Mutation - TCGA Type Chromosome Start Position End Position Strand Variant Classification Variant Type Reference Allele Tumor_seq Allele 1 Tumor_seq Allele 2 Tumor Sample Barcode Matched Norm Sample Barcode Genome Change cDNA Change Codon Change Protein Change ACC 16 31235631 31235631 + Missense_Mutation SNP A A T TCGA-OR-A5KB-01A-11D-A30A-10 TCGA-OR-A5KB-11A-11D-A30A-10 g.chr16:31235631A>T c.989A>T c.(988-990)aAg>aTg p.K330M BLCA 16 31226097 31226097 + IGR SNP C C G TCGA-G2-A3IE-01A-11D-A20D-08 TCGA-G2-A3IE-10A-01D-A20D-08 g.chr16:31226097C>G BLCA 16 31226446 31226446 + IGR SNP C C T TCGA-XF-AAN3-01A-11D-A42E-08 TCGA-XF-AAN3-10A-01D-A42H-08 g.chr16:31226446C>T BLCA 16 31230452 31230452 + 5'Flank SNP G G A TCGA-DK-A6AW-01A-11D-A30E-08 TCGA-DK-A6AW-10A-01D-A30H-08 g.chr16:31230452G>A BLCA 16 31230742 31230742 + 5'Flank SNP C C G TCGA-E5-A4U1-01A-11D-A31L-08 TCGA-E5-A4U1-10B-01D-A31J-08 g.chr16:31230742C>G BLCA 16 31235662 31235662 + Silent SNP C C G TCGA-DK-A3X1-01A-12D-A22Z-08 TCGA-DK-A3X1-10A-01D-A22Z-08 g.chr16:31235662C>G c.1020C>G c.(1018-1020)ctC>ctG p.L340L BRCA 16 31230728 31230728 + 5'Flank SNP G G A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 g.chr16:31230728G>A BRCA 16 31235541 31235541 + Missense_Mutation SNP C C A TCGA-GM-A2DH-01A-11D-A17W-09 TCGA-GM-A2DH-10C-01D-A17W-09 g.chr16:31235541C>A c.899C>A c.(898-900)cCg>cAg p.P300Q CESC 16 31230472 31230472 + 5'Flank SNP G G A TCGA-C5-A2LZ-01A-11D-A20U-09 TCGA-C5-A2LZ-10B-01D-A20U-09 g.chr16:31230472G>A CESC 16 31235640 31235640 + Missense_Mutation SNP C C T TCGA-JW-A5VL-01A-11D-A28B-09 TCGA-JW-A5VL-10A-01D-A28E-09 g.chr16:31235640C>T c.998C>T c.(997-999)gCg>gTg p.A333V CESC 16 31235905 31235905 + Silent SNP C C T TCGA-EK-A2RB-01A-11D-A18J-09 TCGA-EK-A2RB-10A-01D-A18J-09 g.chr16:31235905C>T c.1263C>T c.(1261-1263)gaC>gaT p.D421D COAD 16 31230669 31230669 + 5'Flank SNP C C T TCGA-AA-3530-01A-01W-0995-10 TCGA-AA-3530-10A-01W-0995-10 g.chr16:31230669C>T COAD 16 31234173 31234173 + Frame_Shift_Del DEL C C - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr16:31234173delC c.766delC c.(766-768)cccfs p.P258fs COAD 16 31234182 31234182 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr16:31234182G>A c.775G>A c.(775-777)Gcc>Acc p.A259T COAD 16 31235536 31235536 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr16:31235536G>A c.894G>A c.(892-894)gcG>gcA p.A298A COADREAD 16 31230669 31230669 + 5'Flank SNP C C T TCGA-AA-3530-01A-01W-0995-10 TCGA-AA-3530-10A-01W-0995-10 g.chr16:31230669C>T COADREAD 16 31234173 31234173 + Frame_Shift_Del DEL C C - TCGA-CK-6746-01A-11D-1835-10 TCGA-CK-6746-10A-01D-1835-10 g.chr16:31234173delC c.766delC c.(766-768)cccfs p.P258fs COADREAD 16 31234182 31234182 + Missense_Mutation SNP G G A TCGA-AA-A01R-01A-21W-A096-10 TCGA-AA-A01R-11A-12W-A096-10 g.chr16:31234182G>A c.775G>A c.(775-777)Gcc>Acc p.A259T COADREAD 16 31235536 31235536 + Silent SNP G G A TCGA-G4-6628-01A-11D-1835-10 TCGA-G4-6628-10A-01D-1835-10 g.chr16:31235536G>A c.894G>A c.(892-894)gcG>gcA p.A298A DLBC 16 31230671 31230671 + 5'Flank SNP T T C TCGA-RQ-AAAT-01A-11D-A38X-10 TCGA-RQ-AAAT-10A-01D-A38X-10 g.chr16:31230671T>C DLBC 16 31235548 31235548 + Silent SNP G G C TCGA-G8-6324-01A-11D-2210-10 TCGA-G8-6324-10A-01D-2210-10 g.chr16:31235548G>C c.906G>C c.(904-906)ctG>ctC p.L302L GBM 16 31235634 31235634 + Missense_Mutation SNP C C T TCGA-27-1832-01A-01W-0643-08 TCGA-27-1832-10A-01W-0644-08 g.chr16:31235634C>T c.992C>T c.(991-993)gCg>gTg p.A331V GBMLGG 16 31230620 31230620 + 5'Flank SNP G G A TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr16:31230620G>A GBMLGG 16 31230715 31230715 + 5'Flank SNP C C T TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 g.chr16:31230715C>T GBMLGG 16 31235634 31235634 + Missense_Mutation SNP C C T TCGA-27-1832-01A-01W-0643-08 TCGA-27-1832-10A-01W-0644-08 g.chr16:31235634C>T c.992C>T c.(991-993)gCg>gTg p.A331V HNSC 16 31235598 31235598 + Missense_Mutation SNP C C T TCGA-F7-A624-01A-22D-A30E-08 TCGA-F7-A624-10A-01D-A30H-08 g.chr16:31235598C>T c.956C>T c.(955-957)cCg>cTg p.P319L KIPAN 16 31226442 31226442 + IGR SNP G G A TCGA-DW-7963-01B-11D-A28G-10 TCGA-DW-7963-10C-01D-A28G-10 g.chr16:31226442G>A KIRP 16 31226442 31226442 + IGR SNP G G A TCGA-DW-7963-01B-11D-A28G-10 TCGA-DW-7963-10C-01D-A28G-10 g.chr16:31226442G>A LGG 16 31230620 31230620 + 5'Flank SNP G G A TCGA-HT-8564-01A-11D-2395-08 TCGA-HT-8564-10A-01D-2396-08 g.chr16:31230620G>A LGG 16 31230715 31230715 + 5'Flank SNP C C T TCGA-DU-A76R-01A-11D-A32B-08 TCGA-DU-A76R-10A-01D-A329-08 g.chr16:31230715C>T LIHC 16 31226233 31226233 + IGR SNP C C T TCGA-2Y-A9GU-01A-11D-A382-10 TCGA-2Y-A9GU-10A-01D-A385-10 g.chr16:31226233C>T LIHC 16 31226434 31226434 + IGR SNP C C T TCGA-UB-AA0U-01A-11D-A382-10 TCGA-UB-AA0U-10A-01D-A385-10 g.chr16:31226434C>T LIHC 16 31235616 31235616 + Missense_Mutation SNP C C T TCGA-RC-A6M3-01A-11D-A32G-10 TCGA-RC-A6M3-10A-01D-A32G-10 g.chr16:31235616C>T c.974C>T c.(973-975)cCg>cTg p.P325L LUAD 16 31230609 31230609 + 5'Flank SNP G G T TCGA-50-5045-01A-01D-1625-08 TCGA-50-5045-10A-01D-1625-08 g.chr16:31230609G>T LUAD 16 31230629 31230629 + 5'Flank DEL G G - TCGA-97-8172-01A-11D-2284-08 TCGA-97-8172-10A-01D-2284-08 g.chr16:31230629delG LUAD 16 31230632 31230632 + 5'Flank SNP G G T TCGA-95-7039-01A-11D-1945-08 TCGA-95-7039-10A-01D-1946-08 g.chr16:31230632G>T LUAD 16 31230652 31230652 + 5'Flank SNP G G T TCGA-05-4390-01A-02D-1753-08 TCGA-05-4390-10A-01D-1753-08 g.chr16:31230652G>T LUAD 16 31230653 31230653 + 5'Flank SNP G G A TCGA-86-8073-01A-11D-2238-08 TCGA-86-8073-10A-01D-2238-08 g.chr16:31230653G>A LUAD 16 31230733 31230733 + 5'Flank SNP G G A TCGA-MP-A4SW-01A-21D-A24P-08 TCGA-MP-A4SW-10A-01D-A24P-08 g.chr16:31230733G>A LUAD 16 31230798 31230798 + 5'Flank SNP C C T TCGA-55-A4DF-01A-11D-A24D-08 TCGA-55-A4DF-10A-01D-A24F-08 g.chr16:31230798C>T LUAD 16 31230804 31230804 + 5'Flank SNP G G T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr16:31230804G>T LUAD 16 31234173 31234173 + Frame_Shift_Del DEL C C - TCGA-64-5815-01A-01D-1625-08 TCGA-64-5815-10A-01D-1625-08 g.chr16:31234173delC c.766delC c.