Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change BLCA 3 160155928 160155928 + Missense_Mutation SNP G G T TCGA-YC-A9TC-01A-22D-A391-08 TCGA-YC-A9TC-10A-01D-A394-08 g.chr3:160155928G>T c.1044C>A c.(1042-1044)ttC>ttA p.F348L BLCA 3 160155934 160155934 + Silent SNP G G A TCGA-SY-A9G5-01A-11D-A38G-08 TCGA-SY-A9G5-10A-01D-A38J-08 g.chr3:160155934G>A c.1038C>T c.(1036-1038)ctC>ctT p.L346L BLCA 3 160156351 160156351 + Silent SNP G G A TCGA-DK-A1A5-01A-11D-A13W-08 TCGA-DK-A1A5-10A-01D-A13W-08 g.chr3:160156351G>A c.621C>T c.(619-621)ctC>ctT p.L207L BLCA 3 160156689 160156689 + Missense_Mutation SNP C C A TCGA-FJ-A3ZE-01A-11D-A23M-08 TCGA-FJ-A3ZE-10A-01D-A23K-08 g.chr3:160156689C>A c.283G>T c.(283-285)Gtc>Ttc p.V95F BLCA 3 160156757 160156757 + Missense_Mutation SNP G G C TCGA-DK-A1AB-01A-11D-A13W-08 TCGA-DK-A1AB-10A-01D-A13W-08 g.chr3:160156757G>C c.215C>G c.(214-216)tCt>tGt p.S72C BLCA 3 160156793 160156793 + Missense_Mutation SNP C C T TCGA-FD-A3SS-01A-12D-A22Z-08 TCGA-FD-A3SS-10A-01D-A22Z-08 g.chr3:160156793C>T c.179G>A c.(178-180)aGa>aAa p.R60K BLCA 3 160156857 160156857 + Nonsense_Mutation SNP G G A TCGA-BT-A0YX-01A-11D-A10S-08 TCGA-BT-A0YX-10A-01D-A10S-08 g.chr3:160156857G>A c.115C>T c.(115-117)Cag>Tag p.Q39* BRCA 3 160155837 160155837 + Silent SNP G G A TCGA-AR-A0TX-01A-11D-A099-09 TCGA-AR-A0TX-10A-01D-A099-09 g.chr3:160155837G>A c.1135C>T c.(1135-1137)Ctg>Ttg p.L379L BRCA 3 160156133 160156133 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr3:160156133C>T c.839G>A c.(838-840)cGa>cAa p.R280Q BRCA 3 160156484 160156484 + Missense_Mutation SNP A A C TCGA-E9-A22E-01A-11D-A159-09 TCGA-E9-A22E-10A-01D-A159-09 g.chr3:160156484A>C c.488T>G c.(487-489)cTt>cGt p.L163R BRCA 3 160156609 160156609 + Silent SNP A A G TCGA-AO-A128-01A-11D-A10M-09 TCGA-AO-A128-10A-01D-A10M-09 g.chr3:160156609A>G c.363T>C c.(361-363)ctT>ctC p.L121L CESC 3 160155867 160155867 + Missense_Mutation SNP G G C TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr3:160155867G>C c.1105C>G c.(1105-1107)Cta>Gta p.L369V CESC 3 160156451 160156451 + Missense_Mutation SNP G G A TCGA-IR-A3LK-01A-12D-A20U-09 TCGA-IR-A3LK-10A-01D-A20U-09 g.chr3:160156451G>A c.521C>T c.(520-522)tCt>tTt p.S174F COAD 3 160156159 160156159 + Silent SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr3:160156159C>T c.813G>A c.(811-813)gaG>gaA p.E271E COAD 3 160156618 160156618 + Silent SNP A A C TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr3:160156618A>C c.354T>G c.(352-354)ggT>ggG p.G118G COAD 3 160156827 160156827 + Missense_Mutation SNP G G A TCGA-AA-3538-01A-01W-0831-10 TCGA-AA-3538-10A-01W-0831-10 g.chr3:160156827G>A c.145C>T c.(145-147)Cct>Tct p.P49S COADREAD 3 160156159 160156159 + Silent SNP C C T TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr3:160156159C>T c.813G>A c.(811-813)gaG>gaA p.E271E COADREAD 3 160156323 160156323 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:160156323C>T c.649G>A c.(649-651)Gaa>Aaa p.E217K COADREAD 3 160156353 160156353 + Missense_Mutation SNP G G C TCGA-AF-6136-01A-11D-1826-10 TCGA-AF-6136-10A-01D-1826-10 g.chr3:160156353G>C c.619C>G c.(619-621)Ctc>Gtc p.L207V COADREAD 3 160156618 160156618 + Silent SNP A A C TCGA-F4-6703-01A-11D-1835-10 TCGA-F4-6703-10A-01D-1835-10 g.chr3:160156618A>C c.354T>G c.(352-354)ggT>ggG p.G118G COADREAD 3 160156827 160156827 + Missense_Mutation SNP G G A TCGA-AA-3538-01A-01W-0831-10 TCGA-AA-3538-10A-01W-0831-10 g.chr3:160156827G>A c.145C>T c.(145-147)Cct>Tct p.P49S ESCA 3 160156367 160156368 + Frame_Shift_Ins INS - - T TCGA-JY-A93D-01A-11D-A387-09 TCGA-JY-A93D-10A-01D-A38A-09 g.chr3:160156367_160156368insT c.604_605insA c.(604-606)agtfs p.S202fs ESCA 3 160156367 160156368 + Frame_Shift_Ins INS - - T TCGA-L5-A8NJ-01A-11D-A36J-09 TCGA-L5-A8NJ-11A-11D-A36M-09 g.chr3:160156367_160156368insT c.604_605insA c.(604-606)agtfs p.S202fs GBM 3 160156161 160156161 + Missense_Mutation SNP C C T TCGA-06-0185-01A-01W-0254-08 TCGA-06-0185-10B-01W-0254-08 g.chr3:160156161C>T c.811G>A c.(811-813)Gag>Aag p.E271K GBMLGG 3 160156009 160156009 + Missense_Mutation SNP T T G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:160156009T>G c.963A>C c.(961-963)gaA>gaC p.E321D GBMLGG 3 160156161 160156161 + Missense_Mutation SNP C C T TCGA-06-0185-01A-01W-0254-08 TCGA-06-0185-10B-01W-0254-08 g.chr3:160156161C>T c.811G>A c.(811-813)Gag>Aag p.E271K HNSC 3 160155772 160155772 + Silent SNP T T A TCGA-QK-AA3K-01A-11D-A391-08 TCGA-QK-AA3K-10A-01D-A394-08 g.chr3:160155772T>A c.1200A>T c.(1198-1200)atA>atT p.I400I HNSC 3 160156068 160156069 + Frame_Shift_Del DEL TG TG - TCGA-CR-7369-01A-11D-2129-08 TCGA-CR-7369-10A-01D-2129-08 g.chr3:160156068_160156069delTG c.903_904delCA c.(901-906)ctcattfs p.I302fs HNSC 3 160156358 160156358 + Missense_Mutation SNP G G A TCGA-BA-A4IG-01A-11D-A25Y-08 TCGA-BA-A4IG-10A-01D-A25Y-08 g.chr3:160156358G>A c.614C>T c.(613-615)aCg>aTg p.T205M KIPAN 3 160156326 160156326 + Missense_Mutation SNP G G C TCGA-AK-3436-01A-02D-1386-10 TCGA-AK-3436-10A-01D-1251-10 g.chr3:160156326G>C c.646C>G c.(646-648)Caa>Gaa p.Q216E KIRC 3 160156326 160156326 + Missense_Mutation SNP G G C TCGA-AK-3436-01A-02D-1386-10 TCGA-AK-3436-10A-01D-1251-10 g.chr3:160156326G>C c.646C>G c.(646-648)Caa>Gaa p.Q216E LGG 3 160156009 160156009 + Missense_Mutation SNP T T G TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr3:160156009T>G c.963A>C c.(961-963)gaA>gaC p.E321D LIHC 3 160155954 160155954 + Missense_Mutation SNP C C G TCGA-EP-A2KA-01A-11D-A183-10 TCGA-EP-A2KA-10A-01D-A183-10 g.chr3:160155954C>G c.1018G>C c.(1018-1020)Gta>Cta p.V340L LIHC 3 160156300 160156300 + Missense_Mutation SNP T T A TCGA-DD-A73E-01A-12D-A32G-10 TCGA-DD-A73E-10A-01D-A32G-10 g.chr3:160156300T>A c.672A>T c.(670-672)agA>agT p.R224S LIHC 3 160156325 160156325 + Missense_Mutation SNP T T C TCGA-ES-A2HT-01A-12D-A183-10 TCGA-ES-A2HT-11A-11D-A183-10 g.chr3:160156325T>C c.647A>G c.(646-648)cAa>cGa p.Q216R LIHC 3 160156798 160156798 + Silent SNP A A G TCGA-UB-A7MB-01A-11D-A33Q-10 TCGA-UB-A7MB-10A-01D-A33Q-10 g.chr3:160156798A>G c.174T>C c.(172-174)aaT>aaC p.N58N LUAD 3 160155919 160155919 + Silent SNP G G A TCGA-69-7760-01A-11D-2167-08 TCGA-69-7760-10A-01D-2167-08 g.chr3:160155919G>A c.1053C>T c.(1051-1053)caC>caT p.H351H LUAD 3 160156518 160156518 + Missense_Mutation SNP A A C TCGA-97-A4M5-01A-11D-A24P-08 TCGA-97-A4M5-10A-01D-A24P-08 g.chr3:160156518A>C c.454T>G c.(454-456)Ttg>Gtg p.L152V LUSC 3 160155865 160155865 + Silent SNP T T C TCGA-60-2721-01A-01D-1522-08 TCGA-60-2721-11A-01D-1522-08 g.chr3:160155865T>C c.1107A>G c.(1105-1107)ctA>ctG p.L369L PAAD 3 160156199 160156199 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:160156199C>T c.773G>A c.(772-774)cGc>cAc p.R258H PAAD 3 160156854 160156854 + Missense_Mutation SNP C C A TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr3:160156854C>A c.118G>T c.(118-120)Gca>Tca p.A40S READ 3 160156323 160156323 + Missense_Mutation SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr3:160156323C>T c.649G>A c.(649-651)Gaa>Aaa p.E217K READ 3 160156353 160156353 + Missense_Mutation SNP G G C TCGA-AF-6136-01A-11D-1826-10 TCGA-AF-6136-10A-01D-1826-10 g.chr3:160156353G>C c.619C>G c.(619-621)Ctc>Gtc p.L207V SKCM 3 160156437 160156437 + Missense_Mutation SNP G G T TCGA-ER-A19P-06A-11D-A196-08 TCGA-ER-A19P-10A-01D-A198-08 g.chr3:160156437G>T c.535C>A c.(535-537)Caa>Aaa p.Q179K SKCM 3 160156874 160156874 + Missense_Mutation SNP C C T TCGA-EE-A29B-06A-11D-A197-08 TCGA-EE-A29B-10A-01D-A199-08 g.chr3:160156874C>T c.98G>A c.(97-99)tGt>tAt p.C33Y

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 160146645 160146645 single base substitution G C downstream_gene_variant BLCA-US 3 160148850 160148850 single base substitution C T downstream_gene_variant BLCA-US 3 160150149 160150149 single base substitution G C downstream_gene_variant BLCA-US 3 160156351 160156351 single base substitution G A downstream_gene_variant BLCA-US 3 160156351 160156351 single base substitution G A synonymous_variant L207L 621C>T BLCA-US 3 160156689 160156689 single base substitution C A downstream_gene_variant BLCA-US 3 160156689 160156689 single base substitution C A missense_variant V123F 367G>T BLCA-US 3 160156689 160156689 single base substitution C A missense_variant V95F 283G>T BLCA-US 3 160156757 160156757 single base substitution G C downstream_gene_variant BLCA-US 3 160156757 160156757 single base substitution G C missense_variant S100C 299C>G BLCA-US 3 160156757 160156757 single base substitution G C missense_variant S72C 215C>G BLCA-US 3 160156793 160156793 single base substitution C T missense_variant R60K 179G>A BLCA-US 3 160156793 160156793 single base substitution C T missense_variant R67K 200G>A BLCA-US 3 160156793 160156793 single base substitution C T missense_variant R88K 263G>A BLCA-US 3 160156857 160156857 single base substitution G A stop_gained Q39* 115C>T BLCA-US 3 160156857 160156857 single base substitution G A stop_gained Q46* 136C>T BLCA-US 3 160156857 160156857 single base substitution G A stop_gained Q67* 199C>T BOCA-UK 3 160146702 160146702 deletion of <=200bp G - downstream_gene_variant BRCA-EU 3 160147475 160147475 deletion of <=200bp A - downstream_gene_variant BRCA-EU 3 160147852 160147852 single base substitution A G downstream_gene_variant BRCA-EU 3 160149234 160149234 single base substitution G A downstream_gene_variant BRCA-EU 3 160149263 160149264 deletion of <=200bp TT - downstream_gene_variant BRCA-EU 3 160149361 160149361 deletion of <=200bp T - downstream_gene_variant BRCA-EU 3 160149658 160149658 single base substitution T A downstream_gene_variant BRCA-EU 3 160150884 160150884 single base substitution T C 3_prime_UTR_variant BRCA-EU 3 160150884 160150884 single base substitution T C downstream_gene_variant BRCA-EU 3 160151963 160151963 single base substitution A T 3_prime_UTR_variant BRCA-EU 3 160151963 160151963 single base substitution A T downstream_gene_variant BRCA-EU 3 160152734 160152734 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 160152734 160152734 single base substitution G A downstream_gene_variant BRCA-EU 3 160154671 160154671 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 160154671 160154671 single base substitution G C downstream_gene_variant BRCA-EU 3 160154671 160154671 single base substitution G C intron_variant BRCA-EU 3 160155129 160155129 single base substitution G A 3_prime_UTR_variant BRCA-EU 3 160155129 160155129 single base substitution G A downstream_gene_variant BRCA-EU 3 160155129 160155129 single base substitution G A intron_variant BRCA-EU 3 160155177 160155177 single base substitution G C 3_prime_UTR_variant BRCA-EU 3 160155177 160155177 single base substitution G C downstream_gene_variant BRCA-EU 3 160155177 160155177 single base substitution G C intron_variant BRCA-EU 3 160155863 160155863 single base substitution G A downstream_gene_variant BRCA-EU 3 160155863 160155863 single base substitution G A intron_variant BRCA-EU 3 160155863 160155863 single base substitution G A missense_variant S370F 1109C>T BRCA-EU 3 160156196 160156196 single base substitution T G downstream_gene_variant BRCA-EU 3 160156196 160156196 single base substitution T G missense_variant Q259P 776A>C BRCA-EU 3 160157411 160157411 single base substitution G A intron_variant BRCA-EU 3 160157733 160157733 single base substitution G C intron_variant BRCA-EU 3 160157823 160157823 single base substitution C G intron_variant BRCA-EU 3 160158877 160158877 single base substitution C A intron_variant BRCA-EU 3 160159340 160159340 single base substitution G C intron_variant BRCA-EU 3 160160031 160160031 single base substitution C T intron_variant BRCA-EU 3 160160778 160160778 single base substitution A C intron_variant