Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BRCA-EU 5 172063747 172063747 single base substitution T C upstream_gene_variant BRCA-EU 5 172063784 172063784 single base substitution G T upstream_gene_variant BRCA-EU 5 172064671 172064671 single base substitution C A upstream_gene_variant BRCA-EU 5 172064856 172064856 single base substitution C G upstream_gene_variant BRCA-EU 5 172064990 172064990 single base substitution A G upstream_gene_variant BRCA-EU 5 172065435 172065435 single base substitution G C upstream_gene_variant BRCA-EU 5 172065731 172065731 single base substitution C T upstream_gene_variant BRCA-EU 5 172066522 172066522 single base substitution G C upstream_gene_variant BRCA-EU 5 172066768 172066768 single base substitution G C upstream_gene_variant BRCA-EU 5 172067723 172067723 single base substitution T A upstream_gene_variant BRCA-EU 5 172069921 172069921 single base substitution G A intron_variant BRCA-EU 5 172072414 172072414 single base substitution C G intron_variant BRCA-EU 5 172072684 172072684 single base substitution C G intron_variant BRCA-EU 5 172075050 172075050 single base substitution C T intron_variant BRCA-EU 5 172075773 172075773 single base substitution C T intron_variant BRCA-EU 5 172075775 172075775 single base substitution C T intron_variant BRCA-EU 5 172078850 172078850 single base substitution C T intron_variant BRCA-EU 5 172080820 172080831 deletion of <=200bp TTCTTGCGTAAA - intron_variant BRCA-EU 5 172083665 172083665 single base substitution A G intron_variant BRCA-EU 5 172084130 172084130 single base substitution G T intron_variant BRCA-EU 5 172087351 172087351 single base substitution A G intron_variant BRCA-EU 5 172088031 172088031 single base substitution G A intron_variant BRCA-EU 5 172089134 172089134 single base substitution G C intron_variant BRCA-EU 5 172090136 172090136 single base substitution G T intron_variant BRCA-EU 5 172092684 172092684 single base substitution C T intron_variant BRCA-EU 5 172092867 172092867 single base substitution C G intron_variant BRCA-EU 5 172093447 172093447 single base substitution C G intron_variant BRCA-EU 5 172094376 172094376 single base substitution G C intron_variant BRCA-EU 5 172094818 172094818 single base substitution T G intron_variant BRCA-EU 5 172095640 172095640 single base substitution G T intron_variant BRCA-EU 5 172099150 172099150 single base substitution T A intron_variant BRCA-EU 5 172100170 172100170 single base substitution C T intron_variant BRCA-EU 5 172100314 172100314 deletion of <=200bp A - intron_variant BRCA-EU 5 172101100 172101100 single base substitution A G intron_variant BRCA-EU 5 172101866 172101866 single base substitution C T intron_variant BRCA-EU 5 172101903 172101903 single base substitution C G intron_variant BRCA-EU 5 172102401 172102401 single base substitution A T intron_variant BRCA-EU 5 172103031 172103034 deletion of <=200bp TGCC - intron_variant BRCA-EU 5 172103144 172103144 single base substitution G C intron_variant BRCA-EU 5 172103864 172103864 single base substitution T A intron_variant BRCA-EU 5 172104372 172104372 single base substitution C T intron_variant BRCA-EU 5 172104607 172104607 single base substitution A T intron_variant BRCA-EU 5 172106756 172106756 single base substitution T C intron_variant BRCA-EU 5 172110251 172110251 insertion of <=200bp - A intron_variant BRCA-EU 5 172110578 172110578 single base substitution G A intron_variant BRCA-EU 5 172110578 172110578 single base substitution G A missense_variant R245H 734G>A BRCA-EU 5 172110578 172110578 single base substitution G A missense_variant R63H 188G>A BRCA-EU 5 172111842 172111842 single base substitution G A intron_variant BRCA-EU 5 172111873 172111873 single base substitution A C intron_variant BRCA-EU 5 172112685 172112685 insertion of <=200bp - A intron_variant BRCA-EU 5 172114069 172114069 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 172114069 172114069 single base substitution G A downstream_gene_variant BRCA-EU 5 172114303 172114303 single base substitution A T 3_prime_UTR_variant BRCA-EU 5 172114303 172114303 single base substitution A T downstream_gene_variant BRCA-EU 5 172114372 172114372 single base substitution A G 3_prime_UTR_variant BRCA-EU 5 172114372 172114372 single base substitution A G downstream_gene_variant BRCA-EU 5 172117563 172117563 single base substitution G C 3_prime_UTR_variant BRCA-EU 5 172117563 172117563 single base substitution G C downstream_gene_variant BRCA-EU 5 172118218 172118218 single base substitution G A 3_prime_UTR_variant BRCA-EU 5 172118218 172118218 single base substitution G A downstream_gene_variant BRCA-EU 5 172118906 172118906 single base substitution A G downstream_gene_variant BRCA-EU 5 172119946 172119946 single base substitution G C downstream_gene_variant BRCA-EU 5 172120527 172120527 single base substitution G T downstream_gene_variant BRCA-EU 5 172121093 172121093 deletion of <=200bp A - downstream_gene_variant BRCA-EU 5 172121857 172121857 single base substitution C G downstream_gene_variant BRCA-EU 5 172123421 172123421 single base substitution G A downstream_gene_variant BRCA-FR 5 172064488 172064488 single base substitution C G upstream_gene_variant BRCA-FR 5 172067723 172067723 single base substitution T A upstream_gene_variant BRCA-FR 5 172075773 172075773 single base substitution C T intron_variant BRCA-FR 5 172075775 172075775 single base substitution C T intron_variant BRCA-FR 5 172076035 172076035 single base substitution G T intron_variant BRCA-FR 5 172076205 172076205 single base substitution G A intron_variant BRCA-FR 5 172076699 172076699 single base substitution C T intron_variant BRCA-FR 5 172092684 172092684 single base substitution C T intron_variant BRCA-FR 5 172110516 172110516 single base substitution C T intron_variant BRCA-FR 5 172110516 172110516 single base substitution C T synonymous_variant F224F 672C>T BRCA-FR 5 172110516 172110516 single base substitution C T synonymous_variant F42F 126C>T BRCA-FR 5 172111842 172111842 single base substitution G A intron_variant BRCA-FR 5 172114069 172114069 single base substitution G A 3_prime_UTR_variant BRCA-FR 5 172114069 172114069 single base substitution G A downstream_gene_variant BRCA-FR 5 172117563 172117563 single base substitution G C 3_prime_UTR_variant BRCA-FR 5 172117563 172117563 single base substitution G C downstream_gene_variant BRCA-UK 5 172066522 172066522 single base substitution G C upstream_gene_variant BRCA-UK 5 172066768 172066768 single base substitution G C upstream_gene_variant BRCA-UK 5 172107133 172107133 single base substitution C T intron_variant BRCA-UK 5 172118906 172118906 single base substitution A G downstream_gene_variant BTCA-JP 5 172097347 172097347 single base substitution G A intron_variant BTCA-JP 5 172097384 172097384 single base substitution G A intron_variant BTCA-JP 5 172110985 172110985 single base substitution G A intron_variant BTCA-JP 5 172110985 172110985 single base substitution G A missense_variant G199S 595G>A BTCA-JP 5 172110985 172110985 single base substitution G A missense_variant G381S 1141G>A BTCA-JP 5 172113709 172113709 deletion of <=200bp C - frameshift_variant S243 BTCA-JP 5 172113709 172113709 deletion of <=200bp C - frameshift_variant S301 BTCA-JP 5 172113709 172113709 deletion of <=200bp C - frameshift_variant S483 CLLE-ES 5 172068079 172068079 single base substitution G T upstream_gene_variant CLLE-ES 5 172074935 172074935 single base substitution C T intron_variant CLLE-ES 5 172080836 