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 10 49984802 49984802 single base substitution G A synonymous_variant Q957Q 2871G>A BLCA-CN 10 50038800 50038800 single base substitution A G 3_prime_UTR_variant BLCA-CN 10 50038800 50038800 single base substitution A G synonymous_variant Q2132Q 6396A>G BLCA-CN 10 50038800 50038800 single base substitution A G synonymous_variant Q218Q 654A>G BOCA-FR 10 49924681 49924681 single base substitution A T intron_variant BOCA-UK 10 49934022 49934022 single base substitution G A missense_variant E230K 688G>A BRCA-EU 10 49889550 49889550 single base substitution A C upstream_gene_variant BRCA-EU 10 49890580 49890580 single base substitution G C upstream_gene_variant BRCA-EU 10 49890603 49890603 single base substitution C G upstream_gene_variant BRCA-EU 10 49890681 49890681 single base substitution C T upstream_gene_variant BRCA-EU 10 49890725 49890725 single base substitution T C upstream_gene_variant BRCA-EU 10 49891159 49891159 single base substitution G A upstream_gene_variant BRCA-EU 10 49891802 49891802 single base substitution G A upstream_gene_variant BRCA-EU 10 49892914 49892914 single base substitution A G upstream_gene_variant BRCA-EU 10 49893406 49893406 single base substitution C T intron_variant BRCA-EU 10 49893410 49893410 single base substitution C T intron_variant BRCA-EU 10 49893481 49893481 single base substitution A T intron_variant BRCA-EU 10 49897540 49897540 single base substitution A C intron_variant BRCA-EU 10 49897838 49897838 single base substitution T C intron_variant BRCA-EU 10 49898158 49898158 single base substitution C T intron_variant BRCA-EU 10 49898400 49898400 single base substitution A T intron_variant BRCA-EU 10 49899047 49899047 single base substitution C T intron_variant BRCA-EU 10 49900300 49900300 single base substitution C G intron_variant BRCA-EU 10 49900515 49900515 single base substitution C G intron_variant BRCA-EU 10 49901113 49901113 single base substitution G A intron_variant BRCA-EU 10 49901671 49901671 single base substitution C T intron_variant BRCA-EU 10 49903298 49903298 single base substitution G A intron_variant BRCA-EU 10 49903329 49903329 single base substitution G A intron_variant BRCA-EU 10 49904013 49904013 single base substitution G A intron_variant BRCA-EU 10 49904143 49904143 single base substitution C G intron_variant BRCA-EU 10 49904537 49904537 single base substitution C T intron_variant BRCA-EU 10 49904561 49904561 single base substitution A G intron_variant BRCA-EU 10 49905625 49905625 single base substitution T C intron_variant BRCA-EU 10 49906331 49906331 single base substitution C G intron_variant BRCA-EU 10 49906784 49906784 single base substitution G A intron_variant BRCA-EU 10 49908436 49908436 single base substitution C G intron_variant BRCA-EU 10 49908736 49908736 single base substitution G T intron_variant BRCA-EU 10 49910472 49910472 single base substitution T G intron_variant BRCA-EU 10 49911285 49911285 single base substitution C T intron_variant BRCA-EU 10 49911606 49911606 single base substitution C T intron_variant BRCA-EU 10 49912362 49912362 single base substitution G T intron_variant BRCA-EU 10 49913432 49913432 single base substitution C T intron_variant BRCA-EU 10 49913432 49913432 single base substitution C T upstream_gene_variant BRCA-EU 10 49914330 49914330 single base substitution C A intron_variant BRCA-EU 10 49914330 49914330 single base substitution C A upstream_gene_variant BRCA-EU 10 49914591 49914591 insertion of <=200bp - A intron_variant BRCA-EU 10 49914591 49914591 insertion of <=200bp - A upstream_gene_variant BRCA-EU 10 49915175 49915175 single base substitution A C intron_variant BRCA-EU 10 49915175 49915175 single base substitution A C upstream_gene_variant BRCA-EU 10 49916473 49916473 single base substitution C G intron_variant BRCA-EU 10 49916473 49916473 single base substitution C G upstream_gene_variant BRCA-EU 10 49919311 49919311 single base substitution T A intron_variant BRCA-EU 10 49919344 49919344 single base substitution C T intron_variant BRCA-EU 10 49919393 49919393 single base substitution C A intron_variant BRCA-EU 10 49920187 49920187 single base substitution C G intron_variant BRCA-EU 10 49920461 49920461 single base substitution C A intron_variant BRCA-EU 10 49920558 49920558 single base substitution T A intron_variant BRCA-EU 10 49921313 49921313 single base substitution C G intron_variant BRCA-EU 10 49921713 49921713 single base substitution A G intron_variant BRCA-EU 10 49922616 49922616 single base substitution G A intron_variant BRCA-EU 10 49923104 49923104 single base substitution G A intron_variant BRCA-EU 10 49924409 49924409 single base substitution T C intron_variant BRCA-EU 10 49925504 49925504 single base substitution T A intron_variant BRCA-EU 10 49927451 49927451 single base substitution G A intron_variant BRCA-EU 10 49928242 49928242 single base substitution C T intron_variant BRCA-EU 10 49928260 49928260 single base substitution C T intron_variant BRCA-EU 10 49928851 49928851 single base substitution C G intron_variant BRCA-EU 10 49929120 49929120 single base substitution A C intron_variant BRCA-EU 10 49930404 49930404 single base substitution C A intron_variant BRCA-EU 10 49931243 49931243 single base substitution C G intron_variant BRCA-EU 10 49932284 49932284 single base substitution C T intron_variant BRCA-EU 10 49933658 49933658 single base substitution C T intron_variant BRCA-EU 10 49933719 49933719 single base substitution G A intron_variant BRCA-EU 10 49934947 49934947 single base substitution C G intron_variant BRCA-EU 10 49935046 49935046 single base substitution C A intron_variant BRCA-EU 10 49935326 49935326 single base substitution G C intron_variant BRCA-EU 10 49935438 49935438 single base substitution G T intron_variant BRCA-EU 10 49935725 49935725 single base substitution C T intron_variant BRCA-EU 10 49936734 49936734 single base substitution C T intron_variant BRCA-EU 10 49936961 49936961 single base substitution C T intron_variant BRCA-EU 10 49938880 49938880 single base substitution C T intron_variant BRCA-EU 10 49939078 49939078 single base substitution C T intron_variant BRCA-EU 10 49939587 49939587 single base substitution C T missense_variant A521V 1562C>T BRCA-EU 10 49940065 49940065 single base substitution C T intron_variant BRCA-EU 10 49940250 49940250 single base substitution C G intron_variant BRCA-EU 10 49940468 49940468 single base substitution C G intron_variant BRCA-EU 10 49940904 49940904 single base substitution C A intron_variant BRCA-EU 10 49941007 49941007 single base substitution T C intron_variant BRCA-EU 10 49942397 49942397 deletion of <=200bp T - intron_variant BRCA-EU 10 49943116 49943116 single base substitution G A intron_variant BRCA-EU 10 49943482 49943482 single base substitution G T intron_variant BRCA-EU 10 49944788 49944788 single base substitution G C downstream_gene_variant BRCA-EU 10 49944788 49944788 single base substitution G C intron_variant BRCA-EU 10 49944793 49944793 single base substitution C A downstream_gene_variant BRCA-EU 10 49944793 49944793 single base substitution C A intron_variant BRCA-EU 10 49944794 49944794 single base substitution A T downstream_gene_variant BRCA-EU 10 49944794 49944794 single base substitution A T intron_variant BRCA-EU 10 49945192 49945192 single base substitution C T downstream_gene_variant BRCA-EU 10 49945192 49945192 single base substitution C T intron_variant BRCA-EU 10 49945306 49945306 single base substitution C T downstream_gene_variant BRCA-EU 10 49945306 49945306 single base substitution C T intron_variant BRCA-EU 10 49946017 49946017 single base substitution G A downstream_gene_variant BRCA-EU 10 49946017 49946017 single base substitution G A intron_variant BRCA-EU 10 49946029 49946029 single base substitution T C downstream_gene_variant BRCA-EU 10 49946029 49946029 single base substitution T C intron_variant BRCA-EU 10 49946075 49946075 single base substitution C G downstream_gene_variant BRCA-EU 10 49946075 49946075 single base substitution C G intron_variant BRCA-EU 10 49946811 49946811 single base substitution C G downstream_gene_variant BRCA-EU 10 49946811 49946811 single base substitution C G intron_variant BRCA-EU 10 49947191 49947191 single base substitution A C downstream_gene_variant BRCA-EU 10 49947191 49947191 single base substitution A C intron_variant BRCA-EU 10 49948169 49948169 single base substitution T A downstream_gene_variant BRCA-EU 10 49948169 49948169 single base substitution T A intron_variant BRCA-EU 10 49948376 49948376 single base substitution G A downstream_gene_variant BRCA-EU 10 49948376 49948376 single base substitution G A intron_variant BRCA-EU 10 49949250 49949250 single base substitution G C downstream_gene_variant BRCA-EU 10 49949250 49949250 single base substitution G C intron_variant BRCA-EU 10 49950089 49950089 single base substitution C G intron_variant BRCA-EU 10 49950289 49950289 single base substitution T C intron_variant BRCA-EU 10 49950586 49950586 single base substitution A G intron_variant BRCA-EU 10 49951328 49951328 single base substitution C T missense_variant R732C 2194C>T BRCA-EU 10 49951489 49951489 single base substitution G T missense_variant K785N 2355G>T BRCA-EU 10 49952060 49952060 single base substitution T C intron_variant BRCA-EU 10 49952670 49952670 single base substitution C G intron_variant BRCA-EU 10 49954669 49954669 deletion of <=200bp A - intron_variant BRCA-EU 10 49955314 49955314 single base substitution C G intron_variant BRCA-EU 10 49956621 49956621 single base substitution G C intron_variant BRCA-EU 10 49956730 49956730 deletion of <=200bp T - intron_variant BRCA-EU 10 49960008 49960008 single base substitution C T intron_variant BRCA-EU 10 49960320 49960320 single base substitution T C intron_variant BRCA-EU 10 49960589 49960589 single base substitution T A intron_variant BRCA-EU 10 49961154 49961154 single base substitution C G intron_variant BRCA-EU 10 49961229 49961229 single base substitution C G intron_variant BRCA-EU 10 49963200 49963200 single base substitution A G intron_variant BRCA-EU 10 49963447 49963447 single base substitution T A intron_variant BRCA-EU 10 49963941 49963941 single base substitution G C intron_variant BRCA-EU 10 49964217 49964217 single base substitution T C intron_variant BRCA-EU 10 49964763 49964763 single base substitution C T intron_variant BRCA-EU 10 49965684 49965684 insertion of <=200bp - T intron_variant BRCA-EU 10 49965884 49965884 deletion of <=200bp T - intron_variant BRCA-EU 10 49965895 49965895 single base substitution C G intron_variant BRCA-EU 10 49966163 49966163 single base substitution A G intron_variant BRCA-EU 10 49967428 49967428 single base substitution C A intron_variant BRCA-EU 10 49968691 49968691 single base substitution C T intron_variant BRCA-EU 10 49969347 49969347 single base substitution C G intron_variant BRCA-EU 10 49971355 49971355 single base substitution C T intron_variant BRCA-EU 10 49971963 49971963 single base substitution G T intron_variant BRCA-EU 10 49971964 49971964 single base substitution A T intron_variant BRCA-EU 10 49972058 49972058 single base substitution A T intron_variant BRCA-EU 10 49973500 49973500 single base substitution G C intron_variant BRCA-EU 10 49973839 49973839 single base substitution C T intron_variant BRCA-EU 10 49973873 49973873 single base substitution G T intron_variant BRCA-EU 10 49974642 49974642 single base substitution A C intron_variant BRCA-EU 10 49974934 49974934 single base substitution C T intron_variant BRCA-EU 10 49976487 49976487 single base substitution T A intron_variant BRCA-EU 10 49976691 49976691 single base substitution G C intron_variant BRCA-EU 10 49976727 49976727 single base substitution G C intron_variant BRCA-EU 10 49977341 49977341 single base substitution T C intron_variant BRCA-EU 10 49978362 49978362 single base substitution G A intron_variant BRCA-EU 10 49980846 49980846 single base substitution G T intron_variant BRCA-EU 10 49981046 49981046 single base substitution A G intron_variant BRCA-EU 10 49983794 49983794 single base substitution G T missense_variant A936S 2806G>T BRCA-EU 10 49984777 49984777 single base substitution T C intron_variant BRCA-EU 10 49985252 49985252 single base substitution G A intron_variant BRCA-EU 10 49985646 49985646 single base substitution C T intron_variant BRCA-EU 10 49985933 49985933 single base substitution C T intron_variant BRCA-EU 10 49986046 49986046 single base substitution G A intron_variant BRCA-EU 10 49986069 49986069 single base substitution C G intron_variant BRCA-EU 10 49987287 49987287 single base substitution C T intron_variant BRCA-EU 10 49987342 49987342 single base substitution C T intron_variant BRCA-EU 10 49987854 49987854 single base substitution T A intron_variant BRCA-EU 10 49989549 49989549 single base substitution C T intron_variant BRCA-EU 10 49989677 49989677 single base substitution G T intron_variant BRCA-EU 10 49989684 49989684 single base substitution C T intron_variant BRCA-EU 10 49990134 49990134 single base substitution G C intron_variant BRCA-EU 10 49990519 49990519 single base substitution T C intron_variant BRCA-EU 10 49990549 49990549 single base substitution T A intron_variant BRCA-EU 10 49991211 49991211 single base substitution C T intron_variant BRCA-EU 10 49992989 49992989 single base substitution G A intron_variant BRCA-EU 10 49993324 49993324 single base substitution G A intron_variant BRCA-EU 10 49993509 49993509 single base substitution C A intron_variant BRCA-EU 10 49993635 49993635 single base substitution C T intron_variant BRCA-EU 10 49994355 49994355 single base substitution A T intron_variant BRCA-EU 10 49996510 49996510 single base substitution G C intron_variant BRCA-EU 10 49997373 49997373 single base substitution G A intron_variant BRCA-EU 10 49998825 49998825 single base substitution G A intron_variant BRCA-EU 10 49998825 49998825 single base substitution G A missense_variant G1374R 4120G>A BRCA-EU 10 49998836 49998836 single base substitution C T intron_variant BRCA-EU 10 49998836 49998836 single base substitution C T synonymous_variant I1377I 4131C>T BRCA-EU 10 50000690 50000690 single base substitution C T intron_variant BRCA-EU 10 50000824 50000824 single base substitution C T intron_variant BRCA-EU 10 50002056 50002056 single base substitution C A intron_variant BRCA-EU 10 50002290 50002290 single base substitution C A intron_variant BRCA-EU 10 50004034 50004034 single base substitution C T intron_variant BRCA-EU 10 50006050 50006050 single base substitution A C intron_variant BRCA-EU 10 50006050 50006050 single base substitution A C upstream_gene_variant BRCA-EU 10 50006366 50006366 insertion of <=200bp - A intron_variant BRCA-EU 10 50006366 50006366 insertion of <=200bp - A upstream_gene_variant BRCA-EU 10 50007754 50007754 single base substitution G T intron_variant BRCA-EU 10 50007754 50007754 single base substitution G T upstream_gene_variant BRCA-EU 10 50007814 50007814 single base substitution G A intron_variant BRCA-EU 10 50007814 50007814 single base substitution G A upstream_gene_variant BRCA-EU 10 50007941 50007941 deletion of <=200bp T - intron_variant BRCA-EU 10 50007941 50007941 deletion of <=200bp T - upstream_gene_variant BRCA-EU 10 50008202 50008202 single base substitution T A intron_variant BRCA-EU 10 50008202 50008202 single base substitution T A upstream_gene_variant BRCA-EU 10 50008220 50008220 single base substitution C T intron_variant BRCA-EU 10 50008220 50008220 single base substitution C T upstream_gene_variant BRCA-EU 10 50008448 50008448 single base substitution G A intron_variant BRCA-EU 10 50008448 50008448 single base substitution G A upstream_gene_variant BRCA-EU 10 50009479 50009479 single base substitution C T intron_variant BRCA-EU 10 50009479 50009479 single base substitution C T upstream_gene_variant BRCA-EU 10 50010441 50010441 single base substitution A C intron_variant BRCA-EU 10 50010441 50010441 single base substitution A C upstream_gene_variant BRCA-EU 10 50010487 50010487 single base substitution C T intron_variant BRCA-EU 10 50010487 50010487 single base substitution C T upstream_gene_variant BRCA-EU 10 50012456 50012456 single base substitution C T intron_variant BRCA-EU 10 50012684 50012684 single base substitution C T intron_variant BRCA-EU 10 50014346 50014346 single base substitution G A intron_variant BRCA-EU 10 50016867 50016867 single base substitution G A intron_variant BRCA-EU 10 50018045 50018045 single base substitution G C intron_variant BRCA-EU 10 50018303 50018303 single base substitution G A intron_variant BRCA-EU 10 50018696 50018696 single base substitution C T 3_prime_UTR_variant BRCA-EU 10 50018696 50018696 single base substitution C T missense_variant P1654S 4960C>T BRCA-EU 10 50018696 50018696 single base substitution C T missense_variant P200S 598C>T BRCA-EU 10 50019012 50019012 single base substitution A T intron_variant BRCA-EU 10 50020481 50020481 single base substitution C G intron_variant BRCA-EU 10 50021469 50021469 single base substitution T C intron_variant BRCA-EU 10 50021513 50021513 single base substitution G T intron_variant BRCA-EU 10 50021988 50021988 single base substitution G T intron_variant BRCA-EU 10 50025870 50025870 single base substitution C T intron_variant BRCA-EU 10 50025870 50025870 single base substitution C T upstream_gene_variant BRCA-EU 10 50026168 50026168 single base substitution G A intron_variant BRCA-EU 10 50026168 50026168 single base substitution G A upstream_gene_variant BRCA-EU 10 50027019 50027019 single base substitution C T intron_variant BRCA-EU 10 50027019 50027019 single base substitution C T upstream_gene_variant BRCA-EU 10 50027560 50027560 single base substitution G T intron_variant BRCA-EU 10 50027560 50027560 single base substitution G T upstream_gene_variant BRCA-EU 10 50028113 50028113 single base substitution T G intron_variant BRCA-EU 10 50028113 50028113 single base substitution T G upstream_gene_variant BRCA-EU 10 50028373 50028373 single base substitution C A 3_prime_UTR_variant BRCA-EU 10 50028373 50028373 single base substitution C A missense_variant A1867E 5600C>A BRCA-EU 10 50028373 50028373 single base substitution C A missense_variant A413E 1238C>A BRCA-EU 10 50028373 50028373 single base substitution C A upstream_gene_variant BRCA-EU 10 50028381 50028381 single base substitution G A 3_prime_UTR_variant BRCA-EU 10 50028381 50028381 single base substitution G A missense_variant A1870T 5608G>A BRCA-EU 10 50028381 50028381 single base substitution G A missense_variant A416T 1246G>A BRCA-EU 10 50028381 50028381 single base substitution G A upstream_gene_variant BRCA-EU 10 50028890 50028890 single base substitution C T intron_variant BRCA-EU 10 50028890 50028890 single base substitution C T upstream_gene_variant BRCA-EU 10 50029011 50029011 single base substitution C T intron_variant BRCA-EU 10 50029011 50029011 single base substitution C T upstream_gene_variant BRCA-EU 10 50029556 50029556 single base substitution G A intron_variant BRCA-EU 10 50029799 50029799 single base substitution C G intron_variant BRCA-EU 10 50029918 50029918 single base substitution A G intron_variant BRCA-EU 10 50030003 50030003 single base substitution A T intron_variant BRCA-EU 10 50030319 50030319 single base substitution A T intron_variant BRCA-EU 10 50032104 50032104 single base substitution C T 3_prime_UTR_variant BRCA-EU 10 50032104 50032104 single base substitution C T intron_variant BRCA-EU 10 50032139 50032139 single base substitution A T 3_prime_UTR_variant BRCA-EU 10 50032139 50032139 single base substitution A T intron_variant BRCA-EU 10 50032239 50032239 single base substitution G C downstream_gene_variant BRCA-EU 10 50032239 50032239 single base substitution G C intron_variant BRCA-EU 10 50032573 50032573 insertion of <=200bp - T downstream_gene_variant BRCA-EU 10 50032573 50032573 insertion of <=200bp - T intron_variant BRCA-EU 10 50032852 50032852 deletion of <=200bp T - downstream_gene_variant BRCA-EU 10 50032852 50032852 deletion of <=200bp T - intron_variant BRCA-EU 10 50032940 50032940 single base substitution C A downstream_gene_variant BRCA-EU 10 50032940 50032940 single base substitution C A intron_variant BRCA-EU 10 50035052 50035052 single base substitution G A downstream_gene_variant BRCA-EU 10 50035052 50035052 single base substitution G A intron_variant BRCA-EU 10 50036276 50036276 single base substitution A T downstream_gene_variant BRCA-EU 10 50036276 50036276 single base substitution A T intron_variant BRCA-EU 10 50036667 50036667 single base substitution C G downstream_gene_variant BRCA-EU 10 50036667 50036667 single base substitution C G intron_variant BRCA-EU 10 50037326 50037326 single base substitution T C intron_variant BRCA-EU 10 50039743 50039743 single base substitution C A intron_variant BRCA-EU 10 50040694 50040694 single base substitution G C 3_prime_UTR_variant BRCA-EU 10 50040694 50040694 single base substitution G C synonymous_variant L2201L 6603G>C BRCA-EU 10 50040694 50040694 single base substitution G C synonymous_variant L287L 861G>C BRCA-EU 10 50042088 50042088 single base substitution T C intron_variant BRCA-EU 10 50044390 50044390 single base substitution A T intron_variant BRCA-EU 10 50044601 50044601 single base substitution T C intron_variant BRCA-EU 10 50045727 50045727 single base substitution G T intron_variant BRCA-EU 10 50046022 50046022 single base substitution G A intron_variant BRCA-EU 10 50046187 50046187 single base substitution G T intron_variant BRCA-EU 10 50046300 50046300 single base substitution T A intron_variant BRCA-EU 10 50046646 50046646 insertion of <=200bp - ATAT intron_variant BRCA-EU 10 50048124 50048124 single base substitution G T intron_variant BRCA-EU 10 50049754 50049754 single base substitution C G intron_variant BRCA-EU 10 50049816 50049816 single base substitution C T intron_variant BRCA-EU 10 50049964 50049964 single base substitution C A intron_variant BRCA-EU 10 50050351 50050351 single base substitution A G intron_variant BRCA-EU 10 50050444 50050444 single base substitution G T intron_variant BRCA-EU 10 50051632 50051632 single base substitution C T intron_variant BRCA-EU 10 50052255 50052255 single base substitution G C intron_variant BRCA-EU 10 50052711 50052711 single base substitution C T intron_variant BRCA-EU 10 50053612 50053612 single base substitution A T intron_variant BRCA-EU 10 50054191 50054191 single base substitution G T intron_variant BRCA-EU 10 50054885 50054885 single base substitution C A intron_variant BRCA-EU 10 50055386 50055386 single base substitution C T intron_variant BRCA-EU 10 50055818 50055818 deletion of <=200bp T - intron_variant BRCA-EU 10 50055986 50055986 single base substitution G A intron_variant BRCA-EU 10 50056159 50056159 single base substitution C G intron_variant BRCA-EU 10 50056573 50056573 single base substitution C G intron_variant BRCA-EU 10 50057193 50057193 deletion of <=200bp C - intron_variant BRCA-EU 10 50058194 50058194 single base substitution C G intron_variant BRCA-EU 10 50059294 50059294 single base substitution G C intron_variant BRCA-EU 10 50060119 50060119 single base substitution G T intron_variant BRCA-EU 10 50060379 50060379 single base substitution C A intron_variant BRCA-EU 10 50061231 50061231 single base substitution C G intron_variant BRCA-EU 10 50061984 50061984 single base substitution C A intron_variant BRCA-EU 10 50062317 50062317 single base substitution C T intron_variant BRCA-EU 10 50063001 50063001 single base substitution T A intron_variant BRCA-EU 10 50063574 50063574 single base substitution C G intron_variant BRCA-EU 10 50064031 50064031 single base substitution C G intron_variant BRCA-EU 10 50065016 50065016 single base substitution C T intron_variant BRCA-EU 10 50065146 50065146 single base substitution G T intron_variant BRCA-EU 10 50065589 50065589 single base substitution G A intron_variant BRCA-EU 10 50065852 50065852 single base substitution T A intron_variant BRCA-EU 10 50066131 50066131 single base substitution G A intron_variant BRCA-EU 10 50066249 50066249 single base substitution C T intron_variant BRCA-EU 10 50067021 50067021 single base substitution T A intron_variant BRCA-EU 10 50067024 50067024 single base substitution T A intron_variant BRCA-EU 10 50067657 50067657 single base substitution C T intron_variant BRCA-EU 10 50068964 50068964 deletion of <=200bp T - intron_variant BRCA-EU 10 50069809 50069809 deletion of <=200bp T - intron_variant BRCA-EU 10 50070516 50070516 single base substitution C G intron_variant BRCA-EU 10 50070589 50070589 single base substitution C A intron_variant BRCA-EU 10 50071297 50071297 single base substitution C A intron_variant BRCA-EU 10 50071402 50071402 single base substitution T C intron_variant BRCA-EU 10 50072287 50072287 deletion of <=200bp T - intron_variant BRCA-EU 10 50072704 50072704 single base substitution G A intron_variant BRCA-EU 10 50073767 50073767 single base substitution G A intron_variant BRCA-EU 10 50073866 50073866 single base substitution C G intron_variant BRCA-EU 10 50074195 50074195 single base substitution C T intron_variant BRCA-EU 10 50074243 50074243 deletion of <=200bp T - intron_variant BRCA-EU 10 50074864 50074864 single base substitution C G intron_variant BRCA-EU 10 50076228 50076228 deletion of <=200bp A - intron_variant BRCA-EU 10 50076682 50076682 deletion of <=200bp G - intron_variant BRCA-EU 10 50076898 50076898 single base substitution G T intron_variant BRCA-EU 10 50077474 50077474 single base substitution C A intron_variant BRCA-EU 10 50077490 50077490 single base substitution G A intron_variant BRCA-EU 10 50078401 50078401 single base substitution C T intron_variant BRCA-EU 10 50078611 50078611 single base substitution A G intron_variant BRCA-EU 10 50079637 50079637 single base substitution C T intron_variant BRCA-EU 10 50080283 50080283 insertion of <=200bp - T intron_variant BRCA-EU 10 50080822 50080822 single base substitution G A intron_variant BRCA-EU 10 50081452 50081452 single base substitution T G intron_variant BRCA-EU 10 50081556 50081556 single base substitution C G 3_prime_UTR_variant BRCA-EU 10 50081556 50081556 single base substitution C G missense_variant I2254M 6762C>G BRCA-EU 10 50081556 50081556 single base substitution C G missense_variant I340M 1020C>G BRCA-EU 10 50082694 50082694 insertion of <=200bp - A intron_variant BRCA-EU 10 50082711 50082711 insertion of <=200bp - A intron_variant BRCA-EU 10 50082941 50082941 single base substitution T C intron_variant BRCA-EU 10 50082942 50082942 single base substitution C T intron_variant BRCA-EU 10 50083406 50083406 single base substitution A T intron_variant BRCA-EU 10 50083473 50083473 single base substitution T A intron_variant BRCA-EU 10 50084922 50084922 single base substitution C T intron_variant BRCA-EU 10 50085202 50085202 single base substitution G C 3_prime_UTR_variant BRCA-EU 10 50085202 50085202 single base substitution G C synonymous_variant R2375R 7125G>C BRCA-EU 10 50085202 50085202 single base substitution G C synonymous_variant R461R 1383G>C BRCA-EU 10 50085347 50085347 single base substitution T A intron_variant BRCA-EU 10 50087076 50087076 single base substitution C A intron_variant BRCA-EU 10 50087422 50087422 single base substitution G T intron_variant BRCA-EU 10 50090258 50090258 single base substitution C A intron_variant BRCA-EU 10 50091208 50091208 single base substitution C T intron_variant BRCA-EU 10 50091496 50091496 single base substitution G T intron_variant BRCA-EU 10 50092024 50092024 single base substitution A C intron_variant BRCA-EU 10 50092989 50092989 single base substitution T C intron_variant BRCA-EU 10 50093255 50093255 single base substitution T A intron_variant BRCA-EU 10 50093432 50093432 single base substitution A G intron_variant BRCA-EU 10 50093780 50093780 insertion of <=200bp - TA intron_variant BRCA-EU 10 50093844 50093844 single base substitution A C intron_variant BRCA-EU 10 50093877 50093877 single base substitution T C intron_variant BRCA-EU 10 50094209 50094209 single base substitution C T intron_variant BRCA-EU 10 50094570 50094570 single base substitution G T intron_variant BRCA-EU 10 50095014 50095014 single base substitution A C intron_variant BRCA-EU 10 50095225 50095225 single base substitution T G intron_variant BRCA-EU 10 50095756 50095756 single base substitution G A intron_variant BRCA-EU 10 50096052 50096052 single base substitution T A intron_variant BRCA-EU 10 50096729 50096729 single base substitution C T intron_variant BRCA-EU 10 50096775 50096775 single base substitution G C intron_variant BRCA-EU 10 50098900 50098900 single base substitution G C intron_variant BRCA-EU 10 50098998 50098998 single base substitution C G intron_variant BRCA-EU 10 50099529 50099529 single base substitution C T intron_variant BRCA-EU 10 50099543 50099543 single base substitution C G intron_variant BRCA-EU 10 50099569 50099569 single base substitution C G intron_variant BRCA-EU 10 50099857 50099857 single base substitution C A intron_variant BRCA-EU 10 50100106 50100106 single base substitution C A intron_variant BRCA-EU 10 50100179 50100179 single base substitution C G intron_variant BRCA-EU 10 50100260 50100260 single base substitution C G intron_variant BRCA-EU 10 50100341 50100341 single base substitution C G intron_variant BRCA-EU 10 50100355 50100355 single base substitution C A intron_variant BRCA-EU 10 50100397 50100397 single base substitution C G intron_variant BRCA-EU 10 50101413 50101413 single base substitution C G intron_variant BRCA-EU 10 50101568 50101568 single base substitution G A intron_variant BRCA-EU 10 50101709 50101709 single base substitution C T intron_variant BRCA-EU 10 50102502 50102502 single base substitution C A intron_variant BRCA-EU 10 50102694 50102694 single base substitution C T intron_variant BRCA-EU 10 50102754 50102754 single base substitution G T intron_variant BRCA-EU 10 50103611 50103611 single base substitution C A intron_variant BRCA-EU 10 50103879 50103879 single base substitution T C intron_variant BRCA-EU 10 50104256 50104256 single base substitution A T intron_variant BRCA-EU 10 50104731 50104731 deletion of <=200bp C - intron_variant BRCA-EU 10 50105190 50105190 single base substitution C T intron_variant BRCA-EU 10 50106007 50106007 single base substitution C T intron_variant BRCA-EU 10 50106704 50106704 single base substitution C G intron_variant BRCA-EU 10 50107442 50107442 single base substitution T C intron_variant BRCA-EU 10 50107720 50107720 deletion of <=200bp A - intron_variant BRCA-EU 10 50108453 50108453 single base substitution C G intron_variant BRCA-EU 10 50110288 50110288 single base substitution C G intron_variant BRCA-EU 10 50110319 50110319 single base substitution C T intron_variant BRCA-EU 10 50110405 50110405 single base substitution G A intron_variant BRCA-EU 10 50110877 50110877 single base substitution G A intron_variant BRCA-EU 10 50111112 50111112 single base substitution G A intron_variant BRCA-EU 10 50111154 50111154 deletion of <=200bp A - intron_variant BRCA-EU 10 50111707 50111707 single base substitution A T intron_variant BRCA-EU 10 50112020 50112020 single base substitution A G intron_variant BRCA-EU 10 50112780 50112780 single base substitution C G intron_variant BRCA-EU 10 50112972 50112972 single base substitution C T intron_variant BRCA-EU 10 50113520 50113520 single base substitution C T intron_variant BRCA-EU 10 50113734 50113734 single base substitution A G intron_variant BRCA-EU 10 50113915 50113915 single base substitution T G intron_variant BRCA-EU 10 50114351 50114351 single base substitution G A intron_variant BRCA-EU 10 50115016 50115016 single base substitution C G intron_variant BRCA-EU 10 50115080 50115080 single base substitution C G intron_variant BRCA-EU 10 50116946 50116946 single base substitution G T intron_variant BRCA-EU 10 50117161 50117161 single base substitution C A intron_variant BRCA-EU 10 50117333 50117333 insertion of <=200bp - T intron_variant BRCA-EU 10 50119899 50119899 single base substitution G A intron_variant BRCA-EU 10 50120736 50120736 single base substitution C G intron_variant BRCA-EU 10 50121133 50121133 single base substitution T C intron_variant BRCA-EU 10 50121829 50121829 single base substitution G A intron_variant BRCA-EU 10 50121957 50121957 single base substitution T A intron_variant BRCA-EU 10 50122024 50122024 single base substitution C A intron_variant BRCA-EU 10 50122091 50122091 single base substitution A G intron_variant BRCA-EU 10 50122531 50122531 single base substitution G A intron_variant BRCA-EU 10 50122640 50122640 single base substitution A G intron_variant BRCA-EU 10 50123121 50123121 single base substitution T C intron_variant BRCA-EU 10 50123533 50123533 single base substitution C A intron_variant BRCA-EU 10 50123654 50123654 single base substitution G A intron_variant BRCA-EU 10 50123655 50123655 single base substitution G T intron_variant BRCA-EU 10 50125558 50125558 single base substitution C T intron_variant BRCA-EU 10 50126257 50126257 single base substitution A G intron_variant BRCA-EU 10 50126743 50126743 single base substitution C G intron_variant BRCA-EU 10 50127494 50127494 single base substitution C G intron_variant BRCA-EU 10 50128266 50128269 deletion of <=200bp CCTT - intron_variant BRCA-EU 10 50128465 50128465 single base substitution G T intron_variant BRCA-EU 10 50128823 50128823 single base substitution A T intron_variant BRCA-EU 10 50129140 50129140 single base substitution G A intron_variant BRCA-EU 10 50131935 50131935 single base substitution G T intron_variant BRCA-EU 10 50132485 50132485 single base substitution G C intron_variant BRCA-EU 10 50133249 50133249 single base substitution C T intron_variant BRCA-EU 10 50134150 50134150 single base substitution C T intron_variant BRCA-EU 10 50134630 50134630 single base substitution A T intron_variant BRCA-EU 10 50135373 50135373 single base substitution G A intron_variant BRCA-EU 10 50135458 50135458 single base substitution C G intron_variant BRCA-EU 10 50136537 50136537 single base substitution C A intron_variant BRCA-EU 10 50136680 50136680 single base substitution C A intron_variant BRCA-EU 10 50136873 50136873 single base substitution C G intron_variant BRCA-EU 10 50137714 50137714 single base substitution C A intron_variant BRCA-EU 10 50138934 50138934 single base substitution C T intron_variant BRCA-EU 10 50139251 50139251 single base substitution G T intron_variant BRCA-EU 10 50140313 50140313 single base substitution G A intron_variant BRCA-EU 10 50141014 50141014 single base substitution T A intron_variant BRCA-EU 10 50142160 50142160 single base substitution A G intron_variant BRCA-EU 10 50142415 50142415 single base substitution A C intron_variant BRCA-EU 10 50142416 50142416 single base substitution C T intron_variant BRCA-EU 10 50142433 50142433 single base substitution G A intron_variant BRCA-EU 10 50142453 50142453 single base substitution G T intron_variant BRCA-EU 10 50143271 50143271 single base substitution C T intron_variant BRCA-EU 10 50144303 50144303 single base substitution T C intron_variant BRCA-EU 10 50144670 50144670 single base substitution C G intron_variant BRCA-EU 10 50145244 50145244 single base substitution C T intron_variant BRCA-EU 10 50148099 50148099 single base substitution A G intron_variant BRCA-EU 10 50148134 50148134 single base substitution C A intron_variant BRCA-EU 10 50148779 50148779 single base substitution G A intron_variant BRCA-EU 10 50150001 50150001 single base substitution T G intron_variant BRCA-EU 10 50150001 50150001 single base substitution T G upstream_gene_variant BRCA-EU 10 50150981 50150981 single base substitution C T intron_variant BRCA-EU 10 50150981 50150981 single base substitution C T upstream_gene_variant BRCA-EU 10 50151185 50151185 single base substitution T C intron_variant BRCA-EU 10 50151185 50151185 single base substitution T C upstream_gene_variant BRCA-EU 10 50151295 50151295 single base substitution C T intron_variant BRCA-EU 10 50151295 50151295 single base substitution C T upstream_gene_variant BRCA-EU 10 50151903 50151903 single base substitution G T intron_variant BRCA-EU 10 50151903 50151903 single base substitution G T upstream_gene_variant BRCA-EU 10 50152082 50152082 single base substitution A T intron_variant BRCA-EU 10 50152082 50152082 single base substitution A T upstream_gene_variant BRCA-EU 10 50153141 50153141 single base substitution C T intron_variant BRCA-EU 10 50153141 50153141 single base substitution C T upstream_gene_variant BRCA-EU 10 50153147 50153147 single base substitution G A intron_variant BRCA-EU 10 50153147 50153147 single base substitution G A upstream_gene_variant BRCA-EU 10 50153218 50153218 single base substitution C G intron_variant BRCA-EU 10 50153218 50153218 single base substitution C G upstream_gene_variant BRCA-EU 10 50153707 50153707 single base substitution C T intron_variant BRCA-EU 10 50153707 50153707 single base substitution C T upstream_gene_variant BRCA-EU 10 50154373 50154373 single base substitution C A intron_variant BRCA-EU 10 50155435 50155435 single base substitution G C intron_variant BRCA-EU 10 50155591 50155591 single base substitution A G intron_variant BRCA-EU 10 50156555 50156555 single base substitution C G intron_variant BRCA-EU 10 50156707 50156707 single base substitution A C intron_variant BRCA-EU 10 50156877 50156877 single base substitution G A intron_variant BRCA-EU 10 50157527 50157527 single base substitution G A intron_variant BRCA-EU 10 50157766 50157766 single base substitution C T intron_variant BRCA-EU 10 50158681 50158681 single base substitution C A intron_variant BRCA-EU 10 50159595 50159595 single base substitution G T intron_variant BRCA-EU 10 50159607 50159607 single base substitution G T intron_variant BRCA-EU 10 50160287 50160287 single base substitution C G intron_variant BRCA-EU 10 50160299 50160299 single base substitution C T intron_variant BRCA-EU 10 50160884 50160884 single base substitution C T intron_variant BRCA-EU 10 50161557 50161557 deletion of <=200bp T - intron_variant BRCA-EU 10 50161818 50161818 single base substitution T G intron_variant BRCA-EU 10 50163041 50163041 single base substitution A G intron_variant BRCA-EU 10 50163291 50163291 single base substitution T C intron_variant BRCA-EU 10 50163676 50163676 single base substitution T G intron_variant BRCA-EU 10 50163700 50163700 single base substitution A G intron_variant BRCA-EU 10 50164020 50164020 single base substitution C T intron_variant BRCA-EU 10 50164546 50164546 single base substitution C A intron_variant BRCA-EU 10 50164893 50164893 single base substitution G T intron_variant BRCA-EU 10 50166116 50166116 single base substitution C G intron_variant BRCA-EU 10 50166536 50166536 single base substitution G C intron_variant BRCA-EU 10 50166650 50166650 deletion of <=200bp T - intron_variant BRCA-EU 10 50167833 50167833 single base substitution G A 3_prime_UTR_variant BRCA-EU 10 50167833 50167833 single base substitution G A exon_variant BRCA-EU 10 50167833 50167833 single base substitution G A missense_variant R2733Q 8198G>A BRCA-EU 10 50167833 50167833 single base substitution G A missense_variant R819Q 2456G>A BRCA-EU 10 50168667 50168667 single base substitution C A intron_variant BRCA-EU 10 50168849 50168849 single base substitution A T intron_variant BRCA-EU 10 50169332 50169332 single base substitution G T intron_variant BRCA-EU 10 50169680 50169680 single base substitution G T intron_variant BRCA-EU 10 50169830 50169830 single base substitution G A intron_variant BRCA-EU 10 50169866 50169866 single base substitution A G intron_variant BRCA-EU 10 50169990 50169990 single base substitution C T intron_variant BRCA-EU 10 50170482 50170504 multiple base substitution (>=2bp and <=200bp) CTGGGCACCTAGCCCTGAAGCTA CATTTG intron_variant BRCA-EU 10 50172408 50172408 single base substitution G A intron_variant BRCA-EU 10 50172408 50172408 single base substitution G A upstream_gene_variant BRCA-EU 10 50173332 50173332 single base substitution T C intron_variant BRCA-EU 10 50173332 50173332 single base substitution T C upstream_gene_variant BRCA-EU 10 50174740 50174740 single base substitution G C exon_variant BRCA-EU 10 50174740 50174740 single base substitution G C intron_variant BRCA-EU 10 50174740 50174740 single base substitution G C upstream_gene_variant BRCA-EU 10 50178224 50178224 single base substitution G A 3_prime_UTR_variant BRCA-EU 10 50178224 50178224 single base substitution G A exon_variant BRCA-EU 10 50178224 50178224 single base substitution G A missense_variant A1026T 3076G>A BRCA-EU 10 50178224 50178224 single base substitution G A missense_variant A2940T 8818G>A BRCA-EU 10 50179022 50179022 single base substitution A T intron_variant BRCA-EU 10 50179280 50179280 single base substitution G A intron_variant BRCA-EU 10 50180900 50180900 single base substitution G T intron_variant BRCA-EU 10 50182093 50182093 single base substitution G C intron_variant BRCA-EU 10 50182093 50182093 single base substitution G C upstream_gene_variant BRCA-EU 10 50182811 50182811 single base substitution C A intron_variant BRCA-EU 10 50182811 50182811 single base substitution C A upstream_gene_variant BRCA-EU 10 50185905 50185905 single base substitution G C downstream_gene_variant BRCA-EU 10 50185905 50185905 single base substitution G C intron_variant BRCA-EU 10 50185905 50185905 single base substitution G C upstream_gene_variant BRCA-EU 10 50186542 50186542 single base substitution C A downstream_gene_variant BRCA-EU 10 50186542 50186542 single base substitution C A intron_variant BRCA-EU 10 50187249 50187249 single base substitution G A downstream_gene_variant BRCA-EU 10 50187249 50187249 single base substitution G A intron_variant BRCA-EU 10 50187384 50187384 single base substitution C A downstream_gene_variant BRCA-EU 10 50187384 50187384 single base substitution C A intron_variant BRCA-EU 10 50188775 50188775 single base substitution G A downstream_gene_variant BRCA-EU 10 50188775 50188775 single base substitution G A intron_variant BRCA-EU 10 50189322 50189322 single base substitution C T downstream_gene_variant BRCA-EU 10 50189322 50189322 single base substitution C T intron_variant BRCA-EU 10 50190097 50190097 single base substitution G A intron_variant BRCA-EU 10 50190550 50190550 single base substitution C A intron_variant BRCA-EU 10 50191196 50191196 single base substitution G C downstream_gene_variant BRCA-EU 10 50192392 50192392 single base substitution C G downstream_gene_variant BRCA-EU 10 50192742 50192742 single base substitution T C downstream_gene_variant BRCA-EU 10 50193314 50193314 single base substitution C T downstream_gene_variant BRCA-EU 10 50195484 50195484 single base substitution C A downstream_gene_variant BRCA-EU 10 50195485 50195485 single base substitution A G downstream_gene_variant BRCA-FR 10 49891158 49891158 single base substitution C T upstream_gene_variant BRCA-FR 10 49892693 49892693 single base substitution C T upstream_gene_variant BRCA-FR 10 49904561 49904561 single base substitution A G intron_variant BRCA-FR 10 49906784 49906784 single base substitution G A intron_variant BRCA-FR 10 49908436 49908436 single base substitution C G intron_variant BRCA-FR 10 49914330 49914330 single base substitution C A intron_variant BRCA-FR 10 49914330 49914330 single base substitution C A upstream_gene_variant BRCA-FR 10 49916473 49916473 single base substitution C G intron_variant BRCA-FR 10 49916473 49916473 single base substitution C G upstream_gene_variant BRCA-FR 10 49919344 49919344 single base substitution C T intron_variant BRCA-FR 10 49919393 49919393 single base substitution C A intron_variant BRCA-FR 10 49921713 49921713 single base substitution A G intron_variant BRCA-FR 10 49940250 49940250 single base substitution C G intron_variant BRCA-FR 10 49940468 49940468 single base substitution C G intron_variant BRCA-FR 10 49941434 49941434 single base substitution A G intron_variant BRCA-FR 10 49943116 49943116 single base substitution G A intron_variant BRCA-FR 10 49945192 49945192 single base substitution C T downstream_gene_variant BRCA-FR 10 49945192 49945192 single base substitution C T intron_variant BRCA-FR 10 49952670 49952670 single base substitution C G intron_variant BRCA-FR 10 49955314 49955314 single base substitution C G intron_variant BRCA-FR 10 49957236 49957236 single base substitution C T intron_variant BRCA-FR 10 49959977 49959977 single base substitution C T intron_variant BRCA-FR 10 49964763 49964763 single base substitution C T intron_variant BRCA-FR 10 49969347 49969347 single base substitution C G intron_variant BRCA-FR 10 49973500 49973500 single base substitution G C intron_variant BRCA-FR 10 49973839 49973839 single base substitution C T intron_variant BRCA-FR 10 49980447 49980447 single base substitution C T intron_variant BRCA-FR 10 49989684 49989684 single base substitution C T intron_variant BRCA-FR 10 49996221 49996221 single base substitution C T intron_variant BRCA-FR 10 49996510 49996510 single base substitution G C intron_variant BRCA-FR 10 50001552 50001552 single base substitution C T intron_variant BRCA-FR 10 50002056 50002056 single base substitution C A intron_variant BRCA-FR 10 50010823 50010823 single base substitution G A intron_variant BRCA-FR 10 50010823 50010823 single base substitution G A missense_variant A14T 40G>A BRCA-FR 10 50019012 50019012 single base substitution A T intron_variant BRCA-FR 10 50024697 50024697 single base substitution C G intron_variant BRCA-FR 10 50024697 50024697 single base substitution C G upstream_gene_variant BRCA-FR 10 50027560 50027560 single base substitution G T intron_variant BRCA-FR 10 50027560 50027560 single base substitution G T upstream_gene_variant BRCA-FR 10 50032104 50032104 single base substitution C T 3_prime_UTR_variant BRCA-FR 10 50032104 50032104 single base substitution C T intron_variant BRCA-FR 10 50034830 50034830 single base substitution C G 3_prime_UTR_variant BRCA-FR 10 50034830 50034830 single base substitution C G downstream_gene_variant BRCA-FR 10 50034830 50034830 single base substitution C G missense_variant L119V 355C>G BRCA-FR 10 50034830 50034830 single base substitution C G missense_variant L2033V 6097C>G BRCA-FR 10 50037326 50037326 single base substitution T C intron_variant BRCA-FR 10 50054090 50054090 single base substitution C T intron_variant BRCA-FR 10 50054885 50054885 single base substitution C A intron_variant BRCA-FR 10 50055986 50055986 single base substitution G A intron_variant BRCA-FR 10 50062317 50062317 single base substitution C T intron_variant BRCA-FR 10 50065589 50065589 single base substitution G A intron_variant BRCA-FR 10 50066131 50066131 single base substitution G A intron_variant BRCA-FR 10 50067657 50067657 single base substitution C T intron_variant BRCA-FR 10 50082942 50082942 single base substitution C T intron_variant BRCA-FR 10 50084360 50084360 single base substitution G A intron_variant BRCA-FR 10 50084782 50084782 single base substitution G A intron_variant BRCA-FR 10 50091833 50091833 single base substitution G A intron_variant BRCA-FR 10 50093877 50093877 single base substitution T C intron_variant BRCA-FR 10 50098900 50098900 single base substitution G C intron_variant BRCA-FR 10 50098998 50098998 single base substitution C G intron_variant BRCA-FR 10 50105851 50105851 single base substitution C A intron_variant BRCA-FR 10 50122024 50122024 single base substitution C A intron_variant BRCA-FR 10 50122640 50122640 single base substitution A G intron_variant BRCA-FR 10 50129140 50129140 single base substitution G A intron_variant BRCA-FR 10 50137714 50137714 single base substitution C A intron_variant BRCA-FR 10 50142433 50142433 single base substitution G A intron_variant BRCA-FR 10 50145244 50145244 single base substitution C T intron_variant BRCA-FR 10 50158681 50158681 single base substitution C A intron_variant BRCA-FR 10 50159580 50159580 single base substitution C T intron_variant BRCA-FR 10 50160299 50160299 single base substitution C T intron_variant BRCA-FR 10 50160884 50160884 single base substitution C T intron_variant BRCA-FR 10 50163041 50163041 single base substitution A G intron_variant BRCA-FR 10 50163676 50163676 single base substitution T G intron_variant BRCA-FR 10 50164893 50164893 single base substitution G T intron_variant BRCA-FR 10 50168667 