BRCA-EU 3 160161175 160161175 deletion of <=200bp A - intron_variant BRCA-EU 3 160163205 160163205 single base substitution T C intron_variant BRCA-EU 3 160163755 160163755 single base substitution C T intron_variant BRCA-EU 3 160163785 160163785 single base substitution T C intron_variant BRCA-EU 3 160164819 160164819 single base substitution C T intron_variant BRCA-EU 3 160165532 160165532 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 3 160165532 160165532 single base substitution G A intron_variant BRCA-EU 3 160167069 160167069 single base substitution G C intron_variant BRCA-EU 3 160167069 160167069 single base substitution G C upstream_gene_variant BRCA-EU 3 160173155 160173155 single base substitution C A intron_variant BRCA-EU 3 160174166 160174166 single base substitution C T intron_variant BRCA-EU 3 160174519 160174519 deletion of <=200bp A - intron_variant BRCA-EU 3 160175924 160175924 insertion of <=200bp - A intron_variant BRCA-EU 3 160177568 160177568 single base substitution C T intron_variant BRCA-EU 3 160177742 160177742 single base substitution C T intron_variant BRCA-EU 3 160180088 160180088 single base substitution G A intron_variant BRCA-EU 3 160181630 160181630 single base substitution C G intron_variant BRCA-EU 3 160181892 160181892 single base substitution C T intron_variant BRCA-EU 3 160182238 160182238 single base substitution A T intron_variant BRCA-EU 3 160184158 160184158 single base substitution C T intron_variant BRCA-EU 3 160184410 160184410 single base substitution C A intron_variant BRCA-EU 3 160186051 160186051 single base substitution A G intron_variant BRCA-EU 3 160186105 160186105 single base substitution A G intron_variant BRCA-EU 3 160186353 160186353 single base substitution C T intron_variant BRCA-EU 3 160187746 160187746 single base substitution G C intron_variant BRCA-EU 3 160187814 160187814 single base substitution G T intron_variant BRCA-EU 3 160189398 160189398 single base substitution G C intron_variant BRCA-EU 3 160189685 160189685 single base substitution C G intron_variant BRCA-EU 3 160190978 160190978 single base substitution C G intron_variant BRCA-EU 3 160191640 160191640 single base substitution C A intron_variant BRCA-EU 3 160191854 160191854 single base substitution A T intron_variant BRCA-EU 3 160195935 160195935 single base substitution T A intron_variant BRCA-EU 3 160196890 160196890 single base substitution T C intron_variant BRCA-EU 3 160198295 160198295 single base substitution C G intron_variant BRCA-EU 3 160198418 160198418 insertion of <=200bp - T intron_variant BRCA-EU 3 160199437 160199437 single base substitution G C intron_variant BRCA-EU 3 160202717 160202717 single base substitution T A intron_variant BRCA-EU 3 160203990 160203990 single base substitution T A upstream_gene_variant BRCA-EU 3 160204874 160204874 single base substitution T A upstream_gene_variant BRCA-EU 3 160205173 160205205 deletion of <=200bp TTGCACTCCAAACAGGAAGATATGAGGGTACTG - upstream_gene_variant BRCA-EU 3 160206205 160206205 single base substitution C A upstream_gene_variant BRCA-EU 3 160206462 160206462 deletion of <=200bp T - upstream_gene_variant BRCA-EU 3 160207892 160207892 single base substitution A T upstream_gene_variant BRCA-FR 3 160157411 160157411 single base substitution G A intron_variant BRCA-FR 3 160158877 160158877 single base substitution C A intron_variant BRCA-FR 3 160163626 160163626 single base substitution G A intron_variant BRCA-FR 3 160165532 160165532 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-FR 3 160165532 160165532 single base substitution G A intron_variant BRCA-UK 3 160156250 160156250 single base substitution G T downstream_gene_variant BRCA-UK 3 160156250 160156250 single base substitution G T missense_variant S241Y 722C>A BRCA-UK 3 160198604 160198604 single base substitution C T intron_variant BRCA-US 3 160146629 160146629 single base substitution A G downstream_gene_variant BRCA-US 3 160146661 160146661 single base substitution T G downstream_gene_variant BRCA-US 3 160148495 160148497 deletion of <=200bp AGC - downstream_gene_variant BRCA-US 3 160148940 160148941 deletion of <=200bp AT - downstream_gene_variant BRCA-US 3 160155837 160155837 single base substitution G A downstream_gene_variant BRCA-US 3 160155837 160155837 single base substitution G A intron_variant BRCA-US 3 160155837 160155837 single base substitution G A synonymous_variant L379L 1135C>T BRCA-US 3 160156133 160156133 single base substitution C T downstream_gene_variant BRCA-US 3 160156133 160156133 single base substitution C T missense_variant R280Q 839G>A BRCA-US 3 160156484 160156484 single base substitution A C downstream_gene_variant BRCA-US 3 160156484 160156484 single base substitution A C missense_variant L163R 488T>G BRCA-US 3 160156609 160156609 single base substitution A G downstream_gene_variant BRCA-US 3 160156609 160156609 single base substitution A G synonymous_variant L121L 363T>C BRCA-US 3 160156609 160156609 single base substitution A G synonymous_variant L149L 447T>C BTCA-JP 3 160149483 160149483 single base substitution C T downstream_gene_variant BTCA-JP 3 160150304 160150304 single base substitution G C 3_prime_UTR_variant BTCA-JP 3 160150304 160150304 single base substitution G C downstream_gene_variant BTCA-JP 3 160156297 160156297 single base substitution C T downstream_gene_variant BTCA-JP 3 160156297 160156297 single base substitution C T missense_variant M225I 675G>A BTCA-JP 3 160156513 160156513 single base substitution A G downstream_gene_variant BTCA-JP 3 160156513 160156513 single base substitution A G synonymous_variant T153T 459T>C CESC-US 3 160146645 160146645 single base substitution G A downstream_gene_variant CESC-US 3 160149569 160149569 single base substitution G A downstream_gene_variant CESC-US 3 160150959 160150959 single base substitution G C 3_prime_UTR_variant CESC-US 3 160150959 160150959 single base substitution G C downstream_gene_variant CESC-US 3 160155867 160155867 single base substitution G C downstream_gene_variant CESC-US 3 160155867 160155867 single base substitution G C intron_variant CESC-US 3 160155867 160155867 single base substitution G C missense_variant L369V 1105C>G CESC-US 3 160156451 160156451 single base substitution G A downstream_gene_variant CESC-US 3 160156451 160156451 single base substitution G A missense_variant S174F 521C>T CLLE-ES 3 160167545 160167545 single base substitution A G 5_prime_UTR_variant CLLE-ES 3 160167545 160167545 single base substitution A G intron_variant CLLE-ES 3 160167545 160167545 single base substitution A G upstream_gene_variant COAD-US 3 160151484 160151484 single base substitution C T 3_prime_UTR_variant COAD-US 3 160151484 160151484 single base substitution C T downstream_gene_variant COAD-US 3 160156159 160156159 single base substitution C T downstream_gene_variant COAD-US 3 160156159 160156159 single base substitution C T synonymous_variant E271E 813G>A COAD-US 3 160156951 160156951 single base substitution C T synonymous_variant E14E 42G>A COAD-US 3 160156951 160156951 single base substitution C T synonymous_variant E35E 105G>A COAD-US 3 160156951 160156951 single base substitution C T synonymous_variant E7E 21G>A COCA-CN 3 160151484 160151484 single base substitution C T 3_prime_UTR_variant COCA-CN 3 160151484 160151484 single base substitution C T downstream_gene_variant COCA-CN 3 160151520 160151520 single base substitution G A 3_prime_UTR_variant COCA-CN 3 160151520 160151520 single base substitution G A downstream_gene_variant COCA-CN 3 160153575 160153575 single base substitution C A 3_prime_UTR_variant COCA-CN 3 160153575 160153575 single base substitution C A downstream_gene_variant COCA-CN 3 160156467 160156467 single base substitution C A downstream_gene_variant COCA-CN 3 160156467 160156467 single base substitution C A stop_gained E169* 505G>T COCA-CN 3 160156644 160156644 single base substitution G C downstream_gene_variant COCA-CN 3 160156644 160156644 single base substitution G C missense_variant L110V 328C>G COCA-CN 3 160156644 160156644 single base substitution G C missense_variant L138V 412C>G COCA-CN 3 160170297 160170297 single base substitution C T intron_variant COCA-CN 3 160170297 160170297 single base substitution C T upstream_gene_variant COCA-CN 3 160170543 160170543 single base substitution C T intron_variant COCA-CN 3 160170543 160170543 single base substitution C T upstream_gene_variant COCA-CN 3 160170553 160170553 single base substitution G A intron_variant COCA-CN 3 160170553 160170553 single base substitution G A upstream_gene_variant COCA-CN 3 160203308 160203308 single base substitution A C 5_prime_UTR_variant EOPC-DE 3 160164871 160164871 single base substitution A G intron_variant EOPC-DE 3 160177453 160177453 single base substitution C A intron_variant ESAD-UK 3 160145741 160145742 deletion of <=200bp AC - downstream_gene_variant ESAD-UK 3 160145891 160145891 single base substitution G A downstream_gene_variant ESAD-UK 3 160148601 160148601 single base substitution A G downstream_gene_variant ESAD-UK 3 160150858 160150858 single base substitution C T 3_prime_UTR_variant ESAD-UK 3 160150858 160150858 single base substitution C T downstream_gene_variant ESAD-UK 3 160151282 160151282 insertion of <=200bp - A 3_prime_UTR_variant ESAD-UK 3 160151282 160151282 insertion of <=200bp - A downstream_gene_variant ESAD-UK 3 160154052 160154052 single base substitution T C 3_prime_UTR_variant ESAD-UK 3 160154052 160154052 single base substitution T C downstream_gene_variant ESAD-UK 3 160154052 160154052 single base substitution T C intron_variant ESAD-UK 3 160154292 160154292 single base substitution G T 3_prime_UTR_variant ESAD-UK 3 160154292 160154292 single base substitution G T downstream_gene_variant ESAD-UK 3 160154292 160154292 single base substitution G T intron_variant ESAD-UK 3 160157978 160157978 single base substitution G C intron_variant ESAD-UK 3 160164351 160164351 single base substitution T C intron_variant ESAD-UK 3 160165112 160165112 single base substitution A G intron_variant ESAD-UK 3 160165944 160165944 insertion of <=200bp - A intron_variant ESAD-UK 3 160167572 160167572 single base substitution G A 5_prime_UTR_variant ESAD-UK 3 160167572 160167572 single base substitution G A intron_variant ESAD-UK 3 160167572 160167572 single base substitution G A upstream_gene_variant ESAD-UK 3 160169655 160169655 single base substitution C T intron_variant ESAD-UK 3 160169655 160169655 single base substitution C T upstream_gene_variant ESAD-UK 3 160170542 160170542 single base substitution G A intron_variant ESAD-UK 3 160170542 160170542 single base substitution G A upstream_gene_variant ESAD-UK 3 160171065 160171065 single base substitution C A intron_variant ESAD-UK 3 160171065 160171065 single base substitution C A upstream_gene_variant ESAD-UK 3 160176180 160176180 single base substitution G A intron_variant ESAD-UK 3 160176554 160176554 single base substitution G A intron_variant ESAD-UK 3 160176600 160176600 single base substitution G A intron_variant ESAD-UK 3 160176707 160176707 deletion of <=200bp A - intron_variant ESAD-UK 3 160177323 160177323 single base substitution G A intron_variant ESAD-UK 3 160179268 160179268 single base substitution T C intron_variant ESAD-UK 3 160179768 160179768 single base substitution C T intron_variant ESAD-UK 3 160180519 160180519 single base substitution T G intron_variant ESAD-UK 3 160180829 160180829 single base substitution G A intron_variant ESAD-UK 3 160182013 160182013 single base substitution C T intron_variant ESAD-UK 3 160184044 160184044 deletion of <=200bp A - intron_variant ESAD-UK 3 160187133 160187133 