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 16 48395835 48395835 + Missense_Mutation SNP C C T TCGA-DK-A6B6-01A-11D-A30E-08 TCGA-DK-A6B6-10A-01D-A30H-08 g.chr16:48395835C>T c.505G>A c.(505-507)Gac>Aac p.D169N BLCA 16 48396342 48396342 + Splice_Site SNP C C T TCGA-XF-A9SI-01A-11D-A391-08 TCGA-XF-A9SI-10A-01D-A394-08 g.chr16:48396342C>T c.e2-1 BLCA 16 48399335 48399336 + Intron INS - - A TCGA-FD-A3SJ-01A-12D-A22Z-08 TCGA-FD-A3SJ-10A-01D-A22Z-08 g.chr16:48399335_48399336insA BRCA 16 48395618 48395618 + Missense_Mutation SNP C C T TCGA-AN-A046-01A-21W-A050-09 TCGA-AN-A046-10A-01W-A055-09 g.chr16:48395618C>T c.722G>A c.(721-723)cGa>cAa p.R241Q BRCA 16 48396255 48396255 + Missense_Mutation SNP T T C TCGA-E2-A109-01A-11D-A10M-09 TCGA-E2-A109-10A-01D-A10M-09 g.chr16:48396255T>C c.85A>G c.(85-87)Act>Gct p.T29A BRCA 16 48396330 48396330 + Nonsense_Mutation SNP G G A TCGA-A7-A13D-01A-13D-A272-09 TCGA-A7-A13D-10A-02D-A272-09 g.chr16:48396330G>A c.10C>T c.(10-12)Cag>Tag p.Q4* COAD 16 48395626 48395626 + Silent SNP C C T TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr16:48395626C>T c.714G>A c.(712-714)gcG>gcA p.A238A COAD 16 48395627 48395627 + Missense_Mutation SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr16:48395627G>A c.713C>T c.(712-714)gCg>gTg p.A238V COAD 16 48395897 48395897 + Missense_Mutation SNP A A T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr16:48395897A>T c.443T>A c.(442-444)cTg>cAg p.L148Q COADREAD 16 48395626 48395626 + Silent SNP C C T TCGA-DM-A1D6-01A-21D-A152-10 TCGA-DM-A1D6-10A-01D-A152-10 g.chr16:48395626C>T c.714G>A c.(712-714)gcG>gcA p.A238A COADREAD 16 48395627 48395627 + Missense_Mutation SNP G G A TCGA-AA-A00R-01A-01W-A005-10 TCGA-AA-A00R-10A-01W-A005-10 g.chr16:48395627G>A c.713C>T c.(712-714)gCg>gTg p.A238V COADREAD 16 48395897 48395897 + Missense_Mutation SNP A A T TCGA-AD-6964-01A-11D-1924-10 TCGA-AD-6964-10A-01D-1924-10 g.chr16:48395897A>T c.443T>A c.(442-444)cTg>cAg p.L148Q COADREAD 16 48396298 48396298 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:48396298C>T c.42G>A c.(40-42)tcG>tcA p.S14S ESCA 16 48396037 48396037 + Silent SNP C C T TCGA-LN-A4A6-01A-11D-A27G-09 TCGA-LN-A4A6-10A-01D-A27G-09 g.chr16:48396037C>T c.303G>A c.(301-303)gcG>gcA p.A101A GBMLGG 16 48395776 48395776 + Missense_Mutation SNP G G C TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 g.chr16:48395776G>C c.564C>G c.(562-564)caC>caG p.H188Q GBMLGG 16 48396115 48396115 + Nonsense_Mutation SNP G G T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 g.chr16:48396115G>T c.225C>A c.(223-225)tgC>tgA p.C75* GBMLGG 16 48396193 48396193 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:48396193T>C c.147A>G c.(145-147)ttA>ttG p.L49L GBMLGG 16 48396223 48396224 + Frame_Shift_Del DEL AA AA - TCGA-HT-7677-01A-11D-2253-08 TCGA-HT-7677-10A-01D-2253-08 g.chr16:48396223_48396224delAA c.116_117delTT c.(115-117)tttfs p.F39fs GBMLGG 16 48399314 48399314 + Intron SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 g.chr16:48399314C>T HNSC 16 48395697 48395697 + Missense_Mutation SNP G G A TCGA-CV-7091-01A-11D-2012-08 TCGA-CV-7091-10A-01D-2013-08 g.chr16:48395697G>A c.643C>T c.(643-645)Cgc>Tgc p.R215C HNSC 16 48396084 48396084 + Missense_Mutation SNP C C T TCGA-C9-A480-01A-12D-A24D-08 TCGA-C9-A480-10A-01D-A24F-08 g.chr16:48396084C>T c.256G>A c.(256-258)Gct>Act p.A86T HNSC 16 48396174 48396174 + Nonsense_Mutation SNP G G A TCGA-CV-A6K2-01A-11D-A31L-08 TCGA-CV-A6K2-10A-01D-A31J-08 g.chr16:48396174G>A c.166C>T c.(166-168)Cag>Tag p.Q56* HNSC 16 48396241 48396241 + Missense_Mutation SNP A A C TCGA-H7-8502-01A-11D-2394-08 TCGA-H7-8502-10A-01D-2394-08 g.chr16:48396241A>C c.99T>G c.(97-99)aaT>aaG p.N33K HNSC 16 48399304 48399304 + Intron SNP T T A TCGA-CN-6995-01A-31D-2012-08 TCGA-CN-6995-10A-01D-2013-08 g.chr16:48399304T>A HNSC 16 48399363 48399363 + Intron SNP G G A TCGA-CN-5359-01A-01D-1434-08 TCGA-CN-5359-10A-01D-1434-08 g.chr16:48399363G>A KIPAN 16 48395959 48395959 + Silent SNP G G A TCGA-UZ-A9PK-01A-11D-A382-10 TCGA-UZ-A9PK-10A-01D-A385-10 g.chr16:48395959G>A c.381C>T c.(379-381)tcC>tcT p.S127S KIPAN 16 48396058 48396058 + Silent SNP T T A TCGA-B0-4697-01A-01D-1361-10 TCGA-B0-4697-11A-01D-1361-10 g.chr16:48396058T>A c.282A>T c.(280-282)gtA>gtT p.V94V KIRC 16 48396058 48396058 + Silent SNP T T A TCGA-B0-4697-01A-01D-1361-10 TCGA-B0-4697-11A-01D-1361-10 g.chr16:48396058T>A c.282A>T c.(280-282)gtA>gtT p.V94V KIRP 16 48395959 48395959 + Silent SNP G G A TCGA-UZ-A9PK-01A-11D-A382-10 TCGA-UZ-A9PK-10A-01D-A385-10 g.chr16:48395959G>A c.381C>T c.(379-381)tcC>tcT p.S127S LGG 16 48395776 48395776 + Missense_Mutation SNP G G C TCGA-S9-A6UA-01A-12D-A33T-08 TCGA-S9-A6UA-10A-01D-A33W-08 g.chr16:48395776G>C c.564C>G c.(562-564)caC>caG p.H188Q LGG 16 48396115 48396115 + Nonsense_Mutation SNP G G T TCGA-S9-A6TS-01A-12D-A33T-08 TCGA-S9-A6TS-10A-01D-A33W-08 g.chr16:48396115G>T c.225C>A c.(223-225)tgC>tgA p.C75* LGG 16 48396193 48396193 + Silent SNP T T C TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr16:48396193T>C c.147A>G c.(145-147)ttA>ttG p.L49L LGG 16 48396223 48396224 + Frame_Shift_Del DEL AA AA - TCGA-HT-7677-01A-11D-2253-08 TCGA-HT-7677-10A-01D-2253-08 g.chr16:48396223_48396224delAA c.116_117delTT c.(115-117)tttfs p.F39fs LGG 16 48399314 48399314 + Intron SNP C C T TCGA-DU-A7T6-01A-11D-A33T-08 TCGA-DU-A7T6-10A-01D-A33W-08 g.chr16:48399314C>T LIHC 16 48395633 48395644 + In_Frame_Del DEL CAAGTCAATCGT CAAGTCAATCGT - TCGA-DD-A1EA-01A-11D-A12Z-10 TCGA-DD-A1EA-10A-01D-A12Z-10 g.chr16:48395633_48395644delCAAGTCAATCGT c.696_707delACGATTGACTTG c.(694-708)cgacgattgacttgg>cgg p.RLTW233del LIHC 16 48395979 48395979 + Missense_Mutation SNP A A G TCGA-DD-A39Z-01A-11D-A20W-10 TCGA-DD-A39Z-11A-21D-A20W-10 g.chr16:48395979A>G c.361T>C c.(361-363)Tgt>Cgt p.C121R LIHC 16 48395984 48395984 + Missense_Mutation SNP T T G TCGA-LG-A6GG-01A-11D-A30V-10 TCGA-LG-A6GG-10A-01D-A30V-10 g.chr16:48395984T>G c.356A>C c.(355-357)gAg>gCg p.E119A LIHC 16 48396330 48396330 + Nonsense_Mutation SNP G G A TCGA-DD-A4NK-01A-11D-A28X-10 TCGA-DD-A4NK-10A-01D-A28X-10 g.chr16:48396330G>A c.10C>T c.(10-12)Cag>Tag p.Q4* LUAD 16 48395996 48395996 + Missense_Mutation SNP G G C TCGA-97-8179-01A-11D-2284-08 TCGA-97-8179-10A-01D-2284-08 g.chr16:48395996G>C c.344C>G c.(343-345)gCa>gGa p.A115G LUSC 16 48395889 48395889 + Missense_Mutation SNP G G C TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr16:48395889G>C c.451C>G c.(451-453)Cag>Gag p.Q151E OV 16 48396301 48396301 + Silent SNP G G C TCGA-25-1318-01A-01W-0490-10 TCGA-25-1318-10A-01W-0490-10 g.chr16:48396301G>C c.39C>G c.(37-39)acC>acG p.T13T READ 16 48396298 48396298 + Silent SNP C C T TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr16:48396298C>T c.42G>A c.(40-42)tcG>tcA p.S14S

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 16 48386630 48386630 single base substitution G C downstream_gene_variant BRCA-EU 16 48387185 48387185 single base substitution G C downstream_gene_variant BRCA-EU 16 48387195 48387195 single base substitution T C downstream_gene_variant BRCA-EU 16 48389727 48389727 insertion of <=200bp - T downstream_gene_variant BRCA-EU 16 48392791 48392791 single base substitution C T downstream_gene_variant BRCA-EU 16 48392791 48392791 single base substitution C T intron_variant BRCA-EU 16 48393349 48393349 single base substitution C T downstream_gene_variant BRCA-EU 16 48393349 48393349 single base substitution C T intron_variant BRCA-EU 16 48393986 48393986 single base substitution A G downstream_gene_variant BRCA-EU 16 48393986 48393986 single base substitution A G intron_variant BRCA-EU 16 48394002 48394018 deletion of <=200bp TTAAGTATCTACCATAA - downstream_gene_variant BRCA-EU 16 48394002 48394018 deletion of <=200bp TTAAGTATCTACCATAA - intron_variant BRCA-EU 16 48394968 48394968 single base substitution G C 3_prime_UTR_variant BRCA-EU 16 48394968 48394968 single base substitution G C downstream_gene_variant BRCA-EU 16 48394968 48394968 single base substitution G C intron_variant BRCA-EU 16 48395300 48395300 single base substitution G A 3_prime_UTR_variant BRCA-EU 16 48395300 48395300 single base substitution G A downstream_gene_variant BRCA-EU 16 48395300 48395300 single base substitution G A intron_variant BRCA-EU 16 48395314 48395314 single base substitution T A 3_prime_UTR_variant BRCA-EU 16 48395314 48395314 single base substitution T A downstream_gene_variant BRCA-EU 16 48395314 48395314 single base substitution T A intron_variant BRCA-EU 16 48395404 48395404 single base substitution G T 3_prime_UTR_variant BRCA-EU 16 48395404 48395404 single base substitution G T downstream_gene_variant BRCA-EU 16 48395404 48395404 single base substitution G T exon_variant BRCA-EU 16 48395481 48395481 single base substitution G C 3_prime_UTR_variant BRCA-EU 16 48395481 48395481 single base substitution G C downstream_gene_variant BRCA-EU 16 48395481 48395481 single base substitution G C exon_variant BRCA-EU 16 48395487 48395487 single base substitution C A 3_prime_UTR_variant BRCA-EU 16 48395487 48395487 single base substitution C A downstream_gene_variant BRCA-EU 16 48395487 48395487 single base substitution C A exon_variant BRCA-EU 16 48395501 48395501 single base substitution G T downstream_gene_variant BRCA-EU 16 48395501 48395501 single base substitution G T exon_variant BRCA-EU 16 48395501 48395501 single base substitution G T missense_variant S280Y 839C>A BRCA-EU 16 48395501 48395501 single base substitution G T missense_variant S311Y 932C>A BRCA-EU 16 48395652 48395652 single base substitution G C downstream_gene_variant BRCA-EU 16 48395652 48395652 single base substitution G C exon_variant BRCA-EU 16 48395652 48395652 single base substitution G C missense_variant H230D 688C>G BRCA-EU 16 48395652 48395652 single base substitution G C missense_variant H261D 781C>G BRCA-EU 16 48395725 48395725 single base substitution G C downstream_gene_variant BRCA-EU 16 48395725 48395725 single base substitution G C exon_variant BRCA-EU 16 48395725 48395725 single base substitution G C missense_variant F205L 615C>G BRCA-EU 16 48395725 48395725 single base substitution G C missense_variant F236L 708C>G BRCA-EU 16 48395725 48395725 single base substitution G C upstream_gene_variant BRCA-EU 16 48395764 48395764 single base substitution G C downstream_gene_variant BRCA-EU 16 48395764 48395764 single base substitution G C exon_variant BRCA-EU 16 48395764 48395764 single base substitution G C synonymous_variant V192V 576C>G BRCA-EU 16 48395764 48395764 single base substitution G C synonymous_variant V223V 669C>G BRCA-EU 16 48395764 48395764 single base substitution G C upstream_gene_variant BRCA-EU 16 48395826 48395826 single base substitution G C downstream_gene_variant BRCA-EU 16 48395826 48395826 single base substitution G C exon_variant BRCA-EU 16 48395826 48395826 single base substitution G C missense_variant L172V 514C>G BRCA-EU 16 48395826 48395826 single base substitution G C missense_variant L203V 607C>G BRCA-EU 16 48395826 48395826 single base substitution G C upstream_gene_variant BRCA-EU 16 48396435 48396435 single base substitution T G 5_prime_UTR_variant BRCA-EU 16 48396435 48396435 single base substitution T G downstream_gene_variant BRCA-EU 16 48396435 48396435 single base substitution T G intron_variant BRCA-EU 16 48396435 48396435 single base substitution T G upstream_gene_variant BRCA-EU 16 48397071 48397071 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 16 48397071 48397071 single base substitution G A downstream_gene_variant BRCA-EU 16 48397071 48397071 single base substitution G A intron_variant BRCA-EU 16 48397071 48397071 single base substitution G A upstream_gene_variant BRCA-EU 16 48401205 48401205 single base substitution A G intron_variant BRCA-EU 16 48401205 48401205 single base substitution A G upstream_gene_variant BRCA-EU 16 48402219 48402219 single base substitution G A intron_variant BRCA-EU 16 48402219 48402219 single base substitution G A upstream_gene_variant BRCA-EU 16 48404926 48404926 single base substitution G A intron_variant BRCA-EU 16 48405486 48405486 single base substitution G C intron_variant BRCA-EU 16 48405918 48405919 deletion of <=200bp AC - intron_variant BRCA-EU 16 48409550 48409550 deletion of <=200bp A - intron_variant BRCA-EU 16 48410637 48410637 single base substitution G C intron_variant BRCA-EU 16 48410650 48410650 insertion of <=200bp - AA intron_variant BRCA-EU 16 48411975 48411975 single base substitution A T intron_variant BRCA-EU 16 48413661 48413661 single base substitution C T intron_variant BRCA-EU 16 48414692 48414692 single base substitution A T intron_variant BRCA-EU 16 48417956 48417956 single base substitution G C downstream_gene_variant BRCA-EU 16 48417956 48417956 single base substitution G C intron_variant BRCA-EU 16 48418104 48418104 single base substitution C T downstream_gene_variant BRCA-EU 16 48418104 48418104 single base substitution C T intron_variant BRCA-EU 16 48418118 48418118 single base substitution G A downstream_gene_variant BRCA-EU 16 48418118 48418118 single base substitution G A intron_variant BRCA-EU 16 48421411 48421411 single base substitution G C intron_variant BRCA-EU 16 48421411 48421411 single base substitution G C upstream_gene_variant BRCA-EU 16 48424389 48424389 single base substitution A G intron_variant BRCA-EU 16 48424436 48424436 single base substitution G A intron_variant BRCA-EU 16 48425538 48425538 deletion of <=200bp A - intron_variant BRCA-EU 16 48426745 48426745 single base substitution G A 5_prime_UTR_variant BRCA-EU 16 48426745 48426745 single base substitution G A intron_variant BRCA-EU 16 48428093 48428093 single base substitution G C intron_variant BRCA-EU 16 48428093 48428093 single base substitution G C upstream_gene_variant BRCA-EU 16 48428234 48428234 single base substitution G A intron_variant BRCA-EU 16 48428234 48428234 single base substitution G A upstream_gene_variant BRCA-EU 16 48428741 48428741 single base substitution G A intron_variant BRCA-EU 16 48428741 48428741 single base substitution G A upstream_gene_variant BRCA-EU 16 48428948 48428948 single base substitution C T intron_variant BRCA-EU 16 48428948 48428948 single base substitution C T upstream_gene_variant BRCA-EU 16 48428999 48428999 single base substitution G A intron_variant BRCA-EU 16 48428999 48428999 single base substitution G A upstream_gene_variant BRCA-EU 16 48429184 48429184 single base substitution C T intron_variant BRCA-EU 16 48429184 48429184 single base substitution C T upstream_gene_variant BRCA-EU 16 48429257 48429257 single base substitution G T intron_variant BRCA-EU 16 48429257 48429257 single base substitution G T upstream_gene_variant BRCA-EU 16 48429747 48429747 single base substitution G T intron_variant BRCA-EU 16 48429747 48429747 single base substitution G T upstream_gene_variant BRCA-EU 16 48431408 48431408 single base substitution C A intron_variant BRCA-EU 16 48431408 48431408 single base substitution C A upstream_gene_variant BRCA-EU 16 48432099 48432099 single base substitution G C intron_variant BRCA-EU 16 48432099 