172080836 single base substitution C T intron_variant CLLE-ES 5 172091143 172091143 single base substitution T C intron_variant CLLE-ES 5 172098597 172098597 single base substitution G C intron_variant COAD-US 5 172113235 172113235 single base substitution C T synonymous_variant D213D 639C>T COAD-US 5 172113235 172113235 single base substitution C T synonymous_variant D271D 813C>T COAD-US 5 172113235 172113235 single base substitution C T synonymous_variant D453D 1359C>T COAD-US 5 172113803 172113803 single base substitution A G missense_variant I275V 823A>G COAD-US 5 172113803 172113803 single base substitution A G missense_variant I333V 997A>G COAD-US 5 172113803 172113803 single base substitution A G missense_variant I515V 1543A>G COCA-CN 5 172082827 172082827 single base substitution C T intron_variant COCA-CN 5 172086032 172086032 single base substitution T C intron_variant COCA-CN 5 172090542 172090542 single base substitution A G intron_variant COCA-CN 5 172094201 172094201 single base substitution G A intron_variant COCA-CN 5 172094341 172094341 single base substitution C T intron_variant COCA-CN 5 172105633 172105633 single base substitution C A intron_variant COCA-CN 5 172118627 172118627 single base substitution A T downstream_gene_variant EOPC-DE 5 172063551 172063551 single base substitution A G upstream_gene_variant ESAD-UK 5 172063667 172063667 single base substitution G A upstream_gene_variant ESAD-UK 5 172066587 172066587 single base substitution C A upstream_gene_variant ESAD-UK 5 172068444 172068444 single base substitution C T intron_variant ESAD-UK 5 172070463 172070463 single base substitution C T intron_variant ESAD-UK 5 172073236 172073236 single base substitution C T intron_variant ESAD-UK 5 172073448 172073448 single base substitution C A intron_variant ESAD-UK 5 172075050 172075050 single base substitution C T intron_variant ESAD-UK 5 172077448 172077448 single base substitution G A intron_variant ESAD-UK 5 172080854 172080854 single base substitution T C intron_variant ESAD-UK 5 172081249 172081249 single base substitution G A intron_variant ESAD-UK 5 172081765 172081765 single base substitution C T intron_variant ESAD-UK 5 172082111 172082111 single base substitution C T intron_variant ESAD-UK 5 172082916 172082916 single base substitution C T intron_variant ESAD-UK 5 172083906 172083906 single base substitution T A intron_variant ESAD-UK 5 172084157 172084157 single base substitution G A intron_variant ESAD-UK 5 172084298 172084298 single base substitution T C intron_variant ESAD-UK 5 172085091 172085091 insertion of <=200bp - C intron_variant ESAD-UK 5 172089294 172089294 single base substitution C T intron_variant ESAD-UK 5 172089366 172089366 single base substitution G A intron_variant ESAD-UK 5 172090193 172090193 single base substitution G A intron_variant ESAD-UK 5 172093288 172093288 single base substitution T C intron_variant ESAD-UK 5 172096323 172096323 single base substitution G A intron_variant ESAD-UK 5 172097013 172097013 single base substitution T C intron_variant ESAD-UK 5 172097013 172097013 single base substitution T C missense_variant L86P 257T>C ESAD-UK 5 172097204 172097204 single base substitution C T intron_variant ESAD-UK 5 172097204 172097204 single base substitution C T missense_variant R150C 448C>T ESAD-UK 5 172103993 172103993 single base substitution A T intron_variant ESAD-UK 5 172104686 172104686 single base substitution G A intron_variant ESAD-UK 5 172107178 172107178 single base substitution T G intron_variant ESAD-UK 5 172107995 172107995 single base substitution G T intron_variant ESAD-UK 5 172110158 172110158 single base substitution G A intron_variant ESAD-UK 5 172110585 172110585 single base substitution G A intron_variant ESAD-UK 5 172110585 172110585 single base substitution G A synonymous_variant P247P 741G>A ESAD-UK 5 172110585 172110585 single base substitution G A synonymous_variant P65P 195G>A ESAD-UK 5 172112725 172112725 single base substitution G A intron_variant ESAD-UK 5 172112841 172112841 single base substitution G A intron_variant ESAD-UK 5 172117977 172117977 single base substitution G A 3_prime_UTR_variant ESAD-UK 5 172117977 172117977 single base substitution G A downstream_gene_variant ESAD-UK 5 172119834 172119834 single base substitution A T downstream_gene_variant ESAD-UK 5 172120876 172120876 single base substitution C T downstream_gene_variant LAML-KR 5 172083781 172083781 single base substitution G T intron_variant LICA-FR 5 172077642 172077642 single base substitution A G intron_variant LICA-FR 5 172077700 172077700 single base substitution G A intron_variant LICA-FR 5 172077871 172077871 single base substitution A T intron_variant LICA-FR 5 172077922 172077922 single base substitution G T intron_variant LICA-FR 5 172102625 172102625 insertion of <=200bp - CTCCCTTCC intron_variant LICA-FR 5 172110896 172110896 single base substitution G A intron_variant LICA-FR 5 172110896 172110896 single base substitution G A missense_variant R169Q 506G>A LICA-FR 5 172110896 172110896 single base substitution G A missense_variant R351Q 1052G>A LICA-FR 5 172119483 172119484 deletion of <=200bp AA - downstream_gene_variant LIHC-US 5 172097160 172097160 single base substitution A T intron_variant LIHC-US 5 172097160 172097160 single base substitution A T missense_variant E135V 404A>T LINC-JP 5 172066046 172066046 single base substitution G A upstream_gene_variant LINC-JP 5 172097351 172097351 single base substitution C T intron_variant LINC-JP 5 172097592 172097592 single base substitution G A intron_variant LINC-JP 5 172102637 172102637 insertion of <=200bp - CC intron_variant LINC-JP 5 172110427 172110427 single base substitution G T intron_variant LINC-JP 5 172110427 172110427 single base substitution G T missense_variant A13S 37G>T LINC-JP 5 172110427 172110427 single base substitution G T missense_variant A195S 583G>T LINC-JP 5 172111104 172111104 single base substitution C T intron_variant LINC-JP 5 172111104 172111104 single base substitution C T synonymous_variant A238A 714C>T LINC-JP 5 172111104 172111104 single base substitution C T synonymous_variant A420A 1260C>T LINC-JP 5 172111591 172111591 single base substitution G C intron_variant LINC-JP 5 172111743 172111743 single base substitution G C intron_variant LINC-JP 5 172113837 172113837 single base substitution G A missense_variant S286N 857G>A LINC-JP 5 172113837 172113837 single base substitution G A missense_variant S344N 1031G>A LINC-JP 5 172113837 172113837 single base substitution G A missense_variant S526N 1577G>A LINC-JP 5 172116954 172116954 single base substitution G A 3_prime_UTR_variant LINC-JP 5 172116954 172116954 single base substitution G A downstream_gene_variant LIRI-JP 5 172063641 172063641 single base substitution T C upstream_gene_variant LIRI-JP 5 172066279 172066279 single base substitution G A upstream_gene_variant LIRI-JP 5 172066540 172066540 single base substitution T C upstream_gene_variant LIRI-JP 5 172066674 172066674 single base substitution A G upstream_gene_variant LIRI-JP 5 172070103 172070103 single base substitution C T intron_variant LIRI-JP 5 172071261 172071261 single base substitution A G intron_variant LIRI-JP 5 172071452 172071452 single base substitution C T intron_variant LIRI-JP 5 172071512 172071512 single base substitution G T intron_variant LIRI-JP 5 172078324 172078324 single base substitution C A intron_variant LIRI-JP 5 172080237 172080237 single base substitution G A intron_variant LIRI-JP 5 172081925 172081925 