Mutation - ICGC Project Code Chromosome Chromosome Start Chromosome End Mutation Type Mutated from Allele Mutated to Allele Consequence Type AA Mutation CDS Mutation BLCA-CN 2 55047566 55047566 single base substitution C A downstream_gene_variant BLCA-CN 2 55047566 55047566 single base substitution C A missense_variant N164K 492C>A BLCA-CN 2 55191742 55191742 single base substitution C T downstream_gene_variant BLCA-CN 2 55191742 55191742 single base substitution C T exon_variant BLCA-CN 2 55191742 55191742 single base substitution C T missense_variant S1789F 5366C>T BLCA-CN 2 55191742 55191742 single base substitution C T upstream_gene_variant BOCA-FR 2 55194770 55194770 single base substitution G A intron_variant BOCA-FR 2 55194770 55194770 single base substitution G A upstream_gene_variant BRCA-EU 2 54946527 54946527 single base substitution C G upstream_gene_variant BRCA-EU 2 54947769 54947769 single base substitution G C upstream_gene_variant BRCA-EU 2 54948699 54948699 single base substitution G A upstream_gene_variant BRCA-EU 2 54948805 54948805 single base substitution G A upstream_gene_variant BRCA-EU 2 54949006 54949006 single base substitution G C upstream_gene_variant BRCA-EU 2 54949538 54949538 single base substitution T G upstream_gene_variant BRCA-EU 2 54949635 54949635 single base substitution T G upstream_gene_variant BRCA-EU 2 54950037 54950037 single base substitution C G upstream_gene_variant BRCA-EU 2 54950352 54950352 single base substitution C A upstream_gene_variant BRCA-EU 2 54950505 54950505 single base substitution G A upstream_gene_variant BRCA-EU 2 54952382 54952382 single base substitution G A downstream_gene_variant BRCA-EU 2 54952382 54952382 single base substitution G A intron_variant BRCA-EU 2 54952382 54952382 single base substitution G A missense_variant D62N 184G>A BRCA-EU 2 54953549 54953549 single base substitution T C downstream_gene_variant BRCA-EU 2 54953549 54953549 single base substitution T C intron_variant BRCA-EU 2 54954842 54954842 single base substitution T C downstream_gene_variant BRCA-EU 2 54954842 54954842 single base substitution T C intron_variant BRCA-EU 2 54955578 54955578 single base substitution T G downstream_gene_variant BRCA-EU 2 54955578 54955578 single base substitution T G intron_variant BRCA-EU 2 54956981 54956981 single base substitution A C intron_variant BRCA-EU 2 54957369 54957369 deletion of <=200bp A - intron_variant BRCA-EU 2 54958102 54958102 single base substitution A T intron_variant BRCA-EU 2 54958359 54958359 single base substitution C G intron_variant BRCA-EU 2 54959116 54959116 deletion of <=200bp T - intron_variant BRCA-EU 2 54959925 54959925 single base substitution A T intron_variant BRCA-EU 2 54962724 54962724 single base substitution T C intron_variant BRCA-EU 2 54962811 54962811 single base substitution C G intron_variant BRCA-EU 2 54963999 54963999 single base substitution C G intron_variant BRCA-EU 2 54964256 54964256 single base substitution C T intron_variant BRCA-EU 2 54965248 54965248 deletion of <=200bp T - intron_variant BRCA-EU 2 54965355 54965355 single base substitution G C intron_variant BRCA-EU 2 54966124 54966124 single base substitution A C intron_variant BRCA-EU 2 54968239 54968239 single base substitution G C intron_variant BRCA-EU 2 54970274 54970274 single base substitution G A intron_variant BRCA-EU 2 54970637 54970637 single base substitution G C intron_variant BRCA-EU 2 54970878 54970878 insertion of <=200bp - T intron_variant BRCA-EU 2 54971352 54971352 single base substitution A G intron_variant BRCA-EU 2 54975460 54975460 single base substitution C T intron_variant BRCA-EU 2 54976603 54976603 single base substitution G C intron_variant BRCA-EU 2 54977542 54977542 single base substitution C T intron_variant BRCA-EU 2 54978692 54978692 single base substitution A T intron_variant BRCA-EU 2 54979320 54979320 deletion of <=200bp T - intron_variant BRCA-EU 2 54979715 54979715 single base substitution A G intron_variant BRCA-EU 2 54980288 54980288 single base substitution C G intron_variant BRCA-EU 2 54980314 54980314 single base substitution C T intron_variant BRCA-EU 2 54982985 54982985 single base substitution C A intron_variant BRCA-EU 2 54983804 54983804 single base substitution T C intron_variant BRCA-EU 2 54985514 54985514 single base substitution G T intron_variant BRCA-EU 2 54985733 54985733 single base substitution A T intron_variant BRCA-EU 2 54986058 54986058 single base substitution C A intron_variant BRCA-EU 2 54987007 54987008 deletion of <=200bp AT - intron_variant BRCA-EU 2 54989503 54989503 single base substitution T A intron_variant BRCA-EU 2 54989840 54989871 deletion of <=200bp CTTCTGACATGCTTTATAAATTTGTGTAGCAT - intron_variant BRCA-EU 2 54992047 54992047 single base substitution G A intron_variant BRCA-EU 2 54993209 54993209 single base substitution C G intron_variant BRCA-EU 2 54993824 54993824 single base substitution T C intron_variant BRCA-EU 2 54993834 54993834 single base substitution A T intron_variant BRCA-EU 2 54994838 54994838 single base substitution C T intron_variant BRCA-EU 2 54995599 54995599 single base substitution C A intron_variant BRCA-EU 2 54997261 54997261 single base substitution T G intron_variant BRCA-EU 2 54998598 54998598 single base substitution A G intron_variant BRCA-EU 2 54999416 54999416 single base substitution G A intron_variant BRCA-EU 2 55000420 55000420 single base substitution A T intron_variant BRCA-EU 2 55000675 55000675 single base substitution G C intron_variant BRCA-EU 2 55001573 55001573 single base substitution G C intron_variant BRCA-EU 2 55002288 55002288 single base substitution A G intron_variant BRCA-EU 2 55005259 55005259 deletion of <=200bp T - intron_variant BRCA-EU 2 55005290 55005290 single base substitution C G intron_variant BRCA-EU 2 55006551 55006551 single base substitution C T intron_variant BRCA-EU 2 55010438 55010438 single base substitution G A intron_variant BRCA-EU 2 55010674 55010674 single base substitution C G intron_variant BRCA-EU 2 55010828 55010828 single base substitution T A intron_variant BRCA-EU 2 55010944 55010944 single base substitution C G intron_variant BRCA-EU 2 55011095 55011095 deletion of <=200bp T - intron_variant BRCA-EU 2 55011565 55011565 single base substitution C T intron_variant BRCA-EU 2 55011803 55011803 single base substitution C A intron_variant BRCA-EU 2 55011832 55011832 deletion of <=200bp T - intron_variant BRCA-EU 2 55012138 55012138 single base substitution C T intron_variant BRCA-EU 2 55012151 55012151 single base substitution G A intron_variant BRCA-EU 2 55013192 55013192 single base substitution C A intron_variant BRCA-EU 2 55013754 55013754 single base substitution C T intron_variant BRCA-EU 2 55014728 55014728 single base substitution G T intron_variant BRCA-EU 2 55014875 55014875 single base substitution C G intron_variant BRCA-EU 2 55015206 55015206 single base substitution C A intron_variant BRCA-EU 2 55016198 55016198 single base substitution T C intron_variant BRCA-EU 2 55016422 55016422 single base substitution G A intron_variant BRCA-EU 2 55016455 55016455 single base substitution C A intron_variant BRCA-EU 2 55017796 55017796 single base substitution T C intron_variant BRCA-EU 2 55018619 55018619 single base substitution C A intron_variant BRCA-EU 2 55018908 55018908 single base substitution C T intron_variant BRCA-EU 2 55019772 55019772 single base substitution T A intron_variant BRCA-EU 2 55019852 55019852 single base substitution A G intron_variant BRCA-EU 2 55019977 55019977 single base substitution T A intron_variant BRCA-EU 2 55019980 55019980 single base substitution T G intron_variant BRCA-EU 2 55020334 55020334 single base substitution G A intron_variant BRCA-EU 2 55020687 55020687 single base substitution C T intron_variant BRCA-EU 2 55021562 55021562 single base substitution G C intron_variant BRCA-EU 2 55022253 55022253 single base substitution A G intron_variant BRCA-EU 2 55022458 55022458 single base substitution G C intron_variant BRCA-EU 2 55023409 55023409 single base substitution A T intron_variant BRCA-EU 2 55023459 55023459 single base substitution C G intron_variant BRCA-EU 2 55023580 55023580 deletion of <=200bp T - intron_variant BRCA-EU 2 55024986 55024986 deletion of <=200bp T - intron_variant BRCA-EU 2 55025424 55025424 single base substitution C T intron_variant BRCA-EU 2 55029656 55029656 single base substitution C T intron_variant BRCA-EU 2 55030923 55030923 single base substitution G A intron_variant BRCA-EU 2 55030932 55030932 single base substitution G C intron_variant BRCA-EU 2 55030934 55030934 single base substitution A T intron_variant BRCA-EU 2 55031138 55031138 single base substitution A T intron_variant BRCA-EU 2 55032458 55032458 single base substitution G A intron_variant BRCA-EU 2 55032463 55032463 single base substitution G A intron_variant BRCA-EU 2 55032976 55032976 single base substitution G C intron_variant BRCA-EU 2 55033588 55033588 deletion of <=200bp A - intron_variant BRCA-EU 2 55033719 55033719 single base substitution C T intron_variant BRCA-EU 2 55033828 55033828 single base substitution C T intron_variant BRCA-EU 2 55035173 55035173 deletion of <=200bp C - intron_variant BRCA-EU 2 55035579 55035579 single base substitution G T intron_variant BRCA-EU 2 55035911 55035911 single base substitution C G intron_variant BRCA-EU 2 55036028 55036028 single base substitution G C intron_variant BRCA-EU 2 55037221 55037221 single base substitution C T intron_variant BRCA-EU 2 55037431 55037431 single base substitution A G intron_variant BRCA-EU 2 55037892 55037892 single base substitution T A intron_variant BRCA-EU 2 55038988 55038988 single base substitution G A intron_variant BRCA-EU 2 55040529 55040529 single base substitution G C splice_donor_variant BRCA-EU 2 55045246 55045246 single base substitution T A downstream_gene_variant BRCA-EU 2 55045246 55045246 single base substitution T A intron_variant BRCA-EU 2 55046293 55046293 single base substitution C T downstream_gene_variant BRCA-EU 2 55046293 55046293 single base substitution C T intron_variant BRCA-EU 2 55046715 55046715 single base substitution C G downstream_gene_variant BRCA-EU 2 55046715 55046715 single base substitution C G intron_variant BRCA-EU 2 55046748 55046748 single base substitution A G downstream_gene_variant BRCA-EU 2 55046748 55046748 single base substitution A G intron_variant BRCA-EU 2 55046868 55046868 single base substitution C T downstream_gene_variant BRCA-EU 2 55046868 55046868 single base substitution C T intron_variant BRCA-EU 2 55048692 55048692 single base substitution C T downstream_gene_variant BRCA-EU 2 55048692 55048692 single base substitution C T intron_variant BRCA-EU 2 55051014 55051015 deletion of <=200bp TT - intron_variant BRCA-EU 2 55051857 55051857 single base substitution T C intron_variant BRCA-EU 2 55052231 55052231 single base substitution G C intron_variant BRCA-EU 2 55053992 55053992 single base substitution T C intron_variant BRCA-EU 2 55054126 55054126 single base substitution A G intron_variant BRCA-EU 2 55056306 55056306 single base substitution A G intron_variant BRCA-EU 2 55057473 55057473 single base substitution C T intron_variant BRCA-EU 2 55057584 55057584 single base substitution T G intron_variant BRCA-EU 2 55058048 55058048 single base substitution G C intron_variant BRCA-EU 2 55058208 55058208 deletion of <=200bp T - intron_variant BRCA-EU 2 55058907 55058907 single base substitution G C intron_variant BRCA-EU 2 55059887 55059887 single base substitution G A intron_variant BRCA-EU 2 55060541 55060541 single base substitution G C intron_variant BRCA-EU 2 55060610 55060610 single base substitution G C intron_variant BRCA-EU 2 55062672 55062672 single base substitution T G intron_variant BRCA-EU 2 55066893 55066893 single base substitution G A intron_variant BRCA-EU 2 55069713 55069713 single base substitution C A intron_variant BRCA-EU 2 55069954 55069954 single base substitution G A intron_variant BRCA-EU 2 55071201 55071201 single base substitution G A missense_variant V289M 865G>A BRCA-EU 2 55071522 55071522 single base substitution C T intron_variant BRCA-EU 2 55072053 55072053 single base substitution A T intron_variant BRCA-EU 2 55072818 55072818 single base substitution G A intron_variant BRCA-EU 2 55073329 55073329 single base substitution G A intron_variant BRCA-EU 2 55074496 55074496 single base substitution T A intron_variant BRCA-EU 2 55075493 55075493 single base substitution G C intron_variant BRCA-EU 2 55076526 55076526 single base substitution C T intron_variant BRCA-EU 2 55076526 55076526 single base substitution C T upstream_gene_variant BRCA-EU 2 55077223 55077223 single base substitution G T missense_variant A438S 1312G>T BRCA-EU 2 55077223 55077223 single base substitution G T upstream_gene_variant BRCA-EU 2 55078392 55078392 deletion of <=200bp A - intron_variant BRCA-EU 2 55078392 55078392 deletion of <=200bp A - upstream_gene_variant BRCA-EU 2 55078610 55078610 single base substitution A G intron_variant BRCA-EU 2 55078610 55078610 single base substitution A G upstream_gene_variant BRCA-EU 2 55078635 55078635 single base substitution G T intron_variant BRCA-EU 2 55078635 55078635 single base substitution G T upstream_gene_variant BRCA-EU 2 55078712 55078712 single base substitution C T intron_variant BRCA-EU 2 55078712 55078712 single base substitution C T upstream_gene_variant BRCA-EU 2 55079639 55079639 single base substitution G C intron_variant BRCA-EU 2 55079639 55079639 single base substitution G C upstream_gene_variant BRCA-EU 2 55080466 55080466 insertion of <=200bp - T intron_variant BRCA-EU 2 55080466 55080466 insertion of <=200bp - T upstream_gene_variant BRCA-EU 2 55081022 55081022 single base substitution A G intron_variant BRCA-EU 2 55088182 55088182 deletion of <=200bp T - intron_variant BRCA-EU 2 55088461 55088461 single base substitution C T intron_variant BRCA-EU 2 55088668 55088668 single base substitution C G intron_variant BRCA-EU 2 55089713 55089713 single base substitution A G intron_variant BRCA-EU 2 55090276 55090276 insertion of <=200bp - T intron_variant BRCA-EU 2 55090703 55090703 single base substitution A T intron_variant BRCA-EU 2 55091166 55091166 single base substitution T C intron_variant BRCA-EU 2 55091620 55091620 single base substitution G A intron_variant BRCA-EU 2 55091854 55091868 deletion of <=200bp TTGCCCATGTCCACG - intron_variant BRCA-EU 2 55092025 55092025 single base substitution G C intron_variant BRCA-EU 2 55092027 55092027 single base substitution A C intron_variant BRCA-EU 2 55092244 55092244 single base substitution G A intron_variant BRCA-EU 2 55092653 55092653 single base substitution A G intron_variant BRCA-EU 2 55093849 55093849 single base substitution T G intron_variant BRCA-EU 2 55094115 55094115 single base substitution C A exon_variant BRCA-EU 2 55094115 55094115 single base substitution C A intron_variant BRCA-EU 2 55094222 55094222 single base substitution G A exon_variant BRCA-EU 2 55094222 55094222 single base substitution G A intron_variant BRCA-EU 2 55094240 55094240 single base substitution T A exon_variant BRCA-EU 2 55094240 55094240 single base substitution T A intron_variant BRCA-EU 2 55095311 55095311 insertion of <=200bp - T exon_variant BRCA-EU 2 55095311 55095311 insertion of <=200bp - T intron_variant BRCA-EU 2 55097122 55097122 single base substitution G A intron_variant BRCA-EU 2 55097460 55097460 single base substitution T A intron_variant BRCA-EU 2 55097469 55097469 single base substitution A T intron_variant BRCA-EU 2 55098201 55098201 single base substitution G A intron_variant BRCA-EU 2 55098779 55098780 deletion of <=200bp GA - intron_variant BRCA-EU 2 55103754 55103754 single base substitution G C intron_variant BRCA-EU 2 55103950 55103950 single base substitution C G intron_variant BRCA-EU 2 55104695 55104695 single base substitution C G intron_variant BRCA-EU 2 55105566 55105566 single base substitution C T intron_variant BRCA-EU 2 55105723 55105723 single base substitution T C intron_variant BRCA-EU 2 55109349 55109349 single base substitution C T exon_variant BRCA-EU 2 55109349 55109349 single base substitution C T intron_variant BRCA-EU 2 55109691 55109691 single base substitution C T exon_variant BRCA-EU 2 55109691 55109691 single base substitution C T intron_variant BRCA-EU 2 55109722 55109722 single base substitution G A exon_variant BRCA-EU 2 55109722 55109722 single base substitution G A intron_variant BRCA-EU 2 55110004 55110004 single base substitution A G exon_variant BRCA-EU 2 55110004 55110004 single base substitution A G intron_variant BRCA-EU 2 55110415 55110415 single base substitution G T downstream_gene_variant BRCA-EU 2 55110415 55110415 single base substitution G T intron_variant BRCA-EU 2 55111412 55111412 single base substitution G A downstream_gene_variant BRCA-EU 2 55111412 55111412 single base substitution G A intron_variant BRCA-EU 2 55112309 55112309 single base substitution C T downstream_gene_variant BRCA-EU 2 55112309 55112309 single base substitution C T intron_variant BRCA-EU 2 55112598 55112599 deletion of <=200bp TT - downstream_gene_variant BRCA-EU 2 55112598 55112599 deletion of <=200bp TT - intron_variant BRCA-EU 2 55113247 55113247 single base substitution C T downstream_gene_variant BRCA-EU 2 55113247 55113247 single base substitution C T intron_variant BRCA-EU 2 55114841 55114841 single base substitution G A downstream_gene_variant BRCA-EU 2 55114841 55114841 single base substitution G A intron_variant BRCA-EU 2 55116200 55116200 single base substitution T A intron_variant BRCA-EU 2 55116485 55116485 single base substitution G T intron_variant BRCA-EU 2 55117669 55117669 deletion of <=200bp C - intron_variant BRCA-EU 2 55118348 55118348 single base substitution G T intron_variant BRCA-EU 2 55119151 55119151 single base substitution C T intron_variant BRCA-EU 2 55120259 55120259 single base substitution G C intron_variant BRCA-EU 2 55120464 55120464 single base substitution G A intron_variant BRCA-EU 2 55121541 55121541 single base substitution G A intron_variant BRCA-EU 2 55122352 55122352 single base substitution T A intron_variant BRCA-EU 2 55123812 55123812 single base substitution C T intron_variant BRCA-EU 2 55124632 55124632 single base substitution A C intron_variant BRCA-EU 2 55124782 55124782 single base substitution C T intron_variant BRCA-EU 2 55125018 55125018 single base substitution C G intron_variant BRCA-EU 2 55125318 55125318 single base substitution C T intron_variant BRCA-EU 2 55125557 55125557 single base substitution G A intron_variant BRCA-EU 2 55126040 55126040 deletion of <=200bp A - intron_variant BRCA-EU 2 55126804 55126804 single base substitution G T synonymous_variant G1003G 3009G>T BRCA-EU 2 55129806 55129806 single base substitution G C intron_variant BRCA-EU 2 55131826 55131826 single base substitution A G intron_variant BRCA-EU 2 55132534 55132534 single base substitution G T intron_variant BRCA-EU 2 55132616 55132616 single base substitution G C intron_variant BRCA-EU 2 55134568 55134568 single base substitution C T intron_variant BRCA-EU 2 55134595 55134595 single base substitution G C intron_variant BRCA-EU 2 55136545 55136545 single base substitution C A intron_variant BRCA-EU 2 55137884 55137884 single base substitution A G intron_variant BRCA-EU 2 55137889 55137889 single base substitution A C intron_variant BRCA-EU 2 55137968 55137968 single base substitution G C intron_variant BRCA-EU 2 55138130 55138130 deletion of <=200bp T - frameshift_variant L1150 BRCA-EU 2 55139485 55139485 single base substitution C T intron_variant BRCA-EU 2 55139561 55139561 single base substitution G C intron_variant BRCA-EU 2 55140077 55140077 single base substitution G C intron_variant BRCA-EU 2 55140442 55140442 single base substitution C T intron_variant BRCA-EU 2 55140690 55140690 single base substitution C A intron_variant BRCA-EU 2 55140693 55140693 single base substitution T G intron_variant BRCA-EU 2 55140848 55140848 single base substitution C T intron_variant BRCA-EU 2 55140910 55140910 single base substitution G A intron_variant BRCA-EU 2 55141372 55141372 single base substitution G T intron_variant BRCA-EU 2 55141871 55141871 single base substitution A G intron_variant BRCA-EU 2 55142328 55142328 single base substitution C G intron_variant BRCA-EU 2 55143043 55143043 single base substitution A G intron_variant BRCA-EU 2 55143701 55143701 single base substitution G C intron_variant BRCA-EU 2 55144682 55144682 single base substitution T C intron_variant BRCA-EU 2 55144906 55144906 deletion of <=200bp T - intron_variant BRCA-EU 2 55146885 55146885 single base substitution C G intron_variant BRCA-EU 2 55147206 55147206 single base substitution G A intron_variant BRCA-EU 2 55147269 55147269 single base substitution C G intron_variant BRCA-EU 2 55147682 55147682 single base substitution G T intron_variant BRCA-EU 2 55149524 55149524 single base substitution A T intron_variant BRCA-EU 2 55150601 55150601 single base substitution A G intron_variant BRCA-EU 2 55156919 55156919 single base substitution A G intron_variant BRCA-EU 2 55159480 55159480 single base substitution A G intron_variant BRCA-EU 2 55159752 55159752 single base substitution T C intron_variant BRCA-EU 2 55161811 55161811 single base substitution C G intron_variant BRCA-EU 2 55163650 55163650 single base substitution A G intron_variant BRCA-EU 2 55165174 55165174 deletion of <=200bp A - intron_variant BRCA-EU 2 55165971 55165971 single base substitution G A intron_variant BRCA-EU 2 55166513 55166513 single base substitution G T intron_variant BRCA-EU 2 55166695 55166695 single base substitution G A intron_variant BRCA-EU 2 55166832 55166832 single base substitution C T intron_variant BRCA-EU 2 55166940 55166940 single base substitution A T intron_variant BRCA-EU 2 55167961 55167961 single base substitution C T intron_variant BRCA-EU 2 55168051 55168051 single base substitution A G intron_variant BRCA-EU 2 55168153 55168153 single base substitution C T intron_variant BRCA-EU 2 55168287 55168287 single base substitution A C intron_variant BRCA-EU 2 55168404 55168404 single base substitution C G intron_variant BRCA-EU 2 55169096 55169096 single base substitution G A intron_variant BRCA-EU 2 55169770 55169770 single base substitution G A intron_variant BRCA-EU 2 55170138 55170138 single base substitution G A intron_variant BRCA-EU 2 55171232 55171232 single base substitution T A intron_variant BRCA-EU 2 55171232 55171232 single base substitution T A upstream_gene_variant BRCA-EU 2 55171618 55171618 single base substitution C T intron_variant BRCA-EU 2 55171618 55171618 single base substitution C T upstream_gene_variant BRCA-EU 2 55172678 55172678 single base substitution C T intron_variant BRCA-EU 2 55172678 55172678 single base substitution C T upstream_gene_variant BRCA-EU 2 55173199 55173199 single base substitution G C intron_variant BRCA-EU 2 55173199 55173199 single base substitution G C upstream_gene_variant BRCA-EU 2 55173217 55173217 single base substitution C G intron_variant BRCA-EU 2 55173217 55173217 single base substitution C G upstream_gene_variant BRCA-EU 2 55173483 55173483 insertion of <=200bp - A intron_variant BRCA-EU 2 55173483 55173483 insertion of <=200bp - A upstream_gene_variant BRCA-EU 2 55173932 55173932 single base substitution A G intron_variant BRCA-EU 2 55173932 55173932 single base substitution A G upstream_gene_variant BRCA-EU 2 55174893 55174893 single base substitution C G intron_variant BRCA-EU 2 55174893 55174893 single base substitution C G upstream_gene_variant BRCA-EU 2 55175620 55175620 single base substitution C A intron_variant BRCA-EU 2 55175620 55175620 single base substitution C A upstream_gene_variant BRCA-EU 2 55175739 55175739 single base substitution C G intron_variant BRCA-EU 2 55175739 55175739 single base substitution C G upstream_gene_variant BRCA-EU 2 55176931 55176931 insertion of <=200bp - C intron_variant BRCA-EU 2 55176931 55176931 insertion of <=200bp - C upstream_gene_variant BRCA-EU 2 55177284 55177284 single base substitution G T intron_variant BRCA-EU 2 55177284 55177284 single base substitution G T upstream_gene_variant BRCA-EU 2 55179341 55179341 single base substitution C T intron_variant BRCA-EU 2 55179341 55179341 single base substitution C T upstream_gene_variant BRCA-EU 2 55179422 55179422 single base substitution G A intron_variant BRCA-EU 2 55179422 55179422 single base substitution G A upstream_gene_variant BRCA-EU 2 55181081 55181081 single base substitution T C intron_variant BRCA-EU 2 55181081 55181081 single base substitution T C upstream_gene_variant BRCA-EU 2 55181187 55181187 single base substitution C G exon_variant BRCA-EU 2 55181187 55181187 single base substitution C G missense_variant F1460L 4380C>G BRCA-EU 2 55182405 55182405 single base substitution T C intron_variant BRCA-EU 2 55182659 55182659 single base substitution A G intron_variant BRCA-EU 2 55182793 55182793 single base substitution C T intron_variant BRCA-EU 2 55184112 55184112 single base substitution G A intron_variant BRCA-EU 2 55184763 55184763 single base substitution C T intron_variant BRCA-EU 2 55184764 55184764 single base substitution C T intron_variant BRCA-EU 2 55186505 55186505 single base substitution C G intron_variant BRCA-EU 2 55186505 55186505 single base substitution C G upstream_gene_variant BRCA-EU 2 55186535 55186535 single base substitution T C intron_variant BRCA-EU 2 55186535 55186535 single base substitution T C upstream_gene_variant BRCA-EU 2 55187465 55187465 single base substitution G T downstream_gene_variant BRCA-EU 2 55187465 55187465 single base substitution G T exon_variant BRCA-EU 2 55187465 55187465 single base substitution G T stop_gained G1655* 4963G>T BRCA-EU 2 55187465 55187465 single base substitution G T upstream_gene_variant BRCA-EU 2 55187583 55187583 single base substitution A C downstream_gene_variant BRCA-EU 2 55187583 55187583 single base substitution A C intron_variant BRCA-EU 2 55187583 55187583 single base substitution A C upstream_gene_variant BRCA-EU 2 55187700 55187700 single base substitution T C downstream_gene_variant BRCA-EU 2 55187700 55187700 single base substitution T C intron_variant BRCA-EU 2 55187700 55187700 single base substitution T C upstream_gene_variant BRCA-EU 2 55187826 55187826 single base substitution G C downstream_gene_variant BRCA-EU 2 55187826 55187826 single base substitution G C intron_variant BRCA-EU 2 55187826 55187826 single base substitution G C upstream_gene_variant BRCA-EU 2 55188670 55188670 single base substitution G C downstream_gene_variant BRCA-EU 2 55188670 55188670 single base substitution G C intron_variant BRCA-EU 2 55188670 55188670 single base substitution G C upstream_gene_variant BRCA-EU 2 55188781 55188781 single base substitution G C downstream_gene_variant BRCA-EU 2 55188781 55188781 single base substitution G C intron_variant BRCA-EU 2 55188781 55188781 single base substitution G C upstream_gene_variant BRCA-EU 2 55190182 55190182 single base substitution G C downstream_gene_variant BRCA-EU 2 55190182 55190182 single base substitution G C intron_variant BRCA-EU 2 55190182 55190182 single base substitution G C upstream_gene_variant BRCA-EU 2 55191204 55191204 single base substitution T A downstream_gene_variant BRCA-EU 2 55191204 55191204 single base substitution T A exon_variant BRCA-EU 2 55191204 55191204 single base substitution T A missense_variant M1747K 5240T>A BRCA-EU 2 55191204 55191204 single base substitution T A upstream_gene_variant BRCA-EU 2 55191669 55191669 single base substitution C A downstream_gene_variant BRCA-EU 2 55191669 55191669 single base substitution C A intron_variant BRCA-EU 2 55191669 55191669 single base substitution C A upstream_gene_variant BRCA-EU 2 55192472 55192472 single base substitution C A intron_variant BRCA-EU 2 55192472 55192472 single base substitution C A upstream_gene_variant BRCA-EU 2 55193862 55193862 single base substitution C A exon_variant BRCA-EU 2 55193862 55193862 single base substitution C A intron_variant BRCA-EU 2 55193862 55193862 single base substitution C A upstream_gene_variant BRCA-EU 2 55194172 55194172 single base substitution G C exon_variant BRCA-EU 2 55194172 55194172 single base substitution G C intron_variant BRCA-EU 2 55194172 55194172 single base substitution G C missense_variant V1844L 5530G>C BRCA-EU 2 55194172 55194172 single base substitution G C upstream_gene_variant BRCA-EU 2 55194947 55194947 single base substitution C T intron_variant BRCA-EU 2 55194947 55194947 single base substitution C T upstream_gene_variant BRCA-EU 2 55195004 55195004 single base substitution C T intron_variant BRCA-EU 2 55195004 55195004 single base substitution C T upstream_gene_variant BRCA-EU 2 55196196 55196196 single base substitution G A downstream_gene_variant BRCA-EU 2 55196196 55196196 single base substitution G A intron_variant BRCA-EU 2 55196196 55196196 single base substitution G A upstream_gene_variant BRCA-EU 2 55199255 55199255 single base substitution T C downstream_gene_variant BRCA-EU 2 55200564 55200564 single base substitution C G downstream_gene_variant BRCA-EU 2 55201223 55201223 single base substitution C G downstream_gene_variant BRCA-EU 2 55201253 55201253 single base substitution C T downstream_gene_variant BRCA-EU 2 55201965 55201965 single base substitution C T downstream_gene_variant BRCA-EU 2 55202229 55202229 single base substitution T A downstream_gene_variant BRCA-EU 2 55203051 55203051 single base substitution T A downstream_gene_variant BRCA-FR 2 54947769 54947769 single base substitution G C upstream_gene_variant BRCA-FR 2 54950805 54950805 single base substitution G A exon_variant BRCA-FR 2 54950805 54950805 single base substitution G A upstream_gene_variant BRCA-FR 2 54958543 54958543 single base substitution G T intron_variant BRCA-FR 2 54963999 54963999 single base substitution C G intron_variant BRCA-FR 2 54970274 54970274 single base substitution G A intron_variant BRCA-FR 2 54978667 54978667 single base substitution G A intron_variant BRCA-FR 2 54980288 54980288 single base substitution C G intron_variant BRCA-FR 2 54993834 54993834 single base substitution A T intron_variant BRCA-FR 2 55001573 55001573 single base substitution G C intron_variant BRCA-FR 2 55007867 55007867 single base substitution C T intron_variant BRCA-FR 2 55016198 55016198 single base substitution T C intron_variant BRCA-FR 2 55018908 55018908 single base substitution C T intron_variant BRCA-FR 2 55021562 55021562 single base substitution G C intron_variant BRCA-FR 2 55022571 55022571 single base substitution G A intron_variant BRCA-FR 2 55023459 55023459 single base substitution C G intron_variant BRCA-FR 2 55028993 55028993 single base substitution A G intron_variant BRCA-FR 2 55033719 55033719 single base substitution C T intron_variant BRCA-FR 2 55033828 55033828 single base substitution C T intron_variant BRCA-FR 2 55059887 55059887 single base substitution G A intron_variant BRCA-FR 2 55072818 55072818 single base substitution G A intron_variant BRCA-FR 2 55078549 55078549 single base substitution C G intron_variant BRCA-FR 2 55078549 55078549 single base substitution C G upstream_gene_variant BRCA-FR 2 55078816 55078816 single base substitution C G intron_variant BRCA-FR 2 55078816 55078816 single base substitution C G upstream_gene_variant BRCA-FR 2 55078853 55078853 single base substitution C G intron_variant BRCA-FR 2 55078853 55078853 single base substitution C G upstream_gene_variant BRCA-FR 2 55079959 55079959 single base substitution C G intron_variant BRCA-FR 2 55079959 55079959 single base substitution C G upstream_gene_variant BRCA-FR 2 55080699 55080699 single base substitution C A intron_variant BRCA-FR 2 55080699 55080699 single base substitution C A upstream_gene_variant BRCA-FR 2 55081075 55081075 single base substitution C G intron_variant BRCA-FR 2 55081111 55081111 single base substitution C G intron_variant BRCA-FR 2 55081242 55081242 single base substitution C A intron_variant BRCA-FR 2 55081326 55081326 single base substitution C G intron_variant BRCA-FR 2 55081663 55081663 single base substitution C G intron_variant BRCA-FR 2 55081739 55081739 single base substitution C G intron_variant BRCA-FR 2 55088461 55088461 single base substitution C T intron_variant BRCA-FR 2 55092244 55092244 single base substitution G A intron_variant BRCA-FR 2 55094115 55094115 single base substitution C A exon_variant BRCA-FR 2 55094115 55094115 single base substitution C A intron_variant BRCA-FR 2 55109065 55109065 single base substitution G C exon_variant BRCA-FR 2 55109065 55109065 single base substitution G C intron_variant BRCA-FR 2 55113247 55113247 single base substitution C T downstream_gene_variant BRCA-FR 2 55113247 55113247 single base substitution C T intron_variant BRCA-FR 2 55114841 55114841 single base substitution G A downstream_gene_variant BRCA-FR 2 55114841 55114841 single base substitution G A intron_variant BRCA-FR 2 55125996 55125996 single base substitution T A intron_variant BRCA-FR 2 55129806 55129806 single base substitution G C intron_variant BRCA-FR 2 55133948 55133948 single base substitution C T intron_variant BRCA-FR 2 55144777 55144777 single base substitution C T intron_variant BRCA-FR 2 55147206 55147206 single base substitution G A intron_variant BRCA-FR 2 55149524 55149524 single base substitution A T intron_variant BRCA-FR 2 55166695 55166695 single base substitution G A intron_variant BRCA-FR 2 55166940 55166940 single base substitution A T intron_variant BRCA-FR 2 55167069 55167069 single base substitution C T intron_variant BRCA-UK 2 54993209 54993209 single base substitution C G intron_variant BRCA-UK 2 55010828 55010828 single base substitution T A intron_variant BRCA-UK 2 55018880 55018880 single base substitution A C intron_variant BRCA-UK 2 55034027 55034027 single base substitution G A intron_variant BRCA-UK 2 55037112 55037112 single base substitution G A intron_variant BRCA-UK 2 55046715 55046715 single base substitution C G downstream_gene_variant BRCA-UK 2 55046715 55046715 single base substitution C G intron_variant BRCA-UK 2 55046748 55046748 single base substitution A G downstream_gene_variant BRCA-UK 2 55046748 55046748 single base substitution A G intron_variant BRCA-UK 2 55069716 55069716 single base substitution G C intron_variant BRCA-UK 2 55094240 55094240 single base substitution T A exon_variant BRCA-UK 2 55094240 55094240 single base substitution T A intron_variant BRCA-UK 2 55126804 55126804 single base substitution G T synonymous_variant G1003G 3009G>T BRCA-US 2 55056533 55056533 single base substitution G C missense_variant D256H 766G>C BRCA-US 2 55080895 55080895 single base substitution C G missense_variant D520E 1560C>G BRCA-US 2 55080895 55080895 single base substitution C G upstream_gene_variant BRCA-US 2 55090940 55090940 single base substitution A G exon_variant BRCA-US 2 55090940 55090940 single base substitution A G missense_variant S616G 1846A>G BRCA-US 2 55090994 55090994 single base substitution G A exon_variant BRCA-US 2 55090994 55090994 single base substitution G A missense_variant E634K 1900G>A BRCA-US 2 55093957 55093957 single base substitution G A exon_variant BRCA-US 2 55093957 55093957 single base substitution G A missense_variant A663T 1987G>A BRCA-US 2 55118197 55118197 insertion of <=200bp - A frameshift_variant H815Q? BRCA-US 2 55119763 55119763 single base substitution G T synonymous_variant G904G 2712G>T BRCA-US 2 55126862 55126862 single base substitution C A missense_variant R1023S 3067C>A BRCA-US 2 55143898 55143898 single base substitution C G missense_variant I1167M 3501C>G BRCA-US 2 55143983 55143983 single base substitution G A missense_variant V1196I 3586G>A BRCA-US 2 55144045 55144045 single base substitution C T synonymous_variant F1216F 3648C>T BRCA-US 2 55155845 55155845 single base substitution A C missense_variant T1321P 3961A>C BRCA-US 2 55177837 55177837 insertion of <=200bp - C exon_variant BRCA-US 2 55177837 55177837 insertion of <=200bp - C frameshift_variant N1378N? BRCA-US 2 55177837 55177837 insertion of <=200bp - C upstream_gene_variant BRCA-US 2 55191121 55191121 single base substitution G A downstream_gene_variant BRCA-US 2 55191121 55191121 single base substitution G A splice_acceptor_variant BRCA-US 2 55191121 55191121 single base substitution G A upstream_gene_variant BRCA-US 2 55197473 55197473 single base substitution G C 3_prime_UTR_variant BRCA-US 2 55197473 55197473 single base substitution G C downstream_gene_variant BRCA-US 2 55197473 55197473 single base substitution G C exon_variant BRCA-US 2 55197473 55197473 single base substitution G C upstream_gene_variant BTCA-JP 2 54952322 54952322 single base substitution G A downstream_gene_variant BTCA-JP 2 54952322 54952322 single base substitution G A intron_variant BTCA-JP 2 54952322 54952322 single base substitution G A missense_variant G42R 124G>A BTCA-JP 2 55040414 55040414 single base substitution C T exon_variant BTCA-JP 2 55040414 55040414 single base substitution C T synonymous_variant V81V 243C>T BTCA-JP 2 55071293 55071293 single base substitution C G missense_variant I319M 957C>G BTCA-JP 2 55077334 55077334 single base substitution C T stop_gained R475* 1423C>T BTCA-JP 2 55077334 55077334 single base substitution C T upstream_gene_variant BTCA-JP 2 55077392 55077392 single base substitution C T intron_variant BTCA-JP 2 55077392 55077392 single base substitution C T upstream_gene_variant BTCA-JP 2 55086654 55086654 insertion of <=200bp - A intron_variant BTCA-JP 2 55094041 55094041 single base substitution C T exon_variant BTCA-JP 2 55094041 55094041 single base substitution C T intron_variant BTCA-JP 2 55096400 55096400 single base substitution G C exon_variant BTCA-JP 2 55096400 55096400 single base substitution G C missense_variant V712L 2134G>C BTCA-JP 2 55118230 55118230 single base substitution A T synonymous_variant P826P 2478A>T BTCA-JP 2 55118434 55118434 single base substitution C T intron_variant BTCA-JP 2 55130318 55130318 single base substitution A G missense_variant I1088V 3262A>G BTCA-JP 2 55155578 55155578 single base substitution G A synonymous_variant R1268R 3804G>A BTCA-JP 2 55177729 55177729 single base substitution T C intron_variant BTCA-JP 2 55177729 55177729 single base substitution T C upstream_gene_variant BTCA-JP 2 55197082 55197082 single base substitution G A downstream_gene_variant BTCA-JP 2 55197082 55197082 single base substitution G A intron_variant BTCA-JP 2 55197082 55197082 single base substitution G A upstream_gene_variant BTCA-JP 2 55200233 55200233 single base substitution G A downstream_gene_variant BTCA-JP 2 55200305 