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 17 37369266 37369266 + Missense_Mutation SNP C C T TCGA-UY-A9PF-01A-11D-A38G-08 TCGA-UY-A9PF-10A-01D-A38J-08 g.chr17:37369266C>T c.1113G>A c.(1111-1113)atG>atA p.M371I BLCA 17 37369804 37369804 + Missense_Mutation SNP C C T TCGA-KQ-A41S-01A-12D-A339-08 TCGA-KQ-A41S-10C-01D-A339-08 g.chr17:37369804C>T c.949G>A c.(949-951)Gat>Aat p.D317N BLCA 17 37371225 37371225 + Missense_Mutation SNP C C G TCGA-4Z-AA7W-01A-11D-A391-08 TCGA-4Z-AA7W-10A-01D-A394-08 g.chr17:37371225C>G c.751G>C c.(751-753)Gag>Cag p.E251Q BLCA 17 37371452 37371452 + Missense_Mutation SNP C C G TCGA-XF-A9ST-01A-11D-A42E-08 TCGA-XF-A9ST-10A-01D-A42H-08 g.chr17:37371452C>G c.618G>C c.(616-618)gaG>gaC p.E206D BLCA 17 37374337 37374337 + Silent SNP G G C TCGA-XF-AAMG-01A-11D-A42E-08 TCGA-XF-AAMG-10A-01D-A42H-08 g.chr17:37374337G>C c.180C>G c.(178-180)ctC>ctG p.L60L BLCA 17 37381683 37381683 + Missense_Mutation SNP C C T TCGA-FD-A3SN-01A-12D-A22Z-08 TCGA-FD-A3SN-10A-01D-A22Z-08 g.chr17:37381683C>T c.73G>A c.(73-75)Gcc>Acc p.A25T BRCA 17 37369272 37369272 + Silent SNP A A C TCGA-A8-A09D-01A-11W-A019-09 TCGA-A8-A09D-10A-01W-A021-09 g.chr17:37369272A>C c.1107T>G c.(1105-1107)ggT>ggG p.G369G BRCA 17 37369302 37369302 + Missense_Mutation SNP G G C TCGA-AO-A124-01A-11D-A10M-09 TCGA-AO-A124-10A-01D-A10M-09 g.chr17:37369302G>C c.1077C>G c.(1075-1077)tgC>tgG p.C359W BRCA 17 37371076 37371076 + Missense_Mutation SNP G G T TCGA-D8-A140-01A-11D-A10Y-09 TCGA-D8-A140-10A-01D-A110-09 g.chr17:37371076G>T c.811C>A c.(811-813)Cca>Aca p.P271T BRCA 17 37371458 37371458 + Silent SNP G G T TCGA-A2-A0YE-01A-11D-A10G-09 TCGA-A2-A0YE-10A-01D-A10G-09 g.chr17:37371458G>T c.612C>A c.(610-612)gtC>gtA p.V204V CESC 17 37368565 37368565 + Missense_Mutation SNP C C G TCGA-EK-A2H0-01A-11D-A17W-09 TCGA-EK-A2H0-10A-01D-A17W-09 g.chr17:37368565C>G c.1216G>C c.(1216-1218)Gac>Cac p.D406H CESC 17 37369376 37369376 + Missense_Mutation SNP C C A TCGA-DS-A7WF-01A-11D-A351-09 TCGA-DS-A7WF-10A-01D-A351-09 g.chr17:37369376C>A c.1003G>T c.(1003-1005)Ggc>Tgc p.G335C CESC 17 37370527 37370527 + Silent SNP G G C TCGA-LP-A4AV-01A-11D-A243-09 TCGA-LP-A4AV-10A-01D-A243-09 g.chr17:37370527G>C c.900C>G c.(898-900)ctC>ctG p.L300L CESC 17 37371404 37371404 + Missense_Mutation SNP G G T TCGA-EA-A43B-01A-81D-A243-09 TCGA-EA-A43B-10A-01D-A243-09 g.chr17:37371404G>T c.666C>A c.(664-666)ttC>ttA p.F222L COAD 17 37368557 37368557 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:37368557C>T c.1224G>A c.(1222-1224)ctG>ctA p.L408L COAD 17 37368647 37368647 + Missense_Mutation SNP G G C TCGA-CA-5254-01A-21D-1835-10 TCGA-CA-5254-10A-01D-1835-10 g.chr17:37368647G>C c.1134C>G c.(1132-1134)atC>atG p.I378M COAD 17 37370512 37370512 + Silent SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:37370512G>A c.915C>T c.(913-915)ccC>ccT p.P305P COAD 17 37370564 37370564 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr17:37370564C>T c.863G>A c.(862-864)cGg>cAg p.R288Q COAD 17 37371375 37371375 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:37371375C>T c.695G>A c.(694-696)aGc>aAc p.S232N COAD 17 37371455 37371455 + Silent SNP G G A TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr17:37371455G>A c.615C>T c.(613-615)taC>taT p.Y205Y COAD 17 37374364 37374364 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:37374364G>T c.153C>A c.(151-153)aaC>aaA p.N51K COADREAD 17 37368557 37368557 + Silent SNP C C T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:37368557C>T c.1224G>A c.(1222-1224)ctG>ctA p.L408L COADREAD 17 37368647 37368647 + Missense_Mutation SNP G G C TCGA-CA-5254-01A-21D-1835-10 TCGA-CA-5254-10A-01D-1835-10 g.chr17:37368647G>C c.1134C>G c.(1132-1134)atC>atG p.I378M COADREAD 17 37370512 37370512 + Silent SNP G G A TCGA-A6-6781-01A-22D-1924-10 TCGA-A6-6781-10A-01D-1924-10 g.chr17:37370512G>A c.915C>T c.(913-915)ccC>ccT p.P305P COADREAD 17 37370564 37370564 + Missense_Mutation SNP C C T TCGA-AZ-6601-01A-11D-1771-10 TCGA-AZ-6601-11A-01D-1771-10 g.chr17:37370564C>T c.863G>A c.(862-864)cGg>cAg p.R288Q COADREAD 17 37371375 37371375 + Missense_Mutation SNP C C T TCGA-AA-A010-01A-01W-A00E-09 TCGA-AA-A010-10A-01W-A00E-09 g.chr17:37371375C>T c.695G>A c.(694-696)aGc>aAc p.S232N COADREAD 17 37371455 37371455 + Silent SNP G G A TCGA-CM-6161-01A-11D-1650-10 TCGA-CM-6161-10A-01D-1650-10 g.chr17:37371455G>A c.615C>T c.(613-615)taC>taT p.Y205Y COADREAD 17 37374364 37374364 + Missense_Mutation SNP G G T TCGA-CA-6717-01A-11D-1835-10 TCGA-CA-6717-10A-01D-1835-10 g.chr17:37374364G>T c.153C>A c.(151-153)aaC>aaA p.N51K ESCA 17 37381682 37381682 + Missense_Mutation SNP G G A TCGA-L5-A4OI-01A-11D-A27G-09 TCGA-L5-A4OI-11A-11D-A27G-09 g.chr17:37381682G>A c.74C>T c.(73-75)gCc>gTc p.A25V ESCA 17 37381698 37381698 + Missense_Mutation SNP G G T TCGA-IG-A4P3-01A-11D-A27G-09 TCGA-IG-A4P3-10A-01D-A27G-09 g.chr17:37381698G>T c.58C>A c.(58-60)Cca>Aca p.P20T HNSC 17 37368614 37368614 + Silent SNP G G A TCGA-BA-5151-01A-01D-1434-08 TCGA-BA-5151-10A-01D-1434-08 g.chr17:37368614G>A c.1167C>T c.(1165-1167)gaC>gaT p.D389D HNSC 17 37369370 37369370 + Silent SNP G G T TCGA-CV-5435-01A-01D-1683-08 TCGA-CV-5435-10A-01D-1870-08 g.chr17:37369370G>T c.1009C>A c.(1009-1011)Cgg>Agg p.R337R HNSC 17 37371437 37371437 + Silent SNP G G A TCGA-CV-7103-01A-21D-2012-08 TCGA-CV-7103-10A-01D-2013-08 g.chr17:37371437G>A c.633C>T c.(631-633)ggC>ggT p.G211G KIPAN 17 37368584 37368584 + Silent SNP C C T TCGA-G7-6790-01A-11D-1961-08 TCGA-G7-6790-10A-01D-1962-08 g.chr17:37368584C>T c.1197G>A c.(1195-1197)aaG>aaA p.K399K KIPAN 17 37369246 37369246 + Splice_Site SNP A A C TCGA-B0-5812-01A-11D-1669-08 TCGA-B0-5812-11A-01D-1669-08 g.chr17:37369246A>C c.e10+1 KIPAN 17 37373422 37373422 + Silent SNP G G A TCGA-HE-A5NJ-01A-11D-A26P-10 TCGA-HE-A5NJ-10A-01D-A26P-10 g.chr17:37373422G>A c.402C>T c.(400-402)aaC>aaT p.N134N KIRC 17 37369246 37369246 + Splice_Site SNP A A C TCGA-B0-5812-01A-11D-1669-08 TCGA-B0-5812-11A-01D-1669-08 g.chr17:37369246A>C c.e10+1 KIRP 17 37368584 37368584 + Silent SNP C C T TCGA-G7-6790-01A-11D-1961-08 TCGA-G7-6790-10A-01D-1962-08 g.chr17:37368584C>T c.1197G>A c.(1195-1197)aaG>aaA p.K399K KIRP 17 37373422 37373422 + Silent SNP G G A TCGA-HE-A5NJ-01A-11D-A26P-10 TCGA-HE-A5NJ-10A-01D-A26P-10 g.chr17:37373422G>A c.402C>T c.(400-402)aaC>aaT p.N134N LIHC 17 37371219 37371219 + Missense_Mutation SNP C C A TCGA-LG-A6GG-01A-11D-A30V-10 TCGA-LG-A6GG-10A-01D-A30V-10 g.chr17:37371219C>A c.757G>T c.(757-759)Ggg>Tgg p.G253W LUAD 17 37369269 37369269 + Silent SNP G G A TCGA-69-8255-01A-11D-2284-08 TCGA-69-8255-10A-01D-2284-08 g.chr17:37369269G>A c.1110C>T c.(1108-1110)taC>taT p.Y370Y LUAD 17 37369772 37369772 + Missense_Mutation SNP C C G TCGA-NJ-A4YP-01A-11D-A25L-08 TCGA-NJ-A4YP-10A-01D-A25L-08 g.chr17:37369772C>G c.981G>C c.