50168667 single base substitution C A intron_variant BRCA-FR 10 50180900 50180900 single base substitution G T intron_variant BRCA-FR 10 50185905 50185905 single base substitution G C downstream_gene_variant BRCA-FR 10 50185905 50185905 single base substitution G C intron_variant BRCA-FR 10 50185905 50185905 single base substitution G C upstream_gene_variant BRCA-KR 10 49951403 49951403 single base substitution C T missense_variant P757S 2269C>T BRCA-UK 10 49890782 49890782 single base substitution C G upstream_gene_variant BRCA-UK 10 49920187 49920187 single base substitution C G intron_variant BRCA-UK 10 49943482 49943482 single base substitution G T intron_variant BRCA-UK 10 49961229 49961229 single base substitution C G intron_variant BRCA-UK 10 49967428 49967428 single base substitution C A intron_variant BRCA-UK 10 49977341 49977341 single base substitution T C intron_variant BRCA-UK 10 49987417 49987417 single base substitution C G intron_variant BRCA-UK 10 50030485 50030485 single base substitution C T 3_prime_UTR_variant BRCA-UK 10 50030485 50030485 single base substitution C T missense_variant S1962F 5885C>T BRCA-UK 10 50030485 50030485 single base substitution C T missense_variant S48F 143C>T BRCA-UK 10 50030485 50030485 single base substitution C T missense_variant S508F 1523C>T BRCA-UK 10 50040621 50040621 single base substitution C T 3_prime_UTR_variant BRCA-UK 10 50040621 50040621 single base substitution C T missense_variant S2177F 6530C>T BRCA-UK 10 50040621 50040621 single base substitution C T missense_variant S263F 788C>T BRCA-UK 10 50046647 50046647 insertion of <=200bp - TATA intron_variant BRCA-UK 10 50054845 50054845 single base substitution A T intron_variant BRCA-UK 10 50063574 50063574 single base substitution C G intron_variant BRCA-UK 10 50081452 50081452 single base substitution T G intron_variant BRCA-UK 10 50087422 50087422 single base substitution G T intron_variant BRCA-UK 10 50106226 50106226 single base substitution C T intron_variant BRCA-UK 10 50115016 50115016 single base substitution C G intron_variant BRCA-UK 10 50115080 50115080 single base substitution C G intron_variant BRCA-UK 10 50117161 50117161 single base substitution C A intron_variant BRCA-UK 10 50122531 50122531 single base substitution G A intron_variant BRCA-UK 10 50133809 50133809 single base substitution A T intron_variant BRCA-UK 10 50164020 50164020 single base substitution C T intron_variant BRCA-UK 10 50165232 50165232 single base substitution C T 3_prime_UTR_variant BRCA-UK 10 50165232 50165232 single base substitution C T exon_variant BRCA-UK 10 50165232 50165232 single base substitution C T missense_variant S2679L 8036C>T BRCA-UK 10 50165232 50165232 single base substitution C T missense_variant S765L 2294C>T BRCA-UK 10 50166432 50166432 single base substitution T G intron_variant BRCA-UK 10 50180930 50180930 single base substitution G A intron_variant BRCA-UK 10 50185656 50185656 single base substitution C T downstream_gene_variant BRCA-UK 10 50185656 50185656 single base substitution C T intron_variant BRCA-UK 10 50185656 50185656 single base substitution C T upstream_gene_variant BRCA-US 10 49931488 49931488 single base substitution G A missense_variant G156D 467G>A BRCA-US 10 49931543 49931543 single base substitution C T synonymous_variant F174F 522C>T BRCA-US 10 49937536 49937536 single base substitution T G missense_variant V344G 1031T>G BRCA-US 10 49939380 49939380 single base substitution T C missense_variant L452P 1355T>C BRCA-US 10 49943941 49943941 single base substitution C T synonymous_variant H568H 1704C>T BRCA-US 10 49988074 49988074 single base substitution G A intron_variant BRCA-US 10 49988074 49988074 single base substitution G A stop_gained W1162* 3486G>A BRCA-US 10 49998024 49998024 single base substitution C A intron_variant BRCA-US 10 49998024 49998024 single base substitution C A missense_variant Q1354K 4060C>A BRCA-US 10 49998813 49998813 single base substitution G T intron_variant BRCA-US 10 49998813 49998813 single base substitution G T missense_variant D1370Y 4108G>T BRCA-US 10 49998825 49998825 single base substitution G A intron_variant BRCA-US 10 49998825 49998825 single base substitution G A missense_variant G1374R 4120G>A BRCA-US 10 50011382 50011382 single base substitution T G intron_variant BRCA-US 10 50011382 50011382 single base substitution T G missense_variant L1488V 4462T>G BRCA-US 10 50011382 50011382 single base substitution T G missense_variant L34V 100T>G BRCA-US 10 50013339 50013339 single base substitution G C intron_variant BRCA-US 10 50013339 50013339 single base substitution G C missense_variant A1507P 4519G>C BRCA-US 10 50013339 50013339 single base substitution G C missense_variant A53P 157G>C BRCA-US 10 50022127 50022127 single base substitution G C missense_variant Q1780H 5340G>C BRCA-US 10 50022127 50022127 single base substitution G C missense_variant Q326H 978G>C BRCA-US 10 50022127 50022127 single base substitution G C splice_region_variant BRCA-US 10 50025362 50025362 single base substitution G A 3_prime_UTR_variant BRCA-US 10 50025362 50025362 single base substitution G A missense_variant V1805I 5413G>A BRCA-US 10 50025362 50025362 single base substitution G A missense_variant V351I 1051G>A BRCA-US 10 50025362 50025362 single base substitution G A upstream_gene_variant BRCA-US 10 50025367 50025367 single base substitution C A 3_prime_UTR_variant BRCA-US 10 50025367 50025367 single base substitution C A missense_variant H1806Q 5418C>A BRCA-US 10 50025367 50025367 single base substitution C A missense_variant H352Q 1056C>A BRCA-US 10 50025367 50025367 single base substitution C A upstream_gene_variant BRCA-US 10 50030439 50030439 single base substitution C A 3_prime_UTR_variant BRCA-US 10 50030439 50030439 single base substitution C A missense_variant Q1947K 5839C>A BRCA-US 10 50030439 50030439 single base substitution C A missense_variant Q33K 97C>A BRCA-US 10 50030439 50030439 single base substitution C A missense_variant Q493K 1477C>A BRCA-US 10 50036827 50036827 single base substitution C G 3_prime_UTR_variant BRCA-US 10 50036827 50036827 single base substitution C G downstream_gene_variant BRCA-US 10 50036827 50036827 single base substitution C G missense_variant P162A 484C>G BRCA-US 10 50036827 50036827 single base substitution C G missense_variant P2076A 6226C>G BRCA-US 10 50105541 50105541 single base substitution G A 3_prime_UTR_variant BRCA-US 10 50105541 50105541 single base substitution G A synonymous_variant R2453R 7359G>A BRCA-US 10 50105541 50105541 single base substitution G A synonymous_variant R539R 1617G>A BRCA-US 10 50121646 50121646 single base substitution C T intron_variant BRCA-US 10 50165257 50165257 single base substitution C T 3_prime_UTR_variant BRCA-US 10 50165257 50165257 single base substitution C T exon_variant BRCA-US 10 50165257 50165257 single base substitution C T synonymous_variant D2687D 8061C>T BRCA-US 10 50165257 50165257 single base substitution C T synonymous_variant D773D 2319C>T BRCA-US 10 50167832 50167832 single base substitution C T 3_prime_UTR_variant BRCA-US 10 50167832 50167832 single base substitution C T exon_variant BRCA-US 10 50167832 50167832 single base substitution C T missense_variant R2733W 8197C>T BRCA-US 10 50167832 50167832 single base substitution C T missense_variant R819W 2455C>T BRCA-US 10 50171988 50171988 single base substitution C A 3_prime_UTR_variant BRCA-US 10 50171988 50171988 single base substitution C A exon_variant BRCA-US 10 50171988 50171988 single base substitution C A synonymous_variant I2775I 8325C>A BRCA-US 10 50171988 50171988 single base substitution C A synonymous_variant I861I 2583C>A BRCA-US 10 50174637 50174637 single base substitution A C 3_prime_UTR_variant BRCA-US 10 50174637 50174637 single base substitution A C exon_variant BRCA-US 10 50174637 50174637 single base substitution A C missense_variant T2835P 8503A>C BRCA-US 10 50174637 50174637 single base substitution A C missense_variant T921P 2761A>C BRCA-US 10 50174637 50174637 single base substitution A C upstream_gene_variant BRCA-US 10 50176984 50176984 single base substitution T G exon_variant BRCA-US 10 50176984 50176984 single base substitution T G intron_variant BRCA-US 10 50176984 50176984 single base substitution T G upstream_gene_variant BTCA-JP 10 49935572 49935572 single base substitution C T missense_variant P280L 839C>T BTCA-JP 10 49937499 49937499 single base substitution G A missense_variant E332K 994G>A BTCA-JP 10 49937621 49937621 single base substitution T C synonymous_variant H372H 1116T>C BTCA-JP 10 49937692 49937692 single base substitution T C intron_variant BTCA-JP 10 49939347 49939347 single base substitution C T missense_variant P441L 1322C>T BTCA-JP 10 49983851 49983851 single base substitution G A missense_variant G955R 2863G>A BTCA-JP 10 49985009 49985009 single base substitution C T intron_variant BTCA-JP 10 49985009 49985009 single base substitution C T synonymous_variant D1026D 3078C>T BTCA-JP 10 49986717 49986717 single base substitution C T intron_variant BTCA-JP 10 49986717 49986717 single base substitution C T synonymous_variant S1079S 3237C>T BTCA-JP 10 49998780 49998780 single base substitution G A intron_variant BTCA-JP 10 49998780 49998780 single base substitution G A missense_variant V1359I 4075G>A BTCA-JP 10 49998824 49998824 single base substitution C T intron_variant BTCA-JP 10 49998824 49998824 single base substitution C T synonymous_variant G1373G 4119C>T BTCA-JP 10 50013343 50013343 single base substitution A G intron_variant BTCA-JP 10 50013343 50013343 single base substitution A G missense_variant Q1508R 4523A>G BTCA-JP 10 50013343 50013343 single base substitution A G missense_variant Q54R 161A>G BTCA-JP 10 50013528 50013528 single base substitution C A intron_variant BTCA-JP 10 50014018 50014018 single base substitution C T intron_variant BTCA-JP 10 50019812 50019812 single base substitution A C intron_variant BTCA-JP 10 50028318 50028318 single base substitution G A 3_prime_UTR_variant BTCA-JP 10 50028318 50028318 single base substitution G A missense_variant E1849K 5545G>A BTCA-JP 10 50028318 50028318 single base substitution G A missense_variant E395K 1183G>A BTCA-JP 10 50028318 50028318 single base substitution G A upstream_gene_variant BTCA-JP 10 50035032 50035032 single base substitution G T downstream_gene_variant BTCA-JP 10 50035032 50035032 single base substitution G T intron_variant BTCA-JP 10 50085233 50085233 single base substitution G A 3_prime_UTR_variant BTCA-JP 10 50085233 50085233 single base substitution G A missense_variant D2386N 7156G>A BTCA-JP 10 50085233 50085233 single base substitution G A missense_variant D472N 1414G>A BTCA-JP 10 50098736 50098736 single base substitution C T 3_prime_UTR_variant BTCA-JP 10 50098736 50098736 single base substitution C T missense_variant T2427M 7280C>T BTCA-JP 10 50098736 50098736 single base substitution C T missense_variant T513M 1538C>T BTCA-JP 10 50121468 50121468 single base substitution A C intron_variant BTCA-JP 10 50121720 50121720 single base substitution C T intron_variant BTCA-JP 10 50167707 50167707 single base substitution C T intron_variant BTCA-JP 10 50167787 50167787 single base substitution G T 3_prime_UTR_variant BTCA-JP 10 50167787 50167787 single base substitution G T exon_variant BTCA-JP 10 50167787 50167787 single base substitution G T missense_variant V2718L 8152G>T BTCA-JP 10 50167787 50167787 single base substitution G T missense_variant V804L 2410G>T BTCA-JP 10 50193448 50193448 deletion of <=200bp T - downstream_gene_variant CESC-US 10 49917830 49917830 single base substitution C G missense_variant S18C 53C>G CESC-US 10 49931577 49931577 single base substitution G T stop_gained E186* 556G>T CESC-US 10 49934112 49934112 single base substitution C T stop_gained Q260* 778C>T CESC-US 10 49939252 49939252 single base substitution C T synonymous_variant I409I 1227C>T CESC-US 10 49939277 49939277 single base substitution C G missense_variant R418G 1252C>G CESC-US 10 49944021 49944021 single base substitution C T missense_variant S595L 1784C>T CESC-US 10 49951299 49951299 single base substitution G A missense_variant G722E 2165G>A CESC-US 10 49997929 49997929 single base substitution C T intron_variant CESC-US 10 49997929 49997929 single base substitution C T missense_variant S1322L 3965C>T CESC-US 10 50004403 50004403 single base substitution A G intron_variant CESC-US 10 50004403 50004403 single base substitution A G missense_variant I1440V 4318A>G CESC-US 10 50014048 50014048 single base substitution G T intron_variant CESC-US 10 50014048 50014048 single base substitution G T splice_acceptor_variant CESC-US 10 50014080 50014080 single base substitution C A intron_variant CESC-US 10 50014080 50014080 single base substitution C A missense_variant P106T 316C>A CESC-US 10 50014080 50014080 single base substitution C A missense_variant P1560T 4678C>A CESC-US 10 50034953 50034953 single base substitution A T downstream_gene_variant CESC-US 10 50034953 50034953 single base substitution A T missense_variant S160C 478A>T CESC-US 10 50034953 50034953 single base substitution A T missense_variant S2074C 6220A>T CESC-US 10 50034953 50034953 single base substitution A T splice_region_variant CESC-US 10 50121493 50121493 single base substitution G T intron_variant CESC-US 10 50174698 50174698 single base substitution C T 3_prime_UTR_variant CESC-US 10 50174698 50174698 single base substitution C T exon_variant CESC-US 10 50174698 50174698 single base substitution C T missense_variant P2855L 8564C>T CESC-US 10 50174698 50174698 single base substitution C T missense_variant P941L 2822C>T CESC-US 10 50174698 50174698 single base substitution C T upstream_gene_variant CLLE-ES 10 49913845 49913845 single base substitution G A intron_variant CLLE-ES 10 49913845 49913845 single base substitution G A upstream_gene_variant CLLE-ES 10 49939223 49939223 single base substitution G A missense_variant V400I 1198G>A CLLE-ES 10 49946596 49946596 single base substitution A C downstream_gene_variant CLLE-ES 10 49946596 49946596 single base substitution A C intron_variant CLLE-ES 10 49952635 49952635 single base substitution T C intron_variant CLLE-ES 10 49956527 49956527 single base substitution C T intron_variant CLLE-ES 10 49971049 49971049 single base substitution C T intron_variant CLLE-ES 10 49989971 49989971 single base substitution G T intron_variant CLLE-ES 10 50012503 50012503 single base substitution C T intron_variant CLLE-ES 10 50028381 50028381 single base substitution G T 3_prime_UTR_variant CLLE-ES 10 50028381 50028381 single base substitution G T missense_variant A1870S 5608G>T CLLE-ES 10 50028381 50028381 single base substitution G T missense_variant A416S 1246G>T CLLE-ES 10 50028381 50028381 single base substitution G T upstream_gene_variant CLLE-ES 10 50039206 50039206 single base substitution C T intron_variant CLLE-ES 10 50069861 50069863 deletion of <=200bp TTC - intron_variant CLLE-ES 10 50079519 50079519 single base substitution T C intron_variant CLLE-ES 10 50092646 50092646 single base substitution A G intron_variant CLLE-ES 10 50132605 50132605 single base substitution C T intron_variant CLLE-ES 10 50156664 50156664 single base substitution A G intron_variant CLLE-ES 10 50157724 50157724 single base substitution C G intron_variant COAD-US 10 49917833 49917833 single base substitution A C missense_variant K19T 56A>C COAD-US 10 49929331 49929331 single base substitution G A synonymous_variant Q125Q 375G>A COAD-US 10 49933974 49933974 single base substitution T C missense_variant S214P 640T>C COAD-US 10 49933985 49933985 single base substitution G A synonymous_variant E217E 651G>A COAD-US 10 49939578 49939578 single base substitution G A missense_variant R518Q 1553G>A COAD-US 10 49943924 49943924 single base substitution G T splice_acceptor_variant COAD-US 10 49968432 49968432 single base substitution G A missense_variant V834M 2500G>A COAD-US 10 49983792 49983792 single base substitution C T missense_variant S935L 2804C>T COAD-US 10 49983820 49983820 insertion of <=200bp - CA frameshift_variant S944S? COAD-US 10 49984848 49984848 single base substitution G T missense_variant A973S 2917G>T COAD-US 10 49984993 49984993 single base substitution C T intron_variant COAD-US 10 49984993 49984993 single base substitution C T missense_variant S1021L 3062C>T COAD-US 10 49986727 49986727 single base substitution G A intron_variant COAD-US 10 49986727 49986727 single base substitution G A missense_variant A1083T 3247G>A COAD-US 10 49986769 49986769 single base substitution C T intron_variant COAD-US 10 49986769 49986769 single base substitution C T missense_variant R1097C 3289C>T COAD-US 10 49988141 49988141 single base substitution G T intron_variant COAD-US 10 49988141 49988141 single base substitution G T stop_gained G1185* 3553G>T COAD-US 10 49994735 49994735 single base substitution G A intron_variant COAD-US 10 49994735 49994735 single base substitution G A missense_variant A1210T 3628G>A COAD-US 10 49994911 49994911 single base substitution C G intron_variant COAD-US 10 49994911 49994911 single base substitution C G synonymous_variant V1268V 3804C>G COAD-US 10 49996616 49996616 single base substitution G T intron_variant COAD-US 10 49996616 49996616 single base substitution G T stop_gained E1284* 3850G>T COAD-US 10 49998780 49998780 single base substitution G A intron_variant COAD-US 10 49998780 49998780 single base substitution G A missense_variant V1359I 4075G>A COAD-US 10 49998824 49998824 single base substitution C T intron_variant COAD-US 10 49998824 49998824 single base substitution C T synonymous_variant G1373G 4119C>T COAD-US 10 50019685 50019685 single base substitution G A 3_prime_UTR_variant COAD-US 10 50019685 50019685 single base substitution G A missense_variant E1716K 5146G>A COAD-US 10 50019685 50019685 single base substitution G A missense_variant E262K 784G>A COAD-US 10 50025369 50025369 single base substitution G A 3_prime_UTR_variant COAD-US 10 50025369 50025369 single base substitution G A missense_variant R1807H 5420G>A COAD-US 10 50025369 50025369 single base substitution G A missense_variant R353H 1058G>A COAD-US 10 50025369 50025369 single base substitution G A upstream_gene_variant COAD-US 10 50025396 50025396 single base substitution G A 3_prime_UTR_variant COAD-US 10 50025396 50025396 single base substitution G A missense_variant R1816Q 5447G>A COAD-US 10 50025396 50025396 single base substitution G A missense_variant R362Q 1085G>A COAD-US 10 50025396 50025396 single base substitution G A upstream_gene_variant COAD-US 10 50028301 50028301 single base substitution G A 3_prime_UTR_variant COAD-US 10 50028301 50028301 single base substitution G A missense_variant R1843Q 5528G>A COAD-US 10 50028301 50028301 single base substitution G A missense_variant R389Q 1166G>A COAD-US 10 50028301 50028301 single base substitution G A upstream_gene_variant COAD-US 10 50028308 50028308 single base substitution C T 3_prime_UTR_variant COAD-US 10 50028308 50028308 single base substitution C T synonymous_variant T1845T 5535C>T COAD-US 10 50028308 50028308 single base substitution C T synonymous_variant T391T 1173C>T COAD-US 10 50028308 50028308 single base substitution C T upstream_gene_variant COAD-US 10 50028381 50028381 single base substitution G A 3_prime_UTR_variant COAD-US 10 50028381 50028381 single base substitution G A missense_variant A1870T 5608G>A COAD-US 10 50028381 50028381 single base substitution G A missense_variant A416T 1246G>A COAD-US 10 50028381 50028381 single base substitution G A upstream_gene_variant COAD-US 10 50029155 50029155 single base substitution G A 3_prime_UTR_variant COAD-US 10 50029155 50029155 single base substitution G A missense_variant E1920K 5758G>A COAD-US 10 50029155 50029155 single base substitution G A missense_variant E466K 1396G>A COAD-US 10 50029155 50029155 single base substitution G A missense_variant E6K 16G>A COAD-US 10 50036911 50036911 single base substitution A T 3_prime_UTR_variant COAD-US 10 50036911 50036911 single base substitution A T downstream_gene_variant COAD-US 10 50036911 50036911 single base substitution A T stop_gained K190* 568A>T COAD-US 10 50036911 50036911 single base substitution A T stop_gained K2104* 6310A>T COAD-US 10 50038878 50038878 single base substitution G C 3_prime_UTR_variant COAD-US 10 50038878 50038878 single base substitution G C missense_variant E2158D 6474G>C COAD-US 10 50038878 50038878 single base substitution G C missense_variant E244D 732G>C COAD-US 10 50081622 50081622 deletion of <=200bp G - 3_prime_UTR_variant COAD-US 10 50081622 50081622 deletion of <=200bp G - frameshift_variant Q2276 COAD-US 10 50081622 50081622 deletion of <=200bp G - frameshift_variant Q362 COAD-US 10 50081652 50081652 single base substitution G T 3_prime_UTR_variant COAD-US 10 50081652 50081652 single base substitution G T missense_variant W2286C 6858G>T COAD-US 10 50081652 50081652 single base substitution G T missense_variant W372C 1116G>T COAD-US 10 50081680 50081680 single base substitution C T 3_prime_UTR_variant COAD-US 10 50081680 50081680 single base substitution C T stop_gained R2296* 6886C>T COAD-US 10 50081680 50081680 single base substitution C T stop_gained R382* 1144C>T COAD-US 10 50085200 50085200 single base substitution C T 3_prime_UTR_variant COAD-US 10 50085200 50085200 single base substitution C T missense_variant R2375W 7123C>T COAD-US 10 50085200 50085200 single base substitution C T missense_variant R461W 1381C>T COAD-US 10 50098739 50098739 single base substitution G C 3_prime_UTR_variant COAD-US 10 50098739 50098739 single base substitution G C missense_variant G2428A 7283G>C COAD-US 10 50098739 50098739 single base substitution G C missense_variant G514A 1541G>C COAD-US 10 50105524 50105524 single base substitution C A 3_prime_UTR_variant COAD-US 10 50105524 50105524 single base substitution C A missense_variant L2448M 7342C>A COAD-US 10 50105524 50105524 single base substitution C A missense_variant L534M 1600C>A COAD-US 10 50105597 50105597 single base substitution G A 3_prime_UTR_variant COAD-US 10 50105597 50105597 single base substitution G A missense_variant R2472Q 7415G>A COAD-US 10 50105597 50105597 single base substitution G A missense_variant R558Q 1673G>A COAD-US 10 50121545 50121545 single base substitution T C intron_variant COAD-US 10 50121753 50121753 single base substitution C A intron_variant COAD-US 10 50121785 50121785 single base substitution G A intron_variant COAD-US 10 50121796 50121796 single base substitution G A intron_variant COAD-US 10 50121964 50121964 single base substitution G A intron_variant COAD-US 10 50122112 50122112 deletion of <=200bp T - intron_variant COAD-US 10 50151455 50151455 single base substitution C T 3_prime_UTR_variant COAD-US 10 50151455 50151455 single base substitution C T synonymous_variant Y2570Y 7710C>T COAD-US 10 50151455 50151455 single base substitution C T synonymous_variant Y656Y 1968C>T COAD-US 10 50151455 50151455 single base substitution C T upstream_gene_variant COAD-US 10 50154192 50154192 single base substitution G A 3_prime_UTR_variant COAD-US 10 50154192 50154192 single base substitution G A exon_variant COAD-US 10 50154192 50154192 single base substitution G A synonymous_variant E2619E 7857G>A COAD-US 10 50154192 50154192 single base substitution G A synonymous_variant E705E 2115G>A COAD-US 10 50154917 50154917 single base substitution T C 3_prime_UTR_variant COAD-US 10 50154917 50154917 single base substitution T C exon_variant COAD-US 10 50154917 50154917 single base substitution T C missense_variant V2627A 7880T>C COAD-US 10 50154917 50154917 single base substitution T C missense_variant V713A 2138T>C COAD-US 10 50165189 50165189 single base substitution G A 3_prime_UTR_variant COAD-US 10 50165189 50165189 single base substitution G A exon_variant COAD-US 10 50165189 50165189 single base substitution G A missense_variant V2665M 7993G>A COAD-US 10 50165189 50165189 single base substitution G A missense_variant V751M 2251G>A COAD-US 10 50178201 50178201 single base substitution C T 3_prime_UTR_variant COAD-US 10 50178201 50178201 single base substitution C T exon_variant COAD-US 10 50178201 50178201 single base substitution C T missense_variant A1018V 3053C>T COAD-US 10 50178201 50178201 single base substitution C T missense_variant A2932V 8795C>T COAD-US 10 50178250 50178250 single base substitution T C 3_prime_UTR_variant COAD-US 10 50178250 50178250 single base substitution T C exon_variant COAD-US 10 50178250 50178250 single base substitution T C synonymous_variant I1034I 3102T>C COAD-US 10 50178250 50178250 single base substitution T C synonymous_variant I2948I 8844T>C COAD-US 10 50178256 50178256 single base substitution C A 3_prime_UTR_variant COAD-US 10 50178256 50178256 single base substitution C A exon_variant COAD-US 10 50178256 50178256 single base substitution C A synonymous_variant T1036T 3108C>A COAD-US 10 50178256 50178256 single base substitution C A synonymous_variant T2950T 8850C>A COAD-US 10 50178307 50178307 single base substitution C T 3_prime_UTR_variant COAD-US 10 50178307 50178307 single base substitution C T exon_variant COAD-US 10 50178307 50178307 single base substitution C T synonymous_variant G1053G 3159C>T COAD-US 10 50178307 50178307 single base substitution C T synonymous_variant G2967G 8901C>T COAD-US 10 50182944 50182944 single base substitution C T 3_prime_UTR_variant COAD-US 10 50182944 50182944 single base substitution C T exon_variant COAD-US 10 50182944 50182944 single base substitution C T missense_variant A1075V 3224C>T COAD-US 10 50182944 50182944 single base substitution C T missense_variant A2989V 8966C>T COAD-US 10 50182944 50182944 single base substitution C T upstream_gene_variant COAD-US 10 50183042 50183042 single base substitution G A 3_prime_UTR_variant COAD-US 10 50183042 50183042 single base substitution G A exon_variant COAD-US 10 50183042 50183042 single base substitution G A missense_variant A1108T 3322G>A COAD-US 10 50183042 50183042 single base substitution G A missense_variant A3022T 9064G>A COAD-US 10 50183042 50183042 single base substitution G A upstream_gene_variant COAD-US 10 50184949 50184949 single base substitution C T 3_prime_UTR_variant COAD-US 10 50184949 50184949 single base substitution C T exon_variant COAD-US 10 50184949 50184949 single base substitution C T synonymous_variant C1158C 3474C>T COAD-US 10 50184949 50184949 single base substitution C T synonymous_variant C3072C 9216C>T COAD-US 10 50184949 50184949 single base substitution C T upstream_gene_variant COAD-US 10 50185022 50185022 single base substitution C A downstream_gene_variant COAD-US 10 50185022 50185022 single base substitution C A splice_region_variant COAD-US 10 50185022 50185022 single base substitution C A upstream_gene_variant COAD-US 10 50186415 50186415 single base substitution C T 3_prime_UTR_variant COAD-US 10 50186415 50186415 single base substitution C T downstream_gene_variant COAD-US 10 50186415 50186415 single base substitution C T exon_variant COAD-US 10 50186415 50186415 single base substitution C T missense_variant P1204L 3611C>T COAD-US 10 50186415 50186415 single base substitution C T missense_variant P3118L 9353C>T COCA-CN 10 49913004 49913004 single base substitution G T intron_variant COCA-CN 10 49913004 49913004 single base substitution G T upstream_gene_variant COCA-CN 10 49914478 49914478 single base substitution C T intron_variant COCA-CN 10 49914478 49914478 single base substitution C T upstream_gene_variant COCA-CN 10 49939056 49939056 single base substitution G T intron_variant COCA-CN 10 49939432 49939432 single base substitution G T missense_variant K469N 1407G>T COCA-CN 10 49942058 49942058 single base substitution G T synonymous_variant L555L 1665G>T COCA-CN 10 49942149 49942149 single base substitution G A intron_variant COCA-CN 10 49949455 49949455 single base substitution G A intron_variant COCA-CN 10 49951166 49951166 single base substitution C A missense_variant L678M 2032C>A COCA-CN 10 49951642 49951642 single base substitution T C intron_variant COCA-CN 10 49959660 49959660 single base substitution G T intron_variant COCA-CN 10 49968596 49968596 single base substitution G A intron_variant COCA-CN 10 49969556 49969556 single base substitution G T intron_variant COCA-CN 10 49982298 49982298 single base substitution A T intron_variant COCA-CN 10 49982975 49982975 single base substitution C T intron_variant COCA-CN 10 49983043 49983043 single base substitution T G intron_variant COCA-CN 10 49983898 49983898 single base substitution T C intron_variant COCA-CN 10 49984003 49984003 single base substitution G T intron_variant COCA-CN 10 49984826 49984826 single base substitution G T synonymous_variant G965G 2895G>T COCA-CN 10 49984880 49984880 single base substitution G A synonymous_variant P983P 2949G>A COCA-CN 10 49986188 49986188 single base substitution T C intron_variant COCA-CN 10 49986770 49986770 single base substitution G A intron_variant COCA-CN 10 49986770 49986770 single base substitution G A missense_variant R1097H 3290G>A COCA-CN 10 49989529 49989529 single base substitution C T intron_variant COCA-CN 10 49994735 49994735 single base substitution G A intron_variant COCA-CN 10 49994735 49994735 single base substitution G A missense_variant A1210T 3628G>A COCA-CN 10 49994804 49994804 single base substitution C T intron_variant COCA-CN 10 49994804 49994804 single base substitution C T missense_variant R1233C 3697C>T COCA-CN 10 49995852 49995852 single base substitution C T intron_variant COCA-CN 10 49995855 49995855 single base substitution T C intron_variant COCA-CN 10 49996016 49996016 single base substitution T C intron_variant COCA-CN 10 49996031 49996031 single base substitution C T intron_variant COCA-CN 10 49996646 49996646 single base substitution A G intron_variant COCA-CN 10 49996646 49996646 single base substitution A G missense_variant S1294G 3880A>G COCA-CN 10 49997795 49997795 single base substitution G T intron_variant COCA-CN 10 50003435 50003435 single base substitution G A intron_variant COCA-CN 10 50003639 50003639 single base substitution C T intron_variant COCA-CN 10 50004389 50004389 single base substitution G A intron_variant COCA-CN 10 50004389 50004389 single base substitution G A missense_variant R1435Q 4304G>A COCA-CN 10 50008775 50008775 single base substitution C T intron_variant COCA-CN 10 50008775 50008775 single base substitution C T upstream_gene_variant COCA-CN 10 50012639 50012639 single base substitution G T intron_variant COCA-CN 10 50013380 50013380 single base substitution G A intron_variant COCA-CN 10 50013380 50013380 single base substitution G A synonymous_variant P1520P 4560G>A COCA-CN 10 50013380 50013380 single base substitution G A synonymous_variant P66P 198G>A COCA-CN 10 50014087 50014087 single base substitution C T intron_variant COCA-CN 10 50014087 50014087 single base substitution C T missense_variant S108L 323C>T COCA-CN 10 50014087 50014087 single base substitution C T missense_variant S1562L 4685C>T COCA-CN 10 50016149 50016149 single base substitution C A intron_variant COCA-CN 10 50017445 50017445 single base substitution G C intron_variant COCA-CN 10 50018735 50018735 single base substitution G T 3_prime_UTR_variant COCA-CN 10 50018735 50018735 single base substitution G T stop_gained G1667* 4999G>T COCA-CN 10 50018735 50018735 single base substitution G T stop_gained G213* 637G>T COCA-CN 10 50022072 50022072 single base substitution T G 3_prime_UTR_variant COCA-CN 10 50022072 50022072 single base substitution T G missense_variant L1762R 5285T>G COCA-CN 10 50022072 50022072 single base substitution T G missense_variant L308R 923T>G COCA-CN 10 50030421 50030421 single base substitution A G splice_region_variant COCA-CN 10 50034635 50034635 single base substitution T A downstream_gene_variant COCA-CN 10 50034635 50034635 single base substitution T A intron_variant COCA-CN 10 50038800 50038800 single base substitution A G 3_prime_UTR_variant COCA-CN 10 50038800 50038800 single base substitution A G synonymous_variant Q2132Q 6396A>G COCA-CN 10 50038800 50038800 single base substitution A G synonymous_variant Q218Q 654A>G COCA-CN 10 50064885 50064885 single base substitution A T intron_variant COCA-CN 10 50069395 50069395 single base substitution G A intron_variant COCA-CN 10 50070549 50070549 single base substitution C A intron_variant COCA-CN 10 50078117 50078117 single base substitution G A intron_variant COCA-CN 10 50079511 50079511 single base substitution C A intron_variant COCA-CN 10 50081680 50081680 single base substitution C T 3_prime_UTR_variant COCA-CN 10 50081680 50081680 single base substitution C T stop_gained R2296* 6886C>T COCA-CN 10 50081680 50081680 single base substitution C T stop_gained R382* 1144C>T COCA-CN 10 50082888 50082888 single base substitution T C intron_variant COCA-CN 10 50084898 50084898 single base substitution G T intron_variant COCA-CN 10 50090557 50090557 single base substitution A G intron_variant COCA-CN 10 50098651 50098651 single base substitution G A 3_prime_UTR_variant COCA-CN 10 50098651 50098651 single base substitution G A missense_variant V2399M 7195G>A COCA-CN 10 50098651 50098651 single base substitution G A missense_variant V485M 1453G>A COCA-CN 10 50098736 50098736 single base substitution C T 3_prime_UTR_variant COCA-CN 10 50098736 50098736 single base substitution C T missense_variant T2427M 7280C>T COCA-CN 10 50098736 50098736 single base substitution C T missense_variant T513M 1538C>T COCA-CN 10 50099088 50099088 single base substitution G A intron_variant COCA-CN 10 50099794 50099794 single base substitution G T intron_variant COCA-CN 10 50102563 50102563 single base substitution T A intron_variant COCA-CN 10 50105658 50105658 single base substitution G T intron_variant COCA-CN 10 50108332 50108332 single base substitution C T 3_prime_UTR_variant COCA-CN 10 50108332 50108332 single base substitution C T missense_variant R2502W 7504C>T COCA-CN 10 50108332 50108332 single base substitution C T missense_variant R588W 1762C>T COCA-CN 10 50108387 50108387 single base substitution A G intron_variant COCA-CN 10 50121505 50121505 single base substitution C T intron_variant COCA-CN 10 50121613 50121613 single base substitution C A intron_variant COCA-CN 10 50121893 50121893 single base substitution A G intron_variant COCA-CN 10 50121945 50121945 single base substitution C G intron_variant COCA-CN 10 50121974 50121974 single base substitution C A intron_variant COCA-CN 10 50122185 50122185 single base substitution T G intron_variant COCA-CN 10 50122204 50122204 single base substitution C A intron_variant COCA-CN 10 50139151 50139151 single base substitution C A intron_variant COCA-CN 10 50154144 50154144 single base substitution G A 3_prime_UTR_variant COCA-CN 10 50154144 50154144 single base substitution G A exon_variant COCA-CN 10 50154144 50154144 single base substitution G A synonymous_variant Q2603Q 7809G>A COCA-CN 10 50154144 50154144 single base substitution G A synonymous_variant Q689Q 2067G>A COCA-CN 10 50154158 50154158 single base substitution A G 3_prime_UTR_variant COCA-CN 10 50154158 50154158 single base substitution A G exon_variant COCA-CN 10 50154158 50154158 single base substitution A G missense_variant K2608R 7823A>G COCA-CN 10 50154158 50154158 single base substitution A G missense_variant K694R 2081A>G COCA-CN 10 50165128 50165128 single base substitution G A intron_variant COCA-CN 10 50167717 50167717 single base substitution C A intron_variant COCA-CN 10 50172652 50172652 single base substitution T C intron_variant COCA-CN 10 50172652 50172652 single base substitution T C upstream_gene_variant COCA-CN 10 50173819 50173819 single base substitution A G intron_variant COCA-CN 10 50173819 50173819 single base substitution A G upstream_gene_variant COCA-CN 10 50173900 50173900 single base substitution T C intron_variant COCA-CN 10 50173900 50173900 single base substitution T C upstream_gene_variant COCA-CN 10 50177087 50177087 single base substitution C T exon_variant COCA-CN 10 50177087 50177087 single base substitution C T intron_variant COCA-CN 10 50178247 50178247 single base substitution G A 3_prime_UTR_variant COCA-CN 10 50178247 50178247 single base substitution G A exon_variant COCA-CN 10 50178247 50178247 single base substitution G A synonymous_variant T1033T 3099G>A COCA-CN 10 50178247 50178247 single base substitution G A synonymous_variant T2947T 8841G>A COCA-CN 10 50178541 50178541 single base substitution T C intron_variant COCA-CN 10 50183048 50183048 single base substitution C T 3_prime_UTR_variant COCA-CN 10 50183048 50183048 single base substitution C T exon_variant COCA-CN 10 50183048 50183048 single base substitution C T missense_variant R1110W 3328C>T COCA-CN 10 50183048 50183048 single base substitution C T missense_variant R3024W 9070C>T COCA-CN 10 50183048 50183048 single base substitution C T upstream_gene_variant COCA-CN 10 50184890 50184890 single base substitution A G 3_prime_UTR_variant COCA-CN 10 50184890 50184890 single base substitution A G exon_variant COCA-CN 10 50184890 50184890 single base substitution A G missense_variant N1139D 3415A>G COCA-CN 10 50184890 50184890 single base substitution A G missense_variant N3053D 9157A>G COCA-CN 10 50184890 50184890 single base substitution A G upstream_gene_variant COCA-CN 10 50184955 50184955 single base substitution C T 3_prime_UTR_variant COCA-CN 10 50184955 50184955 single base substitution C T exon_variant COCA-CN 10 50184955 50184955 single base substitution C T synonymous_variant C1160C 3480C>T COCA-CN 10 50184955 50184955 single base substitution C T synonymous_variant C3074C 9222C>T COCA-CN 10 50184955 50184955 single base substitution C T upstream_gene_variant COCA-CN 10 50186394 50186394 single base substitution G A 3_prime_UTR_variant COCA-CN 10 50186394 50186394 single base substitution G A downstream_gene_variant COCA-CN 10 50186394 50186394 single base substitution G A exon_variant COCA-CN 10 50186394 50186394 single base substitution G A missense_variant R1197Q 3590G>A COCA-CN 10 50186394 50186394 single base substitution G A missense_variant R3111Q 9332G>A COCA-CN 10 50190576 50190576 single base substitution G T 3_prime_UTR_variant COCA-CN 10 50190576 50190576 single base substitution G T exon_variant COCA-CN 10 50190576 50190576 single base substitution G T intron_variant COCA-CN 10 50190576 50190576 single base substitution G T missense_variant G1257C 3769G>T COCA-CN 10 50190576 50190576 single base substitution G T missense_variant G3171C 9511G>T EOPC-DE 10 49906834 49906834 single base substitution G A intron_variant EOPC-DE 10 49914634 49914634 single base substitution A G intron_variant EOPC-DE 10 49914634 49914634 single base substitution A G upstream_gene_variant EOPC-DE 10 49924116 49924116 single base substitution C T intron_variant EOPC-DE 10 49935121 49935121 single base substitution C A intron_variant EOPC-DE 10 49976860 49976860 single base substitution T A intron_variant EOPC-DE 10 50011813 50011813 single base substitution G T intron_variant EOPC-DE 10 50014769 50014769 single base substitution A T intron_variant EOPC-DE 10 50028380 50028380 single base substitution C T 3_prime_UTR_variant EOPC-DE 10 50028380 50028380 single base substitution C T synonymous_variant P1869P 5607C>T EOPC-DE 10 50028380 50028380 single base substitution C T synonymous_variant P415P 1245C>T EOPC-DE 10 50028380 50028380 single base substitution C T upstream_gene_variant EOPC-DE 10 50053174 50053174 single base substitution C T intron_variant EOPC-DE 10 50107764 50107764 single base substitution A G intron_variant EOPC-DE 10 50113414 50113414 single base substitution T A intron_variant EOPC-DE 10 50127006 50127006 single base substitution C T intron_variant EOPC-DE 10 50127053 50127053 single base substitution C T intron_variant EOPC-DE 10 50180561 50180561 single base substitution G A intron_variant EOPC-DE 10 50195114 50195114 single base substitution G A downstream_gene_variant ESAD-UK 10 49888767 49888767 insertion of <=200bp - T upstream_gene_variant ESAD-UK 10 49888773 49888773 single base substitution T C upstream_gene_variant ESAD-UK 10 49888846 49888846 insertion of <=200bp - T upstream_gene_variant ESAD-UK 10 49889417 49889417 single base substitution T G upstream_gene_variant ESAD-UK 10 49889865 49889865 single base substitution C T upstream_gene_variant ESAD-UK 10 49890232 49890232 single base substitution A C upstream_gene_variant ESAD-UK 10 49890493 49890493 single base substitution G T upstream_gene_variant ESAD-UK 10 49890535 49890535 single base substitution C T upstream_gene_variant ESAD-UK 10 49891192 49891192 single base substitution C T upstream_gene_variant ESAD-UK 10 49893989 49893989 single base substitution T C intron_variant ESAD-UK 10 49894252 49894252 single base substitution G A intron_variant ESAD-UK 10 49894584 49894584 single base substitution T A intron_variant ESAD-UK 10 49895941 49895941 single base substitution C A intron_variant ESAD-UK 10 49896395 49896395 insertion of <=200bp - C intron_variant ESAD-UK 10 49897275 49897275 single base substitution A G intron_variant ESAD-UK 10 49897500 49897500 single base substitution T G intron_variant ESAD-UK 10 49897545 49897545 single base substitution T G intron_variant ESAD-UK 10 49897694 49897694 single base substitution A G intron_variant ESAD-UK 10 49897913 49897913 single base substitution T G intron_variant ESAD-UK 10 49898601 49898601 single base substitution T G intron_variant ESAD-UK 10 49898768 49898768 single base substitution G T intron_variant ESAD-UK 10 49899740 49899740 single base substitution A C intron_variant ESAD-UK 10 49901115 49901115 single base substitution T A intron_variant ESAD-UK 10 49901419 49901419 single base substitution T A intron_variant ESAD-UK 10 49901455 49901455 single base substitution A C intron_variant ESAD-UK 10 49902329 49902329 single base substitution C T intron_variant ESAD-UK 10 49902584 49902584 single base substitution T C intron_variant ESAD-UK 10 49902892 49902892 single base substitution A C intron_variant ESAD-UK 10 49903219 49903219 single base substitution T G intron_variant ESAD-UK 10 49903826 49903826 single base substitution A C intron_variant ESAD-UK 10 49904021 49904021 single base substitution A C intron_variant ESAD-UK 10 49904297 49904297 single base substitution A T intron_variant ESAD-UK 10 49905050 49905050 single base substitution T G intron_variant ESAD-UK 10 49905464 49905464 single base substitution T G intron_variant ESAD-UK 10 49906395 49906395 single base substitution T C intron_variant ESAD-UK 10 49906480 49906480 single base substitution A C intron_variant ESAD-UK 10 49906661 49906661 single base substitution G A intron_variant ESAD-UK 10 49907364 49907364 single base substitution A G intron_variant ESAD-UK 10 49907414 49907414 single base substitution C A intron_variant ESAD-UK 10 49909182 49909182 single base substitution A C intron_variant ESAD-UK 10 49909238 49909238 single base substitution T C intron_variant ESAD-UK 10 49909371 49909371 single base substitution G T intron_variant ESAD-UK 10 49910426 49910426 single base substitution G A intron_variant ESAD-UK 10 49911269 49911269 single base substitution C A intron_variant ESAD-UK 10 49911418 49911418 single base substitution C T intron_variant ESAD-UK 10 49912297 49912297 single base substitution A C intron_variant ESAD-UK 10 49912297 49912297 single base substitution A G intron_variant ESAD-UK 10 49912375 49912375 single base substitution A C intron_variant ESAD-UK 10 49913244 49913244 single base substitution T G intron_variant ESAD-UK 10 49913244 49913244 single base substitution T G upstream_gene_variant ESAD-UK 10 49913329 49913329 single base substitution T G intron_variant ESAD-UK 10 49913329 49913329 single base substitution T G upstream_gene_variant ESAD-UK 10 49913547 49913547 single base substitution T C intron_variant ESAD-UK 10 49913547 49913547 single base substitution T C upstream_gene_variant ESAD-UK 10 49913803 49913803 single base substitution G T intron_variant ESAD-UK 10 49913803 49913803 single base substitution G T upstream_gene_variant ESAD-UK 10 49914218 49914218 single base substitution G A intron_variant ESAD-UK 10 49914218 49914218 single base substitution G A upstream_gene_variant ESAD-UK 10 49915931 49915931 single base substitution C T intron_variant ESAD-UK 10 49915931 49915931 single base substitution C T upstream_gene_variant ESAD-UK 10 49918086 49918086 single base substitution T C intron_variant ESAD-UK 10 49918086 49918086 single base substitution T G intron_variant ESAD-UK 10 49918498 49918498 single base substitution A C intron_variant ESAD-UK 10 49918719 49918719 single base substitution C T intron_variant ESAD-UK 10 49919439 49919439 single base substitution C T intron_variant ESAD-UK 10 49920541 49920541 single base substitution C T intron_variant ESAD-UK 10 49920737 49920737 single base substitution A C intron_variant ESAD-UK 10 49921419 49921419 single base substitution C T intron_variant ESAD-UK 10 49921758 49921758 single base substitution T G intron_variant ESAD-UK 10 49921985 49921985 single base substitution T G intron_variant ESAD-UK 10 49922131 49922131 single base substitution C A intron_variant ESAD-UK 10 49922213 49922213 single base substitution A G intron_variant ESAD-UK 10 49922564 49922564 single base substitution T C intron_variant ESAD-UK 10 49922691 49922691 single base substitution A T intron_variant ESAD-UK 10 49922744 49922744 single base substitution T C intron_variant ESAD-UK 10 49923161 49923161 single base substitution T C intron_variant ESAD-UK 10 49923425 49923425 single base substitution C T intron_variant ESAD-UK 10 49923773 49923773 single base substitution C A intron_variant ESAD-UK 10 49924013 49924013 single base substitution T C intron_variant ESAD-UK 10 49924482 49924482 deletion of <=200bp T - intron_variant ESAD-UK 10 49925150 49925150 single base substitution T C intron_variant ESAD-UK 10 49926336 49926336 single base substitution T C intron_variant ESAD-UK 10 49926352 49926352 single base substitution G T intron_variant ESAD-UK 10 49926377 49926377 single base substitution T G intron_variant ESAD-UK 10 49927509 49927509 single base substitution T G intron_variant ESAD-UK 10 49927519 49927519 single base substitution A G intron_variant ESAD-UK 10 49927679 49927679 single base substitution C A intron_variant ESAD-UK 10 49928370 49928370 single base substitution T A intron_variant ESAD-UK 10 49928858 49928858 single base substitution G T intron_variant ESAD-UK 10 49928966 49928966 single base substitution T C intron_variant ESAD-UK 10 49929787 49929787 single base substitution T G intron_variant ESAD-UK 10 49930488 49930488 single base substitution C G intron_variant ESAD-UK 10 49931432 49931432 single base substitution T G intron_variant ESAD-UK 10 49931618 49931618 single base substitution T G splice_region_variant ESAD-UK 10 49931809 49931809 single base substitution T C intron_variant ESAD-UK 10 49931809 49931809 single base substitution T G intron_variant ESAD-UK 10 49932126 49932126 single base substitution T G intron_variant ESAD-UK 10 49932153 49932153 single base substitution C T intron_variant ESAD-UK 10 49932697 49932697 single base substitution G A intron_variant ESAD-UK 10 49932745 49932745 single base substitution G A intron_variant ESAD-UK 10 49933031 49933031 single base substitution G A intron_variant ESAD-UK 10 49933346 49933346 single base substitution A C intron_variant ESAD-UK 10 49933448 49933448 single base substitution T C intron_variant ESAD-UK 10 49933662 49933662 single base substitution T C intron_variant ESAD-UK 10 49933765 49933765 single base substitution T C intron_variant ESAD-UK 10 49935073 49935073 single base substitution C A intron_variant ESAD-UK 10 49935468 49935468 single base substitution T C intron_variant ESAD-UK 10 49935532 49935532 single base substitution C T missense_variant L267F 799C>T ESAD-UK 10 49935703 49935703 single base substitution C T missense_variant R324W 970C>T ESAD-UK 10 49936004 49936004 single base substitution A C intron_variant ESAD-UK 10 49936094 49936094 single base substitution A C intron_variant ESAD-UK 10 49936507 49936507 single base substitution T A intron_variant ESAD-UK 10 49936847 49936847 single base substitution T G intron_variant ESAD-UK 10 49936973 49936973 single base substitution T G