(766-768)cccfs p.P258fs LUAD 16 31234185 31234185 + Missense_Mutation SNP C C A TCGA-50-5933-01A-11D-1753-08 TCGA-50-5933-11A-01D-1753-08 g.chr16:31234185C>A c.778C>A c.(778-780)Cgt>Agt p.R260S LUSC 16 31226446 31226446 + IGR SNP C C G TCGA-39-5037-01A-01D-1441-08 TCGA-39-5037-11A-01D-1441-08 g.chr16:31226446C>G LUSC 16 31230814 31230814 + 5'Flank SNP G G C TCGA-56-6546-01A-11D-1817-08 TCGA-56-6546-10A-01D-1817-08 g.chr16:31230814G>C LUSC 16 31235551 31235551 + Silent SNP G G T TCGA-34-2596-01A-01D-1522-08 TCGA-34-2596-11A-01D-1522-08 g.chr16:31235551G>T c.909G>T c.(907-909)gtG>gtT p.V303V LUSC 16 31235576 31235576 + Missense_Mutation SNP G G A TCGA-66-2763-01A-01D-1522-08 TCGA-66-2763-11A-01D-1522-08 g.chr16:31235576G>A c.934G>A c.(934-936)Gag>Aag p.E312K PRAD 16 31226130 31226130 + IGR SNP C C T TCGA-ZG-A9ND-01A-11D-A41K-08 TCGA-ZG-A9ND-10A-01D-A41N-08 g.chr16:31226130C>T PRAD 16 31234164 31234164 + Missense_Mutation SNP G G T TCGA-XQ-A8TA-01A-11D-A364-08 TCGA-XQ-A8TA-10A-01D-A362-08 g.chr16:31234164G>T c.757G>T c.(757-759)Gca>Tca p.A253S SKCM 16 31230642 31230642 + 5'Flank SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:31230642G>A SKCM 16 31230802 31230802 + 5'Flank SNP G G A TCGA-D3-A51G-06A-11D-A25O-08 TCGA-D3-A51G-10A-01D-A25O-08 g.chr16:31230802G>A SKCM 16 31230829 31230829 + 5'Flank SNP G G T TCGA-D9-A6EC-06A-11D-A30X-08 TCGA-D9-A6EC-10A-01D-A30X-08 g.chr16:31230829G>T SKCM 16 31232216 31232216 + Splice_Site SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:31232216G>A c.e5-1 SKCM 16 31234160 31234160 + Silent SNP C C T TCGA-EE-A3AG-06A-31D-A196-08 TCGA-EE-A3AG-10A-01D-A198-08 g.chr16:31234160C>T c.753C>T c.(751-753)atC>atT p.I251I SKCM 16 31234238 31234238 + Nonsense_Mutation SNP G G A TCGA-EE-A2GI-06A-11D-A196-08 TCGA-EE-A2GI-10A-01D-A198-08 g.chr16:31234238G>A c.831G>A c.(829-831)tgG>tgA p.W277* SKCM 16 31235609 31235609 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr16:31235609G>A c.967G>A c.(967-969)Gag>Aag p.E323K

Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 16 31226097 31226097 single base substitution C G missense_variant S13C 38C>G BLCA-US 16 31228334 31228334 single base substitution C T intron_variant BLCA-US 16 31235662 31235662 single base substitution C G synonymous_variant L340L 1020C>G BRCA-EU 16 31221986 31221986 single base substitution G C upstream_gene_variant BRCA-EU 16 31222252 31222252 single base substitution G C upstream_gene_variant BRCA-EU 16 31222313 31222313 single base substitution C G upstream_gene_variant BRCA-EU 16 31222905 31222905 single base substitution C T upstream_gene_variant BRCA-EU 16 31225598 31225598 single base substitution C G 5_prime_UTR_variant BRCA-EU 16 31228079 31228079 single base substitution C T intron_variant BRCA-EU 16 31228902 31228902 single base substitution C G intron_variant BRCA-EU 16 31231001 31231001 single base substitution C A intron_variant BRCA-EU 16 31231634 31231634 single base substitution A G intron_variant BRCA-EU 16 31232149 31232149 single base substitution C A intron_variant BRCA-EU 16 31233427 31233427 single base substitution A C intron_variant BRCA-EU 16 31233930 31233930 single base substitution T C intron_variant BRCA-EU 16 31235363 31235363 single base substitution A T intron_variant BRCA-EU 16 31237230 31237230 single base substitution A G downstream_gene_variant BRCA-EU 16 31238443 31238443 single base substitution G C downstream_gene_variant BRCA-EU 16 31239553 31239553 single base substitution G C downstream_gene_variant BRCA-FR 16 31222252 31222252 single base substitution G C upstream_gene_variant BRCA-FR 16 31225598 31225598 single base substitution C G 5_prime_UTR_variant BRCA-FR 16 31236276 31236276 single base substitution C T 3_prime_UTR_variant BRCA-FR 16 31239291 31239291 single base substitution G C downstream_gene_variant BRCA-FR 16 31239553 31239553 single base substitution G C downstream_gene_variant BRCA-US 16 31230728 31230728 single base substitution G A missense_variant G202E 605G>A BRCA-US 16 31235541 31235541 single base substitution C A missense_variant P300Q 899C>A BTCA-JP 16 31234259 31234259 single base substitution G T synonymous_variant L284L 852G>T CESC-US 16 31230472 31230472 single base substitution G A synonymous_variant K149K 447G>A CESC-US 16 31235640 31235640 single base substitution C T missense_variant A333V 998C>T CESC-US 16 31235905 31235905 single base substitution C T synonymous_variant D421D 1263C>T CLLE-ES 16 31236603 31236603 single base substitution G T downstream_gene_variant COAD-US 16 31235536 31235536 single base substitution G A synonymous_variant A298A 894G>A COAD-US 16 31235640 31235640 single base substitution C T missense_variant A333V 998C>T COCA-CN 16 31232489 31232489 single base substitution G A intron_variant COCA-CN 16 31236137 31236137 single base substitution C T 3_prime_UTR_variant EOPC-DE 16 31221921 31221921 single base substitution T C upstream_gene_variant EOPC-DE 16 31234220 31234220 single base substitution C T synonymous_variant D271D 813C>T ESAD-UK 16 31231956 31231956 deletion of <=200bp T - intron_variant ESAD-UK 16 31231956 31231956 insertion of <=200bp - T intron_variant ESAD-UK 16 31235698 31235698 single base substitution C T synonymous_variant G352G 1056C>T ESAD-UK 16 31235745 31235745 single base substitution G A missense_variant R368H 1103G>A ESAD-UK 16 31235938 31235938 single base substitution C A synonymous_variant A432A 1296C>A ESAD-UK 16 31235944 31235944 single base substitution G A synonymous_variant A434A 1302G>A ESAD-UK 16 31236039 31236039 single base substitution C T missense_variant P466L 1397C>T ESAD-UK 16 31236282 31236282 single base substitution C T 3_prime_UTR_variant ESAD-UK 16 31239932 31239932 single base substitution G A downstream_gene_variant ESAD-UK 16 31240694 31240694 single base substitution G A downstream_gene_variant ESAD-UK 16 31241076 31241076 single base substitution A C downstream_gene_variant ESCA-CN 16 31228190 31228190 single base substitution C G intron_variant ESCA-CN 16 31235616 31235616 single base substitution C T missense_variant P325L 974C>T ESCA-CN 16 31235939 31235939 single base substitution G C missense_variant D433H 