Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-US 1 33058581 33058581 single base substitution C T 3_prime_UTR_variant BLCA-US 1 33059171 33059171 single base substitution G C 3_prime_UTR_variant BOCA-FR 1 32994624 32994624 single base substitution T G intron_variant 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 intron_variant BRCA-EU 1 32953040 32953040 single base substitution G A intron_variant BRCA-EU 1 32953180 32953180 single base substitution C T intron_variant BRCA-EU 1 32954546 32954546 single base substitution C T intron_variant BRCA-EU 1 32955475 32955475 single base substitution G T intron_variant BRCA-EU 1 32955521 32955521 single base substitution T C intron_variant BRCA-EU 1 32956198 32956198 deletion of <=200bp T - intron_variant BRCA-EU 1 32956735 32956735 single base substitution G C intron_variant BRCA-EU 1 32956911 32956911 single base substitution C A intron_variant BRCA-EU 1 32959239 32959239 single base substitution G C intron_variant BRCA-EU 1 32959769 32959814 deletion of <=200bp AGCAAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAGAAATC - intron_variant BRCA-EU 1 32961264 32961264 single base substitution G A intron_variant BRCA-EU 1 32961483 32961483 insertion of <=200bp - A intron_variant BRCA-EU 1 32962125 32962125 single base substitution G C intron_variant BRCA-EU 1 32962455 32962455 single base substitution A T intron_variant BRCA-EU 1 32962686 32962686 deletion of <=200bp T - intron_variant BRCA-EU 1 32962927 32962927 single base substitution C T intron_variant BRCA-EU 1 32963175 32963175 single base substitution T A intron_variant BRCA-EU 1 32963492 32963492 deletion of <=200bp A - intron_variant BRCA-EU 1 32963780 32963780 single base substitution G A intron_variant BRCA-EU 1 32964330 32964330 single base substitution A G intron_variant BRCA-EU 1 32965415 32965415 single base substitution G A intron_variant BRCA-EU 1 32966824 32966824 single base substitution A T intron_variant BRCA-EU 1 32967501 32967501 single base substitution T C intron_variant BRCA-EU 1 32967894 32967894 single base substitution G C intron_variant BRCA-EU 1 32968612 32968612 single base substitution C G intron_variant BRCA-EU 1 32969369 32969369 single base substitution C T intron_variant BRCA-EU 1 32970304 32970304 single base substitution C A intron_variant BRCA-EU 1 32970390 32970390 single base substitution C G intron_variant BRCA-EU 1 32970884 32970884 single base substitution C A intron_variant BRCA-EU 1 32973032 32973032 single base substitution G T intron_variant BRCA-EU 1 32973347 32973347 single base substitution C T intron_variant BRCA-EU 1 32973820 32973820 single base substitution G C intron_variant BRCA-EU 1 32974441 32974441 single base substitution G A intron_variant BRCA-EU 1 32974712 32974712 single base substitution C G intron_variant BRCA-EU 1 32975474 32975474 single base substitution C T intron_variant BRCA-EU 1 32975919 32975919 single base substitution G C intron_variant BRCA-EU 1 32977541 32977541 single base substitution C T intron_variant BRCA-EU 1 32978085 32978085 deletion of <=200bp A - intron_variant BRCA-EU 1 32979109 32979109 single base substitution C T intron_variant BRCA-EU 1 32980328 32980328 single base substitution A T intron_variant BRCA-EU 1 32980329 32980329 single base substitution A T intron_variant BRCA-EU 1 32980938 32980938 single base substitution C A intron_variant BRCA-EU 1 32981325 32981325 single base substitution G A intron_variant BRCA-EU 1 32981616 32981616 single base substitution G C intron_variant BRCA-EU 1 32983381 32983381 single base substitution C A intron_variant BRCA-EU 1 32983825 32983825 single base substitution T A intron_variant BRCA-EU 1 32984137 32984137 single base substitution C T intron_variant BRCA-EU 1 32986006 32986006 single base substitution C G intron_variant BRCA-EU 1 32986749 32986749 single base substitution C G intron_variant BRCA-EU 1 32987302 32987302 single base substitution G C intron_variant BRCA-EU 1 32987936 32987936 single base substitution C A intron_variant BRCA-EU 1 32990784 32990784 single base substitution G C intron_variant BRCA-EU 1 32991140 32991140 single base substitution A T intron_variant BRCA-EU 1 32993770 32993770 single base substitution G A intron_variant BRCA-EU 1 32994636 32994636 deletion of <=200bp T - intron_variant BRCA-EU 1 32995894 32995894 single base substitution G T intron_variant BRCA-EU 1 32996358 32996358 single base substitution G A intron_variant BRCA-EU 1 32997309 32997309 single base substitution G C intron_variant BRCA-EU 1 32997466 32997466 single base substitution G C intron_variant BRCA-EU 1 32997844 32997844 single base substitution G A intron_variant BRCA-EU 1 33000282 33000282 single base substitution A C intron_variant BRCA-EU 1 33001625 33001625 single base substitution A G intron_variant BRCA-EU 1 33001976 33001976 single base substitution C T intron_variant BRCA-EU 1 33002060 33002061 deletion of <=200bp TC - intron_variant BRCA-EU 1 33002374 33002374 single base substitution C G intron_variant BRCA-EU 1 33003105 33003105 single base substitution C A intron_variant BRCA-EU 1 33003665 33003665 single base substitution G T intron_variant BRCA-EU 1 33008674 33008676 deletion of <=200bp TAT - intron_variant BRCA-EU 1 33010568 33010568 single base substitution G A intron_variant BRCA-EU 1 33012052 33012052 single base substitution A T intron_variant BRCA-EU 1 33012139 33012139 single base substitution G C intron_variant BRCA-EU 1 33015035 33015035 single base substitution C T intron_variant BRCA-EU 1 33017310 33017310 insertion of <=200bp - A intron_variant BRCA-EU 1 33018250 33018250 single base substitution G C intron_variant BRCA-EU 1 33020255 33020255 deletion of <=200bp T - intron_variant BRCA-EU 1 33021608 33021608 single base substitution C T intron_variant BRCA-EU 1 33022966 33022966 deletion of <=200bp T - intron_variant BRCA-EU 1 33023918 33023918 deletion of <=200bp T - intron_variant BRCA-EU 1 33024121 33024121 single base substitution T C intron_variant BRCA-EU 1 33026823 33026823 single base substitution T A intron_variant BRCA-EU 1 33026866 33026866 single base substitution C A intron_variant BRCA-EU 1 33027531 33027531 single base substitution G T intron_variant BRCA-EU 1 33031677 33031677 single base substitution C A intron_variant BRCA-EU 1 33031917 33031917 single base substitution C T intron_variant BRCA-EU 1 33033212 33033212 single base substitution G A intron_variant BRCA-EU 1 33033457 33033457 single base substitution T A intron_variant BRCA-EU 1 33033851 33033851 single base substitution A G intron_variant BRCA-EU 1 33034016 33034016 single base substitution C G intron_variant BRCA-EU 1 33034344 33034344 single base substitution C T intron_variant BRCA-EU 1 33035641 33035641 single base substitution C G intron_variant BRCA-EU 1 33037058 33037058 deletion of <=200bp T - intron_variant BRCA-EU 1 33038386 33038386 single base substitution A C intron_variant BRCA-EU 1 33040162 33040162 single base substitution C T intron_variant BRCA-EU 1 33045854 33045854 single base substitution T A intron_variant BRCA-EU 1 33049343 33049343 single base substitution A G intron_variant BRCA-EU 1 33049728 33049728 single base substitution G A intron_variant BRCA-EU 1 33051037 33051037 insertion of <=200bp - A intron_variant BRCA-EU 1 33051364 33051364 single base substitution G C intron_variant BRCA-EU 1 33051558 33051558 single base substitution C T intron_variant BRCA-EU 1 33054531 33054531 single base substitution G A intron_variant BRCA-EU 1 33055943 33055943 deletion of <=200bp T - intron_variant BRCA-EU 1 33056385 33056385 single base substitution C A intron_variant BRCA-EU 1 33058845 33058845 single base substitution C T 3_prime_UTR_variant BRCA-EU 1 33059485 33059485 single base substitution T C intron_variant BRCA-EU 1 33059998 33059998 single base substitution G A intron_variant BRCA-EU 1 33060538 33060538 deletion of <=200bp T - intron_variant BRCA-EU 1 33060610 33060610 single base substitution T G intron_variant BRCA-EU 1 33061797 33061797 single base substitution C T intron_variant BRCA-EU 1 33062965 33062965 single base substitution C A intron_variant BRCA-EU 1 33063575 33063575 single base substitution G C intron_variant BRCA-EU 1 33063811 33063811 single base substitution T G intron_variant BRCA-EU 1 33064009 33064009 deletion of <=200bp T - intron_variant BRCA-EU 1 33064316 33064316 single base substitution A C intron_variant BRCA-EU 1 33064319 33064319 single base substitution C T intron_variant BRCA-EU 1 33064454 33064454 single base substitution A G intron_variant BRCA-EU 1 33065047 33065047 single base substitution C T intron_variant BRCA-EU 1 33065200 33065200 single base substitution A G intron_variant BRCA-EU 1 33065262 33065262 single base substitution G C intron_variant BRCA-EU 1 33065904 33065904 single base substitution G C 3_prime_UTR_variant BRCA-EU 1 33066835 33066835 single base substitution G A downstream_gene_variant BRCA-EU 1 33067987 33067987 single base substitution A G downstream_gene_variant BRCA-EU 1 33069175 33069175 single base substitution T G 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 intron_variant BRCA-FR 1 32959239 32959239 single base substitution G C intron_variant BRCA-FR 1 32962927 32962927 single base substitution C T intron_variant BRCA-FR 1 32980328 32980328 single base substitution A T intron_variant BRCA-FR 1 32997309 32997309 single base substitution G C intron_variant BRCA-FR 1 33014996 33014996 single base substitution G A intron_variant BRCA-FR 1 33018250 33018250 single base substitution G C intron_variant BRCA-FR 1 33023067 33023067 single base substitution A G intron_variant BRCA-FR 1 33033457 33033457 single base substitution T A intron_variant BRCA-FR 1 33035641 33035641 single base substitution C G intron_variant BRCA-FR 1 33038426 33038426 single base substitution G A intron_variant BRCA-FR 1 33060070 33060070 single base substitution G C intron_variant BRCA-FR 1 33063255 33063255 single base substitution G A intron_variant BRCA-UK 1 32944925 32944925 single base substitution G C intron_variant BRCA-US 1 32937111 32937111 single base substitution G A exon_variant BRCA-US 1 32946500 32946500 single base substitution