single base substitution A G intron_variant LIRI-JP 5 172083489 172083489 single base substitution A T intron_variant LIRI-JP 5 172083710 172083710 single base substitution C A intron_variant LIRI-JP 5 172085014 172085014 single base substitution G C intron_variant LIRI-JP 5 172087231 172087231 single base substitution G A intron_variant LIRI-JP 5 172087791 172087791 single base substitution C G intron_variant LIRI-JP 5 172098182 172098182 single base substitution G T intron_variant LIRI-JP 5 172100087 172100087 single base substitution G T intron_variant LIRI-JP 5 172106450 172106450 single base substitution C A intron_variant LIRI-JP 5 172107702 172107702 single base substitution A G intron_variant LIRI-JP 5 172112904 172112904 single base substitution C T intron_variant LIRI-JP 5 172113307 172113307 single base substitution A T splice_region_variant LIRI-JP 5 172113577 172113577 single base substitution A G intron_variant LIRI-JP 5 172119352 172119352 single base substitution C T downstream_gene_variant LIRI-JP 5 172121372 172121372 single base substitution G A downstream_gene_variant LIRI-JP 5 172121638 172121641 deletion of <=200bp TCCT - downstream_gene_variant LIRI-JP 5 172122437 172122437 single base substitution A G downstream_gene_variant LUSC-KR 5 172063396 172063396 single base substitution G C upstream_gene_variant LUSC-KR 5 172075877 172075877 single base substitution G A intron_variant LUSC-KR 5 172086004 172086004 single base substitution G T intron_variant LUSC-KR 5 172115752 172115752 single base substitution T A 3_prime_UTR_variant LUSC-KR 5 172115752 172115752 single base substitution T A downstream_gene_variant LUSC-KR 5 172115967 172115967 single base substitution G T 3_prime_UTR_variant LUSC-KR 5 172115967 172115967 single base substitution G T downstream_gene_variant LUSC-KR 5 172116298 172116298 single base substitution G C 3_prime_UTR_variant LUSC-KR 5 172116298 172116298 single base substitution G C downstream_gene_variant LUSC-KR 5 172117337 172117337 single base substitution G C 3_prime_UTR_variant LUSC-KR 5 172117337 172117337 single base substitution G C downstream_gene_variant LUSC-KR 5 172117462 172117462 single base substitution C G 3_prime_UTR_variant LUSC-KR 5 172117462 172117462 single base substitution C G downstream_gene_variant MALY-DE 5 172065810 172065810 single base substitution G C upstream_gene_variant MALY-DE 5 172068055 172068055 single base substitution C T upstream_gene_variant MALY-DE 5 172071483 172071483 single base substitution G T intron_variant MALY-DE 5 172073263 172073263 single base substitution G C intron_variant MALY-DE 5 172081607 172081607 single base substitution T G intron_variant MALY-DE 5 172081684 172081684 single base substitution G A intron_variant MALY-DE 5 172092490 172092490 single base substitution G T intron_variant MALY-DE 5 172092954 172092954 single base substitution G T intron_variant MALY-DE 5 172100510 172100510 single base substitution C A intron_variant MALY-DE 5 172105633 172105633 single base substitution C A intron_variant MALY-DE 5 172119979 172119979 single base substitution G T downstream_gene_variant MALY-DE 5 172122465 172122465 single base substitution T C downstream_gene_variant MELA-AU 5 172063334 172063334 single base substitution C G upstream_gene_variant MELA-AU 5 172063625 172063625 single base substitution C T upstream_gene_variant MELA-AU 5 172063933 172063933 single base substitution G A upstream_gene_variant MELA-AU 5 172064171 172064171 single base substitution G A upstream_gene_variant MELA-AU 5 172064256 172064256 single base substitution C T upstream_gene_variant MELA-AU 5 172064944 172064944 single base substitution G A upstream_gene_variant MELA-AU 5 172065100 172065100 single base substitution C T upstream_gene_variant MELA-AU 5 172065259 172065259 single base substitution G A upstream_gene_variant MELA-AU 5 172065890 172065890 single base substitution C T upstream_gene_variant MELA-AU 5 172065899 172065899 single base substitution C T upstream_gene_variant MELA-AU 5 172066027 172066027 single base substitution G C upstream_gene_variant MELA-AU 5 172066208 172066208 single base substitution C T upstream_gene_variant MELA-AU 5 172066611 172066611 single base substitution C T upstream_gene_variant MELA-AU 5 172067142 172067142 single base substitution C T upstream_gene_variant MELA-AU 5 172067179 172067179 single base substitution G A upstream_gene_variant MELA-AU 5 172068880 172068880 single base substitution G A intron_variant MELA-AU 5 172070079 172070079 single base substitution A T intron_variant MELA-AU 5 172070587 172070587 single base substitution G A intron_variant MELA-AU 5 172070835 172070835 single base substitution C T intron_variant MELA-AU 5 172072054 172072054 single base substitution C T intron_variant MELA-AU 5 172072117 172072117 single base substitution C T intron_variant MELA-AU 5 172072272 172072272 single base substitution C T intron_variant MELA-AU 5 172072469 172072470 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 172072493 172072493 single base substitution C T intron_variant MELA-AU 5 172072494 172072494 single base substitution C T intron_variant MELA-AU 5 172072582 172072582 single base substitution G T intron_variant MELA-AU 5 172072602 172072602 single base substitution C T intron_variant MELA-AU 5 172072883 172072883 single base substitution C T intron_variant MELA-AU 5 172073098 172073098 single base substitution G A intron_variant MELA-AU 5 172073510 172073510 single base substitution C T intron_variant MELA-AU 5 172073539 172073539 single base substitution C T intron_variant MELA-AU 5 172074214 172074214 single base substitution G A intron_variant MELA-AU 5 172074357 172074357 single base substitution T C intron_variant MELA-AU 5 172074518 172074518 single base substitution C T intron_variant MELA-AU 5 172074787 172074787 single base substitution G A intron_variant MELA-AU 5 172074967 172074967 single base substitution C T intron_variant MELA-AU 5 172075350 172075350 single base substitution G A intron_variant MELA-AU 5 172075463 172075463 single base substitution C T intron_variant MELA-AU 5 172076549 172076549 single base substitution G C intron_variant MELA-AU 5 172077391 172077391 single base substitution G T intron_variant MELA-AU 5 172077451 172077451 single base substitution C A intron_variant MELA-AU 5 172077541 172077541 single base substitution C T intron_variant MELA-AU 5 172077766 172077766 single base substitution C T intron_variant MELA-AU 5 172078524 172078524 single base substitution C T intron_variant MELA-AU 5 172079528 172079528 single base substitution C T intron_variant MELA-AU 5 172079631 172079631 single base substitution G A intron_variant MELA-AU 5 172079753 172079753 single base substitution C T intron_variant MELA-AU 5 172079756 172079756 single base substitution C T intron_variant MELA-AU 5 172080611 172080611 single base substitution C T intron_variant MELA-AU 5 172080668 172080668 single base substitution A G intron_variant MELA-AU 5 172080742 172080742 single base substitution C T intron_variant MELA-AU 5 172082019 172082019 single base substitution C T intron_variant MELA-AU 5 172082185 172082185 single base substitution C T intron_variant MELA-AU 5 172082221 172082221 single base substitution C T intron_variant MELA-AU 5 172082304 172082305 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 172082326 172082326 single base substitution C T intron_variant MELA-AU 5 172082343 172082343 single base substitution