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 46654110 46654110 + Missense_Mutation SNP G G A TCGA-BL-A13J-01A-11D-A10S-08 TCGA-BL-A13J-10A-01D-A10S-08 g.chr17:46654110G>A c.730C>T c.(730-732)Ccc>Tcc p.P244S BLCA 17 46654171 46654171 + Missense_Mutation SNP C C A TCGA-CU-A0YR-01A-12D-A10S-08 TCGA-CU-A0YR-10A-01D-A10S-08 g.chr17:46654171C>A c.669G>T c.(667-669)ttG>ttT p.L223F BLCA 17 46654260 46654260 + Missense_Mutation SNP C C G TCGA-GD-A2C5-01A-12D-A17V-08 TCGA-GD-A2C5-10A-01D-A17V-08 g.chr17:46654260C>G c.580G>C c.(580-582)Gag>Cag p.E194Q BLCA 17 46654347 46654347 + Missense_Mutation SNP A A C TCGA-XF-AAN1-01A-31D-A42E-08 TCGA-XF-AAN1-10A-01D-A42H-08 g.chr17:46654347A>C c.493T>G c.(493-495)Tct>Gct p.S165A BRCA 17 46655607 46655607 + Missense_Mutation SNP C C A TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr17:46655607C>A c.75G>T c.(73-75)caG>caT p.Q25H BRCA 17 46655621 46655621 + Missense_Mutation SNP C C G TCGA-AO-A03M-01B-11D-A10M-09 TCGA-AO-A03M-10A-01D-A10M-09 g.chr17:46655621C>G c.61G>C c.(61-63)Gag>Cag p.E21Q CESC 17 46654215 46654215 + Missense_Mutation SNP A A C TCGA-C5-A7CO-01A-11D-A351-09 TCGA-C5-A7CO-10A-01D-A351-09 g.chr17:46654215A>C c.625T>G c.(625-627)Tgg>Ggg p.W209G CESC 17 46655232 46655232 + Silent SNP C C T TCGA-EK-A3GK-01A-11D-A20U-09 TCGA-EK-A3GK-10A-01D-A20U-09 g.chr17:46655232C>T c.450G>A c.(448-450)gtG>gtA p.V150V COAD 17 46655594 46655594 + Missense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr17:46655594G>A c.88C>T c.(88-90)Ccc>Tcc p.P30S COADREAD 17 46654195 46654195 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:46654195C>A c.645G>T c.(643-645)atG>atT p.M215I COADREAD 17 46655594 46655594 + Missense_Mutation SNP G G A TCGA-D5-6930-01A-11D-1924-10 TCGA-D5-6930-10A-01D-1924-10 g.chr17:46655594G>A c.88C>T c.(88-90)Ccc>Tcc p.P30S GBMLGG 17 46654355 46654355 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:46654355G>T c.485C>A c.(484-486)cCc>cAc p.P162H GBMLGG 17 46655328 46655328 + Silent SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 g.chr17:46655328C>T c.354G>A c.(352-354)ccG>ccA p.P118P HNSC 17 46654222 46654222 + Missense_Mutation SNP G G C TCGA-CN-4734-01A-01D-1434-08 TCGA-CN-4734-10A-01D-1434-08 g.chr17:46654222G>C c.618C>G c.(616-618)atC>atG p.I206M HNSC 17 46655603 46655603 + Missense_Mutation SNP C C T TCGA-CV-7568-01A-11D-2229-08 TCGA-CV-7568-10A-01D-2229-08 g.chr17:46655603C>T c.79G>A c.(79-81)Gat>Aat p.D27N KICH 17 46654334 46654334 + Missense_Mutation SNP T T A TCGA-KL-8334-01A-11D-2310-10 TCGA-KL-8334-11A-01D-2310-10 g.chr17:46654334T>A c.506A>T c.(505-507)tAc>tTc p.Y169F KIPAN 17 46654154 46654154 + Missense_Mutation SNP C C T TCGA-B0-5110-01A-01D-1421-08 TCGA-B0-5110-11A-01D-1421-08 g.chr17:46654154C>T c.686G>A c.(685-687)cGc>cAc p.R229H KIPAN 17 46654168 46654168 + Silent SNP G G C TCGA-B2-5641-01A-01D-1534-10 TCGA-B2-5641-10A-01D-1535-10 g.chr17:46654168G>C c.672C>G c.(670-672)ccC>ccG p.P224P KIPAN 17 46654334 46654334 + Missense_Mutation SNP T T A TCGA-KL-8334-01A-11D-2310-10 TCGA-KL-8334-11A-01D-2310-10 g.chr17:46654334T>A c.506A>T c.(505-507)tAc>tTc p.Y169F KIPAN 17 46654346 46654346 + Missense_Mutation SNP G G T TCGA-G7-A4TM-01A-11D-A31X-10 TCGA-G7-A4TM-10B-01D-A31X-10 g.chr17:46654346G>T c.494C>A c.(493-495)tCt>tAt p.S165Y KIPAN 17 46655633 46655634 + In_Frame_Ins INS - - CTT TCGA-B1-A656-01A-11D-A31X-10 TCGA-B1-A656-10A-01D-A31X-10 g.chr17:46655633_46655634insCTT c.48_49insAAG c.(46-51)aagttc>aagAAGttc p.16_17insK KIRC 17 46654154 46654154 + Missense_Mutation SNP C C T TCGA-B0-5110-01A-01D-1421-08 TCGA-B0-5110-11A-01D-1421-08 g.chr17:46654154C>T c.686G>A c.