1297G>C GBM-US 16 31235634 31235634 single base substitution C T missense_variant A331V 992C>T KIRC-US 16 31228342 31228342 single base substitution G C intron_variant KIRP-US 16 31228204 31228204 single base substitution A G intron_variant LAML-KR 16 31220349 31220349 single base substitution C A upstream_gene_variant LAML-KR 16 31223907 31223907 single base substitution C T upstream_gene_variant LAML-KR 16 31223908 31223908 single base substitution A G upstream_gene_variant LGG-US 16 31230620 31230620 single base substitution G A missense_variant R166H 497G>A LICA-CN 16 31235819 31235819 single base substitution G T missense_variant A393S 1177G>T LICA-FR 16 31222398 31222398 single base substitution A C upstream_gene_variant LICA-FR 16 31228197 31228197 single base substitution G A intron_variant LICA-FR 16 31234151 31234151 single base substitution G A synonymous_variant L248L 744G>A LICA-FR 16 31238585 31238585 single base substitution C T downstream_gene_variant LIHC-US 16 31228226 31228226 single base substitution C A intron_variant LINC-JP 16 31229881 31229881 single base substitution T C intron_variant LINC-JP 16 31232324 31232324 single base substitution G T intron_variant LIRI-JP 16 31224777 31224777 single base substitution C T upstream_gene_variant LIRI-JP 16 31225804 31225804 single base substitution G A intron_variant LIRI-JP 16 31228392 31228392 single base substitution T C intron_variant LIRI-JP 16 31229826 31229826 single base substitution A G intron_variant LIRI-JP 16 31230950 31230950 single base substitution A C intron_variant LIRI-JP 16 31234077 31234077 single base substitution A G intron_variant LIRI-JP 16 31234730 31234731 deletion of <=200bp TT - intron_variant LIRI-JP 16 31235217 31235217 single base substitution A C intron_variant LIRI-JP 16 31236083 31236083 single base substitution G A 3_prime_UTR_variant LIRI-JP 16 31236206 31236206 single base substitution C T 3_prime_UTR_variant LIRI-JP 16 31237509 31237509 single base substitution C T downstream_gene_variant LIRI-JP 16 31238177 31238177 single base substitution C T downstream_gene_variant LIRI-JP 16 31239362 31239362 single base substitution C A downstream_gene_variant LIRI-JP 16 31240613 31240613 single base substitution G A downstream_gene_variant LUSC-KR 16 31229229 31229229 single base substitution C T intron_variant LUSC-KR 16 31234090 31234090 single base substitution C T intron_variant LUSC-KR 16 31236913 31236913 single base substitution C T downstream_gene_variant LUSC-KR 16 31237114 31237114 single base substitution C T downstream_gene_variant LUSC-KR 16 31238048 31238048 single base substitution T A downstream_gene_variant LUSC-KR 16 31240053 31240053 single base substitution A G downstream_gene_variant LUSC-KR 16 31240765 31240765 single base substitution G C downstream_gene_variant LUSC-KR 16 31241413 31241413 single base substitution G T downstream_gene_variant LUSC-KR 16 31241489 31241489 single base substitution A T downstream_gene_variant LUSC-US 16 31226446 31226446 single base substitution C G synonymous_variant L129L 387C>G LUSC-US 16 31228292 31228292 single base substitution G A intron_variant LUSC-US 16 31230814 31230814 single base substitution G C missense_variant D231H 691G>C LUSC-US 16 31235551 31235551 single base substitution G T synonymous_variant V303V 909G>T LUSC-US 16 31235576 31235576 single base substitution G A missense_variant E312K 934G>A MALY-DE 16 31225927 31225927 single base substitution G A intron_variant MELA-AU 16 31220780 31220780 single base substitution C T upstream_gene_variant MELA-AU 16 31220803 31220803 single base substitution T C upstream_gene_variant MELA-AU 16 31220847 31220847 single base substitution G A upstream_gene_variant MELA-AU 16 31220854 31220854 single base substitution G A upstream_gene_variant MELA-AU 16 31221124 31221124 single base substitution C T upstream_gene_variant MELA-AU 16 31222011 31222011 single base substitution G A upstream_gene_variant MELA-AU 16 31222068 31222068 single base substitution G A upstream_gene_variant MELA-AU 16 31222504 31222504 single base substitution C T upstream_gene_variant MELA-AU 16 31223087 31223087 single base substitution G A upstream_gene_variant MELA-AU 16 31223230 31223230 single base substitution C T upstream_gene_variant MELA-AU 16 31223312 31223312 single base substitution G A upstream_gene_variant MELA-AU 16 31223506 31223506 single base substitution G A upstream_gene_variant MELA-AU 16 31223599 31223599 single base substitution G A upstream_gene_variant MELA-AU 16 31223846 31223846 single base substitution G A upstream_gene_variant MELA-AU 16 31224028 31224028 single base substitution C T upstream_gene_variant MELA-AU 16 31224252 31224252 single base substitution G A upstream_gene_variant MELA-AU 16 31224309 31224309 single base substitution C T upstream_gene_variant MELA-AU 16 31225004 31225004 single base substitution G A upstream_gene_variant MELA-AU 16 31225033 31225033 single base substitution C T upstream_gene_variant MELA-AU 16 31225496 31225496 single base substitution C T 5_prime_UTR_variant MELA-AU 16 31226330 31226330 single base substitution G A missense_variant D91N 271G>A MELA-AU 16 31227076 31227076 insertion of <=200bp - GGGG intron_variant MELA-AU 16 31227315 31227315 single base substitution G A intron_variant MELA-AU 16 31227618 31227618 single base substitution C T intron_variant MELA-AU 16 31227706 31227706 single base substitution T A intron_variant MELA-AU 16 31227797 31227797 single base substitution G C intron_variant MELA-AU 16 31227956 31227956 single base substitution G A intron_variant MELA-AU 16 31228185 31228185 single base substitution C T intron_variant MELA-AU 16 31228546 31228546 single base substitution G A intron_variant MELA-AU 16 31228917 31228917 single base substitution G A intron_variant MELA-AU 16 31229403 31229403 single base substitution C T intron_variant MELA-AU 16 31229466 31229466 single base substitution G A intron_variant MELA-AU 16 31229639 31229639 single base substitution G A intron_variant MELA-AU 16 31229695 31229695 single base substitution C T