C A exon_variant BRCA-US 1 32950879 32950879 single base substitution G C exon_variant BRCA-US 1 33065914 33065914 single base substitution G A 3_prime_UTR_variant BRCA-US 1 33065979 33065981 deletion of <=200bp GAA - 3_prime_UTR_variant BTCA-JP 1 32936580 32936580 single base substitution A T exon_variant BTCA-JP 1 32937292 32937292 single base substitution C T intron_variant CESC-US 1 32936792 32936792 single base substitution G C exon_variant CESC-US 1 32946572 32946572 single base substitution C T exon_variant CESC-US 1 33058778 33058778 single base substitution C T 3_prime_UTR_variant CLLE-ES 1 32945017 32945017 single base substitution C T intron_variant CLLE-ES 1 32953430 32953430 single base substitution C A intron_variant CLLE-ES 1 32969222 32969222 single base substitution A T intron_variant CLLE-ES 1 32979473 32979473 single base substitution C T intron_variant CLLE-ES 1 32984258 32984258 single base substitution T A intron_variant CLLE-ES 1 32998435 32998435 single base substitution A G intron_variant COAD-US 1 32936550 32936550 single base substitution G T exon_variant COAD-US 1 32936766 32936766 single base substitution G A exon_variant COAD-US 1 32937156 32937156 single base substitution G A exon_variant COAD-US 1 32946542 32946542 insertion of <=200bp - C exon_variant COAD-US 1 32946573 32946573 single base substitution G A exon_variant COAD-US 1 32950810 32950810 single base substitution G A exon_variant COAD-US 1 33058547 33058549 deletion of <=200bp TCA - 3_prime_UTR_variant COAD-US 1 33059217 33059217 single base substitution C T 3_prime_UTR_variant COCA-CN 1 32936672 32936672 single base substitution A G exon_variant COCA-CN 1 33002159 33002159 single base substitution G T 3_prime_UTR_variant COCA-CN 1 33002176 33002176 single base substitution T G intron_variant COCA-CN 1 33066113 33066113 single base substitution T G 3_prime_UTR_variant EOPC-DE 1 32943183 32943183 single base substitution C A intron_variant EOPC-DE 1 32986826 32986826 single base substitution G C intron_variant EOPC-DE 1 32989184 32989184 single base substitution G A intron_variant EOPC-DE 1 33070307 33070307 single base substitution T C downstream_gene_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 exon_variant ESAD-UK 1 32936766 32936766 single base substitution G T exon_variant 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 intron_variant ESAD-UK 1 32956019 32956019 single base substitution G T intron_variant ESAD-UK 1 32956436 32956436 single base substitution C T intron_variant ESAD-UK 1 32956864 32956864 deletion of <=200bp T - intron_variant ESAD-UK 1 32957516 32957516 single base substitution C A intron_variant ESAD-UK 1 32957520 32957520 single base substitution A C intron_variant ESAD-UK 1 32959748 32959748 single base substitution C A intron_variant ESAD-UK 1 32960460 32960460 single base substitution T C intron_variant ESAD-UK 1 32960587 32960587 single base substitution A G intron_variant ESAD-UK 1 32963972 32963972 single base substitution C T intron_variant ESAD-UK 1 32964482 32964482 single base substitution C T intron_variant ESAD-UK 1 32966233 32966233 single base substitution G C intron_variant ESAD-UK 1 32970130 32970130 single base substitution T A intron_variant ESAD-UK 1 32971066 32971066 single base substitution G A intron_variant ESAD-UK 1 32971088 32971088 single base substitution C T intron_variant ESAD-UK 1 32971856 32971856 deletion of <=200bp T - intron_variant ESAD-UK 1 32976008 32976008 single base substitution T A intron_variant ESAD-UK 1 32976566 32976566 insertion of <=200bp - ATTC intron_variant ESAD-UK 1 32980339 32980339 single base substitution G C intron_variant ESAD-UK 1 32980492 32980492 single base substitution C A intron_variant ESAD-UK 1 32980662 32980662 deletion of <=200bp T - intron_variant ESAD-UK 1 32983034 32983034 single base substitution C G intron_variant ESAD-UK 1 32984331 32984331 single base substitution C T intron_variant ESAD-UK 1 32984392 32984392 single base substitution A T intron_variant ESAD-UK 1 32984550 32984550 single base substitution G A intron_variant ESAD-UK 1 32985613 32985613 single base substitution C A intron_variant ESAD-UK 1 32986219 32986219 single base substitution A G intron_variant ESAD-UK 1 32986504 32986504 single base substitution G A intron_variant ESAD-UK 1 32988112 32988112 single base substitution T G intron_variant ESAD-UK 1 32990179 32990179 single base substitution G A intron_variant ESAD-UK 1 32990203 32990203 single base substitution A C intron_variant ESAD-UK 1 32991606 32991606 single base substitution G A intron_variant ESAD-UK 1 32991792 32991792 single base substitution C T intron_variant ESAD-UK 1 32992035 32992035 single base substitution A G intron_variant ESAD-UK 1 32992225 32992225 single base substitution G C intron_variant ESAD-UK 1 32993287 32993287 single base substitution C G intron_variant ESAD-UK 1 32993724 32993724 single base substitution G A intron_variant ESAD-UK 1 32994113 32994113 single base substitution G A intron_variant ESAD-UK 1 32998277 32998277 single base substitution C A intron_variant ESAD-UK 1 32999089 32999089 single base substitution C T intron_variant ESAD-UK 1 33009291 33009291 single base substitution T C intron_variant ESAD-UK 1 33009664 33009664 single base substitution G C intron_variant ESAD-UK 1 33010814 33010814 insertion of <=200bp - A intron_variant ESAD-UK 1 33010929 33010929 single base substitution A G intron_variant ESAD-UK 1 33010992 33010992 single base substitution T G intron_variant ESAD-UK 1 33012181 33012181 single base substitution G T intron_variant ESAD-UK 1 33012559 33012559 single base substitution G C intron_variant ESAD-UK 1 33013954 33013954 single base substitution G C intron_variant ESAD-UK 1 33014214 33014214 single base substitution C T intron_variant ESAD-UK 1 33015862 33015862 insertion of <=200bp - A intron_variant ESAD-UK 1 33017786 33017786 single base substitution G A intron_variant ESAD-UK 1 33020488 33020488 single base substitution G A intron_variant ESAD-UK 1 33022480 33022480 insertion of <=200bp - A intron_variant ESAD-UK 1 33023297 33023297 single base substitution C T intron_variant ESAD-UK 1 33023422 33023422 single base substitution G T intron_variant ESAD-UK 1 33023809 33023809 single base substitution C A intron_variant ESAD-UK 1 33025120 33025120 single base substitution A C intron_variant ESAD-UK 1 33025332 33025332 single base substitution C T intron_variant ESAD-UK 1 33026750 33026750 single base substitution A G intron_variant ESAD-UK 1 33029911 33029911 single base substitution T C intron_variant ESAD-UK 1 33030401 33030401 single base substitution A G intron_variant ESAD-UK 1 33031259 33031259 single base substitution T A intron_variant ESAD-UK 1 33032391 33032391 single base substitution C A intron_variant ESAD-UK 1 33032558 33032558 single base substitution G T intron_variant ESAD-UK 1 33033016 33033016 single base substitution C T intron_variant ESAD-UK 1 33036267 33036267 single base substitution A C intron_variant ESAD-UK 1 33037863 33037863 single base substitution A G intron_variant ESAD-UK 1 33038203 33038203 single base substitution G A intron_variant ESAD-UK 1 33039822 33039822 single base substitution G A intron_variant ESAD-UK 1 33043765 33043765 single base substitution A G intron_variant ESAD-UK 1 33044263 33044263 single base substitution C T intron_variant ESAD-UK 1 33044447 33044447 single base substitution C T intron_variant ESAD-UK 1 33045023 33045023 single base substitution G T intron_variant ESAD-UK 1 33045337 33045337 single base substitution C T intron_variant ESAD-UK 1 33045854 33045854 single base substitution T A intron_variant ESAD-UK 1 33046015 33046015 single base substitution G C intron_variant ESAD-UK 1 33046465 33046465 single base substitution G C intron_variant ESAD-UK 1 33049700 33049700 single base substitution G A intron_variant ESAD-UK 1 33050074 33050074 single base substitution C G intron_variant ESAD-UK 1 33051846 33051846 single base substitution G A intron_variant ESAD-UK 1 33053818 33053818 single base substitution G A intron_variant ESAD-UK 1 33055211 33055211 single base substitution C T intron_variant ESAD-UK 1 33057532 33057532 single base substitution C T intron_variant ESAD-UK 1 33058712 33058712 single base substitution G A 3_prime_UTR_variant ESAD-UK 1 33063029 33063029 single base substitution G A intron_variant ESAD-UK 1 33066769 33066769 single base substitution G A downstream_gene_variant ESAD-UK 1 33068261 33068261 single base substitution C A downstream_gene_variant ESAD-UK 1 33070676 33070676 single base substitution C T 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 exon_variant KIRC-US 1 32936276 32936276 single base substitution G A exon_variant KIRC-US 1 32950945 32950945 single base substitution G T intron_variant LAML-KR 1 32989700 32989700 single base substitution A G intron_variant LAML-KR 1 32989968 32989968 single base substitution G A intron_variant LAML-KR 1 32997904 32997904 single base substitution C T intron_variant LAML-KR 1 32997915 32997915 single base substitution C T intron_variant LAML-KR 1 32998018 32998018 single base substitution A C intron_variant LAML-KR 1 33019543 33019543 single base substitution G A intron_variant LAML-KR 1 33033419 33033419 single base substitution A C intron_variant LAML-KR 1 33050651 33050651 single base substitution G T intron_variant LICA-FR 1 32931013 32931013 single base substitution C T intron_variant LICA-FR 1 32936372 32936372 single base substitution C G exon_variant 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 exon_variant LICA-FR 1 32967016 32967016 single base substitution A T intron_variant LICA-FR 1 32972901 32972901 deletion of <=200bp T - intron_variant LICA-FR 1 32979317 32979317 deletion of <=200bp T - intron_variant LICA-FR 1 32979384 32979384 single base substitution C T intron_variant LICA-FR 1 32980976 32980976 single base substitution A T intron_variant LICA-FR 1 32985581 32985586 deletion of <=200bp TTTTTT - intron_variant LICA-FR 1 33041611 33041611 single base substitution C T intron_variant LICA-FR 1 33050565 33050565 single base substitution C G intron_variant LIHC-US 1 32950817 32950817 single base substitution