intron_variant ESAD-UK 10 49937022 49937022 single base substitution C T intron_variant ESAD-UK 10 49937164 49937164 single base substitution G T intron_variant ESAD-UK 10 49937351 49937351 single base substitution T C intron_variant ESAD-UK 10 49937624 49937624 single base substitution T A missense_variant H373Q 1119T>A ESAD-UK 10 49937749 49937749 single base substitution T G intron_variant ESAD-UK 10 49937945 49937945 single base substitution G T intron_variant ESAD-UK 10 49937957 49937957 single base substitution T C intron_variant ESAD-UK 10 49938139 49938139 single base substitution A C intron_variant ESAD-UK 10 49938207 49938207 single base substitution G C intron_variant ESAD-UK 10 49938213 49938213 single base substitution T C intron_variant ESAD-UK 10 49939433 49939433 single base substitution G A missense_variant V470I 1408G>A ESAD-UK 10 49939455 49939455 single base substitution G A missense_variant S477N 1430G>A ESAD-UK 10 49939535 49939535 single base substitution T A missense_variant F504I 1510T>A ESAD-UK 10 49940551 49940551 single base substitution A T intron_variant ESAD-UK 10 49941190 49941190 single base substitution T A intron_variant ESAD-UK 10 49942169 49942169 single base substitution T G intron_variant ESAD-UK 10 49942192 49942192 single base substitution G A intron_variant ESAD-UK 10 49942734 49942734 single base substitution G T intron_variant ESAD-UK 10 49943055 49943055 single base substitution C A intron_variant ESAD-UK 10 49943283 49943283 single base substitution C A intron_variant ESAD-UK 10 49944377 49944377 single base substitution A C downstream_gene_variant ESAD-UK 10 49944377 49944377 single base substitution A C intron_variant ESAD-UK 10 49944379 49944379 single base substitution T C downstream_gene_variant ESAD-UK 10 49944379 49944379 single base substitution T C intron_variant ESAD-UK 10 49944379 49944379 single base substitution T G downstream_gene_variant ESAD-UK 10 49944379 49944379 single base substitution T G intron_variant ESAD-UK 10 49944690 49944690 single base substitution A G downstream_gene_variant ESAD-UK 10 49944690 49944690 single base substitution A G intron_variant ESAD-UK 10 49944937 49944937 single base substitution A C downstream_gene_variant ESAD-UK 10 49944937 49944937 single base substitution A C intron_variant ESAD-UK 10 49945181 49945181 single base substitution A T downstream_gene_variant ESAD-UK 10 49945181 49945181 single base substitution A T intron_variant ESAD-UK 10 49945214 49945214 single base substitution T C downstream_gene_variant ESAD-UK 10 49945214 49945214 single base substitution T C intron_variant ESAD-UK 10 49945305 49945305 single base substitution T G downstream_gene_variant ESAD-UK 10 49945305 49945305 single base substitution T G intron_variant ESAD-UK 10 49945555 49945555 single base substitution G C downstream_gene_variant ESAD-UK 10 49945555 49945555 single base substitution G C intron_variant ESAD-UK 10 49947153 49947153 single base substitution A T downstream_gene_variant ESAD-UK 10 49947153 49947153 single base substitution A T intron_variant ESAD-UK 10 49947365 49947365 single base substitution A G downstream_gene_variant ESAD-UK 10 49947365 49947365 single base substitution A G intron_variant ESAD-UK 10 49948474 49948474 single base substitution T G downstream_gene_variant ESAD-UK 10 49948474 49948474 single base substitution T G intron_variant ESAD-UK 10 49948671 49948671 single base substitution T G downstream_gene_variant ESAD-UK 10 49948671 49948671 single base substitution T G intron_variant ESAD-UK 10 49949328 49949328 single base substitution G T intron_variant ESAD-UK 10 49950027 49950027 single base substitution C A intron_variant ESAD-UK 10 49950842 49950842 single base substitution G A intron_variant ESAD-UK 10 49950958 49950958 single base substitution T C intron_variant ESAD-UK 10 49952108 49952108 single base substitution T G intron_variant ESAD-UK 10 49952323 49952323 single base substitution C T intron_variant ESAD-UK 10 49953790 49953790 single base substitution T C intron_variant ESAD-UK 10 49954228 49954228 single base substitution C G intron_variant ESAD-UK 10 49954669 49954669 single base substitution A T intron_variant ESAD-UK 10 49955115 49955115 single base substitution A T intron_variant ESAD-UK 10 49955758 49955758 single base substitution T G intron_variant ESAD-UK 10 49956289 49956289 single base substitution G A intron_variant ESAD-UK 10 49956290 49956290 single base substitution T C intron_variant ESAD-UK 10 49956530 49956530 insertion of <=200bp - T intron_variant ESAD-UK 10 49956719 49956719 single base substitution T G intron_variant ESAD-UK 10 49956736 49956736 single base substitution T C intron_variant ESAD-UK 10 49957470 49957470 single base substitution A C intron_variant ESAD-UK 10 49958337 49958337 single base substitution T C intron_variant ESAD-UK 10 49958532 49958532 single base substitution T G intron_variant ESAD-UK 10 49960399 49960399 single base substitution T C intron_variant ESAD-UK 10 49960879 49960879 single base substitution G T intron_variant ESAD-UK 10 49961278 49961278 single base substitution A C intron_variant ESAD-UK 10 49961343 49961343 single base substitution T G intron_variant ESAD-UK 10 49961422 49961422 single base substitution T C intron_variant ESAD-UK 10 49961470 49961470 single base substitution T A intron_variant ESAD-UK 10 49962673 49962673 single base substitution C G intron_variant ESAD-UK 10 49963293 49963293 single base substitution T G intron_variant ESAD-UK 10 49963530 49963530 single base substitution A C intron_variant ESAD-UK 10 49963756 49963756 single base substitution T G intron_variant ESAD-UK 10 49964280 49964280 single base substitution C A intron_variant ESAD-UK 10 49964902 49964902 single base substitution T C intron_variant ESAD-UK 10 49965849 49965849 single base substitution T C intron_variant ESAD-UK 10 49965977 49965977 single base substitution C G intron_variant ESAD-UK 10 49965995 49965995 single base substitution C A intron_variant ESAD-UK 10 49966002 49966002 single base substitution C T intron_variant ESAD-UK 10 49966224 49966224 single base substitution C T intron_variant ESAD-UK 10 49966338 49966338 single base substitution G A intron_variant ESAD-UK 10 49966542 49966542 insertion of <=200bp - T intron_variant ESAD-UK 10 49966569 49966569 single base substitution C T intron_variant ESAD-UK 10 49966783 49966783 single base substitution T G intron_variant ESAD-UK 10 49967391 49967391 single base substitution T G intron_variant ESAD-UK 10 49967592 49967592 single base substitution C A intron_variant ESAD-UK 10 49967898 49967898 single base substitution T G intron_variant ESAD-UK 10 49968704 49968704 single base substitution T G intron_variant ESAD-UK 10 49969094 49969094 single base substitution A T intron_variant ESAD-UK 10 49969719 49969719 single base substitution A C intron_variant ESAD-UK 10 49969743 49969743 single base substitution A C intron_variant ESAD-UK 10 49969769 49969769 single base substitution A G intron_variant ESAD-UK 10 49969801 49969801 single base substitution G A intron_variant ESAD-UK 10 49970060 49970060 single base substitution T C intron_variant ESAD-UK 10 49970132 49970132 single base substitution T G intron_variant ESAD-UK 10 49970155 49970155 single base substitution C T intron_variant ESAD-UK 10 49970391 49970391 single base substitution G C intron_variant ESAD-UK 10 49970401 49970401 single base substitution T C intron_variant ESAD-UK 10 49971134 49971134 single base substitution C A intron_variant ESAD-UK 10 49971135 49971135 single base substitution T C intron_variant ESAD-UK 10 49971297 49971297 single base substitution G A intron_variant ESAD-UK 10 49971579 49971579 single base substitution T C intron_variant ESAD-UK 10 49971687 49971687 single base substitution T G intron_variant ESAD-UK 10 49971843 49971843 single base substitution T G intron_variant ESAD-UK 10 49974307 49974307 single base substitution A G intron_variant ESAD-UK 10 49974308 49974308 single base substitution A C intron_variant ESAD-UK 10 49974310 49974310 single base substitution A C intron_variant ESAD-UK 10 49974340 49974340 single base substitution A C intron_variant ESAD-UK 10 49974476 49974476 single base substitution T G intron_variant ESAD-UK 10 49974639 49974639 deletion of <=200bp A - intron_variant ESAD-UK 10 49974648 49974648 single base substitution C A intron_variant ESAD-UK 10 49975086 49975086 single base substitution A C intron_variant ESAD-UK 10 49976168 49976168 single base substitution T C intron_variant ESAD-UK 10 49977768 49977768 single base substitution C T intron_variant ESAD-UK 10 49978109 49978109 single base substitution T G intron_variant ESAD-UK 10 49978265 49978265 single base substitution T C intron_variant ESAD-UK 10 49978322 49978322 single base substitution T A intron_variant ESAD-UK 10 49979591 49979591 single base substitution C G intron_variant ESAD-UK 10 49981744 49981744 single base substitution C T intron_variant ESAD-UK 10 49981932 49981932 single base substitution C A intron_variant ESAD-UK 10 49982319 49982319 insertion of <=200bp - C intron_variant ESAD-UK 10 49982429 49982429 single base substitution A C intron_variant ESAD-UK 10 49982861 49982861 single base substitution G T intron_variant ESAD-UK 10 49983013 49983013 single base substitution A T intron_variant ESAD-UK 10 49983357 49983357 single base substitution T G intron_variant ESAD-UK 10 49983488 49983488 single base substitution A C intron_variant ESAD-UK 10 49983623 49983623 single base substitution T C intron_variant ESAD-UK 10 49983762 49983762 single base substitution T C missense_variant F925S 2774T>C ESAD-UK 10 49985335 49985335 single base substitution T G intron_variant ESAD-UK 10 49985706 49985706 single base substitution G T intron_variant ESAD-UK 10 49986866 49986866 single base substitution T C intron_variant ESAD-UK 10 49986866 49986866 single base substitution T C missense_variant F1129S 3386T>C ESAD-UK 10 49987082 49987082 single base substitution A C intron_variant ESAD-UK 10 49987443 49987443 single base substitution A C intron_variant ESAD-UK 10 49987651 49987651 single base substitution T C intron_variant ESAD-UK 10 49987682 49987682 single base substitution G T intron_variant ESAD-UK 10 49989135 49989135 single base substitution T G intron_variant ESAD-UK 10 49989509 49989509 single base substitution T G intron_variant ESAD-UK 10 49989915 49989915 single base substitution A G intron_variant ESAD-UK 10 49989975 49989975 single base substitution A G intron_variant ESAD-UK 10 49990052 49990052 single base substitution T C intron_variant ESAD-UK 10 49990187 49990187 single base substitution T A intron_variant ESAD-UK 10 49990623 49990623 single base substitution G A intron_variant ESAD-UK 10 49990642 49990642 single base substitution A C intron_variant ESAD-UK 10 49990743 49990743 single base substitution T G intron_variant ESAD-UK 10 49993499 49993499 single base substitution T C intron_variant ESAD-UK 10 49993504 49993504 single base substitution A C intron_variant ESAD-UK 10 49993645 49993645 single base substitution T G intron_variant ESAD-UK 10 49993792 49993792 single base substitution A C intron_variant ESAD-UK 10 49994734 49994734 single base substitution C T intron_variant ESAD-UK 10 49994734 49994734 single base substitution C T synonymous_variant S1209S 3627C>T ESAD-UK 10 49994871 49994871 single base substitution T G intron_variant ESAD-UK 10 49994871 49994871 single base substitution T G missense_variant L1255R 3764T>G ESAD-UK 10 49994899 49994899 single base substitution A G intron_variant ESAD-UK 10 49994899 49994899 single base substitution A G synonymous_variant Q1264Q 3792A>G ESAD-UK 10 49995292 49995292 single base substitution T A intron_variant ESAD-UK 10 49995479 49995479 single base substitution A C intron_variant ESAD-UK 10 49996339 49996339 single base substitution G T intron_variant ESAD-UK 10 49996377 49996377 single base substitution G A intron_variant ESAD-UK 10 49997092 49997092 single base substitution T A intron_variant ESAD-UK 10 49997136 49997136 single base substitution T C intron_variant ESAD-UK 10 49997206 49997206 single base substitution C A intron_variant ESAD-UK 10 49998055 49998055 single base substitution C T intron_variant ESAD-UK 10 49998229 49998229 single base substitution T C intron_variant ESAD-UK 10 49998564 49998564 single base substitution A G intron_variant ESAD-UK 10 49998607 49998607 single base substitution A C intron_variant ESAD-UK 10 49998778 49998778 single base substitution G A intron_variant ESAD-UK 10 49998778 49998778 single base substitution G A missense_variant R1358K 4073G>A ESAD-UK 10 49999173 49999173 single base substitution T C intron_variant ESAD-UK 10 49999603 49999603 single base substitution C A intron_variant ESAD-UK 10 49999756 49999756 single base substitution A G intron_variant ESAD-UK 10 49999825 49999825 single base substitution G T intron_variant ESAD-UK 10 50000308 50000308 single base substitution C A intron_variant ESAD-UK 10 50000985 50000985 single base substitution A G intron_variant ESAD-UK 10 50001651 50001651 single base substitution C T intron_variant ESAD-UK 10 50002155 50002155 single base substitution C A intron_variant ESAD-UK 10 50002414 50002414 single base substitution G A intron_variant ESAD-UK 10 50002829 50002829 single base substitution G A intron_variant ESAD-UK 10 50004136 50004136 single base substitution G C intron_variant ESAD-UK 10 50004159 50004159 single base substitution A C intron_variant ESAD-UK 10 50004622 50004622 deletion of <=200bp C - intron_variant ESAD-UK 10 50004824 50004824 single base substitution A G intron_variant ESAD-UK 10 50005542 50005542 single base substitution T G intron_variant ESAD-UK 10 50005846 50005846 single base substitution A C intron_variant ESAD-UK 10 50005846 50005846 single base substitution A C upstream_gene_variant ESAD-UK 10 50005968 50005968 single base substitution A G intron_variant ESAD-UK 10 50005968 50005968 single base substitution A G upstream_gene_variant ESAD-UK 10 50006444 50006444 single base substitution A G intron_variant ESAD-UK 10 50006444 50006444 single base substitution A G upstream_gene_variant ESAD-UK 10 50006573 50006573 single base substitution T G intron_variant ESAD-UK 10 50006573 50006573 single base substitution T G upstream_gene_variant ESAD-UK 10 50006977 50006977 single base substitution A G intron_variant ESAD-UK 10 50006977 50006977 single base substitution A G upstream_gene_variant ESAD-UK 10 50007501 50007501 single base substitution A C intron_variant ESAD-UK 10 50007501 50007501 single base substitution A C upstream_gene_variant ESAD-UK 10 50007711 50007711 single base substitution G A intron_variant ESAD-UK 10 50007711 50007711 single base substitution G A upstream_gene_variant ESAD-UK 10 50008286 50008286 single base substitution C T intron_variant ESAD-UK 10 50008286 50008286 single base substitution C T upstream_gene_variant ESAD-UK 10 50008305 50008305 single base substitution T G intron_variant ESAD-UK 10 50008305 50008305 single base substitution T G upstream_gene_variant ESAD-UK 10 50008457 50008457 single base substitution A G intron_variant ESAD-UK 10 50008457 50008457 single base substitution A G upstream_gene_variant ESAD-UK 10 50008460 50008460 single base substitution C A intron_variant ESAD-UK 10 50008460 50008460 single base substitution C A upstream_gene_variant ESAD-UK 10 50009415 50009415 single base substitution T G intron_variant ESAD-UK 10 50009415 50009415 single base substitution T G upstream_gene_variant ESAD-UK 10 50009494 50009494 single base substitution A C intron_variant ESAD-UK 10 50009494 50009494 single base substitution A C upstream_gene_variant ESAD-UK 10 50009707 50009707 single base substitution C T intron_variant ESAD-UK 10 50009707 50009707 single base substitution C T upstream_gene_variant ESAD-UK 10 50009853 50009853 single base substitution G T intron_variant ESAD-UK 10 50009853 50009853 single base substitution G T upstream_gene_variant ESAD-UK 10 50010342 50010342 single base substitution G T intron_variant ESAD-UK 10 50010342 50010342 single base substitution G T upstream_gene_variant ESAD-UK 10 50010433 50010433 single base substitution G T intron_variant ESAD-UK 10 50010433 50010433 single base substitution G T upstream_gene_variant ESAD-UK 10 50011003 50011003 single base substitution T G intron_variant ESAD-UK 10 50011403 50011403 single base substitution A G intron_variant ESAD-UK 10 50011403 50011403 single base substitution A G missense_variant R1495G 4483A>G ESAD-UK 10 50011403 50011403 single base substitution A G missense_variant R41G 121A>G ESAD-UK 10 50011432 50011432 single base substitution T C intron_variant ESAD-UK 10 50011499 50011499 single base substitution C A intron_variant ESAD-UK 10 50011991 50011991 single base substitution A C intron_variant ESAD-UK 10 50014434 50014434 single base substitution G T intron_variant ESAD-UK 10 50014753 50014753 single base substitution C T intron_variant ESAD-UK 10 50015016 50015016 single base substitution T G intron_variant ESAD-UK 10 50015612 50015612 single base substitution T A intron_variant ESAD-UK 10 50016922 50016922 single base substitution G C intron_variant ESAD-UK 10 50018303 50018303 single base substitution G A intron_variant ESAD-UK 10 50018360 50018360 single base substitution T C intron_variant ESAD-UK 10 50018705 50018705 single base substitution C T 3_prime_UTR_variant ESAD-UK 10 50018705 50018705 single base substitution C T missense_variant R1657C 4969C>T ESAD-UK 10 50018705 50018705 single base substitution C T missense_variant R203C 607C>T ESAD-UK 10 50019144 50019144 single base substitution C T intron_variant ESAD-UK 10 50019388 50019388 single base substitution G T intron_variant ESAD-UK 10 50019890 50019890 single base substitution C G intron_variant ESAD-UK 10 50020809 50020809 single base substitution A C intron_variant ESAD-UK 10 50021555 50021555 single base substitution C G intron_variant ESAD-UK 10 50022157 50022157 single base substitution A G intron_variant ESAD-UK 10 50022298 50022298 single base substitution A C intron_variant ESAD-UK 10 50022628 50022628 single base substitution C T intron_variant ESAD-UK 10 50023220 50023220 single base substitution A G intron_variant ESAD-UK 10 50023352 50023352 single base substitution C A intron_variant ESAD-UK 10 50023593 50023593 single base substitution T C intron_variant ESAD-UK 10 50024407 50024407 single base substitution T G intron_variant ESAD-UK 10 50024407 50024407 single base substitution T G upstream_gene_variant ESAD-UK 10 50024409 50024409 single base substitution G A intron_variant ESAD-UK 10 50024409 50024409 single base substitution G A upstream_gene_variant ESAD-UK 10 50024487 50024487 single base substitution T A intron_variant ESAD-UK 10 50024487 50024487 single base substitution T A upstream_gene_variant ESAD-UK 10 50024942 50024942 single base substitution A C intron_variant ESAD-UK 10 50024942 50024942 single base substitution A C upstream_gene_variant ESAD-UK 10 50025571 50025571 single base substitution T A intron_variant ESAD-UK 10 50025571 50025571 single base substitution T A upstream_gene_variant ESAD-UK 10 50025834 50025834 single base substitution T C intron_variant ESAD-UK 10 50025834 50025834 single base substitution T C upstream_gene_variant ESAD-UK 10 50025834 50025834 single base substitution T G intron_variant ESAD-UK 10 50025834 50025834 single base substitution T G upstream_gene_variant ESAD-UK 10 50025948 50025948 single base substitution G T intron_variant ESAD-UK 10 50025948 50025948 single base substitution G T upstream_gene_variant ESAD-UK 10 50026520 50026520 single base substitution A G intron_variant ESAD-UK 10 50026520 50026520 single base substitution A G upstream_gene_variant ESAD-UK 10 50026546 50026546 single base substitution C T intron_variant ESAD-UK 10 50026546 50026546 single base substitution C T upstream_gene_variant ESAD-UK 10 50026838 50026838 single base substitution T G intron_variant ESAD-UK 10 50026838 50026838 single base substitution T G upstream_gene_variant ESAD-UK 10 50027398 50027398 single base substitution A G intron_variant ESAD-UK 10 50027398 50027398 single base substitution A G upstream_gene_variant ESAD-UK 10 50027660 50027660 single base substitution A G intron_variant ESAD-UK 10 50027660 50027660 single base substitution A G upstream_gene_variant ESAD-UK 10 50028381 50028381 single base substitution G A 3_prime_UTR_variant ESAD-UK 10 50028381 50028381 single base substitution G A missense_variant A1870T 5608G>A ESAD-UK 10 50028381 50028381 single base substitution G A missense_variant A416T 1246G>A ESAD-UK 10 50028381 50028381 single base substitution G A upstream_gene_variant ESAD-UK 10 50028536 50028536 single base substitution C T intron_variant ESAD-UK 10 50028536 50028536 single base substitution C T upstream_gene_variant ESAD-UK 10 50028837 50028837 single base substitution C T intron_variant ESAD-UK 10 50028837 50028837 single base substitution C T upstream_gene_variant ESAD-UK 10 50029456 50029456 single base substitution A G intron_variant ESAD-UK 10 50029543 50029543 single base substitution A G intron_variant ESAD-UK 10 50029678 50029678 single base substitution T G intron_variant ESAD-UK 10 50031250 50031250 single base substitution A G intron_variant ESAD-UK 10 50031250 50031250 single base substitution A G synonymous_variant R548R 1644A>G ESAD-UK 10 50031419 50031419 single base substitution T G 3_prime_UTR_variant ESAD-UK 10 50031419 50031419 single base substitution T G intron_variant ESAD-UK 10 50031472 50031472 single base substitution C G 3_prime_UTR_variant ESAD-UK 10 50031472 50031472 single base substitution C G intron_variant ESAD-UK 10 50032242 50032242 single base substitution T G downstream_gene_variant ESAD-UK 10 50032242 50032242 single base substitution T G intron_variant ESAD-UK 10 50032330 50032330 single base substitution G A downstream_gene_variant ESAD-UK 10 50032330 50032330 single base substitution G A intron_variant ESAD-UK 10 50032413 50032413 single base substitution T G downstream_gene_variant ESAD-UK 10 50032413 50032413 single base substitution T G intron_variant ESAD-UK 10 50032573 50032573 deletion of <=200bp T - downstream_gene_variant ESAD-UK 10 50032573 50032573 deletion of <=200bp T - intron_variant ESAD-UK 10 50032901 50032901 single base substitution G T downstream_gene_variant ESAD-UK 10 50032901 50032901 single base substitution G T intron_variant ESAD-UK 10 50033077 50033077 single base substitution G T downstream_gene_variant ESAD-UK 10 50033077 50033077 single base substitution G T intron_variant ESAD-UK 10 50033347 50033347 single base substitution A G downstream_gene_variant ESAD-UK 10 50033347 50033347 single base substitution A G intron_variant ESAD-UK 10 50034463 50034463 deletion of <=200bp T - downstream_gene_variant ESAD-UK 10 50034463 50034463 deletion of <=200bp T - intron_variant ESAD-UK 10 50034604 50034604 single base substitution G A downstream_gene_variant ESAD-UK 10 50034604 50034604 single base substitution G A intron_variant ESAD-UK 10 50034728 50034728 single base substitution G T 3_prime_UTR_variant ESAD-UK 10 50034728 50034728 single base substitution G T downstream_gene_variant ESAD-UK 10 50034728 50034728 single base substitution G T missense_variant A1999S 5995G>T ESAD-UK 10 50034728 50034728 single base substitution G T missense_variant A85S 253G>T ESAD-UK 10 50034962 50034962 single base substitution C G downstream_gene_variant ESAD-UK 10 50034962 50034962 single base substitution C G splice_region_variant ESAD-UK 10 50035260 50035260 single base substitution T G downstream_gene_variant ESAD-UK 10 50035260 50035260 single base substitution T G intron_variant ESAD-UK 10 50035261 50035261 single base substitution T G downstream_gene_variant ESAD-UK 10 50035261 50035261 single base substitution T G intron_variant ESAD-UK 10 50035577 50035577 single base substitution C T downstream_gene_variant ESAD-UK 10 50035577 50035577 single base substitution C T intron_variant ESAD-UK 10 50035790 50035790 single base substitution T G downstream_gene_variant ESAD-UK 10 50035790 50035790 single base substitution T G intron_variant ESAD-UK 10 50036212 50036212 single base substitution C T downstream_gene_variant ESAD-UK 10 50036212 50036212 single base substitution C T intron_variant ESAD-UK 10 50036340 50036340 single base substitution A C downstream_gene_variant ESAD-UK 10 50036340 50036340 single base substitution A C intron_variant ESAD-UK 10 50036508 50036508 single base substitution A C downstream_gene_variant ESAD-UK 10 50036508 50036508 single base substitution A C intron_variant ESAD-UK 10 50036691 50036691 single base substitution G A downstream_gene_variant ESAD-UK 10 50036691 50036691 single base substitution G A intron_variant ESAD-UK 10 50036716 50036716 single base substitution G A downstream_gene_variant ESAD-UK 10 50036716 50036716 single base substitution G A intron_variant ESAD-UK 10 50036774 50036774 single base substitution A G downstream_gene_variant ESAD-UK 10 50036774 50036774 single base substitution A G intron_variant ESAD-UK 10 50036837 50036837 single base substitution T G 3_prime_UTR_variant ESAD-UK 10 50036837 50036837 single base substitution T G downstream_gene_variant ESAD-UK 10 50036837 50036837 single base substitution T G missense_variant F165C 494T>G ESAD-UK 10 50036837 50036837 single base substitution T G missense_variant F2079C 6236T>G ESAD-UK 10 50036840 50036840 single base substitution G C 3_prime_UTR_variant ESAD-UK 10 50036840 50036840 single base substitution G C downstream_gene_variant ESAD-UK 10 50036840 50036840 single base substitution G C missense_variant G166A 497G>C ESAD-UK 10 50036840 50036840 single base substitution G C missense_variant G2080A 6239G>C ESAD-UK 10 50037193 50037193 single base substitution G A downstream_gene_variant ESAD-UK 10 50037193 50037193 single base substitution G A intron_variant ESAD-UK 10 50037347 50037347 single base substitution C A intron_variant ESAD-UK 10 50037690 50037690 single base substitution T G intron_variant ESAD-UK 10 50037890 50037890 single base substitution T C intron_variant ESAD-UK 10 50037890 50037890 single base substitution T G intron_variant ESAD-UK 10 50037963 50037963 single base substitution C A intron_variant ESAD-UK 10 50038029 50038029 single base substitution G T intron_variant ESAD-UK 10 50038101 50038101 single base substitution G C intron_variant ESAD-UK 10 50038437 50038437 single base substitution A T intron_variant ESAD-UK 10 50039502 50039502 single base substitution T G intron_variant ESAD-UK 10 50039695 50039695 single base substitution A G intron_variant ESAD-UK 10 50040027 50040027 single base substitution T C intron_variant ESAD-UK 10 50040200 50040200 single base substitution A G intron_variant ESAD-UK 10 50040410 50040410 single base substitution A G intron_variant ESAD-UK 10 50040791 50040791 single base substitution G T intron_variant ESAD-UK 10 50041041 50041041 single base substitution T A intron_variant ESAD-UK 10 50041749 50041749 single base substitution T G intron_variant ESAD-UK 10 50041817 50041817 single base substitution T G intron_variant ESAD-UK 10 50041891 50041891 single base substitution G C intron_variant ESAD-UK 10 50041928 50041928 single base substitution T G intron_variant ESAD-UK 10 50042043 50042043 single base substitution T C intron_variant ESAD-UK 10 50042610 50042610 single base substitution T C intron_variant ESAD-UK 10 50042659 50042659 single base substitution T A intron_variant ESAD-UK 10 50042740 50042740 single base substitution A G intron_variant ESAD-UK 10 50042770 50042770 single base substitution A C intron_variant ESAD-UK 10 50043230 50043230 single base substitution A G intron_variant ESAD-UK 10 50043739 50043739 single base substitution T G intron_variant ESAD-UK 10 50043740 50043740 single base substitution T A intron_variant ESAD-UK 10 50043990 50043990 single base substitution T C intron_variant ESAD-UK 10 50044109 50044109 single base substitution G C intron_variant ESAD-UK 10 50044418 50044418 single base substitution C T intron_variant ESAD-UK 10 50044419 50044419 single base substitution G A intron_variant ESAD-UK 10 50044605 50044605 single base substitution A T intron_variant ESAD-UK 10 50044688 50044688 single base substitution T G intron_variant ESAD-UK 10 50044988 50044988 single base substitution C T intron_variant ESAD-UK 10 50045039 50045039 single base substitution T G intron_variant ESAD-UK 10 50046020 50046020 single base substitution G T intron_variant ESAD-UK 10 50046704 50046704 single base substitution A C intron_variant ESAD-UK 10 50047421 50047421 single base substitution A C intron_variant ESAD-UK 10 50048736 50048736 single base substitution A C intron_variant ESAD-UK 10 50049207 50049207 single base substitution A G intron_variant ESAD-UK 10 50049529 50049529 single base substitution T G intron_variant ESAD-UK 10 50049649 50049649 single base substitution A T intron_variant ESAD-UK 10 50049824 50049824 single base substitution C A intron_variant ESAD-UK 10 50050349 50050349 single base substitution A G intron_variant ESAD-UK 10 50050477 50050477 single base substitution T G intron_variant ESAD-UK 10 50050572 50050572 single base substitution T G intron_variant ESAD-UK 10 50050971 50050971 single base substitution T G intron_variant ESAD-UK 10 50051157 50051157 single base substitution C T intron_variant ESAD-UK 10 50051213 50051213 single base substitution G A intron_variant ESAD-UK 10 50051338 50051338 single base substitution C G intron_variant ESAD-UK 10 50052002 50052002 single base substitution A C intron_variant ESAD-UK 10 50052077 50052077 single base substitution G A intron_variant ESAD-UK 10 50052148 50052148 single base substitution G A intron_variant ESAD-UK 10 50053010 50053010 single base substitution A G intron_variant ESAD-UK 10 50053417 50053417 single base substitution T A intron_variant ESAD-UK 10 50053836 50053836 single base substitution A T intron_variant ESAD-UK 10 50053962 50053962 single base substitution A G intron_variant ESAD-UK 10 50054145 50054145 single base substitution A C intron_variant ESAD-UK 10 50054394 50054394 single base substitution C T intron_variant ESAD-UK 10 50054449 50054449 single base substitution A T intron_variant ESAD-UK 10 50054781 50054781 single base substitution A C intron_variant ESAD-UK 10 50054801 50054801 single base substitution T C intron_variant ESAD-UK 10 50054979 50054979 single base substitution T G intron_variant ESAD-UK 10 50055909 50055909 single base substitution T G intron_variant ESAD-UK 10 50055910 50055910 single base substitution T G intron_variant ESAD-UK 10 50055936 50055936 single base substitution A G intron_variant ESAD-UK 10 50055979 50055979 single base substitution T C intron_variant ESAD-UK 10 50055991 50055991 single base substitution G A intron_variant ESAD-UK 10 50056237 50056237 single base substitution T C intron_variant ESAD-UK 10 50056558 50056558 single base substitution C T intron_variant ESAD-UK 10 50056821 50056821 single base substitution C A intron_variant ESAD-UK 10 50057246 50057246 single base substitution A G intron_variant ESAD-UK 10 50057503 50057503 single base substitution T G intron_variant ESAD-UK 10 50057927 50057927 single base substitution T G intron_variant ESAD-UK 10 50058356 50058356 single base substitution G T intron_variant ESAD-UK 10 50059039 50059039 single base substitution A G intron_variant ESAD-UK 10 50059303 50059303 single base substitution T G intron_variant ESAD-UK 10 50059652 50059652 single base substitution T G intron_variant ESAD-UK 10 50059756 50059756 single base substitution G A intron_variant ESAD-UK 10 50060180 50060180 single base substitution T G intron_variant ESAD-UK 10 50060526 50060526 single base substitution A T intron_variant ESAD-UK 10 50060890 50060890 single base substitution G A intron_variant ESAD-UK 10 50061512 50061512 single base substitution C G intron_variant ESAD-UK 10 50061955 50061955 single base substitution A C intron_variant ESAD-UK 10 50061980 50061980 single base substitution T G intron_variant ESAD-UK 10 50062314 50062314 single base substitution C A intron_variant ESAD-UK 10 50062321 50062321 single base substitution T A intron_variant ESAD-UK 10 50062354 50062354 single base substitution T A intron_variant ESAD-UK 10 50062785 50062785 single base substitution A C intron_variant ESAD-UK 10 50062785 50062785 single base substitution A G intron_variant ESAD-UK 10 50062810 50062810 single base substitution T G intron_variant ESAD-UK 10 50062973 50062973 single base substitution T G intron_variant ESAD-UK 10 50063097 50063097 single base substitution A C intron_variant ESAD-UK 10 50063100 50063100 deletion of <=200bp A - intron_variant ESAD-UK 10 50063106 50063106 single base substitution A T intron_variant ESAD-UK 10 50063660 50063660 single base substitution T A intron_variant ESAD-UK 10 50063778 50063778 single base substitution T A intron_variant ESAD-UK 10 50064282 50064282 single base substitution G T intron_variant ESAD-UK 10 50064655 50064655 single base substitution C A intron_variant ESAD-UK 10 50064781 50064781 single base substitution G T intron_variant ESAD-UK 10 50065459 50065459 single base substitution T C intron_variant ESAD-UK 10 50065502 50065502 single base substitution G T intron_variant ESAD-UK 10 50065732 50065732 single base substitution A C intron_variant ESAD-UK 10 50066656 50066656 single base substitution G T intron_variant ESAD-UK 10 50066676 50066676 single base substitution C T intron_variant ESAD-UK 10 50066986 50066986 single base substitution A C intron_variant ESAD-UK 10 50067884 50067884 single base substitution A G intron_variant ESAD-UK 10 50070105 50070105 single base substitution A C intron_variant ESAD-UK 10 50070568 50070568 single base substitution T C intron_variant ESAD-UK 10 50070796 50070796 insertion of <=200bp - A intron_variant ESAD-UK 10 50071392 50071392 single base substitution T A intron_variant ESAD-UK 10 50071534 50071534 single base substitution A G intron_variant ESAD-UK 10 50071812 50071812 single base substitution A G intron_variant ESAD-UK 10 50072238 50072238 single base substitution C T intron_variant ESAD-UK 10 50072769 50072769 single base substitution T G intron_variant ESAD-UK 10 50072830 50072830 single base substitution T C intron_variant ESAD-UK 10 50073440 50073440 single base substitution C T intron_variant ESAD-UK 10 50073532 50073532 single base substitution C T intron_variant ESAD-UK 10 50073652 50073652 single base substitution T C intron_variant ESAD-UK 10 50074733 50074733 single base substitution T G intron_variant ESAD-UK 10 50075169 50075169 single base substitution T C intron_variant ESAD-UK 10 50076373 50076373 single base substitution A C intron_variant ESAD-UK 10 50076481 50076481 single base substitution G A intron_variant ESAD-UK 10 50076738 50076738 single base substitution C T intron_variant ESAD-UK 10 50076798 50076798 single base substitution C T intron_variant ESAD-UK 10 50077576 50077576 single base substitution T G intron_variant ESAD-UK 10 50077650 50077650 single base substitution A G intron_variant ESAD-UK 10 50077742 50077742 single base substitution T G intron_variant ESAD-UK 10 50077984 50077984 insertion of <=200bp - A intron_variant ESAD-UK 10 50078022 50078022 single base substitution C T intron_variant ESAD-UK 10 50078415 50078415 deletion of <=200bp A - intron_variant ESAD-UK 10 50078415 50078416 deletion of <=200bp AA - intron_variant ESAD-UK 10 50078418 50078418 single base substitution A C intron_variant ESAD-UK 10 50078421 50078421 single base substitution A T intron_variant ESAD-UK 10 50078505 50078505 single base substitution C G intron_variant ESAD-UK 10 50078535 50078535 single base substitution A T intron_variant ESAD-UK 10 50078680 50078680 single base substitution A C intron_variant ESAD-UK 10 50079510 50079510 single base substitution G C intron_variant ESAD-UK 10 50079518 50079519 deletion of <=200bp CT - intron_variant ESAD-UK 10 50080301 50080301 single base substitution G T intron_variant ESAD-UK 10 50080783 50080783 single base substitution A C intron_variant ESAD-UK 10 50081073 50081073 single base substitution T C intron_variant ESAD-UK 10 50081408 50081408 single base substitution G T intron_variant ESAD-UK 10 50081704 50081704 single base substitution T G 3_prime_UTR_variant ESAD-UK 10 50081704 50081704 single base substitution T G missense_variant L2304V 6910T>G ESAD-UK 10 50081704 50081704 single base substitution T G missense_variant L390V 1168T>G ESAD-UK 10 50081933 50081933 single base substitution C T intron_variant ESAD-UK 10 50082261 50082261 single base substitution C A intron_variant ESAD-UK 10 50082352 50082352 single base substitution A G intron_variant ESAD-UK 10 50082358 50082358 single base substitution C A intron_variant ESAD-UK 10 50082530 50082530 single base substitution T G intron_variant ESAD-UK 10 50082614 50082614 single base substitution T G intron_variant ESAD-UK 10 50082676 50082676 single base substitution T G intron_variant ESAD-UK 10 50082899 50082899 single base substitution A C intron_variant ESAD-UK 10 50082915 50082915 single base substitution A C intron_variant ESAD-UK 10 50083575 50083575 single base substitution T A intron_variant ESAD-UK 10 50083871 50083871 single base substitution T A intron_variant ESAD-UK 10 50084284 50084284 single base substitution T G intron_variant ESAD-UK 10 50084345 50084345 single base substitution G A intron_variant ESAD-UK 10 50084418 50084418 single base substitution T C intron_variant ESAD-UK 10 50085273 50085273 single base substitution A G intron_variant ESAD-UK 10 50085443 50085443 single base substitution C A intron_variant ESAD-UK 10 50085587 50085587 single base substitution T G intron_variant ESAD-UK 10 50085680 50085680 single base substitution G A intron_variant ESAD-UK 10 50085940 50085940 single base substitution A C intron_variant ESAD-UK 10 50086578 50086578 single base substitution C A intron_variant ESAD-UK 10 50087213 50087213 single base substitution T G intron_variant ESAD-UK 10 50087613 50087613 single base substitution C A intron_variant ESAD-UK 10 50087617 50087617 single base substitution A G intron_variant ESAD-UK 10 50087620 50087620 single base substitution C G intron_variant ESAD-UK 10 50089077 50089077 single base substitution T A intron_variant ESAD-UK 10 50089270 50089270 single base substitution A C intron_variant ESAD-UK 10 50089385 50089385 single base substitution T G intron_variant ESAD-UK 10 50089984 50089984 single base substitution T A intron_variant ESAD-UK 10 50089984 50089984 single base substitution T C intron_variant ESAD-UK 10 50090211 50090211 single base substitution T A intron_variant ESAD-UK 10 50090553 50090553 single base substitution A G intron_variant ESAD-UK 10 50090786 50090786 single base substitution G A intron_variant ESAD-UK 10 50090852 50090852 single base substitution A G intron_variant ESAD-UK 10 50091269 50091269 single base substitution T G intron_variant ESAD-UK 10 50091343 50091343 single base substitution A G intron_variant ESAD-UK 10 50091459 50091459 single base substitution C G intron_variant ESAD-UK 10 50091747 50091747 single base substitution T G intron_variant ESAD-UK 10 50092272 50092272 single base substitution A G intron_variant ESAD-UK 10 50092776 50092776 single base substitution T G intron_variant ESAD-UK 10 50093254 50093254 single base substitution T C intron_variant ESAD-UK 10 50093388 50093388 single base substitution A T intron_variant ESAD-UK 10 50093955 50093955 single base substitution T G intron_variant ESAD-UK 10 50094756 50094756 single base substitution A G intron_variant ESAD-UK 10 50094853 50094853 single base substitution T A intron_variant ESAD-UK 10 50095658 50095658 single base substitution C T intron_variant ESAD-UK 10 50096689 50096689 single base substitution T A intron_variant ESAD-UK 10 50096776 50096776 single base substitution T G intron_variant ESAD-UK 10 50096832 50096832 single base substitution A C intron_variant ESAD-UK 10 50096893 50096893 single base substitution A C intron_variant ESAD-UK 10 50097001 50097001 single base substitution T C intron_variant ESAD-UK 10 50097208 50097208 single base substitution A C intron_variant ESAD-UK 10 50097535 50097535 single base substitution A C intron_variant ESAD-UK 10 50097552 50097552 insertion of <=200bp - G intron_variant ESAD-UK 10 50097610 50097610 single base substitution A G intron_variant ESAD-UK 10 50098289 50098289 single base substitution T G intron_variant ESAD-UK 10 50098685 50098685 single base substitution T C 3_prime_UTR_variant ESAD-UK 10 50098685 50098685 single base substitution T C missense_variant L2410P 7229T>C ESAD-UK 10 50098685 50098685 single base substitution T C missense_variant L496P 1487T>C ESAD-UK 10 50098747 50098747 single base substitution T A 3_prime_UTR_variant ESAD-UK 10 50098747 50098747 single base substitution T A missense_variant Y2431N 7291T>A ESAD-UK 10 50098747 50098747 single base substitution T A missense_variant Y517N 1549T>A ESAD-UK 10 50098906 50098906 single base substitution A C intron_variant ESAD-UK 10 50099221 50099221 single base substitution T C intron_variant ESAD-UK 10 50100058 50100058 single base substitution G A intron_variant ESAD-UK 10 50100185 50100185 single base substitution G A intron_variant ESAD-UK 10 50100402 50100402 single base substitution G T intron_variant ESAD-UK 10 50100695 50100695 single base substitution A C intron_variant ESAD-UK 10 50100698 50100698 single base substitution A C intron_variant ESAD-UK 10 50100939 50100939 single base substitution T G intron_variant ESAD-UK 10 50101039 50101039 single base substitution C A intron_variant ESAD-UK 10 50101114 50101114 single base substitution T A intron_variant ESAD-UK 10 50101489 50101489 single base substitution A G intron_variant ESAD-UK 10 50101793 50101793 single base substitution T G intron_variant ESAD-UK 10 50101886 50101886 single base substitution T C intron_variant ESAD-UK 10 50102796 50102796 single base substitution C A intron_variant ESAD-UK 10 50103141 50103141 single base substitution A T intron_variant ESAD-UK 10 50103989 50103989 single base substitution T G intron_variant ESAD-UK 10 50104391 50104391 single base substitution A T intron_variant ESAD-UK 10 50104437 50104437 single base substitution A G intron_variant ESAD-UK 10 50104445 50104445 single base substitution T C intron_variant ESAD-UK 10 50104514 50104514 single base substitution C G intron_variant ESAD-UK 10 50104525 50104525 single base substitution C T intron_variant ESAD-UK 10 50105320 50105320 single base substitution C G intron_variant ESAD-UK 10 50105484 50105484 single base substitution C G intron_variant ESAD-UK 10 50105502 50105502 single base substitution C T 3_prime_UTR_variant ESAD-UK 10 50105502 50105502 single base substitution C T synonymous_variant I2440I 7320C>T ESAD-UK 10 50105502 50105502 single base substitution C T synonymous_variant I526I 1578C>T ESAD-UK 10 50106222 50106222 single base substitution A G intron_variant ESAD-UK 10 50106327 50106327 single base substitution T C intron_variant ESAD-UK 10 50106500 50106500 single base substitution T C intron_variant ESAD-UK 10 50106548 50106548 single base substitution G C intron_variant ESAD-UK 10 50107117 50107117 single base substitution G T intron_variant ESAD-UK 10 50107539 50107539 single base substitution C T intron_variant ESAD-UK 10 50108003 50108003 single base substitution C T intron_variant ESAD-UK 10 50108824 50108824 single base substitution T G intron_variant ESAD-UK 10 50109042 50109042 single base substitution A C intron_variant ESAD-UK 10 50109256 50109256 single base substitution T G intron_variant ESAD-UK 10 50110109 50110109 single base substitution A C intron_variant ESAD-UK 10 50110396 50110396 single base substitution C T intron_variant ESAD-UK 10 50110397 50110397 single base substitution G A intron_variant ESAD-UK 10 50110462 50110462 single base substitution T G intron_variant ESAD-UK 10 50110504 50110504 single base substitution T G intron_variant ESAD-UK 10 50110879 50110879 single base substitution G C intron_variant ESAD-UK 10 50111756 50111756 single base substitution G A intron_variant ESAD-UK 10 50113223 50113223 single base substitution A T intron_variant ESAD-UK 10 50113620 50113620 single base substitution T C intron_variant ESAD-UK 10 50114010 50114010 single base substitution G T intron_variant ESAD-UK 10 50114121 50114121 single base substitution T C intron_variant ESAD-UK 10 50114514 50114514 single base substitution T A intron_variant ESAD-UK 10 50114544 50114544 single base substitution T G intron_variant ESAD-UK 10 50115724 50115724 single base substitution A G intron_variant ESAD-UK 10 50116565 50116565 single base substitution G A intron_variant ESAD-UK 10 50116851 50116851 single base substitution C G intron_variant ESAD-UK 10 50117425 50117425 insertion of <=200bp - T intron_variant ESAD-UK 10 50117451 50117451 single base substitution T C intron_variant ESAD-UK 10 50117543 50117543 single base substitution A G intron_variant ESAD-UK 10 50118162 50118162 single base substitution C T intron_variant ESAD-UK 10 50118729 50118729 single base substitution T C intron_variant ESAD-UK 10 50118906 50118906 single base substitution A T intron_variant ESAD-UK 10 50119420 50119420 single base substitution A G intron_variant ESAD-UK 10 50119479 50119479 single base substitution G C intron_variant ESAD-UK 10 50119503 50119503 single base substitution T C intron_variant ESAD-UK 10 50120360 50120360 single base substitution T G intron_variant ESAD-UK 10 50120420 50120420 single base substitution A C intron_variant ESAD-UK 10 50120461 50120461 single base substitution A G intron_variant ESAD-UK 10 50120828 50120828 single base substitution G C intron_variant ESAD-UK 10 50120899 50120899 single base substitution T C intron_variant ESAD-UK 10 50120986 50120986 single base substitution T C intron_variant ESAD-UK 10 50121290 50121290 single base substitution G A intron_variant ESAD-UK 10 50121387 50121387 single base substitution T C intron_variant ESAD-UK 10 50121390 50121390 single base substitution C T intron_variant ESAD-UK 10 50121829 50121829 single base substitution G A intron_variant ESAD-UK 10 50122101 50122101 single base substitution A G intron_variant ESAD-UK 10 50122163 50122163 single base substitution A C intron_variant ESAD-UK 10 50122217 50122217 single base substitution A T intron_variant ESAD-UK 10 50122226 50122226 single base substitution A C intron_variant ESAD-UK 10 50122260 50122260 single base substitution A G intron_variant ESAD-UK 10 50122291 50122291 single base substitution A G intron_variant ESAD-UK 10 50122586 50122586 single base substitution A C intron_variant ESAD-UK 10 50122618 50122618 single base substitution C T intron_variant ESAD-UK 10 50122738 50122738 single base substitution G T intron_variant ESAD-UK 10 50123569 50123569 single base substitution C T intron_variant ESAD-UK 10 50123667 50123667 single base substitution T C intron_variant ESAD-UK 10 50124413 50124413 single base substitution T C intron_variant ESAD-UK 10 50124424 50124424 single base substitution T G intron_variant ESAD-UK 10 50124593 50124593 single base substitution T C intron_variant ESAD-UK 10 50125294 50125294 single base substitution G T intron_variant ESAD-UK 10 50125326 50125326 single base substitution T G intron_variant ESAD-UK 10 50126350 50126350 single base substitution G T intron_variant ESAD-UK 10 50126672 50126672 single base substitution A T intron_variant ESAD-UK 10 50126959 50126959 single base substitution A C intron_variant ESAD-UK 10 50127331 50127331 deletion of <=200bp A - intron_variant ESAD-UK 10 50127511 50127511 single base substitution C A intron_variant ESAD-UK 10 50127733 50127733 single base substitution G C intron_variant ESAD-UK 10 50127940 50127940 single base substitution T C intron_variant ESAD-UK 10 50127981 50127981 single base substitution T G intron_variant ESAD-UK 10 50128289 50128289 single base substitution G A intron_variant ESAD-UK 10 50128598 50128598 single base substitution G T intron_variant ESAD-UK 10 50128867 50128867 single base substitution A C intron_variant ESAD-UK 10 50129038 50129038 single base substitution A G intron_variant ESAD-UK 10 50130609 50130609 single base substitution