intron_variant MELA-AU 16 31229750 31229750 single base substitution C T intron_variant MELA-AU 16 31229886 31229886 single base substitution C T intron_variant MELA-AU 16 31230139 31230139 single base substitution C T intron_variant MELA-AU 16 31230264 31230264 single base substitution G A intron_variant MELA-AU 16 31230283 31230283 single base substitution G A intron_variant MELA-AU 16 31230357 31230357 single base substitution G A intron_variant MELA-AU 16 31230526 31230526 single base substitution G A intron_variant MELA-AU 16 31230639 31230639 single base substitution G A synonymous_variant V172V 516G>A MELA-AU 16 31230798 31230798 single base substitution C T synonymous_variant V225V 675C>T MELA-AU 16 31231224 31231224 single base substitution C A intron_variant MELA-AU 16 31231265 31231265 single base substitution C T intron_variant MELA-AU 16 31232181 31232181 single base substitution C T intron_variant MELA-AU 16 31232246 31232246 single base substitution G T splice_region_variant MELA-AU 16 31232402 31232402 single base substitution G A intron_variant MELA-AU 16 31232634 31232634 single base substitution A T intron_variant MELA-AU 16 31232667 31232667 single base substitution G A intron_variant MELA-AU 16 31233255 31233255 single base substitution G A intron_variant MELA-AU 16 31233299 31233299 single base substitution G A intron_variant MELA-AU 16 31234875 31234875 single base substitution C T intron_variant MELA-AU 16 31235123 31235123 single base substitution G A intron_variant MELA-AU 16 31235139 31235139 single base substitution G A intron_variant MELA-AU 16 31235469 31235470 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 16 31235793 31235793 single base substitution G A missense_variant G384E 1151G>A MELA-AU 16 31236069 31236069 single base substitution A G missense_variant E476G 1427A>G MELA-AU 16 31236137 31236137 single base substitution C T 3_prime_UTR_variant MELA-AU 16 31236406 31236406 single base substitution G A 3_prime_UTR_variant MELA-AU 16 31236513 31236513 single base substitution A G downstream_gene_variant MELA-AU 16 31236566 31236566 single base substitution T C downstream_gene_variant MELA-AU 16 31236602 31236602 single base substitution G A downstream_gene_variant MELA-AU 16 31236796 31236796 single base substitution G A downstream_gene_variant MELA-AU 16 31236901 31236901 single base substitution G A downstream_gene_variant MELA-AU 16 31238453 31238453 single base substitution A G downstream_gene_variant MELA-AU 16 31238491 31238491 single base substitution C T downstream_gene_variant MELA-AU 16 31239291 31239291 single base substitution G A downstream_gene_variant MELA-AU 16 31239362 31239362 single base substitution C T downstream_gene_variant MELA-AU 16 31239795 31239795 single base substitution G A downstream_gene_variant MELA-AU 16 31240028 31240028 single base substitution G A downstream_gene_variant MELA-AU 16 31240642 31240642 single base substitution C T downstream_gene_variant MELA-AU 16 31240984 31240984 single base substitution C T downstream_gene_variant MELA-AU 16 31241469 31241469 single base substitution C T downstream_gene_variant ORCA-IN 16 31226388 31226388 single base substitution C T missense_variant S110L 329C>T ORCA-IN 16 31236012 31236012 single base substitution G T missense_variant W457L 1370G>T OV-AU 16 31220574 31220574 single base substitution T C upstream_gene_variant OV-AU 16 31221342 31221342 single base substitution C A upstream_gene_variant OV-AU 16 31225562 31225562 single base substitution C G 5_prime_UTR_premature_start_codon_gain_variant OV-AU 16 31227123 31227123 single base substitution C G intron_variant OV-AU 16 31229642 31229642 single base substitution G T intron_variant OV-AU 16 31231383 31231383 single base substitution C A intron_variant OV-AU 16 31232089 31232089 single base substitution G T intron_variant OV-AU 16 31234734 31234734 single base substitution A C intron_variant OV-AU 16 31237483 31237483 single base substitution G A downstream_gene_variant OV-AU 16 31238626 31238626 single base substitution A G downstream_gene_variant OV-AU 16 31238800 31238800 single base substitution G T downstream_gene_variant PACA-AU 16 31221707 31221707 single base substitution T C upstream_gene_variant PACA-AU 16 31222340 31222340 single base substitution G A upstream_gene_variant PACA-AU 16 31226504 31226504 single base substitution A T intron_variant PACA-AU 16 31232094 31232094 single base substitution T G intron_variant PACA-AU 16 31234171 31234171 single base substitution C T missense_variant S255F 764C>T PACA-AU 16 31234309 31234309 single base substitution T A intron_variant PACA-AU 16 31235221 31235221 single base substitution C T intron_variant PACA-AU 16 31235716 31235716 single base substitution G T synonymous_variant A358A 1074G>T PACA-AU 16 31237509 31237509 single base substitution C A downstream_gene_variant PACA-AU 16 31240889 31240889 single base substitution G T downstream_gene_variant PACA-CA 16 31224075 31224075 single base substitution G A upstream_gene_variant PACA-CA 16 31224423 31224423 single base substitution G A upstream_gene_variant PACA-CA 16 31226398 31226398 single base substitution G C synonymous_variant S113S 339G>C PACA-CA 16 31227761 31227761 single base substitution C A intron_variant PACA-CA 16 31228157 31228157 single base substitution C T intron_variant PACA-CA 16 31232971 31232971 single base substitution A G intron_variant PACA-CA 16 31234271 31234271 single base substitution C T splice_region_variant PACA-CA 16 31237322 31237322 single base substitution G A downstream_gene_variant PACA-CA 16 31238177 31238177 single base substitution C T downstream_gene_variant PACA-CA 16 31238979 31238979 single base substitution C G downstream_gene_variant PACA-CA 16 31239979 31239979 single base substitution G A downstream_gene_variant PBCA-DE 16 31222532 31222532 single base substitution C T upstream_gene_variant PBCA-DE 16 31233045 31233045 single base substitution G A intron_variant PBCA-DE 16 31235995 31235995 single base substitution C A synonymous_variant P451P 1353C>A PBCA-DE 16 31240207 31240207 single