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 1 32925760 32925760 single base substitution T A upstream_gene_variant BRCA-EU 1 32927527 32927527 single base substitution C G upstream_gene_variant BRCA-EU 1 32927887 32927887 single base substitution A T upstream_gene_variant BRCA-EU 1 32929735 32929735 single base substitution G C upstream_gene_variant BRCA-EU 1 32930786 32930786 single base substitution G C intron_variant BRCA-EU 1 32931696 32931696 single base substitution T G intron_variant BRCA-EU 1 32932424 32932424 single base substitution G A intron_variant BRCA-EU 1 32932726 32932726 single base substitution C T intron_variant BRCA-EU 1 32933609 32933609 single base substitution C T intron_variant BRCA-EU 1 32934629 32934629 deletion of <=200bp A - intron_variant BRCA-EU 1 32935400 32935400 single base substitution G T intron_variant BRCA-EU 1 32937740 32937740 single base substitution C T intron_variant BRCA-EU 1 32939192 32939192 single base substitution C G intron_variant BRCA-EU 1 32939438 32939438 single base substitution A T intron_variant BRCA-EU 1 32939785 32939785 single base substitution C T intron_variant BRCA-EU 1 32939904 32939904 single base substitution T C intron_variant BRCA-EU 1 32941767 32941767 single base substitution C A intron_variant BRCA-EU 1 32941853 32941853 single base substitution C T intron_variant BRCA-EU 1 32942624 32942624 single base substitution C A intron_variant BRCA-EU 1 32943427 32943427 single base substitution G C intron_variant BRCA-EU 1 32943679 32943679 single base substitution C G intron_variant BRCA-EU 1 32945268 32945268 single base substitution C G intron_variant BRCA-EU 1 32945407 32945407 single base substitution G A intron_variant BRCA-EU 1 32945772 32945772 single base substitution G A intron_variant BRCA-EU 1 32947741 32947756 deletion of <=200bp GCTAACGTGTTTTTTT - intron_variant BRCA-EU 1 32947757 32947757 single base substitution G T intron_variant BRCA-EU 1 32948341 32948341 single base substitution T C intron_variant BRCA-EU 1 32950313 32950313 single base substitution T C intron_variant BRCA-EU 1 32950504 32950504 single base substitution C G intron_variant BRCA-EU 1 32952623 32952623 single base substitution G T 3_prime_UTR_variant BRCA-EU 1 32953040 32953040 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 32953180 32953180 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 32954546 32954546 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 32955475 32955475 single base substitution G T 3_prime_UTR_variant BRCA-EU 1 32955521 32955521 single base substitution T C 3_prime_UTR_variant BRCA-EU 1 32956198 32956198 deletion of <=200bp T - 3_prime_UTR_variant BRCA-EU 1 32956735 32956735 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 32956911 32956911 single base substitution C A 3_prime_UTR_variant BRCA-EU 1 32959239 32959239 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 32959769 32959814 deletion of <=200bp AGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATC - 3_prime_UTR_variant BRCA-EU 1 32961264 32961264 single base substitution G A 3_prime_UTR_variant BRCA-EU 1 32961483 32961483 insertion of <=200bp - A 3_prime_UTR_variant BRCA-EU 1 32962125 32962125 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 32962455 32962455 single base substitution A T downstream_gene_variant BRCA-EU 1 32962686 32962686 deletion of <=200bp T - downstream_gene_variant BRCA-EU 1 32962927 32962927 single base substitution C T downstream_gene_variant BRCA-EU 1 32963175 32963175 single base substitution T A downstream_gene_variant BRCA-EU 1 32963492 32963492 deletion of <=200bp A - downstream_gene_variant BRCA-EU 1 32963780 32963780 single base substitution G A downstream_gene_variant BRCA-EU 1 32964330 32964330 single base substitution A G downstream_gene_variant BRCA-EU 1 32965415 32965415 single base substitution G A downstream_gene_variant BRCA-EU 1 32966824 32966824 single base substitution A T downstream_gene_variant BRCA-FR 1 32928285 32928285 single base substitution G C upstream_gene_variant