C T intron_variant ESAD-UK 10 50130880 50130880 single base substitution G T intron_variant ESAD-UK 10 50131102 50131102 insertion of <=200bp - A intron_variant ESAD-UK 10 50131384 50131384 single base substitution T G intron_variant ESAD-UK 10 50131731 50131731 single base substitution A G intron_variant ESAD-UK 10 50131856 50131856 single base substitution T G intron_variant ESAD-UK 10 50131921 50131921 single base substitution T A intron_variant ESAD-UK 10 50132222 50132222 single base substitution G A intron_variant ESAD-UK 10 50132288 50132288 single base substitution T A intron_variant ESAD-UK 10 50132385 50132385 single base substitution G A intron_variant ESAD-UK 10 50132979 50132979 single base substitution T G intron_variant ESAD-UK 10 50133855 50133855 single base substitution C G intron_variant ESAD-UK 10 50134008 50134008 single base substitution T G intron_variant ESAD-UK 10 50135842 50135842 single base substitution T C intron_variant ESAD-UK 10 50136000 50136000 single base substitution T C intron_variant ESAD-UK 10 50136043 50136043 single base substitution A C intron_variant ESAD-UK 10 50136360 50136360 single base substitution G A intron_variant ESAD-UK 10 50136723 50136723 single base substitution T G intron_variant ESAD-UK 10 50137461 50137461 single base substitution G T intron_variant ESAD-UK 10 50137777 50137777 single base substitution A G intron_variant ESAD-UK 10 50137785 50137785 single base substitution C A intron_variant ESAD-UK 10 50138239 50138239 single base substitution C G intron_variant ESAD-UK 10 50139220 50139220 single base substitution T G intron_variant ESAD-UK 10 50139763 50139763 single base substitution T G intron_variant ESAD-UK 10 50139775 50139775 single base substitution T G intron_variant ESAD-UK 10 50139775 50139776 deletion of <=200bp TT - intron_variant ESAD-UK 10 50140101 50140101 single base substitution C T intron_variant ESAD-UK 10 50141214 50141214 single base substitution T G intron_variant ESAD-UK 10 50141244 50141244 single base substitution A G intron_variant ESAD-UK 10 50141664 50141664 single base substitution A C intron_variant ESAD-UK 10 50141800 50141800 single base substitution C A intron_variant ESAD-UK 10 50141954 50141954 single base substitution A G intron_variant ESAD-UK 10 50142134 50142134 single base substitution C A intron_variant ESAD-UK 10 50142513 50142513 single base substitution A C intron_variant ESAD-UK 10 50143483 50143483 single base substitution C T intron_variant ESAD-UK 10 50143958 50143958 insertion of <=200bp - TC intron_variant ESAD-UK 10 50143986 50143986 single base substitution G A intron_variant ESAD-UK 10 50144237 50144237 single base substitution T A intron_variant ESAD-UK 10 50145678 50145678 single base substitution G T intron_variant ESAD-UK 10 50146247 50146247 single base substitution A G intron_variant ESAD-UK 10 50146322 50146322 single base substitution G A intron_variant ESAD-UK 10 50146790 50146790 single base substitution A C intron_variant ESAD-UK 10 50147065 50147065 single base substitution C T intron_variant ESAD-UK 10 50147738 50147738 single base substitution C T intron_variant ESAD-UK 10 50147963 50147963 single base substitution A C intron_variant ESAD-UK 10 50148127 50148127 single base substitution C A intron_variant ESAD-UK 10 50148128 50148128 single base substitution C A intron_variant ESAD-UK 10 50148280 50148280 single base substitution G T intron_variant ESAD-UK 10 50148675 50148675 single base substitution G A intron_variant ESAD-UK 10 50148949 50148949 single base substitution G A intron_variant ESAD-UK 10 50149083 50149083 single base substitution T C intron_variant ESAD-UK 10 50149338 50149338 single base substitution A C intron_variant ESAD-UK 10 50149338 50149338 single base substitution A C upstream_gene_variant ESAD-UK 10 50149445 50149445 single base substitution T A intron_variant ESAD-UK 10 50149445 50149445 single base substitution T A upstream_gene_variant ESAD-UK 10 50150136 50150136 single base substitution A C intron_variant ESAD-UK 10 50150136 50150136 single base substitution A C upstream_gene_variant ESAD-UK 10 50150616 50150616 single base substitution G A intron_variant ESAD-UK 10 50150616 50150616 single base substitution G A upstream_gene_variant ESAD-UK 10 50151074 50151074 single base substitution T G intron_variant ESAD-UK 10 50151074 50151074 single base substitution T G upstream_gene_variant ESAD-UK 10 50151242 50151242 single base substitution A C intron_variant ESAD-UK 10 50151242 50151242 single base substitution A C upstream_gene_variant ESAD-UK 10 50152350 50152350 single base substitution A T intron_variant ESAD-UK 10 50152350 50152350 single base substitution A T upstream_gene_variant ESAD-UK 10 50152682 50152682 single base substitution C T intron_variant ESAD-UK 10 50152682 50152682 single base substitution C T upstream_gene_variant ESAD-UK 10 50152908 50152908 single base substitution T G intron_variant ESAD-UK 10 50152908 50152908 single base substitution T G upstream_gene_variant ESAD-UK 10 50154101 50154101 single base substitution A C 3_prime_UTR_variant ESAD-UK 10 50154101 50154101 single base substitution A C exon_variant ESAD-UK 10 50154101 50154101 single base substitution A C missense_variant N2589T 7766A>C ESAD-UK 10 50154101 50154101 single base substitution A C missense_variant N675T 2024A>C ESAD-UK 10 50154461 50154461 single base substitution A C intron_variant ESAD-UK 10 50155129 50155129 single base substitution T G intron_variant ESAD-UK 10 50158067 50158067 single base substitution T C intron_variant ESAD-UK 10 50160022 50160022 single base substitution T G intron_variant ESAD-UK 10 50161268 50161268 single base substitution G A intron_variant ESAD-UK 10 50163041 50163041 single base substitution A C intron_variant ESAD-UK 10 50163887 50163887 single base substitution G A intron_variant ESAD-UK 10 50163965 50163965 single base substitution A C intron_variant ESAD-UK 10 50164031 50164031 single base substitution C A intron_variant ESAD-UK 10 50165547 50165547 single base substitution G A intron_variant ESAD-UK 10 50165995 50165995 single base substitution G A intron_variant ESAD-UK 10 50167313 50167313 single base substitution T C intron_variant ESAD-UK 10 50167834 50167834 single base substitution G A 3_prime_UTR_variant ESAD-UK 10 50167834 50167834 single base substitution G A exon_variant ESAD-UK 10 50167834 50167834 single base substitution G A synonymous_variant R2733R 8199G>A ESAD-UK 10 50167834 50167834 single base substitution G A synonymous_variant R819R 2457G>A ESAD-UK 10 50167849 50167849 single base substitution G T 3_prime_UTR_variant ESAD-UK 10 50167849 50167849 single base substitution G T exon_variant ESAD-UK 10 50167849 50167849 single base substitution G T synonymous_variant L2738L 8214G>T ESAD-UK 10 50167849 50167849 single base substitution G T synonymous_variant L824L 2472G>T ESAD-UK 10 50168234 50168234 single base substitution A C intron_variant ESAD-UK 10 50168234 50168234 single base substitution A T intron_variant ESAD-UK 10 50168236 50168236 single base substitution T C intron_variant ESAD-UK 10 50168237 50168237 single base substitution T G intron_variant ESAD-UK 10 50168430 50168430 single base substitution G A intron_variant ESAD-UK 10 50168870 50168870 single base substitution G T intron_variant ESAD-UK 10 50169014 50169014 single base substitution C T intron_variant ESAD-UK 10 50169212 50169212 single base substitution A C intron_variant ESAD-UK 10 50169282 50169282 single base substitution T C intron_variant ESAD-UK 10 50169497 50169497 single base substitution A T intron_variant ESAD-UK 10 50169527 50169527 single base substitution A C intron_variant ESAD-UK 10 50170064 50170064 single base substitution A G intron_variant ESAD-UK 10 50170393 50170393 single base substitution T G intron_variant ESAD-UK 10 50170430 50170430 single base substitution C A intron_variant ESAD-UK 10 50170441 50170441 single base substitution C A intron_variant ESAD-UK 10 50170860 50170860 single base substitution T G intron_variant ESAD-UK 10 50170966 50170966 single base substitution A C intron_variant ESAD-UK 10 50171175 50171175 single base substitution A C intron_variant ESAD-UK 10 50171638 50171638 single base substitution A C intron_variant ESAD-UK 10 50171740 50171740 single base substitution T C intron_variant ESAD-UK 10 50171874 50171874 single base substitution G T intron_variant ESAD-UK 10 50172137 50172137 single base substitution A C intron_variant ESAD-UK 10 50172137 50172137 single base substitution A C upstream_gene_variant ESAD-UK 10 50172298 50172298 single base substitution T C intron_variant ESAD-UK 10 50172298 50172298 single base substitution T C upstream_gene_variant ESAD-UK 10 50172547 50172547 single base substitution T G intron_variant ESAD-UK 10 50172547 50172547 single base substitution T G upstream_gene_variant ESAD-UK 10 50173104 50173104 single base substitution A G intron_variant ESAD-UK 10 50173104 50173104 single base substitution A G upstream_gene_variant ESAD-UK 10 50173474 50173474 single base substitution A C intron_variant ESAD-UK 10 50173474 50173474 single base substitution A C upstream_gene_variant ESAD-UK 10 50174079 50174079 single base substitution A T intron_variant ESAD-UK 10 50174079 50174079 single base substitution A T upstream_gene_variant ESAD-UK 10 50174309 50174309 single base substitution A C intron_variant ESAD-UK 10 50174309 50174309 single base substitution A C upstream_gene_variant ESAD-UK 10 50174663 50174663 single base substitution A G 3_prime_UTR_variant ESAD-UK 10 50174663 50174663 single base substitution A G exon_variant ESAD-UK 10 50174663 50174663 single base substitution A G synonymous_variant P2843P 8529A>G ESAD-UK 10 50174663 50174663 single base substitution A G synonymous_variant P929P 2787A>G ESAD-UK 10 50174663 50174663 single base substitution A G upstream_gene_variant ESAD-UK 10 50175129 50175129 single base substitution T G exon_variant ESAD-UK 10 50175129 50175129 single base substitution T G intron_variant ESAD-UK 10 50175129 50175129 single base substitution T G upstream_gene_variant ESAD-UK 10 50175455 50175455 single base substitution A G exon_variant ESAD-UK 10 50175455 50175455 single base substitution A G intron_variant ESAD-UK 10 50175455 50175455 single base substitution A G upstream_gene_variant ESAD-UK 10 50175685 50175685 single base substitution G T exon_variant ESAD-UK 10 50175685 50175685 single base substitution G T intron_variant ESAD-UK 10 50175685 50175685 single base substitution G T upstream_gene_variant ESAD-UK 10 50175866 50175866 single base substitution T G exon_variant ESAD-UK 10 50175866 50175866 single base substitution T G intron_variant ESAD-UK 10 50175866 50175866 single base substitution T G upstream_gene_variant ESAD-UK 10 50175904 50175904 single base substitution C G exon_variant ESAD-UK 10 50175904 50175904 single base substitution C G intron_variant ESAD-UK 10 50175904 50175904 single base substitution C G upstream_gene_variant ESAD-UK 10 50176105 50176105 single base substitution G T exon_variant ESAD-UK 10 50176105 50176105 single base substitution G T intron_variant ESAD-UK 10 50176105 50176105 single base substitution G T upstream_gene_variant ESAD-UK 10 50176580 50176580 single base substitution A G exon_variant ESAD-UK 10 50176580 50176580 single base substitution A G intron_variant ESAD-UK 10 50176580 50176580 single base substitution A G upstream_gene_variant ESAD-UK 10 50177622 50177622 single base substitution C A intron_variant ESAD-UK 10 50177866 50177866 single base substitution T G intron_variant ESAD-UK 10 50178401 50178401 single base substitution C G intron_variant ESAD-UK 10 50178497 50178497 single base substitution A C intron_variant ESAD-UK 10 50179257 50179257 single base substitution A C intron_variant ESAD-UK 10 50179861 50179861 single base substitution T G intron_variant ESAD-UK 10 50180596 50180596 single base substitution C T intron_variant ESAD-UK 10 50180754 50180754 single base substitution T G intron_variant ESAD-UK 10 50180819 50180819 single base substitution C A intron_variant ESAD-UK 10 50180820 50180820 single base substitution C A intron_variant ESAD-UK 10 50180908 50180908 single base substitution C G intron_variant ESAD-UK 10 50181420 50181420 single base substitution T G intron_variant ESAD-UK 10 50181420 50181420 single base substitution T G upstream_gene_variant ESAD-UK 10 50181442 50181442 single base substitution G A intron_variant ESAD-UK 10 50181442 50181442 single base substitution G A upstream_gene_variant ESAD-UK 10 50182052 50182052 single base substitution G A intron_variant ESAD-UK 10 50182052 50182052 single base substitution G A upstream_gene_variant ESAD-UK 10 50183026 50183026 single base substitution C T 3_prime_UTR_variant ESAD-UK 10 50183026 50183026 single base substitution C T exon_variant ESAD-UK 10 50183026 50183026 single base substitution C T synonymous_variant H1102H 3306C>T ESAD-UK 10 50183026 50183026 single base substitution C T synonymous_variant H3016H 9048C>T ESAD-UK 10 50183026 50183026 single base substitution C T upstream_gene_variant ESAD-UK 10 50184040 50184040 single base substitution C A intron_variant ESAD-UK 10 50184040 50184040 single base substitution C A upstream_gene_variant ESAD-UK 10 50185012 50185012 single base substitution C T 3_prime_UTR_variant ESAD-UK 10 50185012 50185012 single base substitution C T downstream_gene_variant ESAD-UK 10 50185012 50185012 single base substitution C T exon_variant ESAD-UK 10 50185012 50185012 single base substitution C T synonymous_variant D1179D 3537C>T ESAD-UK 10 50185012 50185012 single base substitution C T synonymous_variant D3093D 9279C>T ESAD-UK 10 50185012 50185012 single base substitution C T upstream_gene_variant ESAD-UK 10 50185023 50185023 single base substitution G A downstream_gene_variant ESAD-UK 10 50185023 50185023 single base substitution G A missense_variant R1183Q 3548G>A ESAD-UK 10 50185023 50185023 single base substitution G A missense_variant R3097Q 9290G>A ESAD-UK 10 50185023 50185023 single base substitution G A splice_region_variant ESAD-UK 10 50185023 50185023 single base substitution G A upstream_gene_variant ESAD-UK 10 50185467 50185467 single base substitution C T downstream_gene_variant ESAD-UK 10 50185467 50185467 single base substitution C T intron_variant ESAD-UK 10 50185467 50185467 single base substitution C T upstream_gene_variant ESAD-UK 10 50185780 50185780 single base substitution G C downstream_gene_variant ESAD-UK 10 50185780 50185780 single base substitution G C intron_variant ESAD-UK 10 50185780 50185780 single base substitution G C upstream_gene_variant ESAD-UK 10 50186080 50186080 single base substitution A T downstream_gene_variant ESAD-UK 10 50186080 50186080 single base substitution A T intron_variant ESAD-UK 10 50186080 50186080 single base substitution A T upstream_gene_variant ESAD-UK 10 50186393 50186393 single base substitution C T 3_prime_UTR_variant ESAD-UK 10 50186393 50186393 single base substitution C T downstream_gene_variant ESAD-UK 10 50186393 50186393 single base substitution C T exon_variant ESAD-UK 10 50186393 50186393 single base substitution C T missense_variant R1197W 3589C>T ESAD-UK 10 50186393 50186393 single base substitution C T missense_variant R3111W 9331C>T ESAD-UK 10 50186498 50186498 single base substitution T G downstream_gene_variant ESAD-UK 10 50186498 50186498 single base substitution T G intron_variant ESAD-UK 10 50187548 50187548 single base substitution A G downstream_gene_variant ESAD-UK 10 50187548 50187548 single base substitution A G intron_variant ESAD-UK 10 50187806 50187806 single base substitution G T downstream_gene_variant ESAD-UK 10 50187806 50187806 single base substitution G T intron_variant ESAD-UK 10 50188086 50188086 single base substitution T C downstream_gene_variant ESAD-UK 10 50188086 50188086 single base substitution T C intron_variant ESAD-UK 10 50190043 50190043 single base substitution T C intron_variant ESAD-UK 10 50190498 50190498 single base substitution C T intron_variant ESAD-UK 10 50190572 50190572 single base substitution G C 3_prime_UTR_variant ESAD-UK 10 50190572 50190572 single base substitution G C exon_variant ESAD-UK 10 50190572 50190572 single base substitution G C intron_variant ESAD-UK 10 50190572 50190572 single base substitution G C synonymous_variant L1255L 3765G>C ESAD-UK 10 50190572 50190572 single base substitution G C synonymous_variant L3169L 9507G>C ESAD-UK 10 50191432 50191432 single base substitution T G downstream_gene_variant ESAD-UK 10 50191567 50191567 single base substitution G T downstream_gene_variant ESAD-UK 10 50191568 50191568 single base substitution G T downstream_gene_variant ESAD-UK 10 50192096 50192096 single base substitution C A downstream_gene_variant ESAD-UK 10 50193874 50193874 single base substitution A C downstream_gene_variant ESAD-UK 10 50194610 50194610 single base substitution C T downstream_gene_variant ESAD-UK 10 50194994 50194994 single base substitution G T downstream_gene_variant ESAD-UK 10 50195384 50195384 single base substitution T G downstream_gene_variant ESAD-UK 10 50195419 50195419 single base substitution T G downstream_gene_variant ESAD-UK 10 50195745 50195745 single base substitution C T downstream_gene_variant ESAD-UK 10 50195922 50195922 single base substitution A T downstream_gene_variant ESAD-UK 10 50195984 50195984 single base substitution G A downstream_gene_variant ESCA-CN 10 49939347 49939347 single base substitution C T missense_variant P441L 1322C>T ESCA-CN 10 50014096 50014096 single base substitution A T intron_variant ESCA-CN 10 50014096 50014096 single base substitution A T missense_variant E111V 332A>T ESCA-CN 10 50014096 50014096 single base substitution A T missense_variant E1565V 4694A>T ESCA-CN 10 50015932 50015932 single base substitution C G missense_variant I135M 405C>G ESCA-CN 10 50015932 50015932 single base substitution C G missense_variant I1589M 4767C>G ESCA-CN 10 50015932 50015932 single base substitution C G missense_variant L1020V 3058C>G ESCA-CN 10 50028287 50028287 single base substitution G A 3_prime_UTR_variant ESCA-CN 10 50028287 50028287 single base substitution G A synonymous_variant G1838G 5514G>A ESCA-CN 10 50028287 50028287 single base substitution G A synonymous_variant G384G 1152G>A ESCA-CN 10 50028287 50028287 single base substitution G A upstream_gene_variant ESCA-CN 10 50098757 50098757 single base substitution G A 3_prime_UTR_variant ESCA-CN 10 50098757 50098757 single base substitution G A missense_variant R2434H 7301G>A ESCA-CN 10 50098757 50098757 single base substitution G A missense_variant R520H 1559G>A ESCA-CN 10 50121505 50121505 single base substitution C T intron_variant ESCA-CN 10 50121830 50121830 single base substitution C T intron_variant ESCA-CN 10 50186415 50186415 single base substitution C T 3_prime_UTR_variant ESCA-CN 10 50186415 50186415 single base substitution C T downstream_gene_variant ESCA-CN 10 50186415 50186415 single base substitution C T exon_variant ESCA-CN 10 50186415 50186415 single base substitution C T missense_variant P1204L 3611C>T ESCA-CN 10 50186415 50186415 single base substitution C T missense_variant P3118L 9353C>T ESCA-CN 10 50189445 50189445 single base substitution G C 3_prime_UTR_variant ESCA-CN 10 50189445 50189445 single base substitution G C downstream_gene_variant ESCA-CN 10 50189445 50189445 single base substitution G C exon_variant ESCA-CN 10 50189445 50189445 single base substitution G C missense_variant R1223P 3668G>C ESCA-CN 10 50189445 50189445 single base substitution G C missense_variant R3137P 9410G>C GBM-US 10 50121549 50121549 single base substitution G A intron_variant GBM-US 10 50121795 50121795 single base substitution C T intron_variant KIRC-US 10 49983817 49983817 single base substitution A T synonymous_variant S943S 2829A>T KIRC-US 10 49988080 49988080 single base substitution C T intron_variant KIRC-US 10 49988080 49988080 single base substitution C T synonymous_variant H1164H 3492C>T KIRC-US 10 50034823 50034823 single base substitution C T 3_prime_UTR_variant KIRC-US 10 50034823 50034823 single base substitution C T downstream_gene_variant KIRC-US 10 50034823 50034823 single base substitution C T synonymous_variant S116S 348C>T KIRC-US 10 50034823 50034823 single base substitution C T synonymous_variant S2030S 6090C>T KIRC-US 10 50085156 50085156 single base substitution C T 3_prime_UTR_variant KIRC-US 10 50085156 50085156 single base substitution C T missense_variant A2360V 7079C>T KIRC-US 10 50085156 50085156 single base substitution C T missense_variant A446V 1337C>T KIRC-US 10 50108353 50108353 single base substitution T A splice_donor_variant KIRC-US 10 50121787 50121787 single base substitution G A intron_variant KIRP-US 10 49983779 49983779 single base substitution C T missense_variant P931S 2791C>T KIRP-US 10 49986698 49986698 single base substitution C T intron_variant KIRP-US 10 49986698 49986698 single base substitution C T missense_variant S1073F 3218C>T KIRP-US 10 49998834 49998834 single base substitution A C intron_variant KIRP-US 10 49998834 49998834 single base substitution A C missense_variant I1377L 4129A>C LAML-KR 10 49953604 49953604 single base substitution C T intron_variant LAML-KR 10 49995855 49995855 single base substitution T C intron_variant LAML-KR 10 49995858 49995858 single base substitution T C intron_variant LAML-KR 10 49997877 49997877 single base substitution T C intron_variant LAML-KR 10 50093771 50093771 single base substitution C G intron_variant LAML-KR 10 50118404 50118404 single base substitution C T intron_variant LAML-KR 10 50121784 50121784 single base substitution T C intron_variant LAML-KR 10 50122181 50122181 single base substitution C A intron_variant LAML-KR 10 50151308 50151308 single base substitution T G intron_variant LAML-KR 10 50151308 50151308 single base substitution T G upstream_gene_variant LAML-KR 10 50161380 50161380 single base substitution A T intron_variant LAML-KR 10 50173819 50173819 single base substitution A G intron_variant LAML-KR 10 50173819 50173819 single base substitution A G upstream_gene_variant LAML-KR 10 50184949 50184949 single base substitution C T 3_prime_UTR_variant LAML-KR 10 50184949 50184949 single base substitution C T exon_variant LAML-KR 10 50184949 50184949 single base substitution C T synonymous_variant C1158C 3474C>T LAML-KR 10 50184949 50184949 single base substitution C T synonymous_variant C3072C 9216C>T LAML-KR 10 50184949 50184949 single base substitution C T upstream_gene_variant LGG-US 10 50122058 50122058 single base substitution C T intron_variant LICA-CN 10 49951327 49951327 single base substitution G A synonymous_variant L731L 2193G>A LICA-CN 10 49998931 49998931 single base substitution A T intron_variant LICA-CN 10 49998931 49998931 single base substitution A T missense_variant D1409V 4226A>T LICA-CN 10 50019688 50019688 single base substitution G A 3_prime_UTR_variant LICA-CN 10 50019688 50019688 single base substitution G A missense_variant V1717I 5149G>A LICA-CN 10 50019688 50019688 single base substitution G A missense_variant V263I 787G>A LICA-CN 10 50034874 50034874 single base substitution T A 3_prime_UTR_variant LICA-CN 10 50034874 50034874 single base substitution T A downstream_gene_variant LICA-CN 10 50034874 50034874 single base substitution T A missense_variant D133E 399T>A LICA-CN 10 50034874 50034874 single base substitution T A missense_variant D2047E 6141T>A LICA-CN 10 50081572 50081572 single base substitution T C 3_prime_UTR_variant LICA-CN 10 50081572 50081572 single base substitution T C missense_variant W2260R 6778T>C LICA-CN 10 50081572 50081572 single base substitution T C missense_variant W346R 1036T>C LICA-CN 10 50081573 50081573 single base substitution G T 3_prime_UTR_variant LICA-CN 10 50081573 50081573 single base substitution G T missense_variant W2260L 6779G>T LICA-CN 10 50081573 50081573 single base substitution G T missense_variant W346L 1037G>T LICA-CN 10 50081609 50081609 single base substitution G T 3_prime_UTR_variant LICA-CN 10 50081609 50081609 single base substitution G T missense_variant G2272V 6815G>T LICA-CN 10 50081609 50081609 single base substitution G T missense_variant G358V 1073G>T LICA-CN 10 50178174 50178174 single base substitution A T splice_acceptor_variant LICA-FR 10 49888136 49888136 single base substitution T A upstream_gene_variant LICA-FR 10 49893306 49893306 single base substitution G A intron_variant LICA-FR 10 49895713 49895713 single base substitution G A intron_variant LICA-FR 10 49909460 49909460 single base substitution T C intron_variant LICA-FR 10 49921440 49921440 single base substitution A G intron_variant LICA-FR 10 49949996 49949996 single base substitution A G intron_variant LICA-FR 10 49955946 49955946 single base substitution A G intron_variant LICA-FR 10 49973682 49973682 single base substitution T C intron_variant LICA-FR 10 49978703 49978703 single base substitution C G intron_variant LICA-FR 10 49985535 49985535 single base substitution G T intron_variant LICA-FR 10 49985535 49985535 single base substitution G T missense_variant G1057V 3170G>T LICA-FR 10 49997989 49997989 single base substitution G A intron_variant LICA-FR 10 49997989 49997989 single base substitution G A missense_variant G1342E 4025G>A LICA-FR 10 49998843 49998843 single base substitution G A intron_variant LICA-FR 10 49998843 49998843 single base substitution G A missense_variant G1380S 4138G>A LICA-FR 10 50002540 50002540 single base substitution A C intron_variant LICA-FR 10 50022127 50022127 single base substitution G A splice_region_variant LICA-FR 10 50025321 50025321 single base substitution C T 3_prime_UTR_variant LICA-FR 10 50025321 50025321 single base substitution C T missense_variant A1791V 5372C>T LICA-FR 10 50025321 50025321 single base substitution C T missense_variant A337V 1010C>T LICA-FR 10 50025321 50025321 single base substitution C T upstream_gene_variant LICA-FR 10 50025449 50025449 single base substitution C A 3_prime_UTR_variant LICA-FR 10 50025449 50025449 single base substitution C A missense_variant Q1834K 5500C>A LICA-FR 10 50025449 50025449 single base substitution C A missense_variant Q380K 1138C>A LICA-FR 10 50025449 50025449 single base substitution C A upstream_gene_variant LICA-FR 10 50064486 50064486 single base substitution C T intron_variant LICA-FR 10 50080529 50080529 single base substitution C T intron_variant LICA-FR 10 50085233 50085233 single base substitution G A 3_prime_UTR_variant LICA-FR 10 50085233 50085233 single base substitution G A missense_variant D2386N 7156G>A LICA-FR 10 50085233 50085233 single base substitution G A missense_variant D472N 1414G>A LICA-FR 10 50122088 50122088 single base substitution C A intron_variant LICA-FR 10 50129747 50129747 single base substitution A G intron_variant LICA-FR 10 50139142 50139153 deletion of <=200bp ACACACACACAC - intron_variant LICA-FR 10 50139386 50139386 single base substitution G C intron_variant LICA-FR 10 50145504 50145504 single base substitution G T intron_variant LICA-FR 10 50153456 50153456 single base substitution T C intron_variant LICA-FR 10 50153456 50153456 single base substitution T C upstream_gene_variant LICA-FR 10 50161755 50161755 single base substitution A G intron_variant LICA-FR 10 50162230 50162230 single base substitution C T intron_variant LICA-FR 10 50165327 50165327 single base substitution G A missense_variant G2711S 8131G>A LICA-FR 10 50165327 50165327 single base substitution G A missense_variant G797S 2389G>A LICA-FR 10 50165327 50165327 single base substitution G A splice_region_variant LICA-FR 10 50165577 50165577 single base substitution G A intron_variant LICA-FR 10 50172091 50172091 single base substitution C A 3_prime_UTR_variant LICA-FR 10 50172091 50172091 single base substitution C A exon_variant LICA-FR 10 50172091 50172091 single base substitution C A missense_variant P2810T 8428C>A LICA-FR 10 50172091 50172091 single base substitution C A missense_variant P896T 2686C>A LICA-FR 10 50172091 50172091 single base substitution C A upstream_gene_variant LICA-FR 10 50177149 50177149 single base substitution G A 3_prime_UTR_variant LICA-FR 10 50177149 50177149 single base substitution G A exon_variant LICA-FR 10 50177149 50177149 single base substitution G A synonymous_variant G2875G 8625G>A LICA-FR 10 50177149 50177149 single base substitution G A synonymous_variant G961G 2883G>A LICA-FR 10 50178265 50178265 single base substitution C A 3_prime_UTR_variant LICA-FR 10 50178265 50178265 single base substitution C A exon_variant LICA-FR 10 50178265 50178265 single base substitution C A synonymous_variant T1039T 3117C>A LICA-FR 10 50178265 50178265 single base substitution C A synonymous_variant T2953T 8859C>A LIHC-US 10 49917873 49917873 single base substitution A T synonymous_variant P32P 96A>T LIHC-US 10 49939422 49939422 single base substitution T C missense_variant I466T 1397T>C LIHC-US 10 49939462 49939462 single base substitution G T synonymous_variant G479G 1437G>T LIHC-US 10 49982649 49982649 single base substitution C T synonymous_variant P900P 2700C>T LIHC-US 10 49982657 49982657 single base substitution C A stop_gained S903* 2708C>A LIHC-US 10 49983837 49983837 single base substitution A G missense_variant N950S 2849A>G LIHC-US 10 50022037 50022037 single base substitution G A 3_prime_UTR_variant LIHC-US 10 50022037 50022037 single base substitution G A synonymous_variant Q1750Q 5250G>A LIHC-US 10 50022037 50022037 single base substitution G A synonymous_variant Q296Q 888G>A LIHC-US 10 50022050 50022050 single base substitution G A 3_prime_UTR_variant LIHC-US 10 50022050 50022050 single base substitution G A missense_variant E1755K 5263G>A LIHC-US 10 50022050 50022050 single base substitution G A missense_variant E301K 901G>A LIHC-US 10 50025347 50025347 single base substitution C T 3_prime_UTR_variant LIHC-US 10 50025347 50025347 single base substitution C T stop_gained Q1800* 5398C>T LIHC-US 10 50025347 50025347 single base substitution C T stop_gained Q346* 1036C>T LIHC-US 10 50025347 50025347 single base substitution C T upstream_gene_variant LIHC-US 10 50028385 50028385 single base substitution G A 3_prime_UTR_variant LIHC-US 10 50028385 50028385 single base substitution G A missense_variant R1871Q 5612G>A LIHC-US 10 50028385 50028385 single base substitution G A missense_variant R417Q 1250G>A LIHC-US 10 50028385 50028385 single base substitution G A upstream_gene_variant LIHC-US 10 50040632 50040632 single base substitution T C 3_prime_UTR_variant LIHC-US 10 50040632 50040632 single base substitution T C missense_variant S2181P 6541T>C LIHC-US 10 50040632 50040632 single base substitution T C missense_variant S267P 799T>C LIHC-US 10 50108278 50108278 single base substitution G T 3_prime_UTR_variant LIHC-US 10 50108278 50108278 single base substitution G T stop_gained E2484* 7450G>T LIHC-US 10 50108278 50108278 single base substitution G T stop_gained E570* 1708G>T LIHC-US 10 50121829 50121829 single base substitution G A intron_variant LIHC-US 10 50122143 50122143 single base substitution T C intron_variant LIHC-US 10 50151490 50151490 single base substitution C A 3_prime_UTR_variant LIHC-US 10 50151490 50151490 single base substitution C A stop_gained S2582* 7745C>A LIHC-US 10 50151490 50151490 single base substitution C A stop_gained S668* 2003C>A LIHC-US 10 50151490 50151490 single base substitution C A upstream_gene_variant LIHC-US 10 50154931 50154931 single base substitution T A 3_prime_UTR_variant LIHC-US 10 50154931 50154931 single base substitution T A exon_variant LIHC-US 10 50154931 50154931 single base substitution T A missense_variant Y2632N 7894T>A LIHC-US 10 50154931 50154931 single base substitution T A missense_variant Y718N 2152T>A LIHC-US 10 50174650 50174650 single base substitution T A 3_prime_UTR_variant LIHC-US 10 50174650 50174650 single base substitution T A exon_variant LIHC-US 10 50174650 50174650 single base substitution T A missense_variant L2839Q 8516T>A LIHC-US 10 50174650 50174650 single base substitution T A missense_variant L925Q 2774T>A LIHC-US 10 50174650 50174650 single base substitution T A upstream_gene_variant LINC-JP 10 49889105 49889105 single base substitution T A upstream_gene_variant LINC-JP 10 49897738 49897738 single base substitution G T intron_variant LINC-JP 10 49918005 49918005 single base substitution C G missense_variant F76L 228C>G LINC-JP 10 49932481 49932481 single base substitution T A intron_variant LINC-JP 10 49933673 49933673 single base substitution T C intron_variant LINC-JP 10 49935722 49935722 single base substitution G A intron_variant LINC-JP 10 49944180 49944180 single base substitution C A intron_variant LINC-JP 10 49944180 49944180 single base substitution C A missense_variant A648D 1943C>A LINC-JP 10 49944874 49944874 single base substitution G A downstream_gene_variant LINC-JP 10 49944874 49944874 single base substitution G A intron_variant LINC-JP 10 49950929 49950929 single base substitution G T intron_variant LINC-JP 10 49951111 49951111 single base substitution C G synonymous_variant G659G 1977C>G LINC-JP 10 49954349 49954349 single base substitution A C intron_variant LINC-JP 10 49955670 49955670 single base substitution A T intron_variant LINC-JP 10 49977135 49977135 single base substitution T C intron_variant LINC-JP 10 49982303 49982303 single base substitution G T intron_variant LINC-JP 10 49982304 49982304 single base substitution C T intron_variant LINC-JP 10 49983999 49983999 single base substitution C T intron_variant LINC-JP 10 50004688 50004688 single base substitution G A intron_variant LINC-JP 10 50010795 50010795 single base substitution G T intron_variant LINC-JP 10 50010795 50010795 single base substitution G T synonymous_variant V4V 12G>T LINC-JP 10 50013439 50013439 single base substitution G A intron_variant LINC-JP 10 50013439 50013439 single base substitution G A missense_variant G1540D 4619G>A LINC-JP 10 50013439 50013439 single base substitution G A missense_variant G86D 257G>A LINC-JP 10 50014192 50014192 single base substitution C T intron_variant LINC-JP 10 50018465 50018465 single base substitution C A intron_variant LINC-JP 10 50020742 50020742 single base substitution C T intron_variant LINC-JP 10 50022288 50022288 single base substitution A G intron_variant LINC-JP 10 50022804 50022804 single base substitution A G intron_variant LINC-JP 10 50023628 50023628 single base substitution C T intron_variant LINC-JP 10 50024459 50024459 single base substitution A G intron_variant LINC-JP 10 50024459 50024459 single base substitution A G upstream_gene_variant LINC-JP 10 50028313 50028313 single base substitution G T 3_prime_UTR_variant LINC-JP 10 50028313 50028313 single base substitution G T missense_variant S1847I 5540G>T LINC-JP 10 50028313 50028313 single base substitution G T missense_variant S393I 1178G>T LINC-JP 10 50028313 50028313 single base substitution G T upstream_gene_variant LINC-JP 10 50030586 50030586 single base substitution A G splice_region_variant LINC-JP 10 50030634 50030634 single base substitution C G intron_variant LINC-JP 10 50030680 50030680 single base substitution G T intron_variant LINC-JP 10 50031399 50031399 single base substitution A G 3_prime_UTR_variant LINC-JP 10 50031399 50031399 single base substitution A G intron_variant LINC-JP 10 50036792 50036792 single base substitution G T downstream_gene_variant LINC-JP 10 50036792 50036792 single base substitution G T intron_variant LINC-JP 10 50036793 50036793 single base substitution G A downstream_gene_variant LINC-JP 10 50036793 50036793 single base substitution G A intron_variant LINC-JP 10 50036972 50036972 single base substitution C G downstream_gene_variant LINC-JP 10 50036972 50036972 single base substitution C G intron_variant LINC-JP 10 50041661 50041661 single base substitution T C intron_variant LINC-JP 10 50043157 50043157 single base substitution G A intron_variant LINC-JP 10 50056055 50056055 single base substitution G T intron_variant LINC-JP 10 50064823 50064823 single base substitution T C intron_variant LINC-JP 10 50066086 50066086 single base substitution G A intron_variant LINC-JP 10 50067698 50067698 single base substitution A G intron_variant LINC-JP 10 50080788 50080788 single base substitution G A intron_variant LINC-JP 10 50083030 50083030 single base substitution G A intron_variant LINC-JP 10 50085432 50085432 single base substitution C T intron_variant LINC-JP 10 50092797 50092797 single base substitution C A intron_variant LINC-JP 10 50099418 50099418 single base substitution T C intron_variant LINC-JP 10 50102025 50102025 single base substitution C T intron_variant LINC-JP 10 50102084 50102084 single base substitution G T intron_variant LINC-JP 10 50105350 50105350 single base substitution G C intron_variant LINC-JP 10 50109716 50109716 single base substitution C A intron_variant LINC-JP 10 50110365 50110365 single base substitution C A intron_variant LINC-JP 10 50112915 50112915 single base substitution G T intron_variant LINC-JP 10 50121700 50121700 single base substitution G A intron_variant LINC-JP 10 50122059 50122059 single base substitution G T intron_variant LINC-JP 10 50124893 50124893 single base substitution G A intron_variant LINC-JP 10 50143959 50143959 single base substitution C T intron_variant LINC-JP 10 50149452 50149452 single base substitution C A intron_variant LINC-JP 10 50149452 50149452 single base substitution C A upstream_gene_variant LINC-JP 10 50151244 50151244 single base substitution T C intron_variant LINC-JP 10 50151244 50151244 single base substitution T C upstream_gene_variant LINC-JP 10 50154660 50154660 single base substitution G A intron_variant LINC-JP 10 50162054 50162054 single base substitution A T intron_variant LINC-JP 10 50167757 50167757 single base substitution T C intron_variant LINC-JP 10 50181443 50181443 single base substitution T C intron_variant LINC-JP 10 50181443 50181443 single base substitution T C upstream_gene_variant LINC-JP 10 50185041 50185041 single base substitution C T downstream_gene_variant LINC-JP 10 50185041 50185041 single base substitution C T intron_variant LINC-JP 10 50185041 50185041 single base substitution C T upstream_gene_variant LINC-JP 10 50185722 50185722 single base substitution C A downstream_gene_variant LINC-JP 10 50185722 50185722 single base substitution C A intron_variant LINC-JP 10 50185722 50185722 single base substitution C A upstream_gene_variant LINC-JP 10 50186502 50186502 single base substitution T A downstream_gene_variant LINC-JP 10 50186502 50186502 single base substitution T A intron_variant LINC-JP 10 50189352 50189352 single base substitution C A downstream_gene_variant LINC-JP 10 50189352 50189352 single base substitution C A intron_variant LIRI-JP 10 49888080 49888080 single base substitution A G upstream_gene_variant LIRI-JP 10 49888502 49888502 single base substitution T A upstream_gene_variant LIRI-JP 10 49888807 49888807 single base substitution G T upstream_gene_variant LIRI-JP 10 49890046 49890046 single base substitution A G upstream_gene_variant LIRI-JP 10 49893249 49893249 single base substitution G A intron_variant LIRI-JP 10 49895029 49895029 single base substitution G T intron_variant LIRI-JP 10 49896664 49896667 deletion of <=200bp GCAA - intron_variant LIRI-JP 10 49897185 49897185 single base substitution T A intron_variant LIRI-JP 10 49897446 49897446 single base substitution G T intron_variant LIRI-JP 10 49901695 49901695 single base substitution G A intron_variant LIRI-JP 10 49904000 49904000 single base substitution C T intron_variant LIRI-JP 10 49907471 49907471 single base substitution C T intron_variant LIRI-JP 10 49908864 49908864 single base substitution C T intron_variant LIRI-JP 10 49909502 49909502 single base substitution T C intron_variant LIRI-JP 10 49910417 49910417 single base substitution C T intron_variant LIRI-JP 10 49910820 49910820 single base substitution G T intron_variant LIRI-JP 10 49911060 49911060 single base substitution T C intron_variant LIRI-JP 10 49911062 49911062 single base substitution G C intron_variant LIRI-JP 10 49913338 49913338 single base substitution T C intron_variant LIRI-JP 10 49913338 49913338 single base substitution T C upstream_gene_variant LIRI-JP 10 49914168 49914168 single base substitution A G intron_variant LIRI-JP 10 49914168 49914168 single base substitution A G upstream_gene_variant LIRI-JP 10 49914218 49914218 single base substitution G A intron_variant LIRI-JP 10 49914218 49914218 single base substitution G A upstream_gene_variant LIRI-JP 10 49914307 49914307 single base substitution T A intron_variant LIRI-JP 10 49914307 49914307 single base substitution T A upstream_gene_variant LIRI-JP 10 49914951 49914951 single base substitution G C intron_variant LIRI-JP 10 49914951 49914951 single base substitution G C upstream_gene_variant LIRI-JP 10 49916404 49916404 single base substitution A G intron_variant LIRI-JP 10 49916404 49916404 single base substitution A G upstream_gene_variant LIRI-JP 10 49918370 49918370 single base substitution C T intron_variant LIRI-JP 10 49918630 49918630 single base substitution C A intron_variant LIRI-JP 10 49919168 49919168 single base substitution C G intron_variant LIRI-JP 10 49919420 49919420 single base substitution C A intron_variant LIRI-JP 10 49921589 49921589 single base substitution C T intron_variant LIRI-JP 10 49922291 49922291 single base substitution A G intron_variant LIRI-JP 10 49922412 49922412 single base substitution G T intron_variant LIRI-JP 10 49922422 49922422 single base substitution T A intron_variant LIRI-JP 10 49923050 49923050 single base substitution C A intron_variant LIRI-JP 10 49923780 49923780 single base substitution C A intron_variant LIRI-JP 10 49924689 49924689 single base substitution T C intron_variant LIRI-JP 10 49924954 49924954 single base substitution A G intron_variant LIRI-JP 10 49928390 49928390 single base substitution C A intron_variant LIRI-JP 10 49930131 49930131 single base substitution T A intron_variant LIRI-JP 10 49930834 49930834 single base substitution A G intron_variant LIRI-JP 10 49931690 49931690 single base substitution T C intron_variant LIRI-JP 10 49931762 49931762 single base substitution C A intron_variant LIRI-JP 10 49932103 49932103 single base substitution C A intron_variant LIRI-JP 10 49933545 49933545 single base substitution G C intron_variant LIRI-JP 10 49933692 49933692 single base substitution T C intron_variant LIRI-JP 10 49935440 49935440 single base substitution G A intron_variant LIRI-JP 10 49935508 49935508 single base substitution C T splice_region_variant LIRI-JP 10 49935650 49935650 single base substitution T C missense_variant F306S 917T>C LIRI-JP 10 49935742 49935742 single base substitution C A intron_variant LIRI-JP 10 49936354 49936354 single base substitution C T intron_variant LIRI-JP 10 49937105 49937105 single base substitution C T intron_variant LIRI-JP 10 49940766 49940766 single base substitution C T intron_variant LIRI-JP 10 49941474 49941474 single base substitution C T intron_variant LIRI-JP 10 49942139 49942139 single base substitution G T intron_variant LIRI-JP 10 49942156 49942156 single base substitution T C intron_variant LIRI-JP 10 49942171 49942171 single base substitution A G intron_variant LIRI-JP 10 49942498 49942498 single base substitution T C intron_variant LIRI-JP 10 49942561 49942561 single base substitution A T intron_variant LIRI-JP 10 49942820 49942820 single base substitution T C intron_variant LIRI-JP 10 49943809 49943809 single base substitution A G intron_variant LIRI-JP 10 49943984 49943984 single base substitution T G missense_variant Y583D 1747T>G LIRI-JP 10 49944400 49944400 single base substitution A T downstream_gene_variant LIRI-JP 10 49944400 49944400 single base substitution A T intron_variant LIRI-JP 10 49944425 49944425 single base substitution C T downstream_gene_variant LIRI-JP 10 49944425 49944425 single base substitution C T intron_variant LIRI-JP 10 49944534 49944534 single base substitution C A downstream_gene_variant LIRI-JP 10 49944534 49944534 single base substitution C A intron_variant LIRI-JP 10 49944924 49944924 single base substitution G T downstream_gene_variant LIRI-JP 10 49944924 49944924 single base substitution G T intron_variant LIRI-JP 10 49945115 49945115 single base substitution T A downstream_gene_variant LIRI-JP 10 49945115 49945115 single base substitution T A intron_variant LIRI-JP 10 49946444 49946444 single base substitution A G downstream_gene_variant LIRI-JP 10 49946444 49946444 single base substitution A G intron_variant LIRI-JP 10 49946781 49946781 single base substitution A C downstream_gene_variant LIRI-JP 10 49946781 49946781 single base substitution A C intron_variant LIRI-JP 10 49947157 49947157 single base substitution A G downstream_gene_variant LIRI-JP 10 49947157 49947157 single base substitution A G intron_variant LIRI-JP 10 49947203 49947203 single base substitution C T downstream_gene_variant LIRI-JP 10 49947203 49947203 single base substitution C T intron_variant LIRI-JP 10 49947964 49947964 single base substitution T C downstream_gene_variant LIRI-JP 10 49947964 49947964 single base substitution T C intron_variant LIRI-JP 10 49948540 49948540 single base substitution A G downstream_gene_variant LIRI-JP 10 49948540 49948540 single base substitution A G intron_variant LIRI-JP 10 49949014 49949014 single base substitution A G downstream_gene_variant LIRI-JP 10 49949014 49949014 single base substitution A G intron_variant LIRI-JP 10 49950748 49950748 single base substitution G T intron_variant LIRI-JP 10 49951927 49951927 single base substitution G A intron_variant LIRI-JP 10 49952582 49952582 single base substitution C A intron_variant LIRI-JP 10 49952720 49952720 single base substitution C A intron_variant LIRI-JP 10 49952770 49952770 single base substitution G C intron_variant LIRI-JP 10 49953223 49953223 single base substitution A G intron_variant LIRI-JP 10 49953612 49953612 single base substitution T C intron_variant LIRI-JP 10 49958965 49958965 single base substitution T C intron_variant LIRI-JP 10 49959279 49959279 single base substitution A G intron_variant LIRI-JP 10 49959823 49959823 single base substitution C A intron_variant LIRI-JP 10 49960626 49960626 single base substitution T A intron_variant LIRI-JP 10 49961596 49961596 single base substitution G A intron_variant LIRI-JP 10 49962505 49962505 single base substitution T C intron_variant LIRI-JP 10 49962915 49962915 single base substitution A G intron_variant LIRI-JP 10 49963058 49963058 single base substitution C T intron_variant LIRI-JP 10 49963453 49963453 single base substitution G T intron_variant LIRI-JP 10 49965979 49965979 single base substitution A C intron_variant LIRI-JP 10 49966151 49966151 single base substitution A G intron_variant LIRI-JP 10 49967877 49967877 single base substitution T C intron_variant LIRI-JP 10 49967928 49967928 single base substitution C A intron_variant LIRI-JP 10 49969243 49969243 single base substitution G A intron_variant LIRI-JP 10 49970975 49970975 single base substitution G C intron_variant LIRI-JP 10 49971134 49971134 single base substitution C T intron_variant LIRI-JP 10 49972498 49972498 single base substitution T C intron_variant LIRI-JP 10 49972609 49972609 single base substitution T A intron_variant LIRI-JP 10 49974437 49974437 single base substitution A G intron_variant LIRI-JP 10 49975130 49975130 single base substitution C A intron_variant LIRI-JP 10 49976290 49976290 single base substitution G T intron_variant LIRI-JP 10 49976623 49976623 single base substitution C T intron_variant LIRI-JP 10 49978031 49978031 single base substitution C T intron_variant LIRI-JP 10 49978520 49978520 single base substitution G A intron_variant LIRI-JP 10 49978729 49978729 single base substitution G T intron_variant LIRI-JP 10 49980200 49980200 single base substitution G T intron_variant LIRI-JP 10 49982147 49982147 single base substitution A G intron_variant LIRI-JP 10 49983750 49983750 single base substitution T A splice_region_variant LIRI-JP 10 49984303 49984303 single base substitution C A intron_variant LIRI-JP 10 49984856 49984856 single base substitution G A synonymous_variant L975L 2925G>A LIRI-JP 10 49985171 49985171 single base substitution G A intron_variant LIRI-JP 10 49986663 49986663 single base substitution C T intron_variant LIRI-JP 10 49986663 