(979-981)gaG>gaC p.E327D LUAD 17 37371051 37371051 + Missense_Mutation SNP C C A TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr17:37371051C>A c.836G>T c.(835-837)gGa>gTa p.G279V LUSC 17 37369250 37369250 + Missense_Mutation SNP G G T TCGA-33-4566-01A-01D-1441-08 TCGA-33-4566-11A-01D-1441-08 g.chr17:37369250G>T c.1129C>A c.(1129-1131)Cag>Aag p.Q377K LUSC 17 37370535 37370535 + Missense_Mutation SNP C C G TCGA-33-4582-01A-01D-1441-08 TCGA-33-4582-11A-01D-1441-08 g.chr17:37370535C>G c.892G>C c.(892-894)Gtt>Ctt p.V298L LUSC 17 37373068 37373068 + Missense_Mutation SNP G G T TCGA-60-2698-01A-01D-1522-08 TCGA-60-2698-11A-01D-1522-08 g.chr17:37373068G>T c.581C>A c.(580-582)cCc>cAc p.P194H PAAD 17 37371375 37371375 + Missense_Mutation SNP C C T TCGA-IB-7651-01A-11D-2154-08 TCGA-IB-7651-10A-01D-2154-08 g.chr17:37371375C>T c.695G>A c.(694-696)aGc>aAc p.S232N PRAD 17 37369333 37369333 + Missense_Mutation SNP A A T TCGA-HC-8257-01A-11D-2260-08 TCGA-HC-8257-10A-01D-2260-08 g.chr17:37369333A>T c.1046T>A c.(1045-1047)gTg>gAg p.V349E PRAD 17 37369385 37369385 + Splice_Site SNP C C A TCGA-G9-7522-01A-11D-2260-08 TCGA-G9-7522-10A-01D-2260-08 g.chr17:37369385C>A c.994G>T c.(994-996)Ggc>Tgc p.G332C SARC 17 37374401 37374401 + Missense_Mutation SNP G G A TCGA-DX-A8BP-01A-11D-A37C-09 TCGA-DX-A8BP-10A-01D-A37F-09 g.chr17:37374401G>A c.116C>T c.(115-117)tCc>tTc p.S39F SKCM 17 37369809 37369809 + Missense_Mutation SNP G G A TCGA-EE-A2GC-06A-11D-A197-08 TCGA-EE-A2GC-10A-01D-A199-08 g.chr17:37369809G>A c.944C>T c.(943-945)cCt>cTt p.P315L SKCM 17 37371248 37371248 + Missense_Mutation SNP C C T TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr17:37371248C>T c.728G>A c.(727-729)gGg>gAg p.G243E SKCM 17 37371268 37371268 + Silent SNP C C T TCGA-DA-A1IC-06A-11D-A197-08 TCGA-DA-A1IC-10A-01D-A199-08 g.chr17:37371268C>T c.708G>A c.(706-708)cgG>cgA p.R236R SKCM 17 37373332 37373332 + Missense_Mutation SNP C C G TCGA-EE-A3JD-06A-11D-A20D-08 TCGA-EE-A3JD-10A-01D-A20D-08 g.chr17:37373332C>G c.492G>C c.(490-492)aaG>aaC p.K164N SKCM 17 37374290 37374290 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:37374290G>A c.227C>T c.(226-228)cCt>cTt p.P76L SKCM 17 37381674 37381674 + Missense_Mutation SNP C C T TCGA-FR-A44A-06A-11D-A24R-08 TCGA-FR-A44A-10A-01D-A24R-08 g.chr17:37381674C>T c.82G>A c.(82-84)Gaa>Aaa p.E28K

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 17 37381683 37381683 single base substitution C T exon_variant BLCA-US 17 37381683 37381683 single base substitution C T missense_variant A25T 73G>A BOCA-FR 17 37376001 37376001 single base substitution G C intron_variant BRCA-EU 17 37361866 37361866 single base substitution C T downstream_gene_variant BRCA-EU 17 37362087 37362087 single base substitution G A downstream_gene_variant BRCA-EU 17 37362265 37362265 single base substitution A G downstream_gene_variant BRCA-EU 17 37362269 37362269 single base substitution G A downstream_gene_variant BRCA-EU 17 37362850 37362850 single base substitution A T downstream_gene_variant BRCA-EU 17 37363047 37363047 single base substitution C T downstream_gene_variant BRCA-EU 17 37363830 37363830 single base substitution C G downstream_gene_variant BRCA-EU 17 37365014 37365014 single base substitution A G downstream_gene_variant BRCA-EU 17 37365037 37365037 single base substitution C T downstream_gene_variant BRCA-EU 17 37365044 37365044 insertion of <=200bp - G downstream_gene_variant BRCA-EU 17 37367655 37367655 single base substitution A G 3_prime_UTR_variant BRCA-EU 17 37368106 37368106 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 17 37368342 37368342 single base substitution G C 3_prime_UTR_variant BRCA-EU 17 37368603 37368603 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 37368603 37368603 single base substitution C G missense_variant R393P 1178G>C BRCA-EU 17 37370527 37370527 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 37370527 37370527 single base substitution G A synonymous_variant L300L 900C>T BRCA-EU 17 37370950 37370950 single base substitution C T intron_variant BRCA-EU 17 37371203 37371203 single base substitution C T splice_donor_variant BRCA-EU 17 37371264 37371264 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 37371264 37371264 single base substitution C T missense_variant E238K 712G>A BRCA-EU 17 37371269 37371269 single base substitution C T 3_prime_UTR_variant BRCA-EU 17 37371269 37371269 single base substitution C T missense_variant R236Q 707G>A BRCA-EU 17 37371869 37371869 single base substitution G T intron_variant BRCA-EU 17 37371975 37371975 single base substitution G A intron_variant BRCA-EU 17 37372122 37372122 deletion of <=200bp T - intron_variant BRCA-EU 17 37372366 37372366 single base substitution C A intron_variant BRCA-EU 17 37372815 37372815 single base substitution T A intron_variant BRCA-EU 17 37372816 37372816 single base substitution C T intron_variant BRCA-EU 17 37372934 37372934 single base substitution C A intron_variant BRCA-EU 17 37373566 37373566 single base substitution C A intron_variant BRCA-EU 17 37373590 37373590 single base substitution C A intron_variant BRCA-EU 17 37373645 37373645 single base substitution C A intron_variant BRCA-EU 17 37373649 37373649 single base substitution C G intron_variant BRCA-EU 17 37373902 37373902 single base substitution G A intron_variant BRCA-EU 17 37374492 37374492 single base substitution C T intron_variant BRCA-EU 17 37374885 37374885 deletion of <=200bp T - intron_variant BRCA-EU 17 37375507 37375507 single base substitution G C intron_variant BRCA-EU 17 37375568 37375568 single base substitution A G intron_variant BRCA-EU 17 37375739 37375739 single base substitution C A intron_variant BRCA-EU 17 37375915 37375915 single base substitution C T intron_variant BRCA-EU 17 37376207 37376207 single base substitution G C intron_variant BRCA-EU 17 37376232 37376232 single base substitution G A intron_variant BRCA-EU 17 37378084 37378084 single base substitution C A intron_variant BRCA-EU 17 37378322 37378322 single base substitution C A intron_variant BRCA-EU 17 37379046 37379046 insertion of <=200bp - C intron_variant BRCA-EU 17 37379321 37379321 single base substitution G A intron_variant BRCA-EU 17 37380098 37380098 single base substitution C G intron_variant BRCA-EU 17 37383175 37383175 single base substitution T C upstream_gene_variant BRCA-EU 17 37383320 37383320 single base substitution T G upstream_gene_variant BRCA-EU 17 37384576 37384576 deletion of <=200bp G - upstream_gene_variant BRCA-EU 17 37385053 37385053 single base substitution G T upstream_gene_variant BRCA-EU 17 37385616 37385616 single base substitution G T upstream_gene_variant BRCA-EU 17 37386219 37386219 single base substitution C T upstream_gene_variant