single base substitution C A intron_variant ESAD-UK 3 160187630 160187630 single base substitution C G intron_variant ESAD-UK 3 160187809 160187809 single base substitution A C intron_variant ESAD-UK 3 160187833 160187833 single base substitution C A intron_variant ESAD-UK 3 160188015 160188015 single base substitution A C intron_variant ESAD-UK 3 160189334 160189334 single base substitution G T intron_variant ESAD-UK 3 160191857 160191857 single base substitution T C intron_variant ESAD-UK 3 160194212 160194212 single base substitution G T intron_variant ESAD-UK 3 160194323 160194323 single base substitution G A intron_variant ESAD-UK 3 160195259 160195259 single base substitution G C intron_variant ESAD-UK 3 160195505 160195505 single base substitution G T intron_variant ESAD-UK 3 160195546 160195546 single base substitution G T intron_variant ESAD-UK 3 160196060 160196060 single base substitution T G intron_variant ESAD-UK 3 160197591 160197591 single base substitution T C intron_variant ESAD-UK 3 160198061 160198061 single base substitution C A intron_variant ESAD-UK 3 160198410 160198410 insertion of <=200bp - T intron_variant ESAD-UK 3 160201636 160201636 single base substitution A G intron_variant ESAD-UK 3 160202190 160202190 insertion of <=200bp - A intron_variant ESAD-UK 3 160206073 160206073 single base substitution G C upstream_gene_variant ESAD-UK 3 160206606 160206606 single base substitution G T upstream_gene_variant ESAD-UK 3 160208141 160208141 single base substitution C G upstream_gene_variant ESAD-UK 3 160208295 160208296 deletion of <=200bp AT - upstream_gene_variant ESCA-CN 3 160151485 160151485 single base substitution G T 3_prime_UTR_variant ESCA-CN 3 160151485 160151485 single base substitution G T downstream_gene_variant ESCA-CN 3 160151512 160151512 single base substitution G C 3_prime_UTR_variant ESCA-CN 3 160151512 160151512 single base substitution G C downstream_gene_variant ESCA-CN 3 160156237 160156238 deletion of <=200bp CT - downstream_gene_variant ESCA-CN 3 160156237 160156238 deletion of <=200bp CT - frameshift_variant E245 GBM-US 3 160156161 160156161 single base substitution C T downstream_gene_variant GBM-US 3 160156161 160156161 single base substitution C T missense_variant E271K 811G>A KIRC-US 3 160156326 160156326 single base substitution G C downstream_gene_variant KIRC-US 3 160156326 160156326 single base substitution G C missense_variant Q216E 646C>G LAML-KR 3 160146845 160146845 single base substitution T A downstream_gene_variant LICA-FR 3 160156049 160156049 single base substitution G A downstream_gene_variant LICA-FR 3 160156049 160156049 single base substitution G A missense_variant S308F 923C>T LIHC-US 3 160155954 160155954 single base substitution C G downstream_gene_variant LIHC-US 3 160155954 160155954 single base substitution C G intron_variant LIHC-US 3 160155954 160155954 single base substitution C G missense_variant V340L 1018G>C LIHC-US 3 160156300 160156300 single base substitution T A downstream_gene_variant LIHC-US 3 160156300 160156300 single base substitution T A missense_variant R224S 672A>T LIHC-US 3 160156798 160156798 single base substitution A G synonymous_variant N58N 174T>C LIHC-US 3 160156798 160156798 single base substitution A G synonymous_variant N65N 195T>C LIHC-US 3 160156798 160156798 single base substitution A G synonymous_variant N86N 258T>C LINC-JP 3 160146430 160146430 single base substitution A G downstream_gene_variant LINC-JP 3 160147989 160147989 single base substitution T G downstream_gene_variant LINC-JP 3 160148682 160148682 single base substitution A T downstream_gene_variant LINC-JP 3 160150043 160150043 single base substitution G A downstream_gene_variant LINC-JP 3 160150169 160150169 single base substitution T C downstream_gene_variant LINC-JP 3 160156014 160156014 single base substitution C G downstream_gene_variant LINC-JP 3 160156014 160156014 single base substitution C G missense_variant D320H 958G>C LINC-JP 3 160156014 160156014 single base substitution C G splice_region_variant LINC-JP 3 160166778 160166778 single base substitution C T intron_variant LINC-JP 3 160166778 160166778 single base substitution C T upstream_gene_variant LINC-JP 3 160169070 160169070 single base substitution C T intron_variant LINC-JP 3 160169070 160169070 single base substitution C T upstream_gene_variant LINC-JP 3 160169277 160169277 deletion of <=200bp A - intron_variant LINC-JP 3 160169277 160169277 deletion of <=200bp A - upstream_gene_variant LINC-JP 3 160170808 160170808 single base substitution G A intron_variant LINC-JP 3 160170808 160170808 single base substitution G A upstream_gene_variant LINC-JP 3 160173826 160173828 deletion of <=200bp ACT - intron_variant LINC-JP 3 160175144 160175144 single base substitution C T intron_variant LINC-JP 3 160182163 160182163 single base substitution T C intron_variant LINC-JP 3 160185897 160185897 single base substitution G C intron_variant LINC-JP 3 160187849 160187849 single base substitution A T intron_variant LINC-JP 3 160198509 160198509 single base substitution T C intron_variant LIRI-JP 3 160147319 160147319 single base substitution A T downstream_gene_variant LIRI-JP 3 160147364 160147364 single base substitution G A downstream_gene_variant LIRI-JP 3 160147590 160147590 single base substitution C T downstream_gene_variant LIRI-JP 3 160149635 160149635 single base substitution A G downstream_gene_variant LIRI-JP 3 160152496 160152496 single base substitution A C 3_prime_UTR_variant LIRI-JP 3 160152496 160152496 single base substitution A C downstream_gene_variant LIRI-JP 3 160156814 160156814 single base substitution G T missense_variant P53Q 158C>A LIRI-JP 3 160156814 160156814 single base substitution G T missense_variant P60Q 179C>A LIRI-JP 3 160156814 160156814 single base substitution G T missense_variant P81Q 242C>A LIRI-JP 3 160156815 160156815 single base substitution G T missense_variant P53T 157C>A LIRI-JP 3 160156815 160156815 single base substitution G T missense_variant P60T 178C>A LIRI-JP 3 160156815 160156815 single base substitution G T missense_variant P81T 241C>A LIRI-JP 3 160157107 160157107 single base substitution A T intron_variant LIRI-JP 3 160157177 160157177 single base substitution A G intron_variant LIRI-JP 3 160159741 160159741 single base substitution A G intron_variant LIRI-JP 3 160162183 160162183 single base substitution G A intron_variant LIRI-JP 3 160162224 160162224 single base substitution A C intron_variant LIRI-JP 3 160162421 160162421 single base substitution A G intron_variant LIRI-JP 3 160162924 160162924 single base substitution C A intron_variant LIRI-JP 3 160162929 160162929 single base substitution G C intron_variant LIRI-JP 3 160163281 160163281 single base substitution G T intron_variant LIRI-JP 3 160166137 160166137 single base substitution T A intron_variant LIRI-JP 3 160169193 160169193 single base substitution T C intron_variant LIRI-JP 3 160169193 160169193 single base substitution T C upstream_gene_variant LIRI-JP 3 160171027 160171027 single base substitution A G intron_variant LIRI-JP 3 160171027 160171027 single base substitution A G upstream_gene_variant LIRI-JP 3 160172252 160172252 single base substitution A G intron_variant LIRI-JP 3 160172252 160172252 single base substitution A G upstream_gene_variant LIRI-JP 3 160173518 160173518 single base substitution A T intron_variant LIRI-JP 3 160173758 160173758 single base substitution A G intron_variant LIRI-JP 3 160174088 160174088 single base substitution C A intron_variant LIRI-JP 3 160174609 160174609 single base substitution A T intron_variant LIRI-JP 3 160175262 160175262 single base substitution A G intron_variant LIRI-JP 3 160175353 160175353 single base substitution G A intron_variant LIRI-JP 3 160177482 160177482 single base substitution C T intron_variant LIRI-JP 3 160177695 160177695 single base substitution T C intron_variant LIRI-JP 3 160178029 160178029 single base substitution G T intron_variant LIRI-JP 3 160179924 160179924 single base substitution C A intron_variant LIRI-JP 3 160179940 160179940 single base substitution T C intron_variant LIRI-JP 3 160181213 160181213 single base substitution C T intron_variant LIRI-JP 3 160182306 160182306 single base substitution C T intron_variant LIRI-JP 3 160183012 160183012 single base substitution T C intron_variant LIRI-JP 3 160184356 160184356 single base substitution A G intron_variant LIRI-JP 3 160185388 160185388 single base substitution T C intron_variant LIRI-JP 3 160185429 160185429 single base substitution A C intron_variant LIRI-JP 3 160185610 160185610 single base substitution G A intron_variant LIRI-JP 3 160192408 160192408 single base substitution A T intron_variant LIRI-JP 3 160197957 160197957 single base substitution T C intron_variant LIRI-JP 3 160201891 160201891 single base substitution T A intron_variant LIRI-JP 3 160203939 160203939 single base substitution A T upstream_gene_variant LIRI-JP 3 160204515 160204515 single base substitution T C upstream_gene_variant LIRI-JP 3 160204746 160204746 single base substitution T C upstream_gene_variant LIRI-JP 3 160207088 160207088 single base substitution C T upstream_gene_variant LIRI-JP 3 160207187 160207187 single base substitution A G upstream_gene_variant LIRI-JP 3 160208321 160208321 single base substitution T C upstream_gene_variant LUSC-KR 3 160148756 160148756 single base substitution C T downstream_gene_variant LUSC-KR 3 160149310 160149310 single base substitution G C downstream_gene_variant LUSC-KR 3 160151898 160151898 single base substitution G A 3_prime_UTR_variant LUSC-KR 3 160151898 160151898 single base substitution G A downstream_gene_variant LUSC-KR 3 160152042 160152042 single base substitution G C 3_prime_UTR_variant LUSC-KR 3 160152042 160152042 single base substitution G C downstream_gene_variant LUSC-KR 3 160152696 160152696 single base substitution A G 3_prime_UTR_variant LUSC-KR 3 160152696 160152696 single base substitution A G downstream_gene_variant LUSC-KR 3 160152770 160152770 single base substitution T C 3_prime_UTR_variant LUSC-KR 3 160152770 160152770 single base substitution T C downstream_gene_variant LUSC-KR 3 160153989 160153989 single base substitution C T 3_prime_UTR_variant LUSC-KR 3 160153989 160153989 single base substitution C T downstream_gene_variant LUSC-KR 3 160153989 160153989 single base substitution C T intron_variant LUSC-KR 3 160154406 160154406 single base substitution G A 3_prime_UTR_variant LUSC-KR 3 160154406 160154406 single base substitution G A downstream_gene_variant LUSC-KR 3 160154406 160154406 single base substitution G A intron_variant LUSC-KR 3 160154747 160154747 single base substitution A G 3_prime_UTR_variant LUSC-KR 3 160154747 160154747 single base substitution A G downstream_gene_variant LUSC-KR 3 160154747 160154747 single base substitution A G intron_variant LUSC-KR 3 160155047 160155047 single base substitution C T 3_prime_UTR_variant LUSC-KR 3 160155047 160155047 single base substitution C T downstream_gene_variant LUSC-KR 3 160155047 160155047 single base substitution C T intron_variant LUSC-KR 3 160156820 160156820 single base substitution C T missense_variant R51Q 152G>A LUSC-KR 3 160156820 160156820 single base substitution C T missense_variant R58Q 173G>A LUSC-KR 3 160156820 160156820 single base substitution C T missense_variant R79Q 236G>A LUSC-KR 3 160159561 160159561 single base substitution G A intron_variant LUSC-KR 3 160164113 160164113 single base substitution A G intron_variant LUSC-KR 3 160167654 160167654 single base substitution C T intron_variant LUSC-KR 3 160167654 160167654 single base substitution C T