(685-687)cGc>cAc p.R229H KIRC 17 46654168 46654168 + Silent SNP G G C TCGA-B2-5641-01A-01D-1534-10 TCGA-B2-5641-10A-01D-1535-10 g.chr17:46654168G>C c.672C>G c.(670-672)ccC>ccG p.P224P KIRP 17 46654346 46654346 + Missense_Mutation SNP G G T TCGA-G7-A4TM-01A-11D-A31X-10 TCGA-G7-A4TM-10B-01D-A31X-10 g.chr17:46654346G>T c.494C>A c.(493-495)tCt>tAt p.S165Y KIRP 17 46655633 46655634 + In_Frame_Ins INS - - CTT TCGA-B1-A656-01A-11D-A31X-10 TCGA-B1-A656-10A-01D-A31X-10 g.chr17:46655633_46655634insCTT c.48_49insAAG c.(46-51)aagttc>aagAAGttc p.16_17insK LGG 17 46654355 46654355 + Missense_Mutation SNP G G T TCGA-DU-6392-01A-11D-1705-08 TCGA-DU-6392-10A-01D-1705-08 g.chr17:46654355G>T c.485C>A c.(484-486)cCc>cAc p.P162H LGG 17 46655328 46655328 + Silent SNP C C T TCGA-E1-A7YS-01A-11D-A34A-08 TCGA-E1-A7YS-10A-01D-A34A-08 g.chr17:46655328C>T c.354G>A c.(352-354)ccG>ccA p.P118P LIHC 17 46655285 46655285 + Frame_Shift_Del DEL G G - TCGA-2Y-A9H5-01A-11D-A382-10 TCGA-2Y-A9H5-10A-01D-A385-10 g.chr17:46655285delG c.397delC c.(397-399)cacfs p.H133fs LIHC 17 46655393 46655393 + Missense_Mutation SNP G G A TCGA-DD-AAC9-01A-11D-A40R-10 TCGA-DD-AAC9-10A-01D-A40U-10 g.chr17:46655393G>A c.289C>T c.(289-291)Cca>Tca p.P97S LUAD 17 46654113 46654113 + Silent SNP G G T TCGA-J2-A4AD-01A-11D-A24D-08 TCGA-J2-A4AD-10A-01D-A24F-08 g.chr17:46654113G>T c.727C>A c.(727-729)Cgg>Agg p.R243R LUAD 17 46654118 46654118 + Missense_Mutation SNP G G T TCGA-49-6767-01A-11D-1855-08 TCGA-49-6767-11A-01D-1855-08 g.chr17:46654118G>T c.722C>A c.(721-723)cCt>cAt p.P241H LUAD 17 46654125 46654125 + Missense_Mutation SNP C C T TCGA-55-7994-01A-11D-2184-08 TCGA-55-7994-10A-01D-2184-08 g.chr17:46654125C>T c.715G>A c.(715-717)Ggg>Agg p.G239R LUAD 17 46654168 46654168 + Frame_Shift_Del DEL G G - TCGA-50-5946-01A-11D-1753-08 TCGA-50-5946-10A-01D-1753-08 g.chr17:46654168delG c.672delC c.(670-672)cccfs p.P224fs LUAD 17 46654196 46654196 + Missense_Mutation SNP A A T TCGA-78-7155-01A-11D-2036-08 TCGA-78-7155-10A-01D-2036-08 g.chr17:46654196A>T c.644T>A c.(643-645)aTg>aAg p.M215K LUAD 17 46655326 46655326 + Missense_Mutation SNP G G T TCGA-05-4249-01A-01D-1105-08 TCGA-05-4249-10A-01D-1105-08 g.chr17:46655326G>T c.356C>A c.(355-357)cCg>cAg p.P119Q OV 17 46655279 46655279 + Missense_Mutation SNP C C T TCGA-13-0923-01A-01W-0420-08 TCGA-13-0923-10A-01D-0399-08 g.chr17:46655279C>T c.403G>A c.(403-405)Gcg>Acg p.A135T PRAD 17 46655264 46655264 + Missense_Mutation SNP C C T TCGA-XK-AAIW-01A-11D-A41K-08 TCGA-XK-AAIW-10A-01D-A41N-08 g.chr17:46655264C>T c.418G>A c.(418-420)Gtc>Atc p.V140I PRAD 17 46655387 46655387 + Missense_Mutation SNP C C T TCGA-ZG-A9L4-01A-11D-A41K-08 TCGA-ZG-A9L4-10A-01D-A41N-08 g.chr17:46655387C>T c.295G>A c.(295-297)Gcc>Acc p.A99T READ 17 46654195 46654195 + Missense_Mutation SNP C C A TCGA-AG-A002-01A-01W-A00K-09 TCGA-AG-A002-10A-01W-A00K-09 g.chr17:46654195C>A c.645G>T c.(643-645)atG>atT p.M215I SKCM 17 46654296 46654296 + Missense_Mutation SNP G G A TCGA-FW-A3R5-06A-11D-A23B-08 TCGA-FW-A3R5-10A-01D-A23B-08 g.chr17:46654296G>A c.544C>T c.(544-546)Cac>Tac p.H182Y SKCM 17 46655307 46655307 + Silent SNP G G A TCGA-EE-A2MT-06A-11D-A197-08 TCGA-EE-A2MT-10A-01D-A199-08 g.chr17:46655307G>A c.375C>T c.(373-375)aaC>aaT p.N125N