A G exon_variant LIHC-US 1 32950917 32950917 single base substitution A C exon_variant 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 intron_variant LINC-JP 1 32973962 32973962 single base substitution C A intron_variant LINC-JP 1 32975535 32975535 single base substitution T C intron_variant LINC-JP 1 33002296 33002296 single base substitution C T intron_variant LINC-JP 1 33013241 33013241 single base substitution A G intron_variant LINC-JP 1 33017233 33017233 single base substitution C A intron_variant LINC-JP 1 33029422 33029422 single base substitution T C intron_variant LINC-JP 1 33029429 33029429 deletion of <=200bp A - intron_variant LINC-JP 1 33032358 33032358 single base substitution T C intron_variant LINC-JP 1 33044976 33044976 single base substitution C T intron_variant LINC-JP 1 33052027 33052027 single base substitution A C intron_variant LINC-JP 1 33053952 33053952 single base substitution T C intron_variant LINC-JP 1 33066026 33066026 single base substitution A C 3_prime_UTR_variant LINC-JP 1 33066099 33066099 single base substitution T C 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 exon_variant 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 intron_variant LIRI-JP 1 32951650 32951650 single base substitution A T intron_variant LIRI-JP 1 32951742 32951742 single base substitution T C intron_variant LIRI-JP 1 32954770 32954770 single base substitution G T intron_variant LIRI-JP 1 32963466 32963466 single base substitution C T intron_variant LIRI-JP 1 32965538 32965538 single base substitution A G intron_variant LIRI-JP 1 32970063 32970063 single base substitution C T intron_variant LIRI-JP 1 32971443 32971443 single base substitution C T intron_variant LIRI-JP 1 32972583 32972583 single base substitution G T intron_variant LIRI-JP 1 32975718 32975718 single base substitution G C intron_variant LIRI-JP 1 32976069 32976069 single base substitution G C intron_variant LIRI-JP 1 32977192 32977192 single base substitution C A intron_variant LIRI-JP 1 32978872 32978872 single base substitution A G intron_variant LIRI-JP 1 32979512 32979512 single base substitution A G intron_variant LIRI-JP 1 32980151 32980151 single base substitution C T intron_variant LIRI-JP 1 32981574 32981574 single base substitution C T intron_variant LIRI-JP 1 32981827 32981827 single base substitution T C intron_variant LIRI-JP 1 32990657 32990657 single base substitution A T intron_variant LIRI-JP 1 32993274 32993274 single base substitution T A intron_variant LIRI-JP 1 32993537 32993537 single base substitution G A intron_variant LIRI-JP 1 32995201 32995201 single base substitution T C intron_variant LIRI-JP 1 32995920 32995920 single base substitution T C intron_variant LIRI-JP 1 32996613 32996613 single base substitution T G intron_variant LIRI-JP 1 32998587 32998587 single base substitution C T intron_variant LIRI-JP 1 33011842 33011842 single base substitution T G intron_variant LIRI-JP 1 33013527 33013527 single base substitution G T intron_variant LIRI-JP 1 33017134 33017134 single base substitution G T intron_variant LIRI-JP 1 33018602 33018602 single base substitution A G intron_variant LIRI-JP 1 33020627 33020627 single base substitution C T intron_variant LIRI-JP 1 33022056 33022056 single base substitution A T intron_variant LIRI-JP 1 33022730 33022730 single base substitution C G intron_variant LIRI-JP 1 33023518 33023518 single base substitution A C intron_variant LIRI-JP 1 33023580 33023580 single base substitution A G intron_variant LIRI-JP 1 33025200 33025200 single base substitution G T intron_variant LIRI-JP 1 33025339 33025339 single base substitution T G intron_variant LIRI-JP 1 33027236 33027236 single base substitution G T intron_variant LIRI-JP 1 33027923 33027923 single base substitution G C intron_variant LIRI-JP 1 33028470 33028470 single base substitution C G intron_variant LIRI-JP 1 33029786 33029786 single base substitution A G intron_variant LIRI-JP 1 33031535 33031535 single base substitution G T intron_variant LIRI-JP 1 33032596 33032596 single base substitution T A intron_variant LIRI-JP 1 33033924 33033924 single base substitution C A intron_variant LIRI-JP 1 33036541 33036541 single base substitution A G intron_variant LIRI-JP 1 33038600 33038600 single base substitution A G intron_variant LIRI-JP 1 33039493 33039493 single base substitution T A intron_variant LIRI-JP 1 33044355 33044355 single base substitution G A intron_variant LIRI-JP 1 33044464 33044464 single base substitution G T intron_variant LIRI-JP 1 33045131 33045131 single base substitution T C intron_variant LIRI-JP 1 33045956 33045956 single base substitution C T intron_variant LIRI-JP 1 33047282 33047282 single base substitution A C intron_variant LIRI-JP 1 33047369 33047369 single base substitution T C intron_variant LIRI-JP 1 33048648 33048648 single base substitution A G intron_variant LIRI-JP 1 33048806 33048806 single base substitution C T intron_variant LIRI-JP 1 33050821 33050821 single base substitution C T intron_variant LIRI-JP 1 33051169 33051169 single base substitution T C intron_variant LIRI-JP 1 33054853 33054853 deletion of <=200bp T - intron_variant LIRI-JP 1 33056429 33056429 single base substitution A G intron_variant LIRI-JP 1 33058771 33058771 single base substitution T C 3_prime_UTR_variant LIRI-JP 1 33062485 33062485 single base substitution C G intron_variant LIRI-JP 1 33064499 33064499 single base substitution T A intron_variant LIRI-JP 1 33065438 33065438 single base substitution G A intron_variant LIRI-JP 1 33066765 33066765 single base substitution T C downstream_gene_variant LIRI-JP 1 33069414 33069414 single base substitution A T downstream_gene_variant LIRI-JP 1 33070238 33070238 single base substitution A G downstream_gene_variant LIRI-JP 1 33071350 33071350 single base substitution T C 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 exon_variant LUSC-KR 1 32952167 32952167 single base substitution G T intron_variant LUSC-KR 1 32956559 32956559 single base substitution C T intron_variant LUSC-KR 1 32978373 32978373 single base substitution G T intron_variant LUSC-KR 1 32978982 32978982 single base substitution C A intron_variant LUSC-KR 1 32981561 32981561 single base substitution T G intron_variant LUSC-KR 1 32982907 32982907 single base substitution T G intron_variant LUSC-KR 1 32983234 32983234 single base substitution A T intron_variant LUSC-KR 1 32985663 32985663 single base substitution C T intron_variant LUSC-KR 1 32989179 32989179 single base substitution C A intron_variant LUSC-KR 1 33004941 33004941 single base substitution G A intron_variant LUSC-KR 1 33005632 33005632 single base substitution G A intron_variant LUSC-KR 1 33008801 33008801 single base substitution C T intron_variant LUSC-KR 1 33020767 33020767 single base substitution G T intron_variant LUSC-KR 1 33026563 33026563 single base substitution G C intron_variant LUSC-KR 1 33027738 33027738 single base substitution G T intron_variant LUSC-KR 1 33033415 33033415 single base substitution A C intron_variant LUSC-KR 1 33033421 33033421 single base substitution A C intron_variant LUSC-KR 1 33036991 33036991 single base substitution G A intron_variant LUSC-KR 1 33043187 33043187 single base substitution C T intron_variant LUSC-KR 1 33043211 33043211 single base substitution G T intron_variant LUSC-KR 1 33046542 33046542 single base substitution G C intron_variant LUSC-KR 1 33047088 33047088 single base substitution G A intron_variant LUSC-KR 1 33051717 33051717 single base substitution G A intron_variant LUSC-KR 1 33061070 33061070 single base substitution A G intron_variant LUSC-KR 1 33066299 33066299 single base substitution C A 3_prime_UTR_variant LUSC-KR 1 33068338 33068338 single base substitution G A downstream_gene_variant LUSC-KR 1 33069410 33069410 single base substitution G A downstream_gene_variant LUSC-US 1 33059073 33059073 single base substitution A G 3_prime_UTR_variant LUSC-US 1 33060763 33060763 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 intron_variant MALY-DE 1 32955321 32955321 single base substitution G A intron_variant MALY-DE 1 32956437 32956437 single base substitution G A intron_variant MALY-DE 1 32961494 32961494 insertion of <=200bp - T intron_variant MALY-DE 1 32962755 32962755 single base substitution C A intron_variant MALY-DE 1 32964428 32964428 single base substitution C T intron_variant MALY-DE 1 32966431 32966433 deletion of <=200bp GGC - intron_variant MALY-DE 1 32970130 32970130 single base substitution T A intron_variant MALY-DE 1 32979353 32979353 single base substitution A C intron_variant MALY-DE 1 32988338 32988338 single base substitution G T intron_variant MALY-DE 1 33002112 33002112 single base substitution C T exon_variant MALY-DE 1 33010309 33010312 deletion of <=200bp AAAC - intron_variant MALY-DE 1 33013059 33013059 single base substitution A T intron_variant MALY-DE 1 33019890 33019890 insertion of <=200bp - AGATGTTC intron_variant MALY-DE 1 33041691 33041691 single base substitution T G intron_variant MALY-DE 1 33044835 33044835 single base substitution A G intron_variant MALY-DE 1 33045466 33045466 single base substitution T C intron_variant MALY-DE 1 33045537 33045537 single base substitution T A intron_variant MALY-DE 1 33057428 33057428 deletion of <=200bp T - intron_variant MALY-DE 1 33068641 33068641 single base substitution C T 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 exon_variant MELA-AU 1 32936638 32936638 single base substitution T C exon_variant MELA-AU 1 32936777 32936777 single base substitution G A exon_variant MELA-AU 1 32936818 32936818 single base substitution G A exon_variant MELA-AU 1 32936957 32936957 single base substitution A G exon_variant MELA-AU 1 32937033 32937033 single base substitution T A exon_variant MELA-AU 1 32937046 32937046 single base substitution A G exon_variant MELA-AU 1 32937104 32937104 single base substitution G A exon_variant 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 exon_variant MELA-AU 1 32951284 32951284 single base substitution C T intron_variant MELA-AU 1 32951332 32951332 single base substitution A G intron_variant MELA-AU 1 32951597 32951597 single base substitution G A intron_variant MELA-AU 1 32951808 32951808 