BRCA-EU 17 37387027 37387027 single base substitution C G upstream_gene_variant BRCA-FR 17 37365037 37365037 single base substitution C T downstream_gene_variant BRCA-FR 17 37368342 37368342 single base substitution G C 3_prime_UTR_variant BRCA-FR 17 37373645 37373645 single base substitution C A intron_variant BRCA-FR 17 37373902 37373902 single base substitution G A intron_variant BRCA-FR 17 37375507 37375507 single base substitution G C intron_variant BRCA-FR 17 37376232 37376232 single base substitution G A intron_variant BRCA-FR 17 37379321 37379321 single base substitution G A intron_variant BRCA-FR 17 37380098 37380098 single base substitution C G intron_variant BRCA-UK 17 37371264 37371264 single base substitution C T 3_prime_UTR_variant BRCA-UK 17 37371264 37371264 single base substitution C T missense_variant E238K 712G>A BRCA-UK 17 37372419 37372419 single base substitution G A intron_variant BRCA-UK 17 37372815 37372815 single base substitution T A intron_variant BRCA-UK 17 37372816 37372816 single base substitution C T intron_variant BRCA-UK 17 37373895 37373895 single base substitution G A intron_variant BRCA-UK 17 37373896 37373896 single base substitution A G intron_variant BRCA-UK 17 37375739 37375739 single base substitution C A intron_variant BRCA-UK 17 37375915 37375915 single base substitution C T intron_variant BRCA-UK 17 37378322 37378322 single base substitution C A intron_variant BRCA-UK 17 37387027 37387027 single base substitution C G upstream_gene_variant BRCA-US 17 37369272 37369272 single base substitution A C 3_prime_UTR_variant BRCA-US 17 37369272 37369272 single base substitution A C synonymous_variant G369G 1107T>G BRCA-US 17 37369302 37369302 single base substitution G C 3_prime_UTR_variant BRCA-US 17 37369302 37369302 single base substitution G C missense_variant C359W 1077C>G BRCA-US 17 37371076 37371076 single base substitution G T 3_prime_UTR_variant BRCA-US 17 37371076 37371076 single base substitution G T missense_variant P271T 811C>A BRCA-US 17 37371458 37371458 single base substitution G T exon_variant BRCA-US 17 37371458 37371458 single base substitution G T synonymous_variant V204V 612C>A BTCA-JP 17 37369246 37369246 single base substitution A G splice_donor_variant BTCA-JP 17 37369416 37369416 single base substitution G A intron_variant BTCA-JP 17 37370510 37370510 single base substitution T A 3_prime_UTR_variant BTCA-JP 17 37370510 37370510 single base substitution T A missense_variant Q306L 917A>T BTCA-JP 17 37373227 37373227 single base substitution G T intron_variant BTCA-JP 17 37373524 37373524 single base substitution C T intron_variant BTCA-JP 17 37381819 37381819 single base substitution C T 5_prime_UTR_variant CESC-US 17 37368565 37368565 single base substitution C G 3_prime_UTR_variant CESC-US 17 37368565 37368565 single base substitution C G missense_variant D406H 1216G>C CESC-US 17 37369376 37369376 single base substitution C A 3_prime_UTR_variant CESC-US 17 37369376 37369376 single base substitution C A missense_variant G335C 1003G>T CESC-US 17 37370527 37370527 single base substitution G C 3_prime_UTR_variant CESC-US 17 37370527 37370527 single base substitution G C synonymous_variant L300L 900C>G CESC-US 17 37371404 37371404 single base substitution G T 3_prime_UTR_variant CESC-US 17 37371404 37371404 single base substitution G T missense_variant F222L 666C>A COAD-US 17 37368557 37368557 single base substitution C T 3_prime_UTR_variant COAD-US 17 37368557 37368557 single base substitution C T synonymous_variant L408L 1224G>A COAD-US 17 37368575 37368575 single base substitution C T 3_prime_UTR_variant COAD-US 17 37368575 37368575 single base substitution C T synonymous_variant L402L 1206G>A COAD-US 17 37370512 37370512 single base substitution G A 3_prime_UTR_variant COAD-US 17 37370512 37370512 single base substitution G A synonymous_variant P305P 915C>T COAD-US 17 37370564 37370564 single base substitution C T 3_prime_UTR_variant COAD-US 17 37370564 37370564 single base substitution C T missense_variant R288Q 863G>A COAD-US 17 37371455 37371455 single base substitution G A exon_variant COAD-US 17 37371455 37371455 single base substitution G A synonymous_variant Y205Y 615C>T COAD-US 17 37374364 37374364 single base substitution G T exon_variant COAD-US 17 37374364 37374364 single base substitution G T missense_variant N51K 153C>A COCA-CN 17 37368601 37368601 single base substitution C T 3_prime_UTR_variant COCA-CN 17 37368601 37368601 single base substitution C T missense_variant V394I 1180G>A ESAD-UK 17 37364265 37364265 single base substitution A G downstream_gene_variant ESAD-UK 17 37365722 37365722 single base substitution A T downstream_gene_variant ESAD-UK 17 37367728 37367728 single base substitution G A 3_prime_UTR_variant ESAD-UK 17 37369133 37369133 single base substitution T C intron_variant ESAD-UK 17 37371269 37371269 single base substitution C T 3_prime_UTR_variant ESAD-UK 17 37371269 37371269 single base substitution C T missense_variant R236Q 707G>A ESAD-UK 17 37371729 37371729 single base substitution C T intron_variant ESAD-UK 17 37371980 37371980 single base substitution G A intron_variant ESAD-UK 17 37372739 37372739 single base substitution G C intron_variant ESAD-UK 17 37374489 37374489 single base substitution C A intron_variant ESAD-UK 17 37374846 37374846 single base substitution T A intron_variant ESAD-UK 17 37376976 37376976 single base substitution C T intron_variant ESAD-UK 17 37379232 37379232 single base substitution G A intron_variant ESAD-UK 17 37381511 37381511 single base substitution C T intron_variant ESAD-UK 17 37384868 37384868 single base substitution T A upstream_gene_variant ESAD-UK 17 37384869 37384869 single base substitution A T upstream_gene_variant ESAD-UK 17 37386744 37386744 single base substitution G A upstream_gene_variant ESCA-CN 17 37381794 37381794 single base substitution C T 5_prime_UTR_variant KIRC-US 17 37369246 37369246 single base substitution A C splice_donor_variant KIRC-US 17 37369807 37369807 single base substitution C T 3_prime_UTR_variant KIRC-US 17 37369807 37369807 single base substitution C T missense_variant G316R 946G>A KIRC-US 17 37374147 37374147 single base substitution A G intron_variant KIRC-US 17 37374147 37374147 single base substitution A G missense_variant C124R 370T>C KIRP-US 17 37368584 37368584 single base substitution C T 3_prime_UTR_variant KIRP-US 17 37368584 37368584 single base substitution C T synonymous_variant K399K 1197G>A KIRP-US 17 37373422 37373422 single base substitution G A exon_variant KIRP-US 17 37373422 37373422 single base substitution G A synonymous_variant N134N 402C>T LAML-KR 17 37376991 37376991 single base substitution T C intron_variant LICA-FR 