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 46654110 46654110 single base substitution G A missense_variant P244S 730C>T BLCA-US 17 46654171 46654171 single base substitution C A missense_variant L223F 669G>T BLCA-US 17 46654260 46654260 single base substitution C G missense_variant E194Q 580G>C BOCA-FR 17 46648507 46648507 single base substitution C T downstream_gene_variant BRCA-EU 17 46648414 46648414 single base substitution G A downstream_gene_variant BRCA-EU 17 46649110 46649110 single base substitution G A downstream_gene_variant BRCA-EU 17 46649197 46649197 single base substitution C T downstream_gene_variant BRCA-EU 17 46650204 46650204 single base substitution C T downstream_gene_variant BRCA-EU 17 46650575 46650575 single base substitution C G downstream_gene_variant BRCA-EU 17 46651133 46651133 single base substitution C G downstream_gene_variant BRCA-EU 17 46651149 46651149 single base substitution G A downstream_gene_variant BRCA-EU 17 46653361 46653361 deletion of <=200bp C - 3_prime_UTR_variant BRCA-EU 17 46653607 46653607 single base substitution G A 3_prime_UTR_variant BRCA-EU 17 46653923 46653923 single base substitution C G 3_prime_UTR_variant BRCA-EU 17 46654635 46654635 single base substitution C T intron_variant BRCA-EU 17 46655064 46655064 single base substitution T A intron_variant BRCA-EU 17 46656388 46656388 single base substitution C T 5_prime_UTR_variant BRCA-EU 17 46656411 46656411 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant BRCA-EU 17 46657818 46657818 single base substitution C G upstream_gene_variant BRCA-EU 17 46658172 46658172 single base substitution C T upstream_gene_variant BRCA-EU 17 46658407 46658407 single base substitution A G upstream_gene_variant BRCA-EU 17 46658818 46658818 single base substitution G T upstream_gene_variant BRCA-EU 17 46659964 46659964 single base substitution C T upstream_gene_variant BRCA-EU 17 46660127 46660127 single base substitution C T upstream_gene_variant BRCA-EU 17 46660161 46660161 single base substitution C A upstream_gene_variant BRCA-EU 17 46660670 46660670 single base substitution C T upstream_gene_variant BRCA-EU 17 46661223 46661223 single base substitution C T upstream_gene_variant BRCA-EU 17 46661241 46661241 single base substitution C G upstream_gene_variant BRCA-EU 17 46661381 46661381 single base substitution G A upstream_gene_variant BRCA-EU 17 46661392 46661392 single base substitution C T upstream_gene_variant BRCA-EU 17 46661408 46661408 single base substitution C T upstream_gene_variant BRCA-EU 17 46661450 46661450 single base substitution T G upstream_gene_variant BRCA-EU 17 46661546 46661546 single base substitution C A upstream_gene_variant BRCA-EU 17 46661893 46661893 single base substitution C G upstream_gene_variant BRCA-EU 17 46662216 46662216 single base substitution C T upstream_gene_variant BRCA-EU 17 46662219 46662219 single base substitution C T upstream_gene_variant BRCA-FR 17 46655064 46655064 single base substitution T A intron_variant BRCA-FR 17 46661241 46661241 single base substitution C G upstream_gene_variant BRCA-FR 17 46661381 46661381 single base substitution G A upstream_gene_variant BRCA-FR 17 46661408 46661408 single base substitution C T upstream_gene_variant BRCA-FR 17 46661893 46661893 single base substitution C G upstream_gene_variant BRCA-FR 17 46662216 46662216 single base substitution C T upstream_gene_variant BRCA-FR 17 46662219 46662219 single base substitution C T upstream_gene_variant BRCA-UK 17 46659964 46659964 single base substitution C T upstream_gene_variant BRCA-US 17 46655607 46655607 single base substitution C A missense_variant Q25H 75G>T BRCA-US 17 46655621 46655621 single base substitution C G missense_variant E21Q 61G>C BTCA-JP 17 46654430 46654430 single base substitution G A intron_variant CESC-US 17 46654215 46654215 single base substitution A C missense_variant W209G 