48432099 single base substitution G C upstream_gene_variant BRCA-EU 16 48432192 48432192 single base substitution G C intron_variant BRCA-EU 16 48432192 48432192 single base substitution G C upstream_gene_variant BRCA-EU 16 48433452 48433452 single base substitution G T intron_variant BRCA-EU 16 48434061 48434061 single base substitution G C intron_variant BRCA-EU 16 48434093 48434093 single base substitution G T intron_variant BRCA-EU 16 48435251 48435251 insertion of <=200bp - G intron_variant BRCA-EU 16 48435986 48435986 single base substitution C T intron_variant BRCA-EU 16 48438446 48438446 single base substitution G A intron_variant BRCA-EU 16 48439164 48439164 single base substitution C A intron_variant BRCA-EU 16 48439879 48439879 single base substitution C A intron_variant BRCA-EU 16 48440077 48440077 single base substitution C G intron_variant BRCA-EU 16 48440187 48440187 single base substitution C A intron_variant BRCA-EU 16 48440255 48440255 single base substitution C G intron_variant BRCA-EU 16 48440810 48440810 single base substitution G T intron_variant BRCA-EU 16 48440984 48440984 single base substitution G C intron_variant BRCA-EU 16 48441343 48441343 single base substitution G C intron_variant BRCA-EU 16 48442684 48442684 single base substitution A G intron_variant BRCA-EU 16 48443005 48443005 single base substitution T A intron_variant BRCA-EU 16 48444071 48444071 single base substitution T A intron_variant BRCA-EU 16 48444460 48444460 single base substitution C T intron_variant BRCA-EU 16 48446161 48446161 single base substitution G C intron_variant BRCA-EU 16 48446347 48446347 single base substitution G A intron_variant BRCA-EU 16 48447798 48447798 single base substitution C G intron_variant BRCA-EU 16 48448196 48448196 single base substitution C T intron_variant BRCA-EU 16 48448874 48448874 single base substitution G C intron_variant BRCA-EU 16 48449149 48449149 single base substitution G A intron_variant BRCA-EU 16 48449253 48449253 single base substitution G A intron_variant BRCA-EU 16 48451135 48451135 single base substitution G A exon_variant BRCA-EU 16 48451135 48451135 single base substitution G A intron_variant BRCA-EU 16 48451804 48451804 single base substitution C T intron_variant BRCA-EU 16 48451804 48451804 single base substitution C T upstream_gene_variant BRCA-EU 16 48451836 48451836 single base substitution A C intron_variant BRCA-EU 16 48451836 48451836 single base substitution A C upstream_gene_variant BRCA-EU 16 48452241 48452241 single base substitution G C intron_variant BRCA-EU 16 48452241 48452241 single base substitution G C upstream_gene_variant BRCA-EU 16 48452659 48452659 single base substitution A T intron_variant BRCA-EU 16 48452659 48452659 single base substitution A T upstream_gene_variant BRCA-EU 16 48452837 48452837 single base substitution G A intron_variant BRCA-EU 16 48452837 48452837 single base substitution G A upstream_gene_variant BRCA-EU 16 48454183 48454183 single base substitution G A intron_variant BRCA-EU 16 48454183 48454183 single base substitution G A upstream_gene_variant BRCA-EU 16 48454248 48454248 single base substitution C T intron_variant BRCA-EU 16 48454248 48454248 single base substitution C T upstream_gene_variant BRCA-EU 16 48454413 48454413 insertion of <=200bp - AG intron_variant BRCA-EU 16 48454413 48454413 insertion of <=200bp - AG upstream_gene_variant BRCA-EU 16 48455310 48455310 single base substitution A T intron_variant BRCA-EU 16 48455310 48455310 single base substitution A T upstream_gene_variant BRCA-EU 16 48455312 48455312 single base substitution C G intron_variant BRCA-EU 16 48455312 48455312 single base substitution C G upstream_gene_variant BRCA-EU 16 48456508 48456508 single base substitution C G intron_variant BRCA-EU 16 48457172 48457172 deletion of <=200bp T - intron_variant BRCA-EU 16 48458955 48458955 single base substitution C T intron_variant BRCA-EU 16 48458958 48458958 single base substitution C A intron_variant BRCA-EU 16 48459755 48459755 single base substitution C A intron_variant BRCA-EU 16 48460025 48460025 single base substitution C T intron_variant BRCA-EU 16 48461280 48461280 single base substitution G C intron_variant BRCA-EU 16 48461282 48461282 single base substitution G C intron_variant BRCA-EU 16 48463204 48463204 single base substitution A G intron_variant BRCA-EU 16 48463508 48463508 single base substitution T A intron_variant BRCA-EU 16 48464543 48464543 single base substitution C A intron_variant BRCA-EU 16 48466173 48466173 single base substitution G A intron_variant BRCA-EU 16 48466287 48466287 single base substitution A C intron_variant BRCA-EU 16 48467005 48467005 single base substitution G A intron_variant BRCA-EU 16 48468564 48468564 single base substitution C G intron_variant BRCA-EU 16 48468842 48468842 single base substitution G A intron_variant BRCA-EU 16 48469002 48469002 single base substitution C G intron_variant BRCA-EU 16 48469728 48469728 single base substitution C T intron_variant BRCA-EU 16 48469949 48469949 single base substitution C T intron_variant BRCA-EU 16 48469995 48469995 single base substitution C G intron_variant BRCA-EU 16 48470857 48470857 single base substitution G C intron_variant BRCA-EU 16 48472411 48472411 single base substitution G A intron_variant BRCA-EU 16 48472820 48472820 single base substitution G A intron_variant BRCA-EU 16 48472972 48472972 single base substitution T G intron_variant BRCA-EU 16 48475278 48475278 single base substitution C G intron_variant BRCA-EU 16 48477219 48477219 single base substitution G A intron_variant BRCA-EU 16 48477594 48477594 single base substitution A C intron_variant BRCA-EU 16 48477759 48477759 single base substitution G A intron_variant BRCA-EU 16 48477895 48477895 single base substitution G C intron_variant BRCA-EU 16 48479154 48479154 single base substitution G A intron_variant BRCA-EU 16 48479735 48479736 deletion of <=200bp CA - intron_variant BRCA-EU 16 48480438 48480438 single base substitution C T intron_variant BRCA-EU 16 48481161 48481161 single base substitution G C intron_variant BRCA-EU 16 48481381 48481381 single base substitution C T 5_prime_UTR_variant BRCA-EU 16 48481531 48481531 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 16 48484735 48484735 insertion of <=200bp - A upstream_gene_variant BRCA-FR 16 48390068 48390068 single base substitution G A downstream_gene_variant BRCA-FR 16 48428093 48428093 single base substitution G C intron_variant BRCA-FR 16 48428093 48428093 single base substitution G C upstream_gene_variant BRCA-FR 16 48428999 48428999 single base substitution G A intron_variant BRCA-FR 16 48428999 48428999 single base substitution G A upstream_gene_variant BRCA-FR 16 48429257 48429257 single base substitution G T intron_variant BRCA-FR 16 48429257 48429257 single base substitution G T upstream_gene_variant BRCA-FR 16 48429747 48429747 single base substitution G T intron_variant BRCA-FR 16 48429747 48429747 single base substitution G T upstream_gene_variant BRCA-FR 16 48432099 48432099 single base substitution G C intron_variant BRCA-FR 16 48432099 48432099 single base substitution G C upstream_gene_variant BRCA-FR 16 48432192 48432192 single base substitution G C intron_variant BRCA-FR 16 48432192 48432192 single base substitution G C upstream_gene_variant BRCA-FR 16 48438468 48438468 single base substitution C T intron_variant BRCA-FR 16 48440187 48440187 single base substitution C A intron_variant BRCA-FR 16 48444460 48444460 single base substitution C T intron_variant BRCA-FR 16 48446161 48446161 single base substitution G C intron_variant BRCA-FR 16 48448874 48448874 single base substitution G C intron_variant BRCA-FR 16 48452837 48452837 single base substitution G A intron_variant BRCA-FR 16 48452837 48452837 single base substitution G A upstream_gene_variant BRCA-FR 16 48454183 48454183 single base substitution G A intron_variant BRCA-FR 16 48454183 48454183 single base substitution G A upstream_gene_variant BRCA-FR 16 48456600 48456600 single base substitution T C intron_variant BRCA-FR 16 48466173 48466173 single base substitution G A intron_variant BRCA-FR 16 48477219 48477219 single base substitution G A intron_variant BRCA-FR 16 48477895 48477895 single base substitution G C intron_variant BRCA-FR 16 48479154 48479154 single base substitution G A intron_variant BRCA-FR 16 48486532 48486532 single base substitution C T upstream_gene_variant BRCA-KR 16 48395450 48395450 single base substitution T A 3_prime_UTR_variant BRCA-KR 16 48395450 48395450 single base substitution T A downstream_gene_variant BRCA-KR 16 48395450 48395450 single base substitution T A exon_variant BRCA-UK 16 48461282 48461282 single base substitution G C intron_variant BRCA-UK 16 48469995 48469995 single base substitution C G intron_variant BRCA-UK 16 48480438 48480438 single base substitution C T intron_variant BRCA-US 16 48395618 48395618 single base substitution C T downstream_gene_variant BRCA-US 16 48395618 48395618 single base substitution C T exon_variant BRCA-US 16 48395618 48395618 single base substitution C T missense_variant R241Q 722G>A BRCA-US 16 48395618 48395618 single base substitution C T missense_variant R272Q 815G>A BRCA-US 16 48396255 48396255 single base substitution T C downstream_gene_variant BRCA-US 16 48396255 48396255 single base substitution T C exon_variant BRCA-US 16 48396255 48396255 single base substitution T C missense_variant T29A 85A>G BRCA-US 16 48396255 48396255 single base substitution T C missense_variant T60A 178A>G BRCA-US 16 48396255 48396255 single base substitution T C upstream_gene_variant BRCA-US 16 48396330 48396330 single base substitution G A downstream_gene_variant BRCA-US 16 48396330 48396330 single base substitution G A exon_variant BRCA-US 16 48396330 48396330 single base substitution G A stop_gained Q35* 103C>T BRCA-US 16 48396330 48396330 single base substitution G A stop_gained Q4* 10C>T BRCA-US 16 48396330 48396330 single base substitution G A upstream_gene_variant BTCA-JP 16 48395344 48395344 single base substitution C T 3_prime_UTR_variant BTCA-JP 16 48395344 48395344 single base substitution C T downstream_gene_variant BTCA-JP 16 48395344 48395344 single base substitution C T intron_variant BTCA-JP 16 48395619 48395619 single base substitution G A downstream_gene_variant BTCA-JP 16 48395619 48395619 single base substitution G A exon_variant BTCA-JP 16 48395619 48395619 single base substitution G A stop_gained R241* 721C>T BTCA-JP 16 48395619 48395619 single base substitution G A stop_gained R272* 814C>T CESC-US 16 48385529 48385529 single base substitution G C downstream_gene_variant CESC-US 16 48385539 48385539 single base substitution G A downstream_gene_variant CLLE-ES 16 48385482 48385482 single base substitution C G downstream_gene_variant CLLE-ES 16 48393074 48393074 single base substitution G A downstream_gene_variant CLLE-ES 16 48393074 48393074 single base substitution G A intron_variant CLLE-ES 16 48415451 48415451 single base substitution G A intron_variant CLLE-ES 16 48420873 48420873 single base substitution C G downstream_gene_variant CLLE-ES 16 48420873 48420873 single base substitution C G intron_variant CLLE-ES 16 48420873 48420873 single base substitution C G upstream_gene_variant CLLE-ES 16 48446105 48446105 single base substitution A C intron_variant CLLE-ES 16 48470411 48470411 single base substitution T C intron_variant CLLE-ES 16 48473153 48473153 single base substitution C A intron_variant COAD-US 16 48395626 48395626 single base substitution C T downstream_gene_variant COAD-US 16 48395626 48395626 single base substitution C T exon_variant COAD-US 16 48395626 48395626 single base substitution C T synonymous_variant A238A 714G>A COAD-US 16 48395626 48395626 single base substitution C T synonymous_variant A269A 807G>A COAD-US 16 48395897 48395897 single base substitution A T downstream_gene_variant COAD-US 16 48395897 48395897 single base substitution A T exon_variant COAD-US 16 48395897 48395897 single base substitution A T missense_variant L148Q 443T>A COAD-US 16 48395897 48395897 single base substitution A T missense_variant L179Q 536T>A COAD-US 16 48395897 48395897 single base substitution A T upstream_gene_variant COAD-US 16 48396098 48396098 single base substitution G T downstream_gene_variant COAD-US 16 48396098 48396098 single base substitution G T exon_variant COAD-US 16 48396098 48396098 single base substitution G T missense_variant S112Y 335C>A COAD-US 16 48396098 48396098 single base substitution G T missense_variant S81Y 242C>A COAD-US 16 48396098 48396098 single base substitution G T upstream_gene_variant COCA-CN 16 48385477 48385477 single base substitution T G downstream_gene_variant COCA-CN 16 48395343 48395343 single base substitution C A 3_prime_UTR_variant COCA-CN 16 48395343 48395343 single base substitution C A downstream_gene_variant COCA-CN 16 48395343 48395343 single base substitution C A intron_variant COCA-CN 16 48395742 48395742 single base substitution C T downstream_gene_variant COCA-CN 16 48395742 48395742 single base substitution C T exon_variant COCA-CN 16 48395742 48395742 single base substitution C T missense_variant D200N 598G>A COCA-CN 16 48395742 48395742 single base substitution C T missense_variant D231N 691G>A COCA-CN 16 48395742 48395742 single base substitution C T upstream_gene_variant EOPC-DE 16 48430439 48430439 single base substitution G A intron_variant EOPC-DE 16 48430439 48430439 single base substitution G A upstream_gene_variant EOPC-DE 16 48483409 48483409 single base substitution G T upstream_gene_variant ESAD-UK 16 48385985 48385985 single base substitution A C downstream_gene_variant ESAD-UK 16 48388491 48388491 insertion of <=200bp - C downstream_gene_variant ESAD-UK 16 48389888 48389888 single base substitution C T downstream_gene_variant ESAD-UK 16 48390500 48390500 deletion of <=200bp T - downstream_gene_variant ESAD-UK 16 48390500 48390500 deletion of <=200bp T - intron_variant ESAD-UK 16 48390943 48390943 single base substitution A C downstream_gene_variant ESAD-UK 16 48390943 48390943 single base substitution A C intron_variant ESAD-UK 16 48392328 48392328 single base substitution T G downstream_gene_variant ESAD-UK 16 48392328 48392328 single base substitution T G intron_variant ESAD-UK 16 48395857 48395857 single base substitution C T downstream_gene_variant ESAD-UK 16 48395857 48395857 single base substitution C T exon_variant ESAD-UK 16 48395857 48395857 single base substitution C T synonymous_variant E161E 483G>A ESAD-UK 16 48395857 48395857 single base substitution C T synonymous_variant E192E 576G>A ESAD-UK 16 48395857 48395857 single base substitution C T upstream_gene_variant ESAD-UK 16 48396204 48396208 deletion of <=200bp CAAAG - downstream_gene_variant ESAD-UK 16 48396204 48396208 deletion of <=200bp CAAAG - exon_variant ESAD-UK 16 48396204 48396208 deletion of <=200bp CAAAG - frameshift_variant CFD44 ESAD-UK 16 48396204 48396208 deletion of <=200bp CAAAG - frameshift_variant CFD75 ESAD-UK 16 48396204 48396208 