49986663 single base substitution C T synonymous_variant T1061T 3183C>T LIRI-JP 10 49987901 49987901 single base substitution G C intron_variant LIRI-JP 10 49988273 49988273 single base substitution T C intron_variant LIRI-JP 10 49988601 49988601 single base substitution T A intron_variant LIRI-JP 10 49989365 49989365 single base substitution G A intron_variant LIRI-JP 10 49991670 49991670 single base substitution C T intron_variant LIRI-JP 10 49994102 49994102 single base substitution A T intron_variant LIRI-JP 10 49995597 49995597 single base substitution T C intron_variant LIRI-JP 10 49997143 49997143 single base substitution C T intron_variant LIRI-JP 10 49997497 49997497 single base substitution C T intron_variant LIRI-JP 10 49997719 49997719 single base substitution A G intron_variant LIRI-JP 10 49997882 49997882 single base substitution G A intron_variant LIRI-JP 10 49998005 49998005 single base substitution T A intron_variant LIRI-JP 10 49998005 49998005 single base substitution T A synonymous_variant I1347I 4041T>A LIRI-JP 10 49998246 49998246 single base substitution A G intron_variant LIRI-JP 10 50000320 50000320 single base substitution C A intron_variant LIRI-JP 10 50000699 50000699 single base substitution T G intron_variant LIRI-JP 10 50001007 50001007 single base substitution T C intron_variant LIRI-JP 10 50001555 50001555 single base substitution G T intron_variant LIRI-JP 10 50004035 50004035 single base substitution G T intron_variant LIRI-JP 10 50005048 50005048 single base substitution A G intron_variant LIRI-JP 10 50005979 50005979 single base substitution G A intron_variant LIRI-JP 10 50005979 50005979 single base substitution G A upstream_gene_variant LIRI-JP 10 50006262 50006262 single base substitution A G intron_variant LIRI-JP 10 50006262 50006262 single base substitution A G upstream_gene_variant LIRI-JP 10 50006666 50006666 single base substitution A G intron_variant LIRI-JP 10 50006666 50006666 single base substitution A G upstream_gene_variant LIRI-JP 10 50006856 50006856 single base substitution T C intron_variant LIRI-JP 10 50006856 50006856 single base substitution T C upstream_gene_variant LIRI-JP 10 50007648 50007648 single base substitution T C intron_variant LIRI-JP 10 50007648 50007648 single base substitution T C upstream_gene_variant LIRI-JP 10 50008399 50008399 single base substitution G A intron_variant LIRI-JP 10 50008399 50008399 single base substitution G A upstream_gene_variant LIRI-JP 10 50009420 50009420 single base substitution G T intron_variant LIRI-JP 10 50009420 50009420 single base substitution G T upstream_gene_variant LIRI-JP 10 50009702 50009702 single base substitution C T intron_variant LIRI-JP 10 50009702 50009702 single base substitution C T upstream_gene_variant LIRI-JP 10 50009840 50009840 single base substitution T C intron_variant LIRI-JP 10 50009840 50009840 single base substitution T C upstream_gene_variant LIRI-JP 10 50010599 50010599 single base substitution A C intron_variant LIRI-JP 10 50010599 50010599 single base substitution A C upstream_gene_variant LIRI-JP 10 50011076 50011076 single base substitution A G intron_variant LIRI-JP 10 50012481 50012481 single base substitution T A intron_variant LIRI-JP 10 50012544 50012544 single base substitution C T intron_variant LIRI-JP 10 50015528 50015528 single base substitution T C intron_variant LIRI-JP 10 50015544 50015544 single base substitution G A intron_variant LIRI-JP 10 50016249 50016249 single base substitution T C intron_variant LIRI-JP 10 50018090 50018090 single base substitution T G intron_variant LIRI-JP 10 50018168 50018168 single base substitution T A intron_variant LIRI-JP 10 50018197 50018197 single base substitution T C intron_variant LIRI-JP 10 50018456 50018456 single base substitution T C intron_variant LIRI-JP 10 50019567 50019567 single base substitution C T intron_variant LIRI-JP 10 50019820 50019820 single base substitution C T intron_variant LIRI-JP 10 50019979 50019979 single base substitution G C intron_variant LIRI-JP 10 50020310 50020310 single base substitution C A intron_variant LIRI-JP 10 50020351 50020351 single base substitution C T intron_variant LIRI-JP 10 50020597 50020597 single base substitution A T intron_variant LIRI-JP 10 50021396 50021396 single base substitution C T intron_variant LIRI-JP 10 50021874 50021874 single base substitution C A intron_variant LIRI-JP 10 50022098 50022098 single base substitution C A 3_prime_UTR_variant LIRI-JP 10 50022098 50022098 single base substitution C A missense_variant L1771M 5311C>A LIRI-JP 10 50022098 50022098 single base substitution C A missense_variant L317M 949C>A LIRI-JP 10 50023885 50023885 single base substitution A G intron_variant LIRI-JP 10 50025973 50025973 single base substitution T A intron_variant LIRI-JP 10 50025973 50025973 single base substitution T A upstream_gene_variant LIRI-JP 10 50026780 50026780 single base substitution A T intron_variant LIRI-JP 10 50026780 50026780 single base substitution A T upstream_gene_variant LIRI-JP 10 50027181 50027181 single base substitution G T intron_variant LIRI-JP 10 50027181 50027181 single base substitution G T upstream_gene_variant LIRI-JP 10 50027467 50027467 single base substitution C T intron_variant LIRI-JP 10 50027467 50027467 single base substitution C T upstream_gene_variant LIRI-JP 10 50028944 50028944 single base substitution G A intron_variant LIRI-JP 10 50028944 50028944 single base substitution G A upstream_gene_variant LIRI-JP 10 50029393 50029393 single base substitution A C intron_variant LIRI-JP 10 50029484 50029484 single base substitution C T intron_variant LIRI-JP 10 50029949 50029949 single base substitution A G intron_variant LIRI-JP 10 50031765 50031765 single base substitution C T 3_prime_UTR_variant LIRI-JP 10 50031765 50031765 single base substitution C T intron_variant LIRI-JP 10 50032782 50032782 single base substitution T G downstream_gene_variant LIRI-JP 10 50032782 50032782 single base substitution T G intron_variant LIRI-JP 10 50033139 50033139 single base substitution C T downstream_gene_variant LIRI-JP 10 50033139 50033139 single base substitution C T intron_variant LIRI-JP 10 50033826 50033826 single base substitution C T downstream_gene_variant LIRI-JP 10 50033826 50033826 single base substitution C T intron_variant LIRI-JP 10 50035032 50035032 single base substitution G A downstream_gene_variant LIRI-JP 10 50035032 50035032 single base substitution G A intron_variant LIRI-JP 10 50035052 50035052 single base substitution G T downstream_gene_variant LIRI-JP 10 50035052 50035052 single base substitution G T intron_variant LIRI-JP 10 50036320 50036320 single base substitution A G downstream_gene_variant LIRI-JP 10 50036320 50036320 single base substitution A G intron_variant LIRI-JP 10 50036430 50036430 single base substitution G A downstream_gene_variant LIRI-JP 10 50036430 50036430 single base substitution G A intron_variant LIRI-JP 10 50039009 50039009 single base substitution C T intron_variant LIRI-JP 10 50040067 50040067 single base substitution G T intron_variant LIRI-JP 10 50041108 50041108 single base substitution G A intron_variant LIRI-JP 10 50041445 50041445 single base substitution G A intron_variant LIRI-JP 10 50042781 50042781 single base substitution C T intron_variant LIRI-JP 10 50042887 50042887 single base substitution C T intron_variant LIRI-JP 10 50043848 50043848 single base substitution T G intron_variant LIRI-JP 10 50043960 50043960 single base substitution T C intron_variant LIRI-JP 10 50044225 50044225 single base substitution T C intron_variant LIRI-JP 10 50044434 50044434 single base substitution G A intron_variant LIRI-JP 10 50044657 50044657 single base substitution A C intron_variant LIRI-JP 10 50045642 50045642 single base substitution G T intron_variant LIRI-JP 10 50045726 50045726 single base substitution G T intron_variant LIRI-JP 10 50050404 50050404 single base substitution G A intron_variant LIRI-JP 10 50050761 50050761 single base substitution T C intron_variant LIRI-JP 10 50050810 50050810 single base substitution T C intron_variant LIRI-JP 10 50051522 50051522 single base substitution A C intron_variant LIRI-JP 10 50052714 50052714 single base substitution C A intron_variant LIRI-JP 10 50053426 50053426 single base substitution G T intron_variant LIRI-JP 10 50053488 50053488 single base substitution T C intron_variant LIRI-JP 10 50054915 50054915 single base substitution C T intron_variant LIRI-JP 10 50056122 50056122 single base substitution G C intron_variant LIRI-JP 10 50057051 50057051 single base substitution C G intron_variant LIRI-JP 10 50059756 50059756 single base substitution G T intron_variant LIRI-JP 10 50060000 50060000 single base substitution G T intron_variant LIRI-JP 10 50061999 50061999 single base substitution T G intron_variant LIRI-JP 10 50062088 50062088 single base substitution A G intron_variant LIRI-JP 10 50063727 50063727 single base substitution A G intron_variant LIRI-JP 10 50064313 50064313 single base substitution G T intron_variant LIRI-JP 10 50065979 50065979 single base substitution G T intron_variant LIRI-JP 10 50065980 50065980 single base substitution G T intron_variant LIRI-JP 10 50066218 50066218 single base substitution C A intron_variant LIRI-JP 10 50069375 50069375 single base substitution A G intron_variant LIRI-JP 10 50073372 50073372 single base substitution T C intron_variant LIRI-JP 10 50075491 50075491 single base substitution C T intron_variant LIRI-JP 10 50076244 50076244 single base substitution C A intron_variant LIRI-JP 10 50077508 50077508 single base substitution C A intron_variant LIRI-JP 10 50078303 50078303 single base substitution C A intron_variant LIRI-JP 10 50078875 50078875 single base substitution A G intron_variant LIRI-JP 10 50079652 50079652 single base substitution C T intron_variant LIRI-JP 10 50080262 50080262 single base substitution C T intron_variant LIRI-JP 10 50081286 50081286 single base substitution G A intron_variant LIRI-JP 10 50082237 50082237 single base substitution A G intron_variant LIRI-JP 10 50082361 50082361 insertion of <=200bp - T intron_variant LIRI-JP 10 50083773 50083773 single base substitution T C intron_variant LIRI-JP 10 50083782 50083782 single base substitution T A intron_variant LIRI-JP 10 50086360 50086360 single base substitution G T intron_variant LIRI-JP 10 50086705 50086705 single base substitution A G intron_variant LIRI-JP 10 50087359 50087359 single base substitution C T intron_variant LIRI-JP 10 50087495 50087495 single base substitution G T intron_variant LIRI-JP 10 50088034 50088034 single base substitution C A intron_variant LIRI-JP 10 50088621 50088621 single base substitution C T intron_variant LIRI-JP 10 50090182 50090182 single base substitution G T intron_variant LIRI-JP 10 50090614 50090614 single base substitution G A intron_variant LIRI-JP 10 50090696 50090696 single base substitution G A intron_variant LIRI-JP 10 50091557 50091557 single base substitution T C intron_variant LIRI-JP 10 50093262 50093262 single base substitution A T intron_variant LIRI-JP 10 50095906 50095906 single base substitution C T intron_variant LIRI-JP 10 50097638 50097638 single base substitution G A intron_variant LIRI-JP 10 50097752 50097752 single base substitution C A intron_variant LIRI-JP 10 50101683 50101683 single base substitution A G intron_variant LIRI-JP 10 50105576 50105576 single base substitution A G 3_prime_UTR_variant LIRI-JP 10 50105576 50105576 single base substitution A G missense_variant Y2465C 7394A>G LIRI-JP 10 50105576 50105576 single base substitution A G missense_variant Y551C 1652A>G LIRI-JP 10 50106036 50106036 single base substitution T C intron_variant LIRI-JP 10 50106123 50106123 single base substitution C A intron_variant LIRI-JP 10 50106124 50106124 single base substitution C A intron_variant LIRI-JP 10 50107801 50107801 single base substitution G A intron_variant LIRI-JP 10 50110185 50110185 single base substitution G A intron_variant LIRI-JP 10 50111301 50111301 single base substitution T A intron_variant LIRI-JP 10 50111329 50111329 single base substitution T C intron_variant LIRI-JP 10 50114230 50114230 single base substitution G T intron_variant LIRI-JP 10 50116262 50116262 single base substitution C A intron_variant LIRI-JP 10 50119323 50119323 single base substitution T A intron_variant LIRI-JP 10 50120015 50120015 deletion of <=200bp G - intron_variant LIRI-JP 10 50120074 50120089 deletion of <=200bp TTGCCAACAACATAGG - intron_variant LIRI-JP 10 50121062 50121062 single base substitution G T intron_variant LIRI-JP 10 50121389 50121389 single base substitution C A intron_variant LIRI-JP 10 50121552 50121552 single base substitution C T intron_variant LIRI-JP 10 50122776 50122776 single base substitution G A intron_variant LIRI-JP 10 50123155 50123155 single base substitution T C intron_variant LIRI-JP 10 50124098 50124098 single base substitution G A intron_variant LIRI-JP 10 50125060 50125060 single base substitution T C intron_variant LIRI-JP 10 50125340 50125340 single base substitution C G intron_variant LIRI-JP 10 50126030 50126030 single base substitution G A intron_variant LIRI-JP 10 50126743 50126743 single base substitution C T intron_variant LIRI-JP 10 50128216 50128216 single base substitution T C intron_variant LIRI-JP 10 50130887 50130887 single base substitution C A intron_variant LIRI-JP 10 50131194 50131194 single base substitution T A intron_variant LIRI-JP 10 50132432 50132432 single base substitution A C intron_variant LIRI-JP 10 50132502 50132502 single base substitution G A intron_variant LIRI-JP 10 50137108 50137108 single base substitution C T intron_variant LIRI-JP 10 50137778 50137778 single base substitution T C intron_variant LIRI-JP 10 50137850 50137850 single base substitution C T intron_variant LIRI-JP 10 50138891 50138891 single base substitution T C intron_variant LIRI-JP 10 50141671 50141671 single base substitution A G intron_variant LIRI-JP 10 50142405 50142405 single base substitution C A intron_variant LIRI-JP 10 50143526 50143526 single base substitution C T intron_variant LIRI-JP 10 50143858 50143858 single base substitution G T intron_variant LIRI-JP 10 50144433 50144433 single base substitution A G intron_variant LIRI-JP 10 50145511 50145511 single base substitution G A intron_variant LIRI-JP 10 50146206 50146206 single base substitution A G intron_variant LIRI-JP 10 50146210 50146210 single base substitution T C intron_variant LIRI-JP 10 50146568 50146568 single base substitution T C intron_variant LIRI-JP 10 50146739 50146739 single base substitution C T intron_variant LIRI-JP 10 50147384 50147384 single base substitution A G intron_variant LIRI-JP 10 50147840 50147840 single base substitution G A intron_variant LIRI-JP 10 50148894 50148894 single base substitution T C intron_variant LIRI-JP 10 50148938 50148938 single base substitution A G intron_variant LIRI-JP 10 50149410 50149410 single base substitution T A intron_variant LIRI-JP 10 50149410 50149410 single base substitution T A upstream_gene_variant LIRI-JP 10 50150446 50150446 single base substitution C T intron_variant LIRI-JP 10 50150446 50150446 single base substitution C T upstream_gene_variant LIRI-JP 10 50150930 50150930 single base substitution A G intron_variant LIRI-JP 10 50150930 50150930 single base substitution A G upstream_gene_variant LIRI-JP 10 50154919 50154919 single base substitution C A 3_prime_UTR_variant LIRI-JP 10 50154919 50154919 single base substitution C A exon_variant LIRI-JP 10 50154919 50154919 single base substitution C A missense_variant Q2628K 7882C>A LIRI-JP 10 50154919 50154919 single base substitution C A missense_variant Q714K 2140C>A LIRI-JP 10 50156436 50156436 single base substitution A G intron_variant LIRI-JP 10 50158880 50158880 single base substitution G A intron_variant LIRI-JP 10 50161197 50161197 single base substitution T C intron_variant LIRI-JP 10 50161506 50161506 single base substitution G A intron_variant LIRI-JP 10 50161868 50161868 single base substitution A C intron_variant LIRI-JP 10 50167142 50167142 single base substitution A G intron_variant LIRI-JP 10 50167920 50167920 single base substitution C T intron_variant LIRI-JP 10 50169622 50169622 single base substitution T A intron_variant LIRI-JP 10 50170334 50170339 deletion of <=200bp CTCCAA - intron_variant LIRI-JP 10 50170964 50170964 single base substitution G A intron_variant LIRI-JP 10 50171426 50171426 single base substitution G A intron_variant LIRI-JP 10 50172942 50172942 single base substitution C T intron_variant LIRI-JP 10 50172942 50172942 single base substitution C T upstream_gene_variant LIRI-JP 10 50174378 50174378 single base substitution C T intron_variant LIRI-JP 10 50174378 50174378 single base substitution C T upstream_gene_variant LIRI-JP 10 50174973 50174973 single base substitution C T exon_variant LIRI-JP 10 50174973 50174973 single base substitution C T intron_variant LIRI-JP 10 50174973 50174973 single base substitution C T upstream_gene_variant LIRI-JP 10 50175288 50175288 single base substitution C T exon_variant LIRI-JP 10 50175288 50175288 single base substitution C T intron_variant LIRI-JP 10 50175288 50175288 single base substitution C T upstream_gene_variant LIRI-JP 10 50175353 50175353 single base substitution G A exon_variant LIRI-JP 10 50175353 50175353 single base substitution G A intron_variant LIRI-JP 10 50175353 50175353 single base substitution G A upstream_gene_variant LIRI-JP 10 50176608 50176608 single base substitution G A exon_variant LIRI-JP 10 50176608 50176608 single base substitution G A intron_variant LIRI-JP 10 50176608 50176608 single base substitution G A upstream_gene_variant LIRI-JP 10 50178223 50178223 single base substitution C T 3_prime_UTR_variant LIRI-JP 10 50178223 50178223 single base substitution C T exon_variant LIRI-JP 10 50178223 50178223 single base substitution C T synonymous_variant C1025C 3075C>T LIRI-JP 10 50178223 50178223 single base substitution C T synonymous_variant C2939C 8817C>T LIRI-JP 10 50178423 50178423 single base substitution A G intron_variant LIRI-JP 10 50178629 50178629 single base substitution C T intron_variant LIRI-JP 10 50179395 50179395 single base substitution G A intron_variant LIRI-JP 10 50179866 50179866 single base substitution C A intron_variant LIRI-JP 10 50180521 50180521 single base substitution T C intron_variant LIRI-JP 10 50183126 50183126 single base substitution G T intron_variant LIRI-JP 10 50183126 50183126 single base substitution G T upstream_gene_variant LIRI-JP 10 50183447 50183447 single base substitution C A intron_variant LIRI-JP 10 50183447 50183447 single base substitution C A upstream_gene_variant LIRI-JP 10 50184221 50184221 single base substitution A G intron_variant LIRI-JP 10 50184221 50184221 single base substitution A G upstream_gene_variant LIRI-JP 10 50192849 50192849 single base substitution C A downstream_gene_variant LUSC-KR 10 49888257 49888257 single base substitution T A upstream_gene_variant LUSC-KR 10 49888914 49888914 single base substitution A T upstream_gene_variant LUSC-KR 10 49891686 49891686 single base substitution T A upstream_gene_variant LUSC-KR 10 49892959 49892959 single base substitution C A 5_prime_UTR_variant LUSC-KR 10 49892960 49892960 single base substitution C A 5_prime_UTR_variant LUSC-KR 10 49893314 49893314 single base substitution G T intron_variant LUSC-KR 10 49894446 49894446 single base substitution G T intron_variant LUSC-KR 10 49898652 49898652 single base substitution G C intron_variant LUSC-KR 10 49903113 49903113 single base substitution G C intron_variant LUSC-KR 10 49905587 49905587 single base substitution G A intron_variant LUSC-KR 10 49907963 49907963 single base substitution C T intron_variant LUSC-KR 10 49908543 49908543 single base substitution G A intron_variant LUSC-KR 10 49913159 49913159 single base substitution A G intron_variant LUSC-KR 10 49913159 49913159 single base substitution A G upstream_gene_variant LUSC-KR 10 49913262 49913262 single base substitution G T intron_variant LUSC-KR 10 49913262 49913262 single base substitution G T upstream_gene_variant LUSC-KR 10 49913559 49913559 single base substitution T C intron_variant LUSC-KR 10 49913559 49913559 single base substitution T C upstream_gene_variant LUSC-KR 10 49914380 49914380 single base substitution A T intron_variant LUSC-KR 10 49914380 49914380 single base substitution A T upstream_gene_variant LUSC-KR 10 49914624 49914624 single base substitution G T intron_variant LUSC-KR 10 49914624 49914624 single base substitution G T upstream_gene_variant LUSC-KR 10 49916574 49916574 single base substitution G T intron_variant LUSC-KR 10 49916574 49916574 single base substitution G T upstream_gene_variant LUSC-KR 10 49918175 49918175 single base substitution C T intron_variant LUSC-KR 10 49921443 49921443 single base substitution A T intron_variant LUSC-KR 10 49921444 49921444 single base substitution C A intron_variant LUSC-KR 10 49923695 49923695 single base substitution G T intron_variant LUSC-KR 10 49924107 49924107 single base substitution T C intron_variant LUSC-KR 10 49924818 49924818 single base substitution C G intron_variant LUSC-KR 10 49927476 49927476 single base substitution C A intron_variant LUSC-KR 10 49927990 49927990 single base substitution G T intron_variant LUSC-KR 10 49928905 49928905 single base substitution G T intron_variant LUSC-KR 10 49929965 49929965 single base substitution G A intron_variant LUSC-KR 10 49933685 49933685 single base substitution G A intron_variant LUSC-KR 10 49934929 49934929 single base substitution G A intron_variant LUSC-KR 10 49936656 49936656 single base substitution C G intron_variant LUSC-KR 10 49937466 49937466 single base substitution T A intron_variant LUSC-KR 10 49939077 49939077 single base substitution T A intron_variant LUSC-KR 10 49939139 49939139 single base substitution T A intron_variant LUSC-KR 10 49940200 49940200 single base substitution C A intron_variant LUSC-KR 10 49942722 49942722 single base substitution A T intron_variant LUSC-KR 10 49943253 49943253 single base substitution C G intron_variant LUSC-KR 10 49943540 49943540 single base substitution T C intron_variant LUSC-KR 10 49944249 49944249 single base substitution C T 3_prime_UTR_variant LUSC-KR 10 49944249 49944249 single base substitution C T intron_variant LUSC-KR 10 49945080 49945080 single base substitution C A downstream_gene_variant LUSC-KR 10 49945080 49945080 single base substitution C A intron_variant LUSC-KR 10 49951902 49951902 single base substitution C A intron_variant LUSC-KR 10 49951903 49951903 single base substitution C G intron_variant LUSC-KR 10 49954783 49954783 single base substitution T A intron_variant LUSC-KR 10 49958403 49958403 single base substitution C A intron_variant LUSC-KR 10 49959912 49959912 single base substitution A T intron_variant LUSC-KR 10 49960664 49960664 single base substitution G T intron_variant LUSC-KR 10 49962505 49962505 single base substitution T C intron_variant LUSC-KR 10 49970404 49970404 single base substitution T C intron_variant LUSC-KR 10 49971629 49971629 single base substitution T C intron_variant LUSC-KR 10 49973292 49973292 single base substitution C A intron_variant LUSC-KR 10 49974357 49974357 single base substitution C A intron_variant LUSC-KR 10 49976295 49976295 single base substitution C G intron_variant LUSC-KR 10 49977162 49977162 single base substitution G C intron_variant LUSC-KR 10 49979874 49979874 single base substitution C T intron_variant LUSC-KR 10 49980162 49980162 single base substitution C T intron_variant LUSC-KR 10 49982530 49982530 single base substitution G T missense_variant A861S 2581G>T LUSC-KR 10 49985788 49985788 single base substitution C G intron_variant LUSC-KR 10 49985789 49985789 single base substitution A C intron_variant LUSC-KR 10 49986983 49986983 single base substitution T A intron_variant LUSC-KR 10 49987805 49987805 single base substitution G A intron_variant LUSC-KR 10 49988044 49988044 single base substitution G T intron_variant LUSC-KR 10 49988044 49988044 single base substitution G T missense_variant R1152S 3456G>T LUSC-KR 10 49989289 49989289 single base substitution G A intron_variant LUSC-KR 10 49990084 49990084 single base substitution C T intron_variant LUSC-KR 10 49992181 49992181 single base substitution A G intron_variant LUSC-KR 10 49992384 49992384 single base substitution A T intron_variant LUSC-KR 10 49993808 49993808 single base substitution G T intron_variant LUSC-KR 10 49994441 49994441 single base substitution T C intron_variant LUSC-KR 10 49995855 49995855 single base substitution T C intron_variant LUSC-KR 10 49995858 49995858 single base substitution T C intron_variant LUSC-KR 10 49996033 49996033 single base substitution T A intron_variant LUSC-KR 10 49996067 49996067 single base substitution C T intron_variant LUSC-KR 10 49998142 49998142 single base substitution C A intron_variant LUSC-KR 10 49998175 49998175 single base substitution C G intron_variant LUSC-KR 10 50003323 50003323 single base substitution G T intron_variant LUSC-KR 10 50007316 50007316 single base substitution G C intron_variant LUSC-KR 10 50007316 50007316 single base substitution G C upstream_gene_variant LUSC-KR 10 50011841 50011841 single base substitution G C intron_variant LUSC-KR 10 50016345 50016345 single base substitution A G intron_variant LUSC-KR 10 50016809 50016809 single base substitution C A intron_variant LUSC-KR 10 50017470 50017470 single base substitution A G intron_variant LUSC-KR 10 50018255 50018255 single base substitution A T intron_variant LUSC-KR 10 50019981 50019981 single base substitution A G intron_variant LUSC-KR 10 50021148 50021148 single base substitution C A intron_variant LUSC-KR 10 50021527 50021527 single base substitution C T intron_variant LUSC-KR 10 50023936 50023936 single base substitution G A intron_variant LUSC-KR 10 50030306 50030306 single base substitution G T intron_variant LUSC-KR 10 50030307 50030307 single base substitution G T intron_variant LUSC-KR 10 50033001 50033001 single base substitution T G downstream_gene_variant LUSC-KR 10 50033001 50033001 single base substitution T G intron_variant LUSC-KR 10 50035520 50035520 single base substitution T A downstream_gene_variant LUSC-KR 10 50035520 50035520 single base substitution T A intron_variant LUSC-KR 10 50036983 50036983 single base substitution C G downstream_gene_variant LUSC-KR 10 50036983 50036983 single base substitution C G intron_variant LUSC-KR 10 50038050 50038050 single base substitution C A intron_variant LUSC-KR 10 50038083 50038083 single base substitution C T intron_variant LUSC-KR 10 50040235 50040235 single base substitution T G intron_variant LUSC-KR 10 50041221 50041221 single base substitution A T intron_variant LUSC-KR 10 50045275 50045275 single base substitution G T intron_variant LUSC-KR 10 50048458 50048458 single base substitution C T intron_variant LUSC-KR 10 50049471 50049471 single base substitution A T intron_variant LUSC-KR 10 50051185 50051185 single base substitution T C intron_variant LUSC-KR 10 50053227 50053227 single base substitution G T intron_variant LUSC-KR 10 50055411 50055411 single base substitution C A intron_variant LUSC-KR 10 50057835 50057835 single base substitution C G intron_variant LUSC-KR 10 50058953 50058953 single base substitution A G intron_variant LUSC-KR 10 50063273 50063273 single base substitution C G intron_variant LUSC-KR 10 50065188 50065188 single base substitution G T intron_variant LUSC-KR 10 50066602 50066602 single base substitution C A intron_variant LUSC-KR 10 50068357 50068357 single base substitution C A intron_variant LUSC-KR 10 50068586 50068586 single base substitution C T intron_variant LUSC-KR 10 50068980 50068980 single base substitution A G intron_variant LUSC-KR 10 50069585 50069585 single base substitution C G intron_variant LUSC-KR 10 50071256 50071256 single base substitution G T intron_variant LUSC-KR 10 50078911 50078911 single base substitution G T intron_variant LUSC-KR 10 50079279 50079279 single base substitution C A intron_variant LUSC-KR 10 50082358 50082358 single base substitution C T intron_variant LUSC-KR 10 50087100 50087100 single base substitution C A intron_variant LUSC-KR 10 50093771 50093771 single base substitution C G intron_variant LUSC-KR 10 50094019 50094019 single base substitution T C intron_variant LUSC-KR 10 50098078 50098078 single base substitution G T intron_variant LUSC-KR 10 50105407 50105407 single base substitution G A intron_variant LUSC-KR 10 50106475 50106475 single base substitution C T intron_variant LUSC-KR 10 50110198 50110198 single base substitution G C intron_variant LUSC-KR 10 50111383 50111383 single base substitution G T intron_variant LUSC-KR 10 50111433 50111433 single base substitution T C intron_variant LUSC-KR 10 50113179 50113179 single base substitution A G intron_variant LUSC-KR 10 50115023 50115023 single base substitution C T intron_variant LUSC-KR 10 50115212 50115212 single base substitution T G intron_variant LUSC-KR 10 50119912 50119912 single base substitution G A intron_variant LUSC-KR 10 50119918 50119918 single base substitution G C intron_variant LUSC-KR 10 50121634 50121634 single base substitution T C intron_variant LUSC-KR 10 50121778 50121778 single base substitution C T intron_variant LUSC-KR 10 50129691 50129691 single base substitution T A intron_variant LUSC-KR 10 50130887 50130887 single base substitution C A intron_variant LUSC-KR 10 50132645 50132645 single base substitution G C intron_variant LUSC-KR 10 50135130 50135130 single base substitution C A intron_variant LUSC-KR 10 50138034 50138034 single base substitution G T intron_variant LUSC-KR 10 50141195 50141195 single base substitution C A intron_variant LUSC-KR 10 50141480 50141480 single base substitution C A intron_variant LUSC-KR 10 50142848 50142848 single base substitution C G intron_variant LUSC-KR 10 50142949 50142949 single base substitution C T intron_variant LUSC-KR 10 50144390 50144390 single base substitution G A intron_variant LUSC-KR 10 50145073 50145073 single base substitution G T intron_variant LUSC-KR 10 50146522 50146522 single base substitution C T intron_variant LUSC-KR 10 50149976 50149976 single base substitution G T intron_variant LUSC-KR 10 50149976 50149976 single base substitution G T upstream_gene_variant LUSC-KR 10 50150586 50150586 single base substitution C G intron_variant LUSC-KR 10 50150586 50150586 single base substitution C G upstream_gene_variant LUSC-KR 10 50156964 50156964 single base substitution C G intron_variant LUSC-KR 10 50158425 50158425 single base substitution C A intron_variant LUSC-KR 10 50161380 50161380 single base substitution A T intron_variant LUSC-KR 10 50161382 50161382 single base substitution A T intron_variant LUSC-KR 10 50165528 50165528 single base substitution C A intron_variant LUSC-KR 10 50170163 50170163 single base substitution C T intron_variant LUSC-KR 10 50170983 50170983 single base substitution G T intron_variant LUSC-KR 10 50173819 50173819 single base substitution A G intron_variant LUSC-KR 10 50173819 50173819 single base substitution A G upstream_gene_variant LUSC-KR 10 50173831 50173831 single base substitution T C intron_variant LUSC-KR 10 50173831 50173831 single base substitution T C upstream_gene_variant LUSC-KR 10 50176031 50176031 single base substitution T C exon_variant LUSC-KR 10 50176031 50176031 single base substitution T C intron_variant LUSC-KR 10 50176031 50176031 single base substitution T C upstream_gene_variant LUSC-KR 10 50177410 50177410 single base substitution G C intron_variant LUSC-KR 10 50177591 50177591 single base substitution G T intron_variant LUSC-KR 10 50179514 50179514 single base substitution C T intron_variant LUSC-KR 10 50179946 50179946 single base substitution C G intron_variant LUSC-KR 10 50180346 50180346 single base substitution A G intron_variant LUSC-KR 10 50180832 50180832 single base substitution A G intron_variant LUSC-KR 10 50180894 50180894 single base substitution G C intron_variant LUSC-KR 10 50182426 50182426 single base substitution G C intron_variant LUSC-KR 10 50182426 50182426 single base substitution G C upstream_gene_variant LUSC-KR 10 50182707 50182707 single base substitution G A intron_variant LUSC-KR 10 50182707 50182707 single base substitution G A upstream_gene_variant LUSC-KR 10 50183125 50183125 single base substitution C T intron_variant LUSC-KR 10 50183125 50183125 single base substitution C T upstream_gene_variant LUSC-KR 10 50185313 50185313 single base substitution G T downstream_gene_variant LUSC-KR 10 50185313 50185313 single base substitution G T intron_variant LUSC-KR 10 50185313 50185313 single base substitution G T upstream_gene_variant LUSC-KR 10 50188403 50188403 single base substitution C A downstream_gene_variant LUSC-KR 10 50188403 50188403 single base substitution C A intron_variant LUSC-KR 10 50189389 50189389 single base substitution C G downstream_gene_variant LUSC-KR 10 50189389 50189389 single base substitution C G intron_variant LUSC-KR 10 50190732 50190732 single base substitution C A 3_prime_UTR_variant LUSC-KR 10 50190732 50190732 single base substitution C A exon_variant LUSC-KR 10 50190732 50190732 single base substitution C A intron_variant LUSC-KR 10 50191667 50191667 single base substitution G T downstream_gene_variant LUSC-KR 10 50191842 50191842 single base substitution G T downstream_gene_variant LUSC-KR 10 50193337 50193337 single base substitution C A downstream_gene_variant LUSC-KR 10 50193859 50193859 single base substitution C G downstream_gene_variant LUSC-KR 10 50195434 50195434 single base substitution G C downstream_gene_variant LUSC-US 10 50121473 50121473 single base substitution G C intron_variant MALY-DE 10 49889577 49889577 single base substitution C A upstream_gene_variant MALY-DE 10 49889611 49889611 single base substitution C T upstream_gene_variant MALY-DE 10 49890630 49890630 single base substitution C A upstream_gene_variant MALY-DE 10 49896692 49896692 single base substitution G A intron_variant MALY-DE 10 49899252 49899252 single base substitution C G intron_variant MALY-DE 10 49899945 49899945 single base substitution T G intron_variant MALY-DE 10 49932917 49932917 single base substitution T C intron_variant MALY-DE 10 49938323 49938323 single base substitution G C intron_variant MALY-DE 10 49950337 49950337 single base substitution C A intron_variant MALY-DE 10 49951249 49951249 single base substitution T C synonymous_variant N705N 2115T>C MALY-DE 10 49951489 49951489 single base substitution G A synonymous_variant K785K 2355G>A MALY-DE 10 49955770 49955770 single base substitution C T intron_variant MALY-DE 10 49958158 49958158 single base substitution C A intron_variant MALY-DE 10 49966183 49966183 single base substitution A G intron_variant MALY-DE 10 49967082 49967083 deletion of <=200bp AT - intron_variant MALY-DE 10 49991556 49991556 single base substitution C G intron_variant MALY-DE 10 49995314 49995314 single base substitution C G intron_variant MALY-DE 10 49995357 49995357 single base substitution T C intron_variant MALY-DE 10 49996068 49996068 insertion of <=200bp - CTT intron_variant MALY-DE 10 50000449 50000449 single base substitution T G intron_variant MALY-DE 10 50011849 50011849 single base substitution G T intron_variant MALY-DE 10 50012269 50012269 single base substitution C T intron_variant MALY-DE 10 50028890 50028890 single base substitution C T intron_variant MALY-DE 10 50028890 50028890 single base substitution C T upstream_gene_variant MALY-DE 10 50040529 50040529 single base substitution C A intron_variant MALY-DE 10 50044287 50044287 single base substitution A G intron_variant MALY-DE 10 50044419 50044419 single base substitution G A intron_variant MALY-DE 10 50045824 50045824 single base substitution C T intron_variant MALY-DE 10 50054805 50054805 single base substitution C T intron_variant MALY-DE 10 50058831 50058831 single base substitution G A intron_variant MALY-DE 10 50059755 50059755 single base substitution C T intron_variant MALY-DE 10 50059944 50059944 single base substitution A C intron_variant MALY-DE 10 50070567 50070567 single base substitution C T intron_variant MALY-DE 10 50071460 50071460 single base substitution T G intron_variant MALY-DE 10 50080401 50080401 single base substitution T G intron_variant MALY-DE 10 50085909 50085909 single base substitution C A intron_variant MALY-DE 10 50093775 50093775 single base substitution C A intron_variant MALY-DE 10 50093777 50093777 single base substitution C A intron_variant MALY-DE 10 50094544 50094544 single base substitution T C intron_variant MALY-DE 10 50095683 50095683 single base substitution G C intron_variant MALY-DE 10 50098814 50098814 single base substitution C T intron_variant MALY-DE 10 50100063 50100063 single base substitution C G intron_variant MALY-DE 10 50106889 50106889 single base substitution T A intron_variant MALY-DE 10 50107123 50107123 single base substitution T C intron_variant MALY-DE 10 50107571 50107571 single base substitution T G intron_variant MALY-DE 10 50110229 50110229 single base substitution C T intron_variant MALY-DE 10 50113712 50113712 single base substitution C A intron_variant MALY-DE 10 50115656 50115656 single base substitution A T intron_variant MALY-DE 10 50123777 50123777 single base substitution C T intron_variant MALY-DE 10 50138743 50138743 single base substitution T A intron_variant MALY-DE 10 50141455 50141455 single base substitution T G intron_variant MALY-DE 10 50149213 50149213 single base substitution T A intron_variant MALY-DE 10 50149213 50149213 single base substitution T A upstream_gene_variant MALY-DE 10 50165683 50165683 single base substitution A G intron_variant MALY-DE 10 50170987 50170987 single base substitution A C intron_variant MALY-DE 10 50172328 50172328 single base substitution C T intron_variant MALY-DE 10 50172328 50172328 single base substitution C T upstream_gene_variant MALY-DE 10 50177414 50177414 single base substitution T C intron_variant MALY-DE 10 50184059 50184059 single base substitution G A intron_variant MALY-DE 10 50184059 50184059 single base substitution G A upstream_gene_variant MALY-DE 10 50191875 50191875 single base substitution C T downstream_gene_variant MELA-AU 10 49888126 49888126 single base substitution G A upstream_gene_variant MELA-AU 10 49888171 49888171 single base substitution A T upstream_gene_variant MELA-AU 10 49888207 49888207 single base substitution C T upstream_gene_variant MELA-AU 10 49888284 49888284 single base substitution G A upstream_gene_variant MELA-AU 10 49888385 49888385 single base substitution C T upstream_gene_variant MELA-AU 10 49888443 49888443 single base substitution A T upstream_gene_variant MELA-AU 10 49888654 49888654 single base substitution G A upstream_gene_variant MELA-AU 10 49888661 49888661 single base substitution C T upstream_gene_variant MELA-AU 10 49888696 49888696 single base substitution C T upstream_gene_variant MELA-AU 10 49888739 49888739 single base substitution C T upstream_gene_variant MELA-AU 10 49888837 49888837 single base substitution C T upstream_gene_variant MELA-AU 10 49888853 49888853 single base substitution C T upstream_gene_variant MELA-AU 10 49888900 49888900 single base substitution C T upstream_gene_variant MELA-AU 10 49889083 49889083 deletion of <=200bp G - upstream_gene_variant MELA-AU 10 49889103 49889103 single base substitution G A upstream_gene_variant MELA-AU 10 49889304 49889304 single base substitution C T upstream_gene_variant MELA-AU 10 49889378 49889378 single base substitution C T upstream_gene_variant MELA-AU 10 49889577 49889577 single base substitution C T upstream_gene_variant MELA-AU 10 49889708 49889708 single base substitution C T upstream_gene_variant MELA-AU 10 49889831 49889831 single base substitution C T upstream_gene_variant MELA-AU 10 49889927 49889927 single base substitution C T upstream_gene_variant MELA-AU 10 49890153 49890153 single base substitution C T upstream_gene_variant MELA-AU 10 49890254 49890254 single base substitution C T upstream_gene_variant MELA-AU 10 49890350 49890350 single base substitution G A upstream_gene_variant MELA-AU 10 49890551 49890551 single base substitution G A upstream_gene_variant MELA-AU 10 49890561 49890561 single base substitution C T upstream_gene_variant MELA-AU 10 49890774 49890774 single base substitution C T upstream_gene_variant MELA-AU 10 49890789 49890789 single base substitution C T upstream_gene_variant MELA-AU 10 49891143 49891143 single base substitution G A upstream_gene_variant MELA-AU 10 49891172 49891172 single base substitution C T upstream_gene_variant MELA-AU 10 49891695 49891695 single base substitution T C upstream_gene_variant MELA-AU 10 49891713 49891713 single base substitution T C upstream_gene_variant MELA-AU 10 49891718 49891718 single base substitution C T upstream_gene_variant MELA-AU 10 49891796 49891796 single base substitution G A upstream_gene_variant MELA-AU 10 49891849 49891849 single base substitution C T upstream_gene_variant MELA-AU 10 49891941 49891941 single base substitution G A upstream_gene_variant MELA-AU 10 49891960 49891960 single base substitution C T upstream_gene_variant MELA-AU 10 49892793 49892793 single base substitution C T upstream_gene_variant MELA-AU 10 49892866 49892866 single base substitution C T upstream_gene_variant MELA-AU 10 49892887 49892887 single base substitution G A upstream_gene_variant MELA-AU 10 49893062 49893062 single base substitution C T intron_variant MELA-AU 10 49893078 49893078 single base substitution C T intron_variant MELA-AU 10 49893153 49893153 single base substitution G A intron_variant MELA-AU 10 49893215 49893215 single base substitution A C intron_variant MELA-AU 10 49893220 49893220 single base substitution G A intron_variant MELA-AU 10 49893367 49893368 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 49893380 49893380 single base substitution G A intron_variant MELA-AU 10 49893518 49893518 single base substitution C T intron_variant MELA-AU 10 49893606 49893606 single base substitution C T intron_variant MELA-AU 10 49893636 49893636 single base substitution G A intron_variant MELA-AU 10 49893665 49893665 single base substitution G A intron_variant MELA-AU 10 49893682 49893682 single base substitution G A intron_variant MELA-AU 10 49893730 49893730 single base substitution G A intron_variant MELA-AU 10 49893764 49893764 single base substitution G A intron_variant MELA-AU 10 49893803 49893803 single base substitution C T intron_variant MELA-AU 10 49893890 49893890 single base substitution C T intron_variant MELA-AU 10 49893923 49893923 single base substitution G A intron_variant MELA-AU 10 49894064 49894064 single base substitution G A intron_variant MELA-AU 10 49894098 49894098 single base substitution G A intron_variant MELA-AU 10 49894111 49894111 single base substitution C T intron_variant MELA-AU 10 49894160 49894160 single base substitution C T intron_variant MELA-AU 10 49894176 49894176 single base substitution C T intron_variant MELA-AU 10 49894261 49894261 single base substitution C T intron_variant MELA-AU 10 49894336 49894336 single base substitution G A intron_variant MELA-AU 10 49894565 49894565 single base substitution C T intron_variant MELA-AU 10 49894605 49894605 single base substitution C T intron_variant MELA-AU 10 49894700 49894700 single base substitution G A intron_variant MELA-AU 10 49894996 49894996 single base substitution C T intron_variant MELA-AU 10 49894997 49894997 single base substitution C T intron_variant MELA-AU 10 49895019 49895019 single base substitution C T intron_variant MELA-AU 10 49895020 49895020 single base substitution C T intron_variant MELA-AU 10 49895201 49895201 single base substitution G A intron_variant MELA-AU 10 49895211 49895211 single base substitution C T intron_variant MELA-AU 10 49895356 49895356 single base substitution T C intron_variant MELA-AU 10 49895385 49895385 single base substitution G A intron_variant MELA-AU 10 49895543 49895543 single base substitution C T intron_variant MELA-AU 10 49895607 49895607 single base substitution C T intron_variant MELA-AU 10 49895608 49895608 single base substitution C T intron_variant MELA-AU 10 49895701 49895701 single base substitution C T intron_variant MELA-AU 10 49895723 49895723 single base substitution G A intron_variant MELA-AU 10 49895918 49895918 single base substitution C T intron_variant MELA-AU 10 49895925 49895925 single base substitution C T intron_variant MELA-AU 10 49896070 49896070 single base substitution C T intron_variant MELA-AU 10 49896074 49896074 single base substitution C T intron_variant MELA-AU 10 49896203 49896203 single base substitution C T intron_variant MELA-AU 10 49896206 49896206 single base substitution G A intron_variant MELA-AU 10 49896512 49896512 single base substitution G A intron_variant MELA-AU 10 49896723 49896723 single base substitution G A intron_variant MELA-AU 10 49897050 49897050 single base substitution A T intron_variant MELA-AU 10 49897080 49897080 single base substitution C T intron_variant MELA-AU 10 49897102 49897102 single base substitution C T intron_variant MELA-AU 10 49897146 49897146 single base substitution G A intron_variant MELA-AU 10 49897150 49897150 single base substitution A T intron_variant MELA-AU 10 49897240 49897240 single base substitution G A intron_variant MELA-AU 10 49897258 49897258 single base substitution C T intron_variant MELA-AU 10 49897325 49897325 single base substitution C T intron_variant MELA-AU 10 49897672 49897672 single base substitution C T intron_variant MELA-AU 10 49897709 49897709 single base substitution G A intron_variant MELA-AU 10 49897734 49897734 single base substitution C T intron_variant MELA-AU 10 49897810 49897810 single base substitution C T intron_variant MELA-AU 10 49897821 49897821 single base substitution G A intron_variant MELA-AU 10 49897938 49897938 single base substitution A C intron_variant MELA-AU 10 49898161 49898161 single base substitution T A intron_variant MELA-AU 10 49898205 49898205 single base substitution C T intron_variant MELA-AU 10 49898285 49898285 single base substitution C T intron_variant MELA-AU 10 49898300 49898301 multiple base substitution (>=2bp and <=200bp) CC AA intron_variant MELA-AU 10 49898317 49898317 single base substitution G A intron_variant MELA-AU 10 49898364 49898364 single base substitution G A intron_variant MELA-AU 10 49898678 49898678 single base substitution C T intron_variant MELA-AU 10 49898744 49898744 single base substitution C T intron_variant MELA-AU 10 49898868 49898868 single base substitution G A intron_variant MELA-AU 10 49898894 49898894 single base substitution T A intron_variant MELA-AU 10 49899017 49899017 single base substitution C T intron_variant MELA-AU 10 49899055 49899055 single base substitution C T intron_variant MELA-AU 10 49899208 49899208 single base substitution C T intron_variant MELA-AU 10 49899377 49899377 single base substitution C T intron_variant MELA-AU 10 49899403 49899403 single base substitution G A intron_variant MELA-AU 10 49899566 49899566 single base substitution G A intron_variant MELA-AU 10 49899586 49899586 single base substitution C T intron_variant MELA-AU 10 49899599 49899599 single base substitution C T intron_variant MELA-AU 10 49899677 49899677 single base substitution G A intron_variant MELA-AU 10 49899737 49899737 single base substitution A G intron_variant MELA-AU 10 49899798 49899798 single base substitution G A intron_variant MELA-AU 10 49899909 49899909 single base substitution C T intron_variant MELA-AU 10 49899921 49899921 single base substitution G A intron_variant MELA-AU 10 49899979 49899979 single base substitution G A intron_variant MELA-AU 10 49900057 49900057 single base substitution G A intron_variant MELA-AU 10 49900435 49900435 single base substitution C T intron_variant MELA-AU 10 49900481 49900481 single base substitution C T intron_variant MELA-AU 10 49900543 49900543 single base substitution G A intron_variant MELA-AU 10 49900623 49900623 single base substitution G A intron_variant MELA-AU 10 49900644 49900644 single base substitution C T intron_variant MELA-AU 10 49900669 49900669 single base substitution G A intron_variant MELA-AU 10 49900818 49900818 single base substitution G A intron_variant MELA-AU 10 49900819 49900819 single base substitution G A intron_variant MELA-AU 10 49900861 