BRCA-FR 1 32932424 32932424 single base substitution G A intron_variant BRCA-FR 1 32939785 32939785 single base substitution C T intron_variant BRCA-FR 1 32943427 32943427 single base substitution G C intron_variant BRCA-FR 1 32950504 32950504 single base substitution C G intron_variant BRCA-FR 1 32953730 32953730 single base substitution C T 3_prime_UTR_variant BRCA-FR 1 32959239 32959239 single base substitution G C 3_prime_UTR_variant BRCA-FR 1 32962927 32962927 single base substitution C T downstream_gene_variant BRCA-UK 1 32944925 32944925 single base substitution G C intron_variant BRCA-US 1 32937111 32937111 single base substitution G A missense_variant A296T 886G>A BRCA-US 1 32946500 32946500 single base substitution C A missense_variant L334M 1000C>A BRCA-US 1 32950879 32950879 single base substitution G C missense_variant E450Q 1348G>C BTCA-JP 1 32936580 32936580 single base substitution A T missense_variant R119W 355A>T BTCA-JP 1 32937292 32937292 single base substitution C T intron_variant CESC-US 1 32936792 32936792 single base substitution G C synonymous_variant L189L 567G>C CESC-US 1 32946572 32946572 single base substitution C T missense_variant R358W 1072C>T CLLE-ES 1 32945017 32945017 single base substitution C T intron_variant CLLE-ES 1 32953430 32953430 single base substitution C A 3_prime_UTR_variant COAD-US 1 32936550 32936550 single base substitution G T missense_variant D109Y 325G>T COAD-US 1 32936766 32936766 single base substitution G A missense_variant E181K 541G>A COAD-US 1 32937156 32937156 single base substitution G A missense_variant A311T 931G>A COAD-US 1 32946542 32946542 insertion of <=200bp - C frameshift_variant Y348L? COAD-US 1 32946573 32946573 single base substitution G A missense_variant R358Q 1073G>A COAD-US 1 32950810 32950810 single base substitution G A missense_variant V427I 1279G>A COCA-CN 1 32936672 32936672 single base substitution A G synonymous_variant A149A 447A>G EOPC-DE 1 32943183 32943183 single base substitution C A intron_variant ESAD-UK 1 32927180 32927180 single base substitution T G upstream_gene_variant ESAD-UK 1 32930908 32930908 single base substitution C T intron_variant ESAD-UK 1 32930964 32930964 single base substitution C T intron_variant ESAD-UK 1 32931324 32931324 single base substitution G A intron_variant ESAD-UK 1 32931515 32931515 single base substitution C T intron_variant ESAD-UK 1 32931580 32931580 deletion of <=200bp C - intron_variant ESAD-UK 1 32932320 32932320 single base substitution T C intron_variant ESAD-UK 1 32933047 32933047 single base substitution G A intron_variant ESAD-UK 1 32936409 32936409 single base substitution C T missense_variant R62W 184C>T ESAD-UK 1 32936766 32936766 single base substitution G T stop_gained E181* 541G>T ESAD-UK 1 32937354 32937354 single base substitution C T intron_variant ESAD-UK 1 32937356 32937356 single base substitution A G intron_variant ESAD-UK 1 32938924 32938924 single base substitution A C intron_variant ESAD-UK 1 32940844 32940844 single base substitution A G intron_variant ESAD-UK 1 32944489 32944489 insertion of <=200bp - A intron_variant ESAD-UK 1 32946350 32946350 single base substitution C T intron_variant ESAD-UK 1 32949017 32949017 single base substitution C T intron_variant ESAD-UK 1 32949198 32949198 single base substitution T C intron_variant ESAD-UK 1 32949381 32949381 single base substitution G A intron_variant ESAD-UK 1 32949451 32949451 single base substitution A G intron_variant ESAD-UK 1 32949525 32949525 single base substitution G T intron_variant ESAD-UK 1 32949539 32949539 single base substitution C T intron_variant ESAD-UK 1 32950412 32950412 single base substitution A G intron_variant ESAD-UK 1 32953577 32953577 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 32956019 32956019 single base substitution G T 3_prime_UTR_variant ESAD-UK 1 32956436 32956436 single base substitution C T 3_prime_UTR_variant ESAD-UK 1 32956864 32956864 deletion of <=200bp T - 3_prime_UTR_variant ESAD-UK 1 32957516 32957516 single base