625T>G CESC-US 17 46655232 46655232 single base substitution C T synonymous_variant V150V 450G>A CLLE-ES 17 46650680 46650680 single base substitution C T downstream_gene_variant CLLE-ES 17 46654028 46654028 single base substitution C T 3_prime_UTR_variant COAD-US 17 46655594 46655594 single base substitution G A missense_variant P30S 88C>T COCA-CN 17 46651274 46651274 single base substitution G T downstream_gene_variant COCA-CN 17 46657180 46657180 single base substitution T A 5_prime_UTR_variant ESAD-UK 17 46649345 46649345 single base substitution C T downstream_gene_variant ESAD-UK 17 46653557 46653557 single base substitution A G 3_prime_UTR_variant ESAD-UK 17 46654073 46654073 single base substitution G A 3_prime_UTR_variant ESAD-UK 17 46654796 46654796 single base substitution A G intron_variant ESAD-UK 17 46657019 46657019 single base substitution C T 5_prime_UTR_variant ESAD-UK 17 46657179 46657179 insertion of <=200bp - T 5_prime_UTR_variant ESAD-UK 17 46659304 46659304 single base substitution C T upstream_gene_variant ESCA-CN 17 46654044 46654044 single base substitution A C 3_prime_UTR_variant KIRC-US 17 46654154 46654154 single base substitution C T missense_variant R229H 686G>A KIRC-US 17 46654168 46654168 single base substitution G C synonymous_variant P224P 672C>G KIRP-US 17 46654346 46654346 single base substitution G T missense_variant S165Y 494C>A LICA-CN 17 46655676 46655676 single base substitution A C synonymous_variant A2A 6T>G LICA-FR 17 46654240 46654240 single base substitution G A synonymous_variant C200C 600C>T LICA-FR 17 46654254 46654254 single base substitution C T missense_variant A196T 586G>A LICA-FR 17 46654341 46654341 single base substitution T A missense_variant T167S 499A>T LICA-FR 17 46658320 46658320 single base substitution T A upstream_gene_variant LINC-JP 17 46654402 46654402 single base substitution G A intron_variant LINC-JP 17 46654431 46654431 single base substitution A G intron_variant LINC-JP 17 46655143 46655143 deletion of <=200bp C - intron_variant LIRI-JP 17 46648077 46648077 single base substitution C T downstream_gene_variant LIRI-JP 17 46648321 46648321 single base substitution A G downstream_gene_variant LIRI-JP 17 46649653 46649653 single base substitution G A downstream_gene_variant LIRI-JP 17 46650264 46650264 deletion of <=200bp C - downstream_gene_variant LIRI-JP 17 46652914 46652914 single base substitution A G 3_prime_UTR_variant LIRI-JP 17 46656859 46656859 single base substitution T C 5_prime_UTR_variant LIRI-JP 17 46657317 46657317 single base substitution C T 5_prime_UTR_variant LIRI-JP 17 46659065 46659065 single base substitution G A upstream_gene_variant LIRI-JP 17 46660330 46660330 single base substitution C A upstream_gene_variant LUSC-KR 17 46648094 46648094 single base substitution G A downstream_gene_variant LUSC-KR 17 46649102 46649102 single base substitution C T downstream_gene_variant LUSC-KR 17 46652452 46652452 single base substitution G A downstream_gene_variant LUSC-KR 17 46653252 46653252 single base substitution G A 3_prime_UTR_variant LUSC-KR 17 46656172 46656172 single base substitution G T 5_prime_UTR_variant LUSC-KR 17 46657863 46657863 single base substitution G C upstream_gene_variant LUSC-KR 17 46658212 46658212 single base substitution G T upstream_gene_variant LUSC-KR 17 46660225 46660225 single base substitution G T upstream_gene_variant LUSC-KR 17 46662247 46662247 single base substitution G A upstream_gene_variant LUSC-US 17 46657302 46657302 single base substitution G C 5_prime_UTR_variant MALY-DE 17 46651522 46651522 