deletion of <=200bp CAAAG - upstream_gene_variant ESAD-UK 16 48396487 48396487 single base substitution T C 5_prime_UTR_premature_start_codon_gain_variant ESAD-UK 16 48396487 48396487 single base substitution T C downstream_gene_variant ESAD-UK 16 48396487 48396487 single base substitution T C intron_variant ESAD-UK 16 48396487 48396487 single base substitution T C upstream_gene_variant ESAD-UK 16 48397058 48397058 single base substitution C T 5_prime_UTR_variant ESAD-UK 16 48397058 48397058 single base substitution C T downstream_gene_variant ESAD-UK 16 48397058 48397058 single base substitution C T intron_variant ESAD-UK 16 48397058 48397058 single base substitution C T upstream_gene_variant ESAD-UK 16 48401465 48401465 single base substitution T G intron_variant ESAD-UK 16 48401465 48401465 single base substitution T G upstream_gene_variant ESAD-UK 16 48402632 48402632 single base substitution C T intron_variant ESAD-UK 16 48402632 48402632 single base substitution C T upstream_gene_variant ESAD-UK 16 48404300 48404300 single base substitution T C intron_variant ESAD-UK 16 48404300 48404300 single base substitution T C upstream_gene_variant ESAD-UK 16 48407473 48407473 single base substitution C G intron_variant ESAD-UK 16 48408249 48408249 single base substitution A T intron_variant ESAD-UK 16 48408965 48408965 single base substitution G T intron_variant ESAD-UK 16 48409220 48409220 single base substitution C T intron_variant ESAD-UK 16 48412929 48412929 single base substitution G T intron_variant ESAD-UK 16 48415163 48415163 single base substitution C T intron_variant ESAD-UK 16 48415747 48415747 single base substitution A T intron_variant ESAD-UK 16 48415893 48415893 single base substitution C G intron_variant ESAD-UK 16 48415903 48415903 single base substitution C G intron_variant ESAD-UK 16 48417856 48417856 single base substitution C A downstream_gene_variant ESAD-UK 16 48417856 48417856 single base substitution C A intron_variant ESAD-UK 16 48417973 48417973 single base substitution G A downstream_gene_variant ESAD-UK 16 48417973 48417973 single base substitution G A intron_variant ESAD-UK 16 48421567 48421567 single base substitution C A intron_variant ESAD-UK 16 48421567 48421567 single base substitution C A upstream_gene_variant ESAD-UK 16 48424060 48424060 single base substitution G A intron_variant ESAD-UK 16 48424060 48424060 single base substitution G A upstream_gene_variant ESAD-UK 16 48424948 48424948 single base substitution G A intron_variant ESAD-UK 16 48426082 48426082 single base substitution T A intron_variant ESAD-UK 16 48428216 48428216 single base substitution T C intron_variant ESAD-UK 16 48428216 48428216 single base substitution T C upstream_gene_variant ESAD-UK 16 48430010 48430010 single base substitution A G intron_variant ESAD-UK 16 48430010 48430010 single base substitution A G upstream_gene_variant ESAD-UK 16 48430605 48430605 single base substitution C T intron_variant ESAD-UK 16 48430605 48430605 single base substitution C T upstream_gene_variant ESAD-UK 16 48431974 48431974 single base substitution T C intron_variant ESAD-UK 16 48431974 48431974 single base substitution T C upstream_gene_variant ESAD-UK 16 48432631 48432631 single base substitution A G intron_variant ESAD-UK 16 48432631 48432631 single base substitution A G upstream_gene_variant ESAD-UK 16 48433342 48433342 single base substitution C T intron_variant ESAD-UK 16 48433852 48433852 single base substitution C A intron_variant ESAD-UK 16 48434005 48434005 single base substitution C T intron_variant ESAD-UK 16 48434315 48434315 single base substitution G A intron_variant ESAD-UK 16 48438638 48438638 single base substitution G A intron_variant ESAD-UK 16 48439506 48439506 single base substitution G C intron_variant ESAD-UK 16 48441636 48441636 single base substitution C T intron_variant ESAD-UK 16 48442803 48442803 single base substitution T C intron_variant ESAD-UK 16 48446088 48446088 single base substitution C A intron_variant ESAD-UK 16 48448840 48448840 insertion of <=200bp - T intron_variant ESAD-UK 16 48450065 48450065 single base substitution A G intron_variant ESAD-UK 16 48450576 48450576 single base substitution G A intron_variant ESAD-UK 16 48452268 48452268 single base substitution C A intron_variant ESAD-UK 16 48452268 48452268 single base substitution C A upstream_gene_variant ESAD-UK 16 48454122 48454122 single base substitution C T intron_variant ESAD-UK 16 48454122 48454122 single base substitution C T upstream_gene_variant ESAD-UK 16 48455374 48455374 single base substitution T G intron_variant ESAD-UK 16 48455374 48455374 single base substitution T G upstream_gene_variant ESAD-UK 16 48456041 48456041 single base substitution C T intron_variant ESAD-UK 16 48456041 48456041 single base substitution C T upstream_gene_variant ESAD-UK 16 48456345 48456345 single base substitution A G intron_variant ESAD-UK 16 48456909 48456909 single base substitution A C intron_variant ESAD-UK 16 48457424 48457424 single base substitution C A intron_variant ESAD-UK 16 48458071 48458071 single base substitution G T intron_variant ESAD-UK 16 48460053 48460053 single base substitution T G intron_variant ESAD-UK 16 48461362 48461362 single base substitution G A intron_variant ESAD-UK 16 48467526 48467526 single base substitution C T intron_variant ESAD-UK 16 48467741 48467741 single base substitution C T intron_variant ESAD-UK 16 48469286 48469286 single base substitution T A intron_variant ESAD-UK 16 48469823 48469823 single base substitution C T intron_variant ESAD-UK 16 48472118 48472118 single base substitution G A intron_variant ESAD-UK 16 48474272 48474272 single base substitution C G intron_variant ESAD-UK 16 48474982 48474982 single base substitution A T intron_variant ESAD-UK 16 48476081 48476081 single base substitution C T intron_variant ESAD-UK 16 48476135 48476135 single base substitution C T intron_variant ESAD-UK 16 48476829 48476829 single base substitution G T intron_variant ESAD-UK 16 48477445 48477445 single base substitution G A intron_variant ESAD-UK 16 48478181 48478181 single base substitution T C intron_variant ESAD-UK 16 48478200 48478200 single base substitution A T intron_variant ESAD-UK 16 48478817 48478817 deletion of <=200bp T - intron_variant ESAD-UK 16 48478930 48478930 single base substitution T A intron_variant ESAD-UK 16 48480144 48480144 single base substitution G A intron_variant ESAD-UK 16 48481220 48481220 single base substitution A T intron_variant ESAD-UK 16 48481520 48481520 single base substitution G A 5_prime_UTR_variant ESAD-UK 16 48484105 48484105 single base substitution C A upstream_gene_variant ESAD-UK 16 48484106 48484106 single base substitution T A upstream_gene_variant ESAD-UK 16 48485302 48485302 single base substitution G C upstream_gene_variant ESAD-UK 16 48485455 48485455 single base substitution G T upstream_gene_variant ESAD-UK 16 48486369 48486369 single base substitution G T upstream_gene_variant GACA-CN 16 48395970 48395970 single base substitution T G downstream_gene_variant GACA-CN 16 48395970 48395970 single base substitution T G exon_variant GACA-CN 16 48395970 48395970 single base substitution T G synonymous_variant R124R 370A>C GACA-CN 16 48395970 48395970 single base substitution T G synonymous_variant R155R 463A>C GACA-CN 16 48395970 48395970 single base substitution T G upstream_gene_variant KIRC-US 16 48385510 48385510 single base substitution A G downstream_gene_variant KIRC-US 16 48396058 48396058 single base substitution T A downstream_gene_variant KIRC-US 16 48396058 48396058 single base substitution T A exon_variant KIRC-US 16 48396058 48396058 single base substitution T A synonymous_variant V125V 375A>T KIRC-US 16 48396058 48396058 single base substitution T A synonymous_variant V94V 282A>T KIRC-US 16 48396058 48396058 single base substitution T A upstream_gene_variant KIRP-US 16 48385617 48385617 single base substitution T C downstream_gene_variant LAML-KR 16 48463802 48463802 single base substitution C T intron_variant LGG-US 16 48396223 48396224 deletion of <=200bp AA - downstream_gene_variant LGG-US 16 48396223 48396224 deletion of <=200bp AA - exon_variant LGG-US 16 48396223 48396224 deletion of <=200bp AA - frameshift_variant F39 LGG-US 16 48396223 48396224 deletion of <=200bp AA - frameshift_variant F70 LGG-US 16 48396223 48396224 deletion of <=200bp AA - upstream_gene_variant LICA-FR 16 48395599 48395599 single base substitution A C downstream_gene_variant LICA-FR 16 48395599 48395599 single base substitution A C exon_variant LICA-FR 16 48395599 48395599 single base substitution A C missense_variant I247M 741T>G LICA-FR 16 48395599 48395599 single base substitution A C missense_variant I278M 834T>G LICA-FR 16 48395814 48395814 single base substitution C T downstream_gene_variant LICA-FR 16 48395814 48395814 single base substitution C T exon_variant LICA-FR 16 48395814 48395814 single base substitution C T missense_variant V176I 526G>A LICA-FR 16 48395814 48395814 single base substitution C T missense_variant V207I 619G>A LICA-FR 16 48395814 48395814 single base substitution C T upstream_gene_variant LICA-FR 16 48397140 48397140 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant LICA-FR 16 48397140 48397140 single base substitution A C downstream_gene_variant LICA-FR 16 48397140 48397140 single base substitution A C intron_variant LICA-FR 16 48397140 48397140 single base substitution A C upstream_gene_variant LICA-FR 16 48415814 48415814 single base substitution C T intron_variant LICA-FR 16 48426497 48426497 single base substitution G A intron_variant LICA-FR 16 48426588 48426588 single base substitution G C intron_variant LICA-FR 16 48439799 48439799 single base substitution C T intron_variant LICA-FR 16 48443706 48443706 deletion of <=200bp T - intron_variant LICA-FR 16 48451526 48451526 single base substitution G A intron_variant LICA-FR 16 48451526 48451526 single base substitution G A upstream_gene_variant LICA-FR 16 48454805 48454806 deletion of <=200bp AA - intron_variant LICA-FR 16 48454805 48454806 deletion of <=200bp AA - upstream_gene_variant LICA-FR 16 48457260 48457260 single base substitution T G intron_variant LICA-FR 16 48474217 48474217 single base substitution G C intron_variant LICA-FR 16 48486848 48486848 single base substitution T C upstream_gene_variant LIHC-US 16 48395633 48395644 deletion of <=200bp CAAGTCAATCGT - disruptive_inframe_deletion RRLTW232R LIHC-US 16 48395633 48395644 deletion of <=200bp CAAGTCAATCGT - disruptive_inframe_deletion RRLTW263R LIHC-US 16 48395633 48395644 deletion of <=200bp CAAGTCAATCGT - downstream_gene_variant LIHC-US 16 48395633 48395644 deletion of <=200bp CAAGTCAATCGT - exon_variant LIHC-US 16 48395984 48395984 single base substitution T G downstream_gene_variant LIHC-US 16 48395984 48395984 single base substitution T G exon_variant LIHC-US 16 48395984 48395984 single base substitution T G missense_variant E119A 356A>C LIHC-US 16 48395984 48395984 single base substitution T G missense_variant E150A 449A>C LIHC-US 16 48395984 48395984 single base substitution T G upstream_gene_variant LIHC-US 16 48396330 48396330 single base substitution G A downstream_gene_variant LIHC-US 16 48396330 48396330 single base substitution G A exon_variant LIHC-US 16 48396330 48396330 single base substitution G A stop_gained Q35* 103C>T LIHC-US 16 48396330 48396330 single base substitution G A stop_gained Q4* 10C>T LIHC-US 16 48396330 48396330 single base substitution G A upstream_gene_variant LINC-JP 16 48387373 48387373 single base substitution C T downstream_gene_variant LINC-JP 16 48399204 48399204 single base substitution T A intron_variant LINC-JP 16 48399204 48399204 single base substitution T A upstream_gene_variant LINC-JP 16 48402088 48402088 single base substitution C G intron_variant LINC-JP 16 48402088 48402088 single base substitution C G upstream_gene_variant LINC-JP 16 48420878 48420878 single base substitution C A downstream_gene_variant LINC-JP 16 48420878 48420878 single base substitution C A intron_variant LINC-JP 16 48420878 48420878 single base substitution C A upstream_gene_variant LINC-JP 16 48433022 48433022 single base substitution T C intron_variant LINC-JP 16 48448681 48448681 single base substitution C A intron_variant LINC-JP 16 48463676 48463676 single base substitution G A intron_variant LINC-JP 16 48466881 48466881 single base substitution C T intron_variant LINC-JP 16 48486545 48486545 single base substitution T C upstream_gene_variant LIRI-JP 16 48385508 48385508 single base substitution A G downstream_gene_variant LIRI-JP 16 48385880 48385880 deletion of <=200bp A - downstream_gene_variant LIRI-JP 16 48385883 48385906 deletion of <=200bp ATGTTGATTTAGTAAACTGATAAA - downstream_gene_variant LIRI-JP 16 48385933 48385933 single base substitution A T downstream_gene_variant LIRI-JP 16 48386236 48386236 single base substitution A G downstream_gene_variant LIRI-JP 16 48386642 48386642 single base substitution T C downstream_gene_variant LIRI-JP 16 48388458 48388458 single base substitution C T downstream_gene_variant LIRI-JP 16 48389521 48389521 single base substitution A G downstream_gene_variant LIRI-JP 16 48390226 48390226 single base substitution T G downstream_gene_variant LIRI-JP 16 48392274 48392274 single base substitution T C downstream_gene_variant LIRI-JP 16 48392274 48392274 single base substitution T C intron_variant LIRI-JP 16 48392724 48392724 single base substitution T G downstream_gene_variant LIRI-JP 16 48392724 48392724 single base substitution T G intron_variant LIRI-JP 16 48393005 48393005 single base substitution T A downstream_gene_variant LIRI-JP 16 48393005 48393005 single base substitution T A intron_variant LIRI-JP 16 48393548 48393548 single base substitution A T downstream_gene_variant LIRI-JP 16 48393548 48393548 single base substitution A T intron_variant LIRI-JP 16 48396444 48396444 single base substitution A C 5_prime_UTR_premature_start_codon_gain_variant LIRI-JP 16 48396444 48396444 single base substitution A C downstream_gene_variant LIRI-JP 16 48396444 48396444 single base substitution A C intron_variant LIRI-JP 16 48396444 48396444 single base substitution A C upstream_gene_variant LIRI-JP 16 48398205 48398205 single base substitution A T downstream_gene_variant LIRI-JP 16 48398205 48398205 single base substitution A T intron_variant LIRI-JP 16 48398205 48398205 single base substitution A T upstream_gene_variant LIRI-JP 16 48398835 48398852 deletion of <=200bp TAGCAATAGTTATACATT - exon_variant LIRI-JP 16 48398835 48398852 deletion of <=200bp TAGCAATAGTTATACATT - intron_variant LIRI-JP 16 48398835 48398852 deletion of <=200bp TAGCAATAGTTATACATT - upstream_gene_variant LIRI-JP 16 48400045 48400045 single base substitution T G intron_variant LIRI-JP 16 48400045 48400045 single base substitution T G upstream_gene_variant LIRI-JP 16 48400682 48400682 single base substitution A C intron_variant LIRI-JP 16 48400682 48400682 single base substitution A C upstream_gene_variant LIRI-JP 16 48400794 