substitution C A 3_prime_UTR_variant ESAD-UK 1 32957520 32957520 single base substitution A C 3_prime_UTR_variant ESAD-UK 1 32959748 32959748 single base substitution C A 3_prime_UTR_variant ESAD-UK 1 32960460 32960460 single base substitution T C 3_prime_UTR_variant ESAD-UK 1 32960587 32960587 single base substitution A G 3_prime_UTR_variant ESAD-UK 1 32963972 32963972 single base substitution C T downstream_gene_variant ESAD-UK 1 32964482 32964482 single base substitution C T downstream_gene_variant ESAD-UK 1 32966233 32966233 single base substitution G C downstream_gene_variant ESCA-CN 1 32936128 32936128 single base substitution G A intron_variant ESCA-CN 1 32936666 32936666 single base substitution G A synonymous_variant A147A 441G>A KIRC-US 1 32936276 32936276 single base substitution G A synonymous_variant Q17Q 51G>A KIRC-US 1 32950945 32950945 single base substitution G T missense_variant D472Y 1414G>T LICA-FR 1 32931013 32931013 single base substitution C T intron_variant LICA-FR 1 32936372 32936372 single base substitution C G missense_variant F49L 147C>G LICA-FR 1 32937996 32937996 single base substitution C A intron_variant LICA-FR 1 32939114 32939115 deletion of <=200bp TT - intron_variant LICA-FR 1 32946618 32946618 single base substitution C T missense_variant T373I 1118C>T LICA-FR 1 32967016 32967016 single base substitution A T downstream_gene_variant LIHC-US 1 32950817 32950817 single base substitution A G missense_variant D429G 1286A>G LIHC-US 1 32950917 32950917 single base substitution A C synonymous_variant P462P 1386A>C LINC-JP 1 32927888 32927888 single base substitution A T upstream_gene_variant LINC-JP 1 32936100 32936100 single base substitution C A intron_variant LINC-JP 1 32951157 32951157 single base substitution C T 3_prime_UTR_variant LIRI-JP 1 32931788 32931788 single base substitution G T intron_variant LIRI-JP 1 32933869 32933869 single base substitution T C intron_variant LIRI-JP 1 32934008 32934008 single base substitution T C intron_variant LIRI-JP 1 32936421 32936421 single base substitution G A missense_variant A66T 196G>A LIRI-JP 1 32940699 32940699 single base substitution C T intron_variant LIRI-JP 1 32941081 32941081 single base substitution G C intron_variant LIRI-JP 1 32943560 32943560 single base substitution A G intron_variant LIRI-JP 1 32945967 32945967 single base substitution C A intron_variant LIRI-JP 1 32947556 32947556 single base substitution T A intron_variant LIRI-JP 1 32948022 32948022 single base substitution C T intron_variant LIRI-JP 1 32948197 32948197 single base substitution G A intron_variant LIRI-JP 1 32949943 32949943 single base substitution T A intron_variant LIRI-JP 1 32951600 32951600 single base substitution C A 3_prime_UTR_variant LIRI-JP 1 32951650 32951650 single base substitution A T 3_prime_UTR_variant LIRI-JP 1 32951742 32951742 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 32954770 32954770 single base substitution G T 3_prime_UTR_variant LIRI-JP 1 32963466 32963466 single base substitution C T downstream_gene_variant LIRI-JP 1 32965538 32965538 single base substitution A G downstream_gene_variant LUSC-KR 1 32925756 32925756 single base substitution A T upstream_gene_variant LUSC-KR 1 32931505 32931505 single base substitution G T intron_variant LUSC-KR 1 32950778 32950778 single base substitution G A missense_variant R416Q 1247G>A LUSC-KR 1 32952167 32952167 single base substitution G T 3_prime_UTR_variant LUSC-KR 1 32956559 32956559 single base substitution C T 3_prime_UTR_variant MALY-DE 1 32927688 32927688 single base substitution C G upstream_gene_variant MALY-DE 1 32929222 32929222 single base substitution T A upstream_gene_variant MALY-DE 1 32944125 32944125 single base substitution T A intron_variant MALY-DE 1 32949885 32949885 single base substitution G T intron_variant MALY-DE 1 32952146 32952146 single base substitution G A 3_prime_UTR_variant MALY-DE 1 32955321 32955321 single base substitution G A 3_prime_UTR_variant MALY-DE 1 32956437 32956437 single base substitution G A 