55200305 single base substitution C T downstream_gene_variant BTCA-JP 2 55200827 55200827 single base substitution C T downstream_gene_variant CESC-US 2 55054744 55054744 single base substitution G T synonymous_variant G189G 567G>T CESC-US 2 55071220 55071220 single base substitution G A missense_variant R295H 884G>A CESC-US 2 55074750 55074750 single base substitution C G missense_variant L393V 1177C>G CESC-US 2 55077237 55077237 single base substitution G A synonymous_variant K442K 1326G>A CESC-US 2 55077237 55077237 single base substitution G A upstream_gene_variant CESC-US 2 55077342 55077342 single base substitution C G missense_variant F477L 1431C>G CESC-US 2 55077342 55077342 single base substitution C G upstream_gene_variant CESC-US 2 55119690 55119690 single base substitution C T missense_variant S880L 2639C>T CESC-US 2 55130286 55130286 single base substitution C G missense_variant S1077C 3230C>G CESC-US 2 55130535 55130535 single base substitution C T missense_variant S1102F 3305C>T CESC-US 2 55193939 55193939 single base substitution G T exon_variant CESC-US 2 55193939 55193939 single base substitution G T intron_variant CESC-US 2 55193939 55193939 single base substitution G T upstream_gene_variant CESC-US 2 55193953 55193953 single base substitution G A exon_variant CESC-US 2 55193953 55193953 single base substitution G A intron_variant CESC-US 2 55193953 55193953 single base substitution G A upstream_gene_variant CESC-US 2 55201029 55201029 single base substitution C T downstream_gene_variant CLLE-ES 2 54995115 54995115 single base substitution A G intron_variant CLLE-ES 2 55012122 55012122 single base substitution A C intron_variant CLLE-ES 2 55016020 55016020 single base substitution T G intron_variant CLLE-ES 2 55017682 55017682 single base substitution T C intron_variant CLLE-ES 2 55026858 55026858 single base substitution G A intron_variant CLLE-ES 2 55031561 55031561 single base substitution A T intron_variant CLLE-ES 2 55046150 55046150 single base substitution C A downstream_gene_variant CLLE-ES 2 55046150 55046150 single base substitution C A intron_variant CLLE-ES 2 55079247 55079247 single base substitution G A intron_variant CLLE-ES 2 55079247 55079247 single base substitution G A upstream_gene_variant CLLE-ES 2 55105370 55105370 single base substitution C A intron_variant CLLE-ES 2 55167025 55167025 single base substitution T C intron_variant COAD-US 2 55043979 55043979 single base substitution G T exon_variant COAD-US 2 55043979 55043979 single base substitution G T missense_variant R138M 413G>T COAD-US 2 55071331 55071331 single base substitution C T missense_variant A332V 995C>T COAD-US 2 55074681 55074681 single base substitution C T missense_variant R370C 1108C>T COAD-US 2 55077114 55077114 single base substitution A G synonymous_variant V401V 1203A>G COAD-US 2 55077114 55077114 single base substitution A G upstream_gene_variant COAD-US 2 55077161 55077161 single base substitution C A missense_variant S417Y 1250C>A COAD-US 2 55077161 55077161 single base substitution C A upstream_gene_variant COAD-US 2 55086763 55086763 single base substitution G C exon_variant COAD-US 2 55086763 55086763 single base substitution G C missense_variant A584P 1750G>C COAD-US 2 55096409 55096409 single base substitution C T exon_variant COAD-US 2 55096409 55096409 single base substitution C T missense_variant R715W 2143C>T COAD-US 2 55106705 55106705 single base substitution C T exon_variant COAD-US 2 55106705 55106705 single base substitution C T missense_variant S789L 2366C>T COAD-US 2 55119795 55119795 single base substitution T C splice_donor_variant COAD-US 2 55130323 55130323 single base substitution G T missense_variant K1089N 3267G>T COAD-US 2 55130526 55130526 single base substitution C T missense_variant A1099V 3296C>T COAD-US 2 55176033 55176033 single base substitution G A exon_variant COAD-US 2 55176033 55176033 single base substitution G A missense_variant R1340Q 4019G>A COAD-US 2 55176077 55176077 deletion of <=200bp A - exon_variant COAD-US 2 55176077 55176077 deletion of <=200bp A - frameshift_variant K1355 COAD-US 2 55176085 55176085 single base substitution G T exon_variant COAD-US 2 55176085 55176085 single base substitution G T missense_variant K1357N 4071G>T COAD-US 2 55189685 55189685 single base substitution C T downstream_gene_variant COAD-US 2 55189685 55189685 single base substitution C T exon_variant COAD-US 2 55189685 55189685 single base substitution C T synonymous_variant D1665D 4995C>T COAD-US 2 55189685 55189685 single base substitution C T upstream_gene_variant COAD-US 2 55189708 55189708 deletion of <=200bp A - downstream_gene_variant COAD-US 2 55189708 55189708 deletion of <=200bp A - exon_variant COAD-US 2 55189708 55189708 deletion of <=200bp A - frameshift_variant E1673 COAD-US 2 55189708 55189708 deletion of <=200bp A - upstream_gene_variant COAD-US 2 55191256 55191256 single base substitution G A downstream_gene_variant COAD-US 2 55191256 55191256 single base substitution G A exon_variant COAD-US 2 55191256 55191256 single base substitution G A synonymous_variant G1764G 5292G>A COAD-US 2 55191256 55191256 single base substitution G A upstream_gene_variant COAD-US 2 55191263 55191263 deletion of <=200bp C - downstream_gene_variant COAD-US 2 55191263 55191263 deletion of <=200bp C - exon_variant COAD-US 2 55191263 55191263 deletion of <=200bp C - frameshift_variant R1767 COAD-US 2 55191263 55191263 deletion of <=200bp C - upstream_gene_variant COAD-US 2 55200965 55200965 single base substitution G A downstream_gene_variant COCA-CN 2 55047396 55047396 single base substitution A C downstream_gene_variant COCA-CN 2 55047396 55047396 single base substitution A C intron_variant COCA-CN 2 55047517 55047517 single base substitution A C downstream_gene_variant COCA-CN 2 55047517 55047517 single base substitution A C intron_variant COCA-CN 2 55054743 55054743 single base substitution G C missense_variant G189A 566G>C COCA-CN 2 55074724 55074724 single base substitution G A missense_variant G384D 1151G>A COCA-CN 2 55077140 55077140 single base substitution T G missense_variant V410G 1229T>G COCA-CN 2 55077140 55077140 single base substitution T G upstream_gene_variant COCA-CN 2 55080913 55080913 single base substitution G A synonymous_variant A526A 1578G>A COCA-CN 2 55080913 55080913 single base substitution G A upstream_gene_variant COCA-CN 2 55106705 55106705 single base substitution C T exon_variant COCA-CN 2 55106705 55106705 single base substitution C T missense_variant S789L 2366C>T COCA-CN 2 55106708 55106708 single base substitution T C exon_variant COCA-CN 2 55106708 55106708 single base substitution T C missense_variant V790A 2369T>C COCA-CN 2 55118230 55118230 single base substitution A G synonymous_variant P826P 2478A>G COCA-CN 2 55121930 55121930 single base substitution C G intron_variant COCA-CN 2 55122506 55122506 single base substitution A G missense_variant D984G 2951A>G COCA-CN 2 55122547 55122547 single base substitution G A intron_variant COCA-CN 2 55126770 55126770 single base substitution T A splice_region_variant COCA-CN 2 55130292 55130292 single base substitution A G missense_variant H1079R 3236A>G COCA-CN 2 55130547 55130547 single base substitution T C missense_variant F1106S 3317T>C COCA-CN 2 55138272 55138272 single base substitution G A intron_variant COCA-CN 2 55138302 55138302 single base substitution G A intron_variant COCA-CN 2 55143983 55143983 single base substitution G A missense_variant V1196I 3586G>A COCA-CN 2 55155719 55155719 single base substitution A G intron_variant COCA-CN 2 55187381 55187381 single base substitution T C downstream_gene_variant COCA-CN 2 55187381 55187381 single base substitution T C exon_variant COCA-CN 2 55187381 55187381 single base substitution T C synonymous_variant L1627L 4879T>C COCA-CN 2 55187381 55187381 single base substitution T C upstream_gene_variant COCA-CN 2 55189685 55189685 single base substitution C T downstream_gene_variant COCA-CN 2 55189685 55189685 single base substitution C T exon_variant COCA-CN 2 55189685 55189685 single base substitution C T synonymous_variant D1665D 4995C>T COCA-CN 2 55189685 55189685 single base substitution C T upstream_gene_variant COCA-CN 2 55195824 55195824 single base substitution C T downstream_gene_variant COCA-CN 2 55195824 55195824 single base substitution C T exon_variant COCA-CN 2 55195824 55195824 single base substitution C T synonymous_variant F1924F 5772C>T COCA-CN 2 55195824 55195824 single base substitution C T upstream_gene_variant COCA-CN 2 55197331 55197331 single base substitution C T 3_prime_UTR_variant COCA-CN 2 55197331 55197331 single base substitution C T downstream_gene_variant COCA-CN 2 55197331 55197331 single base substitution C T exon_variant COCA-CN 2 55197331 55197331 single base substitution C T upstream_gene_variant EOPC-DE 2 54950612 54950612 single base substitution G T upstream_gene_variant EOPC-DE 2 54993404 54993404 single base substitution A G intron_variant EOPC-DE 2 55049657 55049657 single base substitution A G intron_variant EOPC-DE 2 55059896 55059896 single base substitution T C intron_variant EOPC-DE 2 55144656 55144656 single base substitution C T intron_variant EOPC-DE 2 55196841 55196841 single base substitution T A downstream_gene_variant EOPC-DE 2 55196841 55196841 single base substitution T A intron_variant EOPC-DE 2 55196841 55196841 single base substitution T A upstream_gene_variant EOPC-DE 2 55203505 55203505 single base substitution G A downstream_gene_variant ESAD-UK 2 54948606 54948606 single base substitution G T upstream_gene_variant ESAD-UK 2 54955129 54955129 single base substitution G A downstream_gene_variant ESAD-UK 2 54955129 54955129 single base substitution G A intron_variant ESAD-UK 2 54958834 54958834 single base substitution C T intron_variant ESAD-UK 2 54959316 54959316 insertion of <=200bp - T intron_variant ESAD-UK 2 54959686 54959686 single base substitution C G intron_variant ESAD-UK 2 54960157 54960157 single base substitution G C intron_variant ESAD-UK 2 54960659 54960659 single base substitution T C intron_variant ESAD-UK 2 54964017 54964017 single base substitution A G intron_variant ESAD-UK 2 54967102 54967102 single base substitution G T intron_variant ESAD-UK 2 54968590 54968590 single base substitution C T intron_variant ESAD-UK 2 54969060 54969060 single base substitution A C intron_variant ESAD-UK 2 54973012 54973012 single base substitution G A intron_variant ESAD-UK 2 54976066 54976066 single base substitution A G intron_variant ESAD-UK 2 54980063 54980063 single base substitution C A intron_variant ESAD-UK 2 54981187 54981187 single base substitution G T intron_variant ESAD-UK 2 54983794 54983794 deletion of <=200bp T - intron_variant ESAD-UK 2 54983794 54983794 insertion of <=200bp - T intron_variant ESAD-UK 2 54986179 54986179 single base substitution C T intron_variant ESAD-UK 2 54987237 54987237 single base substitution G T intron_variant ESAD-UK 2 54987737 54987737 single base substitution A T intron_variant ESAD-UK 2 54988035 54988035 single base substitution G C intron_variant ESAD-UK 2 54990122 54990122 single base substitution A G intron_variant ESAD-UK 2 54991182 54991182 single base substitution T G intron_variant ESAD-UK 2 54994092 54994092 single base substitution C T intron_variant ESAD-UK 2 54994838 54994838 single base substitution C T intron_variant ESAD-UK 2 54995039 54995039 single base substitution G A intron_variant ESAD-UK 2 54995760 54995760 single base substitution G A intron_variant ESAD-UK 2 54997251 54997251 single base substitution C T intron_variant ESAD-UK 2 54997576 54997576 single base substitution T C intron_variant ESAD-UK 2 55002258 55002258 single base substitution T C intron_variant ESAD-UK 2 55002765 55002765 single base substitution C T intron_variant ESAD-UK 2 55003075 55003075 single base substitution C T intron_variant ESAD-UK 2 55004095 55004095 deletion of <=200bp A - intron_variant ESAD-UK 2 55005921 55005921 single base substitution C T intron_variant ESAD-UK 2 55006608 55006608 single base substitution G A intron_variant ESAD-UK 2 55008310 55008310 single base substitution C T intron_variant ESAD-UK 2 55008470 55008470 single base substitution G A intron_variant ESAD-UK 2 55010528 55010528 single base substitution A G intron_variant ESAD-UK 2 55011840 55011840 single base substitution T A intron_variant ESAD-UK 2 55012444 55012444 single base substitution C T intron_variant ESAD-UK 2 55013640 55013640 single base substitution G A intron_variant ESAD-UK 2 55014710 55014710 single base substitution A G intron_variant ESAD-UK 2 55017238 55017238 single base substitution C G intron_variant ESAD-UK 2 55018865 55018865 single base substitution T A intron_variant ESAD-UK 2 55019153 55019153 single base substitution C T intron_variant ESAD-UK 2 55021875 55021875 single base substitution C A intron_variant ESAD-UK 2 55022571 55022571 single base substitution G A intron_variant ESAD-UK 2 55022944 55022944 single base substitution C T intron_variant ESAD-UK 2 55023580 55023580 deletion of <=200bp T - intron_variant ESAD-UK 2 55024261 55024261 single base substitution C G intron_variant ESAD-UK 2 55024986 55024986 deletion of <=200bp T - intron_variant ESAD-UK 2 55024993 55024993 single base substitution T A intron_variant ESAD-UK 2 55025402 55025402 single base substitution C T intron_variant ESAD-UK 2 55026171 55026171 insertion of <=200bp - T intron_variant ESAD-UK 2 55026553 55026553 single base substitution G A intron_variant ESAD-UK 2 55026628 55026628 single base substitution G A intron_variant ESAD-UK 2 55028400 55028400 single base substitution C T intron_variant ESAD-UK 2 55030370 55030370 single base substitution C T intron_variant ESAD-UK 2 55030553 55030553 insertion of <=200bp - T intron_variant ESAD-UK 2 55035173 55035173 deletion of <=200bp C - intron_variant ESAD-UK 2 55035752 55035752 single base substitution A G intron_variant ESAD-UK 2 55041630 55041632 deletion of <=200bp CTC - intron_variant ESAD-UK 2 55042543 55042543 single base substitution C A intron_variant ESAD-UK 2 55043103 55043103 single base substitution G A intron_variant ESAD-UK 2 55044209 55044209 single base substitution T C downstream_gene_variant ESAD-UK 2 55044209 55044209 single base substitution T C intron_variant ESAD-UK 2 55046060 55046060 single base substitution G C downstream_gene_variant ESAD-UK 2 55046060 55046060 single base substitution G C intron_variant ESAD-UK 2 55046658 55046658 single base substitution T C downstream_gene_variant ESAD-UK 2 55046658 55046658 single base substitution T C intron_variant ESAD-UK 2 55048482 55048482 single base substitution A C downstream_gene_variant ESAD-UK 2 55048482 55048482 single base substitution A C intron_variant ESAD-UK 2 55049385 55049385 single base substitution A G intron_variant ESAD-UK 2 55049490 55049490 single base substitution A G intron_variant ESAD-UK 2 55051067 55051067 single base substitution G C intron_variant ESAD-UK 2 55052186 55052186 single base substitution G A intron_variant ESAD-UK 2 55055009 55055009 single base substitution T A intron_variant ESAD-UK 2 55057759 55057759 single base substitution C G intron_variant ESAD-UK 2 55058446 55058446 single base substitution A C intron_variant ESAD-UK 2 55059037 55059037 single base substitution C T intron_variant ESAD-UK 2 55061039 55061039 single base substitution T G intron_variant ESAD-UK 2 55063039 55063039 single base substitution G A intron_variant ESAD-UK 2 55063120 55063120 single base substitution G A intron_variant ESAD-UK 2 55064521 55064521 single base substitution C T intron_variant ESAD-UK 2 55065838 55065838 insertion of <=200bp - T intron_variant ESAD-UK 2 55067929 55067929 single base substitution A G intron_variant ESAD-UK 2 55069575 55069575 single base substitution T G intron_variant ESAD-UK 2 55070198 55070198 single base substitution A G intron_variant ESAD-UK 2 55071308 55071308 single base substitution C T synonymous_variant C324C 972C>T ESAD-UK 2 55071706 55071706 single base substitution C T intron_variant ESAD-UK 2 55072497 55072497 single base substitution T C intron_variant ESAD-UK 2 55073862 55073862 single base substitution C A intron_variant ESAD-UK 2 55074547 55074547 single base substitution G T intron_variant ESAD-UK 2 55076617 55076617 single base substitution T G intron_variant ESAD-UK 2 55076617 55076617 single base substitution T G upstream_gene_variant ESAD-UK 2 55078148 55078148 single base substitution T G intron_variant ESAD-UK 2 55078148 55078148 single base substitution T G upstream_gene_variant ESAD-UK 2 55080132 55080132 single base substitution C T intron_variant ESAD-UK 2 55080132 55080132 single base substitution C T upstream_gene_variant ESAD-UK 2 55081120 55081120 single base substitution T G intron_variant ESAD-UK 2 55084444 55084444 single base substitution T G intron_variant ESAD-UK 2 55085999 55085999 insertion of <=200bp - G intron_variant ESAD-UK 2 55086000 55086000 single base substitution A T intron_variant ESAD-UK 2 55086043 55086043 single base substitution G T intron_variant ESAD-UK 2 55088182 55088182 deletion of <=200bp T - intron_variant ESAD-UK 2 55089781 55089781 single base substitution G T intron_variant ESAD-UK 2 55095983 55095983 single base substitution G A exon_variant ESAD-UK 2 55095983 55095983 single base substitution G A intron_variant ESAD-UK 2 55096288 55096288 single base substitution C T exon_variant ESAD-UK 2 55096288 55096288 single base substitution C T intron_variant ESAD-UK 2 55096410 55096410 single base substitution G A exon_variant ESAD-UK 2 55096410 55096410 single base substitution G A missense_variant R715Q 2144G>A ESAD-UK 2 55098000 55098000 single base substitution C T intron_variant ESAD-UK 2 55098945 55098945 deletion of <=200bp A - intron_variant ESAD-UK 2 55098993 55098993 single base substitution T G intron_variant ESAD-UK 2 55102749 55102749 single base substitution A G intron_variant ESAD-UK 2 55102773 55102773 single base substitution A G intron_variant ESAD-UK 2 55102832 55102832 single base substitution G A intron_variant ESAD-UK 2 55104628 55104628 single base substitution G C intron_variant ESAD-UK 2 55106705 55106705 single base substitution C T exon_variant ESAD-UK 2 55106705 55106705 single base substitution C T missense_variant S789L 2366C>T ESAD-UK 2 55107528 55107528 single base substitution G A exon_variant ESAD-UK 2 55107528 55107528 single base substitution G A intron_variant ESAD-UK 2 55107932 55107932 single base substitution C A exon_variant ESAD-UK 2 55107932 55107932 single base substitution C A intron_variant ESAD-UK 2 55108567 55108567 single base substitution G A exon_variant ESAD-UK 2 55108567 55108567 single base substitution G A intron_variant ESAD-UK 2 55108660 55108660 single base substitution C T exon_variant ESAD-UK 2 55108660 55108660 single base substitution C T intron_variant ESAD-UK 2 55109546 55109546 single base substitution C T exon_variant ESAD-UK 2 55109546 55109546 single base substitution C T intron_variant ESAD-UK 2 55111420 55111420 single base substitution G T downstream_gene_variant ESAD-UK 2 55111420 55111420 single base substitution G T intron_variant ESAD-UK 2 55113581 55113581 single base substitution A G downstream_gene_variant ESAD-UK 2 55113581 55113581 single base substitution A G intron_variant ESAD-UK 2 55114269 55114269 single base substitution T A downstream_gene_variant ESAD-UK 2 55114269 55114269 single base substitution T A intron_variant ESAD-UK 2 55115249 55115249 single base substitution C T intron_variant ESAD-UK 2 55115291 55115291 single base substitution G A intron_variant ESAD-UK 2 55115989 55115989 single base substitution G A intron_variant ESAD-UK 2 55117362 55117362 single base substitution G T intron_variant ESAD-UK 2 55117627 55117627 single base substitution T A intron_variant ESAD-UK 2 55122748 55122748 single base substitution C T intron_variant ESAD-UK 2 55123865 55123865 single base substitution C T intron_variant ESAD-UK 2 55125137 55125137 single base substitution G A intron_variant ESAD-UK 2 55135063 55135063 insertion of <=200bp - A intron_variant ESAD-UK 2 55135195 55135195 single base substitution A G intron_variant ESAD-UK 2 55135514 55135514 insertion of <=200bp - T intron_variant ESAD-UK 2 55139619 55139619 single base substitution G A intron_variant ESAD-UK 2 55141778 55141778 single base substitution C T intron_variant ESAD-UK 2 55145359 55145359 single base substitution T C intron_variant ESAD-UK 2 55145522 55145522 single base substitution G T intron_variant ESAD-UK 2 55146556 55146556 single base substitution G T intron_variant ESAD-UK 2 55150205 55150205 single base substitution A G intron_variant ESAD-UK 2 55150646 55150646 single base substitution A T intron_variant ESAD-UK 2 55151689 55151689 single base substitution T A intron_variant ESAD-UK 2 55151690 55151690 single base substitution T A intron_variant ESAD-UK 2 55151692 55151692 single base substitution A T intron_variant ESAD-UK 2 55151995 55151995 single base substitution C T intron_variant ESAD-UK 2 55152590 55152590 single base substitution T G intron_variant ESAD-UK 2 55153381 55153381 single base substitution G C intron_variant ESAD-UK 2 55153611 55153611 single base substitution A C intron_variant ESAD-UK 2 55154579 55154579 single base substitution G A intron_variant ESAD-UK 2 55156009 55156009 single base substitution A G intron_variant ESAD-UK 2 55158710 55158710 single base substitution C G intron_variant ESAD-UK 2 55158760 55158760 single base substitution C T intron_variant ESAD-UK 2 55160396 55160396 single base substitution A G intron_variant ESAD-UK 2 55160734 55160734 single base substitution G A intron_variant ESAD-UK 2 55160887 55160887 single base substitution A C intron_variant ESAD-UK 2 55161529 55161529 single base substitution G A intron_variant ESAD-UK 2 55162156 55162156 deletion of <=200bp T - intron_variant ESAD-UK 2 55162229 55162229 single base substitution C T intron_variant ESAD-UK 2 55164769 55164769 single base substitution T G intron_variant ESAD-UK 2 55165220 55165220 single base substitution C T intron_variant ESAD-UK 2 55165221 55165221 single base substitution G A intron_variant ESAD-UK 2 55165259 55165259 single base substitution G C intron_variant ESAD-UK 2 55165792 55165792 single base substitution G A intron_variant ESAD-UK 2 55167856 55167856 single base substitution T C intron_variant ESAD-UK 2 55170995 55170995 single base substitution G T intron_variant ESAD-UK 2 55174603 55174603 single base substitution A G intron_variant ESAD-UK 2 55174603 55174603 single base substitution A G upstream_gene_variant ESAD-UK 2 55175602 55175602 single base substitution T C intron_variant ESAD-UK 2 55175602 55175602 single base substitution T C upstream_gene_variant ESAD-UK 2 55176573 55176573 single base substitution G A intron_variant ESAD-UK 2 55176573 55176573 single base substitution G A upstream_gene_variant ESAD-UK 2 55177702 55177702 single base substitution G A intron_variant ESAD-UK 2 55177702 55177702 single base substitution G A upstream_gene_variant ESAD-UK 2 55183316 55183316 single base substitution C T intron_variant ESAD-UK 2 55185763 55185763 single base substitution G T intron_variant ESAD-UK 2 55189685 55189685 single base substitution C T downstream_gene_variant ESAD-UK 2 55189685 55189685 single base substitution C T exon_variant ESAD-UK 2 55189685 55189685 single base substitution C T synonymous_variant D1665D 4995C>T ESAD-UK 2 55189685 55189685 single base substitution C T upstream_gene_variant ESAD-UK 2 55194282 55194282 single base substitution G A exon_variant ESAD-UK 2 55194282 55194282 single base substitution G A intron_variant ESAD-UK 2 55194282 55194282 single base substitution G A upstream_gene_variant ESAD-UK 2 55194416 55194416 single base substitution G A intron_variant ESAD-UK 2 55194416 55194416 single base substitution G A upstream_gene_variant ESAD-UK 2 55195587 55195587 single base substitution G A downstream_gene_variant ESAD-UK 2 55195587 55195587 single base substitution G A intron_variant ESAD-UK 2 55195587 55195587 single base substitution G A upstream_gene_variant ESAD-UK 2 55198606 55198606 single base substitution T G 3_prime_UTR_variant ESAD-UK 2 55198606 55198606 single base substitution T G downstream_gene_variant ESAD-UK 2 55198606 55198606 single base substitution T G intron_variant ESAD-UK 2 55200789 55200789 single base substitution T C downstream_gene_variant ESCA-CN 2 55077230 55077230 single base substitution G T missense_variant R440M 1319G>T ESCA-CN 2 55077230 55077230 single base substitution G T upstream_gene_variant GACA-CN 2 55191802 55191802 single base substitution G C downstream_gene_variant GACA-CN 2 55191802 55191802 single base substitution G C exon_variant GACA-CN 2 55191802 55191802 single base substitution G C missense_variant G1809A 5426G>C GACA-CN 2 55191802 55191802 single base substitution G C upstream_gene_variant KIRC-US 2 55177820 55177820 single base substitution G T exon_variant KIRC-US 2 55177820 55177820 single base substitution G T missense_variant G1373C 4117G>T KIRC-US 2 55177820 55177820 single base substitution G T upstream_gene_variant KIRC-US 2 55177823 55177823 single base substitution T C exon_variant KIRC-US 2 55177823 55177823 single base substitution T C missense_variant F1374L 4120T>C KIRC-US 2 55177823 55177823 single base substitution T C upstream_gene_variant KIRC-US 2 55195335 55195335 single base substitution T A exon_variant KIRC-US 2 55195335 55195335 single base substitution T A missense_variant V1890E 5669T>A KIRC-US 2 55195335 55195335 single base substitution T A upstream_gene_variant KIRP-US 2 55191764 55191764 single base substitution C A downstream_gene_variant KIRP-US 2 55191764 55191764 single base substitution C A exon_variant KIRP-US 2 55191764 55191764 single base substitution C A missense_variant F1796L 5388C>A KIRP-US 2 55191764 55191764 single base substitution C A upstream_gene_variant LAML-KR 2 55029805 55029805 single base substitution G A intron_variant LAML-KR 2 55071155 55071155 single base substitution T C intron_variant LAML-KR 2 55121930 55121930 single base substitution C G intron_variant LAML-KR 2 55180996 55180996 single base substitution C T intron_variant LAML-KR 2 55180996 55180996 single base substitution C T upstream_gene_variant LAML-KR 2 55188323 55188323 single base substitution T G downstream_gene_variant LAML-KR 2 55188323 55188323 single base substitution T G intron_variant LAML-KR 2 55188323 55188323 single base substitution T G upstream_gene_variant LICA-FR 2 54963114 54963114 single base substitution G A intron_variant LICA-FR 2 54983884 54983884 single base substitution T A intron_variant LICA-FR 2 54995650 54995650 single base substitution A G intron_variant LICA-FR 2 54996094 54996094 single base substitution T C intron_variant LICA-FR 2 55002733 55002733 single base substitution T C intron_variant LICA-FR 2 55038495 55038495 single base substitution C A intron_variant LICA-FR 2 55067284 55067284 single base substitution A G intron_variant LICA-FR 2 55070378 55070378 single base substitution C T intron_variant LICA-FR 2 55088921 55088926 deletion of <=200bp TTAATC - intron_variant LICA-FR 2 55096321 55096321 single base substitution T C exon_variant LICA-FR 2 55096321 55096321 single base substitution T C synonymous_variant Y685Y 2055T>C LICA-FR 2 55109427 55109427 insertion of <=200bp - TTC exon_variant LICA-FR 2 55109427 55109427 insertion of <=200bp - TTC intron_variant LICA-FR 2 55112251 55112251 single base substitution G A downstream_gene_variant LICA-FR 2 55112251 55112251 single base substitution G A intron_variant LICA-FR 2 55122158 55122158 single base substitution C G stop_gained S950* 2849C>G LICA-FR 2 55127214 55127214 single base substitution T A intron_variant LICA-FR 2 55134462 55134462 single base substitution G A intron_variant LICA-FR 2 55138156 55138156 single base substitution C G missense_variant R1159G 3475C>G LICA-FR 2 55150505 55150505 insertion of <=200bp - CACACA intron_variant LICA-FR 2 55158669 55158669 single base substitution G A intron_variant LICA-FR 2 55171125 55171125 single base substitution T C intron_variant LICA-FR 2 55171125 55171125 single base substitution T C upstream_gene_variant LICA-FR 2 55171127 55171127 single base substitution G T intron_variant LICA-FR 2 55171127 55171127 single base substitution G T upstream_gene_variant LICA-FR 2 55185081 55185081 single base substitution C T exon_variant LICA-FR 2 55185081 55185081 single base substitution C T synonymous_variant I1547I 4641C>T LICA-FR 2 55186301 55186301 single base substitution C T exon_variant LICA-FR 2 55186301 55186301 single base substitution C T missense_variant L1586F 4756C>T LICA-FR 2 55186301 55186301 single base substitution C T upstream_gene_variant LICA-FR 2 55195012 55195012 single base substitution T C intron_variant LICA-FR 2 55195012 55195012 single base substitution T C upstream_gene_variant LIHC-US 2 55040425 55040425 single base substitution C T exon_variant LIHC-US 2 55040425 55040425 single base substitution C T missense_variant P85L 254C>T LIHC-US 2 55185121 55185121 single base substitution G T exon_variant LIHC-US 2 55185121 55185121 single base substitution G T missense_variant V1561L 4681G>T LINC-JP 2 54946653 54946653 single base substitution G A upstream_gene_variant LINC-JP 2 54952272 54952272 single base substitution G T downstream_gene_variant LINC-JP 2 54952272 54952272 single base substitution G T intron_variant LINC-JP 2 54952272 54952272 single base substitution G T missense_variant R25L 74G>T LINC-JP 2 54957765 54957765 single base substitution C T intron_variant LINC-JP 2 54962864 54962864 single base substitution G T intron_variant LINC-JP 2 54978034 54978034 single base substitution C T intron_variant LINC-JP 2 55050754 55050754 deletion of <=200bp A - intron_variant LINC-JP 2 55054834 55054834 single base substitution C G missense_variant D219E 657C>G LINC-JP 2 55070608 55070608 single base substitution C G intron_variant LINC-JP 2 55082606 55082606 single base substitution G C intron_variant LINC-JP 2 55090858 55090858 single base substitution T C intron_variant LINC-JP 2 55092505 55092505 single base substitution T A intron_variant LINC-JP 2 55107644 55107644 single base substitution G A exon_variant LINC-JP 2 55107644 55107644 single base substitution G A intron_variant LINC-JP 2 55109410 55109410 single base substitution C T exon_variant LINC-JP 2 55109410 55109410 single base substitution C T intron_variant LINC-JP 2 55112914 55112914 single base substitution A G downstream_gene_variant LINC-JP 2 55112914 55112914 single base substitution A G intron_variant LINC-JP 2 55125991 55125991 single base substitution A G intron_variant LINC-JP 2 55132123 55132123 single base substitution G C intron_variant LINC-JP 2 55142471 55142471 single base substitution C T intron_variant LINC-JP 2 55143756 55143756 single base substitution T G intron_variant LINC-JP 2 55144235 55144235 single base substitution A G intron_variant LINC-JP 2 55146975 55146975 single base substitution A G intron_variant LINC-JP 2 55148816 55148816 single base substitution A G intron_variant LINC-JP 2 55155491 55155491 single base substitution A G synonymous_variant A1239A 3717A>G LINC-JP 2 55186513 55186513 single base substitution C T intron_variant LINC-JP 2 55186513 55186513 single base substitution C T upstream_gene_variant LINC-JP 2 55188319 55188319 single base substitution A T downstream_gene_variant LINC-JP 2 55188319 55188319 single base substitution A T intron_variant LINC-JP 2 55188319 55188319 single base substitution A T upstream_gene_variant LINC-JP 2 55191821 55191837 deletion of <=200bp AAGCTTTGTCATTCAGA - downstream_gene_variant LINC-JP 2 55191821 55191837 deletion of <=200bp AAGCTTTGTCATTCAGA - exon_variant LINC-JP 2 55191821 55191837 deletion of <=200bp AAGCTTTGTCATTCAGA - frameshift_variant PSFVIQM1815 LINC-JP 2 55191821 55191837 deletion of <=200bp AAGCTTTGTCATTCAGA - upstream_gene_variant LINC-JP 2 55194124 55194124 single base substitution T C intron_variant LINC-JP 2 55194124 55194124 single base substitution T C upstream_gene_variant LINC-JP 2 55197109 55197109 single base substitution G A downstream_gene_variant LINC-JP 2 55197109 55197109 single base substitution G A intron_variant LINC-JP 2 55197109 55197109 single base substitution G A upstream_gene_variant LIRI-JP 2 54945871 54945871 single base substitution A T upstream_gene_variant LIRI-JP 2 54955225 54955225 single base substitution A G downstream_gene_variant LIRI-JP 2 54955225 54955225 single base substitution A G intron_variant LIRI-JP 2 54959015 54959015 single base substitution G A intron_variant LIRI-JP 2 54959043 54959043 single base substitution C A intron_variant LIRI-JP 2 54965689 54965689 single base substitution A G intron_variant LIRI-JP 2 54971238 54971238 single base substitution A G intron_variant LIRI-JP 2 54971953 54971953 single base substitution G A intron_variant LIRI-JP 2 54975804 54975804 single base substitution C T intron_variant LIRI-JP 2 54977275 54977275 single base substitution A G intron_variant LIRI-JP 2 54980905 54980905 single base substitution C A intron_variant LIRI-JP 2 54981413 54981413 single base substitution C A intron_variant LIRI-JP 2 54982525 54982525 single base substitution C T intron_variant LIRI-JP 2 54982816 54982816 single base substitution G T intron_variant LIRI-JP 2 54986015 54986015 single base substitution G C intron_variant LIRI-JP 2 54986891 54986891 single base substitution A T intron_variant LIRI-JP 2 54987418 54987421 deletion of <=200bp AGAT - intron_variant LIRI-JP 2 54987585 54987585 single base substitution G C intron_variant LIRI-JP 2 54989930 54989930 single base substitution G T intron_variant LIRI-JP 2 54990253 54990253 single base substitution A G intron_variant LIRI-JP 2 54992699 54992699 single base substitution G A intron_variant LIRI-JP 2 54993562 54993562 single base substitution G A intron_variant LIRI-JP 2 54997272 54997272 single base substitution T C intron_variant LIRI-JP 2 54998449 54998449 single base substitution C T intron_variant LIRI-JP 2 55000144 55000144 single base substitution C T intron_variant LIRI-JP 2 55000211 55000211 single base substitution T C intron_variant LIRI-JP 2 55000754 55000754 single base substitution C A intron_variant LIRI-JP 2 55000831 55000831 single base substitution C G intron_variant LIRI-JP 2 55004159 55004159 single base substitution G T intron_variant LIRI-JP 2 55004160 55004160 single base substitution G T intron_variant LIRI-JP 2 55005866 55005866 single base substitution A G intron_variant LIRI-JP 2 55006273 55006273 single base substitution A G intron_variant LIRI-JP 2 55006318 55006318 single base substitution A C intron_variant LIRI-JP 2 55006936 55006936 single base substitution T C intron_variant LIRI-JP 2 55008430 55008430 single base substitution A G intron_variant LIRI-JP 2 55014659 55014659 single base substitution G A intron_variant LIRI-JP 2 55015049 55015049 single base substitution C T intron_variant LIRI-JP 2 55015509 55015509 single base substitution C T intron_variant LIRI-JP 2 55020470 55020470 single base substitution C T intron_variant LIRI-JP 2 55020490 55020490 single base substitution G T intron_variant LIRI-JP 2 55020650 55020650 single base substitution G T intron_variant LIRI-JP 2 55023188 55023188 single base substitution G T intron_variant LIRI-JP 2 55024023 55024023 deletion of <=200bp C - intron_variant LIRI-JP 2 55024218 55024218 single base substitution C T intron_variant LIRI-JP 2 55025053 55025053 single base substitution A G intron_variant LIRI-JP 2 55026709 55026709 single base substitution T A intron_variant LIRI-JP 2 55027357 55027357 single base substitution G C intron_variant LIRI-JP 2 55027678 55027678 single base substitution C T intron_variant LIRI-JP 2 55027906 55027906 single base substitution C A intron_variant LIRI-JP 2 55028529 55028529 single base substitution T C intron_variant LIRI-JP 2 55032053 55032053 single base substitution T G intron_variant LIRI-JP 2 55038899 55038899 single base substitution C G intron_variant LIRI-JP 2 55039284 55039284 single base substitution A G intron_variant LIRI-JP 2 55039699 55039699 single base substitution C T intron_variant LIRI-JP 2 55040414 55040414 single base substitution C G exon_variant LIRI-JP 2 55040414 55040414 single base substitution C G synonymous_variant V81V 243C>G LIRI-JP 2 55041183 55041183 single base substitution C T intron_variant LIRI-JP 2 55042014 55042014 single base substitution G C intron_variant LIRI-JP 2 55043071 55043071 single base substitution C A intron_variant LIRI-JP 2 55043413 55043413 single base substitution A G intron_variant LIRI-JP 2 55043778 55043778 single base substitution T C intron_variant LIRI-JP 2 55044374 55044374 single base substitution A G downstream_gene_variant LIRI-JP 2 55044374 55044374 single base substitution A G intron_variant LIRI-JP 2 55044983 55044983 single base substitution T G downstream_gene_variant LIRI-JP 2 55044983 55044983 single base substitution T G intron_variant LIRI-JP 2 55045169 55045169 single base substitution C T downstream_gene_variant LIRI-JP 2 55045169 55045169 single base substitution C T intron_variant LIRI-JP 2 55045267 55045267 single base substitution A G downstream_gene_variant LIRI-JP 2 55045267 55045267 single base substitution A G intron_variant LIRI-JP 2 55046589 55046589 single base substitution T C downstream_gene_variant LIRI-JP 2 55046589 55046589 single base substitution T C intron_variant LIRI-JP 2 55047066 55047066 single base substitution A G downstream_gene_variant LIRI-JP 2 55047066 55047066 single base substitution A G intron_variant LIRI-JP 2 55047430 55047430 single base substitution G A downstream_gene_variant LIRI-JP 2 55047430 55047430 single base substitution G A intron_variant LIRI-JP 2 55048173 55048173 deletion of <=200bp T - downstream_gene_variant LIRI-JP 2 55048173 55048173 deletion of <=200bp T - intron_variant LIRI-JP 2 55048713 55048713 single base substitution A G downstream_gene_variant LIRI-JP 2 55048713 55048713 single base substitution A G intron_variant LIRI-JP 2 55049228 55049228 single base substitution C A intron_variant LIRI-JP 2 55054361 55054361 single base substitution T C intron_variant LIRI-JP 2 55055530 55055530 single base substitution A G intron_variant LIRI-JP 2 55055574 55055574 single base substitution C G intron_variant LIRI-JP 2 55062564 55062564 single base substitution A G intron_variant LIRI-JP 2 55062963 55062963 single base substitution A T intron_variant LIRI-JP 2 55063866 55063866 single base substitution G A intron_variant LIRI-JP 2 55064484 55064484 