49900861 single base substitution C T intron_variant MELA-AU 10 49901012 49901012 single base substitution G A intron_variant MELA-AU 10 49901068 49901068 single base substitution G A intron_variant MELA-AU 10 49901166 49901166 single base substitution G A intron_variant MELA-AU 10 49901219 49901219 single base substitution G A intron_variant MELA-AU 10 49901279 49901279 single base substitution G A intron_variant MELA-AU 10 49901519 49901519 single base substitution C T intron_variant MELA-AU 10 49901765 49901765 single base substitution G A intron_variant MELA-AU 10 49901784 49901784 single base substitution C T intron_variant MELA-AU 10 49901803 49901803 single base substitution T C intron_variant MELA-AU 10 49901929 49901929 single base substitution G A intron_variant MELA-AU 10 49901949 49901949 single base substitution C G intron_variant MELA-AU 10 49902073 49902073 single base substitution C T intron_variant MELA-AU 10 49902176 49902176 single base substitution A C intron_variant MELA-AU 10 49902225 49902225 single base substitution C T intron_variant MELA-AU 10 49902226 49902226 single base substitution C T intron_variant MELA-AU 10 49902250 49902250 single base substitution G A intron_variant MELA-AU 10 49902306 49902306 single base substitution A G intron_variant MELA-AU 10 49902367 49902367 single base substitution C T intron_variant MELA-AU 10 49902376 49902376 single base substitution T G intron_variant MELA-AU 10 49902391 49902391 single base substitution C T intron_variant MELA-AU 10 49902544 49902544 single base substitution C T intron_variant MELA-AU 10 49902579 49902579 single base substitution C T intron_variant MELA-AU 10 49902941 49902941 single base substitution C T intron_variant MELA-AU 10 49902972 49902972 single base substitution C T intron_variant MELA-AU 10 49902998 49902998 single base substitution C T intron_variant MELA-AU 10 49903076 49903076 single base substitution A T intron_variant MELA-AU 10 49903233 49903233 single base substitution C T intron_variant MELA-AU 10 49903489 49903489 single base substitution G A intron_variant MELA-AU 10 49903507 49903507 single base substitution G A intron_variant MELA-AU 10 49903525 49903525 single base substitution C T intron_variant MELA-AU 10 49903586 49903586 single base substitution G A intron_variant MELA-AU 10 49903701 49903701 single base substitution C T intron_variant MELA-AU 10 49903708 49903708 single base substitution G A intron_variant MELA-AU 10 49903832 49903832 single base substitution G A intron_variant MELA-AU 10 49903928 49903928 single base substitution C T intron_variant MELA-AU 10 49904008 49904008 single base substitution G A intron_variant MELA-AU 10 49904068 49904068 single base substitution C T intron_variant MELA-AU 10 49904106 49904106 single base substitution C T intron_variant MELA-AU 10 49904107 49904107 single base substitution C T intron_variant MELA-AU 10 49904160 49904160 single base substitution G A intron_variant MELA-AU 10 49904177 49904177 single base substitution C T intron_variant MELA-AU 10 49904230 49904230 single base substitution G A intron_variant MELA-AU 10 49904363 49904363 single base substitution G A intron_variant MELA-AU 10 49904482 49904482 single base substitution C T intron_variant MELA-AU 10 49904577 49904577 single base substitution C T intron_variant MELA-AU 10 49904667 49904667 single base substitution G A intron_variant MELA-AU 10 49904696 49904696 single base substitution G A intron_variant MELA-AU 10 49904716 49904716 single base substitution A G intron_variant MELA-AU 10 49904940 49904940 single base substitution C T intron_variant MELA-AU 10 49904971 49904971 single base substitution G A intron_variant MELA-AU 10 49904989 49904989 single base substitution T C intron_variant MELA-AU 10 49904994 49904994 single base substitution G A intron_variant MELA-AU 10 49905059 49905059 single base substitution C T intron_variant MELA-AU 10 49905309 49905309 single base substitution C T intron_variant MELA-AU 10 49905318 49905318 single base substitution C A intron_variant MELA-AU 10 49905532 49905532 single base substitution G A intron_variant MELA-AU 10 49905672 49905672 single base substitution C T intron_variant MELA-AU 10 49905710 49905710 single base substitution C T intron_variant MELA-AU 10 49905842 49905842 single base substitution C T intron_variant MELA-AU 10 49905915 49905915 single base substitution C T intron_variant MELA-AU 10 49905926 49905926 single base substitution G A intron_variant MELA-AU 10 49905938 49905938 single base substitution C T intron_variant MELA-AU 10 49905953 49905953 single base substitution T C intron_variant MELA-AU 10 49906223 49906223 single base substitution C T intron_variant MELA-AU 10 49906292 49906292 single base substitution C T intron_variant MELA-AU 10 49906296 49906296 single base substitution G A intron_variant MELA-AU 10 49906445 49906445 single base substitution C T intron_variant MELA-AU 10 49906661 49906661 single base substitution G A intron_variant MELA-AU 10 49906744 49906744 single base substitution C T intron_variant MELA-AU 10 49906778 49906778 single base substitution A T intron_variant MELA-AU 10 49906887 49906887 single base substitution G A intron_variant MELA-AU 10 49907049 49907075 deletion of <=200bp AGACCTAGCCGGCCCGTGCAGCCCCAG - intron_variant MELA-AU 10 49907071 49907071 single base substitution C T intron_variant MELA-AU 10 49907124 49907124 single base substitution C T intron_variant MELA-AU 10 49907166 49907166 single base substitution G A intron_variant MELA-AU 10 49907185 49907185 single base substitution G A intron_variant MELA-AU 10 49907188 49907188 single base substitution G A intron_variant MELA-AU 10 49907194 49907194 single base substitution G A intron_variant MELA-AU 10 49907303 49907303 single base substitution G A intron_variant MELA-AU 10 49907361 49907361 single base substitution C T intron_variant MELA-AU 10 49907420 49907420 single base substitution C T intron_variant MELA-AU 10 49907478 49907478 single base substitution G A intron_variant MELA-AU 10 49907500 49907500 single base substitution A T intron_variant MELA-AU 10 49907523 49907523 single base substitution G A intron_variant MELA-AU 10 49907560 49907560 single base substitution G A intron_variant MELA-AU 10 49907591 49907591 single base substitution G A intron_variant MELA-AU 10 49907644 49907644 single base substitution C T intron_variant MELA-AU 10 49907646 49907646 single base substitution G A intron_variant MELA-AU 10 49907990 49907990 single base substitution C T intron_variant MELA-AU 10 49908061 49908061 single base substitution C A intron_variant MELA-AU 10 49908075 49908075 single base substitution C T intron_variant MELA-AU 10 49908284 49908284 single base substitution C T intron_variant MELA-AU 10 49908350 49908350 single base substitution C T intron_variant MELA-AU 10 49908393 49908393 single base substitution T C intron_variant MELA-AU 10 49908454 49908454 single base substitution C T intron_variant MELA-AU 10 49908518 49908518 single base substitution C T intron_variant MELA-AU 10 49908522 49908522 single base substitution C T intron_variant MELA-AU 10 49908634 49908634 single base substitution G A intron_variant MELA-AU 10 49908695 49908695 single base substitution C T intron_variant MELA-AU 10 49908741 49908741 single base substitution C T intron_variant MELA-AU 10 49908782 49908782 single base substitution C T intron_variant MELA-AU 10 49908856 49908856 single base substitution G A intron_variant MELA-AU 10 49908933 49908933 single base substitution G A intron_variant MELA-AU 10 49908962 49908962 single base substitution C T intron_variant MELA-AU 10 49908992 49908992 single base substitution C T intron_variant MELA-AU 10 49909154 49909154 single base substitution A G intron_variant MELA-AU 10 49909178 49909178 single base substitution T C intron_variant MELA-AU 10 49909202 49909202 single base substitution C T intron_variant MELA-AU 10 49909209 49909209 single base substitution C T intron_variant MELA-AU 10 49909577 49909577 single base substitution T C intron_variant MELA-AU 10 49909833 49909833 single base substitution C T intron_variant MELA-AU 10 49910004 49910004 single base substitution C T intron_variant MELA-AU 10 49910006 49910006 single base substitution C T intron_variant MELA-AU 10 49910066 49910066 single base substitution G A intron_variant MELA-AU 10 49910413 49910413 single base substitution C T intron_variant MELA-AU 10 49910517 49910517 single base substitution G A intron_variant MELA-AU 10 49910668 49910668 single base substitution C T intron_variant MELA-AU 10 49910767 49910767 single base substitution G A intron_variant MELA-AU 10 49911003 49911003 single base substitution C T intron_variant MELA-AU 10 49911077 49911077 single base substitution C T intron_variant MELA-AU 10 49911166 49911166 single base substitution G A intron_variant MELA-AU 10 49911286 49911286 single base substitution G C intron_variant MELA-AU 10 49911303 49911303 single base substitution C T intron_variant MELA-AU 10 49911352 49911352 single base substitution T C intron_variant MELA-AU 10 49911554 49911554 single base substitution C T intron_variant MELA-AU 10 49911864 49911864 single base substitution G A intron_variant MELA-AU 10 49911923 49911923 single base substitution C T intron_variant MELA-AU 10 49912029 49912029 single base substitution C T intron_variant MELA-AU 10 49912086 49912086 single base substitution G A intron_variant MELA-AU 10 49912144 49912144 single base substitution C T intron_variant MELA-AU 10 49912242 49912242 single base substitution G A intron_variant MELA-AU 10 49912325 49912325 single base substitution C T intron_variant MELA-AU 10 49912345 49912345 single base substitution C T intron_variant MELA-AU 10 49912355 49912355 single base substitution C T intron_variant MELA-AU 10 49912517 49912517 single base substitution C T intron_variant MELA-AU 10 49912526 49912526 single base substitution C T intron_variant MELA-AU 10 49912567 49912567 single base substitution C T intron_variant MELA-AU 10 49912707 49912707 single base substitution C T intron_variant MELA-AU 10 49912709 49912709 single base substitution G A intron_variant MELA-AU 10 49912799 49912799 single base substitution G A intron_variant MELA-AU 10 49912799 49912799 single base substitution G A upstream_gene_variant MELA-AU 10 49912837 49912837 single base substitution C T intron_variant MELA-AU 10 49912837 49912837 single base substitution C T upstream_gene_variant MELA-AU 10 49912931 49912931 single base substitution G A intron_variant MELA-AU 10 49912931 49912931 single base substitution G A upstream_gene_variant MELA-AU 10 49913056 49913056 single base substitution G C intron_variant MELA-AU 10 49913056 49913056 single base substitution G C upstream_gene_variant MELA-AU 10 49913207 49913207 single base substitution G A intron_variant MELA-AU 10 49913207 49913207 single base substitution G A upstream_gene_variant MELA-AU 10 49913245 49913245 single base substitution G A intron_variant MELA-AU 10 49913245 49913245 single base substitution G A upstream_gene_variant MELA-AU 10 49913360 49913360 single base substitution C T intron_variant MELA-AU 10 49913360 49913360 single base substitution C T upstream_gene_variant MELA-AU 10 49913588 49913588 single base substitution C T intron_variant MELA-AU 10 49913588 49913588 single base substitution C T upstream_gene_variant MELA-AU 10 49913606 49913606 single base substitution C T intron_variant MELA-AU 10 49913606 49913606 single base substitution C T upstream_gene_variant MELA-AU 10 49913623 49913623 single base substitution G A intron_variant MELA-AU 10 49913623 49913623 single base substitution G A upstream_gene_variant MELA-AU 10 49913636 49913636 single base substitution C T intron_variant MELA-AU 10 49913636 49913636 single base substitution C T upstream_gene_variant MELA-AU 10 49913739 49913739 single base substitution C T intron_variant MELA-AU 10 49913739 49913739 single base substitution C T upstream_gene_variant MELA-AU 10 49913753 49913753 single base substitution G A intron_variant MELA-AU 10 49913753 49913753 single base substitution G A upstream_gene_variant MELA-AU 10 49913781 49913781 single base substitution C T intron_variant MELA-AU 10 49913781 49913781 single base substitution C T upstream_gene_variant MELA-AU 10 49913816 49913816 single base substitution G A intron_variant MELA-AU 10 49913816 49913816 single base substitution G A upstream_gene_variant MELA-AU 10 49913963 49913963 single base substitution G A intron_variant MELA-AU 10 49913963 49913963 single base substitution G A upstream_gene_variant MELA-AU 10 49914175 49914175 single base substitution T A intron_variant MELA-AU 10 49914175 49914175 single base substitution T A upstream_gene_variant MELA-AU 10 49914184 49914184 single base substitution G A intron_variant MELA-AU 10 49914184 49914184 single base substitution G A upstream_gene_variant MELA-AU 10 49914302 49914302 single base substitution C T intron_variant MELA-AU 10 49914302 49914302 single base substitution C T upstream_gene_variant MELA-AU 10 49914306 49914306 single base substitution C T intron_variant MELA-AU 10 49914306 49914306 single base substitution C T upstream_gene_variant MELA-AU 10 49914350 49914350 single base substitution G A intron_variant MELA-AU 10 49914350 49914350 single base substitution G A upstream_gene_variant MELA-AU 10 49914719 49914719 single base substitution G A intron_variant MELA-AU 10 49914719 49914719 single base substitution G A upstream_gene_variant MELA-AU 10 49914816 49914816 single base substitution A C intron_variant MELA-AU 10 49914816 49914816 single base substitution A C upstream_gene_variant MELA-AU 10 49914876 49914876 single base substitution C T intron_variant MELA-AU 10 49914876 49914876 single base substitution C T upstream_gene_variant MELA-AU 10 49914919 49914919 single base substitution A G intron_variant MELA-AU 10 49914919 49914919 single base substitution A G upstream_gene_variant MELA-AU 10 49914963 49914963 single base substitution T C intron_variant MELA-AU 10 49914963 49914963 single base substitution T C upstream_gene_variant MELA-AU 10 49915078 49915078 single base substitution C T intron_variant MELA-AU 10 49915078 49915078 single base substitution C T upstream_gene_variant MELA-AU 10 49915528 49915528 single base substitution C T intron_variant MELA-AU 10 49915528 49915528 single base substitution C T upstream_gene_variant MELA-AU 10 49916456 49916456 single base substitution C T intron_variant MELA-AU 10 49916456 49916456 single base substitution C T upstream_gene_variant MELA-AU 10 49916597 49916597 single base substitution G A intron_variant MELA-AU 10 49916597 49916597 single base substitution G A upstream_gene_variant MELA-AU 10 49916910 49916910 single base substitution C T intron_variant MELA-AU 10 49916910 49916910 single base substitution C T upstream_gene_variant MELA-AU 10 49917030 49917030 single base substitution G A intron_variant MELA-AU 10 49917030 49917030 single base substitution G A upstream_gene_variant MELA-AU 10 49917136 49917136 single base substitution C T intron_variant MELA-AU 10 49917136 49917136 single base substitution C T upstream_gene_variant MELA-AU 10 49917137 49917137 single base substitution C T intron_variant MELA-AU 10 49917137 49917137 single base substitution C T upstream_gene_variant MELA-AU 10 49917505 49917505 single base substitution T G intron_variant MELA-AU 10 49917505 49917505 single base substitution T G upstream_gene_variant MELA-AU 10 49917583 49917583 single base substitution C T intron_variant MELA-AU 10 49917583 49917583 single base substitution C T upstream_gene_variant MELA-AU 10 49917601 49917601 single base substitution C T intron_variant MELA-AU 10 49917601 49917601 single base substitution C T upstream_gene_variant MELA-AU 10 49917621 49917621 single base substitution T C intron_variant MELA-AU 10 49917621 49917621 single base substitution T C upstream_gene_variant MELA-AU 10 49917781 49917781 single base substitution G A missense_variant E2K 4G>A MELA-AU 10 49917934 49917934 single base substitution G A missense_variant E53K 157G>A MELA-AU 10 49917962 49917962 single base substitution C T missense_variant P62L 185C>T MELA-AU 10 49917997 49917997 single base substitution C T missense_variant P74S 220C>T MELA-AU 10 49918255 49918255 single base substitution A G intron_variant MELA-AU 10 49918272 49918272 single base substitution T A intron_variant MELA-AU 10 49918276 49918276 single base substitution T A intron_variant MELA-AU 10 49918338 49918338 single base substitution C T intron_variant MELA-AU 10 49918386 49918386 single base substitution G A intron_variant MELA-AU 10 49918567 49918567 single base substitution C T intron_variant MELA-AU 10 49918595 49918595 single base substitution C T intron_variant MELA-AU 10 49918596 49918596 single base substitution C T intron_variant MELA-AU 10 49918607 49918607 single base substitution C T intron_variant MELA-AU 10 49918637 49918637 single base substitution C T intron_variant MELA-AU 10 49918909 49918909 single base substitution C T intron_variant MELA-AU 10 49918942 49918942 single base substitution G A intron_variant MELA-AU 10 49918996 49918996 single base substitution G A intron_variant MELA-AU 10 49919110 49919110 single base substitution G A intron_variant MELA-AU 10 49919305 49919305 single base substitution C T intron_variant MELA-AU 10 49919412 49919412 single base substitution C T intron_variant MELA-AU 10 49919458 49919458 single base substitution C T intron_variant MELA-AU 10 49919595 49919595 single base substitution G A intron_variant MELA-AU 10 49919638 49919638 single base substitution G A intron_variant MELA-AU 10 49919822 49919822 single base substitution C T intron_variant MELA-AU 10 49919874 49919874 single base substitution G A intron_variant MELA-AU 10 49919875 49919875 single base substitution G A intron_variant MELA-AU 10 49919914 49919914 single base substitution G A intron_variant MELA-AU 10 49919967 49919967 single base substitution C T intron_variant MELA-AU 10 49920119 49920119 single base substitution C T intron_variant MELA-AU 10 49920178 49920178 single base substitution C T intron_variant MELA-AU 10 49920199 49920199 single base substitution C T intron_variant MELA-AU 10 49920271 49920271 single base substitution C T intron_variant MELA-AU 10 49920307 49920307 single base substitution C T intron_variant MELA-AU 10 49920445 49920445 single base substitution C T intron_variant MELA-AU 10 49920446 49920446 single base substitution C T intron_variant MELA-AU 10 49920541 49920541 single base substitution C T intron_variant MELA-AU 10 49920569 49920569 single base substitution C T intron_variant MELA-AU 10 49920648 49920648 single base substitution C T intron_variant MELA-AU 10 49920700 49920700 single base substitution C G intron_variant MELA-AU 10 49920704 49920704 single base substitution G A intron_variant MELA-AU 10 49920735 49920735 single base substitution G A intron_variant MELA-AU 10 49920736 49920736 single base substitution A T intron_variant MELA-AU 10 49920756 49920756 single base substitution G A intron_variant MELA-AU 10 49920765 49920765 single base substitution C T intron_variant MELA-AU 10 49920802 49920802 single base substitution C T intron_variant MELA-AU 10 49920804 49920804 single base substitution G A intron_variant MELA-AU 10 49920852 49920852 single base substitution C T intron_variant MELA-AU 10 49920856 49920856 single base substitution C T intron_variant MELA-AU 10 49920951 49920951 single base substitution C T intron_variant MELA-AU 10 49921002 49921002 single base substitution C T intron_variant MELA-AU 10 49921005 49921005 single base substitution C T intron_variant MELA-AU 10 49921111 49921111 single base substitution G A intron_variant MELA-AU 10 49921629 49921629 single base substitution G A intron_variant MELA-AU 10 49921708 49921708 single base substitution C T intron_variant MELA-AU 10 49921814 49921814 single base substitution G A intron_variant MELA-AU 10 49921824 49921824 single base substitution C T intron_variant MELA-AU 10 49921919 49921919 single base substitution G A intron_variant MELA-AU 10 49922004 49922004 single base substitution G A intron_variant MELA-AU 10 49922020 49922020 single base substitution C T intron_variant MELA-AU 10 49922164 49922164 single base substitution G A intron_variant MELA-AU 10 49922427 49922427 single base substitution G A intron_variant MELA-AU 10 49922563 49922563 single base substitution G A intron_variant MELA-AU 10 49922590 49922590 single base substitution C T intron_variant MELA-AU 10 49922638 49922638 single base substitution G A intron_variant MELA-AU 10 49922662 49922662 single base substitution A T intron_variant MELA-AU 10 49922717 49922717 single base substitution G A intron_variant MELA-AU 10 49922801 49922801 single base substitution C T intron_variant MELA-AU 10 49922891 49922891 single base substitution G A intron_variant MELA-AU 10 49922902 49922902 single base substitution G A intron_variant MELA-AU 10 49922957 49922957 single base substitution C T intron_variant MELA-AU 10 49922974 49922974 single base substitution G A intron_variant MELA-AU 10 49923160 49923160 single base substitution C T intron_variant MELA-AU 10 49923162 49923162 single base substitution T A intron_variant MELA-AU 10 49923193 49923193 single base substitution C T intron_variant MELA-AU 10 49923317 49923317 single base substitution C T intron_variant MELA-AU 10 49923466 49923466 single base substitution G A intron_variant MELA-AU 10 49923769 49923769 single base substitution C T intron_variant MELA-AU 10 49923796 49923796 single base substitution G A intron_variant MELA-AU 10 49923921 49923921 single base substitution C T intron_variant MELA-AU 10 49923990 49923990 single base substitution G A intron_variant MELA-AU 10 49924074 49924075 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 49924081 49924081 single base substitution G A intron_variant MELA-AU 10 49924117 49924118 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 10 49924119 49924119 single base substitution G A intron_variant MELA-AU 10 49924199 49924200 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 49924200 49924200 single base substitution G A intron_variant MELA-AU 10 49924251 49924251 single base substitution C T intron_variant MELA-AU 10 49924293 49924293 single base substitution C T intron_variant MELA-AU 10 49924344 49924344 single base substitution C T intron_variant MELA-AU 10 49924413 49924413 single base substitution C T intron_variant MELA-AU 10 49924560 49924560 single base substitution C T intron_variant MELA-AU 10 49924587 49924587 single base substitution C T intron_variant MELA-AU 10 49924634 49924634 single base substitution C T intron_variant MELA-AU 10 49924683 49924684 multiple base substitution (>=2bp and <=200bp) GG AT intron_variant MELA-AU 10 49924743 49924743 single base substitution C T intron_variant MELA-AU 10 49924768 49924768 single base substitution C T intron_variant MELA-AU 10 49924900 49924900 single base substitution C T intron_variant MELA-AU 10 49925020 49925020 single base substitution C T intron_variant MELA-AU 10 49925273 49925273 single base substitution C T intron_variant MELA-AU 10 49925274 49925274 single base substitution G A intron_variant MELA-AU 10 49925288 49925288 single base substitution C T intron_variant MELA-AU 10 49925584 49925584 single base substitution G A intron_variant MELA-AU 10 49925604 49925604 single base substitution G T intron_variant MELA-AU 10 49925617 49925617 single base substitution C T intron_variant MELA-AU 10 49925758 49925758 single base substitution C T intron_variant MELA-AU 10 49925963 49925963 single base substitution G A intron_variant MELA-AU 10 49926044 49926044 single base substitution G A intron_variant MELA-AU 10 49926067 49926068 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 49926216 49926216 single base substitution C T intron_variant MELA-AU 10 49926326 49926326 single base substitution G C intron_variant MELA-AU 10 49926338 49926338 single base substitution C T intron_variant MELA-AU 10 49926376 49926376 single base substitution C T intron_variant MELA-AU 10 49926482 49926482 single base substitution C T intron_variant MELA-AU 10 49926536 49926536 single base substitution T C intron_variant MELA-AU 10 49926658 49926658 single base substitution G A intron_variant MELA-AU 10 49926761 49926761 single base substitution G A intron_variant MELA-AU 10 49926927 49926927 single base substitution C G intron_variant MELA-AU 10 49926966 49926966 single base substitution G A intron_variant MELA-AU 10 49927051 49927051 single base substitution G T intron_variant MELA-AU 10 49927306 49927306 single base substitution G A intron_variant MELA-AU 10 49927606 49927606 single base substitution G A intron_variant MELA-AU 10 49927673 49927673 single base substitution G A intron_variant MELA-AU 10 49927795 49927795 single base substitution G A intron_variant MELA-AU 10 49927945 49927945 single base substitution G A intron_variant MELA-AU 10 49928075 49928075 single base substitution G A missense_variant G85E 254G>A MELA-AU 10 49928100 49928100 single base substitution A G synonymous_variant Q93Q 279A>G MELA-AU 10 49928157 49928157 single base substitution G A synonymous_variant V112V 336G>A MELA-AU 10 49928249 49928249 single base substitution C T intron_variant MELA-AU 10 49928333 49928333 single base substitution G A intron_variant MELA-AU 10 49928343 49928343 single base substitution G A intron_variant MELA-AU 10 49928928 49928928 single base substitution G A intron_variant MELA-AU 10 49929035 49929035 single base substitution G A intron_variant MELA-AU 10 49929139 49929139 single base substitution G A intron_variant MELA-AU 10 49929223 49929223 single base substitution C T intron_variant MELA-AU 10 49929272 49929272 single base substitution C T intron_variant MELA-AU 10 49929467 49929468 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 49929538 49929538 single base substitution C T intron_variant MELA-AU 10 49929569 49929569 single base substitution G A intron_variant MELA-AU 10 49929588 49929588 single base substitution C T intron_variant MELA-AU 10 49929765 49929765 single base substitution G C intron_variant MELA-AU 10 49929792 49929792 single base substitution C T intron_variant MELA-AU 10 49929849 49929849 single base substitution G A intron_variant MELA-AU 10 49929975 49929975 single base substitution C T intron_variant MELA-AU 10 49930010 49930010 single base substitution C T intron_variant MELA-AU 10 49930230 49930230 single base substitution G A intron_variant MELA-AU 10 49930245 49930245 single base substitution C T intron_variant MELA-AU 10 49930270 49930270 single base substitution C T intron_variant MELA-AU 10 49930354 49930354 single base substitution G A intron_variant MELA-AU 10 49930404 49930404 single base substitution C T intron_variant MELA-AU 10 49930430 49930430 single base substitution G A intron_variant MELA-AU 10 49930527 49930527 single base substitution C T intron_variant MELA-AU 10 49930830 49930830 single base substitution G A intron_variant MELA-AU 10 49930873 49930873 single base substitution C T intron_variant MELA-AU 10 49931441 49931441 single base substitution C T intron_variant MELA-AU 10 49931583 49931583 single base substitution G A missense_variant D188N 562G>A MELA-AU 10 49931620 49931620 single base substitution C T splice_region_variant MELA-AU 10 49931735 49931735 single base substitution C T intron_variant MELA-AU 10 49931779 49931779 single base substitution C T intron_variant MELA-AU 10 49932037 49932037 single base substitution C T intron_variant MELA-AU 10 49932081 49932081 single base substitution C T intron_variant MELA-AU 10 49932215 49932215 single base substitution C T intron_variant MELA-AU 10 49932239 49932239 single base substitution G A intron_variant MELA-AU 10 49932254 49932254 single base substitution C T intron_variant MELA-AU 10 49932516 49932516 single base substitution T C intron_variant MELA-AU 10 49932558 49932558 single base substitution C T intron_variant MELA-AU 10 49932763 49932763 single base substitution G A intron_variant MELA-AU 10 49932787 49932787 single base substitution G A intron_variant MELA-AU 10 49932846 49932846 single base substitution G A intron_variant MELA-AU 10 49932920 49932920 single base substitution T C intron_variant MELA-AU 10 49933031 49933031 single base substitution G A intron_variant MELA-AU 10 49933080 49933080 single base substitution G A intron_variant MELA-AU 10 49933089 49933089 single base substitution G A intron_variant MELA-AU 10 49933136 49933136 single base substitution G A intron_variant MELA-AU 10 49933187 49933187 single base substitution G A intron_variant MELA-AU 10 49933194 49933194 single base substitution G A intron_variant MELA-AU 10 49933214 49933214 single base substitution G A intron_variant MELA-AU 10 49933248 49933248 single base substitution G A intron_variant MELA-AU 10 49933249 49933249 single base substitution G A intron_variant MELA-AU 10 49933278 49933278 single base substitution G A intron_variant MELA-AU 10 49933319 49933319 single base substitution G A intron_variant MELA-AU 10 49933341 49933341 single base substitution G A intron_variant MELA-AU 10 49933342 49933342 single base substitution G A intron_variant MELA-AU 10 49933350 49933350 single base substitution G T intron_variant MELA-AU 10 49933461 49933461 single base substitution G A intron_variant MELA-AU 10 49933637 49933637 single base substitution C T intron_variant MELA-AU 10 49933753 49933753 single base substitution C T intron_variant MELA-AU 10 49933760 49933760 single base substitution G A intron_variant MELA-AU 10 49933809 49933809 single base substitution C T intron_variant MELA-AU 10 49933855 49933855 single base substitution G A intron_variant MELA-AU 10 49934141 49934141 single base substitution G T intron_variant MELA-AU 10 49934457 49934457 single base substitution C T intron_variant MELA-AU 10 49934508 49934508 single base substitution G A intron_variant MELA-AU 10 49934542 49934542 single base substitution C T intron_variant MELA-AU 10 49934641 49934641 single base substitution G A intron_variant MELA-AU 10 49934712 49934712 single base substitution C T intron_variant MELA-AU 10 49934929 49934929 single base substitution G A intron_variant MELA-AU 10 49934974 49934974 single base substitution C T intron_variant MELA-AU 10 49935014 49935014 single base substitution G A intron_variant MELA-AU 10 49935158 49935158 single base substitution T C intron_variant MELA-AU 10 49935221 49935221 single base substitution T A intron_variant MELA-AU 10 49935288 49935288 single base substitution G A intron_variant MELA-AU 10 49935406 49935406 single base substitution C T intron_variant MELA-AU 10 49935450 49935450 single base substitution G A intron_variant MELA-AU 10 49935530 49935531 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant R266K 797GG>AA MELA-AU 10 49935580 49935580 single base substitution G A missense_variant E283K 847G>A MELA-AU 10 49935615 49935615 single base substitution C T synonymous_variant F294F 882C>T MELA-AU 10 49935731 49935731 single base substitution G A intron_variant MELA-AU 10 49935816 49935816 single base substitution G A intron_variant MELA-AU 10 49935946 49935946 single base substitution C T intron_variant MELA-AU 10 49936039 49936039 single base substitution G A intron_variant MELA-AU 10 49936049 49936049 single base substitution G A intron_variant MELA-AU 10 49936268 49936268 single base substitution G A intron_variant MELA-AU 10 49936284 49936284 single base substitution G A intron_variant MELA-AU 10 49936315 49936315 single base substitution G A intron_variant MELA-AU 10 49936317 49936317 single base substitution G A intron_variant MELA-AU 10 49936370 49936370 single base substitution C T intron_variant MELA-AU 10 49936388 49936388 single base substitution C T intron_variant MELA-AU 10 49936394 49936394 single base substitution C T intron_variant MELA-AU 10 49936479 49936479 single base substitution G A intron_variant MELA-AU 10 49936669 49936669 single base substitution G A intron_variant MELA-AU 10 49936744 49936744 single base substitution C T intron_variant MELA-AU 10 49936793 49936793 single base substitution G A intron_variant MELA-AU 10 49936833 49936833 single base substitution C T intron_variant MELA-AU 10 49936939 49936939 single base substitution C T intron_variant MELA-AU 10 49936977 49936977 single base substitution C T intron_variant MELA-AU 10 49936986 49936986 single base substitution A T intron_variant MELA-AU 10 49937019 49937019 single base substitution T G intron_variant MELA-AU 10 49937099 49937099 single base substitution G A intron_variant MELA-AU 10 49937160 49937160 single base substitution C T intron_variant MELA-AU 10 49937169 49937169 single base substitution G A intron_variant MELA-AU 10 49937233 49937233 single base substitution C T intron_variant MELA-AU 10 49937317 49937317 single base substitution C T intron_variant MELA-AU 10 49937375 49937375 single base substitution G A intron_variant MELA-AU 10 49937400 49937400 single base substitution C T intron_variant MELA-AU 10 49937403 49937403 single base substitution C T intron_variant MELA-AU 10 49937470 49937470 single base substitution C T splice_region_variant MELA-AU 10 49937499 49937499 single base substitution G A missense_variant E332K 994G>A MELA-AU 10 49937619 49937619 single base substitution C T missense_variant H372Y 1114C>T MELA-AU 10 49937747 49937747 single base substitution G A intron_variant MELA-AU 10 49937810 49937810 single base substitution T C intron_variant MELA-AU 10 49937908 49937908 single base substitution G T intron_variant MELA-AU 10 49937910 49937910 single base substitution G A intron_variant MELA-AU 10 49937920 49937920 single base substitution C T intron_variant MELA-AU 10 49938084 49938084 single base substitution C T intron_variant MELA-AU 10 49938127 49938127 single base substitution G A intron_variant MELA-AU 10 49938149 49938149 single base substitution C T intron_variant MELA-AU 10 49938178 49938178 single base substitution G A intron_variant MELA-AU 10 49938194 49938194 single base substitution G A intron_variant MELA-AU 10 49938251 49938251 single base substitution G A intron_variant MELA-AU 10 49938267 49938267 single base substitution A T intron_variant MELA-AU 10 49938373 49938373 single base substitution C T intron_variant MELA-AU 10 49938509 49938509 single base substitution T C intron_variant MELA-AU 10 49938532 49938532 single base substitution G A intron_variant MELA-AU 10 49938729 49938729 single base substitution C T intron_variant MELA-AU 10 49938880 49938880 single base substitution C T intron_variant MELA-AU 10 49939067 49939067 single base substitution T G intron_variant MELA-AU 10 49939317 49939317 single base substitution C T missense_variant S431L 1292C>T MELA-AU 10 49939361 49939361 single base substitution G A missense_variant E446K 1336G>A MELA-AU 10 49939396 49939396 single base substitution C T synonymous_variant F457F 1371C>T MELA-AU 10 49939451 49939451 single base substitution G A missense_variant E476K 1426G>A MELA-AU 10 49939511 49939511 single base substitution G A missense_variant G496R 1486G>A MELA-AU 10 49939513 49939513 single base substitution G A synonymous_variant G496G 1488G>A MELA-AU 10 49939582 49939582 single base substitution G A synonymous_variant K519K 1557G>A MELA-AU 10 49939600 49939600 single base substitution G A synonymous_variant R525R 1575G>A MELA-AU 10 49939631 49939631 single base substitution G A intron_variant MELA-AU 10 49939683 49939684 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 49939832 49939832 single base substitution G A intron_variant MELA-AU 10 49939888 49939888 single base substitution G A intron_variant MELA-AU 10 49939909 49939909 single base substitution G A intron_variant MELA-AU 10 49939956 49939956 single base substitution C T intron_variant MELA-AU 10 49939971 49939971 single base substitution G A intron_variant MELA-AU 10 49940057 49940057 single base substitution G A intron_variant MELA-AU 10 49940073 49940073 single base substitution C T intron_variant MELA-AU 10 49940126 49940126 single base substitution C T intron_variant MELA-AU 10 49940197 49940197 single base substitution G A intron_variant MELA-AU 10 49940269 49940269 single base substitution C T intron_variant MELA-AU 10 49940329 49940329 single base substitution G A intron_variant MELA-AU 10 49940407 49940407 single base substitution C T intron_variant MELA-AU 10 49940464 49940465 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 49940479 49940479 single base substitution C T intron_variant MELA-AU 10 49940574 49940574 single base substitution C G intron_variant MELA-AU 10 49940585 49940585 single base substitution C T intron_variant MELA-AU 10 49940678 49940678 single base substitution G A intron_variant MELA-AU 10 49940750 49940750 single base substitution G A intron_variant MELA-AU 10 49940821 49940821 single base substitution C T intron_variant MELA-AU 10 49940872 49940872 single base substitution G A intron_variant MELA-AU 10 49940907 49940907 single base substitution C T intron_variant MELA-AU 10 49940913 49940913 single base substitution C T intron_variant MELA-AU 10 49941054 49941054 single base substitution C T intron_variant MELA-AU 10 49941088 49941088 single base substitution C T intron_variant MELA-AU 10 49941231 49941231 single base substitution G A intron_variant MELA-AU 10 49941516 49941516 single base substitution G A intron_variant MELA-AU 10 49941576 49941576 single base substitution G A intron_variant MELA-AU 10 49941700 49941700 single base substitution C T intron_variant MELA-AU 10 49941770 49941770 single base substitution C T intron_variant MELA-AU 10 49941776 49941776 single base substitution G A intron_variant MELA-AU 10 49941778 49941778 single base substitution G A intron_variant MELA-AU 10 49941888 49941888 single base substitution C T intron_variant MELA-AU 10 49941993 49941993 single base substitution C T missense_variant P534S 1600C>T MELA-AU 10 49942031 49942031 single base substitution G A synonymous_variant V546V 1638G>A MELA-AU 10 49942173 49942173 single base substitution G A intron_variant MELA-AU 10 49942211 49942211 single base substitution C T intron_variant MELA-AU 10 49942330 49942330 single base substitution A T intron_variant MELA-AU 10 49942345 49942345 single base substitution T G intron_variant MELA-AU 10 49942371 49942371 single base substitution C T intron_variant MELA-AU 10 49942448 49942448 single base substitution T C intron_variant MELA-AU 10 49942682 49942682 single base substitution A T intron_variant MELA-AU 10 49942740 49942740 single base substitution C T intron_variant MELA-AU 10 49942832 49942832 single base substitution T A intron_variant MELA-AU 10 49942846 49942846 single base substitution G A intron_variant MELA-AU 10 49942855 49942855 single base substitution T A intron_variant MELA-AU 10 49942884 49942884 single base substitution G A intron_variant MELA-AU 10 49943138 49943138 single base substitution G A intron_variant MELA-AU 10 49943233 49943233 single base substitution C T intron_variant MELA-AU 10 49943243 49943243 single base substitution G A intron_variant MELA-AU 10 49943270 49943270 single base substitution C T intron_variant MELA-AU 10 49943294 49943294 single base substitution C T intron_variant MELA-AU 10 49943351 49943351 single base substitution T A intron_variant MELA-AU 10 49943471 49943471 single base substitution G A intron_variant MELA-AU 10 49943483 49943483 single base substitution G T intron_variant MELA-AU 10 49943485 49943485 single base substitution G A intron_variant MELA-AU 10 49943721 49943721 single base substitution A T intron_variant MELA-AU 10 49943728 49943728 single base substitution G A intron_variant MELA-AU 10 49943769 49943769 single base substitution G A intron_variant MELA-AU 10 49943980 49943980 single base substitution G A synonymous_variant E581E 1743G>A MELA-AU 10 49944129 49944129 single base substitution C T intron_variant MELA-AU 10 49944129 49944129 single base substitution C T missense_variant P631L 1892C>T MELA-AU 10 49944205 49944205 single base substitution C T 3_prime_UTR_variant MELA-AU 10 49944205 49944205 single base substitution C T intron_variant MELA-AU 10 49944275 49944275 single base substitution C T 3_prime_UTR_variant MELA-AU 10 49944275 49944275 single base substitution C T intron_variant MELA-AU 10 49944305 49944305 single base substitution T C downstream_gene_variant MELA-AU 10 49944305 49944305 single base substitution T C intron_variant MELA-AU 10 49944377 49944377 single base substitution A G downstream_gene_variant MELA-AU 10 49944377 49944377 single base substitution A G intron_variant MELA-AU 10 49944431 49944431 single base substitution C T downstream_gene_variant MELA-AU 10 49944431 49944431 single base substitution C T intron_variant MELA-AU 10 49944456 49944456 single base substitution T C downstream_gene_variant MELA-AU 10 49944456 49944456 single base substitution T C intron_variant MELA-AU 10 49944475 49944475 single base substitution C T downstream_gene_variant MELA-AU 10 49944475 49944475 single base substitution C T intron_variant MELA-AU 10 49944534 49944534 single base substitution C T downstream_gene_variant MELA-AU 10 49944534 49944534 single base substitution C T intron_variant MELA-AU 10 49944643 49944643 single base substitution C T downstream_gene_variant MELA-AU 10 49944643 49944643 single base substitution C T intron_variant MELA-AU 10 49944702 49944702 single base substitution C T downstream_gene_variant MELA-AU 10 49944702 49944702 single base substitution C T intron_variant MELA-AU 10 49944710 49944710 single base substitution C T downstream_gene_variant MELA-AU 10 49944710 49944710 single base substitution C T intron_variant MELA-AU 10 49944864 49944864 single base substitution G A downstream_gene_variant MELA-AU 10 49944864 49944864 single base substitution G A intron_variant MELA-AU 10 49944953 49944953 single base substitution C T downstream_gene_variant MELA-AU 10 49944953 49944953 single base substitution C T intron_variant MELA-AU 10 49945197 49945197 single base substitution G A downstream_gene_variant MELA-AU 10 49945197 49945197 single base substitution G A intron_variant MELA-AU 10 49945283 49945283 single base substitution G A downstream_gene_variant MELA-AU 10 49945283 49945283 single base substitution G A intron_variant MELA-AU 10 49945525 49945525 single base substitution T G downstream_gene_variant MELA-AU 10 49945525 49945525 single base substitution T G intron_variant MELA-AU 10 49945547 49945547 single base substitution C T downstream_gene_variant MELA-AU 10 49945547 49945547 single base substitution C T intron_variant MELA-AU 10 49945738 49945738 single base substitution G A downstream_gene_variant MELA-AU 10 49945738 49945738 single base substitution G A intron_variant MELA-AU 10 49945758 49945758 single base substitution A G downstream_gene_variant MELA-AU 10 49945758 49945758 single base substitution A G intron_variant MELA-AU 10 49945785 49945785 single base substitution C T downstream_gene_variant MELA-AU 10 49945785 49945785 single base substitution C T intron_variant MELA-AU 10 49945789 49945789 single base substitution G A downstream_gene_variant MELA-AU 10 49945789 49945789 single base substitution G A intron_variant MELA-AU 10 49945806 49945806 single base substitution G A downstream_gene_variant MELA-AU 10 49945806 49945806 single base substitution G A intron_variant MELA-AU 10 49945866 49945866 single base substitution G A downstream_gene_variant MELA-AU 10 49945866 49945866 single base substitution G A intron_variant MELA-AU 10 49945883 49945883 single base substitution G A downstream_gene_variant MELA-AU 10 49945883 49945883 single base substitution G A intron_variant MELA-AU 10 49945898 49945898 single base substitution C T downstream_gene_variant MELA-AU 10 49945898 49945898 single base substitution C T intron_variant MELA-AU 10 49946036 49946036 single base substitution C T downstream_gene_variant MELA-AU 10 49946036 49946036 single base substitution C T intron_variant MELA-AU 10 49946064 49946064 single base substitution C T downstream_gene_variant MELA-AU 10 49946064 49946064 single base substitution C T intron_variant MELA-AU 10 49946068 49946068 single base substitution C T downstream_gene_variant MELA-AU 10 49946068 49946068 single base substitution C T intron_variant MELA-AU 10 49946112 49946112 single base substitution G A downstream_gene_variant MELA-AU 10 49946112 49946112 single base substitution G A intron_variant MELA-AU 10 49946297 49946297 single base substitution G A downstream_gene_variant MELA-AU 10 49946297 49946297 single base substitution G A intron_variant MELA-AU 10 49946355 49946355 single base substitution G A downstream_gene_variant MELA-AU 10 49946355 49946355 single base substitution G A intron_variant MELA-AU 10 49946362 49946362 single base substitution A G downstream_gene_variant MELA-AU 10 49946362 49946362 single base substitution A G intron_variant MELA-AU 10 49946459 49946459 single base substitution G A downstream_gene_variant MELA-AU 10 49946459 49946459 single base substitution G A intron_variant MELA-AU 10 49946521 49946521 single base substitution C T downstream_gene_variant MELA-AU 10 49946521 49946521 single base substitution C T intron_variant MELA-AU 10 49946628 49946628 single base substitution G A downstream_gene_variant MELA-AU 10 49946628 49946628 single base substitution G A intron_variant MELA-AU 10 49946644 49946644 single base substitution C T downstream_gene_variant MELA-AU 10 49946644 49946644 single base substitution C T intron_variant MELA-AU 10 49946650 49946650 single base substitution C T downstream_gene_variant MELA-AU 10 49946650 49946650 single base substitution C T intron_variant MELA-AU 10 49946687 49946687 single base substitution G A downstream_gene_variant MELA-AU 10 49946687 49946687 single base substitution G A intron_variant MELA-AU 10 49946822 49946822 single base substitution G A downstream_gene_variant MELA-AU 10 49946822 49946822 single base substitution G A intron_variant MELA-AU 10 49946851 49946851 single base substitution G A downstream_gene_variant MELA-AU 10 49946851 49946851 single base substitution G A intron_variant MELA-AU 10 49946929 49946929 single base substitution C T downstream_gene_variant MELA-AU 10 49946929 49946929 single base substitution C T intron_variant MELA-AU 10 49947070 49947070 single base substitution A T downstream_gene_variant MELA-AU 10 49947070 49947070 single base substitution A T intron_variant MELA-AU 10 49947082 49947082 single base substitution G A downstream_gene_variant MELA-AU 10 49947082 49947082 single base substitution G A intron_variant MELA-AU 10 49947094 49947094 single base substitution C T downstream_gene_variant MELA-AU 10 49947094 49947094 single base substitution C T intron_variant MELA-AU 10 49947105 49947105 single base substitution G A downstream_gene_variant MELA-AU 10 49947105 49947105 single base substitution G A intron_variant MELA-AU 10 49947214 49947214 single base substitution G A downstream_gene_variant MELA-AU 10 49947214 49947214 single base substitution G A intron_variant MELA-AU 10 49947214 49947215 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 10 49947214 49947215 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 49947297 49947297 single base substitution C T downstream_gene_variant MELA-AU 10 49947297 49947297 single base substitution C T intron_variant MELA-AU 10 49947394 49947394 single base substitution G A downstream_gene_variant MELA-AU 10 49947394 49947394 single base substitution G A intron_variant MELA-AU 10 49947550 49947550 single base substitution C T downstream_gene_variant MELA-AU 10 49947550 49947550 single base substitution C T intron_variant MELA-AU 10 49947631 49947631 single base substitution G A downstream_gene_variant MELA-AU 10 49947631 49947631 single base substitution G A intron_variant MELA-AU 10 49947681 49947681 single base substitution C T downstream_gene_variant MELA-AU 10 49947681 49947681 single base substitution C T intron_variant MELA-AU 10 49947683 49947683 single base substitution C T downstream_gene_variant MELA-AU 10 49947683 49947683 single base substitution C T intron_variant MELA-AU 10 49947791 