3_prime_UTR_variant MALY-DE 1 32961494 32961494 insertion of <=200bp - T 3_prime_UTR_variant MALY-DE 1 32962755 32962755 single base substitution C A downstream_gene_variant MALY-DE 1 32964428 32964428 single base substitution C T downstream_gene_variant MALY-DE 1 32966431 32966433 deletion of <=200bp GGC - downstream_gene_variant MELA-AU 1 32925720 32925720 single base substitution G A upstream_gene_variant MELA-AU 1 32926346 32926346 single base substitution G A upstream_gene_variant MELA-AU 1 32926383 32926383 single base substitution C T upstream_gene_variant MELA-AU 1 32926430 32926430 single base substitution G A upstream_gene_variant MELA-AU 1 32926837 32926837 single base substitution C T upstream_gene_variant MELA-AU 1 32927038 32927039 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 32927305 32927305 single base substitution G A upstream_gene_variant MELA-AU 1 32927676 32927676 single base substitution G A upstream_gene_variant MELA-AU 1 32927690 32927690 single base substitution T C upstream_gene_variant MELA-AU 1 32927737 32927737 single base substitution C T upstream_gene_variant MELA-AU 1 32928133 32928133 single base substitution G A upstream_gene_variant MELA-AU 1 32928305 32928305 single base substitution C G upstream_gene_variant MELA-AU 1 32928446 32928446 single base substitution A G upstream_gene_variant MELA-AU 1 32928629 32928629 single base substitution G A upstream_gene_variant MELA-AU 1 32928720 32928720 single base substitution C T upstream_gene_variant MELA-AU 1 32928855 32928855 single base substitution C T upstream_gene_variant MELA-AU 1 32929175 32929175 single base substitution C T upstream_gene_variant MELA-AU 1 32929274 32929274 single base substitution G A upstream_gene_variant MELA-AU 1 32929421 32929421 single base substitution G A upstream_gene_variant MELA-AU 1 32929503 32929504 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 1 32930247 32930247 single base substitution G A upstream_gene_variant MELA-AU 1 32930844 32930844 single base substitution C T intron_variant MELA-AU 1 32930932 32930932 single base substitution T G intron_variant MELA-AU 1 32930986 32930986 single base substitution G A intron_variant MELA-AU 1 32931859 32931859 single base substitution C T intron_variant MELA-AU 1 32932109 32932109 single base substitution G A intron_variant MELA-AU 1 32932234 32932234 single base substitution G A intron_variant MELA-AU 1 32932480 32932480 single base substitution C T intron_variant MELA-AU 1 32932637 32932637 single base substitution A T intron_variant MELA-AU 1 32932912 32932912 single base substitution C T intron_variant MELA-AU 1 32932932 32932932 single base substitution C T intron_variant MELA-AU 1 32933001 32933001 single base substitution C T intron_variant MELA-AU 1 32933478 32933478 single base substitution C T intron_variant MELA-AU 1 32933511 32933511 single base substitution C T intron_variant MELA-AU 1 32933924 32933924 single base substitution C T intron_variant MELA-AU 1 32934153 32934154 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 32934211 32934211 single base substitution C T intron_variant MELA-AU 1 32934416 32934416 single base substitution C T intron_variant MELA-AU 1 32934570 32934570 single base substitution C T intron_variant MELA-AU 1 32934598 32934598 single base substitution C T intron_variant MELA-AU 1 32934877 32934877 single base substitution C T intron_variant MELA-AU 1 32934957 32934957 single base substitution C T intron_variant MELA-AU 1 32935199 32935199 single base substitution C T intron_variant MELA-AU 1 32935307 32935307 single base substitution C T intron_variant MELA-AU 1 32935322 32935322 single base substitution G A intron_variant MELA-AU 1 32935444 32935444 single base substitution C T intron_variant MELA-AU 1 32935596 32935596 single base substitution C T intron_variant MELA-AU 1 32935698 32935698 single base substitution C T intron_variant MELA-AU 1 32935884 32935884 single base substitution G A intron_variant MELA-AU 1 32936538 32936538 single base substitution C T