C T intron_variant MELA-AU 5 172082349 172082350 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 172082420 172082420 single base substitution G A intron_variant MELA-AU 5 172082919 172082919 single base substitution T G intron_variant MELA-AU 5 172082989 172082989 single base substitution G A intron_variant MELA-AU 5 172083318 172083318 single base substitution C T intron_variant MELA-AU 5 172083339 172083339 single base substitution G A intron_variant MELA-AU 5 172083354 172083354 single base substitution T G intron_variant MELA-AU 5 172083426 172083426 single base substitution C T intron_variant MELA-AU 5 172083597 172083597 single base substitution G T intron_variant MELA-AU 5 172083993 172083993 single base substitution C T intron_variant MELA-AU 5 172084088 172084088 single base substitution G A intron_variant MELA-AU 5 172084714 172084715 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 172085092 172085092 single base substitution C T intron_variant MELA-AU 5 172085135 172085135 single base substitution C T intron_variant MELA-AU 5 172085243 172085243 single base substitution C T intron_variant MELA-AU 5 172085281 172085281 single base substitution G A intron_variant MELA-AU 5 172085375 172085375 single base substitution C T intron_variant MELA-AU 5 172085737 172085737 single base substitution C T intron_variant MELA-AU 5 172085742 172085742 single base substitution G A intron_variant MELA-AU 5 172085745 172085745 single base substitution G C intron_variant MELA-AU 5 172085788 172085788 single base substitution C T intron_variant MELA-AU 5 172085810 172085810 single base substitution G A intron_variant MELA-AU 5 172085820 172085820 single base substitution C A intron_variant MELA-AU 5 172085880 172085880 single base substitution G A intron_variant MELA-AU 5 172085960 172085960 single base substitution C T intron_variant MELA-AU 5 172086938 172086938 single base substitution C T intron_variant MELA-AU 5 172086982 172086982 single base substitution C T intron_variant MELA-AU 5 172087001 172087001 single base substitution C T intron_variant MELA-AU 5 172087162 172087162 single base substitution C T intron_variant MELA-AU 5 172088670 172088670 single base substitution C T intron_variant MELA-AU 5 172088830 172088830 single base substitution G A intron_variant MELA-AU 5 172090572 172090572 single base substitution C T intron_variant MELA-AU 5 172091523 172091523 single base substitution C T intron_variant MELA-AU 5 172091778 172091778 single base substitution G A intron_variant MELA-AU 5 172091972 172091972 single base substitution C T intron_variant MELA-AU 5 172091973 172091973 single base substitution C T intron_variant MELA-AU 5 172092209 172092210 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 172092631 172092631 single base substitution C T intron_variant MELA-AU 5 172092783 172092783 single base substitution C T intron_variant MELA-AU 5 172092809 172092809 single base substitution C T intron_variant MELA-AU 5 172092818 172092818 single base substitution C T intron_variant MELA-AU 5 172092825 172092825 single base substitution G A intron_variant MELA-AU 5 172093073 172093073 single base substitution C T intron_variant MELA-AU 5 172093178 172093178 single base substitution A C intron_variant MELA-AU 5 172093387 172093387 single base substitution G A intron_variant MELA-AU 5 172093816 172093816 single base substitution C T intron_variant MELA-AU 5 172094013 172094013 single base substitution C T intron_variant MELA-AU 5 172094150 172094150 single base substitution C T intron_variant MELA-AU 5 172094594 172094594 single base substitution A T intron_variant MELA-AU 5 172094620 172094620 single base substitution C T intron_variant MELA-AU 5 172095090 172095090 single base substitution C A intron_variant MELA-AU 5 172095139 172095139 single base substitution C T intron_variant MELA-AU 5 172095350 172095351 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 172095503 172095503 single base substitution C T intron_variant MELA-AU 5 172095805 172095805 single base substitution G A intron_variant MELA-AU 5 172096461 172096461 single base substitution G A intron_variant MELA-AU 5 172096683 172096683 single base substitution C T intron_variant MELA-AU 5 172096843 172096843 single base substitution C T intron_variant MELA-AU 5 172096843 172096843 single base substitution C T synonymous_variant P29P 87C>T MELA-AU 5 172096858 172096858 single base substitution C A intron_variant MELA-AU 5 172096858 172096858 single base substitution C A synonymous_variant V34V 102C>A MELA-AU 5 172096980 172096981 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 172096980 172096981 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant P75L 224CC>TT MELA-AU 5 172097255 172097255 single base substitution C T intron_variant MELA-AU 5 172097255 172097255 single base substitution C T missense_variant H167Y 499C>T MELA-AU 5 172098036 172098037 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 5 172098213 172098213 single base substitution C T intron_variant MELA-AU 5 172099301 172099301 single base substitution G A intron_variant MELA-AU 5 172099915 172099915 single base substitution G A intron_variant MELA-AU 5 172100487 172100487 single base substitution C T intron_variant MELA-AU 5 172101136 172101136 single base substitution C T intron_variant MELA-AU 5 172101601 172101601 single base substitution G T intron_variant MELA-AU 5 172102488 172102488 single base substitution C T intron_variant MELA-AU 5 172102500 172102500 single base substitution G A intron_variant MELA-AU 5 172102639 172102639 single base substitution C T intron_variant MELA-AU 5 172102809 172102809 single base substitution G A intron_variant MELA-AU 5 172102812 172102812 single base substitution T C intron_variant MELA-AU 5 172102919 172102919 single base substitution C T intron_variant MELA-AU 5 172102920 172102920 single base substitution C T intron_variant MELA-AU 5 172102966 172102966 single base substitution G A intron_variant MELA-AU 5 172103113 172103113 single base substitution C T intron_variant MELA-AU 5 172103423 172103423 single base substitution C T intron_variant MELA-AU 5 172103478 172103478 single base substitution C T intron_variant MELA-AU 5 172103542 172103542 single base substitution C T intron_variant MELA-AU 5 172103582 172103582 single base substitution C T intron_variant MELA-AU 5 172104243 172104243 single base substitution C T intron_variant MELA-AU 5 172104466 172104466 single base substitution G A intron_variant MELA-AU 5 172104504 172104504 single base substitution C A intron_variant MELA-AU 5 172104667 172104667 single base substitution C T intron_variant MELA-AU 5 172104679 172104679 single base substitution C T intron_variant MELA-AU 5 172105193 172105193 single base substitution C T intron_variant MELA-AU 5 172105466 172105466 single base substitution G A intron_variant MELA-AU 5 172105515 172105515 single base substitution G T intron_variant MELA-AU 5 172105680 172105680 single base substitution T C intron_variant MELA-AU 5 172106140 172106140 single base substitution C T intron_variant MELA-AU 5 172106202 172106203 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 5 172106881 172106881 single base substitution C T intron_variant MELA-AU 5 172109461 172109461 single base substitution C T intron_variant MELA-AU 5 172109878 172109878 single base substitution C T intron_variant MELA-AU 5 172109972 172109972 single base substitution T A intron_variant MELA-AU 5 172110047 172110047 single