49947791 single base substitution C T downstream_gene_variant MELA-AU 10 49947791 49947791 single base substitution C T intron_variant MELA-AU 10 49947871 49947871 single base substitution C T downstream_gene_variant MELA-AU 10 49947871 49947871 single base substitution C T intron_variant MELA-AU 10 49947885 49947885 single base substitution T A downstream_gene_variant MELA-AU 10 49947885 49947885 single base substitution T A intron_variant MELA-AU 10 49947971 49947971 single base substitution G A downstream_gene_variant MELA-AU 10 49947971 49947971 single base substitution G A intron_variant MELA-AU 10 49948101 49948101 single base substitution T C downstream_gene_variant MELA-AU 10 49948101 49948101 single base substitution T C intron_variant MELA-AU 10 49948124 49948124 single base substitution A G downstream_gene_variant MELA-AU 10 49948124 49948124 single base substitution A G intron_variant MELA-AU 10 49948134 49948134 single base substitution C T downstream_gene_variant MELA-AU 10 49948134 49948134 single base substitution C T intron_variant MELA-AU 10 49948231 49948231 single base substitution C T downstream_gene_variant MELA-AU 10 49948231 49948231 single base substitution C T intron_variant MELA-AU 10 49948232 49948232 single base substitution C T downstream_gene_variant MELA-AU 10 49948232 49948232 single base substitution C T intron_variant MELA-AU 10 49948284 49948284 single base substitution C T downstream_gene_variant MELA-AU 10 49948284 49948284 single base substitution C T intron_variant MELA-AU 10 49948340 49948340 single base substitution C T downstream_gene_variant MELA-AU 10 49948340 49948340 single base substitution C T intron_variant MELA-AU 10 49948413 49948413 single base substitution A T downstream_gene_variant MELA-AU 10 49948413 49948413 single base substitution A T intron_variant MELA-AU 10 49948483 49948483 single base substitution C T downstream_gene_variant MELA-AU 10 49948483 49948483 single base substitution C T intron_variant MELA-AU 10 49948674 49948674 single base substitution C T downstream_gene_variant MELA-AU 10 49948674 49948674 single base substitution C T intron_variant MELA-AU 10 49948792 49948792 single base substitution C T downstream_gene_variant MELA-AU 10 49948792 49948792 single base substitution C T intron_variant MELA-AU 10 49948875 49948875 single base substitution C T downstream_gene_variant MELA-AU 10 49948875 49948875 single base substitution C T intron_variant MELA-AU 10 49948962 49948962 single base substitution G A downstream_gene_variant MELA-AU 10 49948962 49948962 single base substitution G A intron_variant MELA-AU 10 49949157 49949157 single base substitution C T downstream_gene_variant MELA-AU 10 49949157 49949157 single base substitution C T intron_variant MELA-AU 10 49949312 49949312 single base substitution G A intron_variant MELA-AU 10 49949406 49949406 single base substitution G A intron_variant MELA-AU 10 49949417 49949417 single base substitution G A intron_variant MELA-AU 10 49949431 49949431 single base substitution G A intron_variant MELA-AU 10 49949491 49949491 single base substitution C T intron_variant MELA-AU 10 49949668 49949668 single base substitution C T intron_variant MELA-AU 10 49949739 49949739 single base substitution G A intron_variant MELA-AU 10 49949859 49949859 single base substitution G A intron_variant MELA-AU 10 49950031 49950031 single base substitution C T intron_variant MELA-AU 10 49950050 49950050 single base substitution G A intron_variant MELA-AU 10 49950108 49950108 single base substitution C T intron_variant MELA-AU 10 49950163 49950163 single base substitution G A intron_variant MELA-AU 10 49950242 49950242 single base substitution G A intron_variant MELA-AU 10 49950462 49950462 single base substitution G A intron_variant MELA-AU 10 49950682 49950682 single base substitution G A intron_variant MELA-AU 10 49950695 49950695 single base substitution G A intron_variant MELA-AU 10 49950716 49950716 single base substitution G A intron_variant MELA-AU 10 49950732 49950732 single base substitution G A intron_variant MELA-AU 10 49950749 49950749 single base substitution C T intron_variant MELA-AU 10 49950753 49950753 single base substitution C T intron_variant MELA-AU 10 49950760 49950760 single base substitution G A intron_variant MELA-AU 10 49950865 49950865 single base substitution C T intron_variant MELA-AU 10 49950883 49950883 single base substitution C T intron_variant MELA-AU 10 49950923 49950923 single base substitution G A intron_variant MELA-AU 10 49950975 49950975 single base substitution C T intron_variant MELA-AU 10 49951082 49951082 single base substitution C T synonymous_variant L650L 1948C>T MELA-AU 10 49951091 49951091 single base substitution C T synonymous_variant L653L 1957C>T MELA-AU 10 49951364 49951364 single base substitution G A missense_variant D744N 2230G>A MELA-AU 10 49951411 49951411 single base substitution G A synonymous_variant R759R 2277G>A MELA-AU 10 49951464 49951464 single base substitution C T missense_variant T777I 2330C>T MELA-AU 10 49951510 49951510 single base substitution G A synonymous_variant Q792Q 2376G>A MELA-AU 10 49951535 49951535 single base substitution G A missense_variant G801R 2401G>A MELA-AU 10 49951691 49951691 single base substitution G A intron_variant MELA-AU 10 49951779 49951779 single base substitution G A intron_variant MELA-AU 10 49951897 49951897 single base substitution G A intron_variant MELA-AU 10 49952111 49952111 single base substitution C T intron_variant MELA-AU 10 49952233 49952233 single base substitution G A intron_variant MELA-AU 10 49952563 49952563 single base substitution G A intron_variant MELA-AU 10 49952609 49952609 single base substitution C T intron_variant MELA-AU 10 49952622 49952622 single base substitution C T intron_variant MELA-AU 10 49953014 49953014 single base substitution C T intron_variant MELA-AU 10 49953045 49953045 single base substitution C T intron_variant MELA-AU 10 49953052 49953052 single base substitution C T intron_variant MELA-AU 10 49953077 49953077 single base substitution C T intron_variant MELA-AU 10 49953216 49953216 single base substitution C T intron_variant MELA-AU 10 49953347 49953347 single base substitution C T intron_variant MELA-AU 10 49953365 49953365 single base substitution G A intron_variant MELA-AU 10 49953427 49953427 single base substitution A T intron_variant MELA-AU 10 49953449 49953449 single base substitution G A intron_variant MELA-AU 10 49953479 49953479 single base substitution G A intron_variant MELA-AU 10 49953485 49953485 single base substitution G A intron_variant MELA-AU 10 49953518 49953518 deletion of <=200bp A - intron_variant MELA-AU 10 49953525 49953525 single base substitution A T intron_variant MELA-AU 10 49953585 49953585 single base substitution G A intron_variant MELA-AU 10 49953746 49953746 single base substitution C T intron_variant MELA-AU 10 49953825 49953825 single base substitution G A intron_variant MELA-AU 10 49953866 49953867 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 49953963 49953963 single base substitution G A intron_variant MELA-AU 10 49954019 49954019 single base substitution G A intron_variant MELA-AU 10 49954275 49954275 single base substitution C T intron_variant MELA-AU 10 49954421 49954421 single base substitution C T intron_variant MELA-AU 10 49954456 49954456 single base substitution C T intron_variant MELA-AU 10 49954457 49954457 single base substitution C T intron_variant MELA-AU 10 49954665 49954665 single base substitution C T intron_variant MELA-AU 10 49954737 49954737 single base substitution G A intron_variant MELA-AU 10 49954754 49954754 single base substitution T A intron_variant MELA-AU 10 49954755 49954755 single base substitution G A intron_variant MELA-AU 10 49954829 49954830 multiple base substitution (>=2bp and <=200bp) CC TA intron_variant MELA-AU 10 49954875 49954875 single base substitution C T intron_variant MELA-AU 10 49954922 49954922 single base substitution C T intron_variant MELA-AU 10 49954929 49954929 single base substitution G A intron_variant MELA-AU 10 49955048 49955048 single base substitution G A intron_variant MELA-AU 10 49955111 49955111 single base substitution G A intron_variant MELA-AU 10 49955160 49955160 single base substitution C T intron_variant MELA-AU 10 49955177 49955177 single base substitution G A intron_variant MELA-AU 10 49955289 49955289 single base substitution C T intron_variant MELA-AU 10 49955336 49955336 single base substitution C T intron_variant MELA-AU 10 49955343 49955343 single base substitution C T intron_variant MELA-AU 10 49955441 49955441 single base substitution C T intron_variant MELA-AU 10 49955453 49955453 single base substitution A G intron_variant MELA-AU 10 49955492 49955492 single base substitution C T intron_variant MELA-AU 10 49955625 49955625 single base substitution T G intron_variant MELA-AU 10 49955778 49955778 single base substitution C T intron_variant MELA-AU 10 49955930 49955930 single base substitution C T intron_variant MELA-AU 10 49955945 49955945 single base substitution C T intron_variant MELA-AU 10 49956002 49956002 single base substitution C T intron_variant MELA-AU 10 49956077 49956077 single base substitution G A intron_variant MELA-AU 10 49956132 49956132 single base substitution G A intron_variant MELA-AU 10 49956230 49956230 single base substitution G A intron_variant MELA-AU 10 49956246 49956246 single base substitution G A intron_variant MELA-AU 10 49956388 49956388 single base substitution G A intron_variant MELA-AU 10 49956395 49956395 single base substitution G A intron_variant MELA-AU 10 49956439 49956439 single base substitution G A intron_variant MELA-AU 10 49956674 49956674 single base substitution G A intron_variant MELA-AU 10 49956771 49956771 single base substitution C T intron_variant MELA-AU 10 49956878 49956878 single base substitution C T intron_variant MELA-AU 10 49956916 49956916 single base substitution C A intron_variant MELA-AU 10 49956962 49956962 single base substitution G A intron_variant MELA-AU 10 49956977 49956977 single base substitution G A intron_variant MELA-AU 10 49957179 49957179 single base substitution G A intron_variant MELA-AU 10 49957366 49957366 single base substitution C T intron_variant MELA-AU 10 49957667 49957667 single base substitution G A intron_variant MELA-AU 10 49957781 49957781 single base substitution C A intron_variant MELA-AU 10 49957819 49957819 single base substitution T C intron_variant MELA-AU 10 49957930 49957930 single base substitution C T intron_variant MELA-AU 10 49958018 49958018 single base substitution C T intron_variant MELA-AU 10 49958057 49958057 single base substitution C T intron_variant MELA-AU 10 49958145 49958145 single base substitution G A intron_variant MELA-AU 10 49958162 49958162 single base substitution C T intron_variant MELA-AU 10 49958269 49958269 single base substitution T C intron_variant MELA-AU 10 49958281 49958281 single base substitution C T intron_variant MELA-AU 10 49958333 49958333 single base substitution C T intron_variant MELA-AU 10 49958357 49958357 single base substitution C T intron_variant MELA-AU 10 49958366 49958366 single base substitution C T intron_variant MELA-AU 10 49958371 49958371 single base substitution G A intron_variant MELA-AU 10 49958594 49958594 single base substitution C T intron_variant MELA-AU 10 49958595 49958595 single base substitution C T intron_variant MELA-AU 10 49958635 49958635 single base substitution C T intron_variant MELA-AU 10 49958792 49958792 single base substitution G A intron_variant MELA-AU 10 49958801 49958801 single base substitution C T intron_variant MELA-AU 10 49958845 49958845 single base substitution C T intron_variant MELA-AU 10 49958864 49958864 single base substitution G A intron_variant MELA-AU 10 49958905 49958905 single base substitution C T intron_variant MELA-AU 10 49959010 49959010 single base substitution G A intron_variant MELA-AU 10 49959086 49959086 single base substitution T C intron_variant MELA-AU 10 49959118 49959118 single base substitution C T intron_variant MELA-AU 10 49959162 49959163 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 49959163 49959163 single base substitution G A intron_variant MELA-AU 10 49959172 49959172 single base substitution C T intron_variant MELA-AU 10 49959173 49959173 single base substitution C T intron_variant MELA-AU 10 49959183 49959183 single base substitution G A intron_variant MELA-AU 10 49959185 49959185 single base substitution G A intron_variant MELA-AU 10 49959250 49959250 single base substitution G A intron_variant MELA-AU 10 49959278 49959278 single base substitution G A intron_variant MELA-AU 10 49959309 49959309 single base substitution G A intron_variant MELA-AU 10 49959346 49959346 single base substitution A T intron_variant MELA-AU 10 49959485 49959485 single base substitution A G intron_variant MELA-AU 10 49959706 49959706 single base substitution T G intron_variant MELA-AU 10 49959807 49959807 single base substitution G A intron_variant MELA-AU 10 49960097 49960097 single base substitution T A intron_variant MELA-AU 10 49960155 49960155 single base substitution C T intron_variant MELA-AU 10 49960182 49960182 single base substitution C T intron_variant MELA-AU 10 49960205 49960205 single base substitution A G intron_variant MELA-AU 10 49960219 49960219 single base substitution C T intron_variant MELA-AU 10 49960645 49960645 single base substitution G A intron_variant MELA-AU 10 49960788 49960788 single base substitution C T intron_variant MELA-AU 10 49960850 49960850 single base substitution C T intron_variant MELA-AU 10 49960905 49960905 single base substitution G A intron_variant MELA-AU 10 49961049 49961049 single base substitution C T intron_variant MELA-AU 10 49961081 49961081 single base substitution C T intron_variant MELA-AU 10 49961082 49961082 single base substitution C T intron_variant MELA-AU 10 49961167 49961167 single base substitution A G intron_variant MELA-AU 10 49961207 49961207 single base substitution C T intron_variant MELA-AU 10 49961214 49961214 single base substitution G A intron_variant MELA-AU 10 49961215 49961215 single base substitution G A intron_variant MELA-AU 10 49961390 49961390 single base substitution T C intron_variant MELA-AU 10 49961408 49961408 single base substitution C T intron_variant MELA-AU 10 49961665 49961665 single base substitution C T intron_variant MELA-AU 10 49961700 49961700 single base substitution C T intron_variant MELA-AU 10 49961731 49961731 single base substitution G A intron_variant MELA-AU 10 49961742 49961742 single base substitution C T intron_variant MELA-AU 10 49961800 49961800 single base substitution G A intron_variant MELA-AU 10 49961822 49961822 single base substitution C T intron_variant MELA-AU 10 49962508 49962508 single base substitution C T intron_variant MELA-AU 10 49962621 49962621 single base substitution T C intron_variant MELA-AU 10 49962622 49962622 single base substitution G A intron_variant MELA-AU 10 49962691 49962691 single base substitution C T intron_variant MELA-AU 10 49962932 49962932 single base substitution G A intron_variant MELA-AU 10 49963008 49963008 single base substitution C T intron_variant MELA-AU 10 49963027 49963027 single base substitution C T intron_variant MELA-AU 10 49963247 49963247 single base substitution C T intron_variant MELA-AU 10 49963334 49963334 single base substitution G A intron_variant MELA-AU 10 49963512 49963512 single base substitution C T intron_variant MELA-AU 10 49963531 49963531 single base substitution G A intron_variant MELA-AU 10 49963674 49963674 single base substitution C T intron_variant MELA-AU 10 49963689 49963689 single base substitution T C intron_variant MELA-AU 10 49963883 49963883 single base substitution G A intron_variant MELA-AU 10 49963884 49963884 single base substitution C T intron_variant MELA-AU 10 49963901 49963901 single base substitution C T intron_variant MELA-AU 10 49963969 49963969 single base substitution G A intron_variant MELA-AU 10 49964049 49964049 single base substitution G A intron_variant MELA-AU 10 49964084 49964084 single base substitution G A intron_variant MELA-AU 10 49964162 49964162 single base substitution G A intron_variant MELA-AU 10 49964193 49964193 single base substitution C T intron_variant MELA-AU 10 49964263 49964263 single base substitution T C intron_variant MELA-AU 10 49964325 49964325 single base substitution C T intron_variant MELA-AU 10 49964466 49964466 single base substitution C T intron_variant MELA-AU 10 49964525 49964525 single base substitution C T intron_variant MELA-AU 10 49964530 49964530 single base substitution C T intron_variant MELA-AU 10 49964536 49964536 single base substitution C T intron_variant MELA-AU 10 49964597 49964597 single base substitution G A intron_variant MELA-AU 10 49964643 49964643 single base substitution G A intron_variant MELA-AU 10 49964783 49964783 single base substitution G A intron_variant MELA-AU 10 49964796 49964796 single base substitution G A intron_variant MELA-AU 10 49964917 49964917 single base substitution C T intron_variant MELA-AU 10 49964930 49964930 single base substitution G A intron_variant MELA-AU 10 49964978 49964978 single base substitution A T intron_variant MELA-AU 10 49964997 49964997 single base substitution G A intron_variant MELA-AU 10 49965030 49965030 single base substitution G A intron_variant MELA-AU 10 49965147 49965147 single base substitution T G intron_variant MELA-AU 10 49965215 49965215 single base substitution G A intron_variant MELA-AU 10 49965224 49965224 single base substitution C T intron_variant MELA-AU 10 49965267 49965268 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 49965275 49965275 single base substitution G C intron_variant MELA-AU 10 49965304 49965304 single base substitution C T intron_variant MELA-AU 10 49965313 49965313 single base substitution C T intron_variant MELA-AU 10 49965334 49965334 single base substitution C T intron_variant MELA-AU 10 49965458 49965458 single base substitution C T intron_variant MELA-AU 10 49965464 49965464 single base substitution T G intron_variant MELA-AU 10 49965521 49965521 single base substitution C T intron_variant MELA-AU 10 49965663 49965663 single base substitution G A intron_variant MELA-AU 10 49965781 49965781 single base substitution G A intron_variant MELA-AU 10 49965875 49965875 single base substitution G A intron_variant MELA-AU 10 49965876 49965876 single base substitution A G intron_variant MELA-AU 10 49966073 49966073 single base substitution C T intron_variant MELA-AU 10 49966204 49966204 single base substitution G A intron_variant MELA-AU 10 49966262 49966262 single base substitution T C intron_variant MELA-AU 10 49966318 49966318 single base substitution C T intron_variant MELA-AU 10 49966468 49966468 single base substitution C T intron_variant MELA-AU 10 49966487 49966487 single base substitution A G intron_variant MELA-AU 10 49966553 49966553 single base substitution A T intron_variant MELA-AU 10 49966651 49966651 single base substitution C T intron_variant MELA-AU 10 49966697 49966697 single base substitution C T intron_variant MELA-AU 10 49966700 49966700 single base substitution C T intron_variant MELA-AU 10 49966716 49966716 single base substitution C T intron_variant MELA-AU 10 49966741 49966741 single base substitution C T intron_variant MELA-AU 10 49966816 49966816 single base substitution G A intron_variant MELA-AU 10 49966820 49966820 single base substitution C T intron_variant MELA-AU 10 49966832 49966832 single base substitution C T intron_variant MELA-AU 10 49966841 49966841 single base substitution G A intron_variant MELA-AU 10 49966984 49966984 single base substitution C T intron_variant MELA-AU 10 49967082 49967083 deletion of <=200bp AT - intron_variant MELA-AU 10 49967200 49967200 single base substitution G A intron_variant MELA-AU 10 49967301 49967301 single base substitution G A intron_variant MELA-AU 10 49967364 49967364 single base substitution C T intron_variant MELA-AU 10 49967383 49967383 single base substitution C T intron_variant MELA-AU 10 49967439 49967439 single base substitution C T intron_variant MELA-AU 10 49967480 49967480 single base substitution G A intron_variant MELA-AU 10 49967503 49967503 single base substitution G A intron_variant MELA-AU 10 49967615 49967615 single base substitution G A intron_variant MELA-AU 10 49967675 49967675 single base substitution G A intron_variant MELA-AU 10 49967676 49967676 single base substitution G A intron_variant MELA-AU 10 49967681 49967681 single base substitution C T intron_variant MELA-AU 10 49967702 49967702 single base substitution A G intron_variant MELA-AU 10 49967706 49967706 single base substitution C T intron_variant MELA-AU 10 49967707 49967707 single base substitution C T intron_variant MELA-AU 10 49967809 49967809 single base substitution G T intron_variant MELA-AU 10 49967883 49967883 single base substitution C T intron_variant MELA-AU 10 49968003 49968003 single base substitution G A intron_variant MELA-AU 10 49968096 49968096 single base substitution G A intron_variant MELA-AU 10 49968105 49968105 single base substitution G A intron_variant MELA-AU 10 49968117 49968117 single base substitution G A intron_variant MELA-AU 10 49968219 49968219 single base substitution G C intron_variant MELA-AU 10 49968235 49968236 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 49968236 49968236 single base substitution G A intron_variant MELA-AU 10 49968568 49968568 single base substitution C T intron_variant MELA-AU 10 49968628 49968628 single base substitution G A intron_variant MELA-AU 10 49968667 49968667 single base substitution T C intron_variant MELA-AU 10 49968677 49968677 single base substitution C T intron_variant MELA-AU 10 49968718 49968719 multiple base substitution (>=2bp and <=200bp) CT GC intron_variant MELA-AU 10 49968832 49968833 multiple base substitution (>=2bp and <=200bp) CC GT intron_variant MELA-AU 10 49968949 49968949 single base substitution G A intron_variant MELA-AU 10 49968997 49968997 single base substitution C T intron_variant MELA-AU 10 49969012 49969012 single base substitution G A intron_variant MELA-AU 10 49969070 49969070 single base substitution G A intron_variant MELA-AU 10 49969177 49969177 single base substitution G A intron_variant MELA-AU 10 49969195 49969195 single base substitution A G intron_variant MELA-AU 10 49969220 49969220 single base substitution G T intron_variant MELA-AU 10 49969230 49969230 single base substitution G A intron_variant MELA-AU 10 49969295 49969295 single base substitution G A intron_variant MELA-AU 10 49969529 49969529 single base substitution G A intron_variant MELA-AU 10 49969534 49969534 single base substitution G A intron_variant MELA-AU 10 49969542 49969542 single base substitution G A intron_variant MELA-AU 10 49969586 49969586 single base substitution A G intron_variant MELA-AU 10 49969675 49969675 single base substitution G A intron_variant MELA-AU 10 49969784 49969784 single base substitution G C intron_variant MELA-AU 10 49969802 49969802 single base substitution G A intron_variant MELA-AU 10 49969843 49969843 single base substitution G A intron_variant MELA-AU 10 49970057 49970057 single base substitution C T intron_variant MELA-AU 10 49970107 49970107 single base substitution C T intron_variant MELA-AU 10 49970249 49970249 single base substitution C T intron_variant MELA-AU 10 49970289 49970289 single base substitution C T intron_variant MELA-AU 10 49970341 49970341 single base substitution G A intron_variant MELA-AU 10 49970393 49970393 single base substitution G A intron_variant MELA-AU 10 49970441 49970441 single base substitution G A intron_variant MELA-AU 10 49970490 49970490 single base substitution G A intron_variant MELA-AU 10 49970568 49970568 single base substitution G A intron_variant MELA-AU 10 49970691 49970691 single base substitution C T intron_variant MELA-AU 10 49971011 49971012 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 49971012 49971012 single base substitution G A intron_variant MELA-AU 10 49971231 49971231 single base substitution C T intron_variant MELA-AU 10 49971257 49971257 single base substitution G A intron_variant MELA-AU 10 49971268 49971268 single base substitution C T intron_variant MELA-AU 10 49971561 49971561 single base substitution G A intron_variant MELA-AU 10 49971635 49971635 single base substitution G A intron_variant MELA-AU 10 49972078 49972078 single base substitution A T intron_variant MELA-AU 10 49972088 49972088 single base substitution C T intron_variant MELA-AU 10 49972100 49972100 single base substitution C T intron_variant MELA-AU 10 49972176 49972176 single base substitution C T intron_variant MELA-AU 10 49972267 49972267 single base substitution C T intron_variant MELA-AU 10 49972309 49972309 single base substitution C G intron_variant MELA-AU 10 49972357 49972357 single base substitution G A intron_variant MELA-AU 10 49972359 49972359 single base substitution A G intron_variant MELA-AU 10 49972371 49972371 single base substitution C T intron_variant MELA-AU 10 49972467 49972467 single base substitution C T intron_variant MELA-AU 10 49972581 49972581 single base substitution C T intron_variant MELA-AU 10 49972949 49972949 single base substitution G A intron_variant MELA-AU 10 49972984 49972984 single base substitution G A intron_variant MELA-AU 10 49972992 49972992 single base substitution T C intron_variant MELA-AU 10 49973002 49973002 single base substitution G A intron_variant MELA-AU 10 49973602 49973602 single base substitution C T intron_variant MELA-AU 10 49973725 49973725 single base substitution C T intron_variant MELA-AU 10 49973871 49973871 single base substitution G A intron_variant MELA-AU 10 49974009 49974009 single base substitution G A intron_variant MELA-AU 10 49974145 49974145 single base substitution C T intron_variant MELA-AU 10 49974155 49974155 single base substitution G A intron_variant MELA-AU 10 49974207 49974207 single base substitution C T intron_variant MELA-AU 10 49974243 49974243 single base substitution C T intron_variant MELA-AU 10 49974487 49974487 single base substitution C T intron_variant MELA-AU 10 49974723 49974723 single base substitution G A intron_variant MELA-AU 10 49974738 49974738 single base substitution G A intron_variant MELA-AU 10 49974798 49974798 single base substitution T A intron_variant MELA-AU 10 49974960 49974960 single base substitution G A intron_variant MELA-AU 10 49974976 49974976 single base substitution G A intron_variant MELA-AU 10 49975017 49975017 single base substitution G A intron_variant MELA-AU 10 49975085 49975085 single base substitution C T intron_variant MELA-AU 10 49975154 49975154 single base substitution C T intron_variant MELA-AU 10 49975221 49975221 single base substitution G A intron_variant MELA-AU 10 49975277 49975277 single base substitution G A intron_variant MELA-AU 10 49975705 49975705 single base substitution G A intron_variant MELA-AU 10 49975729 49975729 single base substitution T A intron_variant MELA-AU 10 49975793 49975793 single base substitution G A intron_variant MELA-AU 10 49975807 49975808 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 49976144 49976144 single base substitution G A intron_variant MELA-AU 10 49976239 49976239 single base substitution G A intron_variant MELA-AU 10 49976299 49976299 single base substitution C T intron_variant MELA-AU 10 49976534 49976534 single base substitution C T intron_variant MELA-AU 10 49976557 49976557 single base substitution C T intron_variant MELA-AU 10 49976664 49976664 single base substitution G A intron_variant MELA-AU 10 49976704 49976704 single base substitution G A intron_variant MELA-AU 10 49976729 49976729 single base substitution C T intron_variant MELA-AU 10 49976828 49976828 single base substitution G A intron_variant MELA-AU 10 49976936 49976936 single base substitution G A intron_variant MELA-AU 10 49977114 49977114 single base substitution G A intron_variant MELA-AU 10 49977147 49977147 single base substitution G A intron_variant MELA-AU 10 49977163 49977163 single base substitution A G intron_variant MELA-AU 10 49977261 49977261 single base substitution G A intron_variant MELA-AU 10 49977533 49977533 single base substitution G A intron_variant MELA-AU 10 49977541 49977541 single base substitution G A intron_variant MELA-AU 10 49977734 49977734 single base substitution C G intron_variant MELA-AU 10 49977768 49977768 single base substitution C T intron_variant MELA-AU 10 49977823 49977823 single base substitution G A intron_variant MELA-AU 10 49977909 49977909 single base substitution C T intron_variant MELA-AU 10 49977958 49977958 single base substitution C T intron_variant MELA-AU 10 49977994 49977994 single base substitution C T intron_variant MELA-AU 10 49978021 49978021 single base substitution C T intron_variant MELA-AU 10 49978022 49978022 single base substitution C T intron_variant MELA-AU 10 49978217 49978217 single base substitution C T intron_variant MELA-AU 10 49978366 49978366 single base substitution G A intron_variant MELA-AU 10 49978472 49978472 single base substitution C T intron_variant MELA-AU 10 49978545 49978545 single base substitution A G intron_variant MELA-AU 10 49978872 49978872 single base substitution G A intron_variant MELA-AU 10 49978951 49978951 single base substitution G A intron_variant MELA-AU 10 49979032 49979032 single base substitution C T intron_variant MELA-AU 10 49979095 49979095 single base substitution G A intron_variant MELA-AU 10 49979126 49979126 single base substitution G A intron_variant MELA-AU 10 49979135 49979136 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 49979146 49979146 single base substitution T C intron_variant MELA-AU 10 49979346 49979346 single base substitution G A intron_variant MELA-AU 10 49979500 49979500 single base substitution C T intron_variant MELA-AU 10 49979532 49979532 single base substitution C T intron_variant MELA-AU 10 49979601 49979601 single base substitution G A intron_variant MELA-AU 10 49979624 49979624 single base substitution G A intron_variant MELA-AU 10 49979641 49979641 single base substitution C G intron_variant MELA-AU 10 49979787 49979787 single base substitution C T intron_variant MELA-AU 10 49979795 49979795 single base substitution C T intron_variant MELA-AU 10 49979842 49979842 single base substitution C T intron_variant MELA-AU 10 49979851 49979851 single base substitution G A intron_variant MELA-AU 10 49980211 49980211 single base substitution G A intron_variant MELA-AU 10 49980215 49980215 single base substitution G A intron_variant MELA-AU 10 49980290 49980290 single base substitution G A intron_variant MELA-AU 10 49980396 49980396 single base substitution G A intron_variant MELA-AU 10 49980473 49980473 single base substitution G A intron_variant MELA-AU 10 49980501 49980501 single base substitution T A intron_variant MELA-AU 10 49981205 49981205 single base substitution G A intron_variant MELA-AU 10 49981213 49981213 single base substitution G A intron_variant MELA-AU 10 49981354 49981354 single base substitution C T intron_variant MELA-AU 10 49981507 49981507 single base substitution G A intron_variant MELA-AU 10 49981515 49981515 single base substitution C T intron_variant MELA-AU 10 49981605 49981605 single base substitution C T intron_variant MELA-AU 10 49981639 49981639 single base substitution G A intron_variant MELA-AU 10 49981687 49981687 single base substitution C T intron_variant MELA-AU 10 49981766 49981766 single base substitution G A intron_variant MELA-AU 10 49981809 49981809 single base substitution T C intron_variant MELA-AU 10 49981917 49981917 single base substitution C T intron_variant MELA-AU 10 49981950 49981950 single base substitution G A intron_variant MELA-AU 10 49981995 49981995 single base substitution G A intron_variant MELA-AU 10 49982054 49982054 single base substitution A C intron_variant MELA-AU 10 49982217 49982217 single base substitution C T intron_variant MELA-AU 10 49982323 49982323 single base substitution C T intron_variant MELA-AU 10 49982402 49982402 single base substitution C T intron_variant MELA-AU 10 49982526 49982526 single base substitution C T synonymous_variant S859S 2577C>T MELA-AU 10 49982584 49982584 single base substitution G A missense_variant E879K 2635G>A MELA-AU 10 49982688 49982688 single base substitution T C synonymous_variant A913A 2739T>C MELA-AU 10 49982922 49982922 single base substitution C T intron_variant MELA-AU 10 49982991 49982991 single base substitution C T intron_variant MELA-AU 10 49983026 49983026 single base substitution G A intron_variant MELA-AU 10 49983099 49983099 single base substitution G A intron_variant MELA-AU 10 49983111 49983111 single base substitution G A intron_variant MELA-AU 10 49983141 49983141 single base substitution C T intron_variant MELA-AU 10 49983156 49983156 single base substitution C T intron_variant MELA-AU 10 49983235 49983235 single base substitution G A intron_variant MELA-AU 10 49983278 49983278 single base substitution G A intron_variant MELA-AU 10 49983302 49983302 single base substitution C T intron_variant MELA-AU 10 49983480 49983480 single base substitution C T intron_variant MELA-AU 10 49983545 49983545 single base substitution C T intron_variant MELA-AU 10 49983677 49983677 single base substitution G A intron_variant MELA-AU 10 49983700 49983700 single base substitution G A intron_variant MELA-AU 10 49983735 49983735 single base substitution T C intron_variant MELA-AU 10 49983736 49983736 single base substitution C T intron_variant MELA-AU 10 49983917 49983917 single base substitution G A intron_variant MELA-AU 10 49983922 49983922 single base substitution C T intron_variant MELA-AU 10 49984009 49984009 single base substitution C T intron_variant MELA-AU 10 49984082 49984082 single base substitution C T intron_variant MELA-AU 10 49984083 49984083 single base substitution C T intron_variant MELA-AU 10 49984278 49984278 single base substitution G A intron_variant MELA-AU 10 49984297 49984297 single base substitution G A intron_variant MELA-AU 10 49984360 49984360 single base substitution G A intron_variant MELA-AU 10 49984381 49984381 single base substitution C T intron_variant MELA-AU 10 49984404 49984404 single base substitution G A intron_variant MELA-AU 10 49984408 49984408 single base substitution G A intron_variant MELA-AU 10 49984428 49984428 single base substitution G A intron_variant MELA-AU 10 49984563 49984563 single base substitution G A intron_variant MELA-AU 10 49984776 49984776 single base substitution C T intron_variant MELA-AU 10 49984943 49984943 single base substitution C T synonymous_variant S1004S 3012C>T MELA-AU 10 49985038 49985038 single base substitution G A intron_variant MELA-AU 10 49985187 49985187 single base substitution C T intron_variant MELA-AU 10 49985232 49985232 single base substitution C T intron_variant MELA-AU 10 49985380 49985380 single base substitution G A intron_variant MELA-AU 10 49985419 49985419 single base substitution G A intron_variant MELA-AU 10 49985541 49985541 single base substitution G A intron_variant MELA-AU 10 49985541 49985541 single base substitution G A splice_donor_variant MELA-AU 10 49985614 49985614 single base substitution G A intron_variant MELA-AU 10 49985819 49985819 single base substitution C T intron_variant MELA-AU 10 49985858 49985858 single base substitution C T intron_variant MELA-AU 10 49985874 49985874 single base substitution T G intron_variant MELA-AU 10 49985929 49985929 single base substitution G A intron_variant MELA-AU 10 49985961 49985961 single base substitution C T intron_variant MELA-AU 10 49986051 49986051 single base substitution G A intron_variant MELA-AU 10 49986220 49986220 single base substitution C T intron_variant MELA-AU 10 49986477 49986477 single base substitution G A intron_variant MELA-AU 10 49986521 49986521 single base substitution G A intron_variant MELA-AU 10 49986673 49986673 single base substitution C T intron_variant MELA-AU 10 49986673 49986673 single base substitution C T missense_variant P1065S 3193C>T MELA-AU 10 49986708 49986708 single base substitution C T intron_variant MELA-AU 10 49986708 49986708 single base substitution C T synonymous_variant F1076F 3228C>T MELA-AU 10 49986745 49986745 single base substitution C T intron_variant MELA-AU 10 49986745 49986745 single base substitution C T missense_variant P1089S 3265C>T MELA-AU 10 49986930 49986930 single base substitution C T intron_variant MELA-AU 10 49986938 49986938 single base substitution G A intron_variant MELA-AU 10 49987317 49987317 single base substitution G A intron_variant MELA-AU 10 49987359 49987359 single base substitution C T intron_variant MELA-AU 10 49987360 49987360 single base substitution C T intron_variant MELA-AU 10 49987528 49987528 single base substitution G A intron_variant MELA-AU 10 49987576 49987576 single base substitution C T intron_variant MELA-AU 10 49987676 49987676 single base substitution G A intron_variant MELA-AU 10 49987716 49987716 single base substitution G A intron_variant MELA-AU 10 49987856 49987856 single base substitution C T intron_variant MELA-AU 10 49987875 49987875 single base substitution G A intron_variant MELA-AU 10 49987926 49987926 single base substitution C T intron_variant MELA-AU 10 49988015 49988015 single base substitution C T intron_variant MELA-AU 10 49988015 49988015 single base substitution C T missense_variant P1143S 3427C>T MELA-AU 10 49988056 49988056 single base substitution C T intron_variant MELA-AU 10 49988056 49988056 single base substitution C T synonymous_variant L1156L 3468C>T MELA-AU 10 49988074 49988074 single base substitution G A intron_variant MELA-AU 10 49988074 49988074 single base substitution G A stop_gained W1162* 3486G>A MELA-AU 10 49988102 49988102 single base substitution G A intron_variant MELA-AU 10 49988102 49988102 single base substitution G A missense_variant E1172K 3514G>A MELA-AU 10 49988104 49988104 single base substitution A T intron_variant MELA-AU 10 49988104 49988104 single base substitution A T missense_variant E1172D 3516A>T MELA-AU 10 49988138 49988138 single base substitution G A intron_variant MELA-AU 10 49988138 49988138 single base substitution G A missense_variant D1184N 3550G>A MELA-AU 10 49988500 49988500 single base substitution G A intron_variant MELA-AU 10 49988725 49988725 single base substitution G A intron_variant MELA-AU 10 49988729 49988729 single base substitution G T intron_variant MELA-AU 10 49988856 49988878 deletion of <=200bp GCATTTTAAAATCACCTGCAAAG - intron_variant MELA-AU 10 49988892 49988892 single base substitution C T intron_variant MELA-AU 10 49988941 49988941 single base substitution C T intron_variant MELA-AU 10 49989049 49989049 single base substitution G A intron_variant MELA-AU 10 49989090 49989090 single base substitution C T intron_variant MELA-AU 10 49989121 49989121 single base substitution C T intron_variant MELA-AU 10 49989289 49989289 single base substitution G A intron_variant MELA-AU 10 49989390 49989390 single base substitution G A intron_variant MELA-AU 10 49989464 49989464 single base substitution C T intron_variant MELA-AU 10 49989579 49989579 single base substitution G A intron_variant MELA-AU 10 49989698 49989698 single base substitution C T intron_variant MELA-AU 10 49989748 49989748 single base substitution C T intron_variant MELA-AU 10 49989760 49989760 single base substitution C T intron_variant MELA-AU 10 49989922 49989922 single base substitution G A intron_variant MELA-AU 10 49989984 49989984 single base substitution G A intron_variant MELA-AU 10 49990043 49990043 single base substitution C T intron_variant MELA-AU 10 49990155 49990155 single base substitution C T intron_variant MELA-AU 10 49990173 49990173 single base substitution G A intron_variant MELA-AU 10 49990196 49990196 single base substitution G A intron_variant MELA-AU 10 49990269 49990269 single base substitution T G intron_variant MELA-AU 10 49990275 49990275 single base substitution C T intron_variant MELA-AU 10 49990277 49990277 single base substitution G T intron_variant MELA-AU 10 49990428 49990428 single base substitution G A intron_variant MELA-AU 10 49990500 49990500 single base substitution G A intron_variant MELA-AU 10 49990667 49990667 single base substitution G A intron_variant MELA-AU 10 49991002 49991002 single base substitution G A intron_variant MELA-AU 10 49991085 49991085 single base substitution G A intron_variant MELA-AU 10 49991125 49991125 single base substitution G A intron_variant MELA-AU 10 49991197 49991197 single base substitution G A intron_variant MELA-AU 10 49992034 49992034 single base substitution G A intron_variant MELA-AU 10 49992073 49992073 single base substitution C G intron_variant MELA-AU 10 49992244 49992244 single base substitution G A intron_variant MELA-AU 10 49992318 49992318 single base substitution C T intron_variant MELA-AU 10 49992319 49992319 single base substitution G A intron_variant MELA-AU 10 49992344 49992344 single base substitution T C intron_variant MELA-AU 10 49992346 49992346 single base substitution C T intron_variant MELA-AU 10 49992599 49992599 single base substitution T A intron_variant MELA-AU 10 49992616 49992616 single base substitution C T intron_variant MELA-AU 10 49992685 49992685 single base substitution C T intron_variant MELA-AU 10 49992687 49992687 single base substitution A G intron_variant MELA-AU 10 49992802 49992802 single base substitution G A intron_variant MELA-AU 10 49992889 49992889 single base substitution C T intron_variant MELA-AU 10 49992966 49992966 single base substitution G A intron_variant MELA-AU 10 49993022 49993022 single base substitution C T intron_variant MELA-AU 10 49993126 49993126 single base substitution C T intron_variant MELA-AU 10 49993127 49993127 single base substitution G A intron_variant MELA-AU 10 49993175 49993175 single base substitution G A intron_variant MELA-AU 10 49993226 49993226 single base substitution G A intron_variant MELA-AU 10 49993324 49993324 single base substitution G A intron_variant MELA-AU 10 49993354 49993354 single base substitution T G intron_variant MELA-AU 10 49993415 49993415 single base substitution C T intron_variant MELA-AU 10 49993495 49993495 single base substitution T C intron_variant MELA-AU 10 49993496 49993496 single base substitution C T intron_variant MELA-AU 10 49993548 49993548 single base substitution G A intron_variant MELA-AU 10 49993639 49993639 single base substitution C T intron_variant MELA-AU 10 49993732 49993732 single base substitution G A intron_variant MELA-AU 10 49993832 49993832 single base substitution T A intron_variant MELA-AU 10 49993852 49993852 single base substitution T G intron_variant MELA-AU 10 49993872 49993872 single base substitution C T intron_variant MELA-AU 10 49993986 49993986 single base substitution G A intron_variant MELA-AU 10 49994021 49994021 single base substitution C T intron_variant MELA-AU 10 49994085 49994085 single base substitution G A intron_variant MELA-AU 10 49994236 49994236 single base substitution C T intron_variant MELA-AU 10 49994476 49994476 single base substitution C T intron_variant MELA-AU 10 49994717 49994717 single base substitution C T intron_variant MELA-AU 10 49994717 49994717 single base substitution C T missense_variant L1204F 3610C>T MELA-AU 10 49994967 49994967 single base substitution G A intron_variant MELA-AU 10 49995091 49995091 single base substitution G A intron_variant MELA-AU 10 49995135 49995135 single base substitution G A intron_variant MELA-AU 10 49995194 49995194 single base substitution A G intron_variant MELA-AU 10 49995242 49995242 single base substitution G A intron_variant MELA-AU 10 49995274 49995274 single base substitution C T intron_variant MELA-AU 10 49995376 49995376 single base substitution G A intron_variant MELA-AU 10 49995446 49995446 single base substitution C T intron_variant MELA-AU 10 49995499 49995499 single base substitution G A intron_variant MELA-AU 10 49995671 49995671 single base substitution C T intron_variant MELA-AU 10 49995747 49995747 single base substitution G A intron_variant MELA-AU 10 49995827 49995827 single base substitution C T intron_variant MELA-AU 10 49995848 49995848 single base substitution C T intron_variant MELA-AU 10 49995910 49995910 single base substitution T A intron_variant MELA-AU 10 49995915 49995915 single base substitution T G intron_variant MELA-AU 10 49995920 49995920 single base substitution T G intron_variant MELA-AU 10 49995998 49995998 single base substitution T C intron_variant MELA-AU 10 49996031 49996031 single base substitution C T intron_variant MELA-AU 10 49996038 49996038 single base substitution C T intron_variant MELA-AU 10 49996227 49996227 single base substitution C T intron_variant MELA-AU 10 49996277 49996277 single base substitution T C intron_variant MELA-AU 10 49996299 49996299 single base substitution C T intron_variant MELA-AU 10 49996386 49996386 single base substitution T G intron_variant MELA-AU 10 49996517 49996517 single base substitution G A intron_variant MELA-AU 10 49996623 49996623 single base substitution T A intron_variant MELA-AU 10 49996623 49996623 single base substitution T A missense_variant V1286D 3857T>A MELA-AU 10 49996626 49996626 single base substitution C T intron_variant MELA-AU 10 49996626 49996626 single base substitution C T missense_variant S1287F 3860C>T MELA-AU 10 49996936 49996936 single base substitution G A intron_variant MELA-AU 10 49996943 49996943 single base substitution C T intron_variant MELA-AU 10 49997094 49997094 single base substitution T A intron_variant MELA-AU 10 49997279 49997279 single base substitution G A intron_variant MELA-AU 10 49997372 49997372 single base substitution C T intron_variant MELA-AU 10 49997388 49997388 single base substitution C T intron_variant MELA-AU 10 49997395 49997395 single base substitution G A intron_variant MELA-AU 10 49997504 49997504 single base substitution C T intron_variant MELA-AU 10 49997541 49997541 single base substitution G A intron_variant MELA-AU 10 49997560 49997560 single base substitution C T intron_variant MELA-AU 10 49997725 49997725 single base substitution G A intron_variant MELA-AU 10 49997740 49997740 single base substitution G A intron_variant MELA-AU 10 49997795 49997795 single base substitution G A intron_variant MELA-AU 10 49997852 49997852 single base substitution G A intron_variant MELA-AU 10 49997871 49997871 single base substitution C T intron_variant MELA-AU 10 49998105 49998105 single base substitution T C intron_variant MELA-AU 10 49998146 49998146 single base substitution G A intron_variant MELA-AU 10 49998210 49998210 single base substitution A G intron_variant MELA-AU 10 49998370 49998370 single base substitution C T intron_variant MELA-AU 10 49998747 49998747 single base substitution G A intron_variant MELA-AU 10 49998783 49998783 single base substitution T A intron_variant MELA-AU 10 49998783 49998783 single base substitution T A missense_variant F1360I 4078T>A MELA-AU 10 49998819 49998819 single base substitution A G intron_variant MELA-AU 10 49998819 49998819 single base substitution A G missense_variant I1372V 4114A>G MELA-AU 10 49998890 49998890 single base substitution G A intron_variant MELA-AU 10 49998890 49998890 single base substitution G A synonymous_variant V1395V 4185G>A MELA-AU 10 49999058 49999058 single base substitution C T intron_variant MELA-AU 10 49999079 49999079 single base substitution G A intron_variant MELA-AU 10 49999249 49999249 single base substitution C T intron_variant MELA-AU 10 49999269 49999269 single base substitution G A intron_variant MELA-AU 10 49999428 49999428 single base substitution G A intron_variant MELA-AU 10 49999511 49999511 single base substitution C T intron_variant MELA-AU 10 49999729 49999729 single base substitution G A intron_variant MELA-AU 10 50000161 50000161 single base substitution C T intron_variant MELA-AU 10 50000168 50000168 single base substitution C T intron_variant MELA-AU 10 50000312 50000312 single base substitution C T intron_variant MELA-AU 10 50000342 50000342 single base substitution C T intron_variant MELA-AU 10 50000387 50000387 single base substitution C T intron_variant MELA-AU 10 50000508 50000508 single base substitution G A intron_variant MELA-AU 10 50000702 50000702 single base substitution C T intron_variant MELA-AU 10 50000728 50000728 single base substitution G A intron_variant MELA-AU 10 50001035 