single base substitution A G intron_variant LIRI-JP 2 55067832 55067832 single base substitution A C intron_variant LIRI-JP 2 55072912 55072912 single base substitution C T intron_variant LIRI-JP 2 55073967 55073967 single base substitution A G intron_variant LIRI-JP 2 55075069 55075069 single base substitution A G intron_variant LIRI-JP 2 55079243 55079243 single base substitution G T intron_variant LIRI-JP 2 55079243 55079243 single base substitution G T upstream_gene_variant LIRI-JP 2 55079279 55079279 single base substitution G A intron_variant LIRI-JP 2 55079279 55079279 single base substitution G A upstream_gene_variant LIRI-JP 2 55080552 55080552 single base substitution G A intron_variant LIRI-JP 2 55080552 55080552 single base substitution G A upstream_gene_variant LIRI-JP 2 55081734 55081734 single base substitution A G intron_variant LIRI-JP 2 55082208 55082208 single base substitution A C intron_variant LIRI-JP 2 55084060 55084060 single base substitution A G intron_variant LIRI-JP 2 55086403 55086403 single base substitution T C intron_variant LIRI-JP 2 55088545 55088545 single base substitution A C intron_variant LIRI-JP 2 55090325 55090325 single base substitution A T intron_variant LIRI-JP 2 55092888 55092888 single base substitution A G intron_variant LIRI-JP 2 55092982 55092982 single base substitution A T intron_variant LIRI-JP 2 55095145 55095145 single base substitution C T exon_variant LIRI-JP 2 55095145 55095145 single base substitution C T intron_variant LIRI-JP 2 55095862 55095862 single base substitution A G exon_variant LIRI-JP 2 55095862 55095862 single base substitution A G intron_variant LIRI-JP 2 55095866 55095866 single base substitution A G exon_variant LIRI-JP 2 55095866 55095866 single base substitution A G intron_variant LIRI-JP 2 55096071 55096071 single base substitution G A exon_variant LIRI-JP 2 55096071 55096071 single base substitution G A intron_variant LIRI-JP 2 55096254 55096254 single base substitution A G exon_variant LIRI-JP 2 55096254 55096254 single base substitution A G intron_variant LIRI-JP 2 55097228 55097228 single base substitution A G intron_variant LIRI-JP 2 55099420 55099420 single base substitution C A intron_variant LIRI-JP 2 55099821 55099821 single base substitution A G intron_variant LIRI-JP 2 55104202 55104202 single base substitution C T intron_variant LIRI-JP 2 55106989 55106989 single base substitution G A exon_variant LIRI-JP 2 55106989 55106989 single base substitution G A intron_variant LIRI-JP 2 55107589 55107589 single base substitution T A exon_variant LIRI-JP 2 55107589 55107589 single base substitution T A intron_variant LIRI-JP 2 55112120 55112120 single base substitution G A downstream_gene_variant LIRI-JP 2 55112120 55112120 single base substitution G A intron_variant LIRI-JP 2 55112750 55112750 single base substitution T C downstream_gene_variant LIRI-JP 2 55112750 55112750 single base substitution T C intron_variant LIRI-JP 2 55113593 55113593 single base substitution C G downstream_gene_variant LIRI-JP 2 55113593 55113593 single base substitution C G intron_variant LIRI-JP 2 55114373 55114373 single base substitution C T downstream_gene_variant LIRI-JP 2 55114373 55114373 single base substitution C T intron_variant LIRI-JP 2 55120628 55120628 single base substitution T C intron_variant LIRI-JP 2 55121930 55121930 single base substitution C T intron_variant LIRI-JP 2 55123751 55123751 single base substitution A T intron_variant LIRI-JP 2 55123758 55123758 single base substitution A C intron_variant LIRI-JP 2 55125403 55125403 single base substitution A G intron_variant LIRI-JP 2 55132242 55132242 single base substitution C T intron_variant LIRI-JP 2 55132299 55132299 insertion of <=200bp - T intron_variant LIRI-JP 2 55132313 55132313 single base substitution G A intron_variant LIRI-JP 2 55136314 55136314 single base substitution G A intron_variant LIRI-JP 2 55136692 55136692 single base substitution C G intron_variant LIRI-JP 2 55137214 55137214 single base substitution G A intron_variant LIRI-JP 2 55138691 55138691 single base substitution C G intron_variant LIRI-JP 2 55140068 55140068 single base substitution G C intron_variant LIRI-JP 2 55140244 55140244 single base substitution C A intron_variant LIRI-JP 2 55140873 55140873 single base substitution C G intron_variant LIRI-JP 2 55142358 55142358 single base substitution A G intron_variant LIRI-JP 2 55142777 55142777 insertion of <=200bp - A intron_variant LIRI-JP 2 55147776 55147776 single base substitution A G intron_variant LIRI-JP 2 55148426 55148426 single base substitution A G intron_variant LIRI-JP 2 55152391 55152391 single base substitution A G intron_variant LIRI-JP 2 55152563 55152563 single base substitution A G intron_variant LIRI-JP 2 55153112 55153112 single base substitution C G intron_variant LIRI-JP 2 55154414 55154414 single base substitution G A intron_variant LIRI-JP 2 55154863 55154863 single base substitution T C intron_variant LIRI-JP 2 55155109 55155109 single base substitution G T intron_variant LIRI-JP 2 55155142 55155142 single base substitution G A intron_variant LIRI-JP 2 55159239 55159239 single base substitution A G intron_variant LIRI-JP 2 55163406 55163406 single base substitution T C intron_variant LIRI-JP 2 55163605 55163605 insertion of <=200bp - T intron_variant LIRI-JP 2 55164432 55164432 single base substitution A T intron_variant LIRI-JP 2 55166317 55166317 single base substitution A G intron_variant LIRI-JP 2 55168244 55168244 single base substitution C T intron_variant LIRI-JP 2 55170673 55170673 single base substitution C G intron_variant LIRI-JP 2 55171930 55171930 single base substitution A G intron_variant LIRI-JP 2 55171930 55171930 single base substitution A G upstream_gene_variant LIRI-JP 2 55172812 55172812 single base substitution G A intron_variant LIRI-JP 2 55172812 55172812 single base substitution G A upstream_gene_variant LIRI-JP 2 55175276 55175284 deletion of <=200bp CCAAGAACT - intron_variant LIRI-JP 2 55175276 55175284 deletion of <=200bp CCAAGAACT - upstream_gene_variant LIRI-JP 2 55176497 55176497 single base substitution C G intron_variant LIRI-JP 2 55176497 55176497 single base substitution C G upstream_gene_variant LIRI-JP 2 55177238 55177238 single base substitution A T intron_variant LIRI-JP 2 55177238 55177238 single base substitution A T upstream_gene_variant LIRI-JP 2 55178819 55178819 single base substitution C T intron_variant LIRI-JP 2 55178819 55178819 single base substitution C T upstream_gene_variant LIRI-JP 2 55180763 55180763 single base substitution C G intron_variant LIRI-JP 2 55180763 55180763 single base substitution C G upstream_gene_variant LIRI-JP 2 55181223 55181223 single base substitution A T exon_variant LIRI-JP 2 55181223 55181223 single base substitution A T synonymous_variant A1472A 4416A>T LIRI-JP 2 55183217 55183220 deletion of <=200bp ATCC - intron_variant LIRI-JP 2 55183235 55183238 deletion of <=200bp TAGG - intron_variant LIRI-JP 2 55190207 55190207 single base substitution A C downstream_gene_variant LIRI-JP 2 55190207 55190207 single base substitution A C intron_variant LIRI-JP 2 55190207 55190207 single base substitution A C upstream_gene_variant LIRI-JP 2 55195356 55195356 single base substitution T C exon_variant LIRI-JP 2 55195356 55195356 single base substitution T C missense_variant I1897T 5690T>C LIRI-JP 2 55195356 55195356 single base substitution T C upstream_gene_variant LIRI-JP 2 55197557 55197557 single base substitution G A 3_prime_UTR_variant LIRI-JP 2 55197557 55197557 single base substitution G A downstream_gene_variant LIRI-JP 2 55197557 55197557 single base substitution G A exon_variant LIRI-JP 2 55197557 55197557 single base substitution G A upstream_gene_variant LIRI-JP 2 55199509 55199509 single base substitution T C downstream_gene_variant LIRI-JP 2 55200752 55200752 single base substitution C T downstream_gene_variant LIRI-JP 2 55202928 55202928 single base substitution T C downstream_gene_variant LIRI-JP 2 55204034 55204034 single base substitution C T downstream_gene_variant LUSC-KR 2 54946037 54946037 single base substitution C T upstream_gene_variant LUSC-KR 2 54948279 54948279 single base substitution A G upstream_gene_variant LUSC-KR 2 54952463 54952463 single base substitution A G downstream_gene_variant LUSC-KR 2 54952463 54952463 single base substitution A G intron_variant LUSC-KR 2 54956963 54956963 single base substitution G T intron_variant LUSC-KR 2 54959268 54959268 single base substitution A G intron_variant LUSC-KR 2 54960306 54960306 single base substitution C T intron_variant LUSC-KR 2 54962426 54962426 single base substitution A T intron_variant LUSC-KR 2 54964300 54964300 single base substitution A T intron_variant LUSC-KR 2 54966866 54966866 single base substitution G T intron_variant LUSC-KR 2 54968348 54968348 single base substitution C G intron_variant LUSC-KR 2 54968884 54968884 single base substitution G T intron_variant LUSC-KR 2 54975800 54975800 single base substitution G T intron_variant LUSC-KR 2 54976943 54976943 single base substitution G T intron_variant LUSC-KR 2 54979746 54979746 single base substitution T A intron_variant LUSC-KR 2 54984636 54984636 single base substitution G T intron_variant LUSC-KR 2 54984637 54984637 single base substitution G T intron_variant LUSC-KR 2 54985040 54985040 single base substitution A T intron_variant LUSC-KR 2 54986567 54986567 single base substitution G A intron_variant LUSC-KR 2 54991099 54991099 single base substitution G T intron_variant LUSC-KR 2 54991100 54991100 single base substitution G T intron_variant LUSC-KR 2 54992874 54992874 single base substitution G T intron_variant LUSC-KR 2 54994219 54994219 single base substitution G A intron_variant LUSC-KR 2 54994723 54994723 single base substitution G T intron_variant LUSC-KR 2 54997154 54997154 single base substitution A C intron_variant LUSC-KR 2 54997629 54997629 single base substitution T C intron_variant LUSC-KR 2 54999738 54999738 single base substitution C T intron_variant LUSC-KR 2 55001533 55001533 single base substitution G T intron_variant LUSC-KR 2 55001691 55001691 single base substitution C G intron_variant LUSC-KR 2 55004541 55004541 single base substitution C G intron_variant LUSC-KR 2 55005147 55005147 single base substitution A G intron_variant LUSC-KR 2 55006094 55006094 single base substitution A T intron_variant LUSC-KR 2 55006987 55006987 single base substitution A T intron_variant LUSC-KR 2 55007018 55007018 single base substitution A G intron_variant LUSC-KR 2 55009818 55009818 single base substitution G T intron_variant LUSC-KR 2 55010878 55010878 single base substitution C G intron_variant LUSC-KR 2 55011337 55011337 single base substitution C G intron_variant LUSC-KR 2 55012875 55012875 single base substitution T C intron_variant LUSC-KR 2 55013443 55013443 single base substitution T C intron_variant LUSC-KR 2 55013544 55013544 single base substitution G A intron_variant LUSC-KR 2 55017901 55017901 single base substitution C T intron_variant LUSC-KR 2 55019326 55019326 single base substitution G C intron_variant LUSC-KR 2 55019554 55019554 single base substitution G C intron_variant LUSC-KR 2 55019840 55019840 single base substitution C T intron_variant LUSC-KR 2 55020288 55020288 single base substitution C T intron_variant LUSC-KR 2 55024329 55024329 single base substitution G A intron_variant LUSC-KR 2 55027173 55027173 single base substitution G A intron_variant LUSC-KR 2 55027253 55027253 single base substitution A T intron_variant LUSC-KR 2 55028882 55028882 single base substitution C G intron_variant LUSC-KR 2 55029805 55029805 single base substitution G A intron_variant LUSC-KR 2 55033214 55033214 single base substitution G T intron_variant LUSC-KR 2 55037298 55037298 single base substitution G T intron_variant LUSC-KR 2 55039859 55039859 single base substitution T C intron_variant LUSC-KR 2 55040204 55040204 single base substitution C T intron_variant LUSC-KR 2 55040689 55040689 single base substitution G T intron_variant LUSC-KR 2 55040973 55040973 single base substitution C A intron_variant LUSC-KR 2 55043381 55043381 single base substitution G T intron_variant LUSC-KR 2 55044024 55044024 single base substitution T A downstream_gene_variant LUSC-KR 2 55044024 55044024 single base substitution T A splice_donor_variant LUSC-KR 2 55044697 55044697 single base substitution C T downstream_gene_variant LUSC-KR 2 55044697 55044697 single base substitution C T intron_variant LUSC-KR 2 55048615 55048615 single base substitution G T downstream_gene_variant LUSC-KR 2 55048615 55048615 single base substitution G T intron_variant LUSC-KR 2 55051019 55051019 single base substitution G C intron_variant LUSC-KR 2 55055563 55055563 single base substitution G A intron_variant LUSC-KR 2 55056073 55056073 single base substitution G T intron_variant LUSC-KR 2 55056074 55056074 single base substitution T G intron_variant LUSC-KR 2 55058615 55058615 single base substitution C A intron_variant LUSC-KR 2 55064809 55064809 single base substitution G T intron_variant LUSC-KR 2 55065080 55065080 single base substitution A T intron_variant LUSC-KR 2 55073616 55073616 single base substitution A G intron_variant LUSC-KR 2 55074074 55074074 single base substitution G T intron_variant LUSC-KR 2 55080834 55080834 single base substitution G T missense_variant W500L 1499G>T LUSC-KR 2 55080834 55080834 single base substitution G T upstream_gene_variant LUSC-KR 2 55084144 55084144 single base substitution G C intron_variant LUSC-KR 2 55086041 55086041 single base substitution G A intron_variant LUSC-KR 2 55086695 55086695 single base substitution G A exon_variant LUSC-KR 2 55086695 55086695 single base substitution G A missense_variant G561D 1682G>A LUSC-KR 2 55087110 55087110 single base substitution C A intron_variant LUSC-KR 2 55088473 55088473 single base substitution T C intron_variant LUSC-KR 2 55090619 55090619 single base substitution C G intron_variant LUSC-KR 2 55093137 55093137 single base substitution T C intron_variant LUSC-KR 2 55093782 55093782 single base substitution T C intron_variant LUSC-KR 2 55093923 55093923 single base substitution T C exon_variant LUSC-KR 2 55093923 55093923 single base substitution T C synonymous_variant P651P 1953T>C LUSC-KR 2 55095655 55095655 single base substitution G C exon_variant LUSC-KR 2 55095655 55095655 single base substitution G C intron_variant LUSC-KR 2 55098499 55098499 single base substitution G A intron_variant LUSC-KR 2 55101499 55101499 single base substitution G T intron_variant LUSC-KR 2 55106538 55106538 single base substitution G C intron_variant LUSC-KR 2 55108645 55108645 single base substitution A T exon_variant LUSC-KR 2 55108645 55108645 single base substitution A T intron_variant LUSC-KR 2 55108873 55108873 single base substitution G T exon_variant LUSC-KR 2 55108873 55108873 single base substitution G T intron_variant LUSC-KR 2 55109767 55109767 single base substitution G T exon_variant LUSC-KR 2 55109767 55109767 single base substitution G T intron_variant LUSC-KR 2 55110008 55110008 single base substitution A G exon_variant LUSC-KR 2 55110008 55110008 single base substitution A G intron_variant LUSC-KR 2 55112352 55112352 single base substitution C A downstream_gene_variant LUSC-KR 2 55112352 55112352 single base substitution C A intron_variant LUSC-KR 2 55112508 55112508 single base substitution C A downstream_gene_variant LUSC-KR 2 55112508 55112508 single base substitution C A intron_variant LUSC-KR 2 55115321 55115321 single base substitution G T intron_variant LUSC-KR 2 55116842 55116842 single base substitution T C intron_variant LUSC-KR 2 55119381 55119381 single base substitution C T intron_variant LUSC-KR 2 55135365 55135365 single base substitution G T intron_variant LUSC-KR 2 55136278 55136278 single base substitution A T intron_variant LUSC-KR 2 55137953 55137953 single base substitution T C intron_variant LUSC-KR 2 55140807 55140807 single base substitution C T intron_variant LUSC-KR 2 55142555 55142555 single base substitution G T intron_variant LUSC-KR 2 55143479 55143479 single base substitution C T intron_variant LUSC-KR 2 55144103 55144103 single base substitution C G intron_variant LUSC-KR 2 55146872 55146872 single base substitution A T intron_variant LUSC-KR 2 55148727 55148727 single base substitution T A intron_variant LUSC-KR 2 55151167 55151167 single base substitution G A intron_variant LUSC-KR 2 55154330 55154330 single base substitution G T intron_variant LUSC-KR 2 55154605 55154605 single base substitution G A intron_variant LUSC-KR 2 55155425 55155425 single base substitution T G intron_variant LUSC-KR 2 55155548 55155548 single base substitution C A synonymous_variant G1258G 3774C>A LUSC-KR 2 55158865 55158865 single base substitution G A intron_variant LUSC-KR 2 55162152 55162152 single base substitution T C intron_variant LUSC-KR 2 55162190 55162190 single base substitution G T intron_variant LUSC-KR 2 55165813 55165813 single base substitution C A intron_variant LUSC-KR 2 55167652 55167652 single base substitution G T intron_variant LUSC-KR 2 55169054 55169054 single base substitution G A intron_variant LUSC-KR 2 55171997 55171997 single base substitution C A intron_variant LUSC-KR 2 55171997 55171997 single base substitution C A upstream_gene_variant LUSC-KR 2 55175740 55175740 single base substitution C T intron_variant LUSC-KR 2 55175740 55175740 single base substitution C T upstream_gene_variant LUSC-KR 2 55182959 55182959 single base substitution C T intron_variant LUSC-KR 2 55183256 55183256 single base substitution C G intron_variant LUSC-KR 2 55185620 55185620 single base substitution C T intron_variant LUSC-KR 2 55192543 55192543 single base substitution C G intron_variant LUSC-KR 2 55192543 55192543 single base substitution C G upstream_gene_variant LUSC-KR 2 55196920 55196920 single base substitution G A downstream_gene_variant LUSC-KR 2 55196920 55196920 single base substitution G A intron_variant LUSC-KR 2 55196920 55196920 single base substitution G A upstream_gene_variant LUSC-KR 2 55197882 55197882 single base substitution A T 3_prime_UTR_variant LUSC-KR 2 55197882 55197882 single base substitution A T downstream_gene_variant LUSC-KR 2 55197882 55197882 single base substitution A T exon_variant LUSC-KR 2 55199899 55199899 single base substitution C G downstream_gene_variant LUSC-KR 2 55200329 55200329 single base substitution T C downstream_gene_variant LUSC-KR 2 55200800 55200800 single base substitution T G downstream_gene_variant LUSC-KR 2 55204094 55204094 single base substitution T C downstream_gene_variant MALY-DE 2 54952575 54952575 single base substitution T A downstream_gene_variant MALY-DE 2 54952575 54952575 single base substitution T A intron_variant MALY-DE 2 54953657 54953657 single base substitution A G downstream_gene_variant MALY-DE 2 54953657 54953657 single base substitution A G intron_variant MALY-DE 2 54955004 54955004 single base substitution A T downstream_gene_variant MALY-DE 2 54955004 54955004 single base substitution A T intron_variant MALY-DE 2 54955790 54955790 single base substitution G T downstream_gene_variant MALY-DE 2 54955790 54955790 single base substitution G T intron_variant MALY-DE 2 54965935 54965935 deletion of <=200bp G - intron_variant MALY-DE 2 54966464 54966464 single base substitution A C intron_variant MALY-DE 2 54968101 54968101 single base substitution T C intron_variant MALY-DE 2 54983189 54983189 single base substitution A G intron_variant MALY-DE 2 54987446 54987446 single base substitution A C intron_variant MALY-DE 2 54989201 54989201 single base substitution A T intron_variant MALY-DE 2 54992903 54992903 single base substitution C A intron_variant MALY-DE 2 54994110 54994110 single base substitution T C intron_variant MALY-DE 2 54994401 54994401 single base substitution C A intron_variant MALY-DE 2 54994682 54994682 single base substitution A C intron_variant MALY-DE 2 54995717 54995717 single base substitution G A intron_variant MALY-DE 2 54997305 54997305 single base substitution T C intron_variant MALY-DE 2 54997877 54997880 deletion of <=200bp TTCC - intron_variant MALY-DE 2 55002304 55002304 single base substitution T A intron_variant MALY-DE 2 55003305 55003305 single base substitution G A intron_variant MALY-DE 2 55006074 55006074 single base substitution T C intron_variant MALY-DE 2 55008095 55008095 single base substitution T G intron_variant MALY-DE 2 55010118 55010118 single base substitution C T intron_variant MALY-DE 2 55011637 55011637 single base substitution T C intron_variant MALY-DE 2 55012298 55012298 single base substitution A C intron_variant MALY-DE 2 55015609 55015609 single base substitution G A intron_variant MALY-DE 2 55015771 55015771 single base substitution T C intron_variant MALY-DE 2 55015780 55015780 single base substitution A C intron_variant MALY-DE 2 55015799 55015799 single base substitution C A intron_variant MALY-DE 2 55015996 55015996 single base substitution G A intron_variant MALY-DE 2 55016042 55016042 single base substitution A T intron_variant MALY-DE 2 55016112 55016112 single base substitution T C intron_variant MALY-DE 2 55016329 55016329 single base substitution A G intron_variant MALY-DE 2 55024853 55024853 single base substitution A C intron_variant MALY-DE 2 55026397 55026397 single base substitution A C intron_variant MALY-DE 2 55028281 55028281 single base substitution C T intron_variant MALY-DE 2 55033118 55033118 single base substitution A G intron_variant MALY-DE 2 55034005 55034005 single base substitution A C intron_variant MALY-DE 2 55035505 55035505 deletion of <=200bp T - intron_variant MALY-DE 2 55037269 55037269 single base substitution C T intron_variant MALY-DE 2 55038226 55038226 single base substitution T G intron_variant MALY-DE 2 55038525 55038525 single base substitution G A intron_variant MALY-DE 2 55040211 55040211 single base substitution A G intron_variant MALY-DE 2 55045627 55045627 single base substitution C T downstream_gene_variant MALY-DE 2 55045627 55045627 single base substitution C T intron_variant MALY-DE 2 55047018 55047018 single base substitution G A downstream_gene_variant MALY-DE 2 55047018 55047018 single base substitution G A intron_variant MALY-DE 2 55051753 55051753 single base substitution T A intron_variant MALY-DE 2 55053750 55053750 single base substitution A C intron_variant MALY-DE 2 55053935 55053935 single base substitution A C intron_variant MALY-DE 2 55056122 55056122 single base substitution T G intron_variant MALY-DE 2 55066679 55066679 single base substitution T C intron_variant MALY-DE 2 55072036 55072036 single base substitution A C intron_variant MALY-DE 2 55077468 55077468 single base substitution G T intron_variant MALY-DE 2 55077468 55077468 single base substitution G T upstream_gene_variant MALY-DE 2 55083644 55083644 single base substitution C T intron_variant MALY-DE 2 55087888 55087888 single base substitution A G intron_variant MALY-DE 2 55090558 55090575 deletion of <=200bp TGAGGTGGGAGGATTGCT - intron_variant MALY-DE 2 55094172 55094172 single base substitution T A exon_variant MALY-DE 2 55094172 55094172 single base substitution T A intron_variant MALY-DE 2 55094288 55094288 single base substitution G A exon_variant MALY-DE 2 55094288 55094288 single base substitution G A intron_variant MALY-DE 2 55120435 55120435 single base substitution A G intron_variant MALY-DE 2 55120992 55120992 insertion of <=200bp - T intron_variant MALY-DE 2 55124404 55124404 single base substitution T A intron_variant MALY-DE 2 55132308 55132308 single base substitution G A intron_variant MALY-DE 2 55134626 55134627 deletion of <=200bp AG - intron_variant MALY-DE 2 55149842 55149842 single base substitution G A intron_variant MALY-DE 2 55164205 55164205 single base substitution T A intron_variant MALY-DE 2 55164822 55164822 single base substitution T C intron_variant MALY-DE 2 55167814 55167814 single base substitution A C intron_variant MALY-DE 2 55169204 55169204 single base substitution T A intron_variant MALY-DE 2 55175325 55175325 insertion of <=200bp - A intron_variant MALY-DE 2 55175325 55175325 insertion of <=200bp - A upstream_gene_variant MALY-DE 2 55182662 55182662 single base substitution T C intron_variant MALY-DE 2 55183065 55183065 single base substitution G A intron_variant MALY-DE 2 55183156 55183157 deletion of <=200bp GT - intron_variant MALY-DE 2 55185437 55185437 single base substitution T G intron_variant MALY-DE 2 55196001 55196001 single base substitution G A downstream_gene_variant MALY-DE 2 55196001 55196001 single base substitution G A intron_variant MALY-DE 2 55196001 55196001 single base substitution G A upstream_gene_variant MALY-DE 2 55196271 55196271 single base substitution T A downstream_gene_variant MALY-DE 2 55196271 55196271 single base substitution T A intron_variant MALY-DE 2 55196271 55196271 single base substitution T A upstream_gene_variant MALY-DE 2 55200039 55200042 deletion of <=200bp AGAT - downstream_gene_variant MALY-DE 2 55200844 55200844 single base substitution C T downstream_gene_variant MELA-AU 2 54945780 54945780 single base substitution G A upstream_gene_variant MELA-AU 2 54946026 54946026 single base substitution G A upstream_gene_variant MELA-AU 2 54946559 54946559 single base substitution C T upstream_gene_variant MELA-AU 2 54946757 54946757 single base substitution C A upstream_gene_variant MELA-AU 2 54946788 54946788 single base substitution A C upstream_gene_variant MELA-AU 2 54946985 54946985 single base substitution T A upstream_gene_variant MELA-AU 2 54947199 54947199 single base substitution C T upstream_gene_variant MELA-AU 2 54947213 54947213 single base substitution T C upstream_gene_variant MELA-AU 2 54947456 54947456 single base substitution G T upstream_gene_variant MELA-AU 2 54947481 54947481 single base substitution G A upstream_gene_variant MELA-AU 2 54947640 54947640 single base substitution T C upstream_gene_variant MELA-AU 2 54948016 54948016 single base substitution C T upstream_gene_variant MELA-AU 2 54949239 54949239 single base substitution C T upstream_gene_variant MELA-AU 2 54949257 54949257 single base substitution G A upstream_gene_variant MELA-AU 2 54949312 54949312 single base substitution G A upstream_gene_variant MELA-AU 2 54949809 54949809 single base substitution G A upstream_gene_variant MELA-AU 2 54950539 54950539 single base substitution G A upstream_gene_variant MELA-AU 2 54950544 54950544 single base substitution C T upstream_gene_variant MELA-AU 2 54950577 54950577 single base substitution G C upstream_gene_variant MELA-AU 2 54950624 54950624 single base substitution G A upstream_gene_variant MELA-AU 2 54950649 54950650 multiple base substitution (>=2bp and <=200bp) GG AA exon_variant MELA-AU 2 54950649 54950650 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 54951077 54951077 single base substitution G A intron_variant MELA-AU 2 54951077 54951077 single base substitution G A upstream_gene_variant MELA-AU 2 54951097 54951097 single base substitution C G intron_variant MELA-AU 2 54951097 54951097 single base substitution C G upstream_gene_variant MELA-AU 2 54952247 54952247 single base substitution T C downstream_gene_variant MELA-AU 2 54952247 54952247 single base substitution T C intron_variant MELA-AU 2 54952247 54952247 single base substitution T C missense_variant Y17H 49T>C MELA-AU 2 54953400 54953400 single base substitution C T downstream_gene_variant MELA-AU 2 54953400 54953400 single base substitution C T intron_variant MELA-AU 2 54953993 54953993 single base substitution C T downstream_gene_variant MELA-AU 2 54953993 54953993 single base substitution C T intron_variant MELA-AU 2 54954033 54954033 single base substitution C T downstream_gene_variant MELA-AU 2 54954033 54954033 single base substitution C T intron_variant MELA-AU 2 54954191 54954191 single base substitution A T downstream_gene_variant MELA-AU 2 54954191 54954191 single base substitution A T intron_variant MELA-AU 2 54954684 54954684 single base substitution C T downstream_gene_variant MELA-AU 2 54954684 54954684 single base substitution C T intron_variant MELA-AU 2 54954750 54954750 single base substitution G A downstream_gene_variant MELA-AU 2 54954750 54954750 single base substitution G A intron_variant MELA-AU 2 54954802 54954802 single base substitution C T downstream_gene_variant MELA-AU 2 54954802 54954802 single base substitution C T intron_variant MELA-AU 2 54955147 54955147 single base substitution T C downstream_gene_variant MELA-AU 2 54955147 54955147 single base substitution T C intron_variant MELA-AU 2 54956274 54956274 single base substitution C T downstream_gene_variant MELA-AU 2 54956274 54956274 single base substitution C T intron_variant MELA-AU 2 54956294 54956294 single base substitution G A downstream_gene_variant MELA-AU 2 54956294 54956294 single base substitution G A intron_variant MELA-AU 2 54956668 54956668 single base substitution A G downstream_gene_variant MELA-AU 2 54956668 54956668 single base substitution A G intron_variant MELA-AU 2 54956901 54956901 single base substitution T G intron_variant MELA-AU 2 54957200 54957200 single base substitution G A intron_variant MELA-AU 2 54957457 54957457 single base substitution G A intron_variant MELA-AU 2 54957518 54957518 single base substitution G A intron_variant MELA-AU 2 54957625 54957625 single base substitution G A intron_variant MELA-AU 2 54957669 54957695 deletion of <=200bp ACACTGAGAAATAGGTCTTCTCATTTT - intron_variant MELA-AU 2 54957885 54957887 multiple base substitution (>=2bp and <=200bp) TTG CCT intron_variant MELA-AU 2 54958085 54958085 single base substitution G A intron_variant MELA-AU 2 54958462 54958462 single base substitution C T intron_variant MELA-AU 2 54958660 54958660 single base substitution C T intron_variant MELA-AU 2 54959084 54959084 single base substitution C A intron_variant MELA-AU 2 54959111 54959111 single base substitution C T intron_variant MELA-AU 2 54959231 54959231 single base substitution T C intron_variant MELA-AU 2 54959247 54959247 single base substitution G A intron_variant MELA-AU 2 54959744 54959744 single base substitution G A intron_variant MELA-AU 2 54960009 54960009 single base substitution C T intron_variant MELA-AU 2 54960167 54960167 single base substitution T A intron_variant MELA-AU 2 54960309 54960309 single base substitution G A intron_variant MELA-AU 2 54960451 54960451 single base substitution C T intron_variant MELA-AU 2 54960646 54960646 single base substitution C T intron_variant MELA-AU 2 54960674 54960674 single base substitution C T intron_variant MELA-AU 2 54960688 54960688 single base substitution C T intron_variant MELA-AU 2 54960754 54960754 single base substitution C T intron_variant MELA-AU 2 54961236 54961236 single base substitution G A intron_variant MELA-AU 2 54961309 54961310 multiple base substitution (>=2bp and <=200bp) CT TC intron_variant MELA-AU 2 54961402 54961402 single base substitution G A intron_variant MELA-AU 2 54961513 54961513 single base substitution T C intron_variant MELA-AU 2 54962282 54962282 single base substitution C T intron_variant MELA-AU 2 54962321 54962321 single base substitution C T intron_variant MELA-AU 2 54962378 54962378 single base substitution C T intron_variant MELA-AU 2 54962708 54962708 single base substitution C T intron_variant MELA-AU 2 54963050 54963050 single base substitution C T intron_variant MELA-AU 2 54963108 54963108 single base substitution G A intron_variant MELA-AU 2 54963224 54963224 single base substitution C T intron_variant MELA-AU 2 54963577 54963577 single base substitution C G intron_variant MELA-AU 2 54963598 54963598 single base substitution C T intron_variant MELA-AU 2 54963797 54963797 single base substitution C T intron_variant MELA-AU 2 54963881 54963881 single base substitution C T intron_variant MELA-AU 2 54963916 54963916 single base substitution C T intron_variant MELA-AU 2 54964131 54964131 single base substitution G C intron_variant MELA-AU 2 54964165 54964165 single base substitution A G intron_variant MELA-AU 2 54964435 54964435 single base substitution T A intron_variant MELA-AU 2 54964635 54964635 single base substitution C T intron_variant MELA-AU 2 54964723 54964723 single base substitution C T intron_variant MELA-AU 2 54965006 54965006 single base substitution C T intron_variant MELA-AU 2 54965158 54965158 single base substitution C T intron_variant MELA-AU 2 54965597 54965597 single base substitution C T intron_variant MELA-AU 2 54965644 54965644 single base substitution C T intron_variant MELA-AU 2 54965689 54965689 single base substitution A G intron_variant MELA-AU 2 54965749 54965749 single base substitution A G intron_variant MELA-AU 2 54965916 54965916 single base substitution T C intron_variant MELA-AU 2 54966081 54966081 single base substitution C T intron_variant MELA-AU 2 54966333 54966333 single base substitution T A intron_variant MELA-AU 2 54966962 54966962 single base substitution G A intron_variant MELA-AU 2 54967211 54967211 single base substitution G A intron_variant MELA-AU 2 54967309 54967309 single base substitution C T intron_variant MELA-AU 2 54967684 54967684 single base substitution C T intron_variant MELA-AU 2 54967725 54967725 single base substitution G A intron_variant MELA-AU 2 54968426 54968426 single base substitution C T intron_variant MELA-AU 2 54969023 54969023 single base substitution G A intron_variant MELA-AU 2 54969106 54969106 single base substitution A G intron_variant MELA-AU 2 54969329 54969329 single base substitution C T intron_variant MELA-AU 2 54969407 54969407 single base substitution C T intron_variant MELA-AU 2 54969415 54969415 single base substitution C T intron_variant MELA-AU 2 54969597 54969597 single base substitution G A intron_variant MELA-AU 2 54969735 54969735 single base substitution T A intron_variant MELA-AU 2 54970104 54970104 single base substitution C T intron_variant MELA-AU 2 54970252 54970252 single base substitution A C intron_variant MELA-AU 2 54970284 54970284 single base substitution C T intron_variant MELA-AU 2 54970473 54970473 single base substitution C T intron_variant MELA-AU 2 54970484 54970484 single base substitution C T intron_variant MELA-AU 2 54970517 54970517 single base substitution T G intron_variant MELA-AU 2 54970678 54970678 single base substitution G A intron_variant MELA-AU 2 54971556 54971556 single base substitution C T intron_variant MELA-AU 2 54971724 54971724 single base substitution G A intron_variant MELA-AU 2 54971735 54971735 single base substitution A G intron_variant MELA-AU 2 54971765 54971765 single base substitution G A intron_variant MELA-AU 2 54971890 54971890 single base substitution C T intron_variant MELA-AU 2 54972851 54972851 single base substitution G A intron_variant MELA-AU 2 54972958 54972958 single base substitution C T intron_variant MELA-AU 2 54973120 54973120 single base substitution T C intron_variant MELA-AU 2 54973159 54973159 single base substitution C T intron_variant MELA-AU 2 54973188 54973188 single base substitution C T intron_variant MELA-AU 2 54973703 54973703 single base substitution C T intron_variant MELA-AU 2 54973930 54973930 single base substitution C T intron_variant MELA-AU 2 54974179 54974179 single base substitution C T intron_variant MELA-AU 2 54974372 54974372 single base substitution A T intron_variant MELA-AU 2 54975386 54975386 single base substitution G A intron_variant MELA-AU 2 54975391 54975391 single base substitution G A intron_variant MELA-AU 2 54975414 54975414 single base substitution G A intron_variant MELA-AU 2 54975787 54975787 single base substitution C T intron_variant MELA-AU 2 54975788 54975788 single base substitution C T intron_variant MELA-AU 2 54975993 54975994 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 54976110 54976110 single base substitution C T intron_variant MELA-AU 2 54976111 54976111 single base substitution C T intron_variant MELA-AU 2 54976260 54976260 single base substitution G A intron_variant MELA-AU 2 54976529 54976529 single base substitution C T intron_variant MELA-AU 2 54976700 54976700 single base substitution C T intron_variant MELA-AU 2 54976760 54976760 single base substitution A G intron_variant MELA-AU 2 54976853 54976853 single base substitution G A intron_variant MELA-AU 2 54976959 54976959 single base substitution T A intron_variant MELA-AU 2 54977090 54977090 single base substitution G A intron_variant MELA-AU 2 54977260 54977260 single base substitution C T intron_variant MELA-AU 2 54977428 54977428 single base substitution C T intron_variant MELA-AU 2 54977552 54977552 single base substitution G A intron_variant MELA-AU 2 54977745 54977745 single base substitution C T intron_variant MELA-AU 2 54978075 54978075 single base substitution G A intron_variant MELA-AU 2 54978258 54978258 single base substitution G T intron_variant MELA-AU 2 54978302 54978302 single base substitution C T intron_variant MELA-AU 2 54978718 54978718 single base substitution C T intron_variant MELA-AU 2 54978733 54978733 single base substitution C T intron_variant MELA-AU 2 54978789 54978789 single base substitution T A intron_variant MELA-AU 2 54978971 54978971 single base substitution G A intron_variant MELA-AU 2 54979897 54979897 single base substitution C T intron_variant MELA-AU 2 54979996 54979996 single base substitution G A intron_variant MELA-AU 2 54980084 54980084 single base substitution C T intron_variant MELA-AU 2 54980451 54980451 single base substitution G A intron_variant MELA-AU 2 54980610 54980610 single base substitution G A intron_variant MELA-AU 2 54981074 54981074 single base substitution C T intron_variant MELA-AU 2 54981127 54981127 single base substitution C T intron_variant MELA-AU 2 54981339 54981339 single base substitution C T intron_variant MELA-AU 2 54981566 54981566 single base substitution G A intron_variant MELA-AU 2 54981805 54981805 single base substitution T A intron_variant MELA-AU 2 54982084 54982084 single base substitution C T intron_variant MELA-AU 2 54982662 54982662 single base substitution G A intron_variant MELA-AU 2 54982886 54982886 single base substitution C T intron_variant MELA-AU 2 54983071 54983071 single base substitution C T intron_variant MELA-AU 2 54983072 54983072 single base substitution C T intron_variant MELA-AU 2 54983258 54983258 single base substitution G A intron_variant MELA-AU 2 54983334 54983334 single base substitution G A intron_variant MELA-AU 2 54983746 54983746 single base substitution C T intron_variant MELA-AU 2 54984070 54984070 single base substitution C T intron_variant MELA-AU 2 54984091 54984091 single base substitution C T intron_variant MELA-AU 2 54984129 54984129 single base substitution