48400794 single base substitution T C intron_variant LIRI-JP 16 48400794 48400794 single base substitution T C upstream_gene_variant LIRI-JP 16 48401768 48401768 single base substitution A C intron_variant LIRI-JP 16 48401768 48401768 single base substitution A C upstream_gene_variant LIRI-JP 16 48401815 48401815 single base substitution C T intron_variant LIRI-JP 16 48401815 48401815 single base substitution C T upstream_gene_variant LIRI-JP 16 48403366 48403366 single base substitution T C intron_variant LIRI-JP 16 48403366 48403366 single base substitution T C upstream_gene_variant LIRI-JP 16 48403868 48403868 single base substitution T G intron_variant LIRI-JP 16 48403868 48403868 single base substitution T G upstream_gene_variant LIRI-JP 16 48409655 48409655 single base substitution T C intron_variant LIRI-JP 16 48410985 48410985 single base substitution C A intron_variant LIRI-JP 16 48412588 48412588 single base substitution A T intron_variant LIRI-JP 16 48415207 48415207 single base substitution G A intron_variant LIRI-JP 16 48418459 48418462 deletion of <=200bp CGAC - downstream_gene_variant LIRI-JP 16 48418459 48418462 deletion of <=200bp CGAC - intron_variant LIRI-JP 16 48419745 48419745 single base substitution T G downstream_gene_variant LIRI-JP 16 48419745 48419745 single base substitution T G intron_variant LIRI-JP 16 48419745 48419745 single base substitution T G upstream_gene_variant LIRI-JP 16 48423022 48423022 single base substitution C T intron_variant LIRI-JP 16 48423022 48423022 single base substitution C T upstream_gene_variant LIRI-JP 16 48424697 48424697 single base substitution C T intron_variant LIRI-JP 16 48425556 48425556 single base substitution C T intron_variant LIRI-JP 16 48426510 48426510 single base substitution T C intron_variant LIRI-JP 16 48427550 48427550 single base substitution A G intron_variant LIRI-JP 16 48429224 48429224 single base substitution C A intron_variant LIRI-JP 16 48429224 48429224 single base substitution C A upstream_gene_variant LIRI-JP 16 48429467 48429467 single base substitution C T intron_variant LIRI-JP 16 48429467 48429467 single base substitution C T upstream_gene_variant LIRI-JP 16 48432055 48432055 single base substitution G C intron_variant LIRI-JP 16 48432055 48432055 single base substitution G C upstream_gene_variant LIRI-JP 16 48432313 48432313 single base substitution C T intron_variant LIRI-JP 16 48432313 48432313 single base substitution C T upstream_gene_variant LIRI-JP 16 48432726 48432726 single base substitution C T intron_variant LIRI-JP 16 48432726 48432726 single base substitution C T upstream_gene_variant LIRI-JP 16 48437923 48437923 single base substitution G A intron_variant LIRI-JP 16 48438226 48438226 insertion of <=200bp - T intron_variant LIRI-JP 16 48440535 48440535 single base substitution G A intron_variant LIRI-JP 16 48441396 48441396 single base substitution G A intron_variant LIRI-JP 16 48446355 48446355 single base substitution G A intron_variant LIRI-JP 16 48446690 48446690 single base substitution G A intron_variant LIRI-JP 16 48449326 48449326 single base substitution A G intron_variant LIRI-JP 16 48449657 48449657 single base substitution T C intron_variant LIRI-JP 16 48450193 48450193 single base substitution A G intron_variant LIRI-JP 16 48456795 48456795 single base substitution C T intron_variant LIRI-JP 16 48460441 48460441 single base substitution T C intron_variant LIRI-JP 16 48460909 48460909 single base substitution G A intron_variant LIRI-JP 16 48461192 48461192 single base substitution G A intron_variant LIRI-JP 16 48461990 48461990 single base substitution A G intron_variant LIRI-JP 16 48465264 48465264 single base substitution C T intron_variant LIRI-JP 16 48467678 48467678 single base substitution C T intron_variant LIRI-JP 16 48468325 48468325 single base substitution G A intron_variant LIRI-JP 16 48469279 48469279 single base substitution A G intron_variant LIRI-JP 16 48469635 48469635 single base substitution G A intron_variant LIRI-JP 16 48471196 48471196 single base substitution C A intron_variant LIRI-JP 16 48471565 48471565 single base substitution C T intron_variant LIRI-JP 16 48473918 48473918 single base substitution C T intron_variant LIRI-JP 16 48474454 48474454 single base substitution A G intron_variant LIRI-JP 16 48474957 48474957 single base substitution C A intron_variant LIRI-JP 16 48475573 48475573 single base substitution C T intron_variant LIRI-JP 16 48476564 48476564 single base substitution T C intron_variant LIRI-JP 16 48478424 48478424 single base substitution G T intron_variant LIRI-JP 16 48478425 48478425 single base substitution G T intron_variant LIRI-JP 16 48478528 48478528 single base substitution C T intron_variant LIRI-JP 16 48483092 48483092 single base substitution C T upstream_gene_variant LIRI-JP 16 48483481 48483481 single base substitution G A upstream_gene_variant LIRI-JP 16 48484211 48484211 single base substitution T C upstream_gene_variant LIRI-JP 16 48484942 48484942 single base substitution G A upstream_gene_variant LIRI-JP 16 48485814 48485814 single base substitution A C upstream_gene_variant LUSC-KR 16 48393749 48393749 single base substitution C A downstream_gene_variant LUSC-KR 16 48393749 48393749 single base substitution C A intron_variant LUSC-KR 16 48399757 48399757 single base substitution G T 5_prime_UTR_variant LUSC-KR 16 48399757 48399757 single base substitution G T intron_variant LUSC-KR 16 48399757 48399757 single base substitution G T upstream_gene_variant LUSC-KR 16 48415345 48415345 single base substitution C G intron_variant LUSC-KR 16 48418385 48418385 single base substitution G T downstream_gene_variant LUSC-KR 16 48418385 48418385 single base substitution G T intron_variant LUSC-KR 16 48427088 48427088 single base substitution G C intron_variant LUSC-KR 16 48432159 48432159 single base substitution T C intron_variant LUSC-KR 16 48432159 48432159 single base substitution T C upstream_gene_variant LUSC-KR 16 48432255 48432255 single base substitution C G intron_variant LUSC-KR 16 48432255 48432255 single base substitution C G upstream_gene_variant LUSC-KR 16 48432320 48432320 single base substitution A T intron_variant LUSC-KR 16 48432320 48432320 single base substitution A T upstream_gene_variant LUSC-KR 16 48433466 48433466 single base substitution A C intron_variant LUSC-KR 16 48435705 48435705 single base substitution C A intron_variant LUSC-KR 16 48435706 48435706 single base substitution C T intron_variant LUSC-KR 16 48449118 48449118 single base substitution C A intron_variant LUSC-KR 16 48449119 48449119 single base substitution A G intron_variant LUSC-KR 16 48451505 48451505 single base substitution A G intron_variant LUSC-KR 16 48451505 48451505 single base substitution A G upstream_gene_variant LUSC-KR 16 48451966 48451966 single base substitution C G intron_variant LUSC-KR 16 48451966 48451966 single base substitution C G upstream_gene_variant LUSC-KR 16 48452478 48452478 single base substitution G T intron_variant LUSC-KR 16 48452478 48452478 single base substitution G T upstream_gene_variant LUSC-KR 16 48458680 48458680 single base substitution G C intron_variant LUSC-KR 16 48460722 48460722 single base substitution G C intron_variant LUSC-KR 16 48460825 48460825 single base substitution C T intron_variant LUSC-KR 16 48461227 48461227 single base substitution C T intron_variant LUSC-KR 16 48465415 48465415 single base substitution G C intron_variant LUSC-KR 16 48467340 48467340 single base substitution G C intron_variant LUSC-KR 16 48467558 48467558 single base substitution G T intron_variant LUSC-KR 16 48467700 48467700 single base substitution T C intron_variant LUSC-KR 16 48467824 48467824 single base substitution C A intron_variant LUSC-KR 16 48469087 48469087 single base substitution G A intron_variant LUSC-KR 16 48471124 48471124 single base substitution C A intron_variant LUSC-KR 16 48473933 48473933 single base substitution G T intron_variant LUSC-KR 16 48474943 48474943 single base substitution G C intron_variant LUSC-KR 16 48475046 48475046 single base substitution G A intron_variant LUSC-KR 16 48478863 48478863 single base substitution G T intron_variant LUSC-KR 16 48478864 48478864 single base substitution G T intron_variant LUSC-KR 16 48479298 48479298 single base substitution C A intron_variant LUSC-KR 16 48481039 48481039 single base substitution G T intron_variant LUSC-KR 16 48482316 48482316 single base substitution T A upstream_gene_variant LUSC-KR 16 48482389 48482389 single base substitution C G upstream_gene_variant LUSC-KR 16 48482955 48482955 single base substitution T C upstream_gene_variant LUSC-US 16 48395889 48395889 single base substitution G C downstream_gene_variant LUSC-US 16 48395889 48395889 single base substitution G C exon_variant LUSC-US 16 48395889 48395889 single base substitution G C missense_variant Q151E 451C>G LUSC-US 16 48395889 48395889 single base substitution G C missense_variant Q182E 544C>G LUSC-US 16 48395889 48395889 single base substitution G C upstream_gene_variant MALY-DE 16 48390855 48390855 single base substitution A T downstream_gene_variant MALY-DE 16 48390855 48390855 single base substitution A T intron_variant MALY-DE 16 48398360 48398360 single base substitution C G downstream_gene_variant MALY-DE 16 48398360 48398360 single base substitution C G intron_variant MALY-DE 16 48398360 48398360 single base substitution C G upstream_gene_variant MALY-DE 16 48399576 48399576 single base substitution C G 5_prime_UTR_variant MALY-DE 16 48399576 48399576 single base substitution C G exon_variant MALY-DE 16 48399576 48399576 single base substitution C G intron_variant MALY-DE 16 48399576 48399576 single base substitution C G upstream_gene_variant MALY-DE 16 48400553 48400553 single base substitution T G intron_variant MALY-DE 16 48400553 48400553 single base substitution T G upstream_gene_variant MALY-DE 16 48400711 48400711 single base substitution A T intron_variant MALY-DE 16 48400711 48400711 single base substitution A T upstream_gene_variant MALY-DE 16 48401379 48401379 single base substitution A G intron_variant MALY-DE 16 48401379 48401379 single base substitution A G upstream_gene_variant MALY-DE 16 48402467 48402467 single base substitution G A intron_variant MALY-DE 16 48402467 48402467 single base substitution G A upstream_gene_variant MALY-DE 16 48405918 48405919 deletion of <=200bp AC - intron_variant MALY-DE 16 48407722 48407722 single base substitution A G intron_variant MALY-DE 16 48409426 48409426 single base substitution G A intron_variant MALY-DE 16 48410149 48410149 single base substitution T G intron_variant MALY-DE 16 48422788 48422788 insertion of <=200bp - A intron_variant MALY-DE 16 48422788 48422788 insertion of <=200bp - A upstream_gene_variant MALY-DE 16 48424893 48424893 single base substitution G A intron_variant MALY-DE 16 48437010 48437010 deletion of <=200bp T - intron_variant MALY-DE 16 48437370 48437370 single base substitution T G intron_variant MALY-DE 16 48438213 48438213 single base substitution C T intron_variant MALY-DE 16 48446638 48446638 single base substitution A G intron_variant MALY-DE 16 48448099 48448099 single base substitution A T intron_variant MALY-DE 16 48457299 48457299 single base substitution A C intron_variant MALY-DE 16 48461389 48461389 single base substitution T C intron_variant MALY-DE 16 48474499 48474499 deletion of <=200bp T - intron_variant MALY-DE 16 48475433 48475433 single base substitution T A intron_variant MALY-DE 16 48478768 48478768 single base substitution C T intron_variant MALY-DE 16 48484932 48484932 single base substitution G A upstream_gene_variant MELA-AU 16 48387208 48387209 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 16 48387548 48387548 single base substitution G C downstream_gene_variant MELA-AU 16 48391204 48391204 single base substitution G T downstream_gene_variant MELA-AU 16 48391204 48391204 single base substitution G T intron_variant MELA-AU 16 48392373 48392373 single base substitution A G downstream_gene_variant MELA-AU 16 48392373 48392373 single base substitution A G intron_variant MELA-AU 16 48398466 48398466 single base substitution A T downstream_gene_variant MELA-AU 16 48398466 48398466 single base substitution A T intron_variant MELA-AU 16 48398466 48398466 single base substitution A T upstream_gene_variant MELA-AU 16 48399483 48399483 single base substitution C T 5_prime_UTR_variant MELA-AU 16 48399483 48399483 single base substitution C T exon_variant MELA-AU 16 48399483 48399483 single base substitution C T intron_variant MELA-AU 16 48399483 48399483 single base substitution C T upstream_gene_variant MELA-AU 16 48402207 48402207 single base substitution G A intron_variant MELA-AU 16 48402207 48402207 single base substitution G A upstream_gene_variant MELA-AU 16 48402700 48402722 deletion of <=200bp AGTAAAACAAAAATTATTCTTAG - intron_variant MELA-AU 16 48402700 48402722 deletion of <=200bp AGTAAAACAAAAATTATTCTTAG - upstream_gene_variant MELA-AU 16 48402857 48402857 single base substitution A G intron_variant MELA-AU 16 48402857 48402857 single base substitution A G upstream_gene_variant MELA-AU 16 48402930 48402930 single base substitution A G intron_variant MELA-AU 16 48402930 48402930 single base substitution A G upstream_gene_variant MELA-AU 16 48404448 48404449 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 16 48404448 48404449 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 48404706 48404706 single base substitution G C intron_variant MELA-AU 16 48404706 48404706 single base substitution G C upstream_gene_variant MELA-AU 16 48405502 48405502 single base substitution A G intron_variant MELA-AU 16 48405918 48405918 insertion of <=200bp - AC intron_variant MELA-AU 16 48408105 48408105 single base substitution C T intron_variant MELA-AU 16 48408176 48408176 single base substitution G A intron_variant MELA-AU 16 48408434 48408434 single base substitution G A intron_variant MELA-AU 16 48409226 48409226 single base substitution A T intron_variant MELA-AU 16 48409476 48409476 single base substitution G A intron_variant MELA-AU 16 48410837 48410837 single base substitution G A intron_variant MELA-AU 16 48410880 48410880 single base substitution C T intron_variant MELA-AU 16 48411654 48411663 deletion of <=200bp GAAAGTATTT - intron_variant MELA-AU 16 48413631 48413631 single base substitution G A intron_variant MELA-AU 16 48414139 48414139 single base substitution G A intron_variant MELA-AU 16 48416072 48416072 single base substitution G A intron_variant MELA-AU 16 48418018 48418018 single base substitution G T downstream_gene_variant MELA-AU 16 48418018 48418018 single base substitution G T intron_variant MELA-AU 16 48420310 48420310 single base substitution C T downstream_gene_variant MELA-AU 16 48420310 48420310 single base substitution C T intron_variant MELA-AU 16 48420310 48420310 single base substitution C T upstream_gene_variant MELA-AU 16 48420804 48420804 single base substitution G A downstream_gene_variant