synonymous_variant L105L 313C>T MELA-AU 1 32936638 32936638 single base substitution T C missense_variant V138A 413T>C MELA-AU 1 32936777 32936777 single base substitution G A synonymous_variant K184K 552G>A MELA-AU 1 32936818 32936818 single base substitution G A missense_variant G198E 593G>A MELA-AU 1 32936957 32936957 single base substitution A G synonymous_variant E244E 732A>G MELA-AU 1 32937033 32937033 single base substitution T A missense_variant L270M 808T>A MELA-AU 1 32937046 32937046 single base substitution A G missense_variant N274S 821A>G MELA-AU 1 32937104 32937104 single base substitution G A synonymous_variant K293K 879G>A MELA-AU 1 32937614 32937614 single base substitution C T intron_variant MELA-AU 1 32937683 32937683 single base substitution C T intron_variant MELA-AU 1 32937784 32937784 single base substitution T C intron_variant MELA-AU 1 32938532 32938532 single base substitution T A intron_variant MELA-AU 1 32938886 32938886 single base substitution G A intron_variant MELA-AU 1 32939318 32939318 single base substitution C T intron_variant MELA-AU 1 32939486 32939486 single base substitution C T intron_variant MELA-AU 1 32939883 32939883 single base substitution G A intron_variant MELA-AU 1 32940391 32940391 single base substitution G A intron_variant MELA-AU 1 32940397 32940397 single base substitution C T intron_variant MELA-AU 1 32940559 32940559 single base substitution G A intron_variant MELA-AU 1 32940563 32940563 single base substitution T C intron_variant MELA-AU 1 32940856 32940856 single base substitution C T intron_variant MELA-AU 1 32941290 32941291 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 32941416 32941416 single base substitution G A intron_variant MELA-AU 1 32942000 32942000 single base substitution C T intron_variant MELA-AU 1 32942595 32942595 single base substitution C T intron_variant MELA-AU 1 32943210 32943210 single base substitution C T intron_variant MELA-AU 1 32943371 32943371 single base substitution C T intron_variant MELA-AU 1 32943530 32943530 single base substitution C T intron_variant MELA-AU 1 32943591 32943591 single base substitution G A intron_variant MELA-AU 1 32943919 32943919 single base substitution C T intron_variant MELA-AU 1 32944040 32944040 single base substitution G A intron_variant MELA-AU 1 32944293 32944293 single base substitution G A intron_variant MELA-AU 1 32944396 32944396 single base substitution G A intron_variant MELA-AU 1 32944874 32944875 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 32944875 32944875 single base substitution C T intron_variant MELA-AU 1 32945093 32945093 single base substitution C T intron_variant MELA-AU 1 32945181 32945181 single base substitution C T intron_variant MELA-AU 1 32945316 32945316 single base substitution C T intron_variant MELA-AU 1 32945528 32945528 single base substitution C T intron_variant MELA-AU 1 32945711 32945711 single base substitution C T intron_variant MELA-AU 1 32945909 32945909 single base substitution G A intron_variant MELA-AU 1 32946444 32946444 single base substitution T C intron_variant MELA-AU 1 32946903 32946903 single base substitution G A intron_variant MELA-AU 1 32947031 32947031 single base substitution C T intron_variant MELA-AU 1 32947134 32947134 single base substitution C T intron_variant MELA-AU 1 32947398 32947398 single base substitution C T intron_variant MELA-AU 1 32947985 32947985 single base substitution G A intron_variant MELA-AU 1 32948827 32948827 single base substitution C T intron_variant MELA-AU 1 32948879 32948879 single base substitution A T intron_variant MELA-AU 1 32949002 32949002 single base substitution G A intron_variant MELA-AU 1 32949164 32949164 single base substitution G A intron_variant MELA-AU 1 32949375 32949375 single base substitution C T intron_variant MELA-AU 1 32949413 32949413 single base substitution C T intron_variant MELA-AU 1 32949468 32949468 single base substitution C T intron_variant MELA-AU 1 32949489 32949489 single base substitution G A intron_variant MELA-AU 1 32949692 