17 37377292 37377292 single base substitution G A intron_variant LICA-FR 17 37379856 37379856 single base substitution T A intron_variant LICA-FR 17 37381680 37381680 single base substitution G T exon_variant LICA-FR 17 37381680 37381680 single base substitution G T missense_variant L26I 76C>A LICA-FR 17 37384408 37384408 single base substitution A G upstream_gene_variant LIHC-US 17 37371219 37371219 single base substitution C A 3_prime_UTR_variant LIHC-US 17 37371219 37371219 single base substitution C A missense_variant G253W 757G>T LINC-JP 17 37374290 37374290 single base substitution G T intron_variant LINC-JP 17 37374290 37374290 single base substitution G T missense_variant P76H 227C>A LINC-JP 17 37374963 37374963 single base substitution C A intron_variant LINC-JP 17 37375006 37375006 deletion of <=200bp A - intron_variant LINC-JP 17 37377882 37377882 single base substitution T G intron_variant LINC-JP 17 37383302 37383302 single base substitution G T upstream_gene_variant LIRI-JP 17 37363140 37363140 single base substitution G T downstream_gene_variant LIRI-JP 17 37365376 37365376 single base substitution G T downstream_gene_variant LIRI-JP 17 37367194 37367194 single base substitution T A 3_prime_UTR_variant LIRI-JP 17 37367194 37367194 single base substitution T A downstream_gene_variant LIRI-JP 17 37368663 37368663 single base substitution A T intron_variant LIRI-JP 17 37368794 37368794 single base substitution A G intron_variant LIRI-JP 17 37369362 37369362 single base substitution G A 3_prime_UTR_variant LIRI-JP 17 37369362 37369362 single base substitution G A synonymous_variant G339G 1017C>T LIRI-JP 17 37371578 37371578 single base substitution C T intron_variant LIRI-JP 17 37371978 37371978 single base substitution A G intron_variant LIRI-JP 17 37372355 37372355 single base substitution C A intron_variant LIRI-JP 17 37372560 37372560 single base substitution C A intron_variant LIRI-JP 17 37384997 37384997 single base substitution C T upstream_gene_variant LIRI-JP 17 37386161 37386169 deletion of <=200bp AGTTTGAAA - upstream_gene_variant LUSC-KR 17 37363112 37363112 single base substitution C A downstream_gene_variant LUSC-KR 17 37363649 37363649 single base substitution C T downstream_gene_variant LUSC-KR 17 37368156 37368156 single base substitution G T 3_prime_UTR_variant LUSC-KR 17 37369416 37369416 single base substitution G A intron_variant LUSC-KR 17 37369669 37369669 single base substitution C A intron_variant LUSC-KR 17 37371519 37371519 single base substitution T C intron_variant LUSC-KR 17 37373050 37373050 single base substitution G T intron_variant LUSC-KR 17 37375024 37375024 single base substitution G T intron_variant LUSC-KR 17 37377452 37377452 single base substitution G C intron_variant LUSC-KR 17 37380411 37380411 single base substitution C A intron_variant LUSC-KR 17 37383937 37383937 single base substitution C A upstream_gene_variant LUSC-KR 17 37383983 37383983 single base substitution T A upstream_gene_variant LUSC-US 17 37369250 37369250 single base substitution G T missense_variant Q377K 1129C>A LUSC-US 17 37369250 37369250 single base substitution G T splice_region_variant LUSC-US 17 37370535 37370535 single base substitution C G 3_prime_UTR_variant LUSC-US 17 37370535 37370535 single base substitution C G missense_variant V298L 892G>C LUSC-US 17 37373068 37373068 single base substitution G T exon_variant LUSC-US 17 37373068 37373068 single base substitution G T missense_variant P194H 581C>A MALY-DE 17 37362274 37362274 single base substitution A G downstream_gene_variant MALY-DE 17 37364126 37364126 single base substitution G A downstream_gene_variant MALY-DE 17 37364265 37364265 deletion of <=200bp A - downstream_gene_variant MALY-DE 17 37374517 37374519 deletion of <=200bp GCA - intron_variant MALY-DE 17 37375017 37375017 single base substitution T A intron_variant MALY-DE 17 37381612 37381612 single base substitution G A intron_variant MALY-DE 17 37384149 37384149 single base substitution C T upstream_gene_variant MELA-AU 17 37362098 37362098 single base substitution C T downstream_gene_variant MELA-AU 17 37362738 37362738 single base substitution C T downstream_gene_variant MELA-AU 17 37362893 37362893 single base substitution T C downstream_gene_variant MELA-AU 17 37363053 37363053 single base substitution G A downstream_gene_variant MELA-AU 17 37363346 37363346 single base substitution C T downstream_gene_variant MELA-AU 17 37363383 37363383 single base substitution C T downstream_gene_variant MELA-AU 17 37363656 37363656 single base substitution G A downstream_gene_variant MELA-AU 17 37363713 37363713 single base substitution G A downstream_gene_variant MELA-AU 17 37364081 37364081 single base substitution G A downstream_gene_variant MELA-AU 17 37364385 37364385 single base substitution C T downstream_gene_variant MELA-AU 17 37364698 37364698 single base substitution G A downstream_gene_variant MELA-AU 17 37365506 37365507 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 17 37365740 37365740 single base substitution C T downstream_gene_variant MELA-AU 17 37365855 37365855 single base substitution G A downstream_gene_variant MELA-AU 17 37365908 37365908 single base substitution C T downstream_gene_variant MELA-AU 17 37366282 37366282 single base substitution C T downstream_gene_variant MELA-AU 17 37366469 37366469 single base substitution C T downstream_gene_variant MELA-AU 17 37366697 37366697 single base substitution C T downstream_gene_variant MELA-AU 17 37367017 37367017 single base substitution G A 3_prime_UTR_variant MELA-AU 17 37367017 37367017 single base substitution G A downstream_gene_variant MELA-AU 17 37367472 37367473 multiple base substitution (>=2bp and <=200bp) GG AT 3_prime_UTR_variant MELA-AU 17 37367472 37367473 multiple base substitution (>=2bp and <=200bp) GG AT downstream_gene_variant MELA-AU 17 37367473 37367473 single base substitution G A 3_prime_UTR_variant MELA-AU 17 37367473 37367473 single base substitution G A downstream_gene_variant MELA-AU 17 37367907 37367907 single base substitution C T 3_prime_UTR_variant MELA-AU 17 37368080 37368080 single base substitution C T 3_prime_UTR_variant MELA-AU 17 37368101 37368101 single base substitution G A 3_prime_UTR_variant MELA-AU 17 37368112 37368112 single base substitution G A 3_prime_UTR_variant MELA-AU 17 37368479 37368479 single base substitution C T 3_prime_UTR_variant MELA-AU 17 37368542 37368542 single base substitution C T 3_prime_UTR_variant MELA-AU 17 37368780 37368780 single base substitution G C intron_variant MELA-AU 17 37368806 37368806 single base substitution G A intron_variant MELA-AU 17 37368909 37368909 single base substitution C T intron_variant MELA-AU 17 37369077 37369077 