MELA-AU 16 48420804 48420804 single base substitution G A intron_variant MELA-AU 16 48420804 48420804 single base substitution G A upstream_gene_variant MELA-AU 16 48420890 48420890 single base substitution C T downstream_gene_variant MELA-AU 16 48420890 48420890 single base substitution C T intron_variant MELA-AU 16 48420890 48420890 single base substitution C T upstream_gene_variant MELA-AU 16 48421436 48421436 single base substitution C T intron_variant MELA-AU 16 48421436 48421436 single base substitution C T upstream_gene_variant MELA-AU 16 48422307 48422308 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 48422307 48422308 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 48423132 48423132 single base substitution T A intron_variant MELA-AU 16 48423132 48423132 single base substitution T A upstream_gene_variant MELA-AU 16 48423362 48423362 single base substitution G A intron_variant MELA-AU 16 48423362 48423362 single base substitution G A upstream_gene_variant MELA-AU 16 48424089 48424089 single base substitution C T intron_variant MELA-AU 16 48424089 48424089 single base substitution C T upstream_gene_variant MELA-AU 16 48424098 48424098 single base substitution C T intron_variant MELA-AU 16 48424098 48424098 single base substitution C T upstream_gene_variant MELA-AU 16 48424212 48424212 single base substitution G A intron_variant MELA-AU 16 48424212 48424212 single base substitution G A upstream_gene_variant MELA-AU 16 48424304 48424304 single base substitution A T intron_variant MELA-AU 16 48424304 48424304 single base substitution A T upstream_gene_variant MELA-AU 16 48424370 48424370 single base substitution A T intron_variant MELA-AU 16 48424472 48424472 single base substitution C T intron_variant MELA-AU 16 48424637 48424637 single base substitution T C intron_variant MELA-AU 16 48424880 48424880 single base substitution G A intron_variant MELA-AU 16 48425171 48425171 single base substitution G A intron_variant MELA-AU 16 48425758 48425758 single base substitution G T intron_variant MELA-AU 16 48426534 48426534 single base substitution G A intron_variant MELA-AU 16 48427079 48427079 single base substitution G A intron_variant MELA-AU 16 48427178 48427178 single base substitution C T intron_variant MELA-AU 16 48427570 48427570 single base substitution T C intron_variant MELA-AU 16 48427796 48427796 single base substitution G A 5_prime_UTR_variant MELA-AU 16 48427796 48427796 single base substitution G A intron_variant MELA-AU 16 48428140 48428140 single base substitution C T intron_variant MELA-AU 16 48428140 48428140 single base substitution C T upstream_gene_variant MELA-AU 16 48428663 48428663 single base substitution G A intron_variant MELA-AU 16 48428663 48428663 single base substitution G A upstream_gene_variant MELA-AU 16 48429737 48429737 single base substitution C T intron_variant MELA-AU 16 48429737 48429737 single base substitution C T upstream_gene_variant MELA-AU 16 48429747 48429747 single base substitution G A intron_variant MELA-AU 16 48429747 48429747 single base substitution G A upstream_gene_variant MELA-AU 16 48429789 48429789 single base substitution C T intron_variant MELA-AU 16 48429789 48429789 single base substitution C T upstream_gene_variant MELA-AU 16 48429866 48429866 single base substitution C T intron_variant MELA-AU 16 48429866 48429866 single base substitution C T upstream_gene_variant MELA-AU 16 48429871 48429871 single base substitution C A intron_variant MELA-AU 16 48429871 48429871 single base substitution C A upstream_gene_variant MELA-AU 16 48430008 48430008 single base substitution C T intron_variant MELA-AU 16 48430008 48430008 single base substitution C T upstream_gene_variant MELA-AU 16 48430039 48430039 single base substitution C T intron_variant MELA-AU 16 48430039 48430039 single base substitution C T upstream_gene_variant MELA-AU 16 48430128 48430129 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 48430128 48430129 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 48430246 48430246 single base substitution G A intron_variant MELA-AU 16 48430246 48430246 single base substitution G A upstream_gene_variant MELA-AU 16 48430397 48430397 single base substitution C T intron_variant MELA-AU 16 48430397 48430397 single base substitution C T upstream_gene_variant MELA-AU 16 48430450 48430450 single base substitution G A intron_variant MELA-AU 16 48430450 48430450 single base substitution G A upstream_gene_variant MELA-AU 16 48430906 48430906 single base substitution G A intron_variant MELA-AU 16 48430906 48430906 single base substitution G A upstream_gene_variant MELA-AU 16 48431159 48431159 single base substitution T C intron_variant MELA-AU 16 48431159 48431159 single base substitution T C upstream_gene_variant MELA-AU 16 48431409 48431410 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 48431409 48431410 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 16 48431420 48431420 single base substitution G A intron_variant MELA-AU 16 48431420 48431420 single base substitution G A upstream_gene_variant MELA-AU 16 48431697 48431697 single base substitution G A intron_variant MELA-AU 16 48431697 48431697 single base substitution G A upstream_gene_variant MELA-AU 16 48431846 48431846 single base substitution G A intron_variant MELA-AU 16 48431846 48431846 single base substitution G A upstream_gene_variant MELA-AU 16 48431876 48431876 single base substitution G A intron_variant MELA-AU 16 48431876 48431876 single base substitution G A upstream_gene_variant MELA-AU 16 48431938 48431938 single base substitution G A intron_variant MELA-AU 16 48431938 48431938 single base substitution G A upstream_gene_variant MELA-AU 16 48432022 48432022 single base substitution G A intron_variant MELA-AU 16 48432022 48432022 single base substitution G A upstream_gene_variant MELA-AU 16 48432226 48432226 single base substitution C T intron_variant MELA-AU 16 48432226 48432226 single base substitution C T upstream_gene_variant MELA-AU 16 48432516 48432516 single base substitution G A intron_variant MELA-AU 16 48432516 48432516 single base substitution G A upstream_gene_variant MELA-AU 16 48432549 48432549 single base substitution C T intron_variant MELA-AU 16 48432549 48432549 single base substitution C T upstream_gene_variant MELA-AU 16 48432800 48432800 single base substitution G A intron_variant MELA-AU 16 48432800 48432800 single base substitution G A upstream_gene_variant MELA-AU 16 48433073 48433073 single base substitution C T intron_variant MELA-AU 16 48433127 48433127 single base substitution G A intron_variant MELA-AU 16 48433244 48433244 single base substitution G A intron_variant MELA-AU 16 48433443 48433443 single base substitution G A intron_variant MELA-AU 16 48433444 48433444 single base substitution G A intron_variant MELA-AU 16 48433641 48433641 single base substitution C T intron_variant MELA-AU 16 48433754 48433754 single base substitution G A intron_variant MELA-AU 16 48433837 48433837 single base substitution G A intron_variant MELA-AU 16 48434803 48434803 single base substitution C T intron_variant MELA-AU 16 48434889 48434890 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 16 48434931 48434931 single base substitution C T intron_variant MELA-AU 16 48435706 48435706 single base substitution C T intron_variant MELA-AU 16 48435980 48435980 single base substitution G A intron_variant MELA-AU 16 48435993 48435993 single base substitution G A intron_variant MELA-AU 16 48436160 48436160 single base substitution C T intron_variant MELA-AU 16 48436216 48436216 single base substitution T G intron_variant MELA-AU 16 48436473 48436473 single base substitution C T intron_variant MELA-AU 16 48436697 48436697 single base substitution C T intron_variant MELA-AU 16 48436850 48436850 single base substitution C T intron_variant MELA-AU 16 48436903 48436903 single base substitution C T intron_variant MELA-AU 16 48437318 48437318 single base substitution G A intron_variant MELA-AU 16 48437440 48437440 single base substitution C T intron_variant MELA-AU 16 48437578 48437578 single base substitution C T splice_region_variant MELA-AU 16 48438355 48438355 single base substitution C T intron_variant MELA-AU 16 48438883 48438883 single base substitution G A intron_variant MELA-AU 16 48439062 48439062 single base substitution C T intron_variant MELA-AU 16 48439572 48439572 single base substitution G A intron_variant MELA-AU 16 48439688 48439688 single base substitution T G intron_variant MELA-AU 16 48439798 48439798 single base substitution G A intron_variant MELA-AU 16 48439894 48439894 single base substitution C T intron_variant MELA-AU 16 48439934 48439934 single base substitution G A intron_variant MELA-AU 16 48440341 48440341 single base substitution G A intron_variant MELA-AU 16 48440538 48440538 single base substitution C T intron_variant MELA-AU 16 48440614 48440614 single base substitution G A intron_variant MELA-AU 16 48440791 48440791 single base substitution C T intron_variant MELA-AU 16 48440803 48440803 single base substitution A G intron_variant MELA-AU 16 48441162 48441162 single base substitution G A intron_variant MELA-AU 16 48442294 48442294 single base substitution G A intron_variant MELA-AU 16 48442316 48442316 single base substitution G A intron_variant MELA-AU 16 48442629 48442629 single base substitution G A intron_variant MELA-AU 16 48442837 48442837 single base substitution G A intron_variant MELA-AU 16 48442922 48442922 single base substitution C T intron_variant MELA-AU 16 48443075 48443075 single base substitution C T intron_variant MELA-AU 16 48443576 48443576 single base substitution G A intron_variant MELA-AU 16 48443614 48443614 single base substitution C T intron_variant MELA-AU 16 48443857 48443857 single base substitution C T intron_variant MELA-AU 16 48444309 48444309 single base substitution C T intron_variant MELA-AU 16 48444344 48444344 single base substitution G A intron_variant MELA-AU 16 48444447 48444447 single base substitution C T intron_variant MELA-AU 16 48444743 48444743 single base substitution G A intron_variant MELA-AU 16 48444798 48444798 single base substitution G A intron_variant MELA-AU 16 48444911 48444911 single base substitution G C intron_variant MELA-AU 16 48445226 48445226 single base substitution G A intron_variant MELA-AU 16 48445747 48445747 single base substitution G A intron_variant MELA-AU 16 48445835 48445835 single base substitution T C intron_variant MELA-AU 16 48445862 48445862 single base substitution G A intron_variant MELA-AU 16 48446104 48446104 single base substitution C A intron_variant MELA-AU 16 48446388 48446388 single base substitution G A intron_variant MELA-AU 16 48447168 48447168 single base substitution A T intron_variant MELA-AU 16 48447294 48447294 single base substitution C G intron_variant MELA-AU 16 48447524 48447524 single base substitution C T intron_variant MELA-AU 16 48447706 48447706 single base substitution G A intron_variant MELA-AU 16 48448127 48448127 single base substitution C T intron_variant MELA-AU 16 48448591 48448591 single base substitution G A intron_variant MELA-AU 16 48448964 48448964 single base substitution G A intron_variant MELA-AU 16 48449014 48449014 single base substitution C T intron_variant MELA-AU 16 48449067 48449067 single base substitution C T intron_variant MELA-AU 16 48449643 48449643 single base substitution C T intron_variant MELA-AU 16 48449779 48449779 single base substitution A C intron_variant MELA-AU 16 48449900 48449900 single base substitution C T intron_variant MELA-AU 16 48449968 48449968 single base substitution G A intron_variant MELA-AU 16 48450729 48450729 single base substitution C T intron_variant MELA-AU 16 48450729 48450729 single base substitution C T splice_region_variant MELA-AU 16 48450982 48450982 single base substitution G A exon_variant MELA-AU 16 48450982 48450982 single base substitution G A intron_variant MELA-AU 16 48451150 48451150 single base substitution C T exon_variant MELA-AU 16 48451150 48451150 single base substitution C T intron_variant MELA-AU 16 48451403 48451403 single base substitution G A intron_variant MELA-AU 16 48451403 48451403 single base substitution G A upstream_gene_variant MELA-AU 16 48451598 48451598 single base substitution G A intron_variant MELA-AU 16 48451598 48451598 single base substitution G A upstream_gene_variant MELA-AU 16 48451795 48451795 single base substitution G A intron_variant MELA-AU 16 48451795 48451795 single base substitution G A upstream_gene_variant MELA-AU 16 48452085 48452085 single base substitution C T intron_variant MELA-AU 16 48452085 48452085 single base substitution C T upstream_gene_variant MELA-AU 16 48452106 48452106 single base substitution C T intron_variant MELA-AU 16 48452106 48452106 single base substitution C T upstream_gene_variant MELA-AU 16 48452327 48452327 single base substitution C T intron_variant MELA-AU 16 48452327 48452327 single base substitution C T upstream_gene_variant MELA-AU 16 48452691 48452691 single base substitution G A intron_variant MELA-AU 16 48452691 48452691 single base substitution G A upstream_gene_variant MELA-AU 16 48452763 48452763 single base substitution A T intron_variant MELA-AU 16 48452763 48452763 single base substitution A T upstream_gene_variant MELA-AU 16 48452863 48452863 single base substitution C T intron_variant MELA-AU 16 48452863 48452863 single base substitution C T upstream_gene_variant MELA-AU 16 48453286 48453286 single base substitution C T intron_variant MELA-AU 16 48453286 48453286 single base substitution C T upstream_gene_variant MELA-AU 16 48453696 48453696 single base substitution C T intron_variant MELA-AU 16 48453696 48453696 single base substitution C T upstream_gene_variant MELA-AU 16 48454147 48454147 single base substitution C T intron_variant MELA-AU 16 48454147 48454147 single base substitution C T upstream_gene_variant MELA-AU 16 48455033 48455033 single base substitution G A intron_variant MELA-AU 16 48455033 48455033 single base substitution G A upstream_gene_variant MELA-AU 16 48455828 48455828 single base substitution G A intron_variant MELA-AU 16 48455828 48455828 single base substitution G A upstream_gene_variant MELA-AU 16 48456042 48456042 single base substitution G A intron_variant MELA-AU 16 48456042 48456042 single base substitution G A upstream_gene_variant MELA-AU 16 48456316 48456316 single base substitution C A intron_variant MELA-AU 16 48456939 48456939 single base substitution C T intron_variant MELA-AU 16 48457783 48457783 single base substitution C T intron_variant MELA-AU 16 48457880 48457880 single base substitution C T intron_variant MELA-AU 16 48458410 48458410 single base substitution A G intron_variant MELA-AU 16 48458427 48458427 single base substitution C T intron_variant MELA-AU 16 48458464 48458464 single base substitution C T intron_variant MELA-AU 16 48458796 48458796 single base substitution G A intron_variant MELA-AU 16 48459064 48459064 single base substitution C T intron_variant MELA-AU 16 48459182 48459182 