 3 182681763 LUAD T C Synonymous p.K149K c.447A>G 3 182679087 CM T G Missense p.K191Q c.571A>C 3 182665370 COREAD