single base substitution C T intron_variant MELA-AU 1 32951818 32951818 single base substitution C T intron_variant MELA-AU 1 32951901 32951901 single base substitution G A intron_variant MELA-AU 1 32952245 32952245 single base substitution G A intron_variant MELA-AU 1 32952376 32952376 single base substitution C T intron_variant MELA-AU 1 32952630 32952630 single base substitution C T intron_variant MELA-AU 1 32952932 32952932 single base substitution G A intron_variant MELA-AU 1 32953144 32953144 single base substitution C T intron_variant MELA-AU 1 32953393 32953393 single base substitution C T intron_variant MELA-AU 1 32953510 32953510 single base substitution C T intron_variant MELA-AU 1 32953663 32953663 single base substitution A G intron_variant MELA-AU 1 32953752 32953752 single base substitution C T intron_variant MELA-AU 1 32953767 32953767 single base substitution G A intron_variant MELA-AU 1 32954005 32954005 single base substitution C T intron_variant MELA-AU 1 32954601 32954601 single base substitution T C intron_variant MELA-AU 1 32954732 32954732 single base substitution C T intron_variant MELA-AU 1 32954752 32954752 single base substitution G A intron_variant MELA-AU 1 32955004 32955004 single base substitution G A intron_variant MELA-AU 1 32955511 32955511 single base substitution G A intron_variant MELA-AU 1 32955519 32955519 single base substitution C A intron_variant MELA-AU 1 32955625 32955625 single base substitution G A intron_variant MELA-AU 1 32956052 32956052 single base substitution A G intron_variant MELA-AU 1 32956203 32956203 single base substitution T C intron_variant MELA-AU 1 32956214 32956214 single base substitution G T intron_variant MELA-AU 1 32956215 32956215 single base substitution G A intron_variant MELA-AU 1 32956781 32956781 single base substitution G A intron_variant MELA-AU 1 32957249 32957249 single base substitution G A intron_variant MELA-AU 1 32957317 32957317 single base substitution G A intron_variant MELA-AU 1 32957723 32957723 single base substitution G A intron_variant MELA-AU 1 32957768 32957768 single base substitution G C intron_variant MELA-AU 1 32957948 32957949 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 32958215 32958215 single base substitution C T intron_variant MELA-AU 1 32958352 32958352 single base substitution G A intron_variant MELA-AU 1 32958562 32958562 single base substitution C T intron_variant MELA-AU 1 32958675 32958675 single base substitution C T intron_variant MELA-AU 1 32959175 32959175 single base substitution A G intron_variant MELA-AU 1 32959504 32959504 single base substitution C T intron_variant MELA-AU 1 32959688 32959688 single base substitution G A intron_variant MELA-AU 1 32959961 32959961 single base substitution C T intron_variant MELA-AU 1 32960018 32960018 single base substitution G A intron_variant MELA-AU 1 32960590 32960590 single base substitution G A intron_variant MELA-AU 1 32960617 32960617 single base substitution G A intron_variant MELA-AU 1 32960737 32960737 single base substitution G A intron_variant MELA-AU 1 32960894 32960894 single base substitution G A intron_variant MELA-AU 1 32961097 32961097 single base substitution T A intron_variant MELA-AU 1 32963473 32963473 single base substitution G A intron_variant MELA-AU 1 32963727 32963727 single base substitution G A intron_variant MELA-AU 1 32964029 32964029 single base substitution C T intron_variant MELA-AU 1 32964073 32964073 single base substitution G A intron_variant MELA-AU 1 32964216 32964216 single base substitution G A intron_variant MELA-AU 1 32964356 32964356 single base substitution G A intron_variant MELA-AU 1 32964893 32964893 single base substitution C T intron_variant MELA-AU 1 32965254 32965254 single base substitution G A intron_variant MELA-AU 1 32965768 32965768 single base substitution G A intron_variant MELA-AU 1 32966352 32966352 single base substitution G A intron_variant MELA-AU 1 32967829 32967829 single base substitution G A intron_variant MELA-AU 1 32968186 32968186 single base substitution C T intron_variant MELA-AU 1 32968373 32968373 single base substitution G A intron_variant MELA-AU 1 32968762 32968762 single base substitution G A intron_variant MELA-AU 1 32968861 32968861 single base substitution C T intron_variant MELA-AU 1 32969020 32969020 single base substitution G A intron_variant MELA-AU 1 32969121 32969121 single base substitution G A intron_variant MELA-AU 1 32969370 32969370 single base substitution G A intron_variant MELA-AU 1 32969433 32969433 single base substitution A T intron_variant MELA-AU 1 32969504 32969504 single base substitution G A intron_variant MELA-AU 1 32969511 32969511 single base substitution C T intron_variant MELA-AU 1 32969570 32969570 single base substitution G A intron_variant MELA-AU 1 32970593 32970593 single base substitution C T intron_variant MELA-AU 1 32970721 32970721 single base substitution C T intron_variant MELA-AU 1 32970968 32970968 single base substitution G A intron_variant MELA-AU 1 32971098 32971098 single base substitution G A intron_variant MELA-AU 1 32971372 32971372 single base substitution G C intron_variant MELA-AU 1 32971433 32971433 single base substitution C T intron_variant MELA-AU 1 32971459 32971459 single base substitution A C intron_variant MELA-AU 1 32971520 32971520 single base substitution G A intron_variant MELA-AU 1 32971532 32971532 single base substitution C T intron_variant MELA-AU 1 32972281 32972281 single base substitution C T intron_variant MELA-AU 1 32972952 32972952 single base substitution G A intron_variant MELA-AU 1 32973022 32973022 single base substitution C T intron_variant MELA-AU 1 32973241 32973241 single base substitution G A intron_variant MELA-AU 1 32973285 32973285 single base substitution C T intron_variant MELA-AU 1 32973294 32973294 single base substitution C T intron_variant MELA-AU 1 32973324 32973324 single base substitution C T intron_variant MELA-AU 1 32973406 32973406 single base substitution C T intron_variant MELA-AU 1 32973474 32973474 single base substitution C T intron_variant MELA-AU 1 32973756 32973756 single base substitution C T intron_variant MELA-AU 1 32973840 32973840 single base substitution G A intron_variant MELA-AU 1 32973841 32973841 single base substitution G A intron_variant MELA-AU 1 32974563 32974563 single base substitution C T intron_variant MELA-AU 1 32974631 32974631 single base substitution G A intron_variant MELA-AU 1 32975338 32975338 single base substitution G A intron_variant MELA-AU 1 32975495 32975495 single base substitution C T intron_variant MELA-AU 1 32975515 32975515 single base substitution C T intron_variant MELA-AU 1 32975985 32975985 single base substitution C T intron_variant MELA-AU 1 32976528 32976528 single base substitution G A intron_variant MELA-AU 1 32976580 32976580 single base substitution T A intron_variant MELA-AU 1 32976624 32976624 single base substitution G A intron_variant MELA-AU 1 32976659 32976659 single base substitution C T intron_variant MELA-AU 1 32976702 32976702 single base substitution G A intron_variant MELA-AU 1 32976848 32976848 single base substitution A G intron_variant MELA-AU 1 32976889 32976889 single base substitution G A intron_variant MELA-AU 1 32977014 32977014 single base substitution G A intron_variant MELA-AU 1 32977029 32977029 single base substitution C T intron_variant MELA-AU 1 32977223 32977223 single base substitution C T intron_variant MELA-AU 1 32977451 32977451 single base substitution G A intron_variant MELA-AU 1 32977709 32977709 single base substitution G A intron_variant MELA-AU 1 32978040 32978040 single base substitution C T intron_variant MELA-AU 1 32978712 32978712 single base substitution G A intron_variant MELA-AU 1 32978727 32978727 single base substitution G A intron_variant MELA-AU 1 32979361 32979361 single base substitution G A intron_variant MELA-AU 1 32979658 32979658 single base substitution G A intron_variant MELA-AU 1 32979797 32979797 single base substitution G A intron_variant MELA-AU 1 32979847 32979847 single base substitution G A intron_variant MELA-AU 1 32979905 32979905 single base substitution C T intron_variant MELA-AU 1 32979911 32979911 single base substitution G A intron_variant MELA-AU 1 32980329 32980329 single base substitution A T intron_variant MELA-AU 1 32980671 32980671 single base substitution G A intron_variant MELA-AU 1 32980719 32980719 single base substitution G A intron_variant MELA-AU 1 32981021 32981021 single base substitution C T intron_variant MELA-AU 1 32981212 32981212 single base substitution G A intron_variant MELA-AU 1 32981325 32981325 single base substitution G A intron_variant MELA-AU 1 32981468 32981468 single base substitution T A intron_variant MELA-AU 1 32981604 32981604 single base substitution G A intron_variant MELA-AU 1 32981676 32981676 single base substitution G A intron_variant MELA-AU 1 32981784 32981784 single base substitution C T intron_variant MELA-AU 1 32982177 32982177 single base substitution C T intron_variant MELA-AU 1 32982193 32982193 single base substitution G A intron_variant MELA-AU 1 32982254 32982254 single base substitution G A intron_variant MELA-AU 1 32982284 32982284 single base substitution C T intron_variant MELA-AU 1 32982370 32982370 single base substitution C T intron_variant MELA-AU 1 32982889 32982889 single base substitution A G intron_variant MELA-AU 1 32982895 32982895 single base substitution T C intron_variant MELA-AU 1 32982972 32982972 single base substitution G A intron_variant MELA-AU 1 32983070 32983070 single base substitution C T intron_variant MELA-AU 1 32983181 32983181 single base substitution T C intron_variant MELA-AU 1 32983476 32983476 single base substitution C T intron_variant MELA-AU 1 32983685 32983685 single base substitution G A intron_variant MELA-AU 1 32983773 32983773 single base substitution C T intron_variant MELA-AU 1 32983776 32983776 single base substitution C T intron_variant MELA-AU 1 32984087 32984087 single base substitution C T intron_variant MELA-AU 1 32984549 32984549 single base substitution C T intron_variant MELA-AU 1 32984703 32984703 single base substitution A C intron_variant MELA-AU 1 32985437 32985437 single base