upstream_gene_variant LUSC-KR 3 160167968 160167968 single base substitution G A intron_variant LUSC-KR 3 160167968 160167968 single base substitution G A upstream_gene_variant LUSC-KR 3 160170117 160170117 single base substitution C T intron_variant LUSC-KR 3 160170117 160170117 single base substitution C T upstream_gene_variant LUSC-KR 3 160170155 160170155 single base substitution G C intron_variant LUSC-KR 3 160170155 160170155 single base substitution G C upstream_gene_variant LUSC-KR 3 160170243 160170243 single base substitution G A intron_variant LUSC-KR 3 160170243 160170243 single base substitution G A upstream_gene_variant LUSC-KR 3 160171092 160171092 single base substitution C T intron_variant LUSC-KR 3 160171092 160171092 single base substitution C T upstream_gene_variant LUSC-KR 3 160171256 160171256 single base substitution G A intron_variant LUSC-KR 3 160171256 160171256 single base substitution G A upstream_gene_variant LUSC-KR 3 160171453 160171453 single base substitution C T intron_variant LUSC-KR 3 160171453 160171453 single base substitution C T upstream_gene_variant LUSC-KR 3 160171476 160171476 single base substitution G T intron_variant LUSC-KR 3 160171476 160171476 single base substitution G T upstream_gene_variant LUSC-KR 3 160172416 160172416 single base substitution C A intron_variant LUSC-KR 3 160172416 160172416 single base substitution C A upstream_gene_variant LUSC-KR 3 160175090 160175090 single base substitution C T intron_variant LUSC-KR 3 160175382 160175382 single base substitution G T intron_variant LUSC-KR 3 160178706 160178706 single base substitution C A intron_variant LUSC-KR 3 160179842 160179842 single base substitution G A intron_variant LUSC-KR 3 160180295 160180295 single base substitution C T intron_variant LUSC-KR 3 160180714 160180714 single base substitution G T intron_variant LUSC-KR 3 160180795 160180795 single base substitution G A intron_variant LUSC-KR 3 160181135 160181135 single base substitution C T intron_variant LUSC-KR 3 160183050 160183050 single base substitution G T intron_variant LUSC-KR 3 160184708 160184708 single base substitution C A intron_variant LUSC-KR 3 160187119 160187119 single base substitution C T intron_variant LUSC-KR 3 160187212 160187212 single base substitution C A intron_variant LUSC-KR 3 160187219 160187219 single base substitution C T intron_variant LUSC-KR 3 160188457 160188457 single base substitution A T intron_variant LUSC-KR 3 160193480 160193480 single base substitution C T intron_variant LUSC-KR 3 160195918 160195918 single base substitution A C intron_variant LUSC-KR 3 160198142 160198142 single base substitution A G intron_variant LUSC-KR 3 160198710 160198710 single base substitution C A intron_variant LUSC-KR 3 160199013 160199013 single base substitution G A intron_variant LUSC-KR 3 160201502 160201502 single base substitution G C intron_variant LUSC-KR 3 160201987 160201987 single base substitution T C intron_variant LUSC-KR 3 160202095 160202095 single base substitution G T intron_variant LUSC-KR 3 160202475 160202475 single base substitution G C intron_variant LUSC-KR 3 160205494 160205494 single base substitution C G upstream_gene_variant LUSC-KR 3 160208043 160208043 single base substitution C G upstream_gene_variant LUSC-US 3 160146715 160146715 single base substitution T A downstream_gene_variant LUSC-US 3 160146716 160146716 single base substitution C A downstream_gene_variant LUSC-US 3 160150074 160150074 single base substitution G T downstream_gene_variant LUSC-US 3 160155865 160155865 single base substitution T C downstream_gene_variant LUSC-US 3 160155865 160155865 single base substitution T C intron_variant LUSC-US 3 160155865 160155865 single base substitution T C synonymous_variant L369L 1107A>G MALY-DE 3 160146397 160146397 single base substitution T C downstream_gene_variant MALY-DE 3 160149528 160149528 single base substitution C T downstream_gene_variant MALY-DE 3 160155847 160155847 single base substitution T G downstream_gene_variant MALY-DE 3 160155847 160155847 single base substitution T G intron_variant MALY-DE 3 160155847 160155847 single base substitution T G missense_variant L375F 1125A>C MALY-DE 3 160155950 160155950 single base substitution A G downstream_gene_variant MALY-DE 3 160155950 160155950 single base substitution A G intron_variant MALY-DE 3 160155950 160155950 single base substitution A G missense_variant I341T 1022T>C MALY-DE 3 160156377 160156377 single base substitution T C downstream_gene_variant MALY-DE 3 160156377 160156377 single base substitution T C missense_variant K199E 595A>G MALY-DE 3 160156903 160156903 single base substitution C A synonymous_variant L23L 69G>T MALY-DE 3 160156903 160156903 single base substitution C A synonymous_variant L30L 90G>T MALY-DE 3 160156903 160156903 single base substitution C A synonymous_variant L51L 153G>T MALY-DE 3 160162400 160162400 single base substitution G T intron_variant MALY-DE 3 160173810 160173810 deletion of <=200bp T - intron_variant MALY-DE 3 160173818 160173826 deletion of <=200bp TACCTCCAA - intron_variant MALY-DE 3 160180787 160180787 single base substitution T C intron_variant MALY-DE 3 160185639 160185648 deletion of <=200bp AAAAAAAAAA - intron_variant MALY-DE 3 160188014 160188014 single base substitution A G intron_variant MALY-DE 3 160194985 160194985 single base substitution C A intron_variant MELA-AU 3 160145233 160145233 single base substitution C T downstream_gene_variant MELA-AU 3 160145835 160145836 multiple base substitution (>=2bp and <=200bp) GG TT downstream_gene_variant MELA-AU 3 160146762 160146762 single base substitution C T downstream_gene_variant MELA-AU 3 160148996 160148996 single base substitution G A downstream_gene_variant MELA-AU 3 160149006 160149007 multiple base substitution (>=2bp and <=200bp) CC AT downstream_gene_variant MELA-AU 3 160150558 160150558 single base substitution A G 3_prime_UTR_variant MELA-AU 3 160150558 160150558 single base substitution A G downstream_gene_variant MELA-AU 3 160153074 160153075 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 3 160153074 160153075 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 3 160158469 160158469 single base substitution G A intron_variant MELA-AU 3 160158472 160158472 single base substitution G A intron_variant MELA-AU 3 160158491 160158492 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 160158561 160158561 single base substitution T G intron_variant MELA-AU 3 160159152 160159152 single base substitution T A intron_variant MELA-AU 3 160159535 160159535 single base substitution C T intron_variant MELA-AU 3 160160074 160160074 single base substitution G A intron_variant MELA-AU 3 160160862 160160862 single base substitution G A intron_variant MELA-AU 3 160160937 160160937 single base substitution C T intron_variant MELA-AU 3 160160973 160160973 single base substitution G A intron_variant MELA-AU 3 160161198 160161198 single base substitution A C intron_variant MELA-AU 3 160161317 160161317 single base substitution G A intron_variant MELA-AU 3 160161390 160161390 single base substitution G A intron_variant MELA-AU 3 160161959 160161959 single base substitution A T intron_variant MELA-AU 3 160162707 160162707 single base substitution G A intron_variant MELA-AU 3 160162979 160162979 single base substitution G A intron_variant MELA-AU 3 160163027 160163027 single base substitution A G intron_variant MELA-AU 3 160163346 160163346 single base substitution G A intron_variant MELA-AU 3 160163766 160163766 single base substitution T C intron_variant MELA-AU 3 160163915 160163915 single base substitution A G intron_variant MELA-AU 3 160164487 160164487 single base substitution C T intron_variant MELA-AU 3 160164613 160164613 single base substitution G A intron_variant MELA-AU 3 160165286 160165286 single base substitution C T intron_variant MELA-AU 3 160165531 160165531 single base substitution C T 5_prime_UTR_variant MELA-AU 3 160165531 160165531 single base substitution C T intron_variant MELA-AU 3 160166054 160166054 single base substitution C T intron_variant MELA-AU 3 160166706 160166707 multiple base substitution (>=2bp and <=200bp) CC AA 5_prime_UTR_variant MELA-AU 3 160166706 160166707 multiple base substitution (>=2bp and <=200bp) CC AA intron_variant MELA-AU 3 160167031 160167031 single base substitution A G intron_variant MELA-AU 3 160167031 160167031 single base substitution A G upstream_gene_variant MELA-AU 3 160167331 160167331 single base substitution C T 5_prime_UTR_variant MELA-AU 3 160167331 160167331 single base substitution C T intron_variant MELA-AU 3 160167331 160167331 single base substitution C T upstream_gene_variant MELA-AU 3 160168051 160168051 single base substitution T G intron_variant MELA-AU 3 160168051 160168051 single base substitution T G upstream_gene_variant MELA-AU 3 160168257 160168257 single base substitution C T intron_variant MELA-AU 3 160168257 160168257 single base substitution C T upstream_gene_variant MELA-AU 3 160168796 160168796 single base substitution G A intron_variant MELA-AU 3 160168796 160168796 single base substitution G A upstream_gene_variant MELA-AU 3 160169051 160169051 single base substitution C T intron_variant MELA-AU 3 160169051 160169051 single base substitution C T upstream_gene_variant MELA-AU 3 160169213 160169213 single base substitution G A intron_variant MELA-AU 3 160169213 160169213 single base substitution G A upstream_gene_variant MELA-AU 3 160169277 160169277 single base substitution A C intron_variant MELA-AU 3 160169277 160169277 single base substitution A C upstream_gene_variant MELA-AU 3 160169279 160169279 single base substitution A G intron_variant MELA-AU 3 160169279 160169279 single base substitution A G upstream_gene_variant MELA-AU 3 160169490 160169490 single base substitution G A intron_variant MELA-AU 3 160169490 160169490 single base substitution G A upstream_gene_variant MELA-AU 3 160169500 160169500 single base substitution C T intron_variant MELA-AU 3 160169500 160169500 single base substitution C T upstream_gene_variant MELA-AU 3 160169659 160169659 single base substitution G A intron_variant MELA-AU 3 160169659 160169659 single base substitution G A upstream_gene_variant MELA-AU 3 160169878 160169878 single base substitution A T intron_variant MELA-AU 3 160169878 160169878 single base substitution A T upstream_gene_variant MELA-AU 3 160170116 160170116 single base substitution C T intron_variant MELA-AU 3 160170116 160170116 single base substitution C T upstream_gene_variant MELA-AU 3 160170615 160170615 single base substitution C T intron_variant MELA-AU 3 160170615 160170615 single base substitution C T upstream_gene_variant MELA-AU 3 160170700 160170700 single base substitution G A intron_variant MELA-AU 3 160170700 160170700 single base substitution G A upstream_gene_variant MELA-AU 3 160170792 160170792 single base substitution C T intron_variant MELA-AU 3 160170792 160170792 single base substitution C T upstream_gene_variant MELA-AU 3 160170802 160170802 single base substitution A T intron_variant MELA-AU 3 160170802 160170802 single base substitution A T upstream_gene_variant MELA-AU 3 160171012 160171013 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 3 160171012 160171013 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 3 160171127 160171127 single base substitution C T intron_variant MELA-AU 3 160171127 160171127 single base substitution C T upstream_gene_variant MELA-AU 3 160171277 160171277 single base substitution C T intron_variant MELA-AU 3 160171277 160171277 single base substitution C T upstream_gene_variant MELA-AU 3 160171615 160171615 single base