single base substitution C T intron_variant MELA-AU 17 37369670 37369670 single base substitution C T intron_variant MELA-AU 17 37369707 37369707 single base substitution G A intron_variant MELA-AU 17 37369993 37369993 single base substitution G A intron_variant MELA-AU 17 37370017 37370017 single base substitution C T intron_variant MELA-AU 17 37370150 37370150 single base substitution G A intron_variant MELA-AU 17 37370360 37370360 single base substitution C T intron_variant MELA-AU 17 37370404 37370404 single base substitution C T intron_variant MELA-AU 17 37370890 37370890 single base substitution C T intron_variant MELA-AU 17 37370914 37370914 single base substitution C T intron_variant MELA-AU 17 37371203 37371203 single base substitution C T splice_donor_variant MELA-AU 17 37371341 37371341 single base substitution C T intron_variant MELA-AU 17 37371377 37371377 single base substitution C T 3_prime_UTR_variant MELA-AU 17 37371377 37371377 single base substitution C T synonymous_variant R231R 693G>A MELA-AU 17 37371431 37371431 single base substitution G A exon_variant MELA-AU 17 37371431 37371431 single base substitution G A synonymous_variant S213S 639C>T MELA-AU 17 37371432 37371432 single base substitution G A exon_variant MELA-AU 17 37371432 37371432 single base substitution G A missense_variant S213F 638C>T MELA-AU 17 37371570 37371570 single base substitution C T intron_variant MELA-AU 17 37371850 37371850 single base substitution T C intron_variant MELA-AU 17 37372163 37372163 single base substitution T C intron_variant MELA-AU 17 37372289 37372289 single base substitution C T intron_variant MELA-AU 17 37372480 37372480 single base substitution C T intron_variant MELA-AU 17 37372566 37372566 single base substitution C T intron_variant MELA-AU 17 37372775 37372775 single base substitution C T intron_variant MELA-AU 17 37372799 37372799 single base substitution G A intron_variant MELA-AU 17 37373020 37373020 single base substitution C T intron_variant MELA-AU 17 37373053 37373053 single base substitution G A intron_variant MELA-AU 17 37373146 37373146 single base substitution G A exon_variant MELA-AU 17 37373146 37373146 single base substitution G A missense_variant S168F 503C>T MELA-AU 17 37373501 37373501 single base substitution G A intron_variant MELA-AU 17 37373503 37373503 single base substitution G A intron_variant MELA-AU 17 37373578 37373578 single base substitution G A intron_variant MELA-AU 17 37373621 37373621 single base substitution G A intron_variant MELA-AU 17 37373649 37373649 single base substitution C T intron_variant MELA-AU 17 37373667 37373667 single base substitution C T intron_variant MELA-AU 17 37373906 37373906 single base substitution G A intron_variant MELA-AU 17 37373995 37373995 single base substitution G A intron_variant MELA-AU 17 37374090 37374090 single base substitution C T intron_variant MELA-AU 17 37374836 37374837 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 17 37374892 37374892 single base substitution C T intron_variant MELA-AU 17 37375077 37375077 single base substitution G A intron_variant MELA-AU 17 37375236 37375236 single base substitution C T intron_variant MELA-AU 17 37375285 37375285 single base substitution G A intron_variant MELA-AU 17 37375306 37375306 single base substitution T A intron_variant MELA-AU 17 37375411 37375411 single base substitution C T intron_variant MELA-AU 17 37375459 37375459 single base substitution C T intron_variant MELA-AU 17 37375821 37375821 single base substitution C T intron_variant MELA-AU 17 37376007 37376007 single base substitution G A intron_variant MELA-AU 17 37376102 37376102 single base substitution C A intron_variant MELA-AU 17 37377300 37377300 single base substitution C T intron_variant MELA-AU 17 37377483 37377483 single base substitution G A intron_variant MELA-AU 17 37378098 37378098 single base substitution G A intron_variant MELA-AU 17 37378308 37378308 single base substitution G A intron_variant MELA-AU 17 37378364 37378364 single base substitution C T intron_variant MELA-AU 17 37378632 37378632 single base substitution C T intron_variant MELA-AU 17 37379240 37379240 single base substitution C T intron_variant MELA-AU 17 37379484 37379484 single base substitution C T intron_variant MELA-AU 17 37379723 37379723 single base substitution G A intron_variant MELA-AU 17 37380357 37380357 single base substitution C T intron_variant MELA-AU 17 37380457 37380457 single base substitution G A intron_variant MELA-AU 17 37380853 37380853 single base substitution C T intron_variant MELA-AU 17 37381647 37381647 single base substitution C T intron_variant MELA-AU 17 37381656 37381656 single base substitution C T intron_variant MELA-AU 17 37381780 37381780 single base substitution G A 5_prime_UTR_variant MELA-AU 17 37382322 37382322 single base substitution G A upstream_gene_variant MELA-AU 17 37382839 37382839 single base substitution G A upstream_gene_variant MELA-AU 17 37382980 37382980 single base substitution A C upstream_gene_variant MELA-AU 17 37383113 37383113 single base substitution G T upstream_gene_variant MELA-AU 17 37383148 37383148 single base substitution A G upstream_gene_variant MELA-AU 17 37383185 37383185 single base substitution C G upstream_gene_variant MELA-AU 17 37383410 37383410 single base substitution A C upstream_gene_variant MELA-AU 17 37383636 37383636 single base substitution C G upstream_gene_variant MELA-AU 17 37383643 37383643 single base substitution C T upstream_gene_variant MELA-AU 17 37383824 37383824 single base substitution G A upstream_gene_variant MELA-AU 17 37384357 37384357 single base substitution G A upstream_gene_variant MELA-AU 17 37384492 37384492 single base substitution G A upstream_gene_variant MELA-AU 17 37384534 37384534 single base substitution C T upstream_gene_variant MELA-AU 17 37384856 37384856 single base substitution G A upstream_gene_variant MELA-AU 17 37385386 37385386 single base substitution C T upstream_gene_variant MELA-AU 17 37385523 37385523 single base substitution C T upstream_gene_variant MELA-AU 17 37385563 37385563 single base substitution G A upstream_gene_variant MELA-AU 17 37385848 37385848 single base substitution G A upstream_gene_variant MELA-AU 17 37385940 37385940 single base substitution G A upstream_gene_variant MELA-AU 17 37386409 37386409 single base substitution G C upstream_gene_variant MELA-AU 17 37386558 37386558 single base substitution T A upstream_gene_variant MELA-AU 17 37386918 37386918 single base substitution G A upstream_gene_variant ORCA-IN 17 37369260 37369260 single base substitution G C 3_prime_UTR_variant ORCA-IN 17 37369260 37369260 single base substitution G C synonymous_variant L373L 1119C>G ORCA-IN 17 37373336 