base substitution T C downstream_gene_variant PBCA-DE 16 31241022 31241022 single base substitution G T downstream_gene_variant PRAD-CA 16 31234464 31234464 single base substitution G T intron_variant PRAD-CA 16 31234668 31234668 single base substitution C T intron_variant PRAD-UK 16 31220942 31220942 single base substitution T G upstream_gene_variant PRAD-UK 16 31223616 31223616 insertion of <=200bp - T upstream_gene_variant PRAD-UK 16 31223624 31223624 insertion of <=200bp - T upstream_gene_variant PRAD-UK 16 31230021 31230021 single base substitution A T intron_variant PRAD-UK 16 31232488 31232502 multiple base substitution (>=2bp and <=200bp) CGTTGAGGGAAAGAG CAT intron_variant READ-US 16 31235617 31235617 single base substitution G A synonymous_variant P325P 975G>A RECA-EU 16 31224153 31224153 single base substitution T A upstream_gene_variant RECA-EU 16 31232709 31232709 single base substitution A T intron_variant RECA-EU 16 31238178 31238178 single base substitution G A downstream_gene_variant RECA-EU 16 31239043 31239043 single base substitution T C downstream_gene_variant RECA-EU 16 31239381 31239381 single base substitution C T downstream_gene_variant SKCA-BR 16 31225496 31225496 single base substitution C T 5_prime_UTR_variant SKCA-BR 16 31226699 31226699 single base substitution C T intron_variant SKCA-BR 16 31227117 31227117 single base substitution G A intron_variant SKCA-BR 16 31229060 31229060 single base substitution C T intron_variant SKCA-BR 16 31229719 31229719 single base substitution C T intron_variant SKCA-BR 16 31229764 31229764 single base substitution G T intron_variant SKCA-BR 16 31233202 31233202 single base substitution G A intron_variant SKCA-BR 16 31234129 31234129 single base substitution T C intron_variant SKCA-BR 16 31235916 31235916 single base substitution C T missense_variant S425F 1274C>T SKCA-BR 16 31240003 31240003 single base substitution C T downstream_gene_variant SKCM-US 16 31228283 31228283 single base substitution A G intron_variant SKCM-US 16 31230642 31230642 single base substitution G A synonymous_variant G173G 519G>A SKCM-US 16 31230790 31230790 single base substitution G T stop_gained E223* 667G>T SKCM-US 16 31230802 31230802 single base substitution G A missense_variant E227K 679G>A SKCM-US 16 31230829 31230829 single base substitution G T stop_gained E236* 706G>T SKCM-US 16 31232216 31232216 single base substitution G A splice_acceptor_variant SKCM-US 16 31234160 31234160 single base substitution C T synonymous_variant I251I 753C>T SKCM-US 16 31234238 31234238 single base substitution G A stop_gained W277* 831G>A SKCM-US 16 31235609 31235609 single base substitution G A missense_variant E323K 967G>A STAD-US 16 31228091 31228091 single base substitution G A intron_variant STAD-US 16 31228238 31228238 single base substitution G A intron_variant STAD-US 16 31228252 31228252 single base substitution C T intron_variant STAD-US 16 31228272 31228272 single base substitution C T intron_variant STAD-US 16 31230619 31230619 single base substitution C T missense_variant R166C 496C>T STAD-US 16 31232220 31232220 single base substitution T C missense_variant Y241H 721T>C STAD-US 16 31232241 31232241 single base substitution T C splice_donor_variant STAD-US 16 31234251 31234251 single base substitution C T missense_variant R282W 844C>T STAD-US 16 31235536 31235536 single base substitution G A synonymous_variant A298A 894G>A STAD-US 16 31235606 31235606 single base substitution G A missense_variant G322R 964G>A STAD-US 16 31236013 31236013 single base substitution G A stop_gained W457* 1371G>A UCEC-US 16 31228130 31228130 single base substitution G A intron_variant UCEC-US 16 31228177 31228177 single base substitution G A intron_variant UCEC-US 16 31230831 31230831 single base substitution G T missense_variant E236D 708G>T UCEC-US 16 31234185 31234185 single base substitution C T missense_variant R260C 778C>T UCEC-US 16 31235527 31235527 single base substitution G A synonymous_variant P295P 885G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-DK-A3X1-01 COSM3794820 c.1020C>G p.L340L Substitution - coding silent 16:31224341-31224341 + T3080 COSM4736235 c.985G>A p.D329N Substitution - Missense 16:31224306-31224306 + TCGA-GM-A2DH-01 COSM3817869 c.899C>A p.P300Q Substitution - Missense 16:31224220-31224220 + 587316 COSM1230418 c.505C>T p.R169W Substitution - Missense 16:31219307-31219307 + CSCC-1-T COSM4550773 c.508G>A p.G170R Substitution - Missense 16:31219310-31219310 + ME016T COSM225042 c.979C>T p.Q327* Substitution - Nonsense 16:31224300-31224300 + ESCC_BICR_067T COSM5433394 c.974C>T p.P325L Substitution - Missense 16:31224295-31224295 + 442 COSM4434616 c.993G>A p.A331A Substitution - coding silent 16:31224314-31224314 + HCC126T COSM5818843 c.1177G>T p.A393S Substitution - Missense 16:31224498-31224498 + S02351 COSM5695030 c.412C>A p.L138M Substitution - Missense 16:31219116-31219116 + PTC-515C COSM5446342 c.891delT p.A298fs*64 Deletion - Frameshift 16:31224212-31224212 + TCGA-27-1832-01 COSM2917822 c.992C>T p.A331V Substitution - Missense 16:31224313-31224313 + LUAD-RT-S01702 COSM379097 c.1084A>G p.I362V Substitution - Missense 16:31224405-31224405 + CSCC-62-T COSM4459720 c.1137C>T p.G379G Substitution - coding silent 16:31224458-31224458 + TARGET-30-PARRLH COSM1288632 c.1097delC p.R368fs*50 Deletion - Frameshift 16:31224418-31224418 + LP2000108-DNA_A01 COSM4408451 c.1302G>A p.A434A Substitution - coding silent 16:31224623-31224623 + ASHPC_0026_Pa_P COSM4962643 c.859+5C>T p.? Unknown 16:31222950-31222950 + TCGA-GN-A26C-01 COSM3509121 c.667G>T p.E223* Substitution - Nonsense 16:31219469-31219469 + BD232T COSM5501552 c.852G>T p.L284L Substitution - coding silent 16:31222938-31222938 + TCGA-DK-A3X1-01 COSM3794819 c.1020C>G p.L340L Substitution - coding silent 16:31224341-31224341 + ESCC-243T COSM3937054 c.1297G>C p.D433H Substitution - Missense 16:31224618-31224618 + OSCC-GB_01060111 COSM4883114 c.329C>T p.S110L Substitution - Missense 16:31215067-31215067 + P143 COSM1737065 c.437G>A p.R146H Substitution - Missense 16:31219141-31219141 + TCGA-BR-8591-01 COSM4060423 