single base substitution G A intron_variant MELA-AU 16 48459407 48459407 single base substitution A T intron_variant MELA-AU 16 48459885 48459885 single base substitution G T intron_variant MELA-AU 16 48460137 48460137 single base substitution C T intron_variant MELA-AU 16 48460400 48460400 single base substitution C T intron_variant MELA-AU 16 48460774 48460774 single base substitution G A intron_variant MELA-AU 16 48460996 48460996 single base substitution G A intron_variant MELA-AU 16 48461216 48461216 single base substitution G A intron_variant MELA-AU 16 48461271 48461271 single base substitution C T intron_variant MELA-AU 16 48461371 48461371 single base substitution C T intron_variant MELA-AU 16 48461549 48461549 single base substitution C T intron_variant MELA-AU 16 48461578 48461578 single base substitution C T intron_variant MELA-AU 16 48461747 48461747 single base substitution C T intron_variant MELA-AU 16 48461911 48461911 single base substitution C T intron_variant MELA-AU 16 48461924 48461924 single base substitution C T intron_variant MELA-AU 16 48461938 48461938 single base substitution C T intron_variant MELA-AU 16 48461950 48461950 single base substitution C T intron_variant MELA-AU 16 48462696 48462696 single base substitution G A intron_variant MELA-AU 16 48462735 48462735 single base substitution G A intron_variant MELA-AU 16 48462743 48462743 single base substitution G A intron_variant MELA-AU 16 48463098 48463098 single base substitution G A intron_variant MELA-AU 16 48463367 48463367 single base substitution G A intron_variant MELA-AU 16 48463375 48463375 single base substitution G A intron_variant MELA-AU 16 48463396 48463396 single base substitution T G intron_variant MELA-AU 16 48463430 48463430 single base substitution T A intron_variant MELA-AU 16 48463677 48463677 single base substitution G A intron_variant MELA-AU 16 48464257 48464257 single base substitution C T intron_variant MELA-AU 16 48464289 48464289 single base substitution G A intron_variant MELA-AU 16 48464576 48464576 single base substitution C T intron_variant MELA-AU 16 48464809 48464809 single base substitution G A intron_variant MELA-AU 16 48464810 48464810 single base substitution G T intron_variant MELA-AU 16 48464871 48464871 single base substitution A T intron_variant MELA-AU 16 48465266 48465266 single base substitution G A intron_variant MELA-AU 16 48465357 48465357 single base substitution G A intron_variant MELA-AU 16 48465511 48465511 insertion of <=200bp - T intron_variant MELA-AU 16 48465601 48465601 single base substitution C T intron_variant MELA-AU 16 48465663 48465663 single base substitution G A intron_variant MELA-AU 16 48467091 48467091 single base substitution G A intron_variant MELA-AU 16 48467451 48467451 single base substitution G A intron_variant MELA-AU 16 48467475 48467475 single base substitution T C intron_variant MELA-AU 16 48467513 48467513 single base substitution G A intron_variant MELA-AU 16 48467612 48467612 single base substitution T A intron_variant MELA-AU 16 48467634 48467634 single base substitution T C intron_variant MELA-AU 16 48467730 48467730 single base substitution G A intron_variant MELA-AU 16 48468494 48468494 single base substitution G A intron_variant MELA-AU 16 48468547 48468547 single base substitution C T intron_variant MELA-AU 16 48468580 48468580 single base substitution C T intron_variant MELA-AU 16 48468680 48468680 single base substitution C T intron_variant MELA-AU 16 48468875 48468875 single base substitution C T intron_variant MELA-AU 16 48469360 48469360 single base substitution C T intron_variant MELA-AU 16 48469418 48469418 single base substitution G A intron_variant MELA-AU 16 48469434 48469434 single base substitution G A intron_variant MELA-AU 16 48469623 48469623 single base substitution C T intron_variant MELA-AU 16 48469667 48469667 single base substitution G A intron_variant MELA-AU 16 48470202 48470202 single base substitution G A intron_variant MELA-AU 16 48470436 48470436 single base substitution C T intron_variant MELA-AU 16 48470489 48470489 single base substitution C T intron_variant MELA-AU 16 48470601 48470601 single base substitution T C intron_variant MELA-AU 16 48470882 48470882 single base substitution A G intron_variant MELA-AU 16 48471122 48471122 single base substitution G A intron_variant MELA-AU 16 48471204 48471204 single base substitution G A intron_variant MELA-AU 16 48471336 48471336 single base substitution G A intron_variant MELA-AU 16 48472009 48472009 single base substitution C T intron_variant MELA-AU 16 48472038 48472038 single base substitution C T intron_variant MELA-AU 16 48472082 48472082 single base substitution C T intron_variant MELA-AU 16 48472364 48472364 single base substitution G A intron_variant MELA-AU 16 48472429 48472429 single base substitution C T intron_variant MELA-AU 16 48472503 48472503 single base substitution C T intron_variant MELA-AU 16 48472614 48472614 single base substitution C T intron_variant MELA-AU 16 48472703 48472703 single base substitution C T intron_variant MELA-AU 16 48473290 48473290 single base substitution C T intron_variant MELA-AU 16 48473588 48473588 single base substitution C T intron_variant MELA-AU 16 48473590 48473590 single base substitution G A intron_variant MELA-AU 16 48473754 48473754 single base substitution T A intron_variant MELA-AU 16 48473852 48473852 single base substitution C G intron_variant MELA-AU 16 48473965 48473965 single base substitution T C intron_variant MELA-AU 16 48474292 48474292 single base substitution G A intron_variant MELA-AU 16 48474508 48474508 single base substitution G A intron_variant MELA-AU 16 48475192 48475192 single base substitution G A intron_variant MELA-AU 16 48475292 48475292 single base substitution G A intron_variant MELA-AU 16 48475294 48475294 single base substitution G A intron_variant MELA-AU 16 48475303 48475303 single base substitution A G intron_variant MELA-AU 16 48475627 48475627 single base substitution G A intron_variant MELA-AU 16 48475942 48475942 single base substitution A T intron_variant MELA-AU 16 48476195 48476195 single base substitution G A intron_variant MELA-AU 16 48476681 48476681 single base substitution C T intron_variant MELA-AU 16 48477722 48477722 single base substitution C T intron_variant MELA-AU 16 48478236 48478236 single base substitution G A intron_variant MELA-AU 16 48478795 48478795 single base substitution G A intron_variant MELA-AU 16 48479038 48479038 single base substitution G A intron_variant MELA-AU 16 48479393 48479393 single base substitution C T intron_variant MELA-AU 16 48479621 48479621 single base substitution C T intron_variant MELA-AU 16 48479626 48479626 single base substitution C T intron_variant MELA-AU 16 48479655 48479655 single base substitution G A intron_variant MELA-AU 16 48480527 48480527 single base substitution C T intron_variant MELA-AU 16 48480541 48480541 single base substitution C T intron_variant MELA-AU 16 48481130 48481130 single base substitution C T intron_variant MELA-AU 16 48481181 48481181 single base substitution A G intron_variant MELA-AU 16 48481709 48481709 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 16 48481958 48481958 single base substitution G A 5_prime_UTR_variant MELA-AU 16 48481969 48481969 single base substitution C T 5_prime_UTR_variant MELA-AU 16 48482109 48482109 single base substitution G A 5_prime_UTR_variant MELA-AU 16 48482333 48482333 single base substitution C T upstream_gene_variant MELA-AU 16 48482661 48482661 single base substitution G A upstream_gene_variant MELA-AU 16 48482860 48482860 single base substitution A G upstream_gene_variant MELA-AU 16 48483058 48483058 single base substitution C T upstream_gene_variant MELA-AU 16 48483110 48483110 single base substitution C T upstream_gene_variant MELA-AU 16 48483151 48483152 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 16 48483240 48483240 single base substitution C T upstream_gene_variant MELA-AU 16 48483417 48483417 single base substitution A C upstream_gene_variant MELA-AU 16 48483980 48483980 single base substitution T C upstream_gene_variant MELA-AU 16 48484002 48484002 single base substitution A C upstream_gene_variant MELA-AU 16 48484020 48484020 single base substitution T A upstream_gene_variant MELA-AU 16 48484080 48484080 single base substitution C T upstream_gene_variant MELA-AU 16 48484511 48484511 single base substitution G A upstream_gene_variant MELA-AU 16 48484641 48484641 single base substitution G A upstream_gene_variant MELA-AU 16 48484912 48484912 single base substitution G A upstream_gene_variant MELA-AU 16 48485058 48485058 single base substitution C T upstream_gene_variant MELA-AU 16 48485124 48485124 single base substitution G A upstream_gene_variant MELA-AU 16 48485405 48485405 single base substitution C T upstream_gene_variant MELA-AU 16 48485614 48485614 single base substitution G A upstream_gene_variant MELA-AU 16 48485737 48485737 single base substitution C T upstream_gene_variant MELA-AU 16 48486516 48486516 single base substitution C T upstream_gene_variant MELA-AU 16 48486531 48486531 single base substitution C T upstream_gene_variant MELA-AU 16 48486736 48486736 single base substitution C T upstream_gene_variant MELA-AU 16 48486878 48486878 single base substitution C T upstream_gene_variant MELA-AU 16 48487265 48487265 single base substitution C T upstream_gene_variant MELA-AU 16 48487305 48487306 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant ORCA-IN 16 48392688 48392688 single base substitution C A downstream_gene_variant ORCA-IN 16 48392688 48392688 single base substitution C A intron_variant ORCA-IN 16 48396541 48396541 single base substitution G A 5_prime_UTR_variant ORCA-IN 16 48396541 48396541 single base substitution G A downstream_gene_variant ORCA-IN 16 48396541 48396541 single base substitution G A intron_variant ORCA-IN 16 48396541 48396541 single base substitution G A upstream_gene_variant ORCA-IN 16 48435055 48435055 single base substitution C G intron_variant ORCA-IN 16 48457159 48457159 single base substitution G A intron_variant OV-AU 16 48394108 48394108 single base substitution G T downstream_gene_variant OV-AU 16 48394108 48394108 single base substitution G T intron_variant OV-AU 16 48396766 48396766 single base substitution G C 5_prime_UTR_variant OV-AU 16 48396766 48396766 single base substitution G C downstream_gene_variant OV-AU 16 48396766 48396766 single base substitution G C intron_variant OV-AU 16 48396766 48396766 single base substitution G C upstream_gene_variant OV-AU 16 48405556 48405556 single base substitution A G intron_variant OV-AU 16 48417599 48417599 single base substitution C T downstream_gene_variant OV-AU 16 48417599 48417599 single base substitution C T intron_variant OV-AU 16 48419414 48419414 single base substitution G T downstream_gene_variant OV-AU 16 48419414 48419414 single base substitution G T intron_variant OV-AU 16 48419414 48419414 single base substitution G T upstream_gene_variant OV-AU 16 48426704 48426704 single base substitution T C 5_prime_UTR_variant OV-AU 16 48426704 48426704 single base substitution T C intron_variant OV-AU 16 48430778 48430778 single base substitution G A intron_variant OV-AU 16 48430778 48430778 single base substitution G A upstream_gene_variant OV-AU 16 48431531 48431531 single base substitution G T intron_variant OV-AU 16 48431531 48431531 single base substitution G T upstream_gene_variant OV-AU 16 48443851 48443851 single base substitution A T intron_variant OV-AU 16 48467652 48467652 single base substitution G T intron_variant OV-AU 16 48468961 48468961 single base substitution C T intron_variant OV-AU 16 48475745 48475745 single base substitution G A intron_variant OV-AU 16 48476465 48476465 single base substitution G A intron_variant OV-AU 16 48477744 48477744 single base substitution G A intron_variant OV-AU 16 48485441 48485441 single base substitution A C upstream_gene_variant OV-AU 16 48486795 48486795 single base substitution C A upstream_gene_variant PACA-AU 16 48388822 48388822 single base substitution C T downstream_gene_variant PACA-AU 16 48389638 48389638 single base substitution A G downstream_gene_variant PACA-AU 16 48396555 48396555 single base substitution T C 5_prime_UTR_variant PACA-AU 16 48396555 48396555 single base substitution T C downstream_gene_variant PACA-AU 16 48396555 48396555 single base substitution T C intron_variant PACA-AU 16 48396555 48396555 single base substitution T C upstream_gene_variant PACA-AU 16 48396726 48396726 single base substitution C T 5_prime_UTR_variant PACA-AU 16 48396726 48396726 single base substitution C T downstream_gene_variant PACA-AU 16 48396726 48396726 single base substitution C T intron_variant PACA-AU 16 48396726 48396726 single base substitution C T upstream_gene_variant PACA-AU 16 48400388 48400388 single base substitution C A intron_variant PACA-AU 16 48400388 48400388 single base substitution C A upstream_gene_variant PACA-AU 16 48404400 48404400 single base substitution G T intron_variant PACA-AU 16 48404400 48404400 single base substitution G T upstream_gene_variant PACA-AU 16 48404488 48404488 single base substitution G A intron_variant PACA-AU 16 48404488 48404488 single base substitution G A upstream_gene_variant PACA-AU 16 48405933 48405933 single base substitution C G intron_variant PACA-AU 16 48406547 48406547 single base substitution T G intron_variant PACA-AU 16 48407617 48407617 single base substitution T C intron_variant PACA-AU 16 48410600 48410600 single base substitution A C intron_variant PACA-AU 16 48412017 48412017 single base substitution C T intron_variant PACA-AU 16 48415880 48415880 single base substitution C T intron_variant PACA-AU 16 48420486 48420486 single base substitution A G downstream_gene_variant PACA-AU 16 48420486 48420486 single base substitution A G intron_variant PACA-AU 16 48420486 48420486 single base substitution A G upstream_gene_variant PACA-AU 16 48425513 48425513 single base substitution T C intron_variant PACA-AU 16 48431430 48431430 single base substitution G A intron_variant PACA-AU 16 48431430 48431430 single base substitution G A upstream_gene_variant PACA-AU 16 48434407 48434407 single base substitution G A intron_variant PACA-AU 16 48434440 48434440 single base substitution G T intron_variant PACA-AU 16 48435548 48435548 single base substitution G A intron_variant PACA-AU 16 48437260 48437260 single base substitution G T intron_variant PACA-AU 16 48439622 48439622 single base substitution C G intron_variant PACA-AU 16 48445220 48445220 single base substitution C T intron_variant PACA-AU 16 48449147 48449150 deletion of <=200bp CCGT - intron_variant PACA-AU 16 48457373 48457373 single base substitution C T intron_variant PACA-AU 16 48458531 48458531 single base substitution A G intron_variant PACA-AU 16 48466608 48466608 deletion of <=200bp C - intron_variant PACA-AU 16 48468332 48468332 single base substitution C T intron_variant PACA-AU 16 48478134 48478134 single base substitution C T