37373336 single base substitution C A exon_variant ORCA-IN 17 37373336 37373336 single base substitution C A missense_variant G163V 488G>T OV-AU 17 37362591 37362591 single base substitution T G downstream_gene_variant OV-AU 17 37366211 37366211 single base substitution C T downstream_gene_variant OV-AU 17 37370343 37370343 single base substitution T A intron_variant OV-AU 17 37373224 37373224 single base substitution C T intron_variant OV-AU 17 37373319 37373319 single base substitution C T intron_variant OV-AU 17 37373481 37373481 single base substitution G C intron_variant PACA-AU 17 37365063 37365063 single base substitution T A downstream_gene_variant PACA-AU 17 37368791 37368791 single base substitution G T intron_variant PACA-AU 17 37370703 37370703 single base substitution C T intron_variant PACA-AU 17 37372042 37372042 single base substitution C T intron_variant PACA-AU 17 37373141 37373141 single base substitution G A exon_variant PACA-AU 17 37373141 37373141 single base substitution G A missense_variant R170C 508C>T PACA-AU 17 37375175 37375175 single base substitution G T intron_variant PACA-AU 17 37376253 37376264 deletion of <=200bp CAGAGGGGGAAG - intron_variant PACA-AU 17 37378208 37378208 single base substitution G A intron_variant PACA-AU 17 37383273 37383273 single base substitution T C upstream_gene_variant PACA-CA 17 37368562 37368562 single base substitution C T 3_prime_UTR_variant PACA-CA 17 37368562 37368562 single base substitution C T missense_variant A407T 1219G>A PACA-CA 17 37371577 37371577 deletion of <=200bp C - intron_variant PACA-CA 17 37373330 37373330 single base substitution G A missense_variant T165M 494C>T PACA-CA 17 37373330 37373330 single base substitution G A splice_region_variant PACA-CA 17 37375829 37375829 single base substitution A T intron_variant PACA-CA 17 37379281 37379281 single base substitution A G intron_variant PACA-CA 17 37381585 37381585 single base substitution G T intron_variant PACA-CA 17 37382728 37382728 single base substitution C T upstream_gene_variant PACA-CA 17 37386754 37386754 single base substitution C T upstream_gene_variant PAEN-AU 17 37377543 37377543 single base substitution G A intron_variant PAEN-AU 17 37385134 37385134 single base substitution G A upstream_gene_variant PBCA-DE 17 37371037 37371037 single base substitution G A splice_region_variant PBCA-DE 17 37374158 37374158 single base substitution C G intron_variant PBCA-DE 17 37374158 37374158 single base substitution C G missense_variant R120P 359G>C PRAD-CA 17 37364885 37364885 single base substitution C A downstream_gene_variant PRAD-UK 17 37367548 37367548 insertion of <=200bp - C 3_prime_UTR_variant PRAD-UK 17 37373597 37373597 single base substitution G A intron_variant PRAD-US 17 37369333 37369333 single base substitution A T 3_prime_UTR_variant PRAD-US 17 37369333 37369333 single base substitution A T missense_variant V349E 1046T>A PRAD-US 17 37369385 37369385 single base substitution C A missense_variant G332C 994G>T PRAD-US 17 37369385 37369385 single base substitution C A splice_region_variant RECA-EU 17 37362281 37362281 single base substitution A G downstream_gene_variant RECA-EU 17 37374000 37374000 single base substitution A G intron_variant RECA-EU 17 37383270 37383270 single base substitution T C upstream_gene_variant SKCA-BR 17 37364034 37364034 single base substitution T G downstream_gene_variant SKCA-BR 17 37367528 37367528 single base substitution C T 3_prime_UTR_variant SKCA-BR 17 37368016 37368016 single base substitution C T 3_prime_UTR_variant SKCA-BR 17 37368315 37368315 single base substitution A C 3_prime_UTR_variant SKCA-BR 17 37369651 37369651 single base substitution G A intron_variant SKCA-BR 17 37375078 37375078 single base substitution G A intron_variant SKCA-BR 17 37375195 37375195 single base substitution G A intron_variant SKCA-BR 17 37376837 37376837 single base substitution C T intron_variant SKCA-BR 17 37377372 37377372 single base substitution G A intron_variant SKCA-BR 17 37380378 37380378 single base substitution C T intron_variant SKCA-BR 17 37383270 37383270 single base substitution T C upstream_gene_variant SKCA-BR 17 37383985 37383985 single base substitution C T upstream_gene_variant SKCA-BR 17 37384033 37384033 single base substitution G A upstream_gene_variant SKCA-BR 17 37384307 37384307 single base substitution C T upstream_gene_variant SKCA-BR 17 37385629 37385629 single base substitution C G upstream_gene_variant SKCM-US 17 37369299 37369299 single base substitution T C 3_prime_UTR_variant SKCM-US 17 37369299 37369299 single base substitution T C synonymous_variant Q360Q 1080A>G SKCM-US 17 37369809 37369809 single base substitution G A missense_variant P315L 944C>T SKCM-US 17 37369809 37369809 single base substitution G A splice_region_variant SKCM-US 17 37371248 37371248 single base substitution C T 3_prime_UTR_variant SKCM-US 17 37371248 37371248 single base substitution C T missense_variant G243E 728G>A SKCM-US 17 37371268 37371268 single base substitution C T 3_prime_UTR_variant SKCM-US 17 37371268 37371268 single base substitution C T synonymous_variant R236R 708G>A SKCM-US 17 37373332 37373332 single base substitution C G exon_variant SKCM-US 17 37373332 37373332 single base substitution C G missense_variant K164N 492G>C SKCM-US 17 37374290 37374290 single base substitution G A intron_variant SKCM-US 17 37374290 37374290 single base substitution G A missense_variant P76L 227C>T SKCM-US 17 37381674 37381674 single base substitution C T exon_variant SKCM-US 17 37381674 37381674 single base substitution C T missense_variant E28K 82G>A THCA-SA 17 37368156 37368156 single base substitution G T 3_prime_UTR_variant THCA-SA 17 37370539 37370539 single base substitution G A 3_prime_UTR_variant THCA-SA 17 37370539 37370539 single base substitution G A synonymous_variant S296S 888C>T THCA-SA 17 37370540 37370540 single base substitution G A 3_prime_UTR_variant THCA-SA 17 37370540 37370540 single base substitution G A missense_variant S296F 887C>T THCA-US 17 37371255 37371255 single base substitution C T 3_prime_UTR_variant THCA-US 17 37371255 37371255 single base substitution C T missense_variant E241K 721G>A UCEC-US 17 37368632 37368632 single base substitution G A 3_prime_UTR_variant UCEC-US 17 37368632 37368632 single base substitution G A synonymous_variant G383G 1149C>T UCEC-US 17 37371256 37371256 single base substitution G A 3_prime_UTR_variant UCEC-US 17 37371256 37371256 single base substitution G A synonymous_variant T240T 720C>T UCEC-US 17 37371448 37371448 single base substitution G T exon_variant UCEC-US 17 37371448 37371448 single base substitution G T missense_variant L208M 622C>A UCEC-US 17 37373088 37373088 single base substitution G T exon_variant UCEC-US 17 37373088 37373088 single base substitution G T synonymous_variant A187A 561C>A UCEC-US 17 37373145 37373145 single base substitution G T exon_variant UCEC-US 17 37373145 37373145 single base substitution G T synonymous_variant S168S 504C>A UCEC-US 17 37373405 37373405 single base substitution C T exon_variant UCEC-US 17 37373405 37373405 single base substitution C T missense_variant R140Q 419G>A UCEC-US 17 37374361 37374361 single base substitution G T exon_variant UCEC-US 17 37374361 37374361 single base substitution G T missense_variant F52L 156C>A UCEC-US 17 37374419 37374419 single base substitution C T exon_variant UCEC-US 17 37374419 37374419 single base substitution C T missense_variant R33Q 98G>A