c.964G>A p.G322R Substitution - Missense 16:31224285-31224285 + LPJ114 COSM1316597 c.602C>T p.A201V Substitution - Missense 16:31219404-31219404 + TCGA-56-6546-01 COSM703179 c.691G>C p.D231H Substitution - Missense 16:31219493-31219493 + TCGA-EK-A2RB-01 COSM4820101 c.1263C>T p.D421D Substitution - coding silent 16:31224584-31224584 + CSCC-1-T COSM4550774 c.508G>A p.G170R Substitution - Missense 16:31219310-31219310 + HCT8 COSM2917794 c.540G>T p.R180R Substitution - coding silent 16:31219342-31219342 + T3021 COSM4736232 c.926G>A p.R309H Substitution - Missense 16:31224247-31224247 + HCC126T COSM5818844 c.1177G>T p.A393S Substitution - Missense 16:31224498-31224498 + TCGA-39-5037-01 COSM703182 c.387C>G p.L129L Substitution - coding silent 16:31215125-31215125 + Pat_24_A COSM5850802 c.773C>T p.P258L Substitution - Missense 16:31222859-31222859 + TCGA-D1-A0ZO-01 COSM970165 c.778C>T p.R260C Substitution - Missense 16:31222864-31222864 + 587228 COSM1230417 c.1156C>T p.R386C Substitution - Missense 16:31224477-31224477 + 407 COSM4060415 c.496C>T p.R166C Substitution - Missense 16:31219298-31219298 + OSCC-GB_01060111 COSM4883113 c.329C>T p.S110L Substitution - Missense 16:31215067-31215067 + I2L-P10-Tumor-Organoid COSM5363286 c.444G>T p.E148D Substitution - Missense 16:31219148-31219148 + TCGA-AP-A059-01 COSM970163 c.708G>T p.E236D Substitution - Missense 16:31219510-31219510 + XHDG37 COSM4769641 c.486+3G>T p.? Unknown 16:31219193-31219193 + TCGA-FW-A3R5-06 COSM3888439 c.519G>A p.G173G Substitution - coding silent 16:31219321-31219321 + CSCC-62-T COSM4459719 c.1137C>T p.G379G Substitution - coding silent 16:31224458-31224458 + TCGA-AO-A03T-01 COSM435166 c.605G>A p.G202E Substitution - Missense 16:31219407-31219407 + C80 COSM4619720 c.1103G>A p.R368H Substitution - Missense 16:31224424-31224424 + TCGA-FW-A3R5-06 COSM3888444 c.967G>A p.E323K Substitution - Missense 16:31224288-31224288 + LP6005409-DNA_C04 COSM5953611 c.1056C>T p.G352G Substitution - coding silent 16:31224377-31224377 + pfg282T COSM4752103 c.592C>T p.R198W Substitution - Missense 16:31219394-31219394 + T3 COSM5342765 c.741-2A>C p.? Unknown 16:31222825-31222825 + pfg282T COSM4752102 c.592C>T p.R198W Substitution - Missense 16:31219394-31219394 + 8044436 COSM3387400 c.764C>T p.S255F Substitution - Missense 16:31222850-31222850 + CHC433T COSM3667843 c.744G>A p.L248L Substitution - coding silent 16:31222830-31222830 + 2217536 COSM4422072 c.496C>G p.R166G Substitution - Missense 16:31219298-31219298 + TCGA-BR-8284-01 COSM4060421 c.844C>T p.R282W Substitution - Missense 16:31222930-31222930 + TCGA-BR-8284-01 COSM4060422 c.844C>T p.R282W Substitution - Missense 16:31222930-31222930 + TCGA-D1-A0ZO-01 COSM970166 c.778C>T p.R260C Substitution - Missense 16:31222864-31222864 + TCGA-D9-A6EC-06 COSM4405338 c.706G>T p.E236* Substitution - Nonsense 16:31219508-31219508 + C80 COSM4619719 c.1103G>A p.R368H Substitution - Missense 16:31224424-31224424 + 8030340 COSM3387402 c.1074G>T p.A358A Substitution - coding silent 16:31224395-31224395 + 2521244 COSM5887449 c.865G>A p.E289K Substitution - Missense 16:31224186-31224186 + 2217536 COSM4422071 c.496C>G p.R166G Substitution - Missense 16:31219298-31219298 + TCGA-BR-4370-01 COSM1377620 c.894G>A p.A298A Substitution - coding silent 16:31224215-31224215 + 8030340 COSM3387401 c.1074G>T p.A358A Substitution - coding silent 16:31224395-31224395 + XHDG37 COSM4769642 c.486+3G>T p.? Unknown 16:31219193-31219193 + LS411 COSM4646516 c.977G>A p.R326H Substitution - Missense 16:31224298-31224298 + Pat_44_B COSM4550773 c.508G>A p.G170R Substitution - Missense 16:31219310-31219310 + TCGA-G2-A3IE-01 COSM1301918 c.38C>G p.S13C Substitution - Missense 16:31214776-31214776 + TCGA-34-2596-01 COSM703176 c.909G>T p.V303V Substitution - coding silent 16:31224230-31224230 + SWE-37 COSM1179768 c.514G>A p.V172M Substitution - Missense 16:31219316-31219316 + 587316 COSM1230419 c.505C>T p.R169W Substitution - Missense 16:31219307-31219307 + CSCC-56-T COSM4521901 c.1135G>A p.G379S Substitution - Missense 16:31224456-31224456 + YUKAT COSM225041 c.979C>T p.Q327* Substitution - Nonsense 16:31224300-31224300 + SW48 COSM4656207 c.1351C>T p.P451S Substitution - Missense 16:31224672-31224672 + BD232T COSM5501553 c.852G>T p.L284L Substitution - coding silent 16:31222938-31222938 + TCGA-AG-3592-01 COSM3420959 c.975G>A p.P325P Substitution - coding silent 16:31224296-31224296 + Pat_16_B COSM5850800 c.520G>A p.E174K Substitution - Missense 16:31219322-31219322 + Gp5D COSM2917790 c.516delG p.E174fs*39 Deletion - Frameshift 16:31219318-31219318 + DLD1 COSM2917795 c.540G>T p.R180R Substitution - coding silent 16:31219342-31219342 + DLD1 COSM2917794 c.540G>T p.R180R Substitution - coding silent 16:31219342-31219342 + ESO-141 COSM1268581 c.594G>A p.R198R Substitution - coding silent 16:31219396-31219396 + TCGA-AX-A0IU-01 COSM970168 c.885G>A p.P295P Substitution - coding silent 16:31224206-31224206 + T3021 COSM4736231 c.926G>A p.R309H Substitution - Missense 16:31224247-31224247 + GC_370T-GC_370N COSM4773220 c.1258G>T p.G420C Substitution - Missense 16:31224579-31224579 + EOPC-018_tumor COSM2917812 c.813C>T p.D271D Substitution - coding silent 16:31222899-31222899 + SJDES010 COSM4578990 c.252C>T p.G84G Substitution - coding silent 16:31214990-31214990 + HCT8 COSM2917795 c.540G>T p.R180R Substitution - coding silent 16:31219342-31219342 + LUAD-S00488 COSM395017 c.1207C>A p.L403M Substitution - Missense 16:31224528-31224528 + S02351 COSM5695031 c.412C>A p.L138M Substitution - Missense 16:31219116-31219116 + TCGA-BR-8591-01 COSM4060424 c.964G>A p.G322R Substitution - Missense 16:31224285-31224285 + HCT8 COSM2917797 c.541G>T p.V181L Substitution - Missense 16:31219343-31219343 + TCGA-AA-3530-01 COSM291896 c.546C>T p.F182F Substitution - coding silent 16:31219348-31219348 + CHC433T COSM3667842 c.744G>A p.L248L Substitution - coding silent 16:31222830-31222830 + SNU-C4 COSM4652723 c.1332C>T p.R444R Substitution - coding silent 16:31224653-31224653 + TCGA-G4-6628-01 COSM1377620 c.894G>A p.A298A Substitution - coding silent 16:31224215-31224215 + PTC-50C COSM4129021 