base substitution G A intron_variant MELA-AU 5 172110283 172110283 single base substitution C T intron_variant MELA-AU 5 172110323 172110323 single base substitution G A intron_variant MELA-AU 5 172110406 172110406 single base substitution C T intron_variant MELA-AU 5 172111269 172111269 single base substitution T C intron_variant MELA-AU 5 172111590 172111590 single base substitution C T intron_variant MELA-AU 5 172112020 172112020 single base substitution C T intron_variant MELA-AU 5 172112363 172112363 single base substitution G A intron_variant MELA-AU 5 172112398 172112398 single base substitution C G intron_variant MELA-AU 5 172112505 172112505 single base substitution G A intron_variant MELA-AU 5 172112641 172112641 single base substitution G A intron_variant MELA-AU 5 172112650 172112650 single base substitution G A intron_variant MELA-AU 5 172113147 172113147 single base substitution C T intron_variant MELA-AU 5 172113248 172113248 single base substitution G A missense_variant D218N 652G>A MELA-AU 5 172113248 172113248 single base substitution G A missense_variant D276N 826G>A MELA-AU 5 172113248 172113248 single base substitution G A missense_variant D458N 1372G>A MELA-AU 5 172113299 172113299 single base substitution G A missense_variant V235M 703G>A MELA-AU 5 172113299 172113299 single base substitution G A missense_variant V293M 877G>A MELA-AU 5 172113299 172113299 single base substitution G A missense_variant V475M 1423G>A MELA-AU 5 172113420 172113420 single base substitution C T intron_variant MELA-AU 5 172113673 172113673 single base substitution C T intron_variant MELA-AU 5 172113729 172113729 single base substitution T A missense_variant F250Y 749T>A MELA-AU 5 172113729 172113729 single base substitution T A missense_variant F308Y 923T>A MELA-AU 5 172113729 172113729 single base substitution T A missense_variant F490Y 1469T>A MELA-AU 5 172113732 172113732 single base substitution C T missense_variant S251F 752C>T MELA-AU 5 172113732 172113732 single base substitution C T missense_variant S309F 926C>T MELA-AU 5 172113732 172113732 single base substitution C T missense_variant S491F 1472C>T MELA-AU 5 172114470 172114470 single base substitution C T 3_prime_UTR_variant MELA-AU 5 172114470 172114470 single base substitution C T downstream_gene_variant MELA-AU 5 172114564 172114564 single base substitution G A 3_prime_UTR_variant MELA-AU 5 172114564 172114564 single base substitution G A downstream_gene_variant MELA-AU 5 172114752 172114752 single base substitution T C 3_prime_UTR_variant MELA-AU 5 172114752 172114752 single base substitution T C downstream_gene_variant MELA-AU 5 172115320 172115320 single base substitution C T 3_prime_UTR_variant MELA-AU 5 172115320 172115320 single base substitution C T downstream_gene_variant MELA-AU 5 172116030 172116030 single base substitution C T 3_prime_UTR_variant MELA-AU 5 172116030 172116030 single base substitution C T downstream_gene_variant MELA-AU 5 172116128 172116128 single base substitution C T 3_prime_UTR_variant MELA-AU 5 172116128 172116128 single base substitution C T downstream_gene_variant MELA-AU 5 172116141 172116141 single base substitution C T 3_prime_UTR_variant MELA-AU 5 172116141 172116141 single base substitution C T downstream_gene_variant MELA-AU 5 172116288 172116289 multiple base substitution (>=2bp and <=200bp) GG TA 3_prime_UTR_variant MELA-AU 5 172116288 172116289 multiple base substitution (>=2bp and <=200bp) GG TA downstream_gene_variant MELA-AU 5 172116659 172116659 single base substitution G A 3_prime_UTR_variant MELA-AU 5 172116659 172116659 single base substitution G A downstream_gene_variant MELA-AU 5 172116669 172116669 single base substitution C T 3_prime_UTR_variant MELA-AU 5 172116669 172116669 single base substitution C T downstream_gene_variant MELA-AU 5 172116746 172116746 single base substitution C T 3_prime_UTR_variant MELA-AU 5 172116746 172116746 single base substitution C T downstream_gene_variant MELA-AU 5 172116786 172116786 single base substitution C T 3_prime_UTR_variant MELA-AU 5 172116786 172116786 single base substitution C T downstream_gene_variant MELA-AU 5 172116812 172116812 single base substitution C T 3_prime_UTR_variant MELA-AU 5 172116812 172116812 single base substitution C T downstream_gene_variant MELA-AU 5 172116839 172116839 single base substitution G A 3_prime_UTR_variant MELA-AU 5 172116839 172116839 single base substitution G A downstream_gene_variant MELA-AU 5 172117132 172117132 single base substitution C T 3_prime_UTR_variant MELA-AU 5 172117132 172117132 single base substitution C T downstream_gene_variant MELA-AU 5 172117250 172117250 single base substitution C T 3_prime_UTR_variant MELA-AU 5 172117250 172117250 single base substitution C T downstream_gene_variant MELA-AU 5 172117288 172117288 single base substitution C T 3_prime_UTR_variant MELA-AU 5 172117288 172117288 single base substitution C T downstream_gene_variant MELA-AU 5 172117292 172117293 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 5 172117292 172117293 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 5 172117319 172117319 single base substitution C T 3_prime_UTR_variant MELA-AU 5 172117319 172117319 single base substitution C T downstream_gene_variant MELA-AU 5 172117803 172117803 single base substitution C T 3_prime_UTR_variant MELA-AU 5 172117803 172117803 single base substitution C T downstream_gene_variant MELA-AU 5 172117914 172117914 single base substitution G A 3_prime_UTR_variant MELA-AU 5 172117914 172117914 single base substitution G A downstream_gene_variant MELA-AU 5 172117931 172117931 single base substitution C T 3_prime_UTR_variant MELA-AU 5 172117931 172117931 single base substitution C T downstream_gene_variant MELA-AU 5 172118070 172118070 single base substitution C T 3_prime_UTR_variant MELA-AU 5 172118070 172118070 single base substitution C T downstream_gene_variant MELA-AU 5 172118570 172118570 single base substitution C T downstream_gene_variant MELA-AU 5 172118604 172118604 single base substitution G A downstream_gene_variant MELA-AU 5 172119951 172119951 single base substitution G A downstream_gene_variant MELA-AU 5 172120034 172120034 single base substitution C T downstream_gene_variant MELA-AU 5 172120042 172120042 single base substitution C T downstream_gene_variant MELA-AU 5 172120353 172120353 single base substitution G A downstream_gene_variant MELA-AU 5 172120868 172120868 single base substitution C T downstream_gene_variant MELA-AU 5 172120962 172120962 single base substitution C T downstream_gene_variant MELA-AU 5 172121017 172121017 single base substitution T C downstream_gene_variant MELA-AU 5 172121444 172121444 single base substitution C T downstream_gene_variant MELA-AU 5 172121488 172121488 single base substitution G A downstream_gene_variant MELA-AU 5 172121705 172121705 single base substitution C T downstream_gene_variant MELA-AU 5 172122197 172122197 single base substitution G A downstream_gene_variant MELA-AU 5 172122747 172122747 single base substitution C T downstream_gene_variant MELA-AU 5 172122765 172122765 single base substitution C T downstream_gene_variant MELA-AU 5 172123015 172123015 single base substitution C T downstream_gene_variant MELA-AU 5 172123142 172123142 single base substitution C T downstream_gene_variant ORCA-IN 5 172081440 172081440 single base substitution G A intron_variant ORCA-IN 5 172116659 172116659 single base substitution G A 3_prime_UTR_variant ORCA-IN 5 172116659 172116659 single base substitution G A