32949692 single base substitution C T intron_variant MELA-AU 1 32949716 32949717 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 32949829 32949829 single base substitution C T intron_variant MELA-AU 1 32949939 32949939 single base substitution C T intron_variant MELA-AU 1 32950086 32950086 single base substitution G A intron_variant MELA-AU 1 32950418 32950418 single base substitution C T intron_variant MELA-AU 1 32950479 32950479 single base substitution A G intron_variant MELA-AU 1 32950602 32950602 single base substitution G A intron_variant MELA-AU 1 32950767 32950767 single base substitution C G synonymous_variant S412S 1236C>G MELA-AU 1 32951284 32951284 single base substitution C T 3_prime_UTR_variant MELA-AU 1 32951332 32951332 single base substitution A G 3_prime_UTR_variant MELA-AU 1 32951597 32951597 single base substitution G A 3_prime_UTR_variant MELA-AU 1 32951808 32951808 single base substitution C T 3_prime_UTR_variant MELA-AU 1 32951818 32951818 single base substitution C T 3_prime_UTR_variant MELA-AU 1 32951901 32951901 single base substitution G A 3_prime_UTR_variant MELA-AU 1 32952245 32952245 single base substitution G A 3_prime_UTR_variant MELA-AU 1 32952376 32952376 single base substitution C T 3_prime_UTR_variant MELA-AU 1 32952630 32952630 single base substitution C T 3_prime_UTR_variant MELA-AU 1 32952932 32952932 single base substitution G A 3_prime_UTR_variant MELA-AU 1 32953144 32953144 single base substitution C T 3_prime_UTR_variant MELA-AU 1 32953393 32953393 single base substitution C T 3_prime_UTR_variant MELA-AU 1 32953510 32953510 single base substitution C T 3_prime_UTR_variant MELA-AU 1 32953663 32953663 single base substitution A G 3_prime_UTR_variant MELA-AU 1 32953752 32953752 single base substitution C T 3_prime_UTR_variant MELA-AU 1 32953767 32953767 single base substitution G A 3_prime_UTR_variant MELA-AU 1 32954005 32954005 single base substitution C T 3_prime_UTR_variant MELA-AU 1 32954601 32954601 single base substitution T C 3_prime_UTR_variant MELA-AU 1 32954732 32954732 single base substitution C T 3_prime_UTR_variant MELA-AU 1 32954752 32954752 single base substitution G A 3_prime_UTR_variant MELA-AU 1 32955004 32955004 single base substitution G A 3_prime_UTR_variant MELA-AU 1 32955511 32955511 single base substitution G A 3_prime_UTR_variant MELA-AU 1 32955519 32955519 single base substitution C A 3_prime_UTR_variant MELA-AU 1 32955625 32955625 single base substitution G A 3_prime_UTR_variant MELA-AU 1 32956052 32956052 single base substitution A G 3_prime_UTR_variant MELA-AU 1 32956203 32956203 single base substitution T C 3_prime_UTR_variant MELA-AU 1 32956214 32956214 single base substitution G T 3_prime_UTR_variant MELA-AU 1 32956215 32956215 single base substitution G A 3_prime_UTR_variant MELA-AU 1 32956781 32956781 single base substitution G A 3_prime_UTR_variant MELA-AU 1 32957249 32957249 single base substitution G A 3_prime_UTR_variant MELA-AU 1 32957317 32957317 single base substitution G A 3_prime_UTR_variant MELA-AU 1 32957723 32957723 single base substitution G A 3_prime_UTR_variant MELA-AU 1 32957768 32957768 single base substitution G C 3_prime_UTR_variant MELA-AU 1 32957948 32957949 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 1 32958215 32958215 single base substitution C T 3_prime_UTR_variant MELA-AU 1 32958352 32958352 single base substitution G A 3_prime_UTR_variant MELA-AU 1 32958562 32958562 single base substitution C T 3_prime_UTR_variant MELA-AU 1 32958675 32958675 single base substitution C T 3_prime_UTR_variant MELA-AU 1 32959175 32959175 single base substitution A G 3_prime_UTR_variant MELA-AU 1 32959504 32959504 single base substitution C T 3_prime_UTR_variant MELA-AU 1 32959688 32959688 single base substitution G A 3_prime_UTR_variant MELA-AU 1 32959961 32959961 single base substitution C T 3_prime_UTR_variant MELA-AU 1 32960018 32960018 single base substitution G A 3_prime_UTR_variant MELA-AU 1 32960590 32960590 single base substitution G A 3_prime_UTR_variant MELA-AU 1 32960617 