C T intron_variant MELA-AU 2 54984283 54984283 single base substitution C T intron_variant MELA-AU 2 54984787 54984787 single base substitution G A intron_variant MELA-AU 2 54984887 54984887 single base substitution T G intron_variant MELA-AU 2 54985553 54985553 single base substitution C T intron_variant MELA-AU 2 54985650 54985650 single base substitution G A intron_variant MELA-AU 2 54985676 54985676 single base substitution C T intron_variant MELA-AU 2 54985760 54985760 insertion of <=200bp - T intron_variant MELA-AU 2 54985792 54985792 single base substitution C T intron_variant MELA-AU 2 54985968 54985968 single base substitution C T intron_variant MELA-AU 2 54987278 54987278 single base substitution C T intron_variant MELA-AU 2 54987279 54987279 single base substitution G A intron_variant MELA-AU 2 54987674 54987674 single base substitution C T intron_variant MELA-AU 2 54988293 54988293 single base substitution T A intron_variant MELA-AU 2 54988302 54988302 single base substitution C T intron_variant MELA-AU 2 54988914 54988914 single base substitution C T intron_variant MELA-AU 2 54988975 54988975 single base substitution A G intron_variant MELA-AU 2 54989832 54989832 single base substitution C T intron_variant MELA-AU 2 54990187 54990187 single base substitution C T intron_variant MELA-AU 2 54991050 54991050 single base substitution C T intron_variant MELA-AU 2 54991162 54991162 single base substitution C T intron_variant MELA-AU 2 54991297 54991297 single base substitution C T intron_variant MELA-AU 2 54991544 54991544 single base substitution C T intron_variant MELA-AU 2 54991576 54991576 single base substitution C T intron_variant MELA-AU 2 54991646 54991646 single base substitution A C intron_variant MELA-AU 2 54992832 54992832 single base substitution C T intron_variant MELA-AU 2 54993177 54993177 single base substitution C T intron_variant MELA-AU 2 54993278 54993278 single base substitution C T intron_variant MELA-AU 2 54993412 54993412 single base substitution C T intron_variant MELA-AU 2 54993431 54993431 single base substitution C T intron_variant MELA-AU 2 54993575 54993575 single base substitution T A intron_variant MELA-AU 2 54993683 54993683 single base substitution T G intron_variant MELA-AU 2 54994405 54994405 single base substitution G A intron_variant MELA-AU 2 54994648 54994648 single base substitution A C intron_variant MELA-AU 2 54994765 54994765 single base substitution G A intron_variant MELA-AU 2 54994869 54994869 single base substitution C T intron_variant MELA-AU 2 54995368 54995368 single base substitution T A intron_variant MELA-AU 2 54995420 54995420 single base substitution C T intron_variant MELA-AU 2 54995590 54995590 single base substitution T C intron_variant MELA-AU 2 54995653 54995653 single base substitution C T intron_variant MELA-AU 2 54996214 54996214 single base substitution C T intron_variant MELA-AU 2 54996285 54996285 single base substitution G A intron_variant MELA-AU 2 54996798 54996798 single base substitution C T intron_variant MELA-AU 2 54997093 54997093 single base substitution C T intron_variant MELA-AU 2 54997197 54997197 single base substitution A T intron_variant MELA-AU 2 54997203 54997203 single base substitution T A intron_variant MELA-AU 2 54997205 54997205 single base substitution C T intron_variant MELA-AU 2 54997227 54997227 single base substitution G A intron_variant MELA-AU 2 54997417 54997417 single base substitution A G intron_variant MELA-AU 2 54997450 54997450 single base substitution C T intron_variant MELA-AU 2 54997844 54997844 single base substitution C T intron_variant MELA-AU 2 54997913 54997913 single base substitution C T intron_variant MELA-AU 2 54998970 54998970 single base substitution C T intron_variant MELA-AU 2 54999296 54999296 single base substitution C T intron_variant MELA-AU 2 54999482 54999482 single base substitution G A intron_variant MELA-AU 2 54999616 54999616 single base substitution C T intron_variant MELA-AU 2 54999678 54999678 single base substitution C A intron_variant MELA-AU 2 54999763 54999763 single base substitution C T intron_variant MELA-AU 2 55000122 55000122 single base substitution G A intron_variant MELA-AU 2 55000284 55000284 single base substitution C T intron_variant MELA-AU 2 55000411 55000411 single base substitution C A intron_variant MELA-AU 2 55000475 55000475 single base substitution C T intron_variant MELA-AU 2 55000686 55000686 single base substitution C T intron_variant MELA-AU 2 55000953 55000953 single base substitution G A intron_variant MELA-AU 2 55000982 55000982 single base substitution G A intron_variant MELA-AU 2 55001404 55001404 single base substitution C T intron_variant MELA-AU 2 55001462 55001462 single base substitution G A intron_variant MELA-AU 2 55001566 55001566 single base substitution C T intron_variant MELA-AU 2 55001573 55001573 single base substitution G A intron_variant MELA-AU 2 55001592 55001592 single base substitution C T intron_variant MELA-AU 2 55001813 55001813 single base substitution C T intron_variant MELA-AU 2 55001875 55001875 single base substitution C T intron_variant MELA-AU 2 55002118 55002118 single base substitution C T intron_variant MELA-AU 2 55002178 55002178 single base substitution G A intron_variant MELA-AU 2 55002565 55002566 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 55002606 55002606 single base substitution T G intron_variant MELA-AU 2 55002630 55002630 single base substitution G A intron_variant MELA-AU 2 55003241 55003241 single base substitution G A intron_variant MELA-AU 2 55003559 55003559 single base substitution C T intron_variant MELA-AU 2 55003699 55003699 single base substitution C T intron_variant MELA-AU 2 55003701 55003701 single base substitution T A intron_variant MELA-AU 2 55003754 55003754 single base substitution G A intron_variant MELA-AU 2 55003759 55003759 single base substitution C T intron_variant MELA-AU 2 55003886 55003886 single base substitution C T intron_variant MELA-AU 2 55003950 55003950 single base substitution C T intron_variant MELA-AU 2 55003985 55003985 single base substitution G A intron_variant MELA-AU 2 55004475 55004475 single base substitution C T intron_variant MELA-AU 2 55004587 55004587 single base substitution C T intron_variant MELA-AU 2 55005034 55005034 single base substitution G A intron_variant MELA-AU 2 55005266 55005267 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 55005288 55005288 single base substitution C T intron_variant MELA-AU 2 55005436 55005436 single base substitution T A intron_variant MELA-AU 2 55005448 55005448 single base substitution C T intron_variant MELA-AU 2 55005816 55005816 single base substitution G A intron_variant MELA-AU 2 55005821 55005821 single base substitution C T intron_variant MELA-AU 2 55005839 55005839 single base substitution C T intron_variant MELA-AU 2 55005911 55005911 single base substitution C T intron_variant MELA-AU 2 55006163 55006163 single base substitution G A intron_variant MELA-AU 2 55006191 55006191 single base substitution C T intron_variant MELA-AU 2 55006217 55006217 single base substitution C T intron_variant MELA-AU 2 55006253 55006253 single base substitution G A intron_variant MELA-AU 2 55006386 55006386 single base substitution G A intron_variant MELA-AU 2 55006493 55006493 single base substitution T G intron_variant MELA-AU 2 55006577 55006577 single base substitution G A intron_variant MELA-AU 2 55006578 55006578 single base substitution G A intron_variant MELA-AU 2 55006689 55006689 single base substitution A G intron_variant MELA-AU 2 55006709 55006709 single base substitution G A intron_variant MELA-AU 2 55006858 55006858 single base substitution G A intron_variant MELA-AU 2 55007047 55007047 single base substitution G A intron_variant MELA-AU 2 55007058 55007058 single base substitution G A intron_variant MELA-AU 2 55007346 55007346 single base substitution C T intron_variant MELA-AU 2 55008055 55008055 single base substitution C T intron_variant MELA-AU 2 55008252 55008252 single base substitution G A intron_variant MELA-AU 2 55008469 55008469 single base substitution C T intron_variant MELA-AU 2 55008565 55008565 single base substitution G A intron_variant MELA-AU 2 55008616 55008616 single base substitution T C intron_variant MELA-AU 2 55008896 55008896 single base substitution C T intron_variant MELA-AU 2 55009300 55009300 single base substitution C T intron_variant MELA-AU 2 55009673 55009673 single base substitution A C intron_variant MELA-AU 2 55009733 55009733 single base substitution G A intron_variant MELA-AU 2 55010643 55010643 single base substitution A G intron_variant MELA-AU 2 55010645 55010645 single base substitution G A intron_variant MELA-AU 2 55011017 55011017 single base substitution C T intron_variant MELA-AU 2 55011072 55011072 single base substitution C T intron_variant MELA-AU 2 55011694 55011694 single base substitution G A intron_variant MELA-AU 2 55011857 55011857 single base substitution C T intron_variant MELA-AU 2 55012770 55012770 single base substitution G A intron_variant MELA-AU 2 55013765 55013765 single base substitution C T intron_variant MELA-AU 2 55013820 55013820 single base substitution C T intron_variant MELA-AU 2 55013833 55013833 single base substitution G A intron_variant MELA-AU 2 55013944 55013944 single base substitution C T intron_variant MELA-AU 2 55014367 55014367 single base substitution C T intron_variant MELA-AU 2 55014864 55014864 single base substitution C T intron_variant MELA-AU 2 55014882 55014882 single base substitution G A intron_variant MELA-AU 2 55015055 55015055 single base substitution C T intron_variant MELA-AU 2 55015205 55015205 single base substitution C T intron_variant MELA-AU 2 55015206 55015206 single base substitution C T intron_variant MELA-AU 2 55015271 55015271 single base substitution C G intron_variant MELA-AU 2 55015473 55015473 single base substitution C T intron_variant MELA-AU 2 55015523 55015523 single base substitution G A intron_variant MELA-AU 2 55015649 55015649 single base substitution C T intron_variant MELA-AU 2 55015726 55015726 single base substitution G A intron_variant MELA-AU 2 55015823 55015823 single base substitution G A intron_variant MELA-AU 2 55015877 55015877 single base substitution T C intron_variant MELA-AU 2 55015990 55015990 single base substitution C T intron_variant MELA-AU 2 55016088 55016088 single base substitution C T intron_variant MELA-AU 2 55016131 55016131 single base substitution C T intron_variant MELA-AU 2 55016206 55016206 single base substitution C T intron_variant MELA-AU 2 55016234 55016234 single base substitution C T intron_variant MELA-AU 2 55016235 55016235 single base substitution C T intron_variant MELA-AU 2 55016256 55016256 single base substitution C T intron_variant MELA-AU 2 55016398 55016398 single base substitution C T intron_variant MELA-AU 2 55016423 55016423 single base substitution G A intron_variant MELA-AU 2 55016638 55016638 single base substitution G A intron_variant MELA-AU 2 55016929 55016929 single base substitution G A intron_variant MELA-AU 2 55017687 55017687 single base substitution C T intron_variant MELA-AU 2 55017732 55017732 single base substitution G A intron_variant MELA-AU 2 55017908 55017908 single base substitution G A intron_variant MELA-AU 2 55018263 55018263 single base substitution A T intron_variant MELA-AU 2 55018324 55018324 single base substitution C T intron_variant MELA-AU 2 55018457 55018457 single base substitution T A intron_variant MELA-AU 2 55018575 55018575 single base substitution A G intron_variant MELA-AU 2 55018657 55018657 single base substitution G A intron_variant MELA-AU 2 55018767 55018767 single base substitution C T intron_variant MELA-AU 2 55018784 55018784 single base substitution C T intron_variant MELA-AU 2 55018891 55018892 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 55018896 55018896 single base substitution C T intron_variant MELA-AU 2 55019055 55019055 single base substitution C T intron_variant MELA-AU 2 55019085 55019085 single base substitution C T intron_variant MELA-AU 2 55019241 55019241 single base substitution G A intron_variant MELA-AU 2 55019381 55019381 single base substitution G A intron_variant MELA-AU 2 55019689 55019689 single base substitution G A intron_variant MELA-AU 2 55020072 55020072 single base substitution T G intron_variant MELA-AU 2 55020083 55020083 single base substitution G A intron_variant MELA-AU 2 55020372 55020372 single base substitution C T intron_variant MELA-AU 2 55020807 55020807 single base substitution C T intron_variant MELA-AU 2 55020809 55020809 single base substitution C T intron_variant MELA-AU 2 55021010 55021010 single base substitution C T intron_variant MELA-AU 2 55021011 55021011 single base substitution C T intron_variant MELA-AU 2 55021216 55021216 single base substitution C T intron_variant MELA-AU 2 55021348 55021348 single base substitution G A intron_variant MELA-AU 2 55021376 55021376 single base substitution G A intron_variant MELA-AU 2 55021530 55021530 single base substitution C T intron_variant MELA-AU 2 55021551 55021551 single base substitution C T intron_variant MELA-AU 2 55021630 55021630 single base substitution G A intron_variant MELA-AU 2 55021721 55021721 single base substitution C T intron_variant MELA-AU 2 55021789 55021789 single base substitution C T intron_variant MELA-AU 2 55022066 55022067 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 55022088 55022088 single base substitution A G intron_variant MELA-AU 2 55022668 55022668 single base substitution G A intron_variant MELA-AU 2 55023244 55023244 single base substitution G A intron_variant MELA-AU 2 55023273 55023273 single base substitution C T intron_variant MELA-AU 2 55023819 55023819 single base substitution T G intron_variant MELA-AU 2 55024083 55024083 single base substitution G A intron_variant MELA-AU 2 55024114 55024114 single base substitution C T intron_variant MELA-AU 2 55024256 55024256 single base substitution C T intron_variant MELA-AU 2 55024419 55024419 single base substitution C T intron_variant MELA-AU 2 55024746 55024746 single base substitution G A intron_variant MELA-AU 2 55024880 55024880 single base substitution C T intron_variant MELA-AU 2 55025250 55025250 single base substitution A G intron_variant MELA-AU 2 55025378 55025378 single base substitution C T intron_variant MELA-AU 2 55025644 55025644 single base substitution C T intron_variant MELA-AU 2 55026074 55026074 single base substitution G A intron_variant MELA-AU 2 55026113 55026113 single base substitution C T intron_variant MELA-AU 2 55026201 55026201 single base substitution C T intron_variant MELA-AU 2 55026401 55026401 single base substitution T C intron_variant MELA-AU 2 55026417 55026417 single base substitution C T intron_variant MELA-AU 2 55026546 55026546 single base substitution G A intron_variant MELA-AU 2 55026943 55026943 single base substitution C T intron_variant MELA-AU 2 55027009 55027009 single base substitution C T intron_variant MELA-AU 2 55027095 55027095 single base substitution G A intron_variant MELA-AU 2 55027132 55027132 single base substitution G A intron_variant MELA-AU 2 55027635 55027635 single base substitution C T intron_variant MELA-AU 2 55027637 55027637 single base substitution G A intron_variant MELA-AU 2 55027907 55027907 single base substitution C T intron_variant MELA-AU 2 55028313 55028313 single base substitution C T intron_variant MELA-AU 2 55028351 55028351 single base substitution G A intron_variant MELA-AU 2 55028365 55028365 single base substitution G A intron_variant MELA-AU 2 55028650 55028650 single base substitution G A intron_variant MELA-AU 2 55028769 55028769 single base substitution C T intron_variant MELA-AU 2 55028910 55028910 single base substitution A T intron_variant MELA-AU 2 55029087 55029087 single base substitution C T intron_variant MELA-AU 2 55029281 55029281 single base substitution C T intron_variant MELA-AU 2 55029793 55029793 single base substitution A G intron_variant MELA-AU 2 55029808 55029808 single base substitution A G intron_variant MELA-AU 2 55030153 55030153 single base substitution C T intron_variant MELA-AU 2 55031035 55031035 single base substitution G A intron_variant MELA-AU 2 55031182 55031182 single base substitution C T intron_variant MELA-AU 2 55031467 55031467 single base substitution G A intron_variant MELA-AU 2 55031526 55031526 single base substitution A G intron_variant MELA-AU 2 55031806 55031806 single base substitution G A intron_variant MELA-AU 2 55031875 55031875 single base substitution C T intron_variant MELA-AU 2 55032211 55032211 single base substitution C T intron_variant MELA-AU 2 55032431 55032431 single base substitution C T intron_variant MELA-AU 2 55032976 55032976 single base substitution G A intron_variant MELA-AU 2 55032989 55032989 single base substitution C T intron_variant MELA-AU 2 55032998 55032998 single base substitution C T intron_variant MELA-AU 2 55033044 55033044 single base substitution C T intron_variant MELA-AU 2 55033177 55033177 single base substitution C T intron_variant MELA-AU 2 55033497 55033498 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 55033633 55033633 single base substitution C T intron_variant MELA-AU 2 55033738 55033738 single base substitution G A intron_variant MELA-AU 2 55033789 55033789 single base substitution C T intron_variant MELA-AU 2 55033921 55033921 single base substitution C T intron_variant MELA-AU 2 55034096 55034096 single base substitution C T intron_variant MELA-AU 2 55034425 55034425 single base substitution C T intron_variant MELA-AU 2 55034598 55034598 single base substitution C T intron_variant MELA-AU 2 55035031 55035038 deletion of <=200bp TTATACGA - intron_variant MELA-AU 2 55035037 55035037 single base substitution G A intron_variant MELA-AU 2 55035205 55035205 single base substitution C T intron_variant MELA-AU 2 55035396 55035396 single base substitution C T intron_variant MELA-AU 2 55035580 55035580 single base substitution G A intron_variant MELA-AU 2 55035881 55035881 single base substitution G A intron_variant MELA-AU 2 55036078 55036078 single base substitution G A intron_variant MELA-AU 2 55036291 55036291 single base substitution A T intron_variant MELA-AU 2 55036545 55036545 single base substitution C T intron_variant MELA-AU 2 55036768 55036768 single base substitution T G intron_variant MELA-AU 2 55036914 55036914 single base substitution C T intron_variant MELA-AU 2 55037126 55037126 single base substitution C T intron_variant MELA-AU 2 55037848 55037848 single base substitution C T intron_variant MELA-AU 2 55037893 55037893 single base substitution C T intron_variant MELA-AU 2 55038273 55038273 single base substitution C T intron_variant MELA-AU 2 55038304 55038304 single base substitution C T intron_variant MELA-AU 2 55038335 55038335 single base substitution C T intron_variant MELA-AU 2 55038347 55038347 single base substitution G A intron_variant MELA-AU 2 55038597 55038597 single base substitution C T intron_variant MELA-AU 2 55038601 55038601 single base substitution C T intron_variant MELA-AU 2 55038917 55038917 single base substitution C A intron_variant MELA-AU 2 55039257 55039257 single base substitution C T intron_variant MELA-AU 2 55039338 55039338 single base substitution G A intron_variant MELA-AU 2 55039544 55039544 single base substitution T A intron_variant MELA-AU 2 55039580 55039580 single base substitution T G intron_variant MELA-AU 2 55039643 55039643 single base substitution G A intron_variant MELA-AU 2 55039737 55039737 single base substitution G A intron_variant MELA-AU 2 55039744 55039744 single base substitution C T intron_variant MELA-AU 2 55039903 55039903 single base substitution C T intron_variant MELA-AU 2 55039933 55039933 single base substitution C T intron_variant MELA-AU 2 55039977 55039977 single base substitution C T intron_variant MELA-AU 2 55040084 55040084 single base substitution C G intron_variant MELA-AU 2 55040094 55040094 single base substitution G A intron_variant MELA-AU 2 55040176 55040176 single base substitution C T intron_variant MELA-AU 2 55040294 55040294 single base substitution G A intron_variant MELA-AU 2 55040431 55040431 single base substitution T C exon_variant MELA-AU 2 55040431 55040431 single base substitution T C missense_variant I87T 260T>C MELA-AU 2 55040501 55040501 single base substitution C T exon_variant MELA-AU 2 55040501 55040501 single base substitution C T synonymous_variant A110A 330C>T MELA-AU 2 55040689 55040689 single base substitution G A intron_variant MELA-AU 2 55040795 55040795 single base substitution C T intron_variant MELA-AU 2 55040838 55040838 single base substitution C T intron_variant MELA-AU 2 55040953 55040953 single base substitution G A intron_variant MELA-AU 2 55041016 55041016 single base substitution T C intron_variant MELA-AU 2 55041038 55041038 single base substitution G A intron_variant MELA-AU 2 55041087 55041087 single base substitution C T intron_variant MELA-AU 2 55041328 55041328 single base substitution T C intron_variant MELA-AU 2 55041416 55041416 single base substitution C T intron_variant MELA-AU 2 55041431 55041431 single base substitution C T intron_variant MELA-AU 2 55041484 55041484 single base substitution C T intron_variant MELA-AU 2 55041541 55041541 single base substitution G A intron_variant MELA-AU 2 55041561 55041561 single base substitution G A intron_variant MELA-AU 2 55041611 55041611 single base substitution C T intron_variant MELA-AU 2 55041641 55041641 single base substitution C T intron_variant MELA-AU 2 55041763 55041763 single base substitution C T intron_variant MELA-AU 2 55041794 55041794 single base substitution G A intron_variant MELA-AU 2 55042103 55042103 single base substitution C T intron_variant MELA-AU 2 55042708 55042708 single base substitution G A intron_variant MELA-AU 2 55042779 55042779 single base substitution C T intron_variant MELA-AU 2 55043810 55043810 single base substitution C T intron_variant MELA-AU 2 55043883 55043883 single base substitution C T intron_variant MELA-AU 2 55044081 55044081 single base substitution C T downstream_gene_variant MELA-AU 2 55044081 55044081 single base substitution C T intron_variant MELA-AU 2 55044135 55044135 single base substitution C T downstream_gene_variant MELA-AU 2 55044135 55044135 single base substitution C T intron_variant MELA-AU 2 55044167 55044167 single base substitution T C downstream_gene_variant MELA-AU 2 55044167 55044167 single base substitution T C intron_variant MELA-AU 2 55044281 55044281 single base substitution T A downstream_gene_variant MELA-AU 2 55044281 55044281 single base substitution T A intron_variant MELA-AU 2 55044338 55044338 single base substitution G A downstream_gene_variant MELA-AU 2 55044338 55044338 single base substitution G A intron_variant MELA-AU 2 55044499 55044499 single base substitution C T downstream_gene_variant MELA-AU 2 55044499 55044499 single base substitution C T intron_variant MELA-AU 2 55044591 55044591 single base substitution C T downstream_gene_variant MELA-AU 2 55044591 55044591 single base substitution C T intron_variant MELA-AU 2 55044723 55044723 single base substitution G A downstream_gene_variant MELA-AU 2 55044723 55044723 single base substitution G A intron_variant MELA-AU 2 55045115 55045115 single base substitution C T downstream_gene_variant MELA-AU 2 55045115 55045115 single base substitution C T intron_variant MELA-AU 2 55045428 55045428 single base substitution G A downstream_gene_variant MELA-AU 2 55045428 55045428 single base substitution G A intron_variant MELA-AU 2 55045520 55045520 single base substitution C T downstream_gene_variant MELA-AU 2 55045520 55045520 single base substitution C T intron_variant MELA-AU 2 55045784 55045784 single base substitution G A downstream_gene_variant MELA-AU 2 55045784 55045784 single base substitution G A intron_variant MELA-AU 2 55045789 55045789 single base substitution C T downstream_gene_variant MELA-AU 2 55045789 55045789 single base substitution C T intron_variant MELA-AU 2 55046172 55046172 single base substitution C T downstream_gene_variant MELA-AU 2 55046172 55046172 single base substitution C T intron_variant MELA-AU 2 55046244 55046244 single base substitution T C downstream_gene_variant MELA-AU 2 55046244 55046244 single base substitution T C intron_variant MELA-AU 2 55046307 55046307 single base substitution G A downstream_gene_variant MELA-AU 2 55046307 55046307 single base substitution G A intron_variant MELA-AU 2 55046499 55046499 single base substitution C T downstream_gene_variant MELA-AU 2 55046499 55046499 single base substitution C T intron_variant MELA-AU 2 55046591 55046591 single base substitution C A downstream_gene_variant MELA-AU 2 55046591 55046591 single base substitution C A intron_variant MELA-AU 2 55046694 55046694 single base substitution C T downstream_gene_variant MELA-AU 2 55046694 55046694 single base substitution C T intron_variant MELA-AU 2 55046740 55046740 single base substitution C T downstream_gene_variant MELA-AU 2 55046740 55046740 single base substitution C T intron_variant MELA-AU 2 55046861 55046861 single base substitution G A downstream_gene_variant MELA-AU 2 55046861 55046861 single base substitution G A intron_variant MELA-AU 2 55047176 55047176 single base substitution A G downstream_gene_variant MELA-AU 2 55047176 55047176 single base substitution A G intron_variant MELA-AU 2 55047605 55047605 single base substitution G A downstream_gene_variant MELA-AU 2 55047605 55047605 single base substitution G A splice_region_variant MELA-AU 2 55047832 55047832 single base substitution G A downstream_gene_variant MELA-AU 2 55047832 55047832 single base substitution G A intron_variant MELA-AU 2 55047856 55047856 single base substitution G A downstream_gene_variant MELA-AU 2 55047856 55047856 single base substitution G A intron_variant MELA-AU 2 55048407 55048407 single base substitution G A downstream_gene_variant MELA-AU 2 55048407 55048407 single base substitution G A intron_variant MELA-AU 2 55048668 55048668 single base substitution C T downstream_gene_variant MELA-AU 2 55048668 55048668 single base substitution C T intron_variant MELA-AU 2 55049105 55049105 single base substitution T A intron_variant MELA-AU 2 55049133 55049133 single base substitution C T intron_variant MELA-AU 2 55049425 55049425 single base substitution G A intron_variant MELA-AU 2 55049642 55049642 single base substitution C T intron_variant MELA-AU 2 55049812 55049812 single base substitution G A intron_variant MELA-AU 2 55050077 55050077 single base substitution C T intron_variant MELA-AU 2 55050281 55050281 single base substitution C T intron_variant MELA-AU 2 55050329 55050329 single base substitution G A intron_variant MELA-AU 2 55050439 55050439 single base substitution G A intron_variant MELA-AU 2 55050665 55050665 single base substitution C T intron_variant MELA-AU 2 55050789 55050789 single base substitution C T intron_variant MELA-AU 2 55050857 55050857 single base substitution C T intron_variant MELA-AU 2 55050885 55050885 single base substitution G A intron_variant MELA-AU 2 55050923 55050923 single base substitution C T intron_variant MELA-AU 2 55050956 55050956 single base substitution C T intron_variant MELA-AU 2 55051100 55051100 single base substitution G A intron_variant MELA-AU 2 55051120 55051120 single base substitution C T intron_variant MELA-AU 2 55051133 55051133 single base substitution C T intron_variant MELA-AU 2 55051293 55051293 single base substitution C T intron_variant MELA-AU 2 55051669 55051669 single base substitution C T intron_variant MELA-AU 2 55051723 55051723 single base substitution C T intron_variant MELA-AU 2 55051763 55051763 single base substitution G A intron_variant MELA-AU 2 55052017 55052017 single base substitution G A intron_variant MELA-AU 2 55052086 55052086 single base substitution A G intron_variant MELA-AU 2 55052112 55052112 single base substitution C T intron_variant MELA-AU 2 55052165 55052165 single base substitution C T intron_variant MELA-AU 2 55052301 55052301 single base substitution C T intron_variant MELA-AU 2 55052480 55052480 single base substitution C T intron_variant MELA-AU 2 55052590 55052590 single base substitution G A intron_variant MELA-AU 2 55052844 55052844 single base substitution C T intron_variant MELA-AU 2 55052846 55052846 single base substitution C T intron_variant MELA-AU 2 55052896 55052896 single base substitution C T intron_variant MELA-AU 2 55052897 55052897 single base substitution C T intron_variant MELA-AU 2 55052911 55052911 single base substitution C T intron_variant MELA-AU 2 55052912 55052912 single base substitution C T intron_variant MELA-AU 2 55052919 55052919 single base substitution C T intron_variant MELA-AU 2 55052950 55052950 single base substitution C T intron_variant MELA-AU 2 55053139 55053139 single base substitution C T intron_variant MELA-AU 2 55053292 55053292 single base substitution C T intron_variant MELA-AU 2 55053327 55053327 single base substitution C T intron_variant MELA-AU 2 55053474 55053474 single base substitution G A intron_variant MELA-AU 2 55054069 55054069 single base substitution G A intron_variant MELA-AU 2 55054069 55054070 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 55054128 55054128 single base substitution G A intron_variant MELA-AU 2 55054198 55054198 single base substitution T C intron_variant MELA-AU 2 55054218 55054218 single base substitution A T intron_variant MELA-AU 2 55054305 55054305 single base substitution C T intron_variant MELA-AU 2 55054404 55054404 single base substitution G A intron_variant MELA-AU 2 55054760 55054761 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant G195K 583GG>AA MELA-AU 2 55054865 55054865 single base substitution C A missense_variant R230S 688C>A MELA-AU 2 55054937 55054937 single base substitution A C intron_variant MELA-AU 2 55055022 55055022 single base substitution C T intron_variant MELA-AU 2 55055314 55055314 single base substitution C T intron_variant MELA-AU 2 55055341 55055341 single base substitution C T intron_variant MELA-AU 2 55055488 55055488 single base substitution C T intron_variant MELA-AU 2 55055664 55055664 single base substitution C T intron_variant MELA-AU 2 55055724 55055724 single base substitution T C intron_variant MELA-AU 2 55055857 55055857 single base substitution C T intron_variant MELA-AU 2 55056021 55056021 single base substitution C A intron_variant MELA-AU 2 55056236 55056236 single base substitution C T intron_variant MELA-AU 2 55056776 55056776 single base substitution C T intron_variant MELA-AU 2 55057106 55057106 single base substitution C T intron_variant MELA-AU 2 55057171 55057171 single base substitution G A intron_variant MELA-AU 2 55057674 55057674 single base substitution C T intron_variant MELA-AU 2 55057773 55057773 single base substitution G A intron_variant MELA-AU 2 55057775 55057775 single base substitution T A intron_variant MELA-AU 2 55057817 55057817 single base substitution C T intron_variant MELA-AU 2 55058388 55058388 single base substitution T G intron_variant MELA-AU 2 55058881 55058881 single base substitution G A intron_variant MELA-AU 2 55059558 55059558 insertion of <=200bp - TGGTCT intron_variant MELA-AU 2 55059906 55059906 single base substitution C T intron_variant MELA-AU 2 55060140 55060140 single base substitution C T intron_variant MELA-AU 2 55060160 55060160 single base substitution G A intron_variant MELA-AU 2 55060212 55060212 single base substitution G T intron_variant MELA-AU 2 55060435 55060435 single base substitution C T intron_variant MELA-AU 2 55060758 55060758 single base substitution C T intron_variant MELA-AU 2 55060925 55060925 single base substitution A C intron_variant MELA-AU 2 55060952 55060952 single base substitution C T intron_variant MELA-AU 2 55060962 55060962 single base substitution C T intron_variant MELA-AU 2 55060963 55060963 single base substitution C T intron_variant MELA-AU 2 55061540 55061540 single base substitution G A intron_variant MELA-AU 2 55061887 55061889 multiple base substitution (>=2bp and <=200bp) TCC AGT intron_variant MELA-AU 2 55062038 55062038 single base substitution G A intron_variant MELA-AU 2 55062066 55062066 single base substitution C T intron_variant MELA-AU 2 55062129 55062129 single base substitution G A intron_variant MELA-AU 2 55062196 55062196 single base substitution T A intron_variant MELA-AU 2 55062508 55062508 single base substitution G A intron_variant MELA-AU 2 55062706 55062706 single base substitution C T intron_variant MELA-AU 2 55063136 55063136 single base substitution C T intron_variant MELA-AU 2 55063765 55063765 single base substitution T A intron_variant MELA-AU 2 55064444 55064444 single base substitution C T intron_variant MELA-AU 2 55065298 55065298 single base substitution A C intron_variant MELA-AU 2 55066104 55066104 single base substitution A G intron_variant MELA-AU 2 55066216 55066216 single base substitution G A intron_variant MELA-AU 2 55066347 55066347 single base substitution G A intron_variant MELA-AU 2 55066416 55066416 single base substitution G T intron_variant MELA-AU 2 55066548 55066548 single base substitution G A intron_variant MELA-AU 2 55066706 55066706 single base substitution C T intron_variant MELA-AU 2 55067103 55067103 single base substitution C T intron_variant MELA-AU 2 55067691 55067691 single base substitution G A intron_variant MELA-AU 2 55067831 55067831 single base substitution C T intron_variant MELA-AU 2 55067859 55067859 single base substitution C T intron_variant MELA-AU 2 55068272 55068272 single base substitution C T intron_variant MELA-AU 2 55068355 55068355 single base substitution C T intron_variant MELA-AU 2 55068466 55068466 single base substitution C T intron_variant MELA-AU 2 55068704 55068704 single base substitution G A intron_variant MELA-AU 2 55068724 55068724 single base substitution T A intron_variant MELA-AU 2 55068849 55068849 single base substitution C T intron_variant MELA-AU 2 55068968 55068968 single base substitution G A intron_variant MELA-AU 2 55069055 55069055 single base substitution T G intron_variant MELA-AU 2 55069117 55069117 single base substitution C T intron_variant MELA-AU 2 55069118 55069119 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 55069712 55069712 single base substitution C T intron_variant MELA-AU 2 55069734 55069734 single base substitution G A intron_variant MELA-AU 2 55069949 55069949 single base substitution G A intron_variant MELA-AU 2 55070147 55070147 single base substitution C T intron_variant MELA-AU 2 55070399 55070399 single base substitution C T intron_variant MELA-AU 2 55070764 55070764 single base substitution G A intron_variant MELA-AU 2 55071293 55071293 single base substitution C T synonymous_variant I319I 957C>T MELA-AU 2 55071428 55071428 single base substitution G A intron_variant MELA-AU 2 55071561 55071561 single base substitution C T intron_variant MELA-AU 2 55071701 55071701 single base substitution C T intron_variant MELA-AU 2 55071773 55071773 single base substitution C T intron_variant MELA-AU 2 55071948 55071948 single base substitution C T intron_variant MELA-AU 2 55072235 55072235 single base substitution C T intron_variant MELA-AU 2 55072498 55072498 single base substitution C T intron_variant MELA-AU 2 55073087 55073087 single base substitution A T intron_variant MELA-AU 2 55073146 55073146 single base substitution C T intron_variant MELA-AU 2 55073214 55073214 single base substitution C T intron_variant MELA-AU 2 55073381 55073381 single base substitution C T intron_variant MELA-AU 2 55073655 55073655 single base substitution C T intron_variant MELA-AU 2 55073784 55073784 single base substitution C T intron_variant MELA-AU 2 55073878 55073878 single base substitution C T intron_variant MELA-AU 2 55074203 55074203 single base substitution T G intron_variant MELA-AU 2 55074420 55074420 single base substitution C T intron_variant MELA-AU 2 55074510 55074510 single base substitution C T intron_variant MELA-AU 2 55074561 55074561 single base substitution G A intron_variant MELA-AU 2 55074588 55074588 single base substitution G A intron_variant MELA-AU 2 55075381 55075381 single base substitution C T intron_variant MELA-AU 2 55076021 55076021 single base substitution C T intron_variant MELA-AU 2 55076021 55076021 single base substitution C T upstream_gene_variant MELA-AU 2 55076052 55076052 single base substitution T C intron_variant MELA-AU 2 55076052 55076052 single base substitution T C upstream_gene_variant MELA-AU 2 55076427 55076427 single base substitution C T intron_variant MELA-AU 2 55076427 55076427 single base substitution C T upstream_gene_variant MELA-AU 2 55076435 55076435 single base substitution G A intron_variant MELA-AU 2 55076435 55076435 single base substitution G A upstream_gene_variant MELA-AU 2 55076592 55076592 single base substitution C T intron_variant MELA-AU 2 55076592 55076592 single base substitution C T upstream_gene_variant MELA-AU 2 55076751 55076751 single base substitution G C intron_variant MELA-AU 2 55076751 55076751 single base substitution G C upstream_gene_variant MELA-AU 2 55076883 55076884 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 55076883 55076884 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 55077123 55077123 single base substitution C T synonymous_variant I404I 1212C>T MELA-AU 2 55077123 55077123 single base substitution C T upstream_gene_variant MELA-AU 2 55077335 55077335 single base substitution G A missense_variant R475Q 1424G>A MELA-AU 2 55077335 55077335 single base substitution G A upstream_gene_variant MELA-AU 2 55077414 55077414 single base substitution G A intron_variant MELA-AU 2 55077414 55077414 single base substitution G A upstream_gene_variant MELA-AU 2 55077512 55077512 single base substitution C T intron_variant MELA-AU 2 55077512 55077512 single base substitution C T upstream_gene_variant MELA-AU 2 55077874 55077874 single base substitution T G intron_variant MELA-AU 2 55077874 55077874 single base substitution T G upstream_gene_variant MELA-AU 2 55078343 55078343 single base substitution C T intron_variant MELA-AU 2 55078343 55078343 single base substitution C T upstream_gene_variant MELA-AU 2 55078471 55078471 single base substitution A G intron_variant MELA-AU 2 55078471 55078471 single base substitution A G upstream_gene_variant MELA-AU 2 55078485 55078486 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 55078485 55078486 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 55079131 55079131 single base substitution G A intron_variant MELA-AU 2 55079131 55079131 single base substitution G A upstream_gene_variant MELA-AU 2 