downstream_gene_variant OV-AU 5 172067084 172067084 single base substitution C T upstream_gene_variant OV-AU 5 172069905 172069905 single base substitution G C intron_variant OV-AU 5 172077203 172077203 single base substitution T C intron_variant OV-AU 5 172078189 172078189 single base substitution C G intron_variant OV-AU 5 172078821 172078821 single base substitution C A intron_variant OV-AU 5 172083767 172083767 single base substitution G C intron_variant OV-AU 5 172088072 172088072 single base substitution T G intron_variant OV-AU 5 172092765 172092765 single base substitution C T intron_variant OV-AU 5 172095430 172095430 single base substitution C A intron_variant OV-AU 5 172098258 172098258 single base substitution G C intron_variant OV-AU 5 172106003 172106003 single base substitution C T intron_variant OV-AU 5 172110766 172110766 single base substitution C T intron_variant OV-AU 5 172110766 172110766 single base substitution C T missense_variant R126C 376C>T OV-AU 5 172110766 172110766 single base substitution C T missense_variant R308C 922C>T OV-AU 5 172112615 172112615 single base substitution G A intron_variant OV-AU 5 172113280 172113280 single base substitution G A synonymous_variant S228S 684G>A OV-AU 5 172113280 172113280 single base substitution G A synonymous_variant S286S 858G>A OV-AU 5 172113280 172113280 single base substitution G A synonymous_variant S468S 1404G>A OV-AU 5 172113716 172113716 single base substitution G A missense_variant V246M 736G>A OV-AU 5 172113716 172113716 single base substitution G A missense_variant V304M 910G>A OV-AU 5 172113716 172113716 single base substitution G A missense_variant V486M 1456G>A OV-AU 5 172113844 172113844 single base substitution C G synonymous_variant G288G 864C>G OV-AU 5 172113844 172113844 single base substitution C G synonymous_variant G346G 1038C>G OV-AU 5 172113844 172113844 single base substitution C G synonymous_variant G528G 1584C>G OV-AU 5 172116472 172116472 single base substitution G A 3_prime_UTR_variant OV-AU 5 172116472 172116472 single base substitution G A downstream_gene_variant OV-AU 5 172116473 172116473 single base substitution C T 3_prime_UTR_variant OV-AU 5 172116473 172116473 single base substitution C T downstream_gene_variant OV-AU 5 172116474 172116474 single base substitution T G 3_prime_UTR_variant OV-AU 5 172116474 172116474 single base substitution T G downstream_gene_variant OV-AU 5 172118300 172118300 single base substitution G C 3_prime_UTR_variant OV-AU 5 172118300 172118300 single base substitution G C downstream_gene_variant PACA-AU 5 172065981 172065981 single base substitution C T upstream_gene_variant PACA-AU 5 172077246 172077246 single base substitution A G intron_variant PACA-AU 5 172078194 172078194 deletion of <=200bp T - intron_variant PACA-AU 5 172082859 172082859 single base substitution G A intron_variant PACA-AU 5 172083013 172083013 single base substitution G T intron_variant PACA-AU 5 172088485 172088485 single base substitution C A intron_variant PACA-AU 5 172096259 172096259 single base substitution C T intron_variant PACA-AU 5 172097837 172097837 single base substitution A G intron_variant PACA-AU 5 172098624 172098624 single base substitution C T intron_variant PACA-AU 5 172101744 172101744 single base substitution C T intron_variant PACA-AU 5 172108350 172108350 single base substitution T A intron_variant PACA-AU 5 172110736 172110736 single base substitution G A intron_variant PACA-AU 5 172110736 172110736 single base substitution G A missense_variant V116M 346G>A PACA-AU 5 172110736 172110736 single base substitution G A missense_variant V298M 892G>A PACA-AU 5 172122345 172122345 single base substitution G C downstream_gene_variant PACA-AU 5 172122613 172122613 single base substitution G A downstream_gene_variant PACA-CA 5 172066109 172066109 single base substitution T C upstream_gene_variant PACA-CA 5 172066556 172066556 deletion of <=200bp G - upstream_gene_variant PACA-CA 5 172066959 172066959 single base substitution T C upstream_gene_variant PACA-CA 5 172067239 172067239 insertion of <=200bp - A upstream_gene_variant PACA-CA 5 172076138 172076138 single base substitution T C intron_variant PACA-CA 5 172077735 172077735 single base substitution C T intron_variant PACA-CA 5 172082152 172082152 insertion of <=200bp - G intron_variant PACA-CA 5 172085158 172085158 single base substitution G A intron_variant PACA-CA 5 172085433 172085433 single base substitution G A intron_variant PACA-CA 5 172088888 172088888 single base substitution G T intron_variant PACA-CA 5 172089429 172089429 single base substitution A G intron_variant PACA-CA 5 172090670 172090670 single base substitution T G intron_variant PACA-CA 5 172096796 172096796 single base substitution C A intron_variant PACA-CA 5 172096796 172096796 single base substitution C A missense_variant P14T 40C>A PACA-CA 5 172096977 172096977 single base substitution G A intron_variant PACA-CA 5 172096977 172096977 single base substitution G A missense_variant R74Q 221G>A PACA-CA 5 172099535 172099535 single base substitution G C intron_variant PACA-CA 5 172101995 172101995 single base substitution C G intron_variant PACA-CA 5 172107708 172107708 single base substitution A G intron_variant PACA-CA 5 172113577 172113577 single base substitution A G intron_variant PACA-CA 5 172113904 172113904 single base substitution C T synonymous_variant D308D 924C>T PACA-CA 5 172113904 172113904 single base substitution C T synonymous_variant D366D 1098C>T PACA-CA 5 172113904 172113904 single base substitution C T synonymous_variant D548D 1644C>T PACA-CA 5 172120059 172120059 single base substitution G A downstream_gene_variant PAEN-AU 5 172067015 172067015 single base substitution G T upstream_gene_variant PAEN-IT 5 172071804 172071804 single base substitution T A intron_variant PAEN-IT 5 172087626 172087626 single base substitution G A intron_variant PAEN-IT 5 172097043 172097043 single base substitution C T intron_variant PAEN-IT 5 172097043 172097043 single base substitution C T missense_variant A96V 287C>T PAEN-IT 5 172120297 172120297 single base substitution C T downstream_gene_variant PBCA-DE 5 172063713 172063713 single base substitution G T upstream_gene_variant PBCA-DE 5 172077064 172077064 single base substitution G A intron_variant PBCA-DE 5 172088749 172088749 single base substitution C G intron_variant PBCA-DE 5 172110464 172110464 single base substitution A T intron_variant PBCA-DE 5 172110464 172110464 single base substitution A T missense_variant Q207L 620A>T PBCA-DE 5 172110464 172110464 single base substitution A T missense_variant Q25L 74A>T PBCA-DE 5 172113696 172113696 single base substitution G T missense_variant S239I 716G>T PBCA-DE 5 172113696 172113696 single base substitution G T missense_variant S297I 890G>T PBCA-DE 5 172113696 172113696 single base substitution G T missense_variant S479I 1436G>T PBCA-DE 5 172114302 172114303 deletion of <=200bp GA - 3_prime_UTR_variant PBCA-DE 5 172114302 172114303 deletion of <=200bp GA - downstream_gene_variant PRAD-CA 5 172066796 172066796 single base substitution G A upstream_gene_variant PRAD-CA 5 172098998 172098998 single base substitution T C intron_variant PRAD-UK 5 172068949 172068949 single base substitution C T intron_variant PRAD-UK 5 172068957 172068959 deletion of <=200bp GGT - intron_variant PRAD-UK 5 172074323 172074323 single base substitution G A intron_variant PRAD-UK 5 172098591 172098591 single base substitution A G intron_variant PRAD-UK 5 172100620 172100620 