32960617 single base substitution G A 3_prime_UTR_variant MELA-AU 1 32960737 32960737 single base substitution G A 3_prime_UTR_variant MELA-AU 1 32960894 32960894 single base substitution G A 3_prime_UTR_variant MELA-AU 1 32961097 32961097 single base substitution T A 3_prime_UTR_variant MELA-AU 1 32963473 32963473 single base substitution G A downstream_gene_variant MELA-AU 1 32963727 32963727 single base substitution G A downstream_gene_variant MELA-AU 1 32964029 32964029 single base substitution C T downstream_gene_variant MELA-AU 1 32964073 32964073 single base substitution G A downstream_gene_variant MELA-AU 1 32964216 32964216 single base substitution G A downstream_gene_variant MELA-AU 1 32964356 32964356 single base substitution G A downstream_gene_variant MELA-AU 1 32964893 32964893 single base substitution C T downstream_gene_variant MELA-AU 1 32965254 32965254 single base substitution G A downstream_gene_variant MELA-AU 1 32965768 32965768 single base substitution G A downstream_gene_variant MELA-AU 1 32966352 32966352 single base substitution G A downstream_gene_variant ORCA-IN 1 32938331 32938331 single base substitution C G intron_variant OV-AU 1 32927733 32927733 single base substitution A C upstream_gene_variant OV-AU 1 32928268 32928268 single base substitution A G upstream_gene_variant OV-AU 1 32929252 32929252 single base substitution C A upstream_gene_variant OV-AU 1 32933001 32933001 single base substitution C T intron_variant OV-AU 1 32941769 32941769 single base substitution C T intron_variant OV-AU 1 32944767 32944767 single base substitution G A intron_variant OV-AU 1 32950593 32950593 single base substitution G T intron_variant OV-AU 1 32952122 32952122 single base substitution C A 3_prime_UTR_variant OV-AU 1 32956279 32956279 single base substitution C T 3_prime_UTR_variant OV-AU 1 32962861 32962861 single base substitution A G downstream_gene_variant OV-AU 1 32964655 32964655 single base substitution G C downstream_gene_variant OV-AU 1 32965402 32965402 single base substitution A G downstream_gene_variant OV-AU 1 32966811 32966811 single base substitution A G downstream_gene_variant PACA-AU 1 32929438 32929438 single base substitution C T upstream_gene_variant PACA-AU 1 32929707 32929707 single base substitution C T upstream_gene_variant PACA-AU 1 32936808 32936808 single base substitution G A missense_variant G195S 583G>A PACA-AU 1 32937643 32937643 single base substitution T C intron_variant PACA-AU 1 32938592 32938592 single base substitution G A intron_variant PACA-AU 1 32940597 32940597 single base substitution C T intron_variant PACA-AU 1 32941429 32941429 single base substitution T G intron_variant PACA-AU 1 32944049 32944049 single base substitution G T intron_variant PACA-AU 1 32947970 32947970 single base substitution C T intron_variant PACA-AU 1 32948106 32948106 single base substitution T A intron_variant PACA-AU 1 32953886 32953886 deletion of <=200bp A - 3_prime_UTR_variant PACA-AU 1 32955695 32955695 single base substitution A G 3_prime_UTR_variant PACA-AU 1 32959132 32959132 single base substitution G A 3_prime_UTR_variant PACA-AU 1 32966445 32966445 single base substitution C A downstream_gene_variant PACA-CA 1 32925715 32925715 single base substitution G T upstream_gene_variant PACA-CA 1 32928146 32928146 single base substitution C A upstream_gene_variant PACA-CA 1 32930692 32930692 single base substitution G A 5_prime_UTR_variant PACA-CA 1 32936409 32936409 single base substitution C T missense_variant R62W 184C>T PACA-CA 1 32936970 32936970 single base substitution T C missense_variant Y249H 745T>C PACA-CA 1 32937082 32937082 single base substitution G A missense_variant R286H 857G>A PACA-CA 1 32948696 32948696 single base substitution A G intron_variant PACA-CA 1 32948706 32948706 single base substitution C G intron_variant PACA-CA 1 32952465 32952465 single base substitution C T 3_prime_UTR_variant PACA-CA 1 32954655 32954655 single base substitution C T 3_prime_UTR_variant PACA-CA 1 32954873 32954873 single base substitution