substitution T A intron_variant MELA-AU 3 160171615 160171615 single base substitution T A upstream_gene_variant MELA-AU 3 160171685 160171685 single base substitution G A intron_variant MELA-AU 3 160171685 160171685 single base substitution G A upstream_gene_variant MELA-AU 3 160171698 160171698 single base substitution G A intron_variant MELA-AU 3 160171698 160171698 single base substitution G A upstream_gene_variant MELA-AU 3 160171917 160171917 single base substitution G A intron_variant MELA-AU 3 160171917 160171917 single base substitution G A upstream_gene_variant MELA-AU 3 160172023 160172023 single base substitution A T intron_variant MELA-AU 3 160172023 160172023 single base substitution A T upstream_gene_variant MELA-AU 3 160172101 160172101 single base substitution G A intron_variant MELA-AU 3 160172101 160172101 single base substitution G A upstream_gene_variant MELA-AU 3 160172248 160172248 single base substitution G A intron_variant MELA-AU 3 160172248 160172248 single base substitution G A upstream_gene_variant MELA-AU 3 160172575 160172575 single base substitution G A intron_variant MELA-AU 3 160172575 160172575 single base substitution G A upstream_gene_variant MELA-AU 3 160173383 160173383 single base substitution C T intron_variant MELA-AU 3 160173571 160173571 single base substitution A G intron_variant MELA-AU 3 160174047 160174047 single base substitution C T intron_variant MELA-AU 3 160174258 160174258 single base substitution C T intron_variant MELA-AU 3 160174460 160174460 single base substitution C T intron_variant MELA-AU 3 160174912 160174912 single base substitution C T intron_variant MELA-AU 3 160174995 160174995 single base substitution G A intron_variant MELA-AU 3 160175315 160175315 single base substitution G A intron_variant MELA-AU 3 160175717 160175717 single base substitution A T intron_variant MELA-AU 3 160175749 160175749 single base substitution G A intron_variant MELA-AU 3 160175786 160175786 single base substitution A G intron_variant MELA-AU 3 160175828 160175828 single base substitution C T intron_variant MELA-AU 3 160176017 160176017 single base substitution G A intron_variant MELA-AU 3 160176018 160176018 single base substitution G A intron_variant MELA-AU 3 160176033 160176033 single base substitution G A intron_variant MELA-AU 3 160176138 160176138 single base substitution C T intron_variant MELA-AU 3 160176202 160176202 single base substitution G A intron_variant MELA-AU 3 160176324 160176324 single base substitution G A intron_variant MELA-AU 3 160176873 160176873 single base substitution T C intron_variant MELA-AU 3 160177041 160177041 single base substitution C T intron_variant MELA-AU 3 160177117 160177117 single base substitution C T intron_variant MELA-AU 3 160177288 160177288 single base substitution G C intron_variant MELA-AU 3 160177423 160177423 single base substitution C T intron_variant MELA-AU 3 160177527 160177527 single base substitution C T intron_variant MELA-AU 3 160177539 160177539 single base substitution G A intron_variant MELA-AU 3 160177592 160177592 single base substitution C T intron_variant MELA-AU 3 160177632 160177632 single base substitution G A intron_variant MELA-AU 3 160177649 160177649 single base substitution G A intron_variant MELA-AU 3 160177838 160177838 single base substitution C T intron_variant MELA-AU 3 160177975 160177975 single base substitution G A intron_variant MELA-AU 3 160177979 160177979 single base substitution G A intron_variant MELA-AU 3 160178236 160178236 single base substitution C T intron_variant MELA-AU 3 160178286 160178286 single base substitution G A intron_variant MELA-AU 3 160178299 160178299 single base substitution G A intron_variant MELA-AU 3 160178348 160178348 single base substitution G A intron_variant MELA-AU 3 160178419 160178419 single base substitution G A intron_variant MELA-AU 3 160178419 160178420 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 3 160178480 160178480 single base substitution C A intron_variant MELA-AU 3 160178480 160178480 single base substitution C T intron_variant MELA-AU 3 160178562 160178562 single base substitution G A intron_variant MELA-AU 3 160178725 160178725 single base substitution G A intron_variant MELA-AU 3 160179149 160179149 single base substitution C A intron_variant MELA-AU 3 160179522 160179522 single base substitution G A intron_variant MELA-AU 3 160179573 160179573 single base substitution G A intron_variant MELA-AU 3 160179768 160179768 single base substitution C T intron_variant MELA-AU 3 160180129 160180129 single base substitution T C intron_variant MELA-AU 3 160180543 160180543 single base substitution A C intron_variant MELA-AU 3 160180664 160180664 single base substitution C T intron_variant MELA-AU 3 160180969 160180969 single base substitution G A intron_variant MELA-AU 3 160181144 160181144 single base substitution C T intron_variant MELA-AU 3 160181249 160181249 single base substitution G A intron_variant MELA-AU 3 160181353 160181353 single base substitution C T intron_variant MELA-AU 3 160181854 160181854 single base substitution C T intron_variant MELA-AU 3 160181893 160181893 single base substitution G A intron_variant MELA-AU 3 160181894 160181894 single base substitution G A intron_variant MELA-AU 3 160181991 160181991 single base substitution C A intron_variant MELA-AU 3 160182014 160182014 single base substitution G A intron_variant MELA-AU 3 160182079 160182079 single base substitution C T intron_variant MELA-AU 3 160182538 160182539 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 3 160182579 160182579 single base substitution C T intron_variant MELA-AU 3 160182872 160182872 single base substitution G A intron_variant MELA-AU 3 160183087 160183087 single base substitution C T intron_variant MELA-AU 3 160183865 160183865 single base substitution C T intron_variant MELA-AU 3 160184024 160184024 single base substitution C T intron_variant MELA-AU 3 160184033 160184033 single base substitution A G intron_variant MELA-AU 3 160184117 160184117 single base substitution G A intron_variant MELA-AU 3 160184377 160184377 single base substitution C T intron_variant MELA-AU 3 160184844 160184844 single base substitution C T intron_variant MELA-AU 3 160184989 160184989 single base substitution C T intron_variant MELA-AU 3 160185402 160185402 single base substitution C T intron_variant MELA-AU 3 160185466 160185466 single base substitution T C intron_variant MELA-AU 3 160185522 160185522 single base substitution C T intron_variant MELA-AU 3 160185566 160185566 single base substitution G A intron_variant MELA-AU 3 160185616 160185616 single base substitution G A intron_variant MELA-AU 3 160185751 160185751 single base substitution C T intron_variant MELA-AU 3 160185754 160185754 single base substitution C T intron_variant MELA-AU 3 160186017 160186017 single base substitution T G intron_variant MELA-AU 3 160186067 160186067 single base substitution C T intron_variant MELA-AU 3 160186134 160186134 single base substitution C T intron_variant MELA-AU 3 160186666 160186666 single base substitution T C intron_variant MELA-AU 3 160186748 160186748 single base substitution C T intron_variant MELA-AU 3 160186845 160186845 single base substitution T A intron_variant MELA-AU 3 160186929 160186929 single base substitution G A intron_variant MELA-AU 3 160186984 160186984 single base substitution C T intron_variant MELA-AU 3 160187015 160187015 single base substitution C T intron_variant MELA-AU 3 160187118 160187118 single base substitution C T intron_variant MELA-AU 3 160187149 160187149 single base substitution C T intron_variant MELA-AU 3 160187203 160187203 single base substitution C T intron_variant MELA-AU 3 160187331 160187331 single base substitution C T intron_variant MELA-AU 3 160187391 160187391 single base substitution C T intron_variant MELA-AU 3 160187400 160187400 single base substitution C T intron_variant MELA-AU 3 160187668 160187668 single base substitution C T intron_variant MELA-AU 3 160187710 160187710 single base substitution G A intron_variant MELA-AU 3 160187842 160187842 single base substitution C T intron_variant MELA-AU 3 160188064 160188064 single base substitution G A intron_variant MELA-AU 3 160188136 160188136 single base substitution G A intron_variant MELA-AU 3 160188696 160188696 single base substitution C T intron_variant MELA-AU 3 160188737 160188738 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 3 160188920 160188920 single base substitution A G intron_variant MELA-AU 3 160189266 160189266 single base substitution A G intron_variant MELA-AU 3 160189276 160189276 single base substitution C T intron_variant MELA-AU 3 160189283 160189283 single base substitution G A intron_variant MELA-AU 3 160189472 160189472 single base substitution C T intron_variant MELA-AU 3 160189579 160189579 single base substitution C T intron_variant MELA-AU 3 160189703 160189703 single base substitution C T intron_variant MELA-AU 3 160190109 160190109 single base substitution C T intron_variant MELA-AU 3 160190293 160190293 single base substitution G A intron_variant MELA-AU 3 160190338 160190338 single base substitution G A intron_variant MELA-AU 3 160190508 160190508 single base substitution C T intron_variant MELA-AU 3 160190574 160190574 single base substitution G A intron_variant MELA-AU 3 160191002 160191002 single base substitution C T intron_variant MELA-AU 3 160191135 160191135 single base substitution C A intron_variant MELA-AU 3 160191320 160191320 single base substitution C T intron_variant MELA-AU 3 160191718 160191718 single base substitution G A intron_variant MELA-AU 3 160191765 160191765 single base substitution C T intron_variant MELA-AU 3 160191767 160191767 single base substitution G A intron_variant MELA-AU 3 160192085 160192085 single base substitution C T intron_variant MELA-AU 3 160192199 160192199 single base substitution C T intron_variant MELA-AU 3 160192200 160192200 single base substitution C T intron_variant MELA-AU 3 160193350 160193350 single base substitution C T intron_variant MELA-AU 3 160193358 160193358 single base substitution C T intron_variant MELA-AU 3 160193503 160193503 single base substitution C T intron_variant MELA-AU 3 160193677 160193677 single base substitution G A intron_variant MELA-AU 3 160193950 160193950 single base substitution G A intron_variant MELA-AU 3 160194044 160194044 single base substitution G A intron_variant MELA-AU 3 160194395 160194395 single base substitution G A intron_variant MELA-AU 3 160194444 160194444 single base substitution G A intron_variant MELA-AU 3 160194588 160194588 single base substitution G A intron_variant MELA-AU 3 160194727 160194727 single base substitution C T intron_variant MELA-AU 3 160195092 160195092 single base substitution G A intron_variant MELA-AU 3 160195621 160195621 single base substitution G A intron_variant MELA-AU 3 160195855 160195855 single base substitution G A intron_variant MELA-AU 3 160195917 160195917 single base substitution C T intron_variant MELA-AU 3 160196604 160196605 multiple base substitution (>=2bp and <=200bp) TT AA intron_variant MELA-AU 3 160196636 160196636 single base substitution T A intron_variant MELA-AU 3 160196719 160196719 single base substitution G A intron_variant MELA-AU 3 160196847 160196847 single base substitution C T intron_variant MELA-AU 3 160196951 160196951 single base substitution C T intron_variant MELA-AU 3 160197403 160197403 single base substitution C T intron_variant MELA-AU 3 160197470 160197470 single base substitution G A intron_variant MELA-AU 3 160197673 160197673 single base substitution C T intron_variant MELA-AU 3 160197847 