single base substitution A G intron_variant PRAD-UK 5 172111045 172111045 single base substitution C T intron_variant PRAD-UK 5 172111045 172111045 single base substitution C T missense_variant R219C 655C>T PRAD-UK 5 172111045 172111045 single base substitution C T missense_variant R401C 1201C>T RECA-EU 5 172074064 172074064 single base substitution G A intron_variant RECA-EU 5 172077713 172077713 single base substitution T C intron_variant RECA-EU 5 172086962 172086962 single base substitution G A intron_variant RECA-EU 5 172112996 172112996 single base substitution G C intron_variant RECA-EU 5 172114432 172114432 single base substitution G A 3_prime_UTR_variant RECA-EU 5 172114432 172114432 single base substitution G A downstream_gene_variant SKCA-BR 5 172068324 172068324 single base substitution A C 5_prime_UTR_variant SKCA-BR 5 172069364 172069364 single base substitution C T intron_variant SKCA-BR 5 172073312 172073312 single base substitution G A intron_variant SKCA-BR 5 172075802 172075802 single base substitution T G intron_variant SKCA-BR 5 172077004 172077004 single base substitution G A intron_variant SKCA-BR 5 172078371 172078371 single base substitution C T intron_variant SKCA-BR 5 172078563 172078563 single base substitution G T intron_variant SKCA-BR 5 172083763 172083763 single base substitution C A intron_variant SKCA-BR 5 172083797 172083797 single base substitution G A intron_variant SKCA-BR 5 172084989 172084989 single base substitution C G intron_variant SKCA-BR 5 172087515 172087515 single base substitution C T intron_variant SKCA-BR 5 172087524 172087524 single base substitution A G intron_variant SKCA-BR 5 172088970 172088970 single base substitution C T intron_variant SKCA-BR 5 172090831 172090831 insertion of <=200bp - GTTTTTT intron_variant SKCA-BR 5 172090832 172090832 insertion of <=200bp - TTTTTTATTATTATTATTATTATTA intron_variant SKCA-BR 5 172090835 172090835 single base substitution A T intron_variant SKCA-BR 5 172091064 172091064 single base substitution C T intron_variant SKCA-BR 5 172091546 172091546 single base substitution T G intron_variant SKCA-BR 5 172092499 172092499 single base substitution G C intron_variant SKCA-BR 5 172092620 172092620 single base substitution C T intron_variant SKCA-BR 5 172095855 172095855 single base substitution C T intron_variant SKCA-BR 5 172098475 172098475 single base substitution C T intron_variant SKCA-BR 5 172100086 172100086 single base substitution G A intron_variant SKCA-BR 5 172100817 172100817 insertion of <=200bp - CAA intron_variant SKCA-BR 5 172101759 172101759 single base substitution G A intron_variant SKCA-BR 5 172103337 172103337 single base substitution T A intron_variant SKCA-BR 5 172103929 172103929 single base substitution G A intron_variant SKCA-BR 5 172104667 172104667 single base substitution C T intron_variant SKCA-BR 5 172105633 172105633 single base substitution C A intron_variant SKCA-BR 5 172105944 172105944 single base substitution G C intron_variant SKCA-BR 5 172106418 172106418 single base substitution C T intron_variant SKCA-BR 5 172107003 172107003 single base substitution C T intron_variant SKCA-BR 5 172108621 172108621 single base substitution C A intron_variant SKCA-BR 5 172109338 172109338 single base substitution G A intron_variant SKCA-BR 5 172109672 172109672 single base substitution A G intron_variant SKCA-BR 5 172113673 172113673 single base substitution C T intron_variant SKCA-BR 5 172113972 172113972 single base substitution T G 3_prime_UTR_variant SKCA-BR 5 172113972 172113972 single base substitution T G downstream_gene_variant SKCA-BR 5 172116598 172116598 single base substitution G A 3_prime_UTR_variant SKCA-BR 5 172116598 172116598 single base substitution G A downstream_gene_variant SKCA-BR 5 172116845 172116845 single base substitution A G 3_prime_UTR_variant SKCA-BR 5 172116845 172116845 single base substitution A G downstream_gene_variant SKCA-BR 5 172116881 172116881 single base substitution C G 3_prime_UTR_variant SKCA-BR 5 172116881 172116881 single base substitution C G downstream_gene_variant SKCA-BR 5 172117022 172117022 single base substitution C T 3_prime_UTR_variant SKCA-BR 5 172117022 172117022 single base substitution C T downstream_gene_variant SKCA-BR 5 172119139 172119139 single base substitution G A downstream_gene_variant SKCA-BR 5 172119266 172119266 single base substitution C T downstream_gene_variant SKCA-BR 5 172119482 172119484 deletion of <=200bp TAA - downstream_gene_variant SKCA-BR 5 172121152 172121152 insertion of <=200bp - GA downstream_gene_variant SKCA-BR 5 172122668 172122668 single base substitution C T downstream_gene_variant SKCA-BR 5 172122725 172122725 single base substitution C T downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand PCSI_0048_Pa_P_526 COSM3786918 c.40C>A p.P14T Substitution - Missense 5:172669793-172669793 + 587234 COSM1217130 c.205G>A p.V69I Substitution - Missense 5:172669958-172669958 + HCC97 COSM1620056 c.1260C>T p.A420A Substitution - coding silent 5:172684101-172684101 + LP6007546-DNA_A01 COSM5952483 c.31+4C>T p.? Unknown 5:172641441-172641441 + PCSI_0083_Pa_P_526 COSM3786919 c.221G>A p.R74Q Substitution - Missense 5:172669974-172669974 + 0024_CRUK_PC_0024_T1_DNA COSM5422536 c.1201C>T p.R401C Substitution - Missense 5:172684042-172684042 + HCC91T COSM1615275 c.232G>A p.A78T Substitution - Missense 2:96500660-96500660 - SNU-175 COSM4650674 c.309G>A p.A103A Substitution - coding silent 5:172670062-172670062 + HCC2998 COSM4631791 c.1654A>G p.I552V Substitution - Missense 5:172686911-172686911 + TCGA-D1-A174-01 COSM1065864 c.1314C>T p.S438S Substitution - coding silent 5:172686187-172686187 + 2521262 COSM5891694 c.205C>T p.P69S Substitution - Missense 2:96500687-96500687 - 2492722 COSM5723810 c.52C>T p.L18F Substitution - Missense 5:172669805-172669805 + Gp5D COSM4629186 c.245T>C p.V82A Substitution - Missense 5:172669998-172669998 + PD4315a COSM5791221 c.734G>A p.R245H Substitution - Missense 5:172683575-172683575 + 2492720 COSM5723811 c.52C>T p.L18F Substitution - Missense 5:172669805-172669805 + 2492721 COSM5723811 c.52C>T p.L18F Substitution - Missense 5:172669805-172669805 + AOCS-061-1-8 COSM4141672 c.922C>T p.R308C Substitution - Missense 5:172683763-172683763 + TCGA-CC-A7IH-01 COSM4923324 c.404A>T p.E135V Substitution - Missense 5:172670157-172670157 + ATL071 COSM5709645 c.913G>A p.D305N Substitution - Missense 5:172683754-172683754 + CSCC-27-T COSM4487646 c.320C>T p.S107L Substitution - Missense 5:172670073-172670073 + TCGA-AD-5900-01 COSM1436048 c.1543A>G p.I515V Substitution - Missense 5:172686800-172686800 + C086 COSM5535340 c.1474C>T p.P492S Substitution - Missense 5:172686731-172686731 + HCC107 COSM1620059 c.1577G>A p.S526N Substitution - Missense 5:172686834-172686834 + AOCS-167-13-9 COSM4141676 c.1456G>A p.V486M Substitution - Missense 5:172686713-172686713 + 2492721 COSM5723810 c.52C>T p.L18F Substitution - Missense 5:172669805-172669805 + AOCS-137-3-7 COSM4141675 c.1404G>A p.S468S Substitution - coding silent 5:172686277-172686277 + TCGA-AM-5821-01 COSM3761110 c.1359C>T p.D453D Substitution - coding silent 5:172686232-172686232 + TCGA-C5-A1BQ-01 COSM4842476 c.96C>T p.S32S Substitution - coding silent 2:96500796-96500796 - 461 COSM4436632 c.626G>A p.R209H Substitution - Missense 5:172683467-172683467 + BD124T COSM5491969 c.1449delC p.P485fs*>71 Deletion - Frameshift 5:172686706-172686706 + 71M COSM5595927 c.1663C>T p.P555S Substitution - Missense 5:172686920-172686920 + 587234 COSM1217131 