G T 3_prime_UTR_variant PACA-CA 1 32958805 32958805 single base substitution G A 3_prime_UTR_variant PACA-CA 1 32962423 32962423 single base substitution G C downstream_gene_variant PAEN-AU 1 32966468 32966468 single base substitution C A downstream_gene_variant PAEN-IT 1 32946341 32946341 single base substitution G A intron_variant PAEN-IT 1 32947054 32947054 single base substitution G A intron_variant PBCA-DE 1 32928701 32928703 deletion of <=200bp TTC - upstream_gene_variant PBCA-DE 1 32930950 32930950 single base substitution G A intron_variant PBCA-DE 1 32932933 32932933 insertion of <=200bp - T intron_variant PBCA-DE 1 32940134 32940134 insertion of <=200bp - A intron_variant PBCA-DE 1 32944953 32944953 single base substitution C T intron_variant PBCA-DE 1 32946599 32946599 single base substitution C T missense_variant R367W 1099C>T PRAD-CA 1 32926516 32926516 single base substitution C T upstream_gene_variant PRAD-CA 1 32931648 32931648 single base substitution A T intron_variant PRAD-CA 1 32958148 32958148 single base substitution C T 3_prime_UTR_variant PRAD-UK 1 32931949 32931949 single base substitution C A intron_variant PRAD-UK 1 32934082 32934082 single base substitution T A intron_variant PRAD-UK 1 32953896 32953896 single base substitution C G 3_prime_UTR_variant PRAD-UK 1 32956071 32956071 single base substitution G T 3_prime_UTR_variant PRAD-UK 1 32958712 32958712 single base substitution G C 3_prime_UTR_variant RECA-EU 1 32926164 32926164 single base substitution A T upstream_gene_variant RECA-EU 1 32930039 32930039 single base substitution G A upstream_gene_variant RECA-EU 1 32937082 32937082 single base substitution G A missense_variant R286H 857G>A RECA-EU 1 32946276 32946276 single base substitution A T intron_variant RECA-EU 1 32956747 32956747 single base substitution T G 3_prime_UTR_variant RECA-EU 1 32959398 32959398 single base substitution A G 3_prime_UTR_variant SKCA-BR 1 32926345 32926345 single base substitution G A upstream_gene_variant SKCA-BR 1 32927553 32927553 single base substitution T C upstream_gene_variant SKCA-BR 1 32928091 32928091 single base substitution C A upstream_gene_variant SKCA-BR 1 32929274 32929274 single base substitution G A upstream_gene_variant SKCA-BR 1 32932874 32932874 single base substitution C T intron_variant SKCA-BR 1 32934570 32934570 single base substitution C T intron_variant SKCA-BR 1 32935671 32935671 single base substitution C T intron_variant SKCA-BR 1 32936835 32936835 single base substitution G A missense_variant E204K 610G>A SKCA-BR 1 32937488 32937488 single base substitution A G intron_variant SKCA-BR 1 32938655 32938655 single base substitution C T intron_variant SKCA-BR 1 32940062 32940062 single base substitution G A intron_variant SKCA-BR 1 32941417 32941417 insertion of <=200bp - GTT intron_variant SKCA-BR 1 32941509 32941509 single base substitution C T intron_variant SKCA-BR 1 32942791 32942791 single base substitution C T intron_variant SKCA-BR 1 32944314 32944314 single base substitution G A intron_variant SKCA-BR 1 32948307 32948307 single base substitution C T intron_variant SKCA-BR 1 32950418 32950418 single base substitution C T intron_variant SKCA-BR 1 32952024 32952024 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 32955519 32955519 single base substitution C T 3_prime_UTR_variant SKCA-BR 1 32956336 32956336 single base substitution A C 3_prime_UTR_variant SKCA-BR 1 32957423 32957423 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 32959809 32959809 single base substitution G A 3_prime_UTR_variant SKCA-BR 1 32960566 32960566 single base substitution A T 3_prime_UTR_variant SKCA-BR 1 32963020 32963020 single base substitution C T downstream_gene_variant SKCA-BR 1 32963506 32963506 single base substitution G A downstream_gene_variant THCA-SA 1 32951040 32951040 single base substitution G C 3_prime_UTR_variant UCEC-US 1 32936820 32936820 single base substitution G T missense_variant D199Y 595G>T UCEC-US 1 32950888 32950888 single base substitution G T stop_gained E453* 1357G>T