160197847 single base substitution G A intron_variant MELA-AU 3 160197899 160197899 single base substitution G A intron_variant MELA-AU 3 160198119 160198119 single base substitution G A intron_variant MELA-AU 3 160198380 160198380 single base substitution G A intron_variant MELA-AU 3 160198387 160198387 single base substitution G A intron_variant MELA-AU 3 160198470 160198470 single base substitution G A intron_variant MELA-AU 3 160198567 160198567 single base substitution G A intron_variant MELA-AU 3 160199226 160199226 single base substitution C T intron_variant MELA-AU 3 160199521 160199521 single base substitution G A intron_variant MELA-AU 3 160199650 160199650 single base substitution C T intron_variant MELA-AU 3 160199657 160199657 single base substitution C A intron_variant MELA-AU 3 160199723 160199723 single base substitution G A intron_variant MELA-AU 3 160199881 160199881 single base substitution C T intron_variant MELA-AU 3 160199992 160199992 single base substitution G A intron_variant MELA-AU 3 160200049 160200049 single base substitution G A intron_variant MELA-AU 3 160200272 160200272 single base substitution G A intron_variant MELA-AU 3 160200300 160200300 single base substitution C T intron_variant MELA-AU 3 160200344 160200344 single base substitution G A intron_variant MELA-AU 3 160200384 160200384 single base substitution C T intron_variant MELA-AU 3 160200861 160200861 single base substitution C T intron_variant MELA-AU 3 160200877 160200877 single base substitution C T intron_variant MELA-AU 3 160200972 160200972 single base substitution C T intron_variant MELA-AU 3 160201009 160201009 single base substitution C T intron_variant MELA-AU 3 160201436 160201436 single base substitution C T intron_variant MELA-AU 3 160201649 160201649 single base substitution G A intron_variant MELA-AU 3 160202023 160202023 single base substitution G A intron_variant MELA-AU 3 160202032 160202032 single base substitution A G intron_variant MELA-AU 3 160202100 160202100 single base substitution G A intron_variant MELA-AU 3 160202332 160202332 single base substitution G A intron_variant MELA-AU 3 160203189 160203189 single base substitution C T 5_prime_UTR_variant MELA-AU 3 160203374 160203374 single base substitution G A 5_prime_UTR_variant MELA-AU 3 160203576 160203576 single base substitution G A upstream_gene_variant MELA-AU 3 160203630 160203630 single base substitution G A upstream_gene_variant MELA-AU 3 160203786 160203786 single base substitution G A upstream_gene_variant MELA-AU 3 160206548 160206548 single base substitution A T upstream_gene_variant MELA-AU 3 160206737 160206737 single base substitution A T upstream_gene_variant MELA-AU 3 160207764 160207764 single base substitution C T upstream_gene_variant MELA-AU 3 160207909 160207909 single base substitution T A upstream_gene_variant MELA-AU 3 160207944 160207944 single base substitution G A upstream_gene_variant MELA-AU 3 160208007 160208007 single base substitution C A upstream_gene_variant ORCA-IN 3 160165256 160165256 single base substitution C G intron_variant ORCA-IN 3 160190642 160190642 single base substitution C T intron_variant OV-AU 3 160146014 160146014 single base substitution T A downstream_gene_variant OV-AU 3 160154428 160154428 single base substitution T G 3_prime_UTR_variant OV-AU 3 160154428 160154428 single base substitution T G downstream_gene_variant OV-AU 3 160154428 160154428 single base substitution T G intron_variant OV-AU 3 160154539 160154539 single base substitution T G 3_prime_UTR_variant OV-AU 3 160154539 160154539 single base substitution T G downstream_gene_variant OV-AU 3 160154539 160154539 single base substitution T G intron_variant OV-AU 3 160156004 160156004 single base substitution T C downstream_gene_variant OV-AU 3 160156004 160156004 single base substitution T C intron_variant OV-AU 3 160156004 160156004 single base substitution T C missense_variant E323G 968A>G OV-AU 3 160159680 160159680 single base substitution A G intron_variant OV-AU 3 160159935 160159935 single base substitution C G intron_variant OV-AU 3 160166564 160166564 single base substitution C A 5_prime_UTR_premature_start_codon_gain_variant OV-AU 3 160166564 160166564 single base substitution C A intron_variant OV-AU 3 160166564 160166564 single base substitution C A stop_gained G11* 31G>T OV-AU 3 160168810 160168810 single base substitution G A intron_variant OV-AU 3 160168810 160168810 single base substitution G A upstream_gene_variant OV-AU 3 160171268 160171268 single base substitution T G intron_variant OV-AU 3 160171268 160171268 single base substitution T G upstream_gene_variant OV-AU 3 160171804 160171804 single base substitution C A intron_variant OV-AU 3 160171804 160171804 single base substitution C A upstream_gene_variant OV-AU 3 160172116 160172116 single base substitution T C intron_variant OV-AU 3 160172116 160172116 single base substitution T C upstream_gene_variant OV-AU 3 160174283 160174283 single base substitution A T intron_variant OV-AU 3 160176572 160176572 single base substitution C T intron_variant OV-AU 3 160178185 160178185 single base substitution G T intron_variant OV-AU 3 160178186 160178186 single base substitution A T intron_variant OV-AU 3 160182802 160182802 single base substitution G C intron_variant OV-AU 3 160184722 160184722 single base substitution A C intron_variant OV-AU 3 160188569 160188569 single base substitution G T intron_variant OV-AU 3 160192310 160192310 single base substitution T A intron_variant OV-AU 3 160193298 160193298 single base substitution G A intron_variant OV-AU 3 160195293 160195293 single base substitution C G intron_variant OV-AU 3 160197674 160197674 single base substitution G A intron_variant OV-AU 3 160199643 160199643 single base substitution C T intron_variant OV-AU 3 160199951 160199951 single base substitution C G intron_variant OV-AU 3 160203996 160203996 single base substitution A G upstream_gene_variant OV-AU 3 160206820 160206820 single base substitution A C upstream_gene_variant OV-AU 3 160207278 160207278 single base substitution T A upstream_gene_variant PACA-AU 3 160159807 160159821 deletion of <=200bp AAATGTGTTTTTCAG - intron_variant PACA-AU 3 160167610 160167610 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant PACA-AU 3 160167610 160167610 single base substitution G A intron_variant PACA-AU 3 160167610 160167610 single base substitution G A upstream_gene_variant PACA-AU 3 160168783 160168783 single base substitution G A intron_variant PACA-AU 3 160168783 160168783 single base substitution G A upstream_gene_variant PACA-AU 3 160168951 160168951 single base substitution G C intron_variant PACA-AU 3 160168951 160168951 single base substitution G C upstream_gene_variant PACA-AU 3 160170162 160170162 single base substitution C T intron_variant PACA-AU 3 160170162 160170162 single base substitution C T upstream_gene_variant PACA-AU 3 160170615 160170615 single base substitution C T intron_variant PACA-AU 3 160170615 160170615 single base substitution C T upstream_gene_variant PACA-AU 3 160170981 160170981 single base substitution A C intron_variant PACA-AU 3 160170981 160170981 single base substitution A C upstream_gene_variant PACA-AU 3 160177749 160177749 single base substitution A T intron_variant PACA-AU 3 160179312 160179312 single base substitution G A intron_variant PACA-AU 3 160179987 160179987 single base substitution G A intron_variant PACA-AU 3 160183971 160183971 single base substitution C T intron_variant PACA-AU 3 160186379 160186379 single base substitution A T intron_variant PACA-AU 3 160196952 160196952 single base substitution C T intron_variant PACA-AU 3 160197426 160197426 single base substitution C T intron_variant PACA-AU 3 160203927 160203927 single base substitution C T upstream_gene_variant PACA-AU 3 160204407 160204408 deletion of <=200bp TT - upstream_gene_variant PACA-AU 3 160205648 160205648 single base substitution C T upstream_gene_variant PACA-AU 3 160206022 160206022 single base substitution C T upstream_gene_variant PACA-AU 3 160207338 160207338 single base substitution G A upstream_gene_variant PACA-AU 3 160207850 160207850 single base substitution T A upstream_gene_variant PACA-CA 3 160145632 160145632 single base substitution G C downstream_gene_variant PACA-CA 3 160148646 160148646 deletion of <=200bp A - downstream_gene_variant PACA-CA 3 160148651 160148651 insertion of <=200bp - TTTGTA downstream_gene_variant PACA-CA 3 160150733 160150733 single base substitution A G 3_prime_UTR_variant PACA-CA 3 160150733 160150733 single base substitution A G downstream_gene_variant PACA-CA 3 160152949 160152949 single base substitution C T 3_prime_UTR_variant PACA-CA 3 160152949 160152949 single base substitution C T downstream_gene_variant PACA-CA 3 160155167 160155171 deletion of <=200bp TACTC - 3_prime_UTR_variant PACA-CA 3 160155167 160155171 deletion of <=200bp TACTC - downstream_gene_variant PACA-CA 3 160155167 160155171 deletion of <=200bp TACTC - intron_variant PACA-CA 3 160155490 160155490 single base substitution A G 3_prime_UTR_variant PACA-CA 3 160155490 160155490 single base substitution A G downstream_gene_variant PACA-CA 3 160155490 160155490 single base substitution A G intron_variant PACA-CA 3 160156149 160156149 single base substitution C T downstream_gene_variant PACA-CA 3 160156149 160156149 single base substitution C T missense_variant V275I 823G>A PACA-CA 3 160157378 160157378 deletion of <=200bp C - intron_variant PACA-CA 3 160158970 160158970 single base substitution A C intron_variant PACA-CA 3 160161283 160161283 single base substitution C T intron_variant PACA-CA 3 160163833 160163833 single base substitution G T intron_variant PACA-CA 3 160174519 160174519 deletion of <=200bp A - intron_variant PACA-CA 3 160177362 160177362 single base substitution G T intron_variant PACA-CA 3 160179714 160179714 single base substitution G A intron_variant PACA-CA 3 160184043 160184043 insertion of <=200bp - A intron_variant PACA-CA 3 160184748 160184748 single base substitution C T intron_variant PACA-CA 3 160185028 160185028 single base substitution C T intron_variant PACA-CA 3 160188363 160188363 single base substitution A G intron_variant PACA-CA 3 160190303 160190303 single base substitution T C intron_variant PACA-CA 3 160196770 160196770 single base substitution A G intron_variant PACA-CA 3 160196952 160196952 single base substitution C A intron_variant PACA-CA 3 160199427 160199427 single base substitution G T intron_variant PACA-CA 3 160201907 160201907 single base substitution C T intron_variant PACA-CA 3 160202557 160202557 single base substitution G A intron_variant PACA-CA 3 160204091 160204091 single base substitution G A upstream_gene_variant PACA-CA 3 160205949 160205949 single base substitution T C upstream_gene_variant PAEN-AU 3 160162124 160162124 single base substitution C A intron_variant PAEN-IT 3 160186056 160186056 single base substitution G A intron_variant PBCA-DE 3 160150900 160150900 single base substitution C T 3_prime_UTR_variant PBCA-DE 3 160150900 160150900 single base substitution C T downstream_gene_variant PBCA-DE 3 160153359 160153359 single base substitution T C 3_prime_UTR_variant PBCA-DE 3 160153359 160153359 single base substitution T C downstream_gene_variant PBCA-DE 3 160170691 160170691 single base substitution G A intron_variant PBCA-DE 3 160170691 160170691 single base substitution G A upstream_gene_variant PBCA-DE 3 160172312 160172312 single base substitution C A intron_variant PBCA-DE 3 160172312 160172312 single base substitution C A upstream_gene_variant PBCA-DE 3 160172536 160172536 single base substitution G A