c.205G>A p.V69I Substitution - Missense 5:172669958-172669958 + PCSI_0048_Pa_P_526 COSM3786917 c.40C>A p.P14T Substitution - Missense 5:172669793-172669793 + S00825 COSM5659259 c.1122C>G p.A374A Substitution - coding silent 5:172683963-172683963 + 53M COSM4141677 c.1456G>A p.V486M Substitution - Missense 5:172686713-172686713 + 71M COSM5595928 c.1663C>T p.P555S Substitution - Missense 5:172686920-172686920 + CHC892T COSM4795876 c.1052G>A p.R351Q Substitution - Missense 5:172683893-172683893 + 938T COSM5825165 c.287C>T p.A96V Substitution - Missense 5:172670040-172670040 + LC_C21 COSM1186902 c.441G>T p.W147C Substitution - Missense 5:172670194-172670194 + RK178_C01 COSM3744780 c.1423+8A>T p.? Unknown 5:172686304-172686304 + ESCC_109 COSM5639094 c.1479G>A p.P493P Substitution - coding silent 5:172686736-172686736 + HCC97 COSM1620057 c.1260C>T p.A420A Substitution - coding silent 5:172684101-172684101 + HCC107T COSM1620059 c.1577G>A p.S526N Substitution - Missense 5:172686834-172686834 + PD4315a COSM5791222 c.734G>A p.R245H Substitution - Missense 5:172683575-172683575 + CHOL12 COSM1743890 c.96C>A p.S32R Substitution - Missense 2:96500796-96500796 - LC_C21 COSM1186903 c.441G>T p.W147C Substitution - Missense 5:172670194-172670194 + 2492723 COSM5723811 c.52C>T p.L18F Substitution - Missense 5:172669805-172669805 + TCGA-D1-A174-01 COSM1065863 c.1314C>T p.S438S Substitution - coding silent 5:172686187-172686187 + 461 COSM4436633 c.626G>A p.R209H Substitution - Missense 5:172683467-172683467 + 66 COSM5743099 c.182G>A p.R61Q Substitution - Missense 5:172669935-172669935 + Au1 COSM5597162 c.1341C>T p.S447S Substitution - coding silent 5:172686214-172686214 + 0024_CRUK_PC_0024_T1_DNA COSM5422537 c.1201C>T p.R401C Substitution - Missense 5:172684042-172684042 + TCGA-D1-A174-01 COSM1065865 c.1325C>T p.T442M Substitution - Missense 5:172686198-172686198 + C086 COSM5535339 c.1474C>T p.P492S Substitution - Missense 5:172686731-172686731 + ATL071 COSM5709644 c.913G>A p.D305N Substitution - Missense 5:172683754-172683754 + DN14010 COSM5962398 c.672C>T p.F224F Substitution - coding silent 5:172683513-172683513 + CHC892T COSM4795876 c.1052G>A p.R351Q Substitution - Missense 5:172683893-172683893 + 2492722 COSM5723811 c.52C>T p.L18F Substitution - Missense 5:172669805-172669805 + Gp5D COSM4629187 c.245T>C p.V82A Substitution - Missense 5:172669998-172669998 + HX34T COSM3747625 c.583G>T p.A195S Substitution - Missense 5:172683424-172683424 + BD176T COSM5494855 c.1141G>A p.G381S Substitution - Missense 5:172683982-172683982 + HCC97T COSM1620056 c.1260C>T p.A420A Substitution - coding silent 5:172684101-172684101 + PCSI_0300_Pa_P_526 COSM4962580 c.17C>T p.A6V Substitution - Missense 2:96500875-96500875 - HCC91 COSM1615275 c.232G>A p.A78T Substitution - Missense 2:96500660-96500660 - 66 COSM5743098 c.182G>A p.R61Q Substitution - Missense 5:172669935-172669935 + TCGA-AD-5900-01 COSM1436047 c.1543A>G p.I515V Substitution - Missense 5:172686800-172686800 + 587332 COSM1217128 c.1487C>T p.A496V Substitution - Missense 5:172686744-172686744 + LUAD-E00934 COSM393580 c.184G>C p.A62P Substitution - Missense 2:96500708-96500708 - PS-352-3D COSM4424050 c.1613_1614insC p.C539fs*13 Insertion - Frameshift 5:172686870-172686871 + CSCC-18-T COSM3786919 c.221G>A p.R74Q Substitution - Missense 5:172669974-172669974 + LUAD-2GUGK COSM400657 c.531G>T p.W177C Substitution - Missense 5:172670284-172670284 + HCC2998 COSM4631792 c.1654A>G p.I552V Substitution - Missense 5:172686911-172686911 + 8014807 COSM3393446 c.892G>A p.V298M Substitution - Missense 5:172683733-172683733 + TP_2032 COSM5567139 c.293G>A p.R98H Substitution - Missense 5:172670046-172670046 + HCC54T COSM1615276 c.9G>T p.R3S Substitution - Missense 2:96500883-96500883 - HX34T COSM3747626 c.583G>T p.A195S Substitution - Missense 5:172683424-172683424 + PCSI_0106_Pa_P COSM3786922 c.1644C>T p.D548D Substitution - coding silent 5:172686901-172686901 + CHC892T COSM4795875 c.1052G>A p.R351Q Substitution - Missense 5:172683893-172683893 + 8014807 COSM3393447 c.892G>A p.V298M Substitution - Missense 5:172683733-172683733 + BD176T COSM5494854 c.1141G>A p.G381S Substitution - Missense 5:172683982-172683982 + BD124T COSM5491968 c.1449delC p.P485fs*>71 Deletion - Frameshift 5:172686706-172686706 + AOCS-137-3-7 COSM4141674 c.1404G>A p.S468S Substitution - coding silent 5:172686277-172686277 + TP_2032 COSM5567138 c.293G>A p.R98H Substitution - Missense 5:172670046-172670046 + CHC892T COSM4795875 c.1052G>A p.R351Q Substitution - Missense 5:172683893-172683893 + TCGA-CC-A7IH-01 COSM4923325 c.404A>T p.E135V Substitution - Missense 5:172670157-172670157 + CSCC-27-T COSM4487647 c.320C>T p.S107L Substitution - Missense 5:172670073-172670073 + S00825 COSM5659258 c.1122C>G p.A374A Substitution - coding silent 5:172683963-172683963 + CSCC-18-T COSM3786920 c.221G>A p.R74Q Substitution - Missense 5:172669974-172669974 + AOCS-064-3-3 COSM4141679 c.1584C>G p.G528G Substitution - coding silent 5:172686841-172686841 + TCGA-D1-A174-01 COSM1065866 c.1325C>T p.T442M Substitution - Missense 5:172686198-172686198 + SNU-175 COSM4650675 c.309G>A p.A103A Substitution - coding silent 5:172670062-172670062 + LP6007546-DNA_A01 COSM5952484 c.31+4C>T p.? Unknown 5:172641441-172641441 + LUAD-5V8LT COSM402747 c.1267G>T p.G423C Substitution - Missense 5:172684108-172684108 + 938T COSM5825164 c.287C>T p.A96V Substitution - Missense 5:172670040-172670040 + HCC107T COSM1620058 c.1577G>A p.S526N Substitution - Missense 5:172686834-172686834 + 2492723 COSM5723810 c.52C>T p.L18F Substitution - Missense 5:172669805-172669805 + AOCS-061-1-8 COSM4141673 c.922C>T p.R308C Substitution - Missense 5:172683763-172683763 + PCSI_0083_Pa_P_526 COSM3786920 c.221G>A p.R74Q Substitution - Missense 5:172669974-172669974 + PS-352-3D COSM4424049 c.1613_1614insC p.C539fs*13 Insertion - Frameshift 5:172686870-172686871 + STC297 COSM5060943 c.1512G>A p.T504T Substitution - coding silent 5:172686769-172686769 + 53M COSM4141676 c.1456G>A p.V486M Substitution - Missense 5:172686713-172686713 + AOCS-064-3-3 COSM4141678 c.1584C>G p.G528G Substitution - coding silent 5:172686841-172686841 + HCC97T COSM1620057 c.1260C>T p.A420A Substitution - coding silent 5:172684101-172684101 + PCSI_0106_Pa_P COSM3786921 c.1644C>T p.D548D Substitution - coding silent 5:172686901-172686901 + STC297 COSM5060942 c.1512G>A p.T504T Substitution - coding silent 5:172686769-172686769 + 2492720 COSM5723810 c.52C>T p.L18F Substitution - Missense 5:172669805-172669805 + DN14010 COSM5962397 c.672C>T p.F224F Substitution - coding silent 5:172683513-172683513 + RK178_C01 COSM3744781 c.1423+8A>T p.? Unknown 5:172686304-172686304 + HCC107 COSM1620058 c.1577G>A p.S526N Substitution - Missense 5:172686834-172686834 + ESCC_109 COSM5639093 c.1479G>A p.P493P Substitution - coding silent 5:172686736-172686736 + AOCS-167-13-9 COSM4141677 c.1456G>A p.V486M Substitution - Missense 5:172686713-172686713 + 587332 COSM1217129 c.1487C>T p.A496V Substitution - Missense 5:172686744-172686744 + Au1 COSM5597163 c.1341C>T p.S447S Substitution - coding silent 5:172686214-172686214 + TCGA-AM-5821-01 COSM3761111 c.1359C>T p.D453D Substitution - coding silent 5:172686232-172686232 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.91521 5q35.1 Hs.149200;Hs.149201;Hs.149219 2q11.2

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer CTGTCTGGAGCTGGACAGCGGGGAGAACGTG - IntronicDeletion . c.31+7698_31+7728delTGTCTGGAGCTGGACAGCGGGGAGAACGTGC 5 172076137 CLL C T IntronicSNV . c.32-13107C>T 5 172083681 CM