55079141 55079141 single base substitution C T intron_variant MELA-AU 2 55079141 55079141 single base substitution C T upstream_gene_variant MELA-AU 2 55079180 55079180 single base substitution C T intron_variant MELA-AU 2 55079180 55079180 single base substitution C T upstream_gene_variant MELA-AU 2 55079319 55079319 single base substitution G A intron_variant MELA-AU 2 55079319 55079319 single base substitution G A upstream_gene_variant MELA-AU 2 55079373 55079373 single base substitution C T intron_variant MELA-AU 2 55079373 55079373 single base substitution C T upstream_gene_variant MELA-AU 2 55079690 55079690 single base substitution C T intron_variant MELA-AU 2 55079690 55079690 single base substitution C T upstream_gene_variant MELA-AU 2 55080292 55080292 single base substitution G A intron_variant MELA-AU 2 55080292 55080292 single base substitution G A upstream_gene_variant MELA-AU 2 55080370 55080370 single base substitution C T intron_variant MELA-AU 2 55080370 55080370 single base substitution C T upstream_gene_variant MELA-AU 2 55080583 55080583 deletion of <=200bp C - intron_variant MELA-AU 2 55080583 55080583 deletion of <=200bp C - upstream_gene_variant MELA-AU 2 55080977 55080977 single base substitution C T missense_variant P548S 1642C>T MELA-AU 2 55080977 55080977 single base substitution C T upstream_gene_variant MELA-AU 2 55081465 55081465 single base substitution T G intron_variant MELA-AU 2 55081477 55081477 single base substitution G A intron_variant MELA-AU 2 55081766 55081766 single base substitution G A intron_variant MELA-AU 2 55081781 55081781 single base substitution G A intron_variant MELA-AU 2 55081967 55081968 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 55082171 55082171 single base substitution C T intron_variant MELA-AU 2 55082212 55082212 single base substitution G A intron_variant MELA-AU 2 55082514 55082514 single base substitution C T intron_variant MELA-AU 2 55082843 55082843 single base substitution C T intron_variant MELA-AU 2 55083455 55083455 single base substitution C T intron_variant MELA-AU 2 55083555 55083555 single base substitution C T intron_variant MELA-AU 2 55083574 55083574 single base substitution C T intron_variant MELA-AU 2 55083930 55083930 single base substitution G A intron_variant MELA-AU 2 55084171 55084171 single base substitution G A intron_variant MELA-AU 2 55084190 55084190 single base substitution G A intron_variant MELA-AU 2 55084603 55084603 single base substitution G A intron_variant MELA-AU 2 55084756 55084756 single base substitution G A intron_variant MELA-AU 2 55085244 55085244 single base substitution G A intron_variant MELA-AU 2 55085861 55085861 single base substitution C T intron_variant MELA-AU 2 55086084 55086084 single base substitution G A intron_variant MELA-AU 2 55086562 55086562 single base substitution C T intron_variant MELA-AU 2 55087202 55087202 single base substitution G A intron_variant MELA-AU 2 55087235 55087235 single base substitution G A intron_variant MELA-AU 2 55087305 55087305 single base substitution C T intron_variant MELA-AU 2 55087431 55087431 single base substitution G A intron_variant MELA-AU 2 55087657 55087657 single base substitution C T intron_variant MELA-AU 2 55087897 55087897 single base substitution G A intron_variant MELA-AU 2 55087998 55087998 single base substitution T G intron_variant MELA-AU 2 55088021 55088021 single base substitution C T intron_variant MELA-AU 2 55088059 55088059 single base substitution G A intron_variant MELA-AU 2 55088128 55088128 single base substitution G A intron_variant MELA-AU 2 55088253 55088253 single base substitution C T intron_variant MELA-AU 2 55088445 55088445 single base substitution G A intron_variant MELA-AU 2 55088548 55088548 single base substitution G A intron_variant MELA-AU 2 55088658 55088658 single base substitution G A intron_variant MELA-AU 2 55088689 55088689 single base substitution C T intron_variant MELA-AU 2 55088886 55088886 single base substitution G A intron_variant MELA-AU 2 55088899 55088899 single base substitution G A intron_variant MELA-AU 2 55089001 55089001 single base substitution C T intron_variant MELA-AU 2 55089522 55089522 single base substitution C T intron_variant MELA-AU 2 55089547 55089547 single base substitution G A intron_variant MELA-AU 2 55089582 55089582 single base substitution G A intron_variant MELA-AU 2 55089766 55089766 single base substitution C T intron_variant MELA-AU 2 55089767 55089767 single base substitution C T intron_variant MELA-AU 2 55089954 55089954 single base substitution C T intron_variant MELA-AU 2 55090060 55090060 single base substitution G T intron_variant MELA-AU 2 55090234 55090234 single base substitution G A intron_variant MELA-AU 2 55090313 55090313 single base substitution G A intron_variant MELA-AU 2 55090422 55090422 single base substitution C T intron_variant MELA-AU 2 55090716 55090716 single base substitution T C intron_variant MELA-AU 2 55090843 55090843 single base substitution G A intron_variant MELA-AU 2 55090864 55090864 single base substitution C T intron_variant MELA-AU 2 55092365 55092365 single base substitution C T intron_variant MELA-AU 2 55092643 55092643 single base substitution C T intron_variant MELA-AU 2 55092681 55092681 single base substitution G A intron_variant MELA-AU 2 55092774 55092774 single base substitution G A intron_variant MELA-AU 2 55093246 55093246 single base substitution G A intron_variant MELA-AU 2 55093257 55093257 single base substitution G A intron_variant MELA-AU 2 55093379 55093379 single base substitution G A intron_variant MELA-AU 2 55093629 55093629 single base substitution T G intron_variant MELA-AU 2 55093927 55093927 single base substitution C T exon_variant MELA-AU 2 55093927 55093927 single base substitution C T synonymous_variant L653L 1957C>T MELA-AU 2 55093976 55093976 single base substitution G A exon_variant MELA-AU 2 55093976 55093976 single base substitution G A missense_variant R669Q 2006G>A MELA-AU 2 55094013 55094013 single base substitution C T exon_variant MELA-AU 2 55094013 55094013 single base substitution C T synonymous_variant F681F 2043C>T MELA-AU 2 55094260 55094260 single base substitution C T exon_variant MELA-AU 2 55094260 55094260 single base substitution C T intron_variant MELA-AU 2 55094519 55094519 single base substitution T A exon_variant MELA-AU 2 55094519 55094519 single base substitution T A intron_variant MELA-AU 2 55094701 55094701 single base substitution C T exon_variant MELA-AU 2 55094701 55094701 single base substitution C T intron_variant MELA-AU 2 55094774 55094774 single base substitution C T exon_variant MELA-AU 2 55094774 55094774 single base substitution C T intron_variant MELA-AU 2 55094778 55094778 single base substitution G A exon_variant MELA-AU 2 55094778 55094778 single base substitution G A intron_variant MELA-AU 2 55095343 55095343 single base substitution T C exon_variant MELA-AU 2 55095343 55095343 single base substitution T C intron_variant MELA-AU 2 55095966 55095966 single base substitution G A exon_variant MELA-AU 2 55095966 55095966 single base substitution G A intron_variant MELA-AU 2 55096264 55096264 single base substitution C T exon_variant MELA-AU 2 55096264 55096264 single base substitution C T intron_variant MELA-AU 2 55096473 55096473 single base substitution A G exon_variant MELA-AU 2 55096473 55096473 single base substitution A G missense_variant H736R 2207A>G MELA-AU 2 55096794 55096794 single base substitution C T intron_variant MELA-AU 2 55096848 55096848 single base substitution G A intron_variant MELA-AU 2 55097166 55097166 single base substitution C T intron_variant MELA-AU 2 55097276 55097276 single base substitution G A intron_variant MELA-AU 2 55097314 55097314 single base substitution C T intron_variant MELA-AU 2 55097373 55097373 single base substitution G A intron_variant MELA-AU 2 55097446 55097446 single base substitution C T intron_variant MELA-AU 2 55097558 55097558 single base substitution G A intron_variant MELA-AU 2 55097736 55097736 single base substitution C T intron_variant MELA-AU 2 55097815 55097815 single base substitution A T intron_variant MELA-AU 2 55098038 55098038 single base substitution C T intron_variant MELA-AU 2 55098214 55098214 single base substitution C T intron_variant MELA-AU 2 55098521 55098521 single base substitution C T intron_variant MELA-AU 2 55098641 55098641 single base substitution G A exon_variant MELA-AU 2 55098641 55098641 single base substitution G A missense_variant G748E 2243G>A MELA-AU 2 55098851 55098851 single base substitution C T intron_variant MELA-AU 2 55098861 55098861 single base substitution C T intron_variant MELA-AU 2 55098978 55098978 single base substitution C T intron_variant MELA-AU 2 55099032 55099032 single base substitution C T intron_variant MELA-AU 2 55099470 55099470 single base substitution C T intron_variant MELA-AU 2 55099676 55099676 single base substitution C T intron_variant MELA-AU 2 55099775 55099775 single base substitution G A intron_variant MELA-AU 2 55099956 55099956 single base substitution T G intron_variant MELA-AU 2 55100090 55100090 single base substitution T G intron_variant MELA-AU 2 55100136 55100136 single base substitution C T intron_variant MELA-AU 2 55100210 55100210 single base substitution A G intron_variant MELA-AU 2 55100605 55100605 single base substitution G A intron_variant MELA-AU 2 55100701 55100701 single base substitution G A intron_variant MELA-AU 2 55101193 55101193 single base substitution C T intron_variant MELA-AU 2 55101244 55101244 single base substitution C T intron_variant MELA-AU 2 55101348 55101348 single base substitution C T intron_variant MELA-AU 2 55101438 55101438 single base substitution A C intron_variant MELA-AU 2 55101679 55101679 single base substitution C T intron_variant MELA-AU 2 55101703 55101703 single base substitution T C intron_variant MELA-AU 2 55101931 55101931 single base substitution C T intron_variant MELA-AU 2 55102160 55102160 single base substitution C T intron_variant MELA-AU 2 55102628 55102628 single base substitution G A intron_variant MELA-AU 2 55102793 55102793 single base substitution C T intron_variant MELA-AU 2 55102849 55102849 single base substitution C T intron_variant MELA-AU 2 55102898 55102898 single base substitution G A intron_variant MELA-AU 2 55103552 55103552 single base substitution C T intron_variant MELA-AU 2 55103654 55103654 single base substitution A G intron_variant MELA-AU 2 55104222 55104222 single base substitution C T intron_variant MELA-AU 2 55104226 55104227 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 2 55104459 55104459 single base substitution C T intron_variant MELA-AU 2 55104630 55104630 single base substitution G A intron_variant MELA-AU 2 55104949 55104949 single base substitution C T intron_variant MELA-AU 2 55104963 55104963 single base substitution C T intron_variant MELA-AU 2 55105163 55105163 single base substitution G A intron_variant MELA-AU 2 55105859 55105859 single base substitution G A intron_variant MELA-AU 2 55106567 55106567 single base substitution C T intron_variant MELA-AU 2 55106677 55106677 single base substitution C T intron_variant MELA-AU 2 55106677 55106677 single base substitution C T splice_region_variant MELA-AU 2 55106684 55106684 single base substitution C T missense_variant A782V 2345C>T MELA-AU 2 55106684 55106684 single base substitution C T splice_region_variant MELA-AU 2 55106698 55106698 single base substitution C T exon_variant MELA-AU 2 55106698 55106698 single base substitution C T synonymous_variant L787L 2359C>T MELA-AU 2 55106719 55106719 single base substitution G A exon_variant MELA-AU 2 55106719 55106719 single base substitution G A missense_variant D794N 2380G>A MELA-AU 2 55106862 55106862 single base substitution C T exon_variant MELA-AU 2 55106862 55106862 single base substitution C T intron_variant MELA-AU 2 55106989 55106989 single base substitution G A exon_variant MELA-AU 2 55106989 55106989 single base substitution G A intron_variant MELA-AU 2 55106995 55106995 single base substitution C T exon_variant MELA-AU 2 55106995 55106995 single base substitution C T intron_variant MELA-AU 2 55107074 55107074 single base substitution G C exon_variant MELA-AU 2 55107074 55107074 single base substitution G C intron_variant MELA-AU 2 55107314 55107314 single base substitution C T exon_variant MELA-AU 2 55107314 55107314 single base substitution C T intron_variant MELA-AU 2 55107363 55107363 single base substitution C T exon_variant MELA-AU 2 55107363 55107363 single base substitution C T intron_variant MELA-AU 2 55107555 55107555 single base substitution C T exon_variant MELA-AU 2 55107555 55107555 single base substitution C T intron_variant MELA-AU 2 55107612 55107612 single base substitution G A exon_variant MELA-AU 2 55107612 55107612 single base substitution G A intron_variant MELA-AU 2 55107980 55107980 single base substitution T C exon_variant MELA-AU 2 55107980 55107980 single base substitution T C intron_variant MELA-AU 2 55108014 55108014 single base substitution C T exon_variant MELA-AU 2 55108014 55108014 single base substitution C T intron_variant MELA-AU 2 55108052 55108052 single base substitution A G exon_variant MELA-AU 2 55108052 55108052 single base substitution A G intron_variant MELA-AU 2 55108303 55108303 single base substitution C T exon_variant MELA-AU 2 55108303 55108303 single base substitution C T intron_variant MELA-AU 2 55108573 55108573 single base substitution C T exon_variant MELA-AU 2 55108573 55108573 single base substitution C T intron_variant MELA-AU 2 55109053 55109053 single base substitution C T exon_variant MELA-AU 2 55109053 55109053 single base substitution C T intron_variant MELA-AU 2 55109091 55109091 single base substitution G A exon_variant MELA-AU 2 55109091 55109091 single base substitution G A intron_variant MELA-AU 2 55109442 55109442 single base substitution C T exon_variant MELA-AU 2 55109442 55109442 single base substitution C T intron_variant MELA-AU 2 55109952 55109952 single base substitution G A exon_variant MELA-AU 2 55109952 55109952 single base substitution G A intron_variant MELA-AU 2 55109972 55109972 single base substitution G A exon_variant MELA-AU 2 55109972 55109972 single base substitution G A intron_variant MELA-AU 2 55110692 55110692 single base substitution C T downstream_gene_variant MELA-AU 2 55110692 55110692 single base substitution C T intron_variant MELA-AU 2 55111207 55111207 single base substitution C T downstream_gene_variant MELA-AU 2 55111207 55111207 single base substitution C T intron_variant MELA-AU 2 55111259 55111259 single base substitution G A downstream_gene_variant MELA-AU 2 55111259 55111259 single base substitution G A intron_variant MELA-AU 2 55111363 55111363 single base substitution A G downstream_gene_variant MELA-AU 2 55111363 55111363 single base substitution A G intron_variant MELA-AU 2 55111436 55111436 single base substitution C T downstream_gene_variant MELA-AU 2 55111436 55111436 single base substitution C T intron_variant MELA-AU 2 55111449 55111449 single base substitution C T downstream_gene_variant MELA-AU 2 55111449 55111449 single base substitution C T intron_variant MELA-AU 2 55111729 55111729 single base substitution G A downstream_gene_variant MELA-AU 2 55111729 55111729 single base substitution G A intron_variant MELA-AU 2 55111740 55111740 single base substitution G A downstream_gene_variant MELA-AU 2 55111740 55111740 single base substitution G A intron_variant MELA-AU 2 55111859 55111859 single base substitution G A downstream_gene_variant MELA-AU 2 55111859 55111859 single base substitution G A intron_variant MELA-AU 2 55111903 55111903 single base substitution C T downstream_gene_variant MELA-AU 2 55111903 55111903 single base substitution C T intron_variant MELA-AU 2 55112012 55112012 single base substitution C T downstream_gene_variant MELA-AU 2 55112012 55112012 single base substitution C T intron_variant MELA-AU 2 55112024 55112024 single base substitution C T downstream_gene_variant MELA-AU 2 55112024 55112024 single base substitution C T intron_variant MELA-AU 2 55112330 55112330 single base substitution C T downstream_gene_variant MELA-AU 2 55112330 55112330 single base substitution C T intron_variant MELA-AU 2 55112436 55112436 single base substitution T A downstream_gene_variant MELA-AU 2 55112436 55112436 single base substitution T A intron_variant MELA-AU 2 55112538 55112538 single base substitution C T downstream_gene_variant MELA-AU 2 55112538 55112538 single base substitution C T intron_variant MELA-AU 2 55112572 55112572 single base substitution G A downstream_gene_variant MELA-AU 2 55112572 55112572 single base substitution G A intron_variant MELA-AU 2 55112666 55112666 single base substitution C T downstream_gene_variant MELA-AU 2 55112666 55112666 single base substitution C T intron_variant MELA-AU 2 55113047 55113047 single base substitution C T downstream_gene_variant MELA-AU 2 55113047 55113047 single base substitution C T intron_variant MELA-AU 2 55113086 55113086 single base substitution C T downstream_gene_variant MELA-AU 2 55113086 55113086 single base substitution C T intron_variant MELA-AU 2 55113422 55113423 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 2 55113422 55113423 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 55113577 55113577 single base substitution G A downstream_gene_variant MELA-AU 2 55113577 55113577 single base substitution G A intron_variant MELA-AU 2 55113814 55113814 single base substitution C T downstream_gene_variant MELA-AU 2 55113814 55113814 single base substitution C T intron_variant MELA-AU 2 55113911 55113911 single base substitution G T downstream_gene_variant MELA-AU 2 55113911 55113911 single base substitution G T intron_variant MELA-AU 2 55114478 55114478 single base substitution A T downstream_gene_variant MELA-AU 2 55114478 55114478 single base substitution A T intron_variant MELA-AU 2 55114534 55114534 single base substitution G A downstream_gene_variant MELA-AU 2 55114534 55114534 single base substitution G A intron_variant MELA-AU 2 55114988 55114988 single base substitution C T downstream_gene_variant MELA-AU 2 55114988 55114988 single base substitution C T intron_variant MELA-AU 2 55115288 55115288 single base substitution C T intron_variant MELA-AU 2 55115312 55115312 single base substitution C T intron_variant MELA-AU 2 55115322 55115322 single base substitution G A intron_variant MELA-AU 2 55115429 55115429 single base substitution C T intron_variant MELA-AU 2 55115511 55115511 single base substitution G A intron_variant MELA-AU 2 55115656 55115656 single base substitution C T intron_variant MELA-AU 2 55115973 55115973 single base substitution T A intron_variant MELA-AU 2 55116399 55116399 single base substitution C T intron_variant MELA-AU 2 55116452 55116452 single base substitution C T intron_variant MELA-AU 2 55116523 55116523 single base substitution G A intron_variant MELA-AU 2 55116568 55116568 single base substitution G A intron_variant MELA-AU 2 55116570 55116570 single base substitution G A intron_variant MELA-AU 2 55116845 55116845 single base substitution C T intron_variant MELA-AU 2 55116880 55116880 single base substitution C T intron_variant MELA-AU 2 55117147 55117147 single base substitution G A intron_variant MELA-AU 2 55117287 55117287 single base substitution G A intron_variant MELA-AU 2 55117352 55117352 single base substitution C T intron_variant MELA-AU 2 55117670 55117670 single base substitution C T intron_variant MELA-AU 2 55117674 55117674 single base substitution C T intron_variant MELA-AU 2 55117730 55117730 single base substitution G A intron_variant MELA-AU 2 55117761 55117761 single base substitution C T intron_variant MELA-AU 2 55117791 55117791 single base substitution C T intron_variant MELA-AU 2 55117856 55117856 single base substitution C T intron_variant MELA-AU 2 55118034 55118034 single base substitution C T intron_variant MELA-AU 2 55118312 55118312 single base substitution C T intron_variant MELA-AU 2 55118684 55118684 single base substitution C T intron_variant MELA-AU 2 55119322 55119322 single base substitution C T intron_variant MELA-AU 2 55119391 55119391 single base substitution G A intron_variant MELA-AU 2 55119595 55119595 single base substitution G A synonymous_variant G848G 2544G>A MELA-AU 2 55119822 55119822 single base substitution C T intron_variant MELA-AU 2 55119972 55119972 single base substitution C T intron_variant MELA-AU 2 55120216 55120216 single base substitution C T intron_variant MELA-AU 2 55120221 55120221 single base substitution C T intron_variant MELA-AU 2 55120317 55120317 single base substitution C T intron_variant MELA-AU 2 55121266 55121266 single base substitution C A intron_variant MELA-AU 2 55121394 55121394 single base substitution G A intron_variant MELA-AU 2 55121555 55121555 single base substitution C T intron_variant MELA-AU 2 55121598 55121598 single base substitution G A intron_variant MELA-AU 2 55121914 55121914 single base substitution C T intron_variant MELA-AU 2 55121926 55121926 single base substitution C T intron_variant MELA-AU 2 55121993 55121993 single base substitution C T intron_variant MELA-AU 2 55122060 55122060 single base substitution A T synonymous_variant V917V 2751A>T MELA-AU 2 55122068 55122068 single base substitution G A missense_variant G920E 2759G>A MELA-AU 2 55122164 55122164 single base substitution G A splice_donor_variant MELA-AU 2 55122268 55122268 single base substitution C T intron_variant MELA-AU 2 55122398 55122398 single base substitution C T intron_variant MELA-AU 2 55122535 55122535 single base substitution C T stop_gained Q994* 2980C>T MELA-AU 2 55122764 55122764 single base substitution G A intron_variant MELA-AU 2 55123243 55123243 single base substitution C T intron_variant MELA-AU 2 55123376 55123376 single base substitution G A intron_variant MELA-AU 2 55123897 55123897 single base substitution C T intron_variant MELA-AU 2 55123979 55123979 single base substitution C T intron_variant MELA-AU 2 55124358 55124358 single base substitution C T intron_variant MELA-AU 2 55124409 55124409 single base substitution G C intron_variant MELA-AU 2 55124559 55124559 single base substitution C T intron_variant MELA-AU 2 55124653 55124653 single base substitution G A intron_variant MELA-AU 2 55125001 55125001 single base substitution C T intron_variant MELA-AU 2 55125201 55125201 single base substitution G A intron_variant MELA-AU 2 55125231 55125231 single base substitution C T intron_variant MELA-AU 2 55125279 55125279 single base substitution T C intron_variant MELA-AU 2 55125298 55125298 single base substitution G A intron_variant MELA-AU 2 55126022 55126022 single base substitution C T intron_variant MELA-AU 2 55126496 55126496 single base substitution G A intron_variant MELA-AU 2 55126543 55126543 single base substitution C T intron_variant MELA-AU 2 55126730 55126730 single base substitution C T intron_variant MELA-AU 2 55127007 55127007 single base substitution G A intron_variant MELA-AU 2 55127245 55127245 single base substitution T C intron_variant MELA-AU 2 55127419 55127419 single base substitution G A intron_variant MELA-AU 2 55127876 55127876 single base substitution G A intron_variant MELA-AU 2 55128422 55128422 single base substitution C T intron_variant MELA-AU 2 55128484 55128484 single base substitution G A intron_variant MELA-AU 2 55128669 55128669 single base substitution G A intron_variant MELA-AU 2 55128816 55128816 single base substitution C T intron_variant MELA-AU 2 55128937 55128937 single base substitution C T intron_variant MELA-AU 2 55129363 55129363 single base substitution C T intron_variant MELA-AU 2 55129399 55129399 single base substitution C T intron_variant MELA-AU 2 55129452 55129452 single base substitution C T intron_variant MELA-AU 2 55129514 55129514 single base substitution C T intron_variant MELA-AU 2 55129909 55129909 single base substitution G A intron_variant MELA-AU 2 55130044 55130044 single base substitution T A intron_variant MELA-AU 2 55130168 55130168 single base substitution G A intron_variant MELA-AU 2 55130202 55130202 single base substitution C A missense_variant S1049Y 3146C>A MELA-AU 2 55130427 55130427 single base substitution C T intron_variant MELA-AU 2 55130463 55130464 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 55130514 55130514 single base substitution G A missense_variant G1095E 3284G>A MELA-AU 2 55130977 55130977 single base substitution C T intron_variant MELA-AU 2 55131237 55131237 single base substitution G A intron_variant MELA-AU 2 55131516 55131516 single base substitution C T intron_variant MELA-AU 2 55131545 55131545 single base substitution G A intron_variant MELA-AU 2 55131573 55131573 single base substitution C T intron_variant MELA-AU 2 55131581 55131581 single base substitution G A intron_variant MELA-AU 2 55131695 55131695 single base substitution C T intron_variant MELA-AU 2 55131891 55131891 single base substitution C T intron_variant MELA-AU 2 55132252 55132252 single base substitution T G intron_variant MELA-AU 2 55132325 55132325 single base substitution G A intron_variant MELA-AU 2 55132385 55132385 single base substitution A C intron_variant MELA-AU 2 55132593 55132593 single base substitution G A intron_variant MELA-AU 2 55132762 55132762 single base substitution C T intron_variant MELA-AU 2 55132900 55132900 single base substitution C T intron_variant MELA-AU 2 55133119 55133119 single base substitution G A intron_variant MELA-AU 2 55133230 55133230 single base substitution G A intron_variant MELA-AU 2 55133496 55133496 single base substitution G A intron_variant MELA-AU 2 55133529 55133529 single base substitution G A intron_variant MELA-AU 2 55133702 55133702 single base substitution T A intron_variant MELA-AU 2 55133721 55133721 single base substitution C T intron_variant MELA-AU 2 55134291 55134291 single base substitution G A intron_variant MELA-AU 2 55134527 55134527 single base substitution C T intron_variant MELA-AU 2 55134694 55134694 single base substitution C T intron_variant MELA-AU 2 55135256 55135256 single base substitution C T intron_variant MELA-AU 2 55135615 55135615 single base substitution A T intron_variant MELA-AU 2 55135702 55135702 single base substitution G A intron_variant MELA-AU 2 55136131 55136131 single base substitution G A intron_variant MELA-AU 2 55136547 55136547 single base substitution G A intron_variant MELA-AU 2 55136956 55136956 single base substitution C T intron_variant MELA-AU 2 55137067 55137067 single base substitution G A intron_variant MELA-AU 2 55137148 55137148 single base substitution G A intron_variant MELA-AU 2 55137218 55137218 single base substitution G A intron_variant MELA-AU 2 55137250 55137250 single base substitution T C intron_variant MELA-AU 2 55137531 55137531 single base substitution C T intron_variant MELA-AU 2 55137768 55137768 single base substitution G A intron_variant MELA-AU 2 55138198 55138198 single base substitution G A intron_variant MELA-AU 2 55138341 55138341 single base substitution C T intron_variant MELA-AU 2 55138407 55138407 single base substitution C T intron_variant MELA-AU 2 55138424 55138424 single base substitution G A intron_variant MELA-AU 2 55138528 55138528 single base substitution G A intron_variant MELA-AU 2 55138567 55138567 single base substitution G A intron_variant MELA-AU 2 55138625 55138625 single base substitution G A intron_variant MELA-AU 2 55138676 55138676 single base substitution C T intron_variant MELA-AU 2 55138928 55138928 single base substitution C T intron_variant MELA-AU 2 55138978 55138978 single base substitution G A intron_variant MELA-AU 2 55139093 55139093 single base substitution A T intron_variant MELA-AU 2 55139572 55139572 single base substitution C T intron_variant MELA-AU 2 55139573 55139573 single base substitution G A intron_variant MELA-AU 2 55139928 55139928 single base substitution C T intron_variant MELA-AU 2 55140157 55140157 single base substitution C T intron_variant MELA-AU 2 55140453 55140453 single base substitution C G intron_variant MELA-AU 2 55140494 55140494 single base substitution C T intron_variant MELA-AU 2 55140988 55140988 single base substitution G A intron_variant MELA-AU 2 55140998 55140998 single base substitution C T intron_variant MELA-AU 2 55141091 55141091 single base substitution G A intron_variant MELA-AU 2 55141371 55141371 single base substitution G A intron_variant MELA-AU 2 55141526 55141526 single base substitution C T intron_variant MELA-AU 2 55141648 55141648 single base substitution G A intron_variant MELA-AU 2 55141655 55141655 single base substitution C T intron_variant MELA-AU 2 55141861 55141861 single base substitution C T intron_variant MELA-AU 2 55141906 55141906 single base substitution T C intron_variant MELA-AU 2 55142166 55142166 single base substitution T A intron_variant MELA-AU 2 55142196 55142196 single base substitution G A intron_variant MELA-AU 2 55142204 55142204 single base substitution C T intron_variant MELA-AU 2 55142253 55142253 single base substitution A C intron_variant MELA-AU 2 55142257 55142257 deletion of <=200bp A - intron_variant MELA-AU 2 55142338 55142338 single base substitution G T intron_variant MELA-AU 2 55142565 55142565 single base substitution C T intron_variant MELA-AU 2 55142646 55142646 single base substitution G A intron_variant MELA-AU 2 55143052 55143052 single base substitution C T intron_variant MELA-AU 2 55143065 55143065 single base substitution A C intron_variant MELA-AU 2 55143128 55143128 single base substitution C T intron_variant MELA-AU 2 55143304 55143304 single base substitution C T intron_variant MELA-AU 2 55143307 55143307 single base substitution G A intron_variant MELA-AU 2 55143369 55143369 single base substitution C T intron_variant MELA-AU 2 55143428 55143428 single base substitution G A intron_variant MELA-AU 2 55143736 55143736 single base substitution A C intron_variant MELA-AU 2 55143772 55143772 single base substitution C T intron_variant MELA-AU 2 55144041 55144041 single base substitution G A missense_variant G1215D 3644G>A MELA-AU 2 55144045 55144045 single base substitution C T synonymous_variant F1216F 3648C>T MELA-AU 2 55144441 55144441 single base substitution T C intron_variant MELA-AU 2 55144768 55144768 single base substitution G A intron_variant MELA-AU 2 55144794 55144794 single base substitution G A intron_variant MELA-AU 2 55145063 55145063 single base substitution G A intron_variant MELA-AU 2 55145518 55145518 single base substitution C T intron_variant MELA-AU 2 55145852 55145852 single base substitution C T intron_variant MELA-AU 2 55146073 55146073 single base substitution C T intron_variant MELA-AU 2 55146136 55146136 single base substitution C T intron_variant MELA-AU 2 55146270 55146270 single base substitution C T intron_variant MELA-AU 2 55146389 55146389 single base substitution C T intron_variant MELA-AU 2 55146709 55146709 single base substitution C T intron_variant MELA-AU 2 55146905 55146905 single base substitution C T intron_variant MELA-AU 2 55146965 55146965 single base substitution C T intron_variant MELA-AU 2 55147020 55147020 single base substitution C T intron_variant MELA-AU 2 55147058 55147058 single base substitution T A intron_variant MELA-AU 2 55147298 55147298 single base substitution G A intron_variant MELA-AU 2 55147406 55147406 single base substitution A G intron_variant MELA-AU 2 55147502 55147503 multiple base substitution (>=2bp and <=200bp) AG TA intron_variant MELA-AU 2 55147622 55147622 single base substitution C T intron_variant MELA-AU 2 55148045 55148045 single base substitution C T intron_variant MELA-AU 2 55148358 55148358 single base substitution C T intron_variant MELA-AU 2 55148498 55148498 single base substitution T C intron_variant MELA-AU 2 55148501 55148501 single base substitution A G intron_variant MELA-AU 2 55148558 55148558 single base substitution C T intron_variant MELA-AU 2 55148559 55148559 single base substitution G A intron_variant MELA-AU 2 55148585 55148585 single base substitution G A intron_variant MELA-AU 2 55148708 55148708 single base substitution G A intron_variant MELA-AU 2 55149069 55149070 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 55149162 55149162 single base substitution G A intron_variant MELA-AU 2 55149313 55149313 deletion of <=200bp T - intron_variant MELA-AU 2 55149401 55149401 single base substitution C T intron_variant MELA-AU 2 55149691 55149691 single base substitution G A intron_variant MELA-AU 2 55149865 55149865 single base substitution G A intron_variant MELA-AU 2 55150298 55150298 single base substitution G A intron_variant MELA-AU 2 55150319 55150320 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 55150714 55150714 single base substitution C T intron_variant MELA-AU 2 55150916 55150916 single base substitution C T intron_variant MELA-AU 2 55150969 55150969 single base substitution C T intron_variant MELA-AU 2 55151236 55151236 single base substitution G A intron_variant MELA-AU 2 55151242 55151242 single base substitution T G intron_variant MELA-AU 2 55151348 55151348 single base substitution C T intron_variant MELA-AU 2 55151523 55151523 single base substitution G A intron_variant MELA-AU 2 55151690 55151690 single base substitution T A intron_variant MELA-AU 2 55151737 55151737 single base substitution T G intron_variant MELA-AU 2 55151789 55151789 single base substitution C T intron_variant MELA-AU 2 55151868 55151868 single base substitution T G intron_variant MELA-AU 2 55151886 55151886 single base substitution G A intron_variant MELA-AU 2 55151896 55151896 single base substitution C T intron_variant MELA-AU 2 55151899 55151899 single base substitution C T intron_variant MELA-AU 2 55151998 55151998 single base substitution C A intron_variant MELA-AU 2 55152524 55152525 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 55152687 55152687 single base substitution C T intron_variant MELA-AU 2 55152775 55152775 single base substitution C T intron_variant MELA-AU 2 55152776 55152776 single base substitution C T intron_variant MELA-AU 2 55152893 55152893 single base substitution G A intron_variant MELA-AU 2 55152950 55152950 single base substitution C T intron_variant MELA-AU 2 55152972 55152972 single base substitution G A intron_variant MELA-AU 2 55153054 55153054 single base substitution C T intron_variant MELA-AU 2 55153349 55153349 single base substitution C T intron_variant MELA-AU 2 55153449 55153449 single base substitution G A intron_variant MELA-AU 2 55153567 55153567 single base substitution C T intron_variant MELA-AU 2 55153701 55153701 single base substitution C T intron_variant MELA-AU 2 55153912 55153912 single base substitution C T intron_variant MELA-AU 2 55153913 55153913 single base substitution C T intron_variant MELA-AU 2 55153944 55153944 single base substitution C T intron_variant MELA-AU 2 55154137 55154138 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 55154224 55154224 single base substitution G A intron_variant MELA-AU 2 55154292 55154292 single base substitution G A intron_variant MELA-AU 2 55154412 55154412 single base substitution G A intron_variant MELA-AU 2 55154830 55154830 single base substitution C T intron_variant MELA-AU 2 55154910 55154910 single base substitution C T intron_variant MELA-AU 2 55155268 55155268 single base substitution G T intron_variant MELA-AU 2 55155338 55155338 single base substitution G A intron_variant MELA-AU 2 55155359 55155359 single base substitution C T intron_variant MELA-AU 2 55155876 55155876 single base substitution C T missense_variant S1331F 3992C>T MELA-AU 2 55155963 55155963 single base substitution C T intron_variant MELA-AU 2 55156120 55156120 single base substitution G A intron_variant MELA-AU 2 55156274 55156274 single base substitution G A intron_variant MELA-AU 2 55156629 55156629 single base substitution C T intron_variant MELA-AU 2 55156891 55156891 single base substitution A G intron_variant MELA-AU 2 55157129 55157129 single base substitution G A intron_variant MELA-AU 2 55157138 55157138 single base substitution A T intron_variant MELA-AU 2 55157407 55157407 single base substitution C T intron_variant MELA-AU 2 55157497 55157497 single base substitution C T intron_variant MELA-AU 2 55157704 55157704 single base substitution G A intron_variant MELA-AU 2 55157808 55157808 single base substitution C T intron_variant MELA-AU 2 55157829 55157829 single base substitution C T intron_variant MELA-AU 2 55157865 55157865 single base substitution C T intron_variant MELA-AU 2 55158366 55158366 single base substitution T C intron_variant MELA-AU 2 55158583 55158583 single base substitution G A intron_variant MELA-AU 2 55158593 55158593 single base substitution G A intron_variant MELA-AU 2 55158811 55158811 single base substitution C T intron_variant MELA-AU 2 55159087 55159087 single base substitution C T intron_variant MELA-AU 2 55159343 55159343 single base substitution C T intron_variant MELA-AU 2 55159431 55159431 single base substitution C T intron_variant MELA-AU 2 55159525 55159525 single base substitution C T intron_variant MELA-AU 2 55159683 55159683 single base substitution C T intron_variant MELA-AU 2 55159769 55159769 single base substitution C T intron_variant MELA-AU 2 55159791 55159791 single base substitution G A intron_variant MELA-AU 2 55160185 55160185 single base substitution C T intron_variant MELA-AU 2 55160282 55160282 single base substitution G A intron_variant MELA-AU 2 55160805 55160805 single base substitution G T intron_variant MELA-AU 2 55161019 55161019 single base substitution C T intron_variant MELA-AU 2 55161460 55161460 single base substitution C T intron_variant MELA-AU 2 55161466 55161466 single base substitution G A intron_variant MELA-AU 2 55161780 55161780 single base substitution G A intron_variant MELA-AU 2 55161915 55161915 single base substitution C T intron_variant MELA-AU 2 55162036 55162036 single base substitution G A intron_variant MELA-AU 2 55162372 55162372 single base substitution C T intron_variant MELA-AU 2 55162414 55162414 single base substitution G A intron_variant MELA-AU 2 55162478 55162478 single base substitution A G intron_variant MELA-AU 2 55163030 55163030 single base substitution G A intron_variant MELA-AU 2 55163353 55163353 single base substitution G A intron_variant MELA-AU 2 55163549 55163549 single base substitution C G intron_variant MELA-AU 2 55163715 55163715 single base substitution T G intron_variant MELA-AU 2 55163955 55163955 single base substitution C T intron_variant MELA-AU 2 55164034 55164034 single base substitution C T intron_variant MELA-AU 2 55164248 55164248 single base substitution C T intron_variant