intron_variant PBCA-DE 3 160172536 160172536 single base substitution G A upstream_gene_variant PBCA-DE 3 160179350 160179350 single base substitution G C intron_variant PBCA-DE 3 160184578 160184578 single base substitution C A intron_variant PBCA-DE 3 160188096 160188096 single base substitution G A intron_variant PBCA-DE 3 160192865 160192865 single base substitution C T intron_variant PBCA-DE 3 160207224 160207224 single base substitution C T upstream_gene_variant PRAD-CA 3 160193443 160193443 single base substitution G A intron_variant PRAD-CA 3 160201089 160201089 single base substitution A G intron_variant PRAD-CA 3 160207528 160207528 single base substitution C T upstream_gene_variant PRAD-UK 3 160150846 160150846 single base substitution T A 3_prime_UTR_variant PRAD-UK 3 160150846 160150846 single base substitution T A downstream_gene_variant PRAD-UK 3 160150959 160150959 single base substitution G T 3_prime_UTR_variant PRAD-UK 3 160150959 160150959 single base substitution G T downstream_gene_variant PRAD-UK 3 160151017 160151017 single base substitution T A 3_prime_UTR_variant PRAD-UK 3 160151017 160151017 single base substitution T A downstream_gene_variant PRAD-UK 3 160151211 160151211 single base substitution T A 3_prime_UTR_variant PRAD-UK 3 160151211 160151211 single base substitution T A downstream_gene_variant PRAD-UK 3 160152759 160152759 single base substitution C T 3_prime_UTR_variant PRAD-UK 3 160152759 160152759 single base substitution C T downstream_gene_variant PRAD-UK 3 160176235 160176235 single base substitution G A intron_variant PRAD-UK 3 160186368 160186368 single base substitution G A intron_variant PRAD-UK 3 160186369 160186369 single base substitution C A intron_variant PRAD-UK 3 160188689 160188695 deletion of <=200bp CCCACCT - intron_variant PRAD-UK 3 160198585 160198585 single base substitution T A intron_variant READ-US 3 160155940 160155940 single base substitution C T downstream_gene_variant READ-US 3 160155940 160155940 single base substitution C T intron_variant READ-US 3 160155940 160155940 single base substitution C T synonymous_variant S344S 1032G>A READ-US 3 160156353 160156353 single base substitution G C downstream_gene_variant READ-US 3 160156353 160156353 single base substitution G C missense_variant L207V 619C>G RECA-EU 3 160145866 160145866 single base substitution G A downstream_gene_variant RECA-EU 3 160146449 160146449 single base substitution G A downstream_gene_variant RECA-EU 3 160150228 160150228 single base substitution T C downstream_gene_variant RECA-EU 3 160155271 160155271 single base substitution A T 3_prime_UTR_variant RECA-EU 3 160155271 160155271 single base substitution A T downstream_gene_variant RECA-EU 3 160155271 160155271 single base substitution A T intron_variant RECA-EU 3 160167156 160167156 single base substitution A T intron_variant RECA-EU 3 160167156 160167156 single base substitution A T upstream_gene_variant RECA-EU 3 160174012 160174012 single base substitution G A intron_variant RECA-EU 3 160177126 160177126 single base substitution T C intron_variant RECA-EU 3 160188817 160188817 single base substitution C T intron_variant RECA-EU 3 160193282 160193282 single base substitution G A intron_variant RECA-EU 3 160198969 160198969 single base substitution T G intron_variant RECA-EU 3 160205417 160205417 single base substitution C G upstream_gene_variant RECA-EU 3 160207788 160207788 single base substitution T A upstream_gene_variant SKCA-BR 3 160145832 160145832 single base substitution G T downstream_gene_variant SKCA-BR 3 160147519 160147519 single base substitution C T downstream_gene_variant SKCA-BR 3 160147967 160147967 insertion of <=200bp - TAAGGAGGTAATAAGGGAG downstream_gene_variant SKCA-BR 3 160150187 160150187 single base substitution T G downstream_gene_variant SKCA-BR 3 160150192 160150192 single base substitution A T downstream_gene_variant SKCA-BR 3 160157143 160157143 single base substitution T C intron_variant SKCA-BR 3 160162913 160162913 single base substitution T A intron_variant SKCA-BR 3 160163841 160163841 single base substitution T C intron_variant SKCA-BR 3 160166511 160166511 single base substitution T C intron_variant SKCA-BR 3 160166511 160166511 single base substitution T C splice_region_variant SKCA-BR 3 160167219 160167219 single base substitution C T intron_variant SKCA-BR 3 160167219 160167219 single base substitution C T upstream_gene_variant SKCA-BR 3 160167677 160167677 single base substitution G A intron_variant SKCA-BR 3 160167677 160167677 single base substitution G A upstream_gene_variant SKCA-BR 3 160168297 160168297 single base substitution C T intron_variant SKCA-BR 3 160168297 160168297 single base substitution C T upstream_gene_variant SKCA-BR 3 160168571 160168571 single base substitution T C intron_variant SKCA-BR 3 160168571 160168571 single base substitution T C upstream_gene_variant SKCA-BR 3 160170859 160170859 single base substitution G A intron_variant SKCA-BR 3 160170859 160170859 single base substitution G A upstream_gene_variant SKCA-BR 3 160171718 160171718 single base substitution G A intron_variant SKCA-BR 3 160171718 160171718 single base substitution G A upstream_gene_variant SKCA-BR 3 160174425 160174425 single base substitution G A intron_variant SKCA-BR 3 160175215 160175215 single base substitution C T intron_variant SKCA-BR 3 160176330 160176330 single base substitution C T intron_variant SKCA-BR 3 160176462 160176462 single base substitution G A intron_variant SKCA-BR 3 160178806 160178806 single base substitution C T intron_variant SKCA-BR 3 160179741 160179741 single base substitution G A intron_variant SKCA-BR 3 160180515 160180516 deletion of <=200bp GT - intron_variant SKCA-BR 3 160180559 160180559 single base substitution G A intron_variant SKCA-BR 3 160180599 160180599 single base substitution G A intron_variant SKCA-BR 3 160181227 160181227 single base substitution G A intron_variant SKCA-BR 3 160182856 160182863 deletion of <=200bp CCAGGTTA - intron_variant SKCA-BR 3 160184225 160184225 single base substitution G A intron_variant SKCA-BR 3 160184463 160184463 single base substitution G A intron_variant SKCA-BR 3 160185327 160185327 single base substitution C T intron_variant SKCA-BR 3 160185350 160185350 single base substitution T G intron_variant SKCA-BR 3 160185791 160185791 single base substitution C T intron_variant SKCA-BR 3 160186287 160186287 single base substitution G A intron_variant SKCA-BR 3 160186637 160186637 single base substitution C T intron_variant SKCA-BR 3 160187179 160187179 single base substitution C T intron_variant SKCA-BR 3 160188087 160188087 single base substitution G A intron_variant SKCA-BR 3 160188169 160188169 single base substitution C T intron_variant SKCA-BR 3 160188433 160188433 single base substitution G A intron_variant SKCA-BR 3 160189294 160189294 single base substitution A G intron_variant SKCA-BR 3 160189582 160189582 single base substitution C T intron_variant SKCA-BR 3 160194044 160194044 single base substitution G A intron_variant SKCA-BR 3 160199223 160199223 single base substitution C T intron_variant SKCA-BR 3 160199765 160199765 single base substitution G A intron_variant SKCA-BR 3 160201856 160201856 single base substitution G A intron_variant SKCA-BR 3 160203395 160203395 single base substitution C T 5_prime_UTR_variant SKCA-BR 3 160207431 160207432 deletion of <=200bp TA - upstream_gene_variant SKCA-BR 3 160207741 160207741 single base substitution G A upstream_gene_variant SKCM-US 3 160150895 160150895 single base substitution A G 3_prime_UTR_variant SKCM-US 3 160150895 160150895 single base substitution A G downstream_gene_variant SKCM-US 3 160155970 160155970 single base substitution T C downstream_gene_variant SKCM-US 3 160155970 160155970 single base substitution T C intron_variant SKCM-US 3 160155970 160155970 single base substitution T C synonymous_variant V334V 1002A>G SKCM-US 3 160156874 160156874 single base substitution C T missense_variant C33Y 98G>A SKCM-US 3 160156874 160156874 single base substitution C T missense_variant C40Y 119G>A SKCM-US 3 160156874 160156874 single base substitution C T missense_variant C61Y 182G>A STAD-US 3 160146611 160146611 single base substitution A G downstream_gene_variant STAD-US 3 160148502 160148502 single base substitution G A downstream_gene_variant STAD-US 3 160150302 160150302 single base substitution A G 3_prime_UTR_variant STAD-US 3 160150302 160150302 single base substitution A G downstream_gene_variant STAD-US 3 160150896 160150896 single base substitution T G 3_prime_UTR_variant STAD-US 3 160150896 160150896 single base substitution T G downstream_gene_variant STAD-US 3 160151539 160151539 single base substitution A C 3_prime_UTR_variant STAD-US 3 160151539 160151539 single base substitution A C downstream_gene_variant STAD-US 3 160155773 160155773 insertion of <=200bp - G downstream_gene_variant STAD-US 3 160155773 160155773 insertion of <=200bp - G frameshift_variant I400I? STAD-US 3 160155773 160155773 insertion of <=200bp - G intron_variant STAD-US 3 160155774 160155774 insertion of <=200bp - G downstream_gene_variant STAD-US 3 160155774 160155774 insertion of <=200bp - G frameshift_variant I400T? STAD-US 3 160155774 160155774 insertion of <=200bp - G intron_variant STAD-US 3 160155817 160155817 single base substitution T C downstream_gene_variant STAD-US 3 160155817 160155817 single base substitution T C intron_variant STAD-US 3 160155817 160155817 single base substitution T C missense_variant I385M 1155A>G STAD-US 3 160156198 160156198 single base substitution G A downstream_gene_variant STAD-US 3 160156198 160156198 single base substitution G A synonymous_variant R258R 774C>T STAD-US 3 160156416 160156416 single base substitution G C downstream_gene_variant STAD-US 3 160156416 160156416 single base substitution G C missense_variant L186V 556C>G UCEC-US 3 160146550 160146550 single base substitution C A downstream_gene_variant UCEC-US 3 160148931 160148931 single base substitution C A downstream_gene_variant UCEC-US 3 160149471 160149471 single base substitution T G downstream_gene_variant UCEC-US 3 160149510 160149510 single base substitution C T downstream_gene_variant UCEC-US 3 160150250 160150250 single base substitution C T 3_prime_UTR_variant UCEC-US 3 160150250 160150250 single base substitution C T downstream_gene_variant UCEC-US 3 160150823 160150823 single base substitution A G 3_prime_UTR_variant UCEC-US 3 160150823 160150823 single base substitution A G downstream_gene_variant UCEC-US 3 160150988 160150988 single base substitution T G 3_prime_UTR_variant UCEC-US 3 160150988 160150988 single base substitution T G downstream_gene_variant UCEC-US 3 160151484 160151484 single base substitution C T 3_prime_UTR_variant UCEC-US 3 160151484 160151484 single base substitution C T downstream_gene_variant UCEC-US 3 160151506 160151506 single base substitution C T 3_prime_UTR_variant UCEC-US 3 160151506 160151506 single base substitution C T downstream_gene_variant UCEC-US 3 160155852 160155853 deletion of <=200bp TT - downstream_gene_variant UCEC-US 3 160155852 160155853 deletion of <=200bp TT - frameshift_variant QS373 UCEC-US 3 160155852 160155853 deletion of <=200bp TT - intron_variant UCEC-US 3 160155873 160155873 single base substitution C T downstream_gene_variant UCEC-US 3 160155873 160155873 single base substitution C T intron_variant UCEC-US 3 160155873 160155873 single base substitution C T missense_variant A367T 1099G>A UCEC-US 3 160156108 160156110 deletion of <=200bp TTC - downstream_gene_variant UCEC-US 3 160156108 160156110 deletion of <=200bp TTC - inframe_deletion E288 UCEC-US 