substitution G A intron_variant MELA-AU 1 32985627 32985627 single base substitution G A intron_variant MELA-AU 1 32985829 32985829 single base substitution G A intron_variant MELA-AU 1 32985869 32985869 single base substitution C T intron_variant MELA-AU 1 32985934 32985934 single base substitution C T intron_variant MELA-AU 1 32986029 32986029 single base substitution T C intron_variant MELA-AU 1 32986217 32986217 single base substitution G A intron_variant MELA-AU 1 32986811 32986811 single base substitution G A intron_variant MELA-AU 1 32986889 32986890 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 32987028 32987028 single base substitution C T intron_variant MELA-AU 1 32987852 32987852 single base substitution C T intron_variant MELA-AU 1 32988076 32988076 single base substitution A G intron_variant MELA-AU 1 32988429 32988429 single base substitution C T intron_variant MELA-AU 1 32988532 32988532 single base substitution C T intron_variant MELA-AU 1 32988775 32988775 single base substitution G A intron_variant MELA-AU 1 32988812 32988812 single base substitution C T intron_variant MELA-AU 1 32989336 32989336 single base substitution A G intron_variant MELA-AU 1 32990052 32990052 single base substitution C T intron_variant MELA-AU 1 32990259 32990259 single base substitution C T intron_variant MELA-AU 1 32990544 32990544 single base substitution G A intron_variant MELA-AU 1 32991329 32991329 single base substitution A T intron_variant MELA-AU 1 32991447 32991447 single base substitution C T intron_variant MELA-AU 1 32991889 32991889 single base substitution G A intron_variant MELA-AU 1 32992078 32992078 single base substitution G A intron_variant MELA-AU 1 32992484 32992484 single base substitution G A intron_variant MELA-AU 1 32993352 32993352 single base substitution G A intron_variant MELA-AU 1 32993403 32993403 single base substitution G A intron_variant MELA-AU 1 32993463 32993463 single base substitution A T intron_variant MELA-AU 1 32993514 32993514 single base substitution G A intron_variant MELA-AU 1 32994209 32994209 single base substitution A G intron_variant MELA-AU 1 32994398 32994398 single base substitution G A intron_variant MELA-AU 1 32994715 32994715 single base substitution C G intron_variant MELA-AU 1 32995016 32995016 single base substitution C T intron_variant MELA-AU 1 32995217 32995217 single base substitution T C intron_variant MELA-AU 1 32995314 32995314 single base substitution G A intron_variant MELA-AU 1 32995672 32995672 single base substitution C T intron_variant MELA-AU 1 32995864 32995864 single base substitution C T intron_variant MELA-AU 1 32995901 32995901 single base substitution G A intron_variant MELA-AU 1 32996206 32996206 single base substitution A G intron_variant MELA-AU 1 32996240 32996240 single base substitution C T intron_variant MELA-AU 1 32996848 32996848 single base substitution A G intron_variant MELA-AU 1 32996959 32996959 single base substitution G A intron_variant MELA-AU 1 32997023 32997023 single base substitution C T intron_variant MELA-AU 1 32997221 32997221 single base substitution G A intron_variant MELA-AU 1 32997774 32997774 single base substitution C T intron_variant MELA-AU 1 32998132 32998132 single base substitution C T intron_variant MELA-AU 1 32998199 32998199 single base substitution G A intron_variant MELA-AU 1 32998596 32998596 single base substitution A G intron_variant MELA-AU 1 32998968 32998968 single base substitution C T intron_variant MELA-AU 1 32999148 32999148 single base substitution G A intron_variant MELA-AU 1 32999291 32999291 single base substitution T A intron_variant MELA-AU 1 32999685 32999685 single base substitution C T intron_variant MELA-AU 1 33000480 33000481 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 33000628 33000628 single base substitution A T intron_variant MELA-AU 1 33000759 33000759 single base substitution C T intron_variant MELA-AU 1 33001084 33001084 single base substitution A G intron_variant MELA-AU 1 33001094 33001094 single base substitution G A intron_variant MELA-AU 1 33001365 33001365 single base substitution C T intron_variant MELA-AU 1 33002047 33002047 single base substitution G A intron_variant MELA-AU 1 33002088 33002088 single base substitution G A splice_region_variant MELA-AU 1 33002548 33002549 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 33002682 33002682 single base substitution G A intron_variant MELA-AU 1 33002734 33002734 single base substitution C T intron_variant MELA-AU 1 33003075 33003075 single base substitution G A intron_variant MELA-AU 1 33003215 33003215 single base substitution G A intron_variant MELA-AU 1 33003335 33003335 single base substitution C T intron_variant MELA-AU 1 33003387 33003387 single base substitution G A intron_variant MELA-AU 1 33003665 33003665 single base substitution G A intron_variant MELA-AU 1 33006488 33006489 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 33006757 33006758 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 33006920 33006920 single base substitution C T intron_variant MELA-AU 1 33007358 33007358 single base substitution C A intron_variant MELA-AU 1 33009381 33009381 single base substitution C T intron_variant MELA-AU 1 33010172 33010172 single base substitution C T intron_variant MELA-AU 1 33010675 33010675 single base substitution C T intron_variant MELA-AU 1 33010773 33010773 single base substitution C T intron_variant MELA-AU 1 33010997 33010997 single base substitution T A intron_variant MELA-AU 1 33011300 33011300 single base substitution C T intron_variant MELA-AU 1 33011343 33011343 single base substitution T G intron_variant MELA-AU 1 33011561 33011561 single base substitution C T intron_variant MELA-AU 1 33012749 33012749 single base substitution C T intron_variant MELA-AU 1 33013064 33013064 single base substitution C T intron_variant MELA-AU 1 33013357 33013357 single base substitution C T intron_variant MELA-AU 1 33014334 33014334 single base substitution A T intron_variant MELA-AU 1 33015382 33015382 single base substitution C T intron_variant MELA-AU 1 33015428 33015428 single base substitution C T intron_variant MELA-AU 1 33015876 33015876 single base substitution C T intron_variant MELA-AU 1 33016126 33016126 single base substitution G A intron_variant MELA-AU 1 33016139 33016139 single base substitution C T intron_variant MELA-AU 1 33016249 33016249 single base substitution G A intron_variant MELA-AU 1 33016335 33016335 single base substitution G A intron_variant MELA-AU 1 33016367 33016368 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 1 33016526 33016526 single base substitution C T intron_variant MELA-AU 1 33017332 33017332 single base substitution C T intron_variant MELA-AU 1 33017744 33017744 single base substitution C T intron_variant MELA-AU 1 33018298 33018298 single base substitution T C intron_variant MELA-AU 1 33019100 33019100 single base substitution C T 3_prime_UTR_variant MELA-AU 1 33019481 33019481 single base substitution C T intron_variant MELA-AU 1 33019720 33019720 single base substitution C T intron_variant MELA-AU 1 33020062 33020065 deletion of <=200bp TTTA - intron_variant MELA-AU 1 33020708 33020708 single base substitution C T intron_variant MELA-AU 1 33021158 33021158 single base substitution C T intron_variant MELA-AU 1 33021262 33021263 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 33021304 33021304 single base substitution C T intron_variant MELA-AU 1 33021632 33021632 single base substitution C T intron_variant MELA-AU 1 33021716 33021716 single base substitution C T intron_variant MELA-AU 1 33021926 33021926 single base substitution C T intron_variant MELA-AU 1 33022158 33022158 single base substitution C T intron_variant MELA-AU 1 33022653 33022653 single base substitution A T intron_variant MELA-AU 1 33022700 33022700 single base substitution C T intron_variant MELA-AU 1 33023888 33023888 single base substitution C T intron_variant MELA-AU 1 33024151 33024151 single base substitution C T intron_variant MELA-AU 1 33024180 33024180 single base substitution C T intron_variant MELA-AU 1 33024192 33024192 single base substitution C T intron_variant MELA-AU 1 33024538 33024538 single base substitution C T intron_variant MELA-AU 1 33024804 33024804 single base substitution C T intron_variant MELA-AU 1 33024816 33024816 single base substitution C T intron_variant MELA-AU 1 33025336 33025336 single base substitution G A intron_variant MELA-AU 1 33025422 33025422 single base substitution T C intron_variant MELA-AU 1 33025568 33025568 single base substitution G A intron_variant MELA-AU 1 33025990 33025991 multiple base substitution (>=2bp and <=200bp) GG AC intron_variant MELA-AU 1 33027207 33027207 single base substitution G A intron_variant MELA-AU 1 33027209 33027209 single base substitution T C intron_variant MELA-AU 1 33027579 33027579 single base substitution C T intron_variant MELA-AU 1 33028342 33028342 single base substitution C T intron_variant MELA-AU 1 33028763 33028763 single base substitution C T intron_variant MELA-AU 1 33029033 33029033 single base substitution T G intron_variant MELA-AU 1 33029382 33029382 single base substitution C T intron_variant MELA-AU 1 33029765 33029765 single base substitution C T intron_variant MELA-AU 1 33030942 33030942 single base substitution G A intron_variant MELA-AU 1 33030971 33030971 single base substitution C T intron_variant MELA-AU 1 33031249 33031249 single base substitution C T intron_variant MELA-AU 1 33031685 33031685 single base substitution C T intron_variant MELA-AU 1 33031888 33031888 single base substitution T C intron_variant MELA-AU 1 33032292 33032292 single base substitution C T intron_variant MELA-AU 1 33032980 33032980 single base substitution A T intron_variant MELA-AU 1 33033175 33033175 single base substitution C T intron_variant MELA-AU 1 33033233 33033233 single base substitution A T intron_variant MELA-AU 1 33033883 33033883 single base substitution C T intron_variant MELA-AU 1 33034110 33034110 single base substitution C T intron_variant MELA-AU 1 33034185 33034185 single base substitution C T intron_variant MELA-AU 1 33035640 33035640 single base substitution T C intron_variant MELA-AU 1 33035863 33035863 