MELA-AU 2 55164339 55164339 single base substitution C T intron_variant MELA-AU 2 55164482 55164482 single base substitution G A intron_variant MELA-AU 2 55164517 55164517 single base substitution G A intron_variant MELA-AU 2 55164529 55164529 single base substitution G A intron_variant MELA-AU 2 55165280 55165280 single base substitution C T intron_variant MELA-AU 2 55165377 55165377 single base substitution G A intron_variant MELA-AU 2 55165386 55165386 single base substitution G A intron_variant MELA-AU 2 55165393 55165393 single base substitution G A intron_variant MELA-AU 2 55165933 55165933 single base substitution C T intron_variant MELA-AU 2 55166136 55166136 single base substitution G A intron_variant MELA-AU 2 55166834 55166834 single base substitution C T intron_variant MELA-AU 2 55167320 55167320 single base substitution T C intron_variant MELA-AU 2 55167911 55167911 single base substitution G A intron_variant MELA-AU 2 55168496 55168496 single base substitution C T intron_variant MELA-AU 2 55168753 55168753 single base substitution G A intron_variant MELA-AU 2 55169058 55169058 single base substitution G A intron_variant MELA-AU 2 55169063 55169063 single base substitution G A intron_variant MELA-AU 2 55169105 55169105 single base substitution C T intron_variant MELA-AU 2 55169410 55169410 single base substitution C T intron_variant MELA-AU 2 55169651 55169651 single base substitution G A intron_variant MELA-AU 2 55169897 55169897 single base substitution G A intron_variant MELA-AU 2 55169921 55169921 single base substitution T C intron_variant MELA-AU 2 55170441 55170441 single base substitution C T intron_variant MELA-AU 2 55170558 55170558 single base substitution C T intron_variant MELA-AU 2 55170643 55170643 single base substitution C A intron_variant MELA-AU 2 55171209 55171209 single base substitution G A intron_variant MELA-AU 2 55171209 55171209 single base substitution G A upstream_gene_variant MELA-AU 2 55171302 55171302 single base substitution C T intron_variant MELA-AU 2 55171302 55171302 single base substitution C T upstream_gene_variant MELA-AU 2 55171344 55171344 single base substitution A G intron_variant MELA-AU 2 55171344 55171344 single base substitution A G upstream_gene_variant MELA-AU 2 55171406 55171406 single base substitution C T intron_variant MELA-AU 2 55171406 55171406 single base substitution C T upstream_gene_variant MELA-AU 2 55171408 55171408 single base substitution C T intron_variant MELA-AU 2 55171408 55171408 single base substitution C T upstream_gene_variant MELA-AU 2 55171618 55171618 single base substitution C T intron_variant MELA-AU 2 55171618 55171618 single base substitution C T upstream_gene_variant MELA-AU 2 55171837 55171837 single base substitution G A intron_variant MELA-AU 2 55171837 55171837 single base substitution G A upstream_gene_variant MELA-AU 2 55171895 55171895 single base substitution A G intron_variant MELA-AU 2 55171895 55171895 single base substitution A G upstream_gene_variant MELA-AU 2 55172059 55172059 single base substitution C T intron_variant MELA-AU 2 55172059 55172059 single base substitution C T upstream_gene_variant MELA-AU 2 55172067 55172067 single base substitution G A intron_variant MELA-AU 2 55172067 55172067 single base substitution G A upstream_gene_variant MELA-AU 2 55172408 55172408 single base substitution C T intron_variant MELA-AU 2 55172408 55172408 single base substitution C T upstream_gene_variant MELA-AU 2 55172452 55172452 single base substitution C T intron_variant MELA-AU 2 55172452 55172452 single base substitution C T upstream_gene_variant MELA-AU 2 55172857 55172857 single base substitution C T intron_variant MELA-AU 2 55172857 55172857 single base substitution C T upstream_gene_variant MELA-AU 2 55173669 55173669 single base substitution C T intron_variant MELA-AU 2 55173669 55173669 single base substitution C T upstream_gene_variant MELA-AU 2 55174391 55174391 single base substitution G A intron_variant MELA-AU 2 55174391 55174391 single base substitution G A upstream_gene_variant MELA-AU 2 55174694 55174694 single base substitution G A intron_variant MELA-AU 2 55174694 55174694 single base substitution G A upstream_gene_variant MELA-AU 2 55174807 55174807 single base substitution C T intron_variant MELA-AU 2 55174807 55174807 single base substitution C T upstream_gene_variant MELA-AU 2 55174949 55174949 single base substitution G A intron_variant MELA-AU 2 55174949 55174949 single base substitution G A upstream_gene_variant MELA-AU 2 55175367 55175367 single base substitution G A intron_variant MELA-AU 2 55175367 55175367 single base substitution G A upstream_gene_variant MELA-AU 2 55175739 55175739 single base substitution C T intron_variant MELA-AU 2 55175739 55175739 single base substitution C T upstream_gene_variant MELA-AU 2 55175897 55175897 single base substitution G A intron_variant MELA-AU 2 55175897 55175897 single base substitution G A upstream_gene_variant MELA-AU 2 55176158 55176158 single base substitution C T intron_variant MELA-AU 2 55176205 55176205 single base substitution C T intron_variant MELA-AU 2 55176205 55176205 single base substitution C T upstream_gene_variant MELA-AU 2 55176221 55176221 single base substitution T C intron_variant MELA-AU 2 55176221 55176221 single base substitution T C upstream_gene_variant MELA-AU 2 55176576 55176576 single base substitution G A intron_variant MELA-AU 2 55176576 55176576 single base substitution G A upstream_gene_variant MELA-AU 2 55176828 55176828 single base substitution C T intron_variant MELA-AU 2 55176828 55176828 single base substitution C T upstream_gene_variant MELA-AU 2 55176957 55176957 single base substitution C T intron_variant MELA-AU 2 55176957 55176957 single base substitution C T upstream_gene_variant MELA-AU 2 55177086 55177086 single base substitution G A intron_variant MELA-AU 2 55177086 55177086 single base substitution G A upstream_gene_variant MELA-AU 2 55177156 55177156 single base substitution G A intron_variant MELA-AU 2 55177156 55177156 single base substitution G A upstream_gene_variant MELA-AU 2 55177417 55177417 single base substitution C T intron_variant MELA-AU 2 55177417 55177417 single base substitution C T upstream_gene_variant MELA-AU 2 55177504 55177504 single base substitution G A intron_variant MELA-AU 2 55177504 55177504 single base substitution G A upstream_gene_variant MELA-AU 2 55177540 55177540 single base substitution G A intron_variant MELA-AU 2 55177540 55177540 single base substitution G A upstream_gene_variant MELA-AU 2 55177920 55177920 single base substitution A G splice_region_variant MELA-AU 2 55177920 55177920 single base substitution A G upstream_gene_variant MELA-AU 2 55178039 55178039 single base substitution C T intron_variant MELA-AU 2 55178039 55178039 single base substitution C T upstream_gene_variant MELA-AU 2 55178224 55178224 single base substitution G A intron_variant MELA-AU 2 55178224 55178224 single base substitution G A upstream_gene_variant MELA-AU 2 55178467 55178467 single base substitution C T intron_variant MELA-AU 2 55178467 55178467 single base substitution C T upstream_gene_variant MELA-AU 2 55178477 55178478 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 55178477 55178478 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 2 55178657 55178657 single base substitution G A intron_variant MELA-AU 2 55178657 55178657 single base substitution G A upstream_gene_variant MELA-AU 2 55179661 55179661 single base substitution G A intron_variant MELA-AU 2 55179661 55179661 single base substitution G A upstream_gene_variant MELA-AU 2 55179669 55179669 single base substitution G A intron_variant MELA-AU 2 55179669 55179669 single base substitution G A upstream_gene_variant MELA-AU 2 55179803 55179803 single base substitution G A exon_variant MELA-AU 2 55179803 55179803 single base substitution G A missense_variant R1429K 4286G>A MELA-AU 2 55179803 55179803 single base substitution G A upstream_gene_variant MELA-AU 2 55179900 55179900 single base substitution G A intron_variant MELA-AU 2 55179900 55179900 single base substitution G A upstream_gene_variant MELA-AU 2 55180149 55180149 single base substitution T A intron_variant MELA-AU 2 55180149 55180149 single base substitution T A upstream_gene_variant MELA-AU 2 55180250 55180250 single base substitution C T intron_variant MELA-AU 2 55180250 55180250 single base substitution C T upstream_gene_variant MELA-AU 2 55180334 55180334 single base substitution C T intron_variant MELA-AU 2 55180334 55180334 single base substitution C T upstream_gene_variant MELA-AU 2 55180468 55180468 single base substitution T A intron_variant MELA-AU 2 55180468 55180468 single base substitution T A upstream_gene_variant MELA-AU 2 55180891 55180891 single base substitution G A intron_variant MELA-AU 2 55180891 55180891 single base substitution G A upstream_gene_variant MELA-AU 2 55181145 55181145 single base substitution G A exon_variant MELA-AU 2 55181145 55181145 single base substitution G A stop_gained W1446* 4338G>A MELA-AU 2 55181145 55181145 single base substitution G A upstream_gene_variant MELA-AU 2 55181349 55181349 single base substitution C T intron_variant MELA-AU 2 55181473 55181473 single base substitution C T intron_variant MELA-AU 2 55181515 55181516 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 55182091 55182091 single base substitution C T intron_variant MELA-AU 2 55182153 55182153 single base substitution G A intron_variant MELA-AU 2 55182342 55182342 single base substitution G A intron_variant MELA-AU 2 55182511 55182512 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 2 55182855 55182855 single base substitution G A intron_variant MELA-AU 2 55182896 55182896 single base substitution G A intron_variant MELA-AU 2 55182977 55182977 single base substitution C T intron_variant MELA-AU 2 55183905 55183905 single base substitution G A intron_variant MELA-AU 2 55184110 55184110 single base substitution G A intron_variant MELA-AU 2 55184546 55184546 single base substitution G A intron_variant MELA-AU 2 55185030 55185030 single base substitution G A exon_variant MELA-AU 2 55185030 55185030 single base substitution G A missense_variant M1530I 4590G>A MELA-AU 2 55185519 55185519 single base substitution G A intron_variant MELA-AU 2 55185572 55185572 single base substitution G A intron_variant MELA-AU 2 55185908 55185908 single base substitution G A intron_variant MELA-AU 2 55186169 55186169 single base substitution G A intron_variant MELA-AU 2 55186169 55186169 single base substitution G A upstream_gene_variant MELA-AU 2 55186177 55186177 single base substitution G T intron_variant MELA-AU 2 55186177 55186177 single base substitution G T upstream_gene_variant MELA-AU 2 55186572 55186572 single base substitution G A intron_variant MELA-AU 2 55186572 55186572 single base substitution G A upstream_gene_variant MELA-AU 2 55186704 55186704 single base substitution G A intron_variant MELA-AU 2 55186704 55186704 single base substitution G A upstream_gene_variant MELA-AU 2 55187117 55187117 single base substitution C T intron_variant MELA-AU 2 55187117 55187117 single base substitution C T upstream_gene_variant MELA-AU 2 55187441 55187441 single base substitution G A downstream_gene_variant MELA-AU 2 55187441 55187441 single base substitution G A exon_variant MELA-AU 2 55187441 55187441 single base substitution G A missense_variant E1647K 4939G>A MELA-AU 2 55187441 55187441 single base substitution G A upstream_gene_variant MELA-AU 2 55188069 55188069 single base substitution C T downstream_gene_variant MELA-AU 2 55188069 55188069 single base substitution C T intron_variant MELA-AU 2 55188069 55188069 single base substitution C T upstream_gene_variant MELA-AU 2 55188181 55188181 single base substitution G A downstream_gene_variant MELA-AU 2 55188181 55188181 single base substitution G A intron_variant MELA-AU 2 55188181 55188181 single base substitution G A upstream_gene_variant MELA-AU 2 55188295 55188296 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 55188295 55188296 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 2 55188295 55188296 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 2 55188424 55188424 single base substitution G A downstream_gene_variant MELA-AU 2 55188424 55188424 single base substitution G A intron_variant MELA-AU 2 55188424 55188424 single base substitution G A upstream_gene_variant MELA-AU 2 55188898 55188898 single base substitution G A downstream_gene_variant MELA-AU 2 55188898 55188898 single base substitution G A intron_variant MELA-AU 2 55188898 55188898 single base substitution G A upstream_gene_variant MELA-AU 2 55189054 55189054 single base substitution C T downstream_gene_variant MELA-AU 2 55189054 55189054 single base substitution C T intron_variant MELA-AU 2 55189054 55189054 single base substitution C T upstream_gene_variant MELA-AU 2 55189675 55189675 single base substitution G A downstream_gene_variant MELA-AU 2 55189675 55189675 single base substitution G A exon_variant MELA-AU 2 55189675 55189675 single base substitution G A missense_variant G1662E 4985G>A MELA-AU 2 55189675 55189675 single base substitution G A upstream_gene_variant MELA-AU 2 55189962 55189962 single base substitution G A downstream_gene_variant MELA-AU 2 55189962 55189962 single base substitution G A intron_variant MELA-AU 2 55189962 55189962 single base substitution G A upstream_gene_variant MELA-AU 2 55190149 55190149 single base substitution G A downstream_gene_variant MELA-AU 2 55190149 55190149 single base substitution G A intron_variant MELA-AU 2 55190149 55190149 single base substitution G A upstream_gene_variant MELA-AU 2 55190518 55190518 single base substitution C T downstream_gene_variant MELA-AU 2 55190518 55190518 single base substitution C T intron_variant MELA-AU 2 55190518 55190518 single base substitution C T upstream_gene_variant MELA-AU 2 55190563 55190563 single base substitution A G downstream_gene_variant MELA-AU 2 55190563 55190563 single base substitution A G intron_variant MELA-AU 2 55190563 55190563 single base substitution A G upstream_gene_variant MELA-AU 2 55191046 55191046 single base substitution G T downstream_gene_variant MELA-AU 2 55191046 55191046 single base substitution G T intron_variant MELA-AU 2 55191046 55191046 single base substitution G T upstream_gene_variant MELA-AU 2 55191918 55191918 single base substitution T C downstream_gene_variant MELA-AU 2 55191918 55191918 single base substitution T C intron_variant MELA-AU 2 55191918 55191918 single base substitution T C upstream_gene_variant MELA-AU 2 55192269 55192269 single base substitution G A downstream_gene_variant MELA-AU 2 55192269 55192269 single base substitution G A intron_variant MELA-AU 2 55192269 55192269 single base substitution G A upstream_gene_variant MELA-AU 2 55192270 55192270 single base substitution G A downstream_gene_variant MELA-AU 2 55192270 55192270 single base substitution G A intron_variant MELA-AU 2 55192270 55192270 single base substitution G A upstream_gene_variant MELA-AU 2 55192866 55192866 single base substitution G A intron_variant MELA-AU 2 55192866 55192866 single base substitution G A upstream_gene_variant MELA-AU 2 55193783 55193783 single base substitution G A intron_variant MELA-AU 2 55193783 55193783 single base substitution G A upstream_gene_variant MELA-AU 2 55193841 55193841 single base substitution T A intron_variant MELA-AU 2 55193841 55193841 single base substitution T A upstream_gene_variant MELA-AU 2 55194062 55194062 single base substitution G A intron_variant MELA-AU 2 55194062 55194062 single base substitution G A upstream_gene_variant MELA-AU 2 55194444 55194444 single base substitution G A intron_variant MELA-AU 2 55194444 55194444 single base substitution G A upstream_gene_variant MELA-AU 2 55194598 55194598 single base substitution G A intron_variant MELA-AU 2 55194598 55194598 single base substitution G A upstream_gene_variant MELA-AU 2 55196171 55196171 single base substitution G A downstream_gene_variant MELA-AU 2 55196171 55196171 single base substitution G A intron_variant MELA-AU 2 55196171 55196171 single base substitution G A upstream_gene_variant MELA-AU 2 55196324 55196324 single base substitution C A downstream_gene_variant MELA-AU 2 55196324 55196324 single base substitution C A intron_variant MELA-AU 2 55196324 55196324 single base substitution C A upstream_gene_variant MELA-AU 2 55197020 55197020 single base substitution A C downstream_gene_variant MELA-AU 2 55197020 55197020 single base substitution A C intron_variant MELA-AU 2 55197020 55197020 single base substitution A C upstream_gene_variant MELA-AU 2 55197164 55197164 single base substitution G A downstream_gene_variant MELA-AU 2 55197164 55197164 single base substitution G A intron_variant MELA-AU 2 55197164 55197164 single base substitution G A upstream_gene_variant MELA-AU 2 55197219 55197219 single base substitution G A downstream_gene_variant MELA-AU 2 55197219 55197219 single base substitution G A exon_variant MELA-AU 2 55197219 55197219 single base substitution G A stop_gained W1955* 5865G>A MELA-AU 2 55197219 55197219 single base substitution G A upstream_gene_variant MELA-AU 2 55197762 55197762 single base substitution G A 3_prime_UTR_variant MELA-AU 2 55197762 55197762 single base substitution G A downstream_gene_variant MELA-AU 2 55197762 55197762 single base substitution G A exon_variant MELA-AU 2 55197762 55197762 single base substitution G A upstream_gene_variant MELA-AU 2 55198023 55198023 single base substitution G A 3_prime_UTR_variant MELA-AU 2 55198023 55198023 single base substitution G A downstream_gene_variant MELA-AU 2 55198023 55198023 single base substitution G A exon_variant MELA-AU 2 55198023 55198023 single base substitution G A intron_variant MELA-AU 2 55198053 55198053 single base substitution G A 3_prime_UTR_variant MELA-AU 2 55198053 55198053 single base substitution G A downstream_gene_variant MELA-AU 2 55198053 55198053 single base substitution G A exon_variant MELA-AU 2 55198053 55198053 single base substitution G A intron_variant MELA-AU 2 55198510 55198510 single base substitution G A 3_prime_UTR_variant MELA-AU 2 55198510 55198510 single base substitution G A downstream_gene_variant MELA-AU 2 55198510 55198510 single base substitution G A intron_variant MELA-AU 2 55199015 55199015 single base substitution T C 3_prime_UTR_variant MELA-AU 2 55199015 55199015 single base substitution T C downstream_gene_variant MELA-AU 2 55199015 55199015 single base substitution T C exon_variant MELA-AU 2 55200046 55200049 deletion of <=200bp TAGG - downstream_gene_variant MELA-AU 2 55200844 55200846 deletion of <=200bp CAT - downstream_gene_variant MELA-AU 2 55200912 55200912 single base substitution G C downstream_gene_variant MELA-AU 2 55201006 55201006 single base substitution G A downstream_gene_variant MELA-AU 2 55201246 55201246 single base substitution G A downstream_gene_variant MELA-AU 2 55201464 55201464 single base substitution G A downstream_gene_variant MELA-AU 2 55201999 55202000 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 2 55202360 55202360 single base substitution G A downstream_gene_variant MELA-AU 2 55204115 55204115 single base substitution G A downstream_gene_variant ORCA-IN 2 54952243 54952243 single base substitution G T downstream_gene_variant ORCA-IN 2 54952243 54952243 single base substitution G T intron_variant ORCA-IN 2 54952243 54952243 single base substitution G T missense_variant W15C 45G>T ORCA-IN 2 54960200 54960200 single base substitution A G intron_variant ORCA-IN 2 54965022 54965022 single base substitution C A intron_variant ORCA-IN 2 54987343 54987343 deletion of <=200bp C - intron_variant ORCA-IN 2 54988083 54988083 single base substitution A G intron_variant ORCA-IN 2 54997549 54997549 single base substitution A C intron_variant ORCA-IN 2 54998361 54998361 single base substitution C T intron_variant ORCA-IN 2 55027507 55027507 single base substitution G T intron_variant ORCA-IN 2 55029764 55029764 single base substitution C A intron_variant ORCA-IN 2 55029811 55029811 single base substitution A G intron_variant ORCA-IN 2 55071347 55071347 single base substitution G T missense_variant K337N 1011G>T ORCA-IN 2 55084674 55084674 single base substitution C T intron_variant ORCA-IN 2 55086704 55086704 single base substitution C T exon_variant ORCA-IN 2 55086704 55086704 single base substitution C T missense_variant A564V 1691C>T ORCA-IN 2 55104964 55104964 single base substitution G A intron_variant ORCA-IN 2 55106686 55106686 single base substitution G A missense_variant D783N 2347G>A ORCA-IN 2 55106686 55106686 single base substitution G A splice_region_variant ORCA-IN 2 55116936 55116936 single base substitution C T intron_variant ORCA-IN 2 55118289 55118289 single base substitution C A missense_variant A846E 2537C>A ORCA-IN 2 55121326 55121326 single base substitution C G intron_variant ORCA-IN 2 55130543 55130543 single base substitution A G missense_variant N1105D 3313A>G ORCA-IN 2 55133166 55133166 single base substitution T A intron_variant ORCA-IN 2 55141701 55141701 single base substitution T G intron_variant ORCA-IN 2 55150508 55150508 single base substitution A G intron_variant ORCA-IN 2 55156863 55156863 single base substitution C T intron_variant ORCA-IN 2 55165249 55165249 single base substitution G T intron_variant ORCA-IN 2 55179777 55179777 single base substitution C T exon_variant ORCA-IN 2 55179777 55179777 single base substitution C T synonymous_variant L1420L 4260C>T ORCA-IN 2 55179777 55179777 single base substitution C T upstream_gene_variant ORCA-IN 2 55181132 55181132 single base substitution C A exon_variant ORCA-IN 2 55181132 55181132 single base substitution C A missense_variant S1442Y 4325C>A ORCA-IN 2 55181132 55181132 single base substitution C A upstream_gene_variant ORCA-IN 2 55189394 55189394 single base substitution T C downstream_gene_variant ORCA-IN 2 55189394 55189394 single base substitution T C intron_variant ORCA-IN 2 55189394 55189394 single base substitution T C upstream_gene_variant ORCA-IN 2 55200968 55200968 single base substitution C G downstream_gene_variant OV-AU 2 54945643 54945643 single base substitution A T upstream_gene_variant OV-AU 2 54946118 54946118 single base substitution T A upstream_gene_variant OV-AU 2 54950733 54950733 single base substitution G T exon_variant OV-AU 2 54950733 54950733 single base substitution G T upstream_gene_variant OV-AU 2 54961203 54961203 single base substitution C T intron_variant OV-AU 2 54962622 54962622 single base substitution C T intron_variant OV-AU 2 54966410 54966410 single base substitution T G intron_variant OV-AU 2 54968087 54968087 single base substitution T C intron_variant OV-AU 2 54972329 54972329 single base substitution G C intron_variant OV-AU 2 54972823 54972823 single base substitution A G intron_variant OV-AU 2 54972937 54972937 single base substitution G C intron_variant OV-AU 2 54979018 54979018 single base substitution G A intron_variant OV-AU 2 54979490 54979490 single base substitution T G intron_variant OV-AU 2 54980117 54980117 single base substitution G T intron_variant OV-AU 2 54985422 54985422 single base substitution C T intron_variant OV-AU 2 54986939 54986939 single base substitution C T intron_variant OV-AU 2 54997069 54997069 single base substitution A C intron_variant OV-AU 2 55002724 55002724 single base substitution A G intron_variant OV-AU 2 55002913 55002913 single base substitution C G intron_variant OV-AU 2 55009395 55009395 single base substitution C G intron_variant OV-AU 2 55009738 55009738 single base substitution G A intron_variant OV-AU 2 55010569 55010569 single base substitution T C intron_variant OV-AU 2 55017166 55017166 single base substitution A C intron_variant OV-AU 2 55021924 55021924 single base substitution G C intron_variant OV-AU 2 55022158 55022158 single base substitution G A intron_variant OV-AU 2 55025145 55025145 single base substitution G T intron_variant OV-AU 2 55033023 55033023 single base substitution C T intron_variant OV-AU 2 55033304 55033304 single base substitution G C intron_variant OV-AU 2 55033340 55033340 single base substitution G C intron_variant OV-AU 2 55033409 55033409 single base substitution G C intron_variant OV-AU 2 55033438 55033438 single base substitution G A intron_variant OV-AU 2 55033448 55033448 single base substitution G A intron_variant OV-AU 2 55038991 55038991 single base substitution G T intron_variant OV-AU 2 55043105 55043105 single base substitution T C intron_variant OV-AU 2 55047785 55047785 single base substitution G A downstream_gene_variant OV-AU 2 55047785 55047785 single base substitution G A intron_variant OV-AU 2 55050914 55050914 single base substitution T C intron_variant OV-AU 2 55053768 55053768 single base substitution C T intron_variant OV-AU 2 55062555 55062555 single base substitution G T intron_variant OV-AU 2 55065944 55065944 single base substitution T C intron_variant OV-AU 2 55066425 55066425 single base substitution T C intron_variant OV-AU 2 55068495 55068495 single base substitution C G intron_variant OV-AU 2 55070371 55070371 single base substitution C A intron_variant OV-AU 2 55070665 55070665 single base substitution A G intron_variant OV-AU 2 55077077 55077077 single base substitution G A intron_variant OV-AU 2 55077077 55077077 single base substitution G A upstream_gene_variant OV-AU 2 55080354 55080354 single base substitution A G intron_variant OV-AU 2 55080354 55080354 single base substitution A G upstream_gene_variant OV-AU 2 55082323 55082323 single base substitution G A intron_variant OV-AU 2 55083123 55083123 single base substitution G C intron_variant OV-AU 2 55083667 55083667 single base substitution G C intron_variant OV-AU 2 55086893 55086893 single base substitution A C intron_variant OV-AU 2 55092025 55092025 single base substitution G C intron_variant OV-AU 2 55093435 55093435 single base substitution G C intron_variant OV-AU 2 55094156 55094156 single base substitution C T exon_variant OV-AU 2 55094156 55094156 single base substitution C T intron_variant OV-AU 2 55094694 55094694 single base substitution A G exon_variant OV-AU 2 55094694 55094694 single base substitution A G intron_variant OV-AU 2 55100260 55100260 single base substitution C A intron_variant OV-AU 2 55101922 55101922 single base substitution A G intron_variant OV-AU 2 55110004 55110004 single base substitution A G exon_variant OV-AU 2 55110004 55110004 single base substitution A G intron_variant OV-AU 2 55111125 55111125 single base substitution A C downstream_gene_variant OV-AU 2 55111125 55111125 single base substitution A C intron_variant OV-AU 2 55113406 55113406 single base substitution G C downstream_gene_variant OV-AU 2 55113406 55113406 single base substitution G C intron_variant OV-AU 2 55115249 55115249 single base substitution C T intron_variant OV-AU 2 55118708 55118708 single base substitution G C intron_variant OV-AU 2 55118916 55118916 single base substitution A T intron_variant OV-AU 2 55119975 55119975 single base substitution T A intron_variant OV-AU 2 55139742 55139742 single base substitution C A intron_variant OV-AU 2 55144027 55144027 single base substitution C T synonymous_variant T1210T 3630C>T OV-AU 2 55145114 55145114 single base substitution T C intron_variant OV-AU 2 55152325 55152325 single base substitution A G intron_variant OV-AU 2 55156855 55156855 single base substitution C T intron_variant OV-AU 2 55166637 55166637 single base substitution A G intron_variant OV-AU 2 55168105 55168105 single base substitution C G intron_variant OV-AU 2 55168697 55168697 single base substitution A G intron_variant OV-AU 2 55171240 55171240 single base substitution C T intron_variant OV-AU 2 55171240 55171240 single base substitution C T upstream_gene_variant OV-AU 2 55171615 55171615 single base substitution C T intron_variant OV-AU 2 55171615 55171615 single base substitution C T upstream_gene_variant OV-AU 2 55172098 55172098 single base substitution C A intron_variant OV-AU 2 55172098 55172098 single base substitution C A upstream_gene_variant OV-AU 2 55173498 55173498 single base substitution C G intron_variant OV-AU 2 55173498 55173498 single base substitution C G upstream_gene_variant OV-AU 2 55174838 55174838 single base substitution G T intron_variant OV-AU 2 55174838 55174838 single base substitution G T upstream_gene_variant OV-AU 2 55177807 55177807 single base substitution G A exon_variant OV-AU 2 55177807 55177807 single base substitution G A synonymous_variant V1368V 4104G>A OV-AU 2 55177807 55177807 single base substitution G A upstream_gene_variant OV-AU 2 55182938 55182938 single base substitution C T intron_variant OV-AU 2 55189062 55189062 single base substitution C A downstream_gene_variant OV-AU 2 55189062 55189062 single base substitution C A intron_variant OV-AU 2 55189062 55189062 single base substitution C A upstream_gene_variant OV-AU 2 55191576 55191576 single base substitution G A downstream_gene_variant OV-AU 2 55191576 55191576 single base substitution G A intron_variant OV-AU 2 55191576 55191576 single base substitution G A upstream_gene_variant OV-AU 2 55192138 55192138 single base substitution A G downstream_gene_variant OV-AU 2 55192138 55192138 single base substitution A G intron_variant OV-AU 2 55192138 55192138 single base substitution A G upstream_gene_variant OV-AU 2 55195049 55195049 single base substitution G A intron_variant OV-AU 2 55195049 55195049 single base substitution G A upstream_gene_variant OV-AU 2 55199898 55199898 single base substitution A G downstream_gene_variant OV-AU 2 55201798 55201798 single base substitution C G downstream_gene_variant OV-AU 2 55201901 55201901 single base substitution C A downstream_gene_variant OV-AU 2 55202342 55202342 single base substitution C A downstream_gene_variant OV-AU 2 55203146 55203146 single base substitution G A downstream_gene_variant PACA-AU 2 54946559 54946559 single base substitution C T upstream_gene_variant PACA-AU 2 54948810 54948810 single base substitution C T upstream_gene_variant PACA-AU 2 54951880 54951880 single base substitution G C 5_prime_UTR_variant PACA-AU 2 54951880 54951880 single base substitution G C downstream_gene_variant PACA-AU 2 54951880 54951880 single base substitution G C intron_variant PACA-AU 2 54954431 54954431 single base substitution G A downstream_gene_variant PACA-AU 2 54954431 54954431 single base substitution G A intron_variant PACA-AU 2 54957724 54957724 single base substitution G A intron_variant PACA-AU 2 54958029 54958029 single base substitution G A intron_variant PACA-AU 2 54959378 54959378 single base substitution G A intron_variant PACA-AU 2 54963683 54963683 single base substitution G A intron_variant PACA-AU 2 54964406 54964406 single base substitution G A intron_variant PACA-AU 2 54964647 54964647 single base substitution G T intron_variant PACA-AU 2 54971638 54971640 deletion of <=200bp AAA - intron_variant PACA-AU 2 54972711 54972711 single base substitution C T intron_variant PACA-AU 2 54973867 54973867 single base substitution C T intron_variant PACA-AU 2 54975055 54975055 single base substitution A G intron_variant PACA-AU 2 54976277 54976277 single base substitution C T intron_variant PACA-AU 2 54977143 54977143 deletion of <=200bp T - intron_variant PACA-AU 2 54982800 54982800 single base substitution A T intron_variant PACA-AU 2 54984168 54984168 single base substitution A T intron_variant PACA-AU 2 54984581 54984581 single base substitution G C intron_variant PACA-AU 2 54987982 54987982 single base substitution T A intron_variant PACA-AU 2 54990428 54990428 single base substitution T G intron_variant PACA-AU 2 55002138 55002138 single base substitution A C intron_variant PACA-AU 2 55005921 55005921 single base substitution C T intron_variant PACA-AU 2 55007756 55007756 single base substitution T C intron_variant PACA-AU 2 55009991 55009991 single base substitution C T intron_variant PACA-AU 2 55010829 55010829 single base substitution A T intron_variant PACA-AU 2 55020630 55020643 deletion of <=200bp GCAATTCAAGGAAG - intron_variant PACA-AU 2 55023635 55023635 single base substitution T G intron_variant PACA-AU 2 55030798 55030798 single base substitution G A intron_variant PACA-AU 2 55033418 55033418 single base substitution C A intron_variant PACA-AU 2 55038620 55038620 single base substitution C A intron_variant PACA-AU 2 55043260 55043260 single base substitution C G intron_variant PACA-AU 2 55044857 55044857 single base substitution C T downstream_gene_variant PACA-AU 2 55044857 55044857 single base substitution C T intron_variant PACA-AU 2 55046071 55046071 single base substitution C T downstream_gene_variant PACA-AU 2 55046071 55046071 single base substitution C T intron_variant PACA-AU 2 55046528 55046528 single base substitution A G downstream_gene_variant PACA-AU 2 55046528 55046528 single base substitution A G intron_variant PACA-AU 2 55047620 55047620 single base substitution A G downstream_gene_variant PACA-AU 2 55047620 55047620 single base substitution A G intron_variant PACA-AU 2 55053429 55053429 deletion of <=200bp G - intron_variant PACA-AU 2 55054926 55054926 single base substitution C G intron_variant PACA-AU 2 55056330 55056330 single base substitution A G intron_variant PACA-AU 2 55058678 55058678 single base substitution G A intron_variant PACA-AU 2 55067804 55067804 single base substitution C T intron_variant PACA-AU 2 55070751 55070751 single base substitution G A intron_variant PACA-AU 2 55070896 55070896 single base substitution C T intron_variant PACA-AU 2 55072480 55072480 single base substitution T A intron_variant PACA-AU 2 55075637 55075637 single base substitution G A intron_variant PACA-AU 2 55076278 55076278 deletion of <=200bp A - intron_variant PACA-AU 2 55076278 55076278 deletion of <=200bp A - upstream_gene_variant PACA-AU 2 55078988 55078988 single base substitution A G intron_variant PACA-AU 2 55078988 55078988 single base substitution A G upstream_gene_variant PACA-AU 2 55081090 55081090 single base substitution G A intron_variant PACA-AU 2 55090976 55090976 single base substitution G A exon_variant PACA-AU 2 55090976 55090976 single base substitution G A missense_variant E628K 1882G>A PACA-AU 2 55093331 55093331 single base substitution T C intron_variant PACA-AU 2 55102210 55102210 single base substitution T A intron_variant PACA-AU 2 55104977 55104977 single base substitution G T intron_variant PACA-AU 2 55105013 55105013 single base substitution C A intron_variant PACA-AU 2 55105528 55105528 single base substitution G A intron_variant PACA-AU 2 55108991 55108991 single base substitution A G exon_variant PACA-AU 2 55108991 55108991 single base substitution A G intron_variant PACA-AU 2 55115196 55115196 single base substitution G A intron_variant PACA-AU 2 55115241 55115241 single base substitution C G intron_variant PACA-AU 2 55116613 55116613 single base substitution A C intron_variant PACA-AU 2 55121347 55121347 single base substitution A C intron_variant PACA-AU 2 55130004 55130004 single base substitution G T intron_variant PACA-AU 2 55142381 55142381 single base substitution A G intron_variant PACA-AU 2 55145179 55145179 single base substitution G A intron_variant PACA-AU 2 55153120 55153120 single base substitution G T intron_variant PACA-AU 2 55153899 55153899 single base substitution C T intron_variant PACA-AU 2 55161369 55161369 single base substitution C G intron_variant PACA-AU 2 55163460 55163460 single base substitution A C intron_variant PACA-AU 2 55164452 55164452 single base substitution T G intron_variant PACA-AU 2 55165351 55165351 single base substitution C T intron_variant PACA-AU 2 55174299 55174299 single base substitution G A intron_variant PACA-AU 2 55174299 55174299 single base substitution G A upstream_gene_variant PACA-AU 2 55174660 55174660 single base substitution C T intron_variant PACA-AU 2 55174660 55174660 single base substitution C T upstream_gene_variant PACA-AU 2 55176059 55176059 single base substitution C G exon_variant PACA-AU 2 55176059 55176059 single base substitution C G missense_variant Q1349E 4045C>G PACA-AU 2 55178152 55178152 single base substitution C T intron_variant PACA-AU 2 55178152 55178152 single base substitution C T upstream_gene_variant PACA-AU 2 55186082 55186082 single base substitution G T intron_variant PACA-AU 2 55191818 55191818 single base substitution C T downstream_gene_variant PACA-AU 2 55191818 55191818 single base substitution C T exon_variant PACA-AU 2 55191818 55191818 single base substitution C T synonymous_variant I1814I 5442C>T PACA-AU 2 55191818 55191818 single base substitution C T upstream_gene_variant PACA-AU 2 55192409 55192409 single base substitution G A intron_variant PACA-AU 2 55192409 55192409 single base substitution G A upstream_gene_variant PACA-AU 2 55195328 55195328 single base substitution G A exon_variant PACA-AU 2 55195328 55195328 single base substitution G A missense_variant A1888T 5662G>A PACA-AU 2 55195328 55195328 single base substitution G A upstream_gene_variant PACA-AU 2 55196591 55196591 single base substitution C T downstream_gene_variant PACA-AU 2 55196591 55196591 single base substitution C T intron_variant PACA-AU 2 55196591 55196591 single base substitution C T upstream_gene_variant PACA-AU 2 55197033 55197033 single base substitution G A downstream_gene_variant PACA-AU 2 55197033 55197033 single base substitution G A intron_variant PACA-AU 2 55197033 55197033 single base substitution G A upstream_gene_variant PACA-AU 2 55200961 55200961 single base substitution T C downstream_gene_variant PACA-AU 2 55202825 55202825 single base substitution A C downstream_gene_variant PACA-CA 2 54946914 54946914 single base substitution T G upstream_gene_variant PACA-CA 2 54948184 54948184 single base substitution T C upstream_gene_variant PACA-CA 2 54950520 54950520 single base substitution C A upstream_gene_variant PACA-CA 2 54952152 54952152 single base substitution C T 5_prime_UTR_premature_start_codon_gain_variant PACA-CA 2 54952152 54952152 single base substitution C T downstream_gene_variant PACA-CA 2 54952152 54952152 single base substitution C T intron_variant PACA-CA 2 54954517 54954517 single base substitution C A downstream_gene_variant PACA-CA 2 54954517 54954517 single base substitution C A intron_variant PACA-CA 2 54956914 54956914 single base substitution G A intron_variant PACA-CA 2 54959266 54959266 single base substitution C G intron_variant PACA-CA 2 54959973 54959973 single base substitution G A intron_variant PACA-CA 2 54961390 54961390 single base substitution G A intron_variant PACA-CA 2 54962252 54962252 single base substitution C T intron_variant PACA-CA 2 54967858 