c.1102C>A p.R368S Substitution - Missense 16:31224423-31224423 + TCGA-GM-A2DH-01 COSM3817870 c.899C>A p.P300Q Substitution - Missense 16:31224220-31224220 + T42 COSM5342767 c.1290C>T p.S430S Substitution - coding silent 16:31224611-31224611 + CSCC-44-T COSM4554774 c.630G>A p.G210G Substitution - coding silent 16:31219432-31219432 + SC_9029 COSM5559179 c.850C>A p.L284M Substitution - Missense 16:31222936-31222936 + HCT15 COSM2917797 c.541G>T p.V181L Substitution - Missense 16:31219343-31219343 + LPJ114 COSM1316598 c.602C>T p.A201V Substitution - Missense 16:31219404-31219404 + CSCC-31-T COSM4553545 c.593G>A p.R198Q Substitution - Missense 16:31219395-31219395 + SC_9029 COSM5559180 c.850C>A p.L284M Substitution - Missense 16:31222936-31222936 + HCT8 COSM2917796 c.541G>T p.V181L Substitution - Missense 16:31219343-31219343 + HCT15 COSM2917794 c.540G>T p.R180R Substitution - coding silent 16:31219342-31219342 + I2L-P10-Tumor-Organoid COSM5363287 c.444G>T p.E148D Substitution - Missense 16:31219148-31219148 + T3724 COSM4736233 c.963C>T p.A321A Substitution - coding silent 16:31224284-31224284 + LUAD-B00416 COSM355400 c.885G>T p.P295P Substitution - coding silent 16:31224206-31224206 + TCGA-CG-5723-01 COSM4060419 c.740+2T>C p.? Unknown 16:31220920-31220920 + TCGA-39-5037-01 COSM703181 c.387C>G p.L129L Substitution - coding silent 16:31215125-31215125 + SC_9099 COSM5563278 c.415C>T p.Q139* Substitution - Nonsense 16:31219119-31219119 + DLD1 COSM2917797 c.541G>T p.V181L Substitution - Missense 16:31219343-31219343 + EOPC-018_tumor COSM2917813 c.813C>T p.D271D Substitution - coding silent 16:31222899-31222899 + TCGA-FW-A3R5-06 COSM3888442 c.718-1G>A p.? Unknown 16:31220895-31220895 + 824_T COSM3957495 c.676C>G p.L226V Substitution - Missense 16:31219478-31219478 + TCGA-AX-A0IU-01 COSM970167 c.885G>A p.P295P Substitution - coding silent 16:31224206-31224206 + TCGA-66-2763-01 COSM703175 c.934G>A p.E312K Substitution - Missense 16:31224255-31224255 + Pat_45_A COSM5850797 c.486+1_486+2delGT p.? Unknown 16:31219191-31219192 + 407 COSM4060416 c.496C>T p.R166C Substitution - Missense 16:31219298-31219298 + Pat_24_A COSM5850801 c.773C>T p.P258L Substitution - Missense 16:31222859-31222859 + ME016T COSM225041 c.979C>T p.Q327* Substitution - Nonsense 16:31224300-31224300 + HCT15 COSM2917795 c.540G>T p.R180R Substitution - coding silent 16:31219342-31219342 + 587228 COSM1230416 c.1156C>T p.R386C Substitution - Missense 16:31224477-31224477 + LUAD-B00416 COSM355401 c.885G>T p.P295P Substitution - coding silent 16:31224206-31224206 + K-562 COSM1679044 c.284T>G p.I95S Substitution - Missense 16:31215022-31215022 + LP6005409-DNA_C04 COSM5953610 c.1056C>T p.G352G Substitution - coding silent 16:31224377-31224377 + Pat_16_A COSM5850800 c.520G>A p.E174K Substitution - Missense 16:31219322-31219322 + CHC433T COSM3667843 c.744G>A p.L248L Substitution - coding silent 16:31222830-31222830 + TCGA-D7-6526-01 COSM4060418 c.721T>C p.Y241H Substitution - Missense 16:31220899-31220899 + SNU-C4 COSM4652724 c.1332C>T p.R444R Substitution - coding silent 16:31224653-31224653 + CSCC-56-T COSM4521900 c.1135G>A p.G379S Substitution - Missense 16:31224456-31224456 + TCGA-FP-7829-01 COSM4060416 c.496C>T p.R166C Substitution - Missense 16:31219298-31219298 + TCGA-AY-6197-01 COSM3690961 c.998C>T p.A333V Substitution - Missense 16:31224319-31224319 + TCGA-27-1832-01 COSM2917823 c.992C>T p.A331V Substitution - Missense 16:31224313-31224313 + SJDES010 COSM4578989 c.252C>T p.G84G Substitution - coding silent 16:31214990-31214990 + GC_370T-GC_370N COSM4773219 c.1258G>T p.G420C Substitution - Missense 16:31224579-31224579 + YUKAT COSM5384796 c.1370G>A p.W457* Substitution - Nonsense 16:31224691-31224691 + 587376 COSM1230420 c.1417G>A p.E473K Substitution - Missense 16:31224738-31224738 + TCGA-FW-A3R5-06 COSM3888441 c.718-1G>A p.? Unknown 16:31220895-31220895 + TARGET-30-PARRLH COSM1288631 c.1097delC p.R368fs*50 Deletion - Frameshift 16:31224418-31224418 + OSCC-GB_00800111 COSM4887905 c.1370G>T p.W457L Substitution - Missense 16:31224691-31224691 + 2521244 COSM5887448 c.865G>A p.E289K Substitution - Missense 16:31224186-31224186 + Pat_16_A COSM5850799 c.520G>A p.E174K Substitution - Missense 16:31219322-31219322 + T42 COSM5342766 c.1290C>T p.S430S Substitution - coding silent 16:31224611-31224611 + GC_313T-GC_313N COSM4774482 c.913T>C p.S305P Substitution - Missense 16:31224234-31224234 + TCGA-D3-A51G-06 COSM3509122 c.679G>A p.E227K Substitution - Missense 16:31219481-31219481 + LS411 COSM4646515 c.977G>A p.R326H Substitution - Missense 16:31224298-31224298 + ESCC_BICR_067T COSM5433395 c.974C>T p.P325L Substitution - Missense 16:31224295-31224295 + CLL164 COSM1290515 c.974C>A p.P325Q Substitution - Missense 16:31224295-31224295 + TCGA-D9-A6EC-06 COSM4405339 c.706G>T p.E236* Substitution - Nonsense 16:31219508-31219508 + 824_T COSM3957494 c.676C>G p.L226V Substitution - Missense 16:31219478-31219478 + PCSI_0162_Pa_P_526 COSM4964274 c.339G>C p.S113S Substitution - coding silent 16:31215077-31215077 + ESO-141 COSM1268580 c.594G>A p.R198R Substitution - coding silent 16:31219396-31219396 + TCGA-EE-A2GI-06 COSM3509127 c.831G>A p.W277* Substitution - Nonsense 16:31222917-31222917 + ESCC-243T COSM3937055 c.1297G>C p.D433H Substitution - Missense 16:31224618-31224618 + TCGA-EE-A3AG-06 COSM3509124 c.753C>T p.I251I Substitution - coding silent 16:31222839-31222839 + Pat_16_B COSM5850799 c.520G>A p.E174K Substitution - Missense 16:31219322-31219322 + DLD1 COSM2917796 c.541G>T p.V181L Substitution - Missense 16:31219343-31219343 + SW48 COSM4656208 c.1351C>T p.P451S Substitution - Missense 16:31224672-31224672 + K-562 COSM1679043 c.284T>G p.I95S Substitution - Missense 16:31215022-31215022 + PCSI_0162_Pa_P_526 COSM4964275 c.339G>C p.S113S Substitution - coding silent 16:31215077-31215077 + PTC-515C COSM5446343 c.891delT p.A298fs*64 Deletion - Frameshift 16:31224212-31224212 + C80 COSM4619721 c.1291G>A p.D431N Substitution - Missense 16:31224612-31224612 + TCGA-FW-A3R5-06 COSM3888443 c.967G>A p.E323K Substitution - Missense 16:31224288-31224288 + TCGA-D3-A51G-06 COSM3509123 