3 160156301 160156301 single base substitution C A downstream_gene_variant UCEC-US 3 160156301 160156301 single base substitution C A missense_variant R224I 671G>T UCEC-US 3 160156378 160156378 single base substitution C A downstream_gene_variant UCEC-US 3 160156378 160156378 single base substitution C A missense_variant Q198H 594G>T UCEC-US 3 160156383 160156383 single base substitution C A downstream_gene_variant UCEC-US 3 160156383 160156383 single base substitution C A stop_gained E197* 589G>T UCEC-US 3 160156467 160156467 single base substitution C A downstream_gene_variant UCEC-US 3 160156467 160156467 single base substitution C A stop_gained E169* 505G>T UCEC-US 3 160156497 160156497 single base substitution C A downstream_gene_variant UCEC-US 3 160156497 160156497 single base substitution C A missense_variant D159Y 475G>T UCEC-US 3 160156628 160156628 single base substitution A C downstream_gene_variant UCEC-US 3 160156628 160156628 single base substitution A C stop_gained L115* 344T>G UCEC-US 3 160156628 160156628 single base substitution A C stop_gained L143* 428T>G UCEC-US 3 160156820 160156820 single base substitution C T missense_variant R51Q 152G>A UCEC-US 3 160156820 160156820 single base substitution C T missense_variant R58Q 173G>A UCEC-US 3 160156820 160156820 single base substitution C T missense_variant R79Q 236G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PD14441a COSM5767802 c.1109C>T p.S370F Substitution - Missense 3:160438075-160438075 - LIM1215 COSM111521 c.604delA p.S202fs*3 Deletion - Frameshift 3:160438580-160438580 - TCGA-DD-A73E-01 COSM4913095 c.672A>T p.R224S Substitution - Missense 3:160438512-160438512 - T3152 COSM111521 c.604delA p.S202fs*3 Deletion - Frameshift 3:160438580-160438580 - T155 COSM1040635 c.152G>A p.R51Q Substitution - Missense 3:160439032-160439032 - 993TCS COSM673658 c.503A>C p.K168T Substitution - Missense 3:160438681-160438681 - SK-MEL-28 COSM1670676 c.141G>A p.W47* Substitution - Nonsense 3:160439043-160439043 - ACINAR01 COSM111521 c.604delA p.S202fs*3 Deletion - Frameshift 3:160438580-160438580 - TCGA-E9-A22E-01 COSM1484807 c.488T>G p.L163R Substitution - Missense 3:160438696-160438696 - ICGC_0016 COSM1158734 c.988_989insG p.L330fs*29 Insertion - Frameshift 3:160438195-160438196 - 169 COSM111521 c.604delA p.S202fs*3 Deletion - Frameshift 3:160438580-160438580 - CCK81 COSM111521 c.604delA p.S202fs*3 Deletion - Frameshift 3:160438580-160438580 - 228 COSM4426120 c.277G>C p.D93H Substitution - Missense 3:160438907-160438907 - CSCC-45-T COSM4547412 c.421G>A p.E141K Substitution - Missense 3:160438763-160438763 - C135 COSM111521 c.604delA p.S202fs*3 Deletion - Frameshift 3:160438580-160438580 - BCB167T COSM4798837 c.923C>T p.S308F Substitution - Missense 3:160438261-160438261 - LS180 COSM111521 c.604delA p.S202fs*3 Deletion - Frameshift 3:160438580-160438580 - C70 COSM4619554 c.299A>G p.H100R Substitution - Missense 3:160438885-160438885 - BD49T COSM3006143 c.459T>C p.T153T Substitution - coding silent 3:160438725-160438725 - 6115237 COSM5548600 c.409G>A p.A137T Substitution - Missense 3:160438775-160438775 - Pat_46_B COSM5863834 c.922T>G p.S308A Substitution - Missense 3:160438262-160438262 - HCC18T COSM1617145 c.958G>C p.D320H Substitution - Missense 3:160438226-160438226 - SW48 COSM3006133 c.712C>T p.L238L Substitution - coding silent 3:160438472-160438472 - TCGA-D1-A17Q-01 COSM1040628 c.671G>T p.R224I Substitution - Missense 3:160438513-160438513 - 88 COSM5014389 c.637C>G p.L213V Substitution - Missense 3:160438547-160438547 - TCGA-BS-A0TC-01 COSM1040630 c.594G>T p.Q198H Substitution - Missense 3:160438590-160438590 - SJACT005_D COSM4968049 c.515C>G p.S172C Substitution - Missense 3:160438669-160438669 - TCGA-EB-A44P-01 COSM3589441 c.1002A>G p.V334V Substitution - coding silent 3:160438182-160438182 - RKO COSM111521 c.604delA p.S202fs*3 Deletion - Frameshift 3:160438580-160438580 - TCGA-EE-A29B-06 COSM3589442 c.98G>A p.C33Y Substitution - Missense 3:160439086-160439086 - TCGA-EK-A3GK-01 COSM4854499 c.1105C>G p.L369V Substitution - Missense 3:160438079-160438079 - TCGA-B5-A0K3-01 COSM1040629 c.642T>G p.I214M Substitution - Missense 3:160438542-160438542 - TCGA-AP-A0LM-01 COSM1040635 c.152G>A p.R51Q Substitution - Missense 3:160439032-160439032 - TCGA-AO-A128-01 COSM3846641 c.363T>C p.L121L Substitution - coding silent 3:160438821-160438821 - TCGA-B5-A11N-01 COSM1040631 c.589G>T p.E197* Substitution - Nonsense 3:160438595-160438595 - TCGA-AP-A056-01 COSM1040635 c.152G>A p.R51Q Substitution - Missense 3:160439032-160439032 - TCGA-06-0185 COSM2150499 c.811G>A p.E271K Substitution - Missense 3:160438373-160438373 - Gp5D COSM111521 c.604delA p.S202fs*3 Deletion - Frameshift 3:160438580-160438580 - TCGA-BI-A0VR-01 COSM460867 c.733G>C p.E245Q Substitution - Missense 3:160438451-160438451 - TCGA-BT-A0YX-01 COSM419732 c.115C>T p.Q39* Substitution - Nonsense 3:160439069-160439069 - 8012424 COSM1168985 c.989_990insG p.N331fs*28 Insertion - Frameshift 3:160438194-160438195 - TCGA-AM-5821-01 COSM3759850 c.21G>A p.E7E Substitution - coding silent 3:160439163-160439163 - PCSI_0083_Pa_P COSM3380454 c.823G>A p.V275I Substitution - Missense 3:160438361-160438361 - PCSI_0083_Pa_P_526 COSM3380454 c.823G>A p.V275I Substitution - Missense 3:160438361-160438361 - RK072_C01 COSM1632949 c.157C>A p.P53T Substitution - Missense 3:160439027-160439027 - 2951_CLM COSM5756204 c.746A>C p.K249T Substitution - Missense 3:160438438-160438438 - PD5935a COSM5771990 c.776A>C p.Q259P Substitution - Missense 3:160438408-160438408 - sysucc-1150T COSM5452544 c.328C>G p.L110V Substitution - Missense 3:160438856-160438856 - TCGA-A3-3358-01 COSM479645 c.176G>A p.C59Y Substitution - Missense 3:160439008-160439008 - TCGA-IR-A3LK-01 COSM4817486 c.521C>T p.S174F Substitution - Missense 3:160438663-160438663 - TCGA-UB-A7MB-01 COSM4931896 c.174T>C p.N58N Substitution - coding silent 3:160439010-160439010 - TCGA-DK-A1AB-01 COSM419733 c.215C>G p.S72C Substitution - Missense 3:160438969-160438969 - ESCC_131 COSM165142 c.722C>A p.S241Y Substitution - Missense 3:160438462-160438462 - PT21_2 COSM5901286 c.140G>A p.W47* Substitution - Nonsense 3:160439044-160439044 - SNU-C2B COSM111521 c.604delA p.S202fs*3 Deletion - Frameshift 3:160438580-160438580 - RK072_C01 COSM1632948 c.158C>A p.P53Q Substitution - Missense 3:160439026-160439026 - TCGA-FD-A3SS-01 COSM3774689 c.179G>A p.R60K Substitution - Missense 3:160439005-160439005 - TCGA-BR-6452-01 COSM4114923 c.1155A>G p.I385M Substitution - Missense 3:160438029-160438029 - BD239T COSM5497065 c.675G>A p.M225I Substitution - Missense 3:160438509-160438509 - YUMOBER COSM5398539 c.1059A>G p.I353M Substitution - Missense 3:160438125-160438125 - TCGA-DK-A1A5-01 COSM419734 c.621C>T p.L207L Substitution - coding silent 3:160438563-160438563 - Mel18 COSM1670676 c.141G>A p.W47* Substitution - Nonsense 3:160439043-160439043 - LIM1899 COSM111521 c.604delA p.S202fs*3 Deletion - Frameshift 3:160438580-160438580 - TCGA-AP-A056-01 COSM1040632 c.505G>T p.E169* Substitution - Nonsense 3:160438679-160438679 - EWS502 COSM4584075 c.674T>C p.M225T Substitution - Missense 3:160438510-160438510 - TCGA-F5-6814-01 COSM3427271 c.1032G>A p.S344S Substitution - coding silent 3:160438152-160438152 - TCGA-CD-A4MG-01 COSM4114924 c.774C>T p.R258R Substitution - coding silent 3:160438410-160438410 - 578 COSM3723972 c.379C>T p.H127Y Substitution - Missense 3:160438805-160438805 - TCGA-AR-A0TX-01 COSM445882 c.1135C>T p.L379L Substitution - coding silent 3:160438049-160438049 - TCGA-13-1408-01 COSM111521 c.604delA p.S202fs*3 Deletion - Frameshift 3:160438580-160438580 - TCGA-BG-A0W1-01 COSM1040626 c.862_864delGAA p.E288delE Deletion - In frame 3:160438320-160438322 - T3091 COSM4736177 c.342delA p.K114fs*2 Deletion - Frameshift 3:160438842-160438842 - Pat_08_B COSM5157680 c.604_605insA p.S202fs*8 Insertion - Frameshift 3:160438579-160438580 - TCGA-EP-A2KA-01 COSM4917579 c.1018G>C p.V340L Substitution - Missense 3:160438166-160438166 - TCGA-AN-A046-01 COSM3846640 c.839G>A p.R280Q Substitution - Missense 3:160438345-160438345 - TCGA-D1-A15W-01 COSM1040627 c.836C>A p.P279H Substitution - Missense 3:160438348-160438348 - STC246 COSM111521 c.604delA p.S202fs*3 Deletion - Frameshift 3:160438580-160438580 - HCC2998 COSM3006123 c.1133G>A p.S378N Substitution - Missense 3:160438051-160438051 - TCGA-A5-A0GP-01 COSM1040635 c.152G>A p.R51Q Substitution - Missense 3:160439032-160439032 - HCA7 COSM111521 c.604delA p.S202fs*3 Deletion - Frameshift 3:160438580-160438580 - TCGA-AF-6136-01 COSM1566613 c.619C>G p.L207V Substitution - Missense 3:160438565-160438565 - TCGA-AP-A0LM-01 COSM1040633 c.475G>T p.D159Y Substitution - Missense 3:160438709-160438709 - PD4098a COSM165142 c.722C>A p.S241Y Substitution - Missense 3:160438462-160438462 - LS411 COSM111521 c.604delA p.S202fs*3 Deletion - Frameshift 3:160438580-160438580 - TCGA-AG-A002-01 COSM264194 c.649G>A p.E217K Substitution - Missense 3:160438535-160438535 - D3 COSM5006687 c.772C>T p.R258C Substitution - Missense 3:160438412-160438412 - PCSI_0083_Pa_X COSM3380454 c.823G>A p.V275I Substitution - Missense 3:160438361-160438361 - TCGA-AP-A0LM-01 COSM1040625 c.1099G>A p.A367T Substitution - Missense 3:160438085-160438085 - tumor_4119279 COSM4320513 c.595A>G p.K199E Substitution - Missense 3:160438589-160438589 - LS174T COSM111521 c.604delA p.S202fs*3 Deletion - Frameshift 3:160438580-160438580 - 12-P8001 COSM4584076 c.384T>C p.G128G Substitution - coding silent 3:160438800-160438800 - LIM1215 COSM4320508 c.1124T>C p.L375S Substitution - Missense 3:160438060-160438060 - LOVO COSM111521 c.604delA p.S202fs*3 Deletion - Frameshift 3:160438580-160438580 - BCB167T COSM4798837 c.923C>T p.S308F Substitution - Missense 3:160438261-160438261 - Pat_46_A COSM5863834 c.922T>G p.S308A Substitution - Missense 3:160438262-160438262 - Gp2D COSM111521 c.604delA p.S202fs*3 Deletion - Frameshift 3:160438580-160438580 - ESCC_131 COSM5642263 c.700G>C p.E234Q Substitution - Missense 3:160438484-160438484 - TCGA-FJ-A3ZE-01 COSM3774688 c.283G>T p.V95F Substitution - Missense 3:160438901-160438901 - TCGA-D5-6930-01 COSM1420326 c.813G>A p.E271E Substitution - coding silent 3:160438371-160438371 - HCC18 COSM1617145 c.958G>C p.D320H Substitution - Missense 3:160438226-160438226 - TCGA-06-0185-01 COSM2150499 c.811G>A p.E271K Substitution - Missense 3:160438373-160438373 - 426 COSM4432919 c.377A>T p.H126L Substitution - Missense 3:160438807-160438807 - TCGA-60-2721-01 COSM729419 c.1107A>G p.L369L Substitution - coding silent 3:160438077-160438077 - TCGA-D7-5578-01 COSM4114925 c.556C>G p.L186V Substitution - Missense 3:160438628-160438628 - TCGA-DI-A0WH-01 COSM1040624 c.1119_1120delAA p.S374fs*3 Deletion - Frameshift 3:160438064-160438065 - AOCS-120-3-6 COSM4137029 c.968A>G p.E323G Substitution - Missense 3:160438216-160438216 - TCGA-BS-A0UF-01 COSM1040634 c.344T>G p.L115* Substitution - Nonsense 3:160438840-160438840 - TCGA-AK-3436-01 COSM1136973 c.646C>G p.Q216E Substitution - Missense 3:160438538-160438538 - HT115 COSM3006121 c.1166T>C p.I389T Substitution - Missense 3:160438018-160438018 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.212957 3q25.33

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 5-UTRSNV . c.1-10574T>C 3 160167545 CLL - C Frameshift p.L330Vfs*29 c.987_988insG 3 160155984 PAAD C T Nonsense p.W398* c.1193G>A 3 160155779 CM C T Synonymous p.Q232Q c.696G>A 3 160156276 CM G A 3-UTRSNV . c.1209+13C>T 3 160155750 CM G T Missense p.S241Y c.722C>A 3 160156250 BRCA T C Synonymous p.L369L c.1107A>G 3 160155865 LUSC T G Synonymous p.I353I c.1059A>C 3 160155913 CM TT - Frameshift p.S374Ffs*3 c.1119_1120delAA 3 160155852 UCEC