single base substitution A G intron_variant MELA-AU 1 33036561 33036561 single base substitution C T intron_variant MELA-AU 1 33036721 33036721 single base substitution C T intron_variant MELA-AU 1 33037210 33037210 single base substitution C T intron_variant MELA-AU 1 33037286 33037286 single base substitution C T intron_variant MELA-AU 1 33038474 33038474 single base substitution T A intron_variant MELA-AU 1 33038660 33038660 single base substitution T C intron_variant MELA-AU 1 33038704 33038704 single base substitution C T intron_variant MELA-AU 1 33039521 33039521 single base substitution C T intron_variant MELA-AU 1 33039901 33039901 single base substitution C T intron_variant MELA-AU 1 33040646 33040646 single base substitution G A intron_variant MELA-AU 1 33041064 33041064 single base substitution G A intron_variant MELA-AU 1 33041583 33041583 single base substitution C T intron_variant MELA-AU 1 33041890 33041890 single base substitution C T intron_variant MELA-AU 1 33042455 33042455 single base substitution C T intron_variant MELA-AU 1 33042606 33042606 single base substitution T C intron_variant MELA-AU 1 33042918 33042918 single base substitution C T intron_variant MELA-AU 1 33043079 33043079 single base substitution G A intron_variant MELA-AU 1 33043273 33043273 single base substitution C T intron_variant MELA-AU 1 33043297 33043297 single base substitution C T intron_variant MELA-AU 1 33043714 33043714 single base substitution C T intron_variant MELA-AU 1 33044272 33044272 single base substitution C T intron_variant MELA-AU 1 33044565 33044565 single base substitution T C intron_variant MELA-AU 1 33045454 33045454 single base substitution T G intron_variant MELA-AU 1 33045634 33045634 single base substitution C T intron_variant MELA-AU 1 33046120 33046120 single base substitution C T intron_variant MELA-AU 1 33046327 33046327 single base substitution C T intron_variant MELA-AU 1 33046328 33046328 single base substitution C G intron_variant MELA-AU 1 33046535 33046535 single base substitution C T intron_variant MELA-AU 1 33047085 33047085 single base substitution T C intron_variant MELA-AU 1 33047149 33047149 single base substitution C T intron_variant MELA-AU 1 33047458 33047458 single base substitution C T intron_variant MELA-AU 1 33047819 33047819 single base substitution G A intron_variant MELA-AU 1 33048213 33048213 single base substitution C T intron_variant MELA-AU 1 33048651 33048651 single base substitution T G intron_variant MELA-AU 1 33048696 33048696 single base substitution C T intron_variant MELA-AU 1 33048954 33048954 single base substitution C T intron_variant MELA-AU 1 33049143 33049144 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 33049759 33049759 single base substitution C T intron_variant MELA-AU 1 33049769 33049769 single base substitution C T intron_variant MELA-AU 1 33049913 33049913 single base substitution C T intron_variant MELA-AU 1 33049941 33049942 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 1 33051360 33051360 single base substitution T G intron_variant MELA-AU 1 33051802 33051802 single base substitution C T intron_variant MELA-AU 1 33052238 33052238 single base substitution C T intron_variant MELA-AU 1 33053322 33053322 single base substitution C T intron_variant MELA-AU 1 33053796 33053796 single base substitution C T intron_variant MELA-AU 1 33055169 33055169 single base substitution G T intron_variant MELA-AU 1 33055961 33055961 single base substitution G T intron_variant MELA-AU 1 33056767 33056767 single base substitution C T intron_variant MELA-AU 1 33056921 33056921 single base substitution C T intron_variant MELA-AU 1 33057867 33057867 single base substitution C T intron_variant MELA-AU 1 33058055 33058055 single base substitution C T intron_variant MELA-AU 1 33058316 33058316 single base substitution C T intron_variant MELA-AU 1 33058351 33058351 single base substitution C T intron_variant MELA-AU 1 33059482 33059482 single base substitution C T intron_variant MELA-AU 1 33059585 33059585 single base substitution G A intron_variant MELA-AU 1 33059619 33059619 single base substitution C A intron_variant MELA-AU 1 33059946 33059946 single base substitution T C intron_variant MELA-AU 1 33059956 33059956 single base substitution C T intron_variant MELA-AU 1 33060517 33060517 single base substitution C T intron_variant MELA-AU 1 33060566 33060566 single base substitution C T intron_variant MELA-AU 1 33060722 33060722 single base substitution A T 3_prime_UTR_variant MELA-AU 1 33060778 33060778 single base substitution G A 3_prime_UTR_variant MELA-AU 1 33061059 33061059 single base substitution G A intron_variant MELA-AU 1 33061367 33061367 single base substitution C T intron_variant MELA-AU 1 33061485 33061485 single base substitution C T intron_variant MELA-AU 1 33061881 33061881 single base substitution G A intron_variant MELA-AU 1 33062427 33062427 single base substitution T C intron_variant MELA-AU 1 33062991 33062991 single base substitution C A intron_variant MELA-AU 1 33063047 33063047 single base substitution C T intron_variant MELA-AU 1 33063081 33063081 single base substitution C T intron_variant MELA-AU 1 33063864 33063864 single base substitution C T intron_variant MELA-AU 1 33064636 33064636 single base substitution C T intron_variant MELA-AU 1 33064832 33064832 single base substitution G A intron_variant MELA-AU 1 33064866 33064866 single base substitution T A intron_variant MELA-AU 1 33065022 33065022 single base substitution T G intron_variant MELA-AU 1 33065068 33065068 single base substitution C T intron_variant MELA-AU 1 33065544 33065544 single base substitution C T intron_variant MELA-AU 1 33065687 33065687 single base substitution G A splice_acceptor_variant MELA-AU 1 33067616 33067617 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 1 33067653 33067653 single base substitution G A downstream_gene_variant MELA-AU 1 33068245 33068245 single base substitution G A downstream_gene_variant MELA-AU 1 33069333 33069333 single base substitution G A downstream_gene_variant MELA-AU 1 33071132 33071132 single base substitution C T downstream_gene_variant MELA-AU 1 33071293 33071293 single base substitution G A downstream_gene_variant ORCA-IN 1 32938331 32938331 single base substitution C G intron_variant ORCA-IN 1 33002928 33002928 single base substitution G T intron_variant ORCA-IN 1 33059028 33059028 single base substitution C G 3_prime_UTR_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 intron_variant OV-AU 1 32956279 32956279 single base substitution C T intron_variant OV-AU 1 32962861 32962861 single base substitution A G intron_variant OV-AU 1 32964655 32964655 single base substitution G C intron_variant OV-AU 1 32965402 32965402 single base substitution A G intron_variant OV-AU 1 32966811 32966811 single base substitution A G intron_variant OV-AU 1 32974127 32974127 single base substitution G T intron_variant OV-AU 1 32978184 32978184 single base substitution A G intron_variant OV-AU 1 32980487 32980487 single base substitution A G intron_variant OV-AU 1 32985452 32985452 single base substitution G T intron_variant OV-AU 1 32987045 32987045 single base substitution C T intron_variant OV-AU 1 32987766 32987766 single base substitution C G intron_variant OV-AU 1 32990708 32990708 single base substitution G A intron_variant OV-AU 1 32996110 32996110 single base substitution T G intron_variant OV-AU 1 32997250 32997250 single base substitution C A intron_variant OV-AU 1 32997285 32997285 single base substitution G C intron_variant OV-AU 1 33005098 33005098 single base substitution G T intron_variant OV-AU 1 33008338 33008338 single base substitution T G intron_variant OV-AU 1 33015212 33015212 single base substitution T A intron_variant OV-AU 1 33016095 33016095 single base substitution C G intron_variant OV-AU 1 33017172 33017172 single base substitution G A intron_variant OV-AU 1 33024068 33024068 single base substitution A G intron_variant OV-AU 1 33025822 33025822 single base substitution C A intron_variant OV-AU 1 33029430 33029430 single base substitution C G intron_variant OV-AU 1 33036394 33036394 single base substitution T C intron_variant OV-AU 1 33036562 33036562 single base substitution C T intron_variant OV-AU 1 33037088 33037088 single base substitution G C intron_variant OV-AU 1 33037395 33037395 single base substitution C G intron_variant OV-AU 1 33056360 33056360 single base substitution C T intron_variant OV-AU 1 33059788 33059788 single base substitution C G intron_variant OV-AU 1 33060779 33060779 deletion of <=200bp A - 3_prime_UTR_variant OV-AU 1 33062112 33062112 single base substitution G T intron_variant OV-AU 1 33062973 33062973 single base substitution A G intron_variant OV-AU 1 33064290 33064290 single base substitution A T intron_variant OV-AU 1 33068436 33068436 single base substitution G C 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 exon_variant 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 - intron_variant PACA-AU 1 32955695 32955695 single base substitution A G intron_variant PACA-AU 1 32959132 32959132 single base substitution G A intron_variant PACA-AU 1 32966445 32966445 single base substitution C A intron_variant PACA-AU 1 32973218 32973218 single base substitution C T intron_variant PACA-AU 1 32976411 32976411 single base substitution T G intron_variant PACA-AU 1 32976423 32976423 single base substitution G T intron_variant PACA-AU 1 32976472 32976472 single base substitution C T intron_variant PACA-AU 1 32979474 32979474 single base substitution G A intron_variant PACA-AU 1 32983018 32983018 single base substitution G A intron_variant PACA-AU 1 32986315 32986315 single base substitution G A intron_variant PACA-AU 1 32986579 32986579 deletion of <=200bp T - intron_variant PACA-AU 1 32988956 32988967 deletion of <=200bp TGGCATGGTTTA - intron_variant PACA-AU 1 32992728 32992728 single base substitution G A intron_variant PACA-AU 1 32995901 32995901 single base substitution G A intron_variant PACA-AU 1 32996706 32996706 insertion of <=200bp - T intron_variant PACA-AU 1 33004591 33004591 single base substitution A C intron_variant PACA-AU 1 33007936 33007936 single base substitution C G intron_variant PACA-AU 1 