c.679G>A p.E227K Substitution - Missense 16:31219481-31219481 + TCGA-HT-8564-01 COSM2917789 c.497G>A p.R166H Substitution - Missense 16:31219299-31219299 + TCGA-FP-7829-01 COSM4060415 c.496C>T p.R166C Substitution - Missense 16:31219298-31219298 + Gp5D COSM2917791 c.516delG p.E174fs*39 Deletion - Frameshift 16:31219318-31219318 + TCGA-GN-A26C-01 COSM3509120 c.667G>T p.E223* Substitution - Nonsense 16:31219469-31219469 + OSCC-GB_00800111 COSM4887906 c.1370G>T p.W457L Substitution - Missense 16:31224691-31224691 + TCGA-CG-5723-01 COSM4060420 c.740+2T>C p.? Unknown 16:31220920-31220920 + TCGA-AO-A03T-01 COSM435167 c.605G>A p.G202E Substitution - Missense 16:31219407-31219407 + TCGA-BR-4370-01 COSM1377621 c.894G>A p.A298A Substitution - coding silent 16:31224215-31224215 + TCGA-34-2596-01 COSM703177 c.909G>T p.V303V Substitution - coding silent 16:31224230-31224230 + 8044436 COSM3387399 c.764C>T p.S255F Substitution - Missense 16:31222850-31222850 + Pat_44_B COSM4550774 c.508G>A p.G170R Substitution - Missense 16:31219310-31219310 + Pat_45_A COSM5850798 c.486+1_486+2delGT p.? Unknown 16:31219191-31219192 + TCGA-EK-A2RB-01 COSM4820102 c.1263C>T p.D421D Substitution - coding silent 16:31224584-31224584 + CLL164 COSM1290514 c.974C>A p.P325Q Substitution - Missense 16:31224295-31224295 + TCGA-AY-6197-01 COSM3690960 c.998C>T p.A333V Substitution - Missense 16:31224319-31224319 + TCGA-D7-6526-01 COSM4060417 c.721T>C p.Y241H Substitution - Missense 16:31220899-31220899 + YUKAT COSM5384795 c.1370G>A p.W457* Substitution - Nonsense 16:31224691-31224691 + ATL085 COSM5706116 c.1202G>A p.R401H Substitution - Missense 16:31224523-31224523 + LUAD-RT-S01702 COSM379096 c.1084A>G p.I362V Substitution - Missense 16:31224405-31224405 + TCGA-AP-A059-01 COSM970164 c.708G>T p.E236D Substitution - Missense 16:31219510-31219510 + 587376 COSM1230421 c.1417G>A p.E473K Substitution - Missense 16:31224738-31224738 + TCGA-66-2763-01 COSM703174 c.934G>A p.E312K Substitution - Missense 16:31224255-31224255 + P143 COSM1737064 c.437G>A p.R146H Substitution - Missense 16:31219141-31219141 + TCGA-G2-A3IE-01 COSM1301919 c.38C>G p.S13C Substitution - Missense 16:31214776-31214776 + SWE-37 COSM1179769 c.514G>A p.V172M Substitution - Missense 16:31219316-31219316 + TCGA-HU-A4GT-01 COSM4060425 c.1371G>A p.W457* Substitution - Nonsense 16:31224692-31224692 + HCT15 COSM2917796 c.541G>T p.V181L Substitution - Missense 16:31219343-31219343 + T3 COSM5342764 c.741-2A>C p.? Unknown 16:31222825-31222825 + CSCC-31-T COSM4553546 c.593G>A p.R198Q Substitution - Missense 16:31219395-31219395 + C80 COSM4619722 c.1291G>A p.D431N Substitution - Missense 16:31224612-31224612 + PTC-50C COSM4129020 c.1102C>A p.R368S Substitution - Missense 16:31224423-31224423 + T3080 COSM4736236 c.985G>A p.D329N Substitution - Missense 16:31224306-31224306 + TCGA-AA-3530-01 COSM291897 c.546C>T p.F182F Substitution - coding silent 16:31219348-31219348 + LUAD-S00488 COSM395018 c.1207C>A p.L403M Substitution - Missense 16:31224528-31224528 + TCGA-AG-3592-01 COSM3420958 c.975G>A p.P325P Substitution - coding silent 16:31224296-31224296 + 442 COSM4434615 c.993G>A p.A331A Substitution - coding silent 16:31224314-31224314 + TCGA-EE-A3AG-06 COSM3509125 c.753C>T p.I251I Substitution - coding silent 16:31222839-31222839 + CSCC-44-T COSM4554775 c.630G>A p.G210G Substitution - coding silent 16:31219432-31219432 + T3724 COSM4736234 c.963C>T p.A321A Substitution - coding silent 16:31224284-31224284 + CHC433T COSM3667842 c.744G>A p.L248L Substitution - coding silent 16:31222830-31222830 + LP2000108-DNA_A01 COSM4408450 c.1302G>A p.A434A Substitution - coding silent 16:31224623-31224623 + GC_313T-GC_313N COSM4774483 c.913T>C p.S305P Substitution - Missense 16:31224234-31224234 + TCGA-HT-8564-01 COSM2917788 c.497G>A p.R166H Substitution - Missense 16:31219299-31219299 + TCGA-EE-A2GI-06 COSM3509126 c.831G>A p.W277* Substitution - Nonsense 16:31222917-31222917 + SC_9099 COSM5563279 c.415C>T p.Q139* Substitution - Nonsense 16:31219119-31219119 + ATL085 COSM5706117 c.1202G>A p.R401H Substitution - Missense 16:31224523-31224523 + YUKAT COSM225042 c.979C>T p.Q327* Substitution - Nonsense 16:31224300-31224300 + TCGA-56-6546-01 COSM703178 c.691G>C p.D231H Substitution - Missense 16:31219493-31219493 + TCGA-FW-A3R5-06 COSM3888440 c.519G>A p.G173G Substitution - coding silent 16:31219321-31219321 + TCGA-HU-A4GT-01 COSM4060426 c.1371G>A p.W457* Substitution - Nonsense 16:31224692-31224692 + ASHPC_0026_Pa_P COSM4962644 c.859+5C>T p.? Unknown 16:31222950-31222950 + TCGA-G4-6628-01 COSM1377621 c.894G>A p.A298A Substitution - coding silent 16:31224215-31224215 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.661858;Hs.661859 16p11.2 613288

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer C A Missense p.P325Q c.974C>A 16 31235616 CLL C A Missense p.R192S c.574C>A 16 31230697 LUAD C A Missense p.R260S c.778C>A 16 31234185 LUAD C - Frameshift p.P257Hfs*28 c.770delC 16 31234173 LUAD C - Frameshift p.R368Afs*50 c.1102delC 16 31235739 NB C G Missense p.S13C c.38C>G 16 31226097 BLCA C G Synonymous p.L129L c.387C>G 16 31226446 LUSC C T Missense p.A331V c.992C>T 16 31235634 GBM C T Missense p.R260C c.778C>T 16 31234185 UCEC C T Nonsense p.Q327* c.979C>T 16 31235621 CM C T Synonymous p.F182F c.546C>T 16 31230669 COREAD G A 3-UTRSNV . c.1431+10G>A 16 31236083 HC G A Missense p.E312K c.934G>A 16 31235576 LUSC G A Missense p.G202E c.605G>A 16 31230728 BRCA G A Nonsense p.W277* c.831G>A 16 31234238 CM G A Synonymous p.A298A c.894G>A 16 31235536 STAD G A Synonymous p.P295P c.885G>A 16 31235527 UCEC G A Synonymous p.R198R c.594G>A 16 31230717 ESCA G C Missense p.A287P c.859G>C 16 31234266 LUAD G C Missense p.D231H c.691G>C 16 31230814 LUSC G C Missense p.E344Q c.1030G>C 16 31235672 CM G - Frameshift p.A171Pfs*42 c.511delG 16 31230629 HNSC G T IntronicSNV . c.740+52G>T 16 31232291 NSCLC G T Missense p.G177C c.529G>T 16 31230652 LUAD G T Nonsense p.E223* c.667G>T 16 31230790 CM G T SpliceAcceptorSNV . c.487-1G>T 16 31230609 LUAD G T Synonymous p.V303V c.909G>T 16 31235551 LUSC T C Missense p.Y241H c.721T>C 16 31232220 STAD