single base substitution T A downstream_gene_variant MALY-DE 17 46655678 46655678 single base substitution C T missense_variant A2T 4G>A MELA-AU 17 46648061 46648062 multiple base substitution (>=2bp and <=200bp) AG TA downstream_gene_variant MELA-AU 17 46648809 46648809 single base substitution G A downstream_gene_variant MELA-AU 17 46649233 46649233 single base substitution C T downstream_gene_variant MELA-AU 17 46649330 46649330 single base substitution C T downstream_gene_variant MELA-AU 17 46649909 46649909 single base substitution C T downstream_gene_variant MELA-AU 17 46649914 46649914 single base substitution G A downstream_gene_variant MELA-AU 17 46649933 46649933 single base substitution G A downstream_gene_variant MELA-AU 17 46650239 46650239 single base substitution C T downstream_gene_variant MELA-AU 17 46650803 46650803 single base substitution C T downstream_gene_variant MELA-AU 17 46650887 46650887 single base substitution C T downstream_gene_variant MELA-AU 17 46650959 46650959 single base substitution A T downstream_gene_variant MELA-AU 17 46651614 46651614 single base substitution C T downstream_gene_variant MELA-AU 17 46651628 46651628 single base substitution C A downstream_gene_variant MELA-AU 17 46651652 46651652 single base substitution C T downstream_gene_variant MELA-AU 17 46651669 46651669 single base substitution G A downstream_gene_variant MELA-AU 17 46651673 46651673 single base substitution G A downstream_gene_variant MELA-AU 17 46651747 46651747 single base substitution G A downstream_gene_variant MELA-AU 17 46652578 46652578 single base substitution G A downstream_gene_variant MELA-AU 17 46652648 46652648 single base substitution G A downstream_gene_variant MELA-AU 17 46652922 46652922 single base substitution C G 3_prime_UTR_variant MELA-AU 17 46652990 46652990 single base substitution G A 3_prime_UTR_variant MELA-AU 17 46653460 46653460 single base substitution G A 3_prime_UTR_variant MELA-AU 17 46654578 46654579 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 17 46654724 46654724 single base substitution C T intron_variant MELA-AU 17 46654755 46654755 single base substitution C T intron_variant MELA-AU 17 46654962 46654962 single base substitution C T intron_variant MELA-AU 17 46655207 46655207 single base substitution G A intron_variant MELA-AU 17 46656287 46656287 single base substitution C T 5_prime_UTR_variant MELA-AU 17 46656399 46656399 single base substitution G A 5_prime_UTR_variant MELA-AU 17 46656480 46656480 single base substitution C A 5_prime_UTR_variant MELA-AU 17 46656632 46656632 single base substitution C T 5_prime_UTR_variant MELA-AU 17 46656690 46656690 single base substitution C T 5_prime_UTR_variant MELA-AU 17 46656786 46656786 single base substitution C T 5_prime_UTR_variant MELA-AU 17 46656813 46656813 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 46656861 46656861 single base substitution C T 5_prime_UTR_variant MELA-AU 17 46656913 46656913 single base substitution C T 5_prime_UTR_variant MELA-AU 17 46657241 46657241 single base substitution G A 5_prime_UTR_premature_start_codon_gain_variant MELA-AU 17 46657261 46657261 single base substitution C T 5_prime_UTR_variant MELA-AU 17 46657393 46657393 single base substitution C T 5_prime_UTR_variant MELA-AU 17 46657596 46657596 single base substitution G A upstream_gene_variant MELA-AU 17 46657712 46657712 single base substitution A T upstream_gene_variant MELA-AU 17 46657808 46657808 single base substitution G A upstream_gene_variant MELA-AU 17 46658045 46658045 single base substitution C T