intron_variant PACA-AU 16 48478952 48478952 single base substitution C T intron_variant PACA-AU 16 48483977 48483977 single base substitution T C upstream_gene_variant PACA-AU 16 48483980 48483980 single base substitution T C upstream_gene_variant PACA-AU 16 48484529 48484529 single base substitution C T upstream_gene_variant PACA-CA 16 48388237 48388237 single base substitution G T downstream_gene_variant PACA-CA 16 48389425 48389425 single base substitution A G downstream_gene_variant PACA-CA 16 48390508 48390508 insertion of <=200bp - T downstream_gene_variant PACA-CA 16 48390508 48390508 insertion of <=200bp - T intron_variant PACA-CA 16 48391789 48391789 single base substitution C T downstream_gene_variant PACA-CA 16 48391789 48391789 single base substitution C T intron_variant PACA-CA 16 48396035 48396035 single base substitution G A downstream_gene_variant PACA-CA 16 48396035 48396035 single base substitution G A exon_variant PACA-CA 16 48396035 48396035 single base substitution G A missense_variant S102F 305C>T PACA-CA 16 48396035 48396035 single base substitution G A missense_variant S133F 398C>T PACA-CA 16 48396035 48396035 single base substitution G A upstream_gene_variant PACA-CA 16 48397614 48397614 single base substitution A G 5_prime_UTR_variant PACA-CA 16 48397614 48397614 single base substitution A G downstream_gene_variant PACA-CA 16 48397614 48397614 single base substitution A G intron_variant PACA-CA 16 48397614 48397614 single base substitution A G upstream_gene_variant PACA-CA 16 48400305 48400305 single base substitution A G intron_variant PACA-CA 16 48400305 48400305 single base substitution A G upstream_gene_variant PACA-CA 16 48405917 48405917 insertion of <=200bp - AC intron_variant PACA-CA 16 48405933 48405933 insertion of <=200bp - AG intron_variant PACA-CA 16 48405933 48405933 single base substitution C G intron_variant PACA-CA 16 48411395 48411395 single base substitution G A intron_variant PACA-CA 16 48415880 48415880 single base substitution C T intron_variant PACA-CA 16 48423620 48423620 single base substitution G A intron_variant PACA-CA 16 48423620 48423620 single base substitution G A upstream_gene_variant PACA-CA 16 48424116 48424116 single base substitution G A intron_variant PACA-CA 16 48424116 48424116 single base substitution G A upstream_gene_variant PACA-CA 16 48427382 48427382 single base substitution A G intron_variant PACA-CA 16 48433309 48433309 single base substitution T A intron_variant PACA-CA 16 48436116 48436116 single base substitution C T intron_variant PACA-CA 16 48441652 48441652 deletion of <=200bp A - intron_variant PACA-CA 16 48444666 48444666 single base substitution T G intron_variant PACA-CA 16 48448219 48448219 single base substitution T A intron_variant PACA-CA 16 48451041 48451041 single base substitution C T exon_variant PACA-CA 16 48451041 48451041 single base substitution C T intron_variant PACA-CA 16 48451111 48451111 single base substitution C G exon_variant PACA-CA 16 48451111 48451111 single base substitution C G intron_variant PACA-CA 16 48452251 48452251 single base substitution T C intron_variant PACA-CA 16 48452251 48452251 single base substitution T C upstream_gene_variant PACA-CA 16 48458613 48458613 single base substitution C T intron_variant PACA-CA 16 48458755 48458755 single base substitution A T intron_variant PACA-CA 16 48459229 48459229 single base substitution C T intron_variant PACA-CA 16 48460943 48460943 insertion of <=200bp - A intron_variant PACA-CA 16 48468721 48468721 single base substitution A G intron_variant PACA-CA 16 48470526 48470526 single base substitution G A intron_variant PACA-CA 16 48473926 48473926 single base substitution G A intron_variant PACA-CA 16 48474680 48474680 single base substitution G A intron_variant PACA-CA 16 48479552 48479552 single base substitution C T intron_variant PACA-CA 16 48480318 48480318 deletion of <=200bp A - intron_variant PACA-CA 16 48482021 48482021 single base substitution C T 5_prime_UTR_variant PACA-CA 16 48483980 48483980 single base substitution T C upstream_gene_variant PACA-CA 16 48485640 48485640 single base substitution T G upstream_gene_variant PACA-CA 16 48487192 48487192 single base substitution C G upstream_gene_variant PAEN-AU 16 48386821 48386821 single base substitution C A downstream_gene_variant PAEN-AU 16 48401358 48401358 single base substitution G C intron_variant PAEN-AU 16 48401358 48401358 single base substitution G C upstream_gene_variant PAEN-AU 16 48406380 48406380 single base substitution C A intron_variant PAEN-AU 16 48438670 48438670 single base substitution G A intron_variant PAEN-AU 16 48483977 48483977 single base substitution T C upstream_gene_variant PAEN-AU 16 48483980 48483980 single base substitution T C upstream_gene_variant PAEN-IT 16 48436276 48436276 single base substitution T C intron_variant PBCA-DE 16 48402758 48402758 single base substitution G A intron_variant PBCA-DE 16 48402758 48402758 single base substitution G A upstream_gene_variant PBCA-DE 16 48403487 48403487 insertion of <=200bp - A intron_variant PBCA-DE 16 48403487 48403487 insertion of <=200bp - A upstream_gene_variant PBCA-DE 16 48407490 48407490 single base substitution T G intron_variant PBCA-DE 16 48410192 48410192 single base substitution T G intron_variant PBCA-DE 16 48414268 48414268 single base substitution C A intron_variant PBCA-DE 16 48432453 48432453 single base substitution T A intron_variant PBCA-DE 16 48432453 48432453 single base substitution T A upstream_gene_variant PBCA-DE 16 48433901 48433901 single base substitution C T intron_variant PBCA-DE 16 48437428 48437428 single base substitution T G intron_variant PBCA-DE 16 48450569 48450569 single base substitution C T intron_variant PBCA-DE 16 48455020 48455020 single base substitution C T intron_variant PBCA-DE 16 48455020 48455020 single base substitution C T upstream_gene_variant PBCA-DE 16 48455805 48455805 deletion of <=200bp A - intron_variant PBCA-DE 16 48455805 48455805 deletion of <=200bp A - upstream_gene_variant PBCA-DE 16 48468006 48468006 single base substitution G A intron_variant PBCA-DE 16 48470330 48470331 deletion of <=200bp TC - intron_variant PBCA-DE 16 48483005 48483005 single base substitution G A upstream_gene_variant PRAD-CA 16 48400979 48400979 single base substitution G A intron_variant PRAD-CA 16 48400979 48400979 single base substitution G A upstream_gene_variant PRAD-CA 16 48417000 48417000 single base substitution A C downstream_gene_variant PRAD-CA 16 48417000 48417000 single base substitution A C intron_variant PRAD-CA 16 48449594 48449594 single base substitution C T intron_variant PRAD-CA 16 48453659 48453659 single base substitution T C intron_variant PRAD-CA 16 48453659 48453659 single base substitution T C upstream_gene_variant PRAD-CA 16 48485799 48485799 single base substitution C T upstream_gene_variant PRAD-UK 16 48385388 48385388 deletion of <=200bp T - downstream_gene_variant PRAD-UK 16 48395390 48395390 single base substitution T G 3_prime_UTR_variant PRAD-UK 16 48395390 48395390 single base substitution T G downstream_gene_variant PRAD-UK 16 48395390 48395390 single base substitution T G exon_variant PRAD-UK 16 48395390 48395390 single base substitution T G intron_variant PRAD-UK 16 48409895 48409895 single base substitution C T intron_variant PRAD-UK 16 48412984 48412984 single base substitution T C intron_variant PRAD-UK 16 48425045 48425045 single base substitution T C intron_variant PRAD-UK 16 48434467 48434467 insertion of <=200bp - T intron_variant PRAD-UK 16 48434612 48434612 single base substitution C A intron_variant PRAD-UK 16 48435336 48435336 single base substitution G T intron_variant PRAD-UK 16 48435672 48435672 single base substitution G T intron_variant PRAD-UK 16 48440170 48440170 insertion of <=200bp - T intron_variant PRAD-UK 16 48449945 48449945 single base substitution G A intron_variant PRAD-UK 16 48453488 48453488 single base substitution G A intron_variant PRAD-UK 16 48453488 48453488 single base substitution G A upstream_gene_variant PRAD-UK 16 48458365 48458365 single base substitution G A intron_variant PRAD-UK 16 48458422 48458422 single base substitution T C intron_variant PRAD-UK 16 48459767 48459767 single base substitution C A intron_variant PRAD-UK 16 48461168 48461168 single base substitution G A intron_variant PRAD-UK 16 48477930 48477930 single base substitution C A intron_variant PRAD-UK 16 48481130 48481130 single base substitution C A intron_variant RECA-EU 16 48394052 48394052 single base substitution C T downstream_gene_variant RECA-EU 16 48394052 48394052 single base substitution C T intron_variant RECA-EU 16 48400124 48400124 single base substitution T A intron_variant RECA-EU 16 48400124 48400124 single base substitution T A upstream_gene_variant RECA-EU 16 48401774 48401774 single base substitution A G intron_variant RECA-EU 16 48401774 48401774 single base substitution A G upstream_gene_variant RECA-EU 16 48410971 48410971 single base substitution A G intron_variant RECA-EU 16 48422286 48422286 single base substitution G T intron_variant RECA-EU 16 48422286 48422286 single base substitution G T upstream_gene_variant RECA-EU 16 48425832 48425832 single base substitution T C intron_variant RECA-EU 16 48428098 48428098 single base substitution T C intron_variant RECA-EU 16 48428098 48428098 single base substitution T C upstream_gene_variant RECA-EU 16 48430174 48430174 single base substitution C T intron_variant RECA-EU 16 48430174 48430174 single base substitution C T upstream_gene_variant RECA-EU 16 48431236 48431236 single base substitution C T intron_variant RECA-EU 16 48431236 48431236 single base substitution C T upstream_gene_variant RECA-EU 16 48434496 48434496 single base substitution G T intron_variant RECA-EU 16 48447718 48447718 single base substitution T C intron_variant RECA-EU 16 48448676 48448676 single base substitution A C intron_variant RECA-EU 16 48465040 48465040 single base substitution A C intron_variant RECA-EU 16 48468022 48468022 single base substitution C A intron_variant RECA-EU 16 48470528 48470528 single base substitution A T intron_variant RECA-EU 16 48472358 48472358 single base substitution A G intron_variant RECA-EU 16 48479432 48479432 single base substitution C A intron_variant RECA-EU 16 48481883 48481883 single base substitution T C 5_prime_UTR_variant SKCA-BR 16 48385957 48385957 single base substitution T C downstream_gene_variant SKCA-BR 16 48387262 48387262 single base substitution C A downstream_gene_variant SKCA-BR 16 48387744 48387744 single base substitution C T downstream_gene_variant SKCA-BR 16 48395595 48395595 single base substitution T G downstream_gene_variant SKCA-BR 16 48395595 48395595 single base substitution T G exon_variant SKCA-BR 16 48395595 48395595 single base substitution T G missense_variant T249P 745A>C SKCA-BR 16 48395595 48395595 single base substitution T G missense_variant T280P 838A>C SKCA-BR 16 48395868 48395868 single base substitution G C downstream_gene_variant SKCA-BR 16 48395868 48395868 single base substitution G C exon_variant SKCA-BR 16 48395868 48395868 single base substitution G C missense_variant L158V 472C>G SKCA-BR 16 48395868 48395868 single base substitution G C missense_variant L189V 565C>G SKCA-BR 16 48395868 48395868 single base substitution G C upstream_gene_variant SKCA-BR 16 48402896 48402896 single base substitution T G intron_variant SKCA-BR 16 48402896 48402896 single base substitution T G upstream_gene_variant SKCA-BR 16 48404716 48404716 insertion of <=200bp - CAAA intron_variant SKCA-BR 16 48404716 48404716 insertion of <=200bp - CAAA upstream_gene_variant SKCA-BR 16 48410344 48410344 single base substitution G A intron_variant SKCA-BR 16 48413819 48413819 single base substitution G A intron_variant SKCA-BR 16 48416554 48416554 single base substitution A G downstream_gene_variant SKCA-BR 16 48416554 48416554 single base substitution A G intron_variant SKCA-BR 16 48419283 48419283 single base substitution T C 5_prime_UTR_variant SKCA-BR 16 48419283 48419283 single base substitution T C downstream_gene_variant SKCA-BR 16 48419283 48419283 single base substitution T C intron_variant SKCA-BR 16 48426335 48426335 single base substitution G A intron_variant SKCA-BR 16 48427522 48427522 single base substitution T A intron_variant SKCA-BR 16 48428339 48428339 single base substitution C G intron_variant SKCA-BR 16 48428339 48428339 single base substitution C G upstream_gene_variant SKCA-BR 16 48430227 48430227 single base substitution G A intron_variant SKCA-BR 16 48430227 48430227 single base substitution G A upstream_gene_variant SKCA-BR 16 48433210 48433210 single base substitution A C intron_variant SKCA-BR 16 48433278 48433278 single base substitution C T intron_variant SKCA-BR 16 48433339 48433339 single base substitution A C intron_variant SKCA-BR 16 48437009 48437009 insertion of <=200bp - GT intron_variant SKCA-BR 16 48437679 48437679 single base substitution T A intron_variant SKCA-BR 16 48437698 48437698 insertion of <=200bp - CT intron_variant SKCA-BR 16 48438883 48438883 single base substitution G A intron_variant SKCA-BR 16 48439586 48439586 single base substitution G A intron_variant SKCA-BR 16 48439618 48439618 single base substitution G A intron_variant SKCA-BR 16 48439622 48439622 single base substitution C T intron_variant SKCA-BR 16 48440773 48440773 single base substitution G A intron_variant SKCA-BR 16 48442788 48442788 single base substitution G A intron_variant SKCA-BR 16 48443736 48443736 single base substitution C T intron_variant SKCA-BR 16 48443921 48443921 single base substitution C T intron_variant SKCA-BR 16 48444500 48444500 single base substitution C T intron_variant SKCA-BR 16 48444665 48444665 single base substitution A C intron_variant SKCA-BR 16 48445411 48445411 single base substitution C T intron_variant SKCA-BR 16 48446250 48446250 single base substitution G T intron_variant SKCA-BR 16 48447349 48447349 single base substitution G A intron_variant SKCA-BR 16 48448550 48448550 single base substitution C T intron_variant SKCA-BR 16 48448984 48448984 single base substitution C T intron_variant SKCA-BR 16 48449272 48449272 single base substitution G A intron_variant SKCA-BR 16 48450187 48450187 single base substitution G A intron_variant SKCA-BR 16 48452655 48452655 single base substitution G A intron_variant SKCA-BR 16 48452655 48452655 single base substitution G A upstream_gene_variant SKCA-BR 16 48452734 48452734 single base substitution G A intron_variant SKCA-BR 16 48452734 48452734 single base substitution G A upstream_gene_variant SKCA-BR 16 48453212 48453232 deletion of <=200bp TTTTATATATATATATATATA - intron_variant SKCA-BR 16 48453212 48453232 deletion of <=200bp TTTTATATATATATATATATA - upstream_gene_variant SKCA-BR 16 48453214 48453214 insertion of <=200bp - TTA intron_variant SKCA-BR 16 48453214 48453214 insertion of <=200bp - TTA upstream_gene_variant SKCA-BR 16 48457384 48457384 single base substitution A G intron_variant SKCA-BR 16 48459269 