54967858 insertion of <=200bp - C intron_variant PACA-CA 2 54974442 54974442 single base substitution G A intron_variant PACA-CA 2 54977087 54977094 deletion of <=200bp ACTGAAAA - intron_variant PACA-CA 2 54983750 54983750 single base substitution T G intron_variant PACA-CA 2 54983793 54983793 insertion of <=200bp - T intron_variant PACA-CA 2 54988596 54988596 single base substitution C A intron_variant PACA-CA 2 54995123 54995123 single base substitution A G intron_variant PACA-CA 2 54998723 54998723 single base substitution G C intron_variant PACA-CA 2 55005211 55005211 insertion of <=200bp - T intron_variant PACA-CA 2 55005427 55005427 single base substitution G A intron_variant PACA-CA 2 55006598 55006598 single base substitution G A intron_variant PACA-CA 2 55008508 55008508 single base substitution C T intron_variant PACA-CA 2 55011694 55011694 single base substitution G A intron_variant PACA-CA 2 55011840 55011840 single base substitution T A intron_variant PACA-CA 2 55017778 55017778 single base substitution A G intron_variant PACA-CA 2 55019153 55019153 single base substitution C T intron_variant PACA-CA 2 55020047 55020047 insertion of <=200bp - A intron_variant PACA-CA 2 55021454 55021454 single base substitution C T intron_variant PACA-CA 2 55021484 55021484 single base substitution C A intron_variant PACA-CA 2 55021573 55021573 single base substitution C T intron_variant PACA-CA 2 55022818 55022818 single base substitution G A intron_variant PACA-CA 2 55023580 55023580 deletion of <=200bp T - intron_variant PACA-CA 2 55023866 55023866 single base substitution G A intron_variant PACA-CA 2 55025595 55025595 single base substitution C T intron_variant PACA-CA 2 55027465 55027465 single base substitution C T intron_variant PACA-CA 2 55030797 55030797 single base substitution C T intron_variant PACA-CA 2 55034530 55034530 single base substitution T A intron_variant PACA-CA 2 55035581 55035581 single base substitution A C intron_variant PACA-CA 2 55035659 55035659 single base substitution C T intron_variant PACA-CA 2 55036371 55036371 single base substitution A G intron_variant PACA-CA 2 55037242 55037242 single base substitution G T intron_variant PACA-CA 2 55037839 55037839 single base substitution G C intron_variant PACA-CA 2 55038986 55038986 single base substitution C T intron_variant PACA-CA 2 55040360 55040360 single base substitution C T intron_variant PACA-CA 2 55040427 55040427 single base substitution T C exon_variant PACA-CA 2 55040427 55040427 single base substitution T C missense_variant Y86H 256T>C PACA-CA 2 55042353 55042353 single base substitution C T intron_variant PACA-CA 2 55045499 55045499 single base substitution G A downstream_gene_variant PACA-CA 2 55045499 55045499 single base substitution G A intron_variant PACA-CA 2 55045904 55045904 single base substitution C T downstream_gene_variant PACA-CA 2 55045904 55045904 single base substitution C T intron_variant PACA-CA 2 55046175 55046175 single base substitution G A downstream_gene_variant PACA-CA 2 55046175 55046175 single base substitution G A intron_variant PACA-CA 2 55053804 55053804 single base substitution C A intron_variant PACA-CA 2 55060921 55060921 single base substitution A G intron_variant PACA-CA 2 55063216 55063216 single base substitution C A intron_variant PACA-CA 2 55063424 55063424 single base substitution C T intron_variant PACA-CA 2 55065519 55065519 single base substitution T A intron_variant PACA-CA 2 55068449 55068449 single base substitution G A intron_variant PACA-CA 2 55074704 55074704 single base substitution C T synonymous_variant D377D 1131C>T PACA-CA 2 55076434 55076434 single base substitution G T intron_variant PACA-CA 2 55076434 55076434 single base substitution G T upstream_gene_variant PACA-CA 2 55076517 55076517 single base substitution A T intron_variant PACA-CA 2 55076517 55076517 single base substitution A T upstream_gene_variant PACA-CA 2 55079712 55079712 single base substitution T A intron_variant PACA-CA 2 55079712 55079712 single base substitution T A upstream_gene_variant PACA-CA 2 55080628 55080628 insertion of <=200bp - A intron_variant PACA-CA 2 55080628 55080628 insertion of <=200bp - A upstream_gene_variant PACA-CA 2 55080881 55080881 single base substitution A C missense_variant T516P 1546A>C PACA-CA 2 55080881 55080881 single base substitution A C upstream_gene_variant PACA-CA 2 55083686 55083686 single base substitution G A intron_variant PACA-CA 2 55086135 55086135 single base substitution T A intron_variant PACA-CA 2 55096702 55096702 single base substitution G T intron_variant PACA-CA 2 55097140 55097140 single base substitution C G intron_variant PACA-CA 2 55098771 55098771 single base substitution T G intron_variant PACA-CA 2 55099303 55099303 single base substitution T C intron_variant PACA-CA 2 55100263 55100263 single base substitution G C intron_variant PACA-CA 2 55104597 55104597 deletion of <=200bp A - intron_variant PACA-CA 2 55104688 55104688 single base substitution A G intron_variant PACA-CA 2 55106718 55106718 single base substitution C T exon_variant PACA-CA 2 55106718 55106718 single base substitution C T synonymous_variant D793D 2379C>T PACA-CA 2 55112598 55112598 single base substitution T A downstream_gene_variant PACA-CA 2 55112598 55112598 single base substitution T A intron_variant PACA-CA 2 55113531 55113531 single base substitution T C downstream_gene_variant PACA-CA 2 55113531 55113531 single base substitution T C intron_variant PACA-CA 2 55116324 55116324 single base substitution A T intron_variant PACA-CA 2 55117288 55117288 insertion of <=200bp - T intron_variant PACA-CA 2 55117565 55117565 single base substitution G C intron_variant PACA-CA 2 55123832 55123832 single base substitution T A intron_variant PACA-CA 2 55126342 55126342 single base substitution A G intron_variant PACA-CA 2 55132806 55132806 single base substitution A G intron_variant PACA-CA 2 55136006 55136006 single base substitution G A intron_variant PACA-CA 2 55140999 55140999 single base substitution G A intron_variant PACA-CA 2 55143787 55143787 single base substitution A G intron_variant PACA-CA 2 55144327 55144327 single base substitution T C intron_variant PACA-CA 2 55144953 55144953 single base substitution A C intron_variant PACA-CA 2 55145311 55145311 single base substitution G A intron_variant PACA-CA 2 55148362 55148362 deletion of <=200bp A - intron_variant PACA-CA 2 55151690 55151690 single base substitution T A intron_variant PACA-CA 2 55151691 55151691 single base substitution T A intron_variant PACA-CA 2 55160522 55160522 single base substitution A T intron_variant PACA-CA 2 55166734 55166734 single base substitution T C intron_variant PACA-CA 2 55167587 55167587 single base substitution G A intron_variant PACA-CA 2 55169111 55169111 single base substitution C A intron_variant PACA-CA 2 55171752 55171752 single base substitution C A intron_variant PACA-CA 2 55171752 55171752 single base substitution C A upstream_gene_variant PACA-CA 2 55174419 55174419 single base substitution C A intron_variant PACA-CA 2 55174419 55174419 single base substitution C A upstream_gene_variant PACA-CA 2 55175350 55175350 single base substitution C T intron_variant PACA-CA 2 55175350 55175350 single base substitution C T upstream_gene_variant PACA-CA 2 55177432 55177432 single base substitution G A intron_variant PACA-CA 2 55177432 55177432 single base substitution G A upstream_gene_variant PACA-CA 2 55183782 55183782 single base substitution C T intron_variant PACA-CA 2 55188488 55188488 deletion of <=200bp T - downstream_gene_variant PACA-CA 2 55188488 55188488 deletion of <=200bp T - intron_variant PACA-CA 2 55188488 55188488 deletion of <=200bp T - upstream_gene_variant PACA-CA 2 55190027 55190027 single base substitution T C downstream_gene_variant PACA-CA 2 55190027 55190027 single base substitution T C intron_variant PACA-CA 2 55190027 55190027 single base substitution T C upstream_gene_variant PACA-CA 2 55190726 55190726 single base substitution T C downstream_gene_variant PACA-CA 2 55190726 55190726 single base substitution T C intron_variant PACA-CA 2 55190726 55190726 single base substitution T C upstream_gene_variant PACA-CA 2 55196167 55196167 single base substitution T C downstream_gene_variant PACA-CA 2 55196167 55196167 single base substitution T C intron_variant PACA-CA 2 55196167 55196167 single base substitution T C upstream_gene_variant PACA-CA 2 55197338 55197338 single base substitution T C 3_prime_UTR_variant PACA-CA 2 55197338 55197338 single base substitution T C downstream_gene_variant PACA-CA 2 55197338 55197338 single base substitution T C exon_variant PACA-CA 2 55197338 55197338 single base substitution T C upstream_gene_variant PAEN-AU 2 54969622 54969622 single base substitution C T intron_variant PAEN-AU 2 54972042 54972042 single base substitution T C intron_variant PAEN-AU 2 55006426 55006426 single base substitution A C intron_variant PAEN-AU 2 55017979 55017979 single base substitution C A intron_variant PAEN-AU 2 55019361 55019361 single base substitution C A intron_variant PAEN-AU 2 55029814 55029814 single base substitution A G intron_variant PAEN-AU 2 55041271 55041271 single base substitution C T intron_variant PAEN-AU 2 55050986 55050986 single base substitution A T intron_variant PAEN-AU 2 55074060 55074060 single base substitution A T intron_variant PAEN-AU 2 55092352 55092352 single base substitution A C intron_variant PAEN-AU 2 55096276 55096276 single base substitution T A exon_variant PAEN-AU 2 55096276 55096276 single base substitution T A intron_variant PAEN-AU 2 55146423 55146423 single base substitution T A intron_variant PAEN-AU 2 55177288 55177288 single base substitution G A intron_variant PAEN-AU 2 55177288 55177288 single base substitution G A upstream_gene_variant PAEN-IT 2 55012735 55012735 single base substitution C A intron_variant PAEN-IT 2 55029814 55029814 single base substitution A G intron_variant PAEN-IT 2 55042055 55042055 single base substitution A T intron_variant PAEN-IT 2 55054759 55054759 single base substitution A G synonymous_variant T194T 582A>G PAEN-IT 2 55084364 55084364 single base substitution G A intron_variant PAEN-IT 2 55142905 55142905 single base substitution C T intron_variant PAEN-IT 2 55143086 55143086 single base substitution A G intron_variant PAEN-IT 2 55189810 55189810 single base substitution A G downstream_gene_variant PAEN-IT 2 55189810 55189810 single base substitution A G exon_variant PAEN-IT 2 55189810 55189810 single base substitution A G missense_variant N1707S 5120A>G PAEN-IT 2 55189810 55189810 single base substitution A G upstream_gene_variant PAEN-IT 2 55202309 55202309 single base substitution C A downstream_gene_variant PBCA-DE 2 54948323 54948323 single base substitution C A upstream_gene_variant PBCA-DE 2 54950510 54950510 single base substitution G C upstream_gene_variant PBCA-DE 2 54951888 54951888 single base substitution C A 5_prime_UTR_variant PBCA-DE 2 54951888 54951888 single base substitution C A downstream_gene_variant PBCA-DE 2 54951888 54951888 single base substitution C A intron_variant PBCA-DE 2 54953754 54953754 single base substitution A G downstream_gene_variant PBCA-DE 2 54953754 54953754 single base substitution A G intron_variant PBCA-DE 2 54968592 54968593 deletion of <=200bp CA - intron_variant PBCA-DE 2 54969345 54969345 single base substitution C T intron_variant PBCA-DE 2 54972041 54972042 deletion of <=200bp GT - intron_variant PBCA-DE 2 54982181 54982181 single base substitution G A intron_variant PBCA-DE 2 54986049 54986049 single base substitution T C intron_variant PBCA-DE 2 54987007 54987008 deletion of <=200bp AT - intron_variant PBCA-DE 2 55005724 55005724 single base substitution T A intron_variant PBCA-DE 2 55013072 55013073 deletion of <=200bp AT - intron_variant PBCA-DE 2 55024229 55024229 single base substitution G A intron_variant PBCA-DE 2 55029756 55029758 deletion of <=200bp TAC - intron_variant PBCA-DE 2 55029793 55029793 single base substitution A G intron_variant PBCA-DE 2 55033905 55033905 single base substitution G T intron_variant PBCA-DE 2 55037458 55037458 single base substitution G A intron_variant PBCA-DE 2 55039058 55039058 single base substitution A G intron_variant PBCA-DE 2 55040839 55040839 single base substitution C A intron_variant PBCA-DE 2 55040879 55040879 single base substitution G A intron_variant PBCA-DE 2 55054766 55054766 single base substitution C A missense_variant L197I 589C>A PBCA-DE 2 55059880 55059880 insertion of <=200bp - C intron_variant PBCA-DE 2 55069072 55069072 single base substitution T A intron_variant PBCA-DE 2 55069074 55069074 single base substitution A G intron_variant PBCA-DE 2 55069075 55069075 single base substitution G A intron_variant PBCA-DE 2 55070204 55070204 single base substitution G A intron_variant PBCA-DE 2 55079075 55079075 single base substitution T C intron_variant PBCA-DE 2 55079075 55079075 single base substitution T C upstream_gene_variant PBCA-DE 2 55088620 55088620 single base substitution G A intron_variant PBCA-DE 2 55096160 55096160 single base substitution G A exon_variant PBCA-DE 2 55096160 55096160 single base substitution G A intron_variant PBCA-DE 2 55108120 55108120 insertion of <=200bp - AGTAAC exon_variant PBCA-DE 2 55108120 55108120 insertion of <=200bp - AGTAAC intron_variant PBCA-DE 2 55108132 55108132 deletion of <=200bp G - exon_variant PBCA-DE 2 55108132 55108132 deletion of <=200bp G - intron_variant PBCA-DE 2 55124179 55124179 insertion of <=200bp - T intron_variant PBCA-DE 2 55126122 55126122 single base substitution C T intron_variant PBCA-DE 2 55128298 55128298 single base substitution A T intron_variant PBCA-DE 2 55136413 55136413 single base substitution G A intron_variant PBCA-DE 2 55154696 55154696 single base substitution G A intron_variant PBCA-DE 2 55170712 55170712 single base substitution C T intron_variant PBCA-DE 2 55183156 55183157 deletion of <=200bp GT - intron_variant PBCA-DE 2 55186078 55186078 single base substitution C T intron_variant PBCA-DE 2 55194978 55194978 single base substitution G A intron_variant PBCA-DE 2 55194978 55194978 single base substitution G A upstream_gene_variant PRAD-CA 2 54951010 54951010 single base substitution C A intron_variant PRAD-CA 2 54951010 54951010 single base substitution C A upstream_gene_variant PRAD-CA 2 54956161 54956161 single base substitution G A downstream_gene_variant PRAD-CA 2 54956161 54956161 single base substitution G A intron_variant PRAD-CA 2 54983169 54983169 single base substitution G T intron_variant PRAD-CA 2 55006863 55006863 single base substitution G C intron_variant PRAD-CA 2 55015390 55015390 single base substitution G T intron_variant PRAD-CA 2 55055863 55055863 single base substitution T C intron_variant PRAD-CA 2 55057704 55057704 single base substitution G A intron_variant PRAD-CA 2 55089985 55089985 single base substitution G A intron_variant PRAD-CA 2 55113954 55113954 single base substitution G C downstream_gene_variant PRAD-CA 2 55113954 55113954 single base substitution G C intron_variant PRAD-CA 2 55116357 55116357 single base substitution A G intron_variant PRAD-CA 2 55151691 55151691 single base substitution T A intron_variant PRAD-CA 2 55157674 55157674 single base substitution G A intron_variant PRAD-CA 2 55166246 55166246 single base substitution T G intron_variant PRAD-UK 2 54960512 54960512 single base substitution T G intron_variant PRAD-UK 2 54977084 54977084 single base substitution C T intron_variant PRAD-UK 2 54984581 54984581 single base substitution G T intron_variant PRAD-UK 2 54993065 54993065 single base substitution C T intron_variant PRAD-UK 2 55023641 55023641 insertion of <=200bp - T intron_variant PRAD-UK 2 55043206 55043206 single base substitution A C intron_variant PRAD-UK 2 55044755 55044755 single base substitution T A downstream_gene_variant PRAD-UK 2 55044755 55044755 single base substitution T A intron_variant PRAD-UK 2 55045457 55045457 single base substitution C A downstream_gene_variant PRAD-UK 2 55045457 55045457 single base substitution C A intron_variant PRAD-UK 2 55067930 55067930 single base substitution C T intron_variant PRAD-UK 2 55077515 55077515 single base substitution T C intron_variant PRAD-UK 2 55077515 55077515 single base substitution T C upstream_gene_variant PRAD-UK 2 55078782 55078782 single base substitution G T intron_variant PRAD-UK 2 55078782 55078782 single base substitution G T upstream_gene_variant PRAD-UK 2 55079183 55079183 single base substitution A G intron_variant PRAD-UK 2 55079183 55079183 single base substitution A G upstream_gene_variant PRAD-UK 2 55089200 55089200 single base substitution C A intron_variant PRAD-UK 2 55093173 55093173 single base substitution C G intron_variant PRAD-UK 2 55094667 55094667 single base substitution G T exon_variant PRAD-UK 2 55094667 55094667 single base substitution G T intron_variant PRAD-UK 2 55097323 55097323 single base substitution G A intron_variant PRAD-UK 2 55102715 55102715 single base substitution A G intron_variant PRAD-UK 2 55128019 55128019 single base substitution T C intron_variant PRAD-UK 2 55144028 55144028 single base substitution G A missense_variant G1211R 3631G>A PRAD-UK 2 55168070 55168070 single base substitution T G intron_variant PRAD-UK 2 55197757 55197757 single base substitution T C 3_prime_UTR_variant PRAD-UK 2 55197757 55197757 single base substitution T C downstream_gene_variant PRAD-UK 2 55197757 55197757 single base substitution T C exon_variant PRAD-UK 2 55197757 55197757 single base substitution T C upstream_gene_variant PRAD-UK 2 55198779 55198779 single base substitution C G 3_prime_UTR_variant PRAD-UK 2 55198779 55198779 single base substitution C G downstream_gene_variant PRAD-UK 2 55198779 55198779 single base substitution C G intron_variant READ-US 2 55056487 55056487 single base substitution C A synonymous_variant I240I 720C>A READ-US 2 55071369 55071369 single base substitution G A missense_variant D345N 1033G>A READ-US 2 55077127 55077127 single base substitution G T missense_variant D406Y 1216G>T READ-US 2 55077127 55077127 single base substitution G T upstream_gene_variant READ-US 2 55086775 55086775 single base substitution G A exon_variant READ-US 2 55086775 55086775 single base substitution G A missense_variant V588I 1762G>A READ-US 2 55090984 55090984 single base substitution C A exon_variant READ-US 2 55090984 55090984 single base substitution C A missense_variant D630E 1890C>A READ-US 2 55122439 55122439 single base substitution C T missense_variant R962C 2884C>T READ-US 2 55191182 55191182 single base substitution G A downstream_gene_variant READ-US 2 55191182 55191182 single base substitution G A exon_variant READ-US 2 55191182 55191182 single base substitution G A missense_variant G1740R 5218G>A READ-US 2 55191182 55191182 single base substitution G A upstream_gene_variant READ-US 2 55191215 55191215 single base substitution G A downstream_gene_variant READ-US 2 55191215 55191215 single base substitution G A exon_variant READ-US 2 55191215 55191215 single base substitution G A missense_variant E1751K 5251G>A READ-US 2 55191215 55191215 single base substitution G A upstream_gene_variant RECA-EU 2 54951301 54951301 single base substitution A G intron_variant RECA-EU 2 54951301 54951301 single base substitution A G upstream_gene_variant RECA-EU 2 54951641 54951641 single base substitution G A intron_variant RECA-EU 2 54951641 54951641 single base substitution G A upstream_gene_variant RECA-EU 2 54964441 54964441 single base substitution T G intron_variant RECA-EU 2 54969932 54969932 single base substitution G A intron_variant RECA-EU 2 54987745 54987745 single base substitution G A intron_variant RECA-EU 2 54988986 54988986 single base substitution A C intron_variant RECA-EU 2 54989649 54989649 single base substitution G A intron_variant RECA-EU 2 55001100 55001100 single base substitution C T intron_variant RECA-EU 2 55013344 55013344 single base substitution C G intron_variant RECA-EU 2 55014071 55014071 single base substitution G T intron_variant RECA-EU 2 55017785 55017785 single base substitution C T intron_variant RECA-EU 2 55023039 55023039 single base substitution T C intron_variant RECA-EU 2 55024172 55024172 single base substitution G T intron_variant RECA-EU 2 55029802 55029802 single base substitution A G intron_variant RECA-EU 2 55029805 55029805 single base substitution G A intron_variant RECA-EU 2 55033085 55033085 single base substitution G C intron_variant RECA-EU 2 55042085 55042085 single base substitution T A intron_variant RECA-EU 2 55042128 55042128 single base substitution T G intron_variant RECA-EU 2 55062886 55062886 single base substitution G T intron_variant RECA-EU 2 55068429 55068429 single base substitution G A intron_variant RECA-EU 2 55071823 55071823 single base substitution G C intron_variant RECA-EU 2 55074321 55074321 single base substitution A T intron_variant RECA-EU 2 55081688 55081688 single base substitution A T intron_variant RECA-EU 2 55084686 55084686 single base substitution T C intron_variant RECA-EU 2 55090251 55090251 single base substitution A C intron_variant RECA-EU 2 55092987 55092987 single base substitution A G intron_variant RECA-EU 2 55098388 55098388 single base substitution C A intron_variant RECA-EU 2 55105048 55105048 single base substitution G A intron_variant RECA-EU 2 55105401 55105401 single base substitution A T intron_variant RECA-EU 2 55110768 55110768 single base substitution G T downstream_gene_variant RECA-EU 2 55110768 55110768 single base substitution G T intron_variant RECA-EU 2 55115449 55115449 single base substitution T G intron_variant RECA-EU 2 55116889 55116889 single base substitution G T intron_variant RECA-EU 2 55122028 55122028 single base substitution T A intron_variant RECA-EU 2 55122030 55122030 single base substitution C G intron_variant RECA-EU 2 55128200 55128200 single base substitution G T intron_variant RECA-EU 2 55142452 55142452 single base substitution A G intron_variant RECA-EU 2 55146835 55146835 single base substitution G A intron_variant RECA-EU 2 55153978 55153978 single base substitution T A intron_variant RECA-EU 2 55169979 55169979 single base substitution A T intron_variant RECA-EU 2 55172867 55172867 single base substitution G C intron_variant RECA-EU 2 55172867 55172867 single base substitution G C upstream_gene_variant RECA-EU 2 55178029 55178029 single base substitution C A intron_variant RECA-EU 2 55178029 55178029 single base substitution C A upstream_gene_variant RECA-EU 2 55184307 55184307 single base substitution A C intron_variant RECA-EU 2 55188323 55188323 single base substitution T G downstream_gene_variant RECA-EU 2 55188323 55188323 single base substitution T G intron_variant RECA-EU 2 55188323 55188323 single base substitution T G upstream_gene_variant RECA-EU 2 55188333 55188333 single base substitution T G downstream_gene_variant RECA-EU 2 55188333 55188333 single base substitution T G intron_variant RECA-EU 2 55188333 55188333 single base substitution T G upstream_gene_variant RECA-EU 2 55197749 55197749 single base substitution G T 3_prime_UTR_variant RECA-EU 2 55197749 55197749 single base substitution G T downstream_gene_variant RECA-EU 2 55197749 55197749 single base substitution G T exon_variant RECA-EU 2 55197749 55197749 single base substitution G T upstream_gene_variant RECA-EU 2 55200920 55200920 single base substitution G A downstream_gene_variant SKCA-BR 2 54947320 54947320 single base substitution C T upstream_gene_variant SKCA-BR 2 54947332 54947332 single base substitution G A upstream_gene_variant SKCA-BR 2 54947738 54947738 single base substitution G A upstream_gene_variant SKCA-BR 2 54951886 54951886 single base substitution C T 5_prime_UTR_variant SKCA-BR 2 54951886 54951886 single base substitution C T downstream_gene_variant SKCA-BR 2 54951886 54951886 single base substitution C T intron_variant SKCA-BR 2 54955422 54955422 single base substitution G A downstream_gene_variant SKCA-BR 2 54955422 54955422 single base substitution G A intron_variant SKCA-BR 2 54960327 54960327 single base substitution C A intron_variant SKCA-BR 2 54961429 54961429 single base substitution C T intron_variant SKCA-BR 2 54961618 54961618 single base substitution T A intron_variant SKCA-BR 2 54963041 54963041 single base substitution G A intron_variant SKCA-BR 2 54963506 54963506 single base substitution G T intron_variant SKCA-BR 2 54965257 54965257 single base substitution C T intron_variant SKCA-BR 2 54968937 54968937 single base substitution C T intron_variant SKCA-BR 2 54972840 54972840 single base substitution C T intron_variant SKCA-BR 2 54973945 54973945 single base substitution A T intron_variant SKCA-BR 2 54974722 54974722 single base substitution G A intron_variant SKCA-BR 2 54978998 54978998 single base substitution G A intron_variant SKCA-BR 2 54979678 54979678 single base substitution A T intron_variant SKCA-BR 2 54980568 54980568 single base substitution G C intron_variant SKCA-BR 2 54981320 54981320 single base substitution C T intron_variant SKCA-BR 2 54981851 54981851 single base substitution G A intron_variant SKCA-BR 2 54984592 54984592 single base substitution C T intron_variant SKCA-BR 2 54985271 54985271 single base substitution G A intron_variant SKCA-BR 2 54986050 54986050 insertion of <=200bp - GGGTGGTTCATA intron_variant SKCA-BR 2 54988170 54988170 single base substitution C T intron_variant SKCA-BR 2 54988504 54988504 single base substitution G A intron_variant SKCA-BR 2 54991444 54991444 single base substitution T C intron_variant SKCA-BR 2 54992890 54992890 single base substitution T A intron_variant SKCA-BR 2 54993624 54993624 single base substitution C T intron_variant SKCA-BR 2 54999058 54999058 single base substitution C T intron_variant SKCA-BR 2 55000192 55000192 single base substitution C T intron_variant SKCA-BR 2 55002488 55002488 single base substitution A G intron_variant SKCA-BR 2 55004609 55004609 single base substitution A C intron_variant SKCA-BR 2 55004687 55004687 single base substitution G A intron_variant SKCA-BR 2 55005821 55005821 single base substitution C T intron_variant SKCA-BR 2 55006101 55006101 single base substitution T A intron_variant SKCA-BR 2 55007071 55007071 single base substitution T A intron_variant SKCA-BR 2 55009807 55009807 insertion of <=200bp - TG intron_variant SKCA-BR 2 55012288 55012288 single base substitution C T intron_variant SKCA-BR 2 55012307 55012308 deletion of <=200bp CT - intron_variant SKCA-BR 2 55013349 55013349 single base substitution C T intron_variant SKCA-BR 2 55015604 55015604 single base substitution G A intron_variant SKCA-BR 2 55015607 55015607 single base substitution C A intron_variant SKCA-BR 2 55016200 55016200 single base substitution C T intron_variant SKCA-BR 2 55017892 55017892 single base substitution A T intron_variant SKCA-BR 2 55017953 55017953 single base substitution C T intron_variant SKCA-BR 2 55021123 55021123 single base substitution C T intron_variant SKCA-BR 2 55022459 55022459 single base substitution G A intron_variant SKCA-BR 2 55022460 55022460 single base substitution G A intron_variant SKCA-BR 2 55023640 55023640 single base substitution C T intron_variant SKCA-BR 2 55024172 55024172 single base substitution G T intron_variant SKCA-BR 2 55025818 55025818 single base substitution G A intron_variant SKCA-BR 2 55027158 55027158 single base substitution T G intron_variant SKCA-BR 2 55027594 55027594 single base substitution A C intron_variant SKCA-BR 2 55027865 55027865 single base substitution C T intron_variant SKCA-BR 2 55028463 55028463 single base substitution A G intron_variant SKCA-BR 2 55028964 55028964 single base substitution T G intron_variant SKCA-BR 2 55029665 55029665 single base substitution G A intron_variant SKCA-BR 2 55029796 55029796 insertion of <=200bp - ACTACTA intron_variant SKCA-BR 2 55031748 55031749 deletion of <=200bp GT - intron_variant SKCA-BR 2 55033664 55033664 single base substitution C T intron_variant SKCA-BR 2 55033999 55033999 single base substitution T G intron_variant SKCA-BR 2 55038418 55038418 single base substitution C T intron_variant SKCA-BR 2 55038532 55038532 single base substitution C T intron_variant SKCA-BR 2 55038534 55038534 single base substitution C T intron_variant SKCA-BR 2 55038614 55038614 single base substitution C A intron_variant SKCA-BR 2 55038701 55038701 single base substitution C T intron_variant SKCA-BR 2 55039111 55039111 single base substitution C T intron_variant SKCA-BR 2 55040676 55040676 single base substitution C T intron_variant SKCA-BR 2 55042774 55042775 deletion of <=200bp GA - intron_variant SKCA-BR 2 55046098 55046098 single base substitution T G downstream_gene_variant SKCA-BR 2 55046098 55046098 single base substitution T G intron_variant SKCA-BR 2 55047549 55047549 single base substitution G A downstream_gene_variant SKCA-BR 2 55047549 55047549 single base substitution G A missense_variant D159N 475G>A SKCA-BR 2 55048749 55048749 single base substitution G A downstream_gene_variant SKCA-BR 2 55048749 55048749 single base substitution G A intron_variant SKCA-BR 2 55053783 55053783 single base substitution C T intron_variant SKCA-BR 2 55054175 55054175 single base substitution T G intron_variant SKCA-BR 2 55057468 55057468 single base substitution C T intron_variant SKCA-BR 2 55059402 55059402 single base substitution G A intron_variant SKCA-BR 2 55059879 55059879 insertion of <=200bp - AC intron_variant SKCA-BR 2 55060004 55060004 single base substitution C T intron_variant SKCA-BR 2 55060101 55060101 single base substitution C T intron_variant SKCA-BR 2 55060145 55060145 single base substitution C T intron_variant SKCA-BR 2 55062288 55062288 single base substitution C T intron_variant SKCA-BR 2 55063473 55063473 single base substitution A C intron_variant SKCA-BR 2 55066310 55066310 single base substitution T C intron_variant SKCA-BR 2 55067298 55067298 single base substitution C T intron_variant SKCA-BR 2 55068695 55068695 single base substitution A G intron_variant SKCA-BR 2 55069609 55069609 single base substitution G A intron_variant SKCA-BR 2 55073433 55073433 single base substitution C T intron_variant SKCA-BR 2 55073669 55073669 single base substitution G A intron_variant SKCA-BR 2 55074083 55074083 single base substitution G T intron_variant SKCA-BR 2 55074877 55074877 insertion of <=200bp - GGGATCGTA intron_variant SKCA-BR 2 55074878 55074878 single base substitution A G intron_variant SKCA-BR 2 55074880 55074881 deletion of <=200bp TA - intron_variant SKCA-BR 2 55074887 55074887 insertion of <=200bp - GT intron_variant SKCA-BR 2 55074889 55074897 deletion of <=200bp TCTACGATC - intron_variant SKCA-BR 2 55074898 55074898 single base substitution C T intron_variant SKCA-BR 2 55076472 55076472 single base substitution C T intron_variant SKCA-BR 2 55076472 55076472 single base substitution C T upstream_gene_variant SKCA-BR 2 55076834 55076834 single base substitution C T intron_variant SKCA-BR 2 55076834 55076834 single base substitution C T upstream_gene_variant SKCA-BR 2 55077261 55077261 single base substitution C T synonymous_variant S450S 1350C>T SKCA-BR 2 55077261 55077261 single base substitution C T upstream_gene_variant SKCA-BR 2 55079560 55079560 single base substitution C T intron_variant SKCA-BR 2 55079560 55079560 single base substitution C T upstream_gene_variant SKCA-BR 2 55080118 55080118 single base substitution G A intron_variant SKCA-BR 2 55080118 55080118 single base substitution G A upstream_gene_variant SKCA-BR 2 55081376 55081376 single base substitution C T intron_variant SKCA-BR 2 55085748 55085748 single base substitution C T intron_variant SKCA-BR 2 55087315 55087315 single base substitution A G intron_variant SKCA-BR 2 55087540 55087540 single base substitution A G intron_variant SKCA-BR 2 55089476 55089476 single base substitution A T intron_variant SKCA-BR 2 55093758 55093758 single base substitution G A intron_variant SKCA-BR 2 55096423 55096423 single base substitution C T exon_variant SKCA-BR 2 55096423 55096423 single base substitution C T synonymous_variant S719S 2157C>T SKCA-BR 2 55096902 55096902 single base substitution C T intron_variant SKCA-BR 2 55097443 55097443 single base substitution G A intron_variant SKCA-BR 2 55097847 55097847 single base substitution C T intron_variant SKCA-BR 2 55099540 55099540 single base substitution C T intron_variant SKCA-BR 2 55101999 55101999 single base substitution C T intron_variant SKCA-BR 2 55104596 55104597 deletion of <=200bp TA - intron_variant SKCA-BR 2 55108178 55108178 single base substitution C T exon_variant SKCA-BR 2 55108178 55108178 single base substitution C T intron_variant SKCA-BR 2 55108785 55108787 deletion of <=200bp CAA - exon_variant SKCA-BR 2 55108785 55108787 deletion of <=200bp CAA - intron_variant SKCA-BR 2 55109426 55109426 insertion of <=200bp - TTTC exon_variant SKCA-BR 2 55109426 55109426 insertion of <=200bp - TTTC intron_variant SKCA-BR 2 55109437 55109437 single base substitution C T exon_variant SKCA-BR 2 55109437 55109437 single base substitution C T intron_variant SKCA-BR 2 55109708 55109708 single base substitution G A exon_variant SKCA-BR 2 55109708 55109708 single base substitution G A intron_variant SKCA-BR 2 55112572 55112572 single base substitution G A downstream_gene_variant SKCA-BR 2 55112572 55112572 single base substitution G A intron_variant SKCA-BR 2 55113294 55113299 deletion of <=200bp CTTCTT - downstream_gene_variant SKCA-BR 2 55113294 55113299 deletion of <=200bp CTTCTT - intron_variant SKCA-BR 2 55117575 55117575 single base substitution G A intron_variant SKCA-BR 2 55119641 55119641 single base substitution G A missense_variant E864K 2590G>A SKCA-BR 2 55119920 55119920 single base substitution A G intron_variant SKCA-BR 2 55121943 55121943 single base substitution G A intron_variant SKCA-BR 2 55123914 55123914 single base substitution C T intron_variant SKCA-BR 2 55124658 55124658 single base substitution C T intron_variant SKCA-BR 2 55126390 55126390 single base substitution C T intron_variant SKCA-BR 2 55127759 55127759 single base substitution C T intron_variant SKCA-BR 2 55130678 55130678 single base substitution T C intron_variant SKCA-BR 2 55130897 55130897 single base substitution T C intron_variant SKCA-BR 2 55132877 55132877 single base substitution G A intron_variant SKCA-BR 2 55133344 55133344 single base substitution G A intron_variant SKCA-BR 2 55135065 55135065 insertion of <=200bp - AT intron_variant SKCA-BR 2 55135067 55135091 deletion of <=200bp AGATAGATAGATAGATAAGATAGAT - intron_variant SKCA-BR 2 55135079 55135087 deletion of <=200bp AGATAAGAT - intron_variant SKCA-BR 2 55135098 55135098 insertion of <=200bp - AT intron_variant SKCA-BR 2 55139037 55139037 single base substitution C T intron_variant SKCA-BR 2 55139460 55139460 single base substitution C T intron_variant SKCA-BR 2 55141137 55141137 single base substitution C T intron_variant SKCA-BR 2 55141138 55141138 single base substitution C T intron_variant SKCA-BR 2 55142969 55142969 single base substitution C T intron_variant SKCA-BR 2 55144125 55144125 single base substitution A T intron_variant SKCA-BR 2 55144481 55144481 single base substitution C T intron_variant SKCA-BR 2 55146178 55146178 single base substitution T C intron_variant SKCA-BR 2 55146339 55146339 single base substitution A C intron_variant SKCA-BR 2 55147758 55147758 single base substitution G A intron_variant SKCA-BR 2 55148908 55148908 single base substitution C T intron_variant SKCA-BR 2 55149080 55149080 single base substitution T C intron_variant SKCA-BR 2 55149655 55149655 single base substitution G A intron_variant SKCA-BR 2 55150169 55150169 single base substitution C T intron_variant SKCA-BR 2 55151659 55151659 single base substitution G A intron_variant SKCA-BR 2 55152433 55152433 single base substitution G C intron_variant SKCA-BR 2 55155425 55155425 single base substitution T G intron_variant SKCA-BR 2 55157128 55157128 single base substitution G A intron_variant SKCA-BR 2 55157140 55157140 single base substitution C T intron_variant SKCA-BR 2 55157655 55157655 insertion of <=200bp - CT intron_variant SKCA-BR 2 55158030 55158030 single base substitution C T intron_variant SKCA-BR 2 55158388 55158388 single base substitution C T intron_variant SKCA-BR 2 55158389 55158389 single base substitution C T intron_variant SKCA-BR 2 55158968 55158968 single base substitution C T intron_variant SKCA-BR 2 55159126 55159126 single base substitution A T intron_variant SKCA-BR 2 55164034 55164034 single base substitution C T intron_variant SKCA-BR 2 55164415 55164415 insertion of <=200bp - CA intron_variant SKCA-BR 2 55171626 55171626 single base substitution C T intron_variant SKCA-BR 2 55171626 55171626 single base substitution C T upstream_gene_variant SKCA-BR 2 55172100 55172100 single base substitution C T intron_variant SKCA-BR 2 55172100 55172100 single base substitution C T upstream_gene_variant SKCA-BR 2 55173992 55173994 deletion of <=200bp CAT - intron_variant SKCA-BR 2 55173992 55173994 deletion of <=200bp CAT - upstream_gene_variant SKCA-BR 2 55174328 55174328 single base substitution G A intron_variant SKCA-BR 2 55174328 55174328 single base substitution G A upstream_gene_variant SKCA-BR 2 55177242 55177242 single base substitution G A intron_variant SKCA-BR 2 55177242 55177242 single base substitution G A upstream_gene_variant SKCA-BR 2 55177654 55177654 single base substitution C T intron_variant SKCA-BR 2 55177654 55177654 single base substitution C T upstream_gene_variant SKCA-BR 2 55177675 55177675 single base substitution A C intron_variant SKCA-BR 2 55177675 55177675 single base substitution A C upstream_gene_variant SKCA-BR 2 55177873 55177873 single base substitution C T exon_variant SKCA-BR 2 55177873 55177873 single base substitution C T synonymous_variant I1390I 4170C>T SKCA-BR 2 55177873 55177873 single base substitution C T upstream_gene_variant SKCA-BR 2 55179006 55179006 single base substitution C A intron_variant SKCA-BR 2 55179006 55179006 single base substitution C A upstream_gene_variant SKCA-BR 2 55180264 55180264 single base substitution G A intron_variant SKCA-BR 2 55180264 55180264 single base substitution G A upstream_gene_variant SKCA-BR 2 55183155 55183155 insertion of <=200bp - CGT intron_variant SKCA-BR 2 55185606 55185606 single base substitution G A intron_variant SKCA-BR 2 55186394 55186394 single base substitution A C exon_variant SKCA-BR 2 55186394 55186394 single base substitution A C synonymous_variant R1617R 4849A>C SKCA-BR 2 55186394 55186394 single base substitution A C upstream_gene_variant SKCA-BR 2 55188320 55188320 insertion of <=200bp - GTTGTTTTT