upstream_gene_variant MELA-AU 17 46658103 46658103 single base substitution G A upstream_gene_variant MELA-AU 17 46658118 46658118 single base substitution C T upstream_gene_variant MELA-AU 17 46658149 46658149 single base substitution C T upstream_gene_variant MELA-AU 17 46658846 46658846 single base substitution C T upstream_gene_variant MELA-AU 17 46659101 46659101 single base substitution G A upstream_gene_variant MELA-AU 17 46659122 46659122 single base substitution C T upstream_gene_variant MELA-AU 17 46659382 46659382 single base substitution C T upstream_gene_variant MELA-AU 17 46659930 46659930 single base substitution C T upstream_gene_variant MELA-AU 17 46660227 46660227 single base substitution G A upstream_gene_variant MELA-AU 17 46660283 46660283 single base substitution G A upstream_gene_variant MELA-AU 17 46660538 46660538 single base substitution C T upstream_gene_variant MELA-AU 17 46660895 46660895 single base substitution G A upstream_gene_variant MELA-AU 17 46661018 46661018 single base substitution C T upstream_gene_variant MELA-AU 17 46661132 46661132 single base substitution G A upstream_gene_variant MELA-AU 17 46661387 46661387 single base substitution G A upstream_gene_variant MELA-AU 17 46661726 46661726 single base substitution G A upstream_gene_variant MELA-AU 17 46661811 46661811 single base substitution C T upstream_gene_variant MELA-AU 17 46662450 46662450 single base substitution C T upstream_gene_variant ORCA-IN 17 46654340 46654340 single base substitution G T missense_variant T167N 500C>A ORCA-IN 17 46661392 46661392 single base substitution C T upstream_gene_variant PACA-AU 17 46648371 46648371 single base substitution G T downstream_gene_variant PACA-AU 17 46649885 46649885 single base substitution C G downstream_gene_variant PACA-AU 17 46656669 46656669 single base substitution C T 5_prime_UTR_variant PACA-AU 17 46657348 46657348 single base substitution C T 5_prime_UTR_variant PACA-AU 17 46658170 46658170 single base substitution C T upstream_gene_variant PACA-AU 17 46661078 46661078 single base substitution C A upstream_gene_variant PACA-CA 17 46653008 46653008 single base substitution A T 3_prime_UTR_variant PACA-CA 17 46653714 46653714 single base substitution G A 3_prime_UTR_variant PACA-CA 17 46654449 46654449 single base substitution T C intron_variant PACA-CA 17 46654596 46654596 single base substitution G C intron_variant PACA-CA 17 46656245 46656245 single base substitution G A 5_prime_UTR_variant PACA-CA 17 46657167 46657167 insertion of <=200bp - AT 5_prime_UTR_variant PACA-CA 17 46657178 46657178 single base substitution A T 5_prime_UTR_variant PACA-CA 17 46657239 46657239 single base substitution A T 5_prime_UTR_variant PACA-CA 17 46659705 46659705 single base substitution G A upstream_gene_variant PAEN-AU 17 46658196 46658196 single base substitution G A upstream_gene_variant PAEN-IT 17 46661454 46661454 single base substitution G A upstream_gene_variant PBCA-DE 17 46650863 46650863 single base substitution G T downstream_gene_variant PBCA-DE 17 46651118 46651118 single base substitution G A downstream_gene_variant PBCA-DE 17 46659762 46659762 single base substitution G A upstream_gene_variant PBCA-DE 17 46660165 46660165 single base substitution C T upstream_gene_variant PBCA-DE 17 46660633 46660633 single base substitution C T upstream_gene_variant PRAD-CA 17 46656376 46656376 single base substitution T C 5_prime_UTR_variant PRAD-UK 17 46648538 46648538 single base substitution G A downstream_gene_variant PRAD-UK 17 46652718 46652718 single base substitution G T