33013241 33013241 single base substitution A G intron_variant PACA-AU 1 33019726 33019726 single base substitution G A intron_variant PACA-AU 1 33020062 33020065 deletion of <=200bp TTTA - intron_variant PACA-AU 1 33023817 33023817 single base substitution C T intron_variant PACA-AU 1 33033342 33033342 single base substitution G A intron_variant PACA-AU 1 33037662 33037662 single base substitution G A intron_variant PACA-AU 1 33046965 33046965 single base substitution T A intron_variant PACA-AU 1 33056329 33056329 single base substitution C A intron_variant PACA-AU 1 33056730 33056730 single base substitution G T intron_variant PACA-AU 1 33057987 33057987 single base substitution C A intron_variant PACA-AU 1 33060861 33060861 single base substitution T G intron_variant PACA-AU 1 33062117 33062117 single base substitution G A intron_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 exon_variant PACA-CA 1 32936970 32936970 single base substitution T C exon_variant PACA-CA 1 32937082 32937082 single base substitution G A exon_variant 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 intron_variant PACA-CA 1 32954655 32954655 single base substitution C T intron_variant PACA-CA 1 32954873 32954873 single base substitution G T intron_variant PACA-CA 1 32958805 32958805 single base substitution G A intron_variant PACA-CA 1 32962423 32962423 single base substitution G C intron_variant PACA-CA 1 32968254 32968254 single base substitution G A intron_variant PACA-CA 1 32974268 32974268 single base substitution G A intron_variant PACA-CA 1 32979264 32979264 single base substitution A T intron_variant PACA-CA 1 32991126 32991126 single base substitution T G intron_variant PACA-CA 1 32991697 32991697 single base substitution C T intron_variant PACA-CA 1 32994189 32994189 single base substitution G A intron_variant PACA-CA 1 32997499 32997499 single base substitution T C intron_variant PACA-CA 1 32998006 32998006 single base substitution G A intron_variant PACA-CA 1 33003750 33003750 single base substitution A C intron_variant PACA-CA 1 33005180 33005180 single base substitution G C intron_variant PACA-CA 1 33006181 33006181 single base substitution C T intron_variant PACA-CA 1 33008154 33008154 single base substitution G A intron_variant PACA-CA 1 33008930 33008930 single base substitution C T intron_variant PACA-CA 1 33013191 33013191 single base substitution G A intron_variant PACA-CA 1 33014654 33014654 single base substitution T C intron_variant PACA-CA 1 33016509 33016509 single base substitution G C intron_variant PACA-CA 1 33028399 33028399 single base substitution G T intron_variant PACA-CA 1 33033495 33033495 single base substitution C T intron_variant PACA-CA 1 33034604 33034604 single base substitution C T intron_variant PACA-CA 1 33037501 33037501 insertion of <=200bp - T intron_variant PACA-CA 1 33038298 33038298 single base substitution T C intron_variant PACA-CA 1 33040217 33040217 single base substitution T A intron_variant PACA-CA 1 33046426 33046426 single base substitution C T intron_variant PACA-CA 1 33047545 33047545 single base substitution A G intron_variant PACA-CA 1 33052684 33052684 single base substitution A G intron_variant PACA-CA 1 33055169 33055169 single base substitution G C intron_variant PACA-CA 1 33058064 33058064 single base substitution C G intron_variant PACA-CA 1 33060830 33060830 single base substitution T C splice_region_variant PACA-CA 1 33064696 33064696 single base substitution C T intron_variant PACA-CA 1 33064801 33064801 single base substitution C T intron_variant PACA-CA 1 33065492 33065492 single base substitution T G intron_variant PACA-CA 1 33069373 33069373 insertion of <=200bp - T downstream_gene_variant PAEN-AU 1 32966468 32966468 single base substitution C A intron_variant PAEN-AU 1 32982885 32982885 single base substitution G A intron_variant PAEN-AU 1 32991381 32991381 single base substitution G A intron_variant PAEN-AU 1 33001093 33001093 single base substitution C T intron_variant PAEN-AU 1 33047093 33047093 single base substitution C A intron_variant PAEN-AU 1 33058670 33058670 single base substitution C T 3_prime_UTR_variant PAEN-AU 1 33059337 33059337 single base substitution A G 3_prime_UTR_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 PAEN-IT 1 33032825 33032825 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 exon_variant PBCA-DE 1 32970119 32970119 deletion of <=200bp A - intron_variant PBCA-DE 1 32970130 32970130 single base substitution T A intron_variant PBCA-DE 1 32975186 32975186 deletion of <=200bp T - intron_variant PBCA-DE 1 32984716 32984716 single base substitution C T intron_variant PBCA-DE 1 32985024 32985024 single base substitution C T intron_variant PBCA-DE 1 32986337 32986337 single base substitution C T intron_variant PBCA-DE 1 32992595 32992595 single base substitution C T intron_variant PBCA-DE 1 32995691 32995691 single base substitution C T intron_variant PBCA-DE 1 33004589 33004589 single base substitution G A intron_variant PBCA-DE 1 33007142 33007142 single base substitution C T intron_variant PBCA-DE 1 33010894 33010894 single base substitution T C intron_variant PBCA-DE 1 33018909 33018909 single base substitution C T intron_variant PBCA-DE 1 33024040 33024040 insertion of <=200bp - AC intron_variant PBCA-DE 1 33024040 33024041 deletion of <=200bp AC - intron_variant PBCA-DE 1 33028322 33028322 single base substitution A G intron_variant PBCA-DE 1 33041116 33041116 single base substitution G A intron_variant PBCA-DE 1 33056984 33056985 deletion of <=200bp AT - intron_variant PBCA-DE 1 33057988 33057988 insertion of <=200bp - A intron_variant PBCA-DE 1 33059652 33059652 single base substitution G A intron_variant PBCA-DE 1 33065979 33065979 insertion of <=200bp - GAA 3_prime_UTR_variant 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 intron_variant PRAD-CA 1 32980032 32980032 single base substitution G A intron_variant PRAD-CA 1 32982824 32982824 single base substitution C A intron_variant PRAD-CA 1 32983165 32983165 single base substitution C T intron_variant PRAD-CA 1 32991297 32991297 single base substitution G A intron_variant PRAD-CA 1 33007774 33007774 single base substitution C T intron_variant PRAD-CA 1 33009716 33009716 single base substitution C T intron_variant PRAD-CA 1 33023132 33023132 single base substitution G A intron_variant PRAD-CA 1 33024491 33024491 single base substitution G A intron_variant PRAD-CA 1 33042481 33042481 single base substitution C T intron_variant PRAD-CA 1 33065997 33065997 single base substitution G A 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 intron_variant PRAD-UK 1 32956071 32956071 single base substitution G T intron_variant PRAD-UK 1 32958712 32958712 single base substitution G C intron_variant PRAD-UK 1 32995694 32995694 single base substitution G A intron_variant PRAD-UK 1 32999688 32999688 single base substitution T C intron_variant PRAD-UK 1 33036593 33036593 single base substitution C T intron_variant PRAD-UK 1 33049494 33049494 single base substitution G A intron_variant PRAD-UK 1 33050867 33050867 single base substitution G A intron_variant PRAD-UK 1 33066196 33066196 deletion of <=200bp G - 3_prime_UTR_variant PRAD-US 1 33065979 33065981 deletion of <=200bp GAA - 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 exon_variant RECA-EU 1 32946276 32946276 single base substitution A T intron_variant RECA-EU 1 32956747 32956747 single base substitution T G intron_variant RECA-EU 1 32959398 32959398 single base substitution A G intron_variant RECA-EU 1 32975799 32975799 single base substitution A T intron_variant RECA-EU 1 32990138 32990138 single base substitution C A intron_variant RECA-EU 1 33002401 33002401 single base substitution A T intron_variant RECA-EU 1 33003771 33003771 single base substitution G A intron_variant RECA-EU 1 33006603 33006603 single base substitution T C intron_variant RECA-EU 1 33028615 33028615 single base substitution C G intron_variant RECA-EU 1 33033415 33033415 single base substitution A C intron_variant RECA-EU 1 33039771 33039771 single base substitution G A intron_variant RECA-EU 1 33053885 33053885 single base substitution C G intron_variant RECA-EU 1 33055763 33055763 single base substitution G A intron_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 exon_variant 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 intron_variant SKCA-BR 1 32955519 32955519 single base substitution C T intron_variant SKCA-BR 1 32956336 32956336 single base substitution A C intron_variant SKCA-BR 1 32957423 32957423 single base substitution G A intron_variant SKCA-BR 1 32959809 32959809 single base substitution G A intron_variant SKCA-BR 1 32960566 32960566 single base substitution A T intron_variant SKCA-BR 1 32963020 32963020 single base substitution C T intron_variant SKCA-BR 1 32963506 32963506 single base substitution G A intron_variant SKCA-BR 1 32968508 32968508 single base substitution T A intron_variant SKCA-BR 1 32969174 32969174 single base substitution G A intron_variant SKCA-BR 1 32969541 32969541 single base substitution C T intron_variant SKCA-BR 1 32975327 32975328 deletion of <=200bp AT - intron_variant SKCA-BR 1 32975988 32975988 single base substitution C T intron_variant SKCA-BR 1 32977971 32977971 single base substitution G A intron_variant SKCA-BR 1 32979293 32979293 single base substitution G A intron_variant SKCA-BR 1 32981873 32981873 single base substitution G A intron_variant SKCA-BR 1 32983833 32983833 single base substitution C T intron_variant SKCA-BR 1 32988170 32988170 single base substitution G A intron_variant SKCA-BR 1 32989535 32989535 insertion of <=200bp - GA intron_variant SKCA-BR 1 32989967 32989967 single base substitution T C intron_variant SKCA-BR 1 32990129 32990129 single base substitution T C intron_variant SKCA-BR 1 32990758 32990758 single base substitution C T intron_variant SKCA-BR 1 32990809 32990809 single base substitution G A intron_variant SKCA-BR 1 32990881 32990881 single base substitution C T intron_variant SKCA-BR 1 32991200 32991200 single base substitution A C intron_variant SKCA-BR 1 32991973 32991973 single base substitution G A intron_variant SKCA-BR 1 32992917 32992917 single base substitution G A