downstream_gene_variant SKCA-BR 2 55188320 55188320 insertion of <=200bp - GTTGTTTTT intron_variant SKCA-BR 2 55188320 55188320 insertion of <=200bp - GTTGTTTTTTT downstream_gene_variant SKCA-BR 2 55188320 55188320 insertion of <=200bp - GTTGTTTTTTT intron_variant SKCA-BR 2 55188320 55188320 insertion of <=200bp - GTTGTTTTTTT upstream_gene_variant SKCA-BR 2 55188320 55188320 insertion of <=200bp - GTTGTTTTT upstream_gene_variant SKCA-BR 2 55188321 55188321 insertion of <=200bp - TTG downstream_gene_variant SKCA-BR 2 55188321 55188321 insertion of <=200bp - TTG intron_variant SKCA-BR 2 55188321 55188321 insertion of <=200bp - TTG upstream_gene_variant SKCA-BR 2 55188322 55188322 insertion of <=200bp - TG downstream_gene_variant SKCA-BR 2 55188322 55188322 insertion of <=200bp - TG intron_variant SKCA-BR 2 55188322 55188322 insertion of <=200bp - TG upstream_gene_variant SKCA-BR 2 55188323 55188323 single base substitution T G downstream_gene_variant SKCA-BR 2 55188323 55188323 single base substitution T G intron_variant SKCA-BR 2 55188323 55188323 single base substitution T G upstream_gene_variant SKCA-BR 2 55188731 55188731 single base substitution G A downstream_gene_variant SKCA-BR 2 55188731 55188731 single base substitution G A intron_variant SKCA-BR 2 55188731 55188731 single base substitution G A upstream_gene_variant SKCA-BR 2 55189219 55189219 insertion of <=200bp - GT downstream_gene_variant SKCA-BR 2 55189219 55189219 insertion of <=200bp - GT intron_variant SKCA-BR 2 55189219 55189219 insertion of <=200bp - GT upstream_gene_variant SKCA-BR 2 55194189 55194189 single base substitution G A exon_variant SKCA-BR 2 55194189 55194189 single base substitution G A intron_variant SKCA-BR 2 55194189 55194189 single base substitution G A synonymous_variant Q1849Q 5547G>A SKCA-BR 2 55194189 55194189 single base substitution G A upstream_gene_variant SKCA-BR 2 55195056 55195056 single base substitution G T intron_variant SKCA-BR 2 55195056 55195056 single base substitution G T upstream_gene_variant SKCA-BR 2 55197324 55197324 single base substitution G A 3_prime_UTR_variant SKCA-BR 2 55197324 55197324 single base substitution G A downstream_gene_variant SKCA-BR 2 55197324 55197324 single base substitution G A exon_variant SKCA-BR 2 55197324 55197324 single base substitution G A upstream_gene_variant SKCA-BR 2 55198176 55198176 single base substitution A T 3_prime_UTR_variant SKCA-BR 2 55198176 55198176 single base substitution A T downstream_gene_variant SKCA-BR 2 55198176 55198176 single base substitution A T exon_variant SKCA-BR 2 55198176 55198176 single base substitution A T intron_variant SKCA-BR 2 55198661 55198661 single base substitution G C 3_prime_UTR_variant SKCA-BR 2 55198661 55198661 single base substitution G C downstream_gene_variant SKCA-BR 2 55198661 55198661 single base substitution G C intron_variant SKCA-BR 2 55203421 55203421 single base substitution C T downstream_gene_variant SKCA-BR 2 55203964 55203964 single base substitution G A downstream_gene_variant SKCM-US 2 55200750 55200750 single base substitution A T downstream_gene_variant THCA-SA 2 55106753 55106753 single base substitution A G exon_variant THCA-SA 2 55106753 55106753 single base substitution A G missense_variant K805R 2414A>G THCA-SA 2 55198399 55198399 single base substitution G A 3_prime_UTR_variant THCA-SA 2 55198399 55198399 single base substitution G A downstream_gene_variant THCA-SA 2 55198399 55198399 single base substitution G A exon_variant THCA-SA 2 55198399 55198399 single base substitution G A intron_variant UCEC-US 2 54952363 54952363 single base substitution A C downstream_gene_variant UCEC-US 2 54952363 54952363 single base substitution A C intron_variant UCEC-US 2 54952363 54952363 single base substitution A C missense_variant K55N 165A>C UCEC-US 2 55040396 55040396 single base substitution C T exon_variant UCEC-US 2 55040396 55040396 single base substitution C T synonymous_variant L75L 225C>T UCEC-US 2 55040504 55040504 single base substitution C T exon_variant UCEC-US 2 55040504 55040504 single base substitution C T synonymous_variant C111C 333C>T UCEC-US 2 55056530 55056530 single base substitution C T stop_gained R255* 763C>T UCEC-US 2 55071206 55071206 single base substitution C T synonymous_variant C290C 870C>T UCEC-US 2 55071257 55071257 single base substitution A G synonymous_variant E307E 921A>G UCEC-US 2 55071369 55071369 single base substitution G A missense_variant D345N 1033G>A UCEC-US 2 55074654 55074654 single base substitution G A missense_variant A361T 1081G>A UCEC-US 2 55077136 55077136 single base substitution G T stop_gained E409* 1225G>T UCEC-US 2 55077136 55077136 single base substitution G T upstream_gene_variant UCEC-US 2 55077148 55077148 single base substitution G T stop_gained E413* 1237G>T UCEC-US 2 55077148 55077148 single base substitution G T upstream_gene_variant UCEC-US 2 55077240 55077240 single base substitution A C missense_variant K443N 1329A>C UCEC-US 2 55077240 55077240 single base substitution A C upstream_gene_variant UCEC-US 2 55080912 55080912 single base substitution C T missense_variant A526V 1577C>T UCEC-US 2 55080912 55080912 single base substitution C T upstream_gene_variant UCEC-US 2 55096450 55096450 single base substitution C T exon_variant UCEC-US 2 55096450 55096450 single base substitution C T synonymous_variant D728D 2184C>T UCEC-US 2 55098674 55098674 single base substitution A T exon_variant UCEC-US 2 55098674 55098674 single base substitution A T missense_variant Q759L 2276A>T UCEC-US 2 55122110 55122110 single base substitution G A missense_variant R934K 2801G>A UCEC-US 2 55122123 55122123 single base substitution T G synonymous_variant T938T 2814T>G UCEC-US 2 55122439 55122439 single base substitution C A missense_variant R962S 2884C>A UCEC-US 2 55130237 55130237 single base substitution G A missense_variant D1061N 3181G>A UCEC-US 2 55130303 55130303 single base substitution G T stop_gained E1083* 3247G>T UCEC-US 2 55130604 55130604 single base substitution C A missense_variant S1125Y 3374C>A UCEC-US 2 55138172 55138172 single base substitution C A missense_variant P1164H 3491C>A UCEC-US 2 55143932 55143932 single base substitution C A missense_variant L1179M 3535C>A UCEC-US 2 55155458 55155458 single base substitution C T synonymous_variant H1228H 3684C>T UCEC-US 2 55155464 55155464 single base substitution A G synonymous_variant R1230R 3690A>G UCEC-US 2 55155819 55155819 single base substitution C T missense_variant A1312V 3935C>T UCEC-US 2 55179775 55179775 single base substitution C A exon_variant UCEC-US 2 55179775 55179775 single base substitution C A missense_variant L1420I 4258C>A UCEC-US 2 55179775 55179775 single base substitution C A upstream_gene_variant UCEC-US 2 55179807 55179807 single base substitution C T exon_variant UCEC-US 2 55179807 55179807 single base substitution C T synonymous_variant N1430N 4290C>T UCEC-US 2 55179807 55179807 single base substitution C T upstream_gene_variant UCEC-US 2 55184962 55184962 single base substitution C T exon_variant UCEC-US 2 55184962 55184962 single base substitution C T missense_variant R1508C 4522C>T UCEC-US 2 55186384 55186384 single base substitution C T exon_variant UCEC-US 2 55186384 55186384 single base substitution C T synonymous_variant G1613G 4839C>T UCEC-US 2 55186384 55186384 single base substitution C T upstream_gene_variant UCEC-US 2 55189683 55189683 single base substitution G T downstream_gene_variant UCEC-US 2 55189683 55189683 single base substitution G T exon_variant UCEC-US 2 55189683 55189683 single base substitution G T missense_variant D1665Y 4993G>T UCEC-US 2 55189683 55189683 single base substitution G T upstream_gene_variant UCEC-US 2 55189824 55189824 single base substitution C T downstream_gene_variant UCEC-US 2 55189824 55189824 single base substitution C T exon_variant UCEC-US 2 55189824 55189824 single base substitution C T missense_variant R1712W 5134C>T UCEC-US 2 55189824 55189824 single base substitution C T upstream_gene_variant UCEC-US 2 55191215 55191215 single base substitution G T downstream_gene_variant UCEC-US 2 55191215 55191215 single base substitution G T exon_variant UCEC-US 2 55191215 55191215 single base substitution G T stop_gained E1751* 5251G>T UCEC-US 2 55191215 55191215 single base substitution G T upstream_gene_variant UCEC-US 2 55191240 55191240 single base substitution G A downstream_gene_variant UCEC-US 2 55191240 55191240 single base substitution G A exon_variant UCEC-US 2 55191240 55191240 single base substitution G A missense_variant S1759N 5276G>A UCEC-US 2 55191240 55191240 single base substitution G A upstream_gene_variant UCEC-US 2 55194157 55194157 single base substitution C T exon_variant UCEC-US 2 55194157 55194157 single base substitution C T intron_variant UCEC-US 2 55194157 55194157 single base substitution C T missense_variant R1839C 5515C>T UCEC-US 2 55194157 55194157 single base substitution C T upstream_gene_variant UCEC-US 2 55195416 55195416 single base substitution T G downstream_gene_variant UCEC-US 2 55195416 55195416 single base substitution T G missense_variant F1917C 5750T>G UCEC-US 2 55195416 55195416 single base substitution T G splice_region_variant UCEC-US 2 55195416 55195416 single base substitution T G upstream_gene_variant UCEC-US 2 55197221 55197221 single base substitution G A downstream_gene_variant UCEC-US 2 55197221 55197221 single base substitution G A exon_variant UCEC-US 2 55197221 55197221 single base substitution G A missense_variant R1956Q 5867G>A UCEC-US 2 55197221 55197221 single base substitution G A upstream_gene_variant UCEC-US 2 55200750 55200750 single base substitution A G downstream_gene_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand TCGA-BG-A0M3-01 COSM1021725 c.333C>T p.C111C Substitution - coding silent 2:54813367-54813367 + Gp5D COSM3052830 c.4798A>G p.T1600A Substitution - Missense 2:54959206-54959206 + PD7250a COSM5775303 c.4380C>G p.F1460L Substitution - Missense 2:54954050-54954050 + C086 COSM5530459 c.2242G>A p.G748R Substitution - Missense 2:54871503-54871503 + KYSE-150 COSM3052852 c.5577C>A p.I1859I Substitution - coding silent 2:54967083-54967083 + TCGA-CA-6717-01 COSM1408588 c.1250C>A p.S417Y Substitution - Missense 2:54850024-54850024 + RKO COSM4648599 c.2981A>G p.Q994R Substitution - Missense 2:54895399-54895399 + TCGA-EI-6917-01 COSM3052771 c.2884C>T p.R962C Substitution - Missense 2:54895302-54895302 + ITNET_1027_T COSM4963873 c.582A>G p.T194T Substitution - coding silent 2:54827622-54827622 + 34_tFL COSM4171179 c.7G>T p.D3Y Substitution - Missense 2:54725068-54725068 + TCGA-RC-A7S9-01 COSM4940279 c.4681G>T p.V1561L Substitution - Missense 2:54957984-54957984 + 8034252 COSM3391788 c.5662G>A p.A1888T Substitution - Missense 2:54968192-54968192 + TCGA-E2-A10C-01 COSM443026 c.3067C>A p.R1023S Substitution - Missense 2:54899725-54899725 + Au10 COSM5598263 c.2618G>A p.R873Q Substitution - Missense 2:54892532-54892532 + J30_T COSM3962941 c.3774C>A p.G1258G Substitution - coding silent 2:54928411-54928411 + TCGA-D1-A17Q-01 COSM1021737 c.2801G>A p.R934K Substitution - Missense 2:54894973-54894973 + BD236T COSM3052714 c.243C>T p.V81V Substitution - coding silent 2:54813277-54813277 + TCGA-EK-A2RA-01 COSM4848376 c.884G>A p.R295H Substitution - Missense 2:54844083-54844083 + S00050 COSM5657160 c.3618C>T p.S1206S Substitution - coding silent 2:54916878-54916878 + Detroit_562 COSM4594558 c.255A>G p.P85P Substitution - coding silent 2:54813289-54813289 + HCC2998 COSM3052754 c.1937A>G p.Y646C Substitution - Missense 2:54866770-54866770 + BN50T COSM1614949 c.74G>T p.R25L Substitution - Missense 2:54725135-54725135 + 34T COSM3714213 c.3313A>G p.N1105D Substitution - Missense 2:54903406-54903406 + sysucc-743T COSM5451019 c.2951A>G p.D984G Substitution - Missense 2:54895369-54895369 + YUJUBE COSM5397152 c.2711G>A p.G904E Substitution - Missense 2:54892625-54892625 + 8016470 COSM3391787 c.5442C>T p.I1814I Substitution - coding silent 2:54964682-54964682 + KYSE-150 COSM3052849 c.5447G>C p.S1816T Substitution - Missense 2:54964687-54964687 + C086 COSM5530454 c.4841G>A p.G1614E Substitution - Missense 2:54959249-54959249 + PD18257a COSM5770956 c.1312G>T p.A438S Substitution - Missense 2:54850086-54850086 + SNU-175 COSM3052837 c.5189C>T p.A1730V Substitution - Missense 2:54964017-54964017 + YUMOKI COSM5397151 c.2409G>A p.W803* Substitution - Nonsense 2:54879611-54879611 + BD98T COSM5520642 c.957C>G p.I319M Substitution - Missense 2:54844156-54844156 + ATL079 COSM5708253 c.3488G>A p.R1163K Substitution - Missense 2:54911032-54911032 + PT36 COSM5914918 c.2464G>A p.V822I Substitution - Missense 2:54891079-54891079 + 0063_CRUK_PC_0063_T1_DNA COSM5420812 c.3631G>A p.G1211R Substitution - Missense 2:54916891-54916891 + S01366 COSM5668172 c.5501_5517del17 p.Y1837fs*1 Deletion - Frameshift 2:54967007-54967023 + CRC-36T COSM5460888 c.4879T>C p.L1627L Substitution - coding silent 2:54960245-54960245 + C135 COSM1408596 c.3449delT p.F1152fs*10 Deletion - Frameshift 2:54910993-54910993 + RK245_C01 COSM4945320 c.4416A>T p.A1472A Substitution - coding silent 2:54954086-54954086 + PT14_1 COSM5896606 c.3662C>T p.S1221L Substitution - Missense 2:54916922-54916922 + CSCC-31-T COSM4546813 c.4084G>A p.E1362K Substitution - Missense 2:54950650-54950650 + SW48 COSM3052726 c.715G>A p.G239R Substitution - Missense 2:54829345-54829345 + TCGA-D5-6928-01 COSM1408585 c.995C>T p.A332V Substitution - Missense 2:54844194-54844194 + 1517_PT COSM3052842 c.5293delA p.K1766fs*20 Deletion - Frameshift 2:54964121-54964121 + BK0094 COSM4188835 c.1859A>C p.D620A Substitution - Missense 2:54863816-54863816 + HT115 COSM3052848 c.5420G>A p.R1807H Substitution - Missense 2:54964660-54964660 + TCGA-A6-6140-01 COSM3758286 c.4995C>T p.D1665D Substitution - coding silent 2:54962549-54962549 + TCGA-AP-A0LM-01 COSM1021729 c.1033G>A p.D345N Substitution - Missense 2:54844232-54844232 + BD124T COSM5491383 c.2478A>T p.P826P Substitution - coding silent 2:54891093-54891093 + CSCC-27-T COSM4486230 c.3027C>T p.L1009L Substitution - coding silent 2:54899685-54899685 + TCGA-D1-A17Q-01 COSM1021724 c.225C>T p.L75L Substitution - coding silent 2:54813259-54813259 + TCGA-B5-A0JY-01 COSM1021731 c.1225G>T p.E409* Substitution - Nonsense 2:54849999-54849999 + OSCC-GB_01030111 COSM4887680 c.4325C>A p.S1442Y Substitution - Missense 2:54953995-54953995 + TCGA-D1-A103-01 COSM1021750 c.4522C>T p.R1508C Substitution - Missense 2:54957825-54957825 + SJRHB003_D COSM3738366 c.2532A>G p.Q844Q Substitution - coding silent 2:54891147-54891147 + BD49T COSM5075450 c.1423C>T p.R475* Substitution - Nonsense 2:54850197-54850197 + sysucc-311T COSM5465583 c.1229T>G p.V410G Substitution - Missense 2:54850003-54850003 + LS411 COSM3052817 c.4436C>T p.S1479L Substitution - Missense 2:54954106-54954106 + OSCC-GB_00410111 COSM3714212 c.1691C>T p.A564V Substitution - Missense 2:54859567-54859567 + SNUH_G45_S1 COSM4001702 c.4849A>C p.R1617R Substitution - coding silent 2:54959257-54959257 + J52_T COSM3962939 c.1499G>T p.W500L Substitution - Missense 2:54853697-54853697 + SNU-C4 COSM1408600 c.5018delA p.N1675fs*7 Deletion - Frameshift 2:54962572-54962572 + TCGA-AU-6004-01 COSM1408587 c.1203A>G p.V401V Substitution - coding silent 2:54849977-54849977 + RK262_C01 COSM3743841 c.5690T>C p.I1897T Substitution - Missense 2:54968220-54968220 + TCGA-EI-6917-01 COSM3426539 c.1216G>T p.D406Y Substitution - Missense 2:54849990-54849990 + BN50 COSM1614949 c.74G>T p.R25L Substitution - Missense 2:54725135-54725135 + 2492703 COSM5599466 c.3076G>T p.E1026* Substitution - Nonsense 2:54899734-54899734 + HCA7 COSM4630786 c.4004G>T p.R1335I Substitution - Missense 2:54928751-54928751 + CSCC-20-T COSM4487147 c.3147C>T p.S1049S Substitution - coding silent 2:54903066-54903066 + OSCC-GB_00330111 COSM3714214 c.4260C>T p.L1420L Substitution - coding silent 2:54952640-54952640 + TCGA-BG-A0M4-01 COSM1021753 c.5134C>T p.R1712W Substitution - Missense 2:54962688-54962688 + C086 COSM5530456 c.3985G>A p.E1329K Substitution - Missense 2:54928732-54928732 + TCGA-AM-5821-01 COSM3758286 c.4995C>T p.D1665D Substitution - coding silent 2:54962549-54962549 + HCC156 COSM3709718 c.3717A>G p.A1239A Substitution - coding silent 2:54928354-54928354 + HCT15 COSM1408596 c.3449delT p.F1152fs*10 Deletion - Frameshift 2:54910993-54910993 + 2492720 COSM5719598 c.798C>T p.F266F Substitution - coding silent 2:54829428-54829428 + J90_T COSM3962940 c.1953T>C p.P651P Substitution - coding silent 2:54866786-54866786 + 2492730 COSM5728658 c.296C>T p.S99F Substitution - Missense 2:54813330-54813330 + ESCC_71 COSM5634173 c.5617A>G p.I1873V Substitution - Missense 2:54968147-54968147 + ITNET_0151_T COSM4963936 c.5120A>G p.N1707S Substitution - Missense 2:54962674-54962674 + TCGA-Q1-A5R2-01 COSM4850413 c.3230C>G p.S1077C Substitution - Missense 2:54903149-54903149 + TCGA-JX-A3Q0-01 COSM4824924 c.3305C>T p.S1102F Substitution - Missense 2:54903398-54903398 + RW7213 COSM4649997 c.18G>T p.A6A Substitution - coding silent 2:54725079-54725079 + pfg043T COSM4755609 c.4072A>C p.K1358Q Substitution - Missense 2:54948949-54948949 + HT115 COSM3052764 c.2300T>C p.L767S Substitution - Missense 2:54871561-54871561 + OSCC-GB_01100111 COSM4888404 c.2537C>A p.A846E Substitution - Missense 2:54891152-54891152 + TCGA-A2-A0T5-01 COSM3839695 c.3961A>C p.T1321P Substitution - Missense 2:54928708-54928708 + BN13T COSM1614952 c.5438A>C p.D1813A Substitution - Missense 2:54964678-54964678 + ZZUFHECRKL-G051T COSM5431269 c.1319G>T p.R440M Substitution - Missense 2:54850093-54850093 + TCGA-EI-6883-01 COSM1021729 c.1033G>A p.D345N Substitution - Missense 2:54844232-54844232 + TCGA-A2-A0D1-01 COSM5834474 c.4134_4135insC p.N1379fs*6 Insertion - Frameshift 2:54950700-54950701 + TCGA-A4-A6HP-01 COSM3052846 c.5388C>A p.F1796L Substitution - Missense 2:54964628-54964628 + CHC1601T COSM4805154 c.4641C>T p.I1547I Substitution - coding silent 2:54957944-54957944 + SNU-175 COSM1185908 c.5177G>C p.S1726T Substitution - Missense 2:54964005-54964005 + TCGA-A7-A13D-01 COSM443022 c.1560C>G p.D520E Substitution - Missense 2:54853758-54853758 + HCC107T COSM1614951 c.5230G>A p.A1744T Substitution - Missense 2:54964058-54964058 + TCGA-CK-5913-01 COSM1408586 c.1108C>T p.R370C Substitution - Missense 2:54847544-54847544 + 42 COSM5733920 c.752C>G p.A251G Substitution - Missense 2:54829382-54829382 + 2492722 COSM5719598 c.798C>T p.F266F Substitution - coding silent 2:54829428-54829428 + AOCS-150-3-1 COSM4141158 c.3630C>T p.T1210T Substitution - coding silent 2:54916890-54916890 + CSCC-10-T COSM4478438 c.223C>T p.L75F Substitution - Missense 2:54813257-54813257 + HCC125T COSM1614950 c.657C>G p.D219E Substitution - Missense 2:54827697-54827697 + Gp2D COSM3052830 c.4798A>G p.T1600A Substitution - Missense 2:54959206-54959206 + EGC15 COSM5058955 c.859C>T p.R287W Substitution - Missense 2:54844058-54844058 + TCGA-IR-A3LA-01 COSM4845878 c.2639C>T p.S880L Substitution - Missense 2:54892553-54892553 + C086 COSM3052771 c.2884C>T p.R962C Substitution - Missense 2:54895302-54895302 + 25_tFL COSM4171181 c.2272A>G p.T758A Substitution - Missense 2:54871533-54871533 + TCGA-G4-6628-01 COSM1408602 c.5292G>A p.G1764G Substitution - coding silent 2:54964120-54964120 + TCGA-Q1-A73O-01 COSM4834377 c.1431C>G p.F477L Substitution - Missense 2:54850205-54850205 + TCGA-CZ-4865-01 COSM3364773 c.5669T>A p.V1890E Substitution - Missense 2:54968199-54968199 + TCGA-AZ-4315-01 COSM1408584 c.413G>T p.R138M Substitution - Missense 2:54816842-54816842 + C086 COSM5530458 c.2351G>A p.G784E Substitution - Missense 2:54879553-54879553 + LP6005690-DNA_E03 COSM5952734 c.2144G>A p.R715Q Substitution - Missense 2:54869273-54869273 + Gp2D COSM4628078 c.4430T>C p.L1477P Substitution - Missense 2:54954100-54954100 + 2492701 COSM5599466 c.3076G>T p.E1026* Substitution - Nonsense 2:54899734-54899734 + SNU-175 COSM3052859 c.5845G>A p.D1949N Substitution - Missense 2:54968761-54968761 + TCGA-EK-A2R9-01 COSM4822965 c.567G>T p.G189G Substitution - coding silent 2:54827607-54827607 + AOCS-150-8-X COSM4141158 c.3630C>T p.T1210T Substitution - coding silent 2:54916890-54916890 + 2492702 COSM5599466 c.3076G>T p.E1026* Substitution - Nonsense 2:54899734-54899734 + HCA7 COSM4630785 c.1801G>T p.G601C Substitution - Missense 2:54859677-54859677 + TCGA-BH-A18V-01 COSM443023 c.1987G>A p.A663T Substitution - Missense 2:54866820-54866820 + pfg064T COSM4755587 c.1129G>A p.D377N Substitution - Missense 2:54847565-54847565 + TCGA-BG-A0VZ-01 COSM1021751 c.4839C>T p.G1613G Substitution - coding silent 2:54959247-54959247 + PD4006a COSM3664534 c.3009G>T p.G1003G Substitution - coding silent 2:54899667-54899667 + 545 COSM3052848 c.5420G>A p.R1807H Substitution - Missense 2:54964660-54964660 + TCGA-DC-6683-01 COSM1565539 c.1762G>A p.V588I Substitution - Missense 2:54859638-54859638 + CSCC-44-T COSM4550785 c.5098G>A p.D1700N Substitution - Missense 2:54962652-54962652 + TCGA-A2-A4S1-01 COSM5834473 c.2445_2446insA p.D817fs*2 Insertion - Frameshift 2:54891060-54891061 + TCGA-B0-4707-01 COSM3364771 c.4117G>T p.G1373C Substitution - Missense 2:54950683-54950683 + 2492723 COSM5719598 c.798C>T p.F266F Substitution - coding silent 2:54829428-54829428 + SW1463 COSM4655118 c.4901G>A p.R1634H Substitution - Missense 2:54960267-54960267 + TCGA-B5-A11N-01 COSM1021741 c.3247G>T p.E1083* Substitution - Nonsense 2:54903166-54903166 + RK070_C01 COSM3743840 c.243C>G p.V81V Substitution - coding silent 2:54813277-54813277 + TCGA-CA-6717-01 COSM1408594 c.3267G>T p.K1089N Substitution - Missense 2:54903186-54903186 + HCT15 COSM3052826 c.4728A>T p.G1576G Substitution - coding silent 2:54959136-54959136 + PDA_057 COSM5000978 c.4358C>A p.T1453N Substitution - Missense 2:54954028-54954028 + 8069120 COSM3771115 c.1882G>A p.E628K Substitution - Missense 2:54863839-54863839 + TCGA-A6-5665-01 COSM1408600 c.5018delA p.N1675fs*7 Deletion - Frameshift 2:54962572-54962572 + YUKAT COSM5397149 c.541G>A p.G181R Substitution - Missense 2:54827581-54827581 + PD7316a COSM5797351 c.5530G>C p.V1844L Substitution - Missense 2:54967036-54967036 + LP6005409-DNA_F03 COSM3758286 c.4995C>T p.D1665D Substitution - coding silent 2:54962549-54962549 + BRC48 COSM5025629 c.2036T>C p.L679P Substitution - Missense 2:54866869-54866869 + TCGA-AP-A0LM-01 COSM1021740 c.3181G>A p.D1061N Substitution - Missense 2:54903100-54903100 + Au4 COSM5603471 c.3992C>T p.S1331F Substitution - Missense 2:54928739-54928739 + CRC-19T COSM5481755 c.2369T>C p.V790A Substitution - Missense 2:54879571-54879571 + 11M COSM5576618 c.3076G>A p.E1026K Substitution - Missense 2:54899734-54899734 + TCGA-BS-A0UF-01 COSM1021739 c.2884C>A p.R962S Substitution - Missense 2:54895302-54895302 + 2492720 COSM5719599 c.4004G>A p.R1335K Substitution - Missense 2:54928751-54928751 + TCGA-AX-A0J0-01 COSM1021732 c.1237G>T p.E413* Substitution - Nonsense 2:54850011-54850011 + CRC-34T COSM5460809 c.5772C>T p.F1924F Substitution - coding silent 2:54968688-54968688 + TCGA-EI-6917-01 COSM3426540 c.1890C>A p.D630E Substitution - Missense 2:54863847-54863847 + CHC1604T COSM4787843 c.4756C>T p.L1586F Substitution - Missense 2:54959164-54959164 + YUMUL COSM5397154 c.3805G>A p.E1269K Substitution - Missense 2:54928442-54928442 + MO_1012 COSM5570784 c.4981G>T p.V1661L Substitution - Missense 2:54962535-54962535 + pfg057T COSM4755583 c.357G>T p.Q119H Substitution - Missense 2:54813391-54813391 + TCGA-B5-A11Y-01 COSM1021735 c.2184C>T p.D728D Substitution - coding silent 2:54869313-54869313 + TCGA-AC-A23H-01 COSM3839692 c.1900G>A p.E634K Substitution - Missense 2:54863857-54863857 + TCGA-AP-A059-01 COSM1021730 c.1081G>A p.A361T Substitution - Missense 2:54847517-54847517 + BD231T COSM5496820 c.2134G>C p.V712L Substitution - Missense 2:54869263-54869263 + CHC1081T COSM4791191 c.2849C>G p.S950* Substitution - Nonsense 2:54895021-54895021 + TCGA-B5-A11E-01 COSM1021726 c.763C>T p.R255* Substitution - Nonsense 2:54829393-54829393 + TCGA-AA-3510-01 COSM1408592 c.2366C>T p.S789L Substitution - Missense 2:54879568-54879568 + TCGA-CJ-4874-01 COSM3364772 c.4120T>C p.F1374L Substitution - Missense 2:54950686-54950686 + TCGA-D1-A103-01 COSM1021749 c.4290C>T p.N1430N Substitution - coding silent 2:54952670-54952670 + sysucc-274T COSM5476389 c.3236A>G p.H1079R Substitution - Missense 2:54903155-54903155 + OSCC-GB_00960111 COSM4885522 c.1011G>T p.K337N Substitution - Missense 2:54844210-54844210 + TCGA-AP-A0LM-01 COSM1021734 c.1577C>T p.A526V Substitution - Missense 2:54853775-54853775 + TCGA-AM-5820-01 COSM5134532 c.5299delC p.R1767fs*19 Deletion - Frameshift 2:54964127-54964127 + PD22362a COSM5780643 c.5240T>A p.M1747K Substitution - Missense 2:54964068-54964068 + TCGA-AP-A0LM-01 COSM1021733 c.1329A>C p.K443N Substitution - Missense 2:54850103-54850103 + LC_C10 COSM1185908 c.5177G>C p.S1726T Substitution - Missense 2:54964005-54964005 + 478 COSM4438962 c.3512A>T p.E1171V Substitution - Missense 2:54916772-54916772 + TCGA-B5-A0JN-01 COSM1021736 c.2276A>T p.Q759L Substitution - Missense 2:54871537-54871537 + 587278 COSM1205276 c.3107T>C p.V1036A Substitution - Missense 2:54899765-54899765 + HCC2998 COSM3052757 c.2064C>T p.Y688Y Substitution - coding silent 2:54869193-54869193 + YUHAMA COSM5397155 c.4460C>T p.T1487I Substitution - Missense 2:54954130-54954130 + CSCC-44-T COSM4564051 c.4266_4267GA>AC p.N1423H Substitution - Missense 2:54952646-54952647 + Gp2D COSM4628079 c.5855T>C p.V1952A Substitution - Missense 2:54970073-54970073 + RK187_C01 COSM3743841 c.5690T>C p.I1897T Substitution - Missense 2:54968220-54968220 + TCGA-CM-6674-01 COSM1408595 c.3296C>T p.A1099V Substitution - Missense 2:54903389-54903389 + CHC801T COSM4953368 c.3475C>G p.R1159G Substitution - Missense 2:54911019-54911019 + 2497781 COSM5750857 c.779G>A p.R260Q Substitution - Missense 2:54829409-54829409 + WSU-HN30 COSM4600737 c.1225G>C p.E409Q Substitution - Missense 2:54849999-54849999 + PD4006a COSM3664534 c.3009G>T p.G1003G Substitution - coding silent 2:54899667-54899667 + ATL001 COSM5708252 c.509G>A p.G170E Substitution - Missense 2:54820446-54820446 + STC297 COSM1408598 c.4063delA p.K1357fs*9 Deletion - Frameshift 2:54948940-54948940 + sysucc-274T COSM3839694 c.3586G>A p.V1196I Substitution - Missense 2:54916846-54916846 + OSCC-GB_00340111 COSM3714213 c.3313A>G p.N1105D Substitution - Missense 2:54903406-54903406 + TCGA-B5-A11E-01 COSM1021738 c.2814T>G p.T938T Substitution - coding silent 2:54894986-54894986 + 41T COSM3714212 c.1691C>T p.A564V Substitution - Missense 2:54859567-54859567 + SNU-175 COSM1408589 c.1365G>A p.T455T Substitution - coding silent 2:54850139-54850139 + TCGA-DD-A1EG-01 COSM4915769 c.254C>T p.P85L Substitution - Missense 2:54813288-54813288 + HCC156T COSM3709718 c.3717A>G p.A1239A Substitution - coding silent 2:54928354-54928354 + sysucc-2215T COSM5765600 c.1151G>A p.G384D Substitution - Missense 2:54847587-54847587 + C086 COSM1483146 c.3648C>T p.F1216F Substitution - coding silent 2:54916908-54916908 + TCGA-F5-6814-01 COSM3426538 c.720C>A p.I240I Substitution - coding silent 2:54829350-54829350 + SJOS011_D COSM5023773 c.2415G>T p.K805N Substitution - Missense 2:54879617-54879617 + SNU-C2B COSM3052717 c.466A>G p.I156V Substitution - Missense 2:54820403-54820403 + KYSE-510 COSM3052854 c.5633G>A p.R1878Q Substitution - Missense 2:54968163-54968163 + HCC125 COSM1614950 c.657C>G p.D219E Substitution - Missense 2:54827697-54827697 + 2492723 COSM5719599 c.4004G>A p.R1335K Substitution - Missense 2:54928751-54928751 + PD8978a COSM5797325 c.357+1G>C p.? Unknown 2:54813392-54813392 + TCGA-CM-6165-01 COSM1408590 c.1750G>C p.A584P Substitution - Missense 2:54859626-54859626 + TCGA-AD-6889-01 COSM1408593 c.2742+2T>C p.? Unknown 2:54892658-54892658 + CSCC-11-T COSM4485265 c.2913C>T p.I971I Substitution - coding silent 2:54895331-54895331 + BD72T COSM5511716 c.124G>A p.G42R Substitution - Missense 2:54725185-54725185 + B105-1-Tumor COSM3933656 c.492C>A p.N164K Substitution - Missense 2:54820429-54820429 + 587332 COSM1205277 c.4523G>A p.R1508H Substitution - Missense 2:54957826-54957826 + TCGA-BS-A0UF-01 COSM1021746 c.3690A>G p.R1230R Substitution - coding silent 2:54928327-54928327 + TCGA-AP-A0LM-01 COSM1021748 c.4258C>A p.L1420I Substitution - Missense 2:54952638-54952638 + LUAD-S01302 COSM395990 c.5710G>A p.G1904R Substitution - Missense 2:54968240-54968240 + Au3 COSM5601409 c.2759G>A p.G920E Substitution - Missense 2:54894931-54894931 + TCGA-AP-A0LM-01 COSM1021743 c.3491C>A p.P1164H Substitution - Missense 2:54911035-54911035 + LIM1215 COSM4314310 c.4712C>T p.T1571M Substitution - Missense 2:54959120-54959120 + 2492721 COSM5719599 c.4004G>A p.R1335K Substitution - Missense 2:54928751-54928751 + C008 COSM5522589 c.2027G>A p.S676N Substitution - Missense 2:54866860-54866860 + LIM2405 COSM4642679 c.4385C>A p.S1462Y Substitution - Missense 2:54954055-54954055 + 587376 COSM1205280 c.3244A>C p.K1082Q Substitution - Missense 2:54903163-54903163 + Patient_2 COSM5044555 c.2321G>T p.G774V Substitution - Missense 2:54871582-54871582 + CSCC-20-T COSM4533395 c.1977G>A p.E659E Substitution - coding silent 2:54866810-54866810 + C086 COSM5530457 c.1748G>T p.G583V Substitution - Missense 2:54859624-54859624 + TCGA-E2-A1IG-01 COSM1483146 c.3648C>T p.F1216F Substitution - coding silent 2:54916908-54916908 + 33T COSM3714214 c.4260C>T p.L1420L Substitution - coding silent 2:54952640-54952640 + PD7250a COSM5775271 c.4963G>T p.G1655* Substitution - Nonsense 2:54960329-54960329 + YURAY COSM5397150 c.1069C>T p.H357Y Substitution - Missense 2:54847505-54847505 + CSCC-19-T COSM4537761 c.245G>A p.G82E Substitution - Missense 2:54813279-54813279 + SC_9047 COSM4655118 c.4901G>A p.R1634H Substitution - Missense 2:54960267-54960267 + ccRCC-4 COSM1661660 c.352G>T p.G118* Substitution - Nonsense 2:54813386-54813386 + SNU-C2B COSM3052780 c.3285delA p.K1096fs*47 Deletion - Frameshift 2:54903378-54903378 + OSCC-GB_00160111 COSM3714211 c.45G>T p.W15C Substitution - Missense 2:54725106-54725106 + PCSI_0111_Pa_P_526 COSM4808290 c.1546A>C p.T516P Substitution - Missense 2:54853744-54853744 + 1920_T COSM3962938 c.1344C>A p.S448R Substitution - Missense 2:54850118-54850118 + 17_tFL COSM4171180 c.2072delG p.R691fs*12 Deletion - Frameshift 2:54869201-54869201 + SJRHB003 COSM3738366 c.2532A>G p.Q844Q Substitution - coding silent 2:54891147-54891147 + CPCG0103-F1 COSM3396484 c.50A>T p.Y17F Substitution - Missense 2:54725111-54725111 + TCGA-AO-A03M-01 COSM3839693 c.3501C>G p.I1167M Substitution - Missense 2:54916761-54916761 + sysucc-771T COSM3758286 c.4995C>T p.D1665D Substitution - coding silent 2:54962549-54962549 + TCGA-D8-A1XQ-01 COSM3839694 c.3586G>A p.V1196I Substitution - Missense 2:54916846-54916846 + C008 COSM5522590 c.1568C>A p.S523* Substitution - Nonsense 2:54853766-54853766 + PT35 COSM5911633 c.2813C>T p.T938I Substitution - Missense 2:54894985-54894985 + TCGA-CA-6717-01 COSM1408591 c.2143C>T p.R715W Substitution - Missense 2:54869272-54869272 + EGC15 COSM1408596 c.3449delT p.F1152fs*10 Deletion - Frameshift 2:54910993-54910993 + CHC1211T COSM4954883 c.2055T>C p.Y685Y Substitution - coding silent 2:54869184-54869184 + TCGA-D1-A17Q-01 COSM1021745 c.3684C>T p.H1228H Substitution - coding silent 2:54928321-54928321 + PET151T COSM4963936 c.5120A>G p.N1707S Substitution - Missense 2:54962674-54962674 + HCT116 COSM1408596 c.3449delT p.F1152fs*10 Deletion - Frameshift 2:54910993-54910993 + sysucc-1370T COSM5471593 c.2983-8T>A p.? Unknown 2:54899633-54899633 + 587222 COSM1205274 c.689G>A p.R230H Substitution - Missense 2:54827729-54827729 + S00022 COSM5656493 c.86A>G p.Y29C Substitution - Missense 2:54725147-54725147 + TCGA-EK-A2RN-01 COSM4823087 c.1177C>G p.L393V Substitution - Missense 2:54847613-54847613 + TCGA-B5-A0JY-01 COSM1021752 c.4993G>T p.D1665Y Substitution - Missense 2:54962547-54962547 + PD3181a COSM1659077 c.4812C>G p.T1604T Substitution - coding silent 2:54959220-54959220 + ATL001 COSM5708254 c.4504C>T p.R1502* Substitution - Nonsense 2:54957807-54957807 + TCGA-B5-A11G-01 COSM1021728 c.921A>G p.E307E Substitution - coding silent 2:54844120-54844120 + TCGA-B5-A11E-01 COSM1021756 c.5276G>A p.S1759N Substitution - Missense 2:54964104-54964104 + STC252 COSM5058956 c.4836C>T p.T1612T Substitution - coding silent 2:54959244-54959244 + CHC801T COSM4953368 c.3475C>G p.R1159G Substitution - Missense 2:54911019-54911019 + TCGA-F5-6814-01 COSM3426542 c.5251G>A p.E1751K Substitution - Missense 2:54964079-54964079 + CHC1604T COSM4787843 c.4756C>T p.L1586F Substitution - Missense 2:54959164-54959164 + CHC1081T COSM4791191 c.2849C>G p.S950* Substitution - Nonsense 2:54895021-54895021 + C84 COSM4620159 c.2179G>A p.D727N Substitution - Missense 2:54869308-54869308 + PD11340a COSM5772904 c.184G>A p.D62N Substitution - Missense 2:54725245-54725245 + TCGA-AP-A0LM-01 COSM1021757 c.5515C>T p.R1839C Substitution - Missense 2:54967021-54967021 + BD166T COSM5494626 c.3804G>A p.R1268R Substitution - coding silent 2:54928441-54928441 + 587376 COSM1205278 c.407A>T p.D136V Substitution - Missense 2:54816836-54816836 + SW48 COSM4615998 c.1978delA p.N661fs*17 Deletion - Frameshift 2:54866811-54866811 + sysucc-1173T COSM5459676 c.2982+10G>A p.? Unknown 2:54895410-54895410 + TCGA-A8-A08S-01 COSM1483145 c.1846A>G p.S616G Substitution - Missense 2:54863803-54863803 + PTC-28C COSM4133868 c.5037C>A p.N1679K Substitution - Missense 2:54962591-54962591 + TCGA-CA-6717-01 COSM1408599 c.4071G>T p.K1357N Substitution - Missense 2:54948948-54948948 + CHC1601T COSM4805154 c.4641C>T p.I1547I Substitution - coding silent 2:54957944-54957944 + TCGA-A2-A0D1-01 COSM443025 c.2712G>T p.G904G Substitution - coding silent 2:54892626-54892626 + TCGA-D8-A27G-01 COSM3839696 c.5158-1G>A p.? Unknown 2:54963985-54963985 + CHC1211T COSM4954883 c.2055T>C p.Y685Y Substitution - coding silent 2:54869184-54869184 + Au2 COSM5599466 c.3076G>T p.E1026* Substitution - Nonsense 2:54899734-54899734 + pfg062T COSM4755586 c.778C>T p.R260* Substitution - Nonsense 2:54829408-54829408 + SC_9107 COSM5558275 c.2414A>G p.K805R Substitution - Missense 2:54879616-54879616 + TCGA-BS-A0UF-01 COSM1021759 c.5867G>A p.R1956Q Substitution - Missense 2:54970085-54970085 + TCGA-B5-A0JV-01 COSM1021754 c.5169C>T p.N1723N Substitution - coding silent 2:54963997-54963997 + YUOMEGA COSM5397153 c.2822T>A p.I941N Substitution - Missense 2:54894994-54894994 + TCGA-EI-6885-01 COSM3426541 c.5218G>A p.G1740R Substitution - Missense 2:54964046-54964046 + TCGA-A5-A0VQ-01 COSM1021727 c.870C>T p.C290C Substitution - coding silent 2:54844069-54844069 + SNUH_G73_S1 COSM4416100 c.1932+3C>T p.? Unknown 2:54863892-54863892 + C086 COSM5530460 c.1482G>A p.G494G Substitution - coding silent 2:54853680-54853680 + TCGA-D1-A17Q-01 COSM1021742 c.3374C>A p.S1125Y Substitution - Missense 2:54903467-54903467 + sysucc-311T COSM5465584 c.3317T>C p.F1106S Substitution - Missense 2:54903410-54903410 + 16T COSM3714211 c.45G>T p.W15C Substitution - Missense 2:54725106-54725106 + CSCC-7-T COSM4478719 c.2260C>T p.H754Y Substitution - Missense 2:54871521-54871521 + C086 COSM5530455 c.1481G>A p.G494E Substitution - Missense 2:54853679-54853679 + TCGA-AP-A059-01 COSM1021744 c.3535C>A p.L1179M Substitution - Missense 2:54916795-54916795 + CSB1 COSM5025630 c.3507G>C p.K1169N Substitution - Missense 2:54916767-54916767 + OSCC-GB_00670111 COSM4883876 c.2347G>A p.D783N Substitution - Missense 2:54879549-54879549 + TCGA-DM-A28H-01 COSM1408597 c.4019G>A p.R1340Q Substitution - Missense 2:54948896-54948896 + 1027T COSM4963873 c.582A>G p.T194T Substitution - coding silent 2:54827622-54827622 + T20 COSM1408597 c.4019G>A p.R1340Q Substitution - Missense 2:54948896-54948896 + TCGA-AP-A0LM-01 COSM1021747 c.3935C>T p.A1312V Substitution - Missense 2:54928682-54928682 + PTC_179 COSM5558275 c.2414A>G p.K805R Substitution - Missense 2:54879616-54879616 + 587376 COSM1205279 c.2412A>C p.K804N Substitution - Missense 2:54879614-54879614 + 587222 COSM1205275 c.2522A>C p.K841T Substitution - Missense 2:54891137-54891137 + A9 COSM5350843 c.4254C>T p.L1418L Substitution - coding silent 2:54952634-54952634 + STC291 COSM1408596 c.3449delT p.F1152fs*10 Deletion - Frameshift 2:54910993-54910993 + 587376 COSM1205281 c.4130G>A p.R1377Q Substitution - Missense 2:54950696-54950696 + TCGA-BS-A0UV-01 COSM1021723 c.165A>C p.K55N Substitution - Missense 2:54725226-54725226 + TCGA-AP-A0LM-01 COSM1021755 c.5251G>T p.E1751* Substitution - Nonsense 2:54964079-54964079 + 2492700 COSM5599466 c.3076G>T p.E1026* Substitution - Nonsense 2:54899734-54899734 + CSCC-18-T COSM4471444 c.171C>T p.F57F Substitution - coding silent 2:54725232-54725232 + TCGA-A6-6780-01 COSM1408598 c.4063delA p.K1357fs*9 Deletion - Frameshift 2:54948940-54948940 + AOCS-153-1-2 COSM4141159 c.4104G>A p.V1368V Substitution - coding silent 2:54950670-54950670 + 2492722 COSM5719599 c.4004G>A p.R1335K Substitution - Missense 2:54928751-54928751 + TCGA-AC-A23H-01 COSM3839691 c.766G>C p.D256H Substitution - Missense 2:54829396-54829396 + BD49T COSM5497625 c.3262A>G p.I1088V Substitution - Missense 2:54903181-54903181 + CPCG0103-P2 COSM3396484 c.50A>T p.Y17F Substitution - Missense 2:54725111-54725111 + 2492721 COSM5719598 c.798C>T p.F266F Substitution - coding silent 2:54829428-54829428 + B65-Tumor COSM3933657 c.5366C>T p.S1789F Substitution - Missense 2:54964606-54964606 + TCGA-D1-A16X-01 COSM1021758 c.5750T>G p.F1917C Substitution - Missense 2:54968280-54968280 + LOVO COSM3052793 c.3712A>C p.S1238R Substitution - Missense 2:54928349-54928349 + 8014187 COSM3391786 c.4045C>G p.Q1349E Substitution - Missense 2:54948922-54948922 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.656689;Hs.656690;Hs.656691;Hs.656692 2p16.1

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C Missense p.T516P c.1546A>C 2 55080881 PAAD A - Frameshift p.K1357Rfs*9 c.4070delA 2 55176077 STAD A G IntronicSNV . c.197+42720A>G 2 54995115 CLL A G IntronicSNV . c.2052-452A>G 2 55095866 HC A G Missense p.S616G c.1846A>G 2 55090940 BRCA A G Synonymous p.E307E c.921A>G 2 55071257 UCEC A T Missense p.Q759L c.2276A>T 2 55098674 UCEC C A Missense p.L197I c.589C>A 2 55054766 MB C G Missense p.D520E c.1560C>G 2 55080895 BRCA C T Missense p.R1712W c.5134C>T 2 55189824 UCEC C T Synonymous p.C111C c.333C>T 2 55040504 UCEC C T Synonymous p.C290C c.870C>T 2 55071206 UCEC C T Synonymous p.D728D c.2184C>T 2 55096450 UCEC C T Synonymous p.F1216F c.3648C>T 2 55144045 BRCA C T Synonymous p.G1613G c.4839C>T 2 55186384 UCEC G A IntronicSNV . c.2052-158G>A 2 55096160 MB G A Missense p.A663T c.1987G>A 2 55093957 BRCA G C Missense p.K1169N c.3507G>C 2 55143904 BRCA G T Missense p.G1373C c.4117G>T 2 55177820 RCCC G T Synonymous p.G904G c.2712G>T 2 55119763 BRCA T A Missense p.V1890E c.5669T>A 2 55195335 RCCC T C IntronicSNV . c.2051+880T>C 2 55094901 HC T C Missense p.F1374L c.4120T>C 2 55177823 RCCC T C Missense p.L679P c.2036T>C 2 55094006 BRCA