downstream_gene_variant PRAD-UK 17 46653640 46653640 single base substitution G A 3_prime_UTR_variant PRAD-UK 17 46658810 46658810 single base substitution C T upstream_gene_variant PRAD-US 17 46657168 46657169 deletion of <=200bp AT - 5_prime_UTR_variant SKCA-BR 17 46649867 46649867 single base substitution A G downstream_gene_variant SKCA-BR 17 46654044 46654044 single base substitution A C 3_prime_UTR_variant SKCA-BR 17 46658484 46658484 single base substitution C T upstream_gene_variant SKCA-BR 17 46659525 46659525 single base substitution G A upstream_gene_variant SKCA-BR 17 46660962 46660962 single base substitution C T upstream_gene_variant SKCA-BR 17 46661141 46661141 single base substitution G A upstream_gene_variant SKCM-US 17 46654296 46654296 single base substitution G A missense_variant H182Y 544C>T SKCM-US 17 46655307 46655307 single base substitution G A synonymous_variant N125N 375C>T STAD-US 17 46654092 46654092 single base substitution C T missense_variant A250T 748G>A STAD-US 17 46654330 46654330 single base substitution C T synonymous_variant T170T 510G>A STAD-US 17 46655263 46655263 single base substitution A G missense_variant V140A 419T>C UCEC-US 17 46657217 46657217 single base substitution T C 5_prime_UTR_variant UCEC-US 17 46657308 46657310 deletion of <=200bp TCT - 5_prime_UTR_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-CG-4306-01 COSM4067382 c.510G>A p.T170T Substitution - coding silent 17:48576968-48576968 - LS411 COSM2697591 c.37G>T p.V13F Substitution - Missense 17:48578283-48578283 - TCGA-B0-5110-01 COSM472953 c.686G>A p.R229H Substitution - Missense 17:48576792-48576792 - TCGA-BL-A13J-01 COSM417475 c.730C>T p.P244S Substitution - Missense 17:48576748-48576748 - YUKSI COSM5386593 c.386C>T p.P129L Substitution - Missense 17:48577934-48577934 - S02328 COSM5691918 c.510G>C p.T170T Substitution - coding silent 17:48576968-48576968 - LUAD_E00565 COSM389211 c.37G>A p.V13I Substitution - Missense 17:48578283-48578283 - TCGA-BR-8372-01 COSM4067383 c.419T>C p.V140A Substitution - Missense 17:48577901-48577901 - CHC793T COSM4951110 c.586G>A p.A196T Substitution - Missense 17:48576892-48576892 - TCGA-13-0923-01 COSM71090 c.403G>A p.A135T Substitution - Missense 17:48577917-48577917 - HCC058T COSM5804202 c.6T>G p.A2A Substitution - coding silent 17:48578314-48578314 - TCGA-CU-A0YR-01 COSM417474 c.669G>T p.L223F Substitution - Missense 17:48576809-48576809 - SJRHB001 COSM3738361 c.434T>G p.M145R Substitution - Missense 17:48577886-48577886 - 406 COSM4430179 c.475G>C p.G159R Substitution - Missense 17:48577003-48577003 - CHC793T COSM4951110 c.586G>A p.A196T Substitution - Missense 17:48576892-48576892 - 61 COSM5741025 c.572G>A p.R191Q Substitution - Missense 17:48576906-48576906 - SJRHB001_D COSM3738361 c.434T>G p.M145R Substitution - Missense 17:48577886-48577886 - CHC1205T COSM4799874 c.499A>T p.T167S Substitution - Missense 17:48576979-48576979 - 29T COSM3712357 c.500C>A p.T167N Substitution - Missense 17:48576978-48576978 - OSCC-GB_00290111 COSM3712357 c.500C>A p.T167N Substitution - Missense 17:48576978-48576978 - S01297 COSM5667495 c.255A>C p.P85P Substitution - coding silent 17:48578065-48578065 - C0017T COSM2697590 c.57A>G p.P19P Substitution - coding silent 17:48578263-48578263 - ESO-859 COSM1239087 c.335C>T p.A112V Substitution - Missense 17:48577985-48577985 - TCGA-AO-A03M-01 COSM3819864 c.75G>T p.Q25H Substitution - Missense 17:48578245-48578245 - CLL115 COSM1290715 c.271C>T p.P91S Substitution - Missense 17:48578049-48578049 - ESO-555 COSM1254356 c.609_610GC>TT p.E203_R204>DC Complex - compound substitution 17:48576868-48576869 - TCGA-EE-A2MT-06 COSM3518732 c.375C>T p.N125N Substitution - coding silent 17:48577945-48577945 - CHC1061T COSM3668015 c.600C>T p.C200C Substitution - coding silent 17:48576878-48576878 - TCGA-EK-A3GK-01 COSM4854568 c.450G>A p.V150V Substitution - coding silent 17:48577870-48577870 - TCGA-B2-5641-01 COSM472954 c.672C>G p.P224P Substitution - coding silent 17:48576806-48576806 - S0057 COSM5882865 c.686G>T p.R229L Substitution - Missense 17:48576792-48576792 - TCGA-GD-A2C5-01 COSM1302969 c.580G>C p.E194Q Substitution - Missense 17:48576898-48576898 - 9642_CLM COSM5755064 c.651G>A p.W217* Substitution - Nonsense 17:48576827-48576827 - TCGA-FW-A3R5-06 COSM3889822 c.544C>T p.H182Y Substitution - Missense 17:48576934-48576934 - TCGA-D5-6930-01 COSM1384007 c.88C>T p.P30S Substitution - Missense 17:48578232-48578232 - CHC1061T COSM3668015 c.600C>T p.C200C Substitution - coding silent 17:48576878-48576878 - TCGA-AO-A03M-01 COSM3819865 c.61G>C p.E21Q Substitution - Missense 17:48578259-48578259 - TCGA-HU-A4H4-01 COSM4067381 c.748G>A p.A250T Substitution - Missense 17:48576730-48576730 - S02352 COSM5695310 c.234A>C p.P78P Substitution - coding silent 17:48578086-48578086 - CHC1205T COSM4799874 c.499A>T p.T167S Substitution - Missense 17:48576979-48576979 - pfg068T COSM4747156 c.722delC p.P241fs*>11 Deletion - Frameshift 17:48576756-48576756 - MD-296 COSM302387 c.407G>C p.C136S Substitution - Missense 17:48577913-48577913 - TCGA-C5-A7CO-01 COSM4856353 c.625T>G p.W209G Substitution - Missense 17:48576853-48576853 - S01542 COSM5669607 c.246G>C p.P82P Substitution - coding silent 17:48578074-48578074 - MedB-1 COSM5621003 c.320G>A p.G107D Substitution - Missense 17:48578000-48578000 - TCGA-G7-A4TM-01 COSM3989100 c.494C>A p.S165Y Substitution - Missense 17:48576984-48576984 - S02382 COSM5697838 c.509C>G p.T170R Substitution - Missense 17:48576969-48576969 - C135 COSM4611006 c.657_658insA p.D220fs*>33 Insertion - Frameshift 17:48576820-48576821 -

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.664670;Hs.664671;Hs.664672;Hs.664673;Hs.664674;Hs.664676;Hs.664677;Hs.664678;Hs.664679;Hs.664681;Hs.664682;Hs.664683;Hs.664684;Hs.664685;Hs.664687;Hs.664688;Hs.664689;Hs.664690;Hs.664691;Hs.664692;Hs.664693;Hs.664694;Hs.664695;Hs.664696;Hs.664697;Hs.664698;Hs.664699;Hs.664700;Hs.664701;Hs.664703;Hs.664704;Hs.664705;Hs.664706 17q21.32 142965

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A G 3-UTRSNV . c.753+1173T>C 17 46652914 HC C - 5-UTRDeletion . c.1-1587delG 17 46657268 BLCA C A Missense p.L223F c.669G>T 17 46654171 BLCA C G Missense p.E194Q c.580G>C 17 46654260 BLCA C T 5-UTRSNV . c.1-1580G>A 17 46657261 CM C T Missense p.A135T c.403G>A 17 46655279 OV C T Missense p.R229H c.686G>A 17 46654154 RCCC C T Synonymous p.Q205Q c.615G>A 17 46654225 CM C T Synonymous p.T170T c.510G>A 17 46654330 STAD G A Missense p.A112V c.335C>T 17 46655347 ESCA G A Missense p.P244S c.730C>T 17 46654110 BLCA G A Missense p.P91S c.271C>T 17 46655411 CLL G A Synonymous p.N125N c.375C>T 17 46655307 CM G A Synonymous p.S26S c.78C>T 17 46655604 CM G C 5-UTRSNV . c.1-1621C>G 17 46657302 LUSC GC AA MultiAAMissense p.E203_R204delinsDC c.609_610delinsTT 17 46654230 ESCA G C Missense p.I206M c.618C>G 17 46654222 HNSC G C Synonymous p.P224P c.672C>G 17 46654168 RCCC G - Frameshift p.N225Tfs*44 c.672delC 17 46654168 LUAD G T Missense p.P119Q c.356C>A 17 46655326 LUAD G T Missense p.P241H c.722C>A 17 46654118 LUAD T C 5-UTRSNV . c.1-1178A>G 17 46656859 HC TCT - 5-UTRDeletion . c.1-1629_1-1627delAGA 17 46657308 UCEC