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand AOCS-108-1-7 COSM3983408 c.495+10G>A p.? Unknown 17:39217066-39217066 - 2492722 COSM5722602 c.587G>A p.G196E Substitution - Missense 17:39215230-39215230 - ICGC_MB84 COSM3764595 c.843+7C>T p.? Unknown 17:39214784-39214784 - Pat_26_B COSM5852380 c.947G>A p.G316E Substitution - Missense 17:39213553-39213553 - YUNIBO COSM5386204 c.942G>A p.Q314Q Substitution - coding silent 17:39213558-39213558 - CSCC-55-T COSM4548267 c.442G>A p.V148I Substitution - Missense 17:39217129-39217129 - TCGA-AP-A059-01 COSM978578 c.504C>A p.S168S Substitution - coding silent 17:39216892-39216892 - C91 COSM4444581 c.742C>T p.R248C Substitution - Missense 17:39214981-39214981 - PTC_269 COSM5960511 c.888C>T p.S296S Substitution - coding silent 17:39214286-39214286 - PCSI_0077_Pa_P_526 COSM2837704 c.494C>T p.T165M Substitution - Missense 17:39217077-39217077 - Pa37X COSM84389 c.699+4T>A p.? Unknown 17:39215114-39215114 - TCGA-A2-A0YE-01 COSM3819438 c.612C>A p.V204V Substitution - coding silent 17:39215205-39215205 - CSCC-31-T COSM4566457 c.381_382CC>TT p.H128Y Substitution - Missense 17:39217882-39217883 - TCGA-FR-A44A-06 COSM3516763 c.82G>A p.E28K Substitution - Missense 17:39225421-39225421 - SNU-175 COSM2837717 c.188C>A p.P63H Substitution - Missense 17:39218076-39218076 - T3152 COSM4730349 c.1112T>C p.M371T Substitution - Missense 17:39213014-39213014 - YUKAT COSM5386203 c.974C>T p.S325F Substitution - Missense 17:39213526-39213526 - TCGA-BP-4165-01 COSM3362110 c.370T>C p.C124R Substitution - Missense 17:39217894-39217894 - YUGATOR COSM5386208 c.110C>T p.S37F Substitution - Missense 17:39218154-39218154 - LAU63 COSM235439 c.525C>T p.S175S Substitution - coding silent 17:39216871-39216871 - T3724 COSM4730353 c.76_77insC p.L26fs*22 Insertion - Frameshift 17:39225426-39225427 - ccRCC-35 COSM1664367 c.847C>T p.P283S Substitution - Missense 17:39214327-39214327 - TCGA-FW-A3R5-06 COSM3889589 c.227C>T p.P76L Substitution - Missense 17:39218037-39218037 - 8047815 COSM3387836 c.508C>T p.R170C Substitution - Missense 17:39216888-39216888 - PCSI_0002_Pa_P COSM216389 c.1219G>A p.A407T Substitution - Missense 17:39212309-39212309 - 19M COSM3516763 c.82G>A p.E28K Substitution - Missense 17:39225421-39225421 - TCGA-AX-A0J0-01 COSM978581 c.98G>A p.R33Q Substitution - Missense 17:39218166-39218166 - PCSI_0002_Pa_X COSM216389 c.1219G>A p.A407T Substitution - Missense 17:39212309-39212309 - TCGA-HE-A5NJ-01 COSM4414464 c.402C>T p.N134N Substitution - coding silent 17:39217169-39217169 - TCGA-AA-A010-01 COSM285401 c.695G>A p.S232N Substitution - Missense 17:39215122-39215122 - 2492720 COSM5722602 c.587G>A p.G196E Substitution - Missense 17:39215230-39215230 - LUAD-NYU1051S COSM368648 c.118C>T p.L40F Substitution - Missense 17:39218146-39218146 - 2530678 COSM5885666 c.495+1G>A p.? Unknown 17:39217075-39217075 - T1204 COSM4730350 c.939G>A p.L313L Substitution - coding silent 17:39214235-39214235 - OSCC-GB_01040111 COSM4886041 c.488G>T p.G163V Substitution - Missense 17:39217083-39217083 - 2492721 COSM5722602 c.587G>A p.G196E Substitution - Missense 17:39215230-39215230 - CHC912T COSM4806388 c.76C>A p.L26I Substitution - Missense 17:39225427-39225427 - T27 COSM5342919 c.397+5G>T p.? Unknown 17:39217862-39217862 - CSCC-49-T COSM4557415 c.727G>A p.G243R Substitution - Missense 17:39214996-39214996 - T23 COSM5618159 c.308C>T p.A103V Substitution - Missense 17:39217956-39217956 - TCGA-33-4566-01 COSM705354 c.1129C>A p.Q377K Substitution - Missense 17:39212997-39212997 - HCC131 COSM1610153 c.227C>A p.P76H Substitution - Missense 17:39218037-39218037 - LAU63 COSM233505 c.526C>T p.P176S Substitution - Missense 17:39216870-39216870 - PCSI_0077_Pa_X COSM2837704 c.494C>T p.T165M Substitution - Missense 17:39217077-39217077 - TCGA-FR-A3R1-01 COSM3889588 c.1080A>G p.Q360Q Substitution - coding silent 17:39213046-39213046 - TCGA-EE-A3JD-06 COSM4396909 c.492G>C p.K164N Substitution - Missense 17:39217079-39217079 - TCGA-EK-A2H0-01 COSM4818898 c.1216G>C p.D406H Substitution - Missense 17:39212312-39212312 - RK006_C02 COSM1630162 c.1017C>T p.G339G Substitution - coding silent 17:39213109-39213109 - HCC131T COSM1610153 c.227C>A p.P76H Substitution - Missense 17:39218037-39218037 - 2334192 COSM315632 c.1196A>T p.K399M Substitution - Missense 17:39212332-39212332 - Au3 COSM5602375 c.700-1G>A p.? Unknown 17:39215024-39215024 - CSCC-29-T COSM4479794 c.235C>T p.P79S Substitution - Missense 17:39218029-39218029 - TCGA-CA-5254-01 COSM1382804 c.1134C>G p.I378M Substitution - Missense 17:39212394-39212394 - TCGA-33-4582-01 COSM705353 c.892G>C p.V298L Substitution - Missense 17:39214282-39214282 - TCGA-LG-A6GG-01 COSM4939399 c.757G>T p.G253W Substitution - Missense 17:39214966-39214966 - TCGA-A6-6781-01 COSM1382805 c.915C>T p.P305P Substitution - coding silent 17:39214259-39214259 - CSCC-35-T COSM4484276 c.278C>T p.P93L Substitution - Missense 17:39217986-39217986 - TCGA-B5-A0JY-01 COSM978575 c.720C>T p.T240T Substitution - coding silent 17:39215003-39215003 - BD236T COSM5519478 c.1131+2T>C p.? Unknown 17:39212993-39212993 - 426 COSM4432868 c.210C>A p.P70P Substitution - coding silent 17:39218054-39218054 - TCGA-DS-A7WF-01 COSM4821675 c.1003G>T p.G335C Substitution - Missense 17:39213123-39213123 - TCGA-EA-A43B-01 COSM4821885 c.666C>A p.F222L Substitution - Missense 17:39215151-39215151 - PD8614a COSM5769211 c.900C>T p.L300L Substitution - coding silent 17:39214274-39214274 - TCGA-AP-A059-01 COSM978574 c.1149C>T p.G383G Substitution - coding silent 17:39212379-39212379 - sysucc-783T COSM5484101 c.1180G>A p.V394I Substitution - Missense 17:39212348-39212348 - TCGA-G7-6790-01 COSM3988969 c.1197G>A p.K399K Substitution - coding silent 17:39212331-39212331 - TCGA-60-2698-01 COSM705352 c.581C>A p.P194H Substitution - Missense 17:39216815-39216815 - 2492723 COSM5722602 c.587G>A p.G196E Substitution - Missense 17:39215230-39215230 - TCGA-B5-A0JY-01 COSM978580 c.156C>A p.F52L Substitution - Missense 17:39218108-39218108 - HA_N96_14 COSM5967063 c.707G>A p.R236Q Substitution - Missense 17:39215016-39215016 - PCSI0002 COSM216389 c.1219G>A p.A407T Substitution - Missense 17:39212309-39212309 - TCGA-AX-A0J0-01 COSM978579 c.419G>A p.R140Q Substitution - Missense 17:39217152-39217152 - SJHGG102_D COSM4969934 c.638_653del16 p.L214fs*15 Deletion - Frameshift 17:39215164-39215179 - TCGA-B0-4707-01 COSM3362109 c.946G>A p.G316R Substitution - Missense 17:39213554-39213554 - TCGA-DA-A1IC-06 COSM3516762 c.708G>A p.R236R Substitution - coding silent 17:39215015-39215015 - TCGA-EE-A3JD-06 COSM4396727 c.728G>A p.G243E Substitution - Missense 17:39214995-39214995 - S01366 COSM315633 c.923A>T p.N308I Substitution - Missense 17:39214251-39214251 - LUAD-CHTN-Z4716A COSM361882 c.867G>T p.K289N Substitution - Missense 17:39214307-39214307 - TCGA-B0-5812-01 COSM472683 c.1131+2T>G p.? Unknown 17:39212993-39212993 - YUMOBER COSM5386206 c.543G>A p.E181E Substitution - coding silent 17:39216853-39216853 - C058 COSM5525637 c.1013T>C p.V338A Substitution - Missense 17:39213113-39213113 - Au1 COSM5597668 c.822G>A p.E274E Substitution - coding silent 17:39214812-39214812 - OSCC-GB_00530111 COSM4883318 c.1119C>G p.L373L Substitution - coding silent 17:39213007-39213007 - CSCC-16-T COSM4556311 c.687G>A p.P229P Substitution - coding silent 17:39215130-39215130 - T3724 COSM4730352 c.279delC p.S94fs*15 Deletion - Frameshift 17:39217985-39217985 - T2766 COSM4730351 c.509G>A p.R170H Substitution - Missense 17:39216887-39216887 - HDC90 COSM4637359 c.836G>C p.G279A Substitution - Missense 17:39214798-39214798 - TCGA-B0-5705-01 COSM472684 c.699+2T>C p.? Unknown 17:39215116-39215116 - TCGA-CA-6717-01 COSM1382808 c.153C>A p.N51K Substitution - Missense 17:39218111-39218111 - 041T COSM1729127 c.909T>A p.F303L Substitution - Missense 17:39214265-39214265 - TCGA-CA-6717-01 COSM1382803 c.1224G>A p.L408L Substitution - coding silent 17:39212304-39212304 - T75 COSM1177666 c.124A>G p.T42A Substitution - Missense 17:39218140-39218140 - S01366 COSM315633 c.923A>T p.N308I Substitution - Missense 17:39214251-39214251 - TCGA-HC-8257-01 COSM4393715 c.1046T>A p.V349E Substitution - Missense 17:39213080-39213080 - TCGA-G9-7522-01 COSM3672426 c.994G>T p.G332C Substitution - Missense 17:39213132-39213132 - YUPAT COSM1710184 c.1088C>T p.S363F Substitution - Missense 17:39213038-39213038 - HCT15 COSM2837686 c.1003G>A p.G335S Substitution - Missense 17:39213123-39213123 - LUAD-B00859 COSM332292 c.1116C>T p.S372S Substitution - coding silent 17:39213010-39213010 - TCGA-A8-A09D-01 COSM436483 c.1107T>G p.G369G Substitution - coding silent 17:39213019-39213019 - TCGA-AO-A124-01 COSM436484 c.1077C>G p.C359W Substitution - Missense 17:39213049-39213049 - Sample_1 COSM4997575 c.112C>A p.L38I Substitution - Missense 17:39218152-39218152 - YUKAT COSM5386205 c.553G>A p.V185I Substitution - Missense 17:39216843-39216843 - PD4199a COSM219665 c.712G>A p.E238K Substitution - Missense 17:39215011-39215011 - PTC_269 COSM2837688 c.887C>T p.S296F Substitution - Missense 17:39214287-39214287 - CHC912T COSM4806388 c.76C>A p.L26I Substitution - Missense 17:39225427-39225427 - YUNEKI COSM5386207 c.147G>A p.L49L Substitution - coding silent 17:39218117-39218117 - CSCC-16-T COSM4449297 c.19_21delAAG p.K7delK Deletion - In frame 17:39225482-39225484 - Pat_26_A COSM5852380 c.947G>A p.G316E Substitution - Missense 17:39213553-39213553 - TCGA-BG-A0MQ-01 COSM978576 c.622C>A p.L208M Substitution - Missense 17:39215195-39215195 - WA16 COSM241779 c.625C>T p.R209C Substitution - Missense 17:39215192-39215192 - TCGA-LP-A4AV-01 COSM4825405 c.900C>G p.L300L Substitution - coding silent 17:39214274-39214274 - TCGA-EL-A3GO-01 COSM3370700 c.721G>A p.E241K Substitution - Missense 17:39215002-39215002 - LUAD-CHTN-3090416 COSM357537 c.156C>T p.F52F Substitution - coding silent 17:39218108-39218108 - TCGA-AP-A0LM-01 COSM978577 c.561C>A p.A187A Substitution - coding silent 17:39216835-39216835 - TCGA-AZ-6601-01 COSM1382806 c.863G>A p.R288Q Substitution - Missense 17:39214311-39214311 - LUAD-S01357 COSM386806 c.97C>A p.R33R Substitution - coding silent 17:39218167-39218167 - TCGA-AM-5820-01 COSM3691525 c.1206G>A p.L402L Substitution - coding silent 17:39212322-39212322 - PD4252a COSM5784909 c.1178G>C p.R393P Substitution - Missense 17:39212350-39212350 - TCGA-EE-A2GC-06 COSM3516761 c.944C>T p.P315L Substitution - Missense 17:39213556-39213556 - TCGA-CM-6161-01 COSM1382807 c.615C>T p.Y205Y Substitution - coding silent 17:39215202-39215202 - TCGA-D8-A140-01 COSM436485 c.811C>A p.P271T Substitution - Missense 17:39214823-39214823 - H1672 COSM315632 c.1196A>T p.K399M Substitution - Missense 17:39212332-39212332 - DLD1 COSM2837686 c.1003G>A p.G335S Substitution - Missense 17:39213123-39213123 - PD11745a COSM5783153 c.772+1G>A p.? Unknown 17:39214950-39214950 - TCGA-FD-A3SN-01 COSM2837722 c.73G>A p.A25T Substitution - Missense 17:39225430-39225430 - BD114T COSM5504300 c.917A>T p.Q306L Substitution - Missense 17:39214257-39214257 - PD4199a COSM219665 c.712G>A p.E238K Substitution - Missense 17:39215011-39215011 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.145068 17q12 1214100|dbSNP|BC109231|A/G|non-coding||1975|Candidate

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C SpliceDonorSNV . c.1131+2T>G 17 37369246 RCCC A C Synonymous p.G369G c.1107T>G 17 37369272 BRCA A G Missense p.C124R c.370T>C 17 37374147 RCCC A T Missense p.V349E c.1046T>A 17 37369333 PRAD C A Missense p.G243W c.727G>T 17 37371249 STAD C A Missense p.G332C c.994G>T 17 37369385 PRAD C A Synonymous p.P11P c.33G>T 17 37381723 BRCA CCCGGTC - Frameshift p.D336Lfs*12 c.1006_1012delGACCGGG 17 37369367 BRCA C G Missense p.K164N c.492G>C 17 37373332 CM C G Missense p.V298L c.892G>C 17 37370535 LUSC C T Missense p.A407T c.1219G>A 17 37368562 PAAD C T Missense p.E241K c.721G>A 17 37371255 THCA C T Missense p.E28K c.82G>A 17 37381674 CM C T Missense p.G243E c.728G>A 17 37371248 CM C T Missense p.G316R c.946G>A 17 37369807 RCCC C T Missense p.R55H c.164G>A 17 37374353 BRCA C T Synonymous p.R236R c.708G>A 17 37371268 CM G A Missense p.P315L c.944C>T 17 37369809 CM G A Missense p.S78F c.233C>T 17 37374284 CM G A Synonymous p.D389D c.1167C>T 17 37368614 HNSC G A Synonymous p.G211G c.633C>T 17 37371437 HNSC G A Synonymous p.G339G c.1017C>T 17 37369362 HC G C Missense p.C359W c.1077C>G 17 37369302 BRCA G T Missense p.L208M c.622C>A 17 37371448 UCEC G T Missense p.L300I c.898C>A 17 37370529 BRCA G T Missense p.P271T c.811C>A 17 37371076 BRCA G T Synonymous p.P305P c.915C>A 17 37370512 LUAD G T Synonymous p.R337R c.1009C>A 17 37369370 HNSC T A IntronicSNV . c.699+4T>A 17 37371367 PAAD T A Missense p.K399M c.1196A>T 17 37368585 SCLC T A Missense p.N308I c.923A>T 17 37370504 SCLC