48459269 single base substitution A T intron_variant SKCA-BR 16 48460164 48460164 single base substitution A T intron_variant SKCA-BR 16 48461801 48461801 single base substitution G A intron_variant SKCA-BR 16 48463750 48463750 insertion of <=200bp - CA intron_variant SKCA-BR 16 48466909 48466909 single base substitution C T intron_variant SKCA-BR 16 48467059 48467059 single base substitution G A intron_variant SKCA-BR 16 48467248 48467248 single base substitution C T intron_variant SKCA-BR 16 48468043 48468043 single base substitution T G intron_variant SKCA-BR 16 48468372 48468372 single base substitution A C intron_variant SKCA-BR 16 48470609 48470609 single base substitution G A intron_variant SKCA-BR 16 48471066 48471066 single base substitution T C intron_variant SKCA-BR 16 48473153 48473153 insertion of <=200bp - CAA intron_variant SKCA-BR 16 48473153 48473153 insertion of <=200bp - CA intron_variant SKCA-BR 16 48473623 48473623 single base substitution G A intron_variant SKCA-BR 16 48474749 48474749 single base substitution T A intron_variant SKCA-BR 16 48474751 48474751 single base substitution G A intron_variant SKCA-BR 16 48477128 48477128 single base substitution C T intron_variant SKCA-BR 16 48477885 48477885 single base substitution A G intron_variant SKCA-BR 16 48478227 48478227 single base substitution G A intron_variant SKCA-BR 16 48481204 48481223 deletion of <=200bp TAATAATAATAATAAAAAAA - intron_variant SKCA-BR 16 48481210 48481218 deletion of <=200bp TAATAATAA - intron_variant SKCM-US 16 48385556 48385556 single base substitution C T downstream_gene_variant STAD-US 16 48385596 48385596 single base substitution C T downstream_gene_variant STAD-US 16 48385682 48385682 single base substitution C T downstream_gene_variant STAD-US 16 48395676 48395676 single base substitution C T downstream_gene_variant STAD-US 16 48395676 48395676 single base substitution C T exon_variant STAD-US 16 48395676 48395676 single base substitution C T missense_variant A222T 664G>A STAD-US 16 48395676 48395676 single base substitution C T missense_variant A253T 757G>A STAD-US 16 48396053 48396053 deletion of <=200bp A - downstream_gene_variant STAD-US 16 48396053 48396053 deletion of <=200bp A - exon_variant STAD-US 16 48396053 48396053 deletion of <=200bp A - frameshift_variant F127 STAD-US 16 48396053 48396053 deletion of <=200bp A - frameshift_variant F96 STAD-US 16 48396053 48396053 deletion of <=200bp A - upstream_gene_variant STAD-US 16 48396331 48396331 single base substitution A G downstream_gene_variant STAD-US 16 48396331 48396331 single base substitution A G exon_variant STAD-US 16 48396331 48396331 single base substitution A G synonymous_variant R34R 102T>C STAD-US 16 48396331 48396331 single base substitution A G synonymous_variant R3R 9T>C STAD-US 16 48396331 48396331 single base substitution A G upstream_gene_variant THCA-US 16 48395650 48395650 single base substitution A G downstream_gene_variant THCA-US 16 48395650 48395650 single base substitution A G exon_variant THCA-US 16 48395650 48395650 single base substitution A G synonymous_variant H230H 690T>C THCA-US 16 48395650 48395650 single base substitution A G synonymous_variant H261H 783T>C UCEC-US 16 48385480 48385480 single base substitution C A downstream_gene_variant UCEC-US 16 48385567 48385567 single base substitution G T downstream_gene_variant UCEC-US 16 48395622 48395622 single base substitution G A downstream_gene_variant UCEC-US 16 48395622 48395622 single base substitution G A exon_variant UCEC-US 16 48395622 48395622 single base substitution G A missense_variant P240S 718C>T UCEC-US 16 48395622 48395622 single base substitution G A missense_variant P271S 811C>T UCEC-US 16 48395770 48395770 single base substitution C T downstream_gene_variant UCEC-US 16 48395770 48395770 single base substitution C T exon_variant UCEC-US 16 48395770 48395770 single base substitution C T missense_variant M190I 570G>A UCEC-US 16 48395770 48395770 single base substitution C T missense_variant M221I 663G>A UCEC-US 16 48395770 48395770 single base substitution C T upstream_gene_variant UCEC-US 16 48395868 48395868 single base substitution G T downstream_gene_variant UCEC-US 16 48395868 48395868 single base substitution G T exon_variant UCEC-US 16 48395868 48395868 single base substitution G T missense_variant L158I 472C>A UCEC-US 16 48395868 48395868 single base substitution G T missense_variant L189I 565C>A UCEC-US 16 48395868 48395868 single base substitution G T upstream_gene_variant UCEC-US 16 48395905 48395905 single base substitution C T downstream_gene_variant UCEC-US 16 48395905 48395905 single base substitution C T exon_variant UCEC-US 16 48395905 48395905 single base substitution C T missense_variant M145I 435G>A UCEC-US 16 48395905 48395905 single base substitution C T missense_variant M176I 528G>A UCEC-US 16 48395905 48395905 single base substitution C T upstream_gene_variant UCEC-US 16 48396012 48396012 single base substitution G T downstream_gene_variant UCEC-US 16 48396012 48396012 single base substitution G T exon_variant UCEC-US 16 48396012 48396012 single base substitution G T missense_variant P110T 328C>A UCEC-US 16 48396012 48396012 single base substitution G T missense_variant P141T 421C>A UCEC-US 16 48396012 48396012 single base substitution G T upstream_gene_variant UCEC-US 16 48396114 48396114 single base substitution G A downstream_gene_variant UCEC-US 16 48396114 48396114 single base substitution G A exon_variant UCEC-US 16 48396114 48396114 single base substitution G A missense_variant R107W 319C>T UCEC-US 16 48396114 48396114 single base substitution G A missense_variant R76W 226C>T UCEC-US 16 48396114 48396114 single base substitution G A upstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand ESO-837 COSM1265577 c.221C>T p.T74I Substitution - Missense 16:48362208-48362208 - T3724 COSM4725970 c.600T>C p.D200D Substitution - coding silent 16:48361829-48361829 - TCGA-D1-A16X-01 COSM971030 c.421C>A p.P141T Substitution - Missense 16:48362101-48362101 - TCGA-E2-A109-01 COSM435305 c.85A>G p.T29A Substitution - Missense 16:48362344-48362344 - TCGA-B0-4697-01 COSM3773750 c.375A>T p.V125V Substitution - coding silent 16:48362147-48362147 - TCGA-E2-A109-01 COSM435304 c.178A>G p.T60A Substitution - Missense 16:48362344-48362344 - TCGA-LG-A6GG-01 COSM4939418 c.449A>C p.E150A Substitution - Missense 16:48362073-48362073 - TCGA-BS-A0TA-01 COSM971020 c.718C>T p.P240S Substitution - Missense 16:48361711-48361711 - TCGA-HU-8602-01 COSM4060923 c.664G>A p.A222T Substitution - Missense 16:48361765-48361765 - Pat_06_A COSM5850974 c.428C>T p.A143V Substitution - Missense 16:48362001-48362001 - GC4_T COSM4782285 c.463A>C p.R155R Substitution - coding silent 16:48362059-48362059 - ESO-837 COSM1265576 c.314C>T p.T105I Substitution - Missense 16:48362208-48362208 - MO_1012 COSM5547746 c.596_597delCA p.T199fs*3 Deletion - Frameshift 16:48361925-48361926 - YUDATE COSM1709132 c.454T>A p.C152S Substitution - Missense 16:48362068-48362068 - TCGA-25-1318-01 COSM82353 c.39C>G p.T13T Substitution - coding silent 16:48362390-48362390 - TCGA-A7-A13D-01 COSM435306 c.103C>T p.Q35* Substitution - Nonsense 16:48362419-48362419 - BCM723T COSM4956245 c.526G>A p.V176I Substitution - Missense 16:48361903-48361903 - TCGA-AN-A046-01 COSM3818034 c.815G>A p.R272Q Substitution - Missense 16:48361707-48361707 - TCGA-DM-A1D6-01 COSM1378050 c.714G>A p.A238A Substitution - coding silent 16:48361715-48361715 - sysucc-311T COSM5479128 c.598G>A p.D200N Substitution - Missense 16:48361831-48361831 - ESCC_15 COSM5625632 c.495T>A p.F165L Substitution - Missense 16:48361934-48361934 - TCGA-HU-8602-01 COSM4060922 c.757G>A p.A253T Substitution - Missense 16:48361765-48361765 - CHC1052T COSM3765912 c.741T>G p.I247M Substitution - Missense 16:48361688-48361688 - TCGA-DM-A1D6-01 COSM1378049 c.807G>A p.A269A Substitution - coding silent 16:48361715-48361715 - TCGA-60-2698-01 COSM703640 c.451C>G p.Q151E Substitution - Missense 16:48361978-48361978 - TCGA-A7-A13D-01 COSM435307 c.10C>T p.Q4* Substitution - Nonsense 16:48362419-48362419 - PD22366a COSM5784299 c.576C>G p.V192V Substitution - coding silent 16:48361853-48361853 - CHC1052T COSM3765911 c.834T>G p.I278M Substitution - Missense 16:48361688-48361688 - 472 COSM4437937 c.514C>G p.L172V Substitution - Missense 16:48361915-48361915 - 1N40-VS-1T40 COSM2833167 c.669C>T p.Y223Y Substitution - coding silent 16:48361760-48361760 - TCGA-DD-A4NK-01 COSM435306 c.103C>T p.Q35* Substitution - Nonsense 16:48362419-48362419 - TCGA-AD-6964-01 COSM3691294 c.335C>A p.S112Y Substitution - Missense 16:48362187-48362187 - LS174T COSM2833186 c.324C>T p.G108G Substitution - coding silent 16:48362198-48362198 - TARGET-30-PARGKK COSM1287900 c.587T>C p.F196S Substitution - Missense 16:48361935-48361935 - TCGA-BS-A0TA-01 COSM971018 c.811C>T p.P271S Substitution - Missense 16:48361711-48361711 - Pat_58_A COSM5850975 c.479C>T p.P160L Substitution - Missense 16:48362043-48362043 - TCGA-AD-6964-01 COSM1378051 c.536T>A p.L179Q Substitution - Missense 16:48361986-48361986 - TCGA-AD-6964-01 COSM3691295 c.242C>A p.S81Y Substitution - Missense 16:48362187-48362187 - LS174T COSM2833187 c.231C>T p.G77G Substitution - coding silent 16:48362198-48362198 - CHC1052T COSM3765912 c.741T>G p.I247M Substitution - Missense 16:48361688-48361688 - BCM723T COSM4956245 c.526G>A p.V176I Substitution - Missense 16:48361903-48361903 - TCGA-D1-A16X-01 COSM971032 c.328C>A p.P110T Substitution - Missense 16:48362101-48362101 - BCM723T COSM4956244 c.619G>A p.V207I Substitution - Missense 16:48361903-48361903 - TCGA-B5-A11E-01 COSM971027 c.528G>A p.M176I Substitution - Missense 16:48361994-48361994 - PD22366a COSM5792985 c.688C>G p.H230D Substitution - Missense 16:48361741-48361741 - Pat_06_A COSM5850973 c.521C>T p.A174V Substitution - Missense 16:48362001-48362001 - sysucc-311T COSM5479127 c.691G>A p.D231N Substitution - Missense 16:48361831-48361831 - TCGA-DO-A2HM-01 COSM3370447 c.783T>C p.H261H Substitution - coding silent 16:48361739-48361739 - GB23 COSM1744361 c.664T>G p.L222V Substitution - Missense 16:48361858-48361858 - YUDATE COSM1709133 c.361T>A p.C121S Substitution - Missense 16:48362068-48362068 - LS180 COSM2833187 c.231C>T p.G77G Substitution - coding silent 16:48362198-48362198 - BCM723T COSM4956244 c.619G>A p.V207I Substitution - Missense 16:48361903-48361903 - TCGA-A5-A0VQ-01 COSM971035 c.226C>T p.R76W Substitution - Missense 16:48362203-48362203 - TCGA-D1-A103-01 COSM971021 c.663G>A p.M221I Substitution - Missense 16:48361859-48361859 - TARGET-30-PARGKK COSM1287901 c.494T>C p.F165S Substitution - Missense 16:48361935-48361935 - TCGA-DO-A2HM-01 COSM3370448 c.690T>C p.H230H Substitution - coding silent 16:48361739-48361739 - TCGA-LG-A6GG-01 COSM4939419 c.356A>C p.E119A Substitution - Missense 16:48362073-48362073 - SA229 COSM212669 c.51G>C p.L17F Substitution - Missense 16:48365427-48365427 - 472 COSM4437936 c.607C>G p.L203V Substitution - Missense 16:48361915-48361915 - PD22366a COSM5792984 c.781C>G p.H261D Substitution - Missense 16:48361741-48361741 - PD22366a COSM4437937 c.514C>G p.L172V Substitution - Missense 16:48361915-48361915 - PD22366a COSM4437936 c.607C>G p.L203V Substitution - Missense 16:48361915-48361915 - TCGA-DD-A4NK-01 COSM435307 c.10C>T p.Q4* Substitution - Nonsense 16:48362419-48362419 - TCGA-B0-4822-01 COSM3773751 c.282A>T p.V94V Substitution - coding silent 16:48362147-48362147 - MO_1012 COSM5547747 c.503_504delCA p.T168fs*3 Deletion - Frameshift 16:48361925-48361926 - TCGA-A5-A0VP-01 COSM971026 c.472C>A p.L158I Substitution - Missense 16:48361957-48361957 - PD22366a COSM5784298 c.669C>G p.V223V Substitution - coding silent 16:48361853-48361853 - TCGA-D1-A103-01 COSM971023 c.570G>A p.M190I Substitution - Missense 16:48361859-48361859 - TCGA-B0-4822-01 COSM3773750 c.375A>T p.V125V Substitution - coding silent 16:48362147-48362147 - T3724 COSM4725969 c.693T>C p.D231D Substitution - coding silent 16:48361829-48361829 - PD22366a COSM5784361 c.708C>G p.F236L Substitution - Missense 16:48361814-48361814 - TCGA-AD-6964-01 COSM1378052 c.443T>A p.L148Q Substitution - Missense 16:48361986-48361986 - EGC8 COSM5054907 c.2T>G p.M1R Substitution - Missense 16:48365476-48365476 - TCGA-HU-A4GT-01 COSM4060924 c.102T>C p.R34R Substitution - coding silent 16:48362420-48362420 - LS180 COSM2833186 c.324C>T p.G108G Substitution - coding silent 16:48362198-48362198 - GC4_T COSM148072 c.370A>C p.R124R Substitution - coding silent 16:48362059-48362059 - CSCC-40-T COSM4558952 c.786G>A p.R262R Substitution - coding silent 16:48361736-48361736 - TCGA-A5-A0VP-01 COSM971024 c.565C>A p.L189I Substitution - Missense 16:48361957-48361957 - TCGA-B0-4697-01 COSM3773751 c.282A>T p.V94V Substitution - coding silent 16:48362147-48362147 - CHC1052T COSM3765911 c.834T>G p.I278M Substitution - Missense 16:48361688-48361688 - Pat_58_A COSM5850976 c.386C>T p.P129L Substitution - Missense 16:48362043-48362043 - PD22366a COSM5795954 c.839C>A p.S280Y Substitution - Missense 16:48361590-48361590 - TCGA-B5-A11E-01 COSM971029 c.435G>A p.M145I Substitution - Missense 16:48361994-48361994 - ESCC_15 COSM5625631 c.588T>A p.F196L Substitution - Missense 16:48361934-48361934 - TCGA-AN-A046-01 COSM3818035 c.722G>A p.R241Q Substitution - Missense 16:48361707-48361707 - 1N40-VS-1T40 COSM2833166 c.762C>T p.Y254Y Substitution - coding silent 16:48361760-48361760 - TCGA-A5-A0VQ-01 COSM971033 c.319C>T p.R107W Substitution - Missense 16:48362203-48362203 - PD22366a COSM5784362 c.615C>G p.F205L Substitution - Missense 16:48361814-48361814 - CSCC-40-T COSM4558953 c.693G>A p.R231R Substitution - coding silent 16:48361736-48361736 - GB23 COSM1744362 c.571T>G p.L191V Substitution - Missense 16:48361858-48361858 - TCGA-60-2698-01 COSM703639 c.544C>G p.Q182E Substitution - Missense 16:48361978-48361978 - PD22366a COSM5795953 c.932C>A p.S311Y Substitution - Missense 16:48361590-48361590 - TCGA-HU-A4GT-01 COSM4060925 c.9T>C p.R3R Substitution - coding silent 16:48362420-48362420 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.706828 16q12 602212 2453898|CGAP|BC042550|A/G|non-coding||2181|Candidate; 2453899|CGAP|BC042550|A/G|non-coding||2172|Validated Hs.743277 16q12 602212 2453898|CGAP|BC042550|A/G|non-coding||2181|Candidate; 2453899|CGAP|BC042550|A/G|non-coding||2172|Validated

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer AA - Frameshift p.F70*fs*1 c.209_210delTT 16 48396223 LGG A G Missense p.F196S c.587T>C 16 48395846 NB A G Synonymous p.H261H c.783T>C 16 48395650 THCA C G Missense p.L17F c.51G>C 16 48399338 BRCA G A Missense p.A269V c.806C>T 16 48395627 COREAD G A Missense p.P271S c.811C>T 16 48395622 UCEC G A Missense p.R107W c.319C>T 16 48396114 UCEC G A Missense p.R246C c.736C>T 16 48395697 HNSC G A Missense p.T105I c.314C>T 16 48396119 ESCA G A Nonsense p.Q35* c.103C>T 16 48396330 BRCA G C Synonymous p.T44T c.132C>G 16 48396301 OV G T Missense p.L189I c.565C>A 16 48395868 UCEC T A Synonymous p.V125V c.375A>T 16 48396058 RCCC T C Missense p.T60A c.178A>G 16 48396255 BRCA