intron_variant SKCA-BR 1 32994421 32994423 deletion of <=200bp GAA - intron_variant SKCA-BR 1 33001769 33001769 single base substitution A G exon_variant SKCA-BR 1 33002069 33002069 single base substitution T A intron_variant SKCA-BR 1 33002773 33002773 single base substitution A T intron_variant SKCA-BR 1 33003385 33003385 single base substitution T G intron_variant SKCA-BR 1 33004387 33004387 single base substitution A G intron_variant SKCA-BR 1 33007929 33007929 single base substitution C G intron_variant SKCA-BR 1 33009087 33009087 single base substitution C T intron_variant SKCA-BR 1 33010204 33010204 single base substitution A C intron_variant SKCA-BR 1 33016387 33016387 single base substitution G A intron_variant SKCA-BR 1 33016462 33016462 single base substitution G A intron_variant SKCA-BR 1 33019436 33019436 single base substitution A G intron_variant SKCA-BR 1 33023095 33023095 single base substitution C T intron_variant SKCA-BR 1 33026212 33026212 single base substitution C T intron_variant SKCA-BR 1 33028337 33028337 single base substitution C T intron_variant SKCA-BR 1 33031802 33031802 insertion of <=200bp - CA intron_variant SKCA-BR 1 33033419 33033419 insertion of <=200bp - ACAAAC intron_variant SKCA-BR 1 33033419 33033419 single base substitution A C intron_variant SKCA-BR 1 33033421 33033421 single base substitution A C intron_variant SKCA-BR 1 33033426 33033426 insertion of <=200bp - AAAAAC intron_variant SKCA-BR 1 33035380 33035380 insertion of <=200bp - CT intron_variant SKCA-BR 1 33037275 33037275 single base substitution A G intron_variant SKCA-BR 1 33040827 33040827 insertion of <=200bp - CT intron_variant SKCA-BR 1 33041581 33041581 single base substitution C T intron_variant SKCA-BR 1 33043832 33043832 insertion of <=200bp - AT intron_variant SKCA-BR 1 33049327 33049327 single base substitution G A intron_variant SKCA-BR 1 33051352 33051355 deletion of <=200bp CCAG - intron_variant SKCA-BR 1 33054789 33054789 single base substitution T C intron_variant SKCA-BR 1 33059590 33059590 single base substitution C T intron_variant SKCA-BR 1 33059801 33059802 deletion of <=200bp AC - intron_variant SKCA-BR 1 33060573 33060573 single base substitution C T intron_variant SKCA-BR 1 33063509 33063510 deletion of <=200bp AT - intron_variant SKCM-US 1 33058852 33058852 single base substitution T C 3_prime_UTR_variant SKCM-US 1 33060732 33060732 single base substitution C T 3_prime_UTR_variant SKCM-US 1 33060754 33060754 single base substitution G A 3_prime_UTR_variant SKCM-US 1 33065969 33065969 single base substitution T C 3_prime_UTR_variant STAD-US 1 33059046 33059046 single base substitution A G 3_prime_UTR_variant STAD-US 1 33059154 33059154 deletion of <=200bp A - 3_prime_UTR_variant STAD-US 1 33059218 33059218 single base substitution G A 3_prime_UTR_variant STAD-US 1 33060694 33060694 single base substitution C A 3_prime_UTR_variant STAD-US 1 33060697 33060697 single base substitution A C 3_prime_UTR_variant STAD-US 1 33066006 33066006 single base substitution C T 3_prime_UTR_variant THCA-SA 1 32951040 32951040 single base substitution G C intron_variant UCEC-US 1 32936820 32936820 single base substitution G T exon_variant UCEC-US 1 32950888 32950888 single base substitution G T exon_variant UCEC-US 1 33058578 33058578 single base substitution G A 3_prime_UTR_variant UCEC-US 1 33058634 33058634 single base substitution C A 3_prime_UTR_variant UCEC-US 1 33060819 33060819 single base substitution C T 3_prime_UTR_variant UCEC-US 1 33065775 33065775 single base substitution C T 3_prime_UTR_variant UCEC-US 1 33065776 33065776 single base substitution G A 3_prime_UTR_variant UCEC-US 1 33065937 33065937 single base substitution G A 3_prime_UTR_variant UCEC-US 1 33065978 33065978 insertion of <=200bp - GAA 3_prime_UTR_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand SJHGG093_A COSM4971695 c.414G>A p.V138V Substitution - coding silent 1:32471038-32471038 + TCGA-E2-A10C-01 COSM1473874 c.1348G>C p.E450Q Substitution - Missense 1:32485278-32485278 + CHC892T COSM4795985 c.1118C>T p.T373I Substitution - Missense 1:32481017-32481017 + SNUH_G73_S1 COSM2078068 c.555C>A p.S185R Substitution - Missense 1:32471179-32471179 + SC_9062 COSM5548614 c.416C>T p.A139V Substitution - Missense 1:32471040-32471040 + DLD1 COSM2078060 c.486T>C p.S162S Substitution - coding silent 1:32471110-32471110 + TCGA-D8-A1XQ-01 COSM3804969 c.886G>A p.A296T Substitution - Missense 1:32471510-32471510 + 2293750 COSM4606702 c.1435G>C p.D479H Substitution - Missense 1:32485365-32485365 + 8035834 COSM4407731 c.583G>A p.G195S Substitution - Missense 1:32471207-32471207 + S02209 COSM5675020 c.771C>T p.H257H Substitution - coding silent 1:32471395-32471395 + SC_9058 COSM5574000 c.1340_1341insCAAGG p.S448fs*>50 Insertion - Frameshift 1:32485270-32485271 + LOVO COSM4236920 c.444G>A p.A148A Substitution - coding silent 1:32471068-32471068 + LS411 COSM2078108 c.1287C>A p.D429E Substitution - Missense 1:32485217-32485217 + PT33 COSM5908049 c.577C>T p.P193S Substitution - Missense 1:32471201-32471201 + HCT8 COSM2078060 c.486T>C p.S162S Substitution - coding silent 1:32471110-32471110 + TCGA-AP-A059-01 COSM1584474 c.595G>T p.D199Y Substitution - Missense 1:32471219-32471219 + TCGA-CZ-5460-01 COSM464443 c.1414G>T p.D472Y Substitution - Missense 1:32485344-32485344 + TCGA-G4-6298-01 COSM3689608 c.1279G>A p.V427I Substitution - Missense 1:32485209-32485209 + ESCC_BICR_057T COSM5436779 c.441G>A p.A147A Substitution - coding silent 1:32471065-32471065 + PT08_2 COSM5892678 c.1184A>G p.N395S Substitution - Missense 1:32485114-32485114 + J73_T COSM3977590 c.456G>T p.A152A Substitution - coding silent 1:32471080-32471080 + RKO COSM2078074 c.677G>C p.R226P Substitution - Missense 1:32471301-32471301 + TCGA-ES-A2HT-01 COSM4938694 c.1286A>G p.D429G Substitution - Missense 1:32485216-32485216 + YUKAT COSM5380658 c.356G>A p.R119K Substitution - Missense 1:32470980-32470980 + 587338 COSM1233176 c.1150C>A p.L384M Substitution - Missense 1:32481049-32481049 + S00830 COSM5660220 c.261G>T p.K87N Substitution - Missense 1:32470885-32470885 + 8012854 COSM1158903 c.952_955delATGA p.M318fs*71 Deletion - Frameshift 1:32471576-32471579 + HCT15 COSM2078060 c.486T>C p.S162S Substitution - coding silent 1:32471110-32471110 + SJBALL021507_D1 COSM4994145 c.1472G>A p.R491Q Substitution - Missense 1:32485402-32485402 + SJHGG034_D COSM2078056 c.367G>A p.D123N Substitution - Missense 1:32470991-32470991 + TCGA-BP-4170-01 COSM3360848 c.51G>A p.Q17Q Substitution - coding silent 1:32470675-32470675 + BCM275T COSM4949425 c.147C>G p.F49L Substitution - Missense 1:32470771-32470771 + SJHGG109_A COSM4971929 c.1254C>T p.F418F Substitution - coding silent 1:32485184-32485184 + 587376 COSM1233178 c.848C>T p.A283V Substitution - Missense 1:32471472-32471472 + Au4 COSM5605379 c.313C>T p.L105L Substitution - coding silent 1:32470937-32470937 + BCM275T COSM4949425 c.147C>G p.F49L Substitution - Missense 1:32470771-32470771 + CSCC-7-T COSM4451280 c.1142A>C p.Q381P Substitution - Missense 1:32481041-32481041 + C135 COSM1233178 c.848C>T p.A283V Substitution - Missense 1:32471472-32471472 + EGC15 COSM4752364 c.872C>T p.P291L Substitution - Missense 1:32471496-32471496 + CSCC-31-T COSM4505699 c.69C>T p.F23F Substitution - coding silent 1:32470693-32470693 + TCGA-A6-6782-01 COSM1341832 c.931G>A p.A311T Substitution - Missense 1:32471555-32471555 + YUPTER COSM5380660 c.623G>A p.R208K Substitution - Missense 1:32471247-32471247 + pfg121T COSM4752364 c.872C>T p.P291L Substitution - Missense 1:32471496-32471496 + PT08_1 COSM5892678 c.1184A>G p.N395S Substitution - Missense 1:32485114-32485114 + TCGA-AR-A24Q-01 COSM1473872 c.1000C>A p.L334M Substitution - Missense 1:32480899-32480899 + TCGA-BS-A0UF-01 COSM1584473 c.1357G>T p.E453* Substitution - Nonsense 1:32485287-32485287 + TCGA-A6-6141-01 COSM1341829 c.325G>T p.D109Y Substitution - Missense 1:32470949-32470949 + S02285 COSM5684370 c.89T>A p.V30E Substitution - Missense 1:32470713-32470713 + SNUH_G16_S1 COSM2078068 c.555C>A p.S185R Substitution - Missense 1:32471179-32471179 + SC_9081 COSM5554864 c.592G>A p.G198R Substitution - Missense 1:32471216-32471216 + CSCC-31-T COSM4490647 c.366C>T p.L122L Substitution - coding silent 1:32470990-32470990 + C0004T COSM2078082 c.857G>A p.R286H Substitution - Missense 1:32471481-32471481 + TCGA-CM-6162-01 COSM1341831 c.541G>A p.E181K Substitution - Missense 1:32471165-32471165 + CHC892T COSM4795985 c.1118C>T p.T373I Substitution - Missense 1:32481017-32481017 + UMC11 COSM2078116 c.1400C>A p.S467* Substitution - Nonsense 1:32485330-32485330 + SW403 COSM4655217 c.1246C>T p.R416W Substitution - Missense 1:32485176-32485176 + ICGC_0029 COSM1158903 c.952_955delATGA p.M318fs*71 Deletion - Frameshift 1:32471576-32471579 + Gp2D COSM4627177 c.1019T>C p.L340P Substitution - Missense 1:32480918-32480918 + CRC-06T COSM5456387 c.447A>G p.A149A Substitution - coding silent 1:32471071-32471071 + BD114T COSM5502205 c.355A>T p.R119W Substitution - Missense 1:32470979-32470979 + TCGA-AD-6888-01 COSM1341834 c.1042_1043insC p.Y348fs*25 Insertion - Frameshift 1:32480941-32480942 + PCSI_0521_Pa_P_526 COSM5761800 c.184C>T p.R62W Substitution - Missense 1:32470808-32470808 + PCSI_0240_Pa_P_526 COSM4808594 c.745T>C p.Y249H Substitution - Missense 1:32471369-32471369 + PT21_2 COSM5901103 c.982G>A p.E328K Substitution - Missense 1:32471606-32471606 + PCSI_0169_Pa_P_526 COSM2078082 c.857G>A p.R286H Substitution - Missense 1:32471481-32471481 + TCGA-D5-6928-01 COSM1341836 c.1073G>A p.R358Q Substitution - Missense 1:32480972-32480972 + TCGA-CC-A7IK-01 COSM4924848 c.1386A>C p.P462P Substitution - coding silent 1:32485316-32485316 + S00827 COSM5659404 c.35G>T p.G12V Substitution - Missense 1:32470659-32470659 + TCGA-EK-A3GK-01 COSM4853852 c.567G>C p.L189L Substitution - coding silent 1:32471191-32471191 + TCGA-FU-A3HZ-01 COSM4839541 c.1072C>T p.R358W Substitution - Missense 1:32480971-32480971 + ESCC_75 COSM5634841 c.925G>A p.E309K Substitution - Missense 1:32471549-32471549 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.647658 1p35.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A T 3-UTRSNV . c.1485+634A>T 1 32951650 HC G T Missense p.D472Y c.1414G>T 1 32950945 RCCC