50001035 single base substitution G T intron_variant MELA-AU 10 50001322 50001322 single base substitution C T intron_variant MELA-AU 10 50001387 50001387 single base substitution G A intron_variant MELA-AU 10 50001421 50001421 single base substitution G A intron_variant MELA-AU 10 50001450 50001450 single base substitution G A intron_variant MELA-AU 10 50001691 50001691 single base substitution C T intron_variant MELA-AU 10 50001851 50001851 single base substitution C T intron_variant MELA-AU 10 50001987 50001987 single base substitution T A intron_variant MELA-AU 10 50002018 50002018 single base substitution A G intron_variant MELA-AU 10 50002056 50002056 single base substitution C T intron_variant MELA-AU 10 50002075 50002075 single base substitution C T intron_variant MELA-AU 10 50002090 50002090 single base substitution G A intron_variant MELA-AU 10 50002280 50002280 single base substitution G A intron_variant MELA-AU 10 50002324 50002324 single base substitution G A intron_variant MELA-AU 10 50002440 50002440 single base substitution G A intron_variant MELA-AU 10 50002494 50002494 single base substitution G A intron_variant MELA-AU 10 50002565 50002565 single base substitution G A intron_variant MELA-AU 10 50002580 50002580 single base substitution G A intron_variant MELA-AU 10 50002737 50002737 single base substitution G A intron_variant MELA-AU 10 50002819 50002819 single base substitution G A intron_variant MELA-AU 10 50003015 50003016 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 50003291 50003291 single base substitution G A intron_variant MELA-AU 10 50003315 50003315 single base substitution G A intron_variant MELA-AU 10 50003362 50003362 single base substitution G A intron_variant MELA-AU 10 50003711 50003711 single base substitution G A intron_variant MELA-AU 10 50003728 50003728 single base substitution G A intron_variant MELA-AU 10 50003890 50003890 single base substitution C T intron_variant MELA-AU 10 50003920 50003920 single base substitution C T intron_variant MELA-AU 10 50003938 50003938 single base substitution G A intron_variant MELA-AU 10 50003983 50003983 single base substitution C T intron_variant MELA-AU 10 50004025 50004025 single base substitution G A intron_variant MELA-AU 10 50004030 50004030 single base substitution G A intron_variant MELA-AU 10 50004057 50004057 single base substitution G A intron_variant MELA-AU 10 50004063 50004063 single base substitution G A intron_variant MELA-AU 10 50004079 50004079 single base substitution G A intron_variant MELA-AU 10 50004209 50004209 single base substitution C T intron_variant MELA-AU 10 50004316 50004316 single base substitution G A intron_variant MELA-AU 10 50004335 50004335 single base substitution C T intron_variant MELA-AU 10 50004335 50004335 single base substitution C T splice_region_variant MELA-AU 10 50004438 50004438 single base substitution C T intron_variant MELA-AU 10 50004438 50004438 single base substitution C T synonymous_variant F1451F 4353C>T MELA-AU 10 50004492 50004492 single base substitution C T intron_variant MELA-AU 10 50004492 50004492 single base substitution C T synonymous_variant F1469F 4407C>T MELA-AU 10 50004752 50004752 single base substitution C T intron_variant MELA-AU 10 50004753 50004753 single base substitution C T intron_variant MELA-AU 10 50004760 50004760 single base substitution G A intron_variant MELA-AU 10 50004856 50004856 single base substitution C T intron_variant MELA-AU 10 50004934 50004934 single base substitution C T intron_variant MELA-AU 10 50005035 50005035 single base substitution C T intron_variant MELA-AU 10 50005064 50005064 single base substitution C T intron_variant MELA-AU 10 50005082 50005082 single base substitution G A intron_variant MELA-AU 10 50005475 50005475 single base substitution G A intron_variant MELA-AU 10 50005543 50005543 single base substitution C T intron_variant MELA-AU 10 50005712 50005712 single base substitution C T intron_variant MELA-AU 10 50005776 50005776 single base substitution G A intron_variant MELA-AU 10 50005894 50005894 single base substitution A G intron_variant MELA-AU 10 50005894 50005894 single base substitution A G upstream_gene_variant MELA-AU 10 50006526 50006526 single base substitution G A intron_variant MELA-AU 10 50006526 50006526 single base substitution G A upstream_gene_variant MELA-AU 10 50006819 50006819 single base substitution G T intron_variant MELA-AU 10 50006819 50006819 single base substitution G T upstream_gene_variant MELA-AU 10 50006989 50006989 single base substitution C T intron_variant MELA-AU 10 50006989 50006989 single base substitution C T upstream_gene_variant MELA-AU 10 50007077 50007077 single base substitution C T intron_variant MELA-AU 10 50007077 50007077 single base substitution C T upstream_gene_variant MELA-AU 10 50007599 50007599 single base substitution C T intron_variant MELA-AU 10 50007599 50007599 single base substitution C T upstream_gene_variant MELA-AU 10 50007712 50007712 single base substitution G A intron_variant MELA-AU 10 50007712 50007712 single base substitution G A upstream_gene_variant MELA-AU 10 50007728 50007728 single base substitution G A intron_variant MELA-AU 10 50007728 50007728 single base substitution G A upstream_gene_variant MELA-AU 10 50007813 50007813 single base substitution C T intron_variant MELA-AU 10 50007813 50007813 single base substitution C T upstream_gene_variant MELA-AU 10 50007902 50007902 single base substitution G A intron_variant MELA-AU 10 50007902 50007902 single base substitution G A upstream_gene_variant MELA-AU 10 50008107 50008107 single base substitution T A intron_variant MELA-AU 10 50008107 50008107 single base substitution T A upstream_gene_variant MELA-AU 10 50008209 50008209 single base substitution G A intron_variant MELA-AU 10 50008209 50008209 single base substitution G A upstream_gene_variant MELA-AU 10 50008234 50008234 single base substitution C T intron_variant MELA-AU 10 50008234 50008234 single base substitution C T upstream_gene_variant MELA-AU 10 50008347 50008347 single base substitution C T intron_variant MELA-AU 10 50008347 50008347 single base substitution C T upstream_gene_variant MELA-AU 10 50008642 50008642 single base substitution A G intron_variant MELA-AU 10 50008642 50008642 single base substitution A G upstream_gene_variant MELA-AU 10 50008757 50008757 single base substitution T A intron_variant MELA-AU 10 50008757 50008757 single base substitution T A upstream_gene_variant MELA-AU 10 50008761 50008761 single base substitution T A intron_variant MELA-AU 10 50008761 50008761 single base substitution T A upstream_gene_variant MELA-AU 10 50008779 50008779 single base substitution T C intron_variant MELA-AU 10 50008779 50008779 single base substitution T C upstream_gene_variant MELA-AU 10 50009072 50009072 single base substitution C T intron_variant MELA-AU 10 50009072 50009072 single base substitution C T upstream_gene_variant MELA-AU 10 50009368 50009368 single base substitution G A intron_variant MELA-AU 10 50009368 50009368 single base substitution G A upstream_gene_variant MELA-AU 10 50009814 50009814 single base substitution G A intron_variant MELA-AU 10 50009814 50009814 single base substitution G A upstream_gene_variant MELA-AU 10 50009853 50009853 single base substitution G A intron_variant MELA-AU 10 50009853 50009853 single base substitution G A upstream_gene_variant MELA-AU 10 50010348 50010348 single base substitution G A intron_variant MELA-AU 10 50010348 50010348 single base substitution G A upstream_gene_variant MELA-AU 10 50010884 50010884 single base substitution C T intron_variant MELA-AU 10 50010918 50010918 single base substitution T G intron_variant MELA-AU 10 50011326 50011326 single base substitution T A intron_variant MELA-AU 10 50011326 50011326 single base substitution T A splice_region_variant MELA-AU 10 50011390 50011390 single base substitution C T intron_variant MELA-AU 10 50011390 50011390 single base substitution C T synonymous_variant I1490I 4470C>T MELA-AU 10 50011390 50011390 single base substitution C T synonymous_variant I36I 108C>T MELA-AU 10 50011432 50011432 single base substitution T C intron_variant MELA-AU 10 50011531 50011531 single base substitution C T intron_variant MELA-AU 10 50011534 50011534 single base substitution C T intron_variant MELA-AU 10 50011627 50011627 single base substitution G A intron_variant MELA-AU 10 50011628 50011628 single base substitution G A intron_variant MELA-AU 10 50011680 50011680 single base substitution C T intron_variant MELA-AU 10 50011798 50011798 single base substitution G A intron_variant MELA-AU 10 50012198 50012198 single base substitution G A intron_variant MELA-AU 10 50012452 50012452 single base substitution G A intron_variant MELA-AU 10 50013390 50013390 single base substitution C T intron_variant MELA-AU 10 50013390 50013390 single base substitution C T missense_variant P1524S 4570C>T MELA-AU 10 50013390 50013390 single base substitution C T missense_variant P70S 208C>T MELA-AU 10 50013584 50013584 single base substitution G A intron_variant MELA-AU 10 50013652 50013652 single base substitution T A intron_variant MELA-AU 10 50014117 50014117 single base substitution G A intron_variant MELA-AU 10 50014117 50014117 single base substitution G A missense_variant G118E 353G>A MELA-AU 10 50014117 50014117 single base substitution G A missense_variant G1572E 4715G>A MELA-AU 10 50014334 50014334 single base substitution C T intron_variant MELA-AU 10 50014725 50014725 single base substitution C T intron_variant MELA-AU 10 50014817 50014817 single base substitution G A intron_variant MELA-AU 10 50015003 50015003 single base substitution C T intron_variant MELA-AU 10 50015507 50015507 single base substitution G A intron_variant MELA-AU 10 50015643 50015643 single base substitution C T intron_variant MELA-AU 10 50016018 50016018 single base substitution G A intron_variant MELA-AU 10 50016133 50016133 single base substitution G A intron_variant MELA-AU 10 50016378 50016378 single base substitution G T intron_variant MELA-AU 10 50017224 50017224 single base substitution C T intron_variant MELA-AU 10 50017395 50017395 single base substitution C T intron_variant MELA-AU 10 50017737 50017737 single base substitution C T intron_variant MELA-AU 10 50017765 50017765 single base substitution G A intron_variant MELA-AU 10 50017810 50017810 single base substitution A G intron_variant MELA-AU 10 50017856 50017856 single base substitution C T intron_variant MELA-AU 10 50018025 50018025 single base substitution C T intron_variant MELA-AU 10 50018044 50018044 single base substitution A G intron_variant MELA-AU 10 50018182 50018182 single base substitution G A intron_variant MELA-AU 10 50018364 50018364 single base substitution A C intron_variant MELA-AU 10 50018408 50018408 single base substitution T C intron_variant MELA-AU 10 50018633 50018634 multiple base substitution (>=2bp and <=200bp) GG AA 3_prime_UTR_variant MELA-AU 10 50018633 50018634 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant G1633N 4897GG>AA MELA-AU 10 50018633 50018634 multiple base substitution (>=2bp and <=200bp) GG AA missense_variant G179N 535GG>AA MELA-AU 10 50018739 50018739 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50018739 50018739 single base substitution C T missense_variant S1668F 5003C>T MELA-AU 10 50018739 50018739 single base substitution C T missense_variant S214F 641C>T MELA-AU 10 50018768 50018768 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50018768 50018768 single base substitution G A missense_variant D1678N 5032G>A MELA-AU 10 50018768 50018768 single base substitution G A missense_variant D224N 670G>A MELA-AU 10 50018859 50018859 single base substitution T C intron_variant MELA-AU 10 50018900 50018900 single base substitution G A intron_variant MELA-AU 10 50018962 50018962 single base substitution C T intron_variant MELA-AU 10 50018998 50018998 single base substitution C T intron_variant MELA-AU 10 50019093 50019093 single base substitution C T intron_variant MELA-AU 10 50019129 50019129 single base substitution G A intron_variant MELA-AU 10 50019315 50019315 single base substitution A C intron_variant MELA-AU 10 50019507 50019508 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 50019687 50019687 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50019687 50019687 single base substitution G A synonymous_variant E1716E 5148G>A MELA-AU 10 50019687 50019687 single base substitution G A synonymous_variant E262E 786G>A MELA-AU 10 50019845 50019845 single base substitution C T intron_variant MELA-AU 10 50019865 50019865 single base substitution G A intron_variant MELA-AU 10 50020158 50020158 single base substitution C T intron_variant MELA-AU 10 50020368 50020368 single base substitution G A intron_variant MELA-AU 10 50020633 50020633 single base substitution C T intron_variant MELA-AU 10 50020725 50020725 single base substitution C T intron_variant MELA-AU 10 50020890 50020890 single base substitution C T intron_variant MELA-AU 10 50021013 50021013 single base substitution C T intron_variant MELA-AU 10 50021020 50021020 single base substitution G A intron_variant MELA-AU 10 50021045 50021045 single base substitution C T intron_variant MELA-AU 10 50021233 50021233 single base substitution G A intron_variant MELA-AU 10 50021543 50021543 single base substitution G A intron_variant MELA-AU 10 50021666 50021666 single base substitution C T intron_variant MELA-AU 10 50021767 50021767 single base substitution A C intron_variant MELA-AU 10 50021827 50021827 single base substitution C T intron_variant MELA-AU 10 50021854 50021854 single base substitution T G intron_variant MELA-AU 10 50021858 50021858 single base substitution C T intron_variant MELA-AU 10 50021903 50021903 single base substitution C T intron_variant MELA-AU 10 50021904 50021904 single base substitution C T intron_variant MELA-AU 10 50021947 50021947 single base substitution C T intron_variant MELA-AU 10 50021998 50021998 single base substitution C T splice_region_variant MELA-AU 10 50022050 50022050 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50022050 50022050 single base substitution G A missense_variant E1755K 5263G>A MELA-AU 10 50022050 50022050 single base substitution G A missense_variant E301K 901G>A MELA-AU 10 50022570 50022570 single base substitution C T intron_variant MELA-AU 10 50022808 50022808 single base substitution G A intron_variant MELA-AU 10 50022945 50022945 single base substitution C T intron_variant MELA-AU 10 50023256 50023256 single base substitution G A intron_variant MELA-AU 10 50023286 50023286 single base substitution C T intron_variant MELA-AU 10 50023503 50023503 single base substitution G A intron_variant MELA-AU 10 50023694 50023694 single base substitution G A intron_variant MELA-AU 10 50023696 50023696 single base substitution G A intron_variant MELA-AU 10 50023733 50023733 single base substitution C T intron_variant MELA-AU 10 50023805 50023805 single base substitution C T intron_variant MELA-AU 10 50023874 50023874 single base substitution A C intron_variant MELA-AU 10 50024071 50024071 single base substitution G A intron_variant MELA-AU 10 50024079 50024079 single base substitution C T intron_variant MELA-AU 10 50024126 50024126 single base substitution A T intron_variant MELA-AU 10 50024271 50024271 single base substitution C T intron_variant MELA-AU 10 50024271 50024271 single base substitution C T upstream_gene_variant MELA-AU 10 50024361 50024361 single base substitution T A intron_variant MELA-AU 10 50024361 50024361 single base substitution T A upstream_gene_variant MELA-AU 10 50024420 50024420 single base substitution G A intron_variant MELA-AU 10 50024420 50024420 single base substitution G A upstream_gene_variant MELA-AU 10 50024550 50024550 single base substitution G A intron_variant MELA-AU 10 50024550 50024550 single base substitution G A upstream_gene_variant MELA-AU 10 50024577 50024577 single base substitution A T intron_variant MELA-AU 10 50024577 50024577 single base substitution A T upstream_gene_variant MELA-AU 10 50024716 50024716 single base substitution G A intron_variant MELA-AU 10 50024716 50024716 single base substitution G A upstream_gene_variant MELA-AU 10 50025167 50025167 single base substitution T C intron_variant MELA-AU 10 50025167 50025167 single base substitution T C upstream_gene_variant MELA-AU 10 50025328 50025328 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50025328 50025328 single base substitution C T synonymous_variant T1793T 5379C>T MELA-AU 10 50025328 50025328 single base substitution C T synonymous_variant T339T 1017C>T MELA-AU 10 50025328 50025328 single base substitution C T upstream_gene_variant MELA-AU 10 50025529 50025529 single base substitution C T intron_variant MELA-AU 10 50025529 50025529 single base substitution C T upstream_gene_variant MELA-AU 10 50025535 50025535 single base substitution C T intron_variant MELA-AU 10 50025535 50025535 single base substitution C T upstream_gene_variant MELA-AU 10 50025763 50025763 single base substitution C T intron_variant MELA-AU 10 50025763 50025763 single base substitution C T upstream_gene_variant MELA-AU 10 50025813 50025813 single base substitution G T intron_variant MELA-AU 10 50025813 50025813 single base substitution G T upstream_gene_variant MELA-AU 10 50025857 50025857 single base substitution C T intron_variant MELA-AU 10 50025857 50025857 single base substitution C T upstream_gene_variant MELA-AU 10 50025892 50025892 single base substitution C T intron_variant MELA-AU 10 50025892 50025892 single base substitution C T upstream_gene_variant MELA-AU 10 50025979 50025979 single base substitution G A intron_variant MELA-AU 10 50025979 50025979 single base substitution G A upstream_gene_variant MELA-AU 10 50026161 50026161 single base substitution G A intron_variant MELA-AU 10 50026161 50026161 single base substitution G A upstream_gene_variant MELA-AU 10 50026182 50026182 single base substitution C T intron_variant MELA-AU 10 50026182 50026182 single base substitution C T upstream_gene_variant MELA-AU 10 50026269 50026269 single base substitution C T intron_variant MELA-AU 10 50026269 50026269 single base substitution C T upstream_gene_variant MELA-AU 10 50026559 50026559 single base substitution C T intron_variant MELA-AU 10 50026559 50026559 single base substitution C T upstream_gene_variant MELA-AU 10 50026575 50026575 single base substitution G A intron_variant MELA-AU 10 50026575 50026575 single base substitution G A upstream_gene_variant MELA-AU 10 50026629 50026629 single base substitution C T intron_variant MELA-AU 10 50026629 50026629 single base substitution C T upstream_gene_variant MELA-AU 10 50026648 50026648 single base substitution G A intron_variant MELA-AU 10 50026648 50026648 single base substitution G A upstream_gene_variant MELA-AU 10 50026934 50026934 single base substitution G A intron_variant MELA-AU 10 50026934 50026934 single base substitution G A upstream_gene_variant MELA-AU 10 50026953 50026953 single base substitution G A intron_variant MELA-AU 10 50026953 50026953 single base substitution G A upstream_gene_variant MELA-AU 10 50027020 50027020 single base substitution G A intron_variant MELA-AU 10 50027020 50027020 single base substitution G A upstream_gene_variant MELA-AU 10 50027034 50027034 single base substitution T G intron_variant MELA-AU 10 50027034 50027034 single base substitution T G upstream_gene_variant MELA-AU 10 50027305 50027305 single base substitution C T intron_variant MELA-AU 10 50027305 50027305 single base substitution C T upstream_gene_variant MELA-AU 10 50027337 50027337 single base substitution G A intron_variant MELA-AU 10 50027337 50027337 single base substitution G A upstream_gene_variant MELA-AU 10 50027501 50027501 single base substitution G A intron_variant MELA-AU 10 50027501 50027501 single base substitution G A upstream_gene_variant MELA-AU 10 50027729 50027729 single base substitution G A intron_variant MELA-AU 10 50027729 50027729 single base substitution G A upstream_gene_variant MELA-AU 10 50027741 50027741 single base substitution A G intron_variant MELA-AU 10 50027741 50027741 single base substitution A G upstream_gene_variant MELA-AU 10 50027836 50027836 single base substitution C T intron_variant MELA-AU 10 50027836 50027836 single base substitution C T upstream_gene_variant MELA-AU 10 50027919 50027919 single base substitution C T intron_variant MELA-AU 10 50027919 50027919 single base substitution C T upstream_gene_variant MELA-AU 10 50028379 50028379 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50028379 50028379 single base substitution C T missense_variant P1869L 5606C>T MELA-AU 10 50028379 50028379 single base substitution C T missense_variant P415L 1244C>T MELA-AU 10 50028379 50028379 single base substitution C T upstream_gene_variant MELA-AU 10 50028491 50028491 single base substitution G A intron_variant MELA-AU 10 50028491 50028491 single base substitution G A upstream_gene_variant MELA-AU 10 50028612 50028612 single base substitution C T intron_variant MELA-AU 10 50028612 50028612 single base substitution C T upstream_gene_variant MELA-AU 10 50028749 50028749 single base substitution G A intron_variant MELA-AU 10 50028749 50028749 single base substitution G A upstream_gene_variant MELA-AU 10 50028765 50028765 single base substitution G A intron_variant MELA-AU 10 50028765 50028765 single base substitution G A upstream_gene_variant MELA-AU 10 50028977 50028977 single base substitution G A intron_variant MELA-AU 10 50028977 50028977 single base substitution G A upstream_gene_variant MELA-AU 10 50029038 50029038 single base substitution G A intron_variant MELA-AU 10 50029038 50029038 single base substitution G A upstream_gene_variant MELA-AU 10 50029103 50029103 single base substitution C T splice_region_variant MELA-AU 10 50029103 50029103 single base substitution C T upstream_gene_variant MELA-AU 10 50029251 50029251 single base substitution C T intron_variant MELA-AU 10 50029299 50029299 single base substitution G A intron_variant MELA-AU 10 50029382 50029383 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 50029399 50029400 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 50029481 50029481 single base substitution C T intron_variant MELA-AU 10 50029614 50029614 single base substitution G A intron_variant MELA-AU 10 50029621 50029621 single base substitution G A intron_variant MELA-AU 10 50029641 50029641 single base substitution C T intron_variant MELA-AU 10 50029642 50029642 single base substitution C T intron_variant MELA-AU 10 50029704 50029704 single base substitution C T intron_variant MELA-AU 10 50029832 50029832 single base substitution G A intron_variant MELA-AU 10 50029834 50029834 single base substitution G A intron_variant MELA-AU 10 50030078 50030078 single base substitution C T intron_variant MELA-AU 10 50030088 50030088 single base substitution G A intron_variant MELA-AU 10 50030170 50030170 single base substitution G A intron_variant MELA-AU 10 50030177 50030177 single base substitution G A intron_variant MELA-AU 10 50030363 50030363 single base substitution G A intron_variant MELA-AU 10 50030365 50030365 single base substitution G A intron_variant MELA-AU 10 50030433 50030433 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50030433 50030433 single base substitution G A missense_variant E1945K 5833G>A MELA-AU 10 50030433 50030433 single base substitution G A missense_variant E31K 91G>A MELA-AU 10 50030433 50030433 single base substitution G A missense_variant E491K 1471G>A MELA-AU 10 50030533 50030533 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50030533 50030533 single base substitution C T missense_variant S1978L 5933C>T MELA-AU 10 50030533 50030533 single base substitution C T missense_variant S524L 1571C>T MELA-AU 10 50030533 50030533 single base substitution C T missense_variant S64L 191C>T MELA-AU 10 50030541 50030541 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50030541 50030541 single base substitution C T missense_variant P1981S 5941C>T MELA-AU 10 50030541 50030541 single base substitution C T missense_variant P527S 1579C>T MELA-AU 10 50030541 50030541 single base substitution C T missense_variant P67S 199C>T MELA-AU 10 50030602 50030602 single base substitution C T intron_variant MELA-AU 10 50030625 50030625 single base substitution G A intron_variant MELA-AU 10 50030653 50030653 single base substitution T A intron_variant MELA-AU 10 50030672 50030672 single base substitution C T intron_variant MELA-AU 10 50030702 50030702 single base substitution G A intron_variant MELA-AU 10 50031147 50031147 single base substitution G C intron_variant MELA-AU 10 50031172 50031172 single base substitution G A intron_variant MELA-AU 10 50031250 50031250 single base substitution A G intron_variant MELA-AU 10 50031250 50031250 single base substitution A G synonymous_variant R548R 1644A>G MELA-AU 10 50031274 50031274 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50031274 50031274 single base substitution G A intron_variant MELA-AU 10 50031316 50031316 single base substitution A C 3_prime_UTR_variant MELA-AU 10 50031316 50031316 single base substitution A C intron_variant MELA-AU 10 50031358 50031358 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50031358 50031358 single base substitution G A intron_variant MELA-AU 10 50031645 50031645 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50031645 50031645 single base substitution G A intron_variant MELA-AU 10 50031828 50031828 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50031828 50031828 single base substitution C T intron_variant MELA-AU 10 50031879 50031879 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50031879 50031879 single base substitution C T intron_variant MELA-AU 10 50032060 50032060 single base substitution T C 3_prime_UTR_variant MELA-AU 10 50032060 50032060 single base substitution T C intron_variant MELA-AU 10 50032301 50032301 single base substitution C T downstream_gene_variant MELA-AU 10 50032301 50032301 single base substitution C T intron_variant MELA-AU 10 50032509 50032509 single base substitution T A downstream_gene_variant MELA-AU 10 50032509 50032509 single base substitution T A intron_variant MELA-AU 10 50032626 50032626 single base substitution C T downstream_gene_variant MELA-AU 10 50032626 50032626 single base substitution C T intron_variant MELA-AU 10 50032667 50032667 single base substitution A G downstream_gene_variant MELA-AU 10 50032667 50032667 single base substitution A G intron_variant MELA-AU 10 50032755 50032755 single base substitution G A downstream_gene_variant MELA-AU 10 50032755 50032755 single base substitution G A intron_variant MELA-AU 10 50032770 50032770 single base substitution G A downstream_gene_variant MELA-AU 10 50032770 50032770 single base substitution G A intron_variant MELA-AU 10 50032846 50032846 single base substitution G A downstream_gene_variant MELA-AU 10 50032846 50032846 single base substitution G A intron_variant MELA-AU 10 50032865 50032865 single base substitution T A downstream_gene_variant MELA-AU 10 50032865 50032865 single base substitution T A intron_variant MELA-AU 10 50032897 50032897 single base substitution C T downstream_gene_variant MELA-AU 10 50032897 50032897 single base substitution C T intron_variant MELA-AU 10 50032949 50032949 single base substitution C T downstream_gene_variant MELA-AU 10 50032949 50032949 single base substitution C T intron_variant MELA-AU 10 50033005 50033005 single base substitution T A downstream_gene_variant MELA-AU 10 50033005 50033005 single base substitution T A intron_variant MELA-AU 10 50033138 50033138 single base substitution C T downstream_gene_variant MELA-AU 10 50033138 50033138 single base substitution C T intron_variant MELA-AU 10 50033151 50033151 single base substitution C T downstream_gene_variant MELA-AU 10 50033151 50033151 single base substitution C T intron_variant MELA-AU 10 50033188 50033188 single base substitution G T downstream_gene_variant MELA-AU 10 50033188 50033188 single base substitution G T intron_variant MELA-AU 10 50033207 50033207 single base substitution C T downstream_gene_variant MELA-AU 10 50033207 50033207 single base substitution C T intron_variant MELA-AU 10 50033208 50033208 single base substitution C T downstream_gene_variant MELA-AU 10 50033208 50033208 single base substitution C T intron_variant MELA-AU 10 50033340 50033340 single base substitution C T downstream_gene_variant MELA-AU 10 50033340 50033340 single base substitution C T intron_variant MELA-AU 10 50033355 50033356 multiple base substitution (>=2bp and <=200bp) TA GG downstream_gene_variant MELA-AU 10 50033355 50033356 multiple base substitution (>=2bp and <=200bp) TA GG intron_variant MELA-AU 10 50033393 50033393 single base substitution C T downstream_gene_variant MELA-AU 10 50033393 50033393 single base substitution C T intron_variant MELA-AU 10 50033469 50033469 single base substitution G A downstream_gene_variant MELA-AU 10 50033469 50033469 single base substitution G A intron_variant MELA-AU 10 50033503 50033503 single base substitution C T downstream_gene_variant MELA-AU 10 50033503 50033503 single base substitution C T intron_variant MELA-AU 10 50033504 50033504 single base substitution C T downstream_gene_variant MELA-AU 10 50033504 50033504 single base substitution C T intron_variant MELA-AU 10 50033526 50033526 single base substitution G A downstream_gene_variant MELA-AU 10 50033526 50033526 single base substitution G A intron_variant MELA-AU 10 50033669 50033669 single base substitution C T downstream_gene_variant MELA-AU 10 50033669 50033669 single base substitution C T intron_variant MELA-AU 10 50033924 50033924 single base substitution C T downstream_gene_variant MELA-AU 10 50033924 50033924 single base substitution C T intron_variant MELA-AU 10 50033948 50033948 single base substitution G T downstream_gene_variant MELA-AU 10 50033948 50033948 single base substitution G T intron_variant MELA-AU 10 50034012 50034012 single base substitution C T downstream_gene_variant MELA-AU 10 50034012 50034012 single base substitution C T intron_variant MELA-AU 10 50034063 50034063 single base substitution G A downstream_gene_variant MELA-AU 10 50034063 50034063 single base substitution G A intron_variant MELA-AU 10 50034110 50034110 single base substitution C T downstream_gene_variant MELA-AU 10 50034110 50034110 single base substitution C T intron_variant MELA-AU 10 50034113 50034113 single base substitution C T downstream_gene_variant MELA-AU 10 50034113 50034113 single base substitution C T intron_variant MELA-AU 10 50034174 50034174 single base substitution C T downstream_gene_variant MELA-AU 10 50034174 50034174 single base substitution C T intron_variant MELA-AU 10 50034354 50034354 single base substitution G A downstream_gene_variant MELA-AU 10 50034354 50034354 single base substitution G A intron_variant MELA-AU 10 50034516 50034516 single base substitution G A downstream_gene_variant MELA-AU 10 50034516 50034516 single base substitution G A intron_variant MELA-AU 10 50034555 50034555 single base substitution C T downstream_gene_variant MELA-AU 10 50034555 50034555 single base substitution C T intron_variant MELA-AU 10 50034824 50034824 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50034824 50034824 single base substitution G A downstream_gene_variant MELA-AU 10 50034824 50034824 single base substitution G A missense_variant E117K 349G>A MELA-AU 10 50034824 50034824 single base substitution G A missense_variant E2031K 6091G>A MELA-AU 10 50034872 50034872 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50034872 50034872 single base substitution G A downstream_gene_variant MELA-AU 10 50034872 50034872 single base substitution G A missense_variant D133N 397G>A MELA-AU 10 50034872 50034872 single base substitution G A missense_variant D2047N 6139G>A MELA-AU 10 50034886 50034886 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50034886 50034886 single base substitution C T downstream_gene_variant MELA-AU 10 50034886 50034886 single base substitution C T synonymous_variant A137A 411C>T MELA-AU 10 50034886 50034886 single base substitution C T synonymous_variant A2051A 6153C>T MELA-AU 10 50034910 50034910 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50034910 50034910 single base substitution C T downstream_gene_variant MELA-AU 10 50034910 50034910 single base substitution C T synonymous_variant F145F 435C>T MELA-AU 10 50034910 50034910 single base substitution C T synonymous_variant F2059F 6177C>T MELA-AU 10 50034988 50034988 single base substitution G A downstream_gene_variant MELA-AU 10 50034988 50034988 single base substitution G A intron_variant MELA-AU 10 50035000 50035000 single base substitution G A downstream_gene_variant MELA-AU 10 50035000 50035000 single base substitution G A intron_variant MELA-AU 10 50035408 50035408 single base substitution C T downstream_gene_variant MELA-AU 10 50035408 50035408 single base substitution C T intron_variant MELA-AU 10 50035460 50035460 single base substitution C T downstream_gene_variant MELA-AU 10 50035460 50035460 single base substitution C T intron_variant MELA-AU 10 50035495 50035495 single base substitution G A downstream_gene_variant MELA-AU 10 50035495 50035495 single base substitution G A intron_variant MELA-AU 10 50035628 50035628 single base substitution C T downstream_gene_variant MELA-AU 10 50035628 50035628 single base substitution C T intron_variant MELA-AU 10 50035648 50035648 single base substitution G A downstream_gene_variant MELA-AU 10 50035648 50035648 single base substitution G A intron_variant MELA-AU 10 50035671 50035671 single base substitution G A downstream_gene_variant MELA-AU 10 50035671 50035671 single base substitution G A intron_variant MELA-AU 10 50035688 50035688 single base substitution G A downstream_gene_variant MELA-AU 10 50035688 50035688 single base substitution G A intron_variant MELA-AU 10 50035827 50035827 single base substitution C T downstream_gene_variant MELA-AU 10 50035827 50035827 single base substitution C T intron_variant MELA-AU 10 50035933 50035933 single base substitution G A downstream_gene_variant MELA-AU 10 50035933 50035933 single base substitution G A intron_variant MELA-AU 10 50036048 50036048 single base substitution G A downstream_gene_variant MELA-AU 10 50036048 50036048 single base substitution G A intron_variant MELA-AU 10 50036123 50036123 single base substitution C T downstream_gene_variant MELA-AU 10 50036123 50036123 single base substitution C T intron_variant MELA-AU 10 50036220 50036221 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 10 50036220 50036221 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 50036246 50036246 single base substitution G A downstream_gene_variant MELA-AU 10 50036246 50036246 single base substitution G A intron_variant MELA-AU 10 50036263 50036263 single base substitution C T downstream_gene_variant MELA-AU 10 50036263 50036263 single base substitution C T intron_variant MELA-AU 10 50036273 50036273 single base substitution C T downstream_gene_variant MELA-AU 10 50036273 50036273 single base substitution C T intron_variant MELA-AU 10 50036463 50036463 single base substitution G A downstream_gene_variant MELA-AU 10 50036463 50036463 single base substitution G A intron_variant MELA-AU 10 50036603 50036603 single base substitution C T downstream_gene_variant MELA-AU 10 50036603 50036603 single base substitution C T intron_variant MELA-AU 10 50036609 50036609 single base substitution G A downstream_gene_variant MELA-AU 10 50036609 50036609 single base substitution G A intron_variant MELA-AU 10 50036776 50036776 single base substitution G A downstream_gene_variant MELA-AU 10 50036776 50036776 single base substitution G A intron_variant MELA-AU 10 50036901 50036901 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50036901 50036901 single base substitution C T downstream_gene_variant MELA-AU 10 50036901 50036901 single base substitution C T synonymous_variant D186D 558C>T MELA-AU 10 50036901 50036901 single base substitution C T synonymous_variant D2100D 6300C>T MELA-AU 10 50037045 50037045 single base substitution C T downstream_gene_variant MELA-AU 10 50037045 50037045 single base substitution C T intron_variant MELA-AU 10 50037046 50037046 single base substitution C T downstream_gene_variant MELA-AU 10 50037046 50037046 single base substitution C T intron_variant MELA-AU 10 50037187 50037187 single base substitution G A downstream_gene_variant MELA-AU 10 50037187 50037187 single base substitution G A intron_variant MELA-AU 10 50037218 50037218 single base substitution G A intron_variant MELA-AU 10 50037297 50037297 single base substitution C T intron_variant MELA-AU 10 50037455 50037455 single base substitution G A intron_variant MELA-AU 10 50037513 50037513 single base substitution T C intron_variant MELA-AU 10 50037543 50037543 single base substitution C T intron_variant MELA-AU 10 50037583 50037583 single base substitution T G intron_variant MELA-AU 10 50037667 50037667 single base substitution G A intron_variant MELA-AU 10 50037671 50037671 single base substitution G A intron_variant MELA-AU 10 50037824 50037824 single base substitution G A intron_variant MELA-AU 10 50037832 50037832 single base substitution G A intron_variant MELA-AU 10 50038108 50038108 single base substitution G A intron_variant MELA-AU 10 50038197 50038197 single base substitution C T intron_variant MELA-AU 10 50038212 50038212 single base substitution G A intron_variant MELA-AU 10 50038222 50038222 single base substitution G A intron_variant MELA-AU 10 50038266 50038266 single base substitution G A intron_variant MELA-AU 10 50038321 50038321 single base substitution C T intron_variant MELA-AU 10 50038436 50038436 single base substitution G A intron_variant MELA-AU 10 50038525 50038525 single base substitution G A intron_variant MELA-AU 10 50038833 50038833 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50038833 50038833 single base substitution C T synonymous_variant I2143I 6429C>T MELA-AU 10 50038833 50038833 single base substitution C T synonymous_variant I229I 687C>T MELA-AU 10 50038834 50038834 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50038834 50038834 single base substitution G A missense_variant D2144N 6430G>A MELA-AU 10 50038834 50038834 single base substitution G A missense_variant D230N 688G>A MELA-AU 10 50038892 50038892 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50038892 50038892 single base substitution G A stop_gained W2163* 6488G>A MELA-AU 10 50038892 50038892 single base substitution G A stop_gained W249* 746G>A MELA-AU 10 50038896 50038896 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50038896 50038896 single base substitution G A synonymous_variant E2164E 6492G>A MELA-AU 10 50038896 50038896 single base substitution G A synonymous_variant E250E 750G>A MELA-AU 10 50038960 50038960 single base substitution G A intron_variant MELA-AU 10 50039174 50039174 single base substitution C T intron_variant MELA-AU 10 50039181 50039181 single base substitution G A intron_variant MELA-AU 10 50039321 50039321 single base substitution C T intron_variant MELA-AU 10 50039342 50039342 single base substitution C T intron_variant MELA-AU 10 50039461 50039461 single base substitution G A intron_variant MELA-AU 10 50039535 50039535 single base substitution C T intron_variant MELA-AU 10 50039583 50039583 single base substitution C T intron_variant MELA-AU 10 50039754 50039754 single base substitution G A intron_variant MELA-AU 10 50039760 50039760 single base substitution C T intron_variant MELA-AU 10 50039854 50039854 single base substitution G A intron_variant MELA-AU 10 50040138 50040138 single base substitution G A intron_variant MELA-AU 10 50040205 50040205 single base substitution C T intron_variant MELA-AU 10 50040207 50040207 single base substitution T A intron_variant MELA-AU 10 50040244 50040244 single base substitution C T intron_variant MELA-AU 10 50040351 50040351 single base substitution T A intron_variant MELA-AU 10 50040414 50040414 single base substitution T G intron_variant MELA-AU 10 50040461 50040461 single base substitution A T intron_variant MELA-AU 10 50040644 50040644 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50040644 50040644 single base substitution C T missense_variant R2185C 6553C>T MELA-AU 10 50040644 50040644 single base substitution C T missense_variant R271C 811C>T MELA-AU 10 50040666 50040666 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50040666 50040666 single base substitution G A missense_variant S2192N 6575G>A MELA-AU 10 50040666 50040666 single base substitution G A missense_variant S278N 833G>A MELA-AU 10 50040730 50040730 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50040730 50040730 single base substitution C T synonymous_variant A2213A 6639C>T MELA-AU 10 50040730 50040730 single base substitution C T synonymous_variant A299A 897C>T MELA-AU 10 50040774 50040774 single base substitution C T intron_variant MELA-AU 10 50040821 50040821 single base substitution T A intron_variant MELA-AU 10 50040858 50040858 single base substitution C T intron_variant MELA-AU 10 50041063 50041063 single base substitution T C intron_variant MELA-AU 10 50041122 50041122 single base substitution G A intron_variant MELA-AU 10 50041333 50041333 single base substitution C T intron_variant MELA-AU 10 50041477 50041477 single base substitution A C intron_variant MELA-AU 10 50041479 50041479 single base substitution G A intron_variant MELA-AU 10 50041521 50041521 single base substitution C T intron_variant MELA-AU 10 50041603 50041603 single base substitution G A intron_variant MELA-AU 10 50041647 50041647 single base substitution G A intron_variant MELA-AU 10 50041702 50041702 single base substitution G A intron_variant MELA-AU 10 50041930 50041930 single base substitution C T intron_variant MELA-AU 10 50041945 50041945 single base substitution A G intron_variant MELA-AU 10 50042036 50042036 single base substitution C T intron_variant MELA-AU 10 50042201 50042201 single base substitution C T intron_variant MELA-AU 10 50042337 50042337 single base substitution G A intron_variant MELA-AU 10 50042349 50042349 single base substitution C T intron_variant MELA-AU 10 50042420 50042420 single base substitution C T intron_variant MELA-AU 10 50042438 50042438 single base substitution C T intron_variant MELA-AU 10 50042560 50042560 single base substitution G T intron_variant MELA-AU 10 50042577 50042577 single base substitution C T intron_variant MELA-AU 10 50042742 50042742 single base substitution G A intron_variant MELA-AU 10 50042926 50042926 single base substitution C T intron_variant MELA-AU 10 50042931 50042931 single base substitution G A intron_variant MELA-AU 10 50043183 50043183 single base substitution G A intron_variant MELA-AU 10 50043214 50043214 single base substitution G A intron_variant MELA-AU 10 50043286 50043286 single base substitution G A intron_variant MELA-AU 10 50043329 50043329 single base substitution G A intron_variant MELA-AU 10 50043349 50043349 single base substitution G A intron_variant MELA-AU 10 50043367 50043367 single base substitution C T intron_variant MELA-AU 10 50043505 50043505 single base substitution G A intron_variant MELA-AU 10 50043517 50043517 single base substitution G A intron_variant MELA-AU 10 50043650 50043650 single base substitution A G intron_variant MELA-AU 10 50044012 50044012 single base substitution G A intron_variant MELA-AU 10 50044078 50044078 single base substitution C T intron_variant MELA-AU 10 50044091 50044091 single base substitution C T intron_variant MELA-AU 10 50044173 50044173 single base substitution G A intron_variant MELA-AU 10 50044272 50044272 single base substitution G A intron_variant MELA-AU 10 50044383 50044383 single base substitution T A intron_variant MELA-AU 10 50044397 50044397 single base substitution C T intron_variant MELA-AU 10 50044446 50044446 single base substitution G A intron_variant MELA-AU 10 50044594 50044594 single base substitution C T intron_variant MELA-AU 10 50044611 50044611 single base substitution G A intron_variant MELA-AU 10 50044644 50044644 single base substitution C T intron_variant MELA-AU 10 50044700 50044700 single base substitution C T intron_variant MELA-AU 10 50045253 50045253 single base substitution C T intron_variant MELA-AU 10 50045285 50045286 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 50045470 50045470 single base substitution C T intron_variant MELA-AU 10 50045737 50045737 single base substitution G A intron_variant MELA-AU 10 50045797 50045797 single base substitution C T intron_variant MELA-AU 10 50045863 50045863 single base substitution C T intron_variant MELA-AU 10 50046000 50046000 single base substitution G A intron_variant MELA-AU 10 50046010 50046010 single base substitution G A intron_variant MELA-AU 10 50046020 50046020 single base substitution G A intron_variant MELA-AU 10 50046054 50046054 single base substitution G A intron_variant MELA-AU 10 50046131 50046131 single base substitution C A intron_variant MELA-AU 10 50046159 50046159 single base substitution G A intron_variant MELA-AU 10 50046190 50046190 single base substitution C T intron_variant MELA-AU 10 50046228 50046228 single base substitution G A intron_variant MELA-AU 10 50046289 50046289 single base substitution T C intron_variant MELA-AU 10 50046358 50046358 single base substitution G A intron_variant MELA-AU 10 50046583 50046583 single base substitution C T intron_variant MELA-AU 10 50046752 50046752 single base substitution C T intron_variant MELA-AU 10 50046795 50046795 single base substitution C T intron_variant MELA-AU 10 50046805 50046805 single base substitution C T intron_variant MELA-AU 10 50046808 50046808 single base substitution G C intron_variant MELA-AU 10 50046828 50046828 single base substitution T C intron_variant MELA-AU 10 50046990 50046990 single base substitution G A intron_variant MELA-AU 10 50047048 50047048 single base substitution G A intron_variant MELA-AU 10 50047061 50047061 single base substitution A G intron_variant MELA-AU 10 50047159 50047159 single base substitution C T intron_variant MELA-AU 10 50047256 50047256 single base substitution G A intron_variant MELA-AU 10 50047297 50047297 single base substitution G A intron_variant MELA-AU 10 50047447 50047447 single base substitution C T intron_variant MELA-AU 10 50047718 50047718 single base substitution G A intron_variant MELA-AU 10 50048005 50048005 single base substitution C T intron_variant MELA-AU 10 50048231 50048231 single base substitution C T intron_variant MELA-AU 10 50048294 50048294 single base substitution C T intron_variant MELA-AU 10 50048346 50048346 single base substitution G A intron_variant MELA-AU 10 50048347 50048347 single base substitution G A intron_variant MELA-AU 10 50048372 50048372 single base substitution G A intron_variant MELA-AU 10 50048379 50048379 single base substitution G A intron_variant MELA-AU 10 50048825 50048825 single base substitution C T intron_variant MELA-AU 10 50048983 50048983 single base substitution G A intron_variant MELA-AU 10 50049355 50049355 single base substitution G A intron_variant MELA-AU 10 50049541 50049541 single base substitution T C intron_variant MELA-AU 10 50049683 50049683 single base substitution C T intron_variant MELA-AU 10 50049684 50049684 single base substitution C T intron_variant MELA-AU 10 50049761 50049761 single base substitution C T intron_variant MELA-AU 10 50049859 50049859 single base substitution G A intron_variant MELA-AU 10 50049946 50049946 single base substitution C T intron_variant MELA-AU 10 50049959 50049959 single base substitution G A intron_variant MELA-AU 10 50050027 50050027 single base substitution G A intron_variant MELA-AU 10 50050065 50050065 single base substitution C A intron_variant MELA-AU 10 50050114 50050114 single base substitution C T intron_variant MELA-AU 10 50050120 50050120 single base substitution C T intron_variant MELA-AU 10 50050222 50050222 single base substitution A G intron_variant MELA-AU 10 50050394 50050394 single base substitution C T intron_variant MELA-AU 10 50050439 50050439 single base substitution C T intron_variant MELA-AU 10 50050516 50050516 single base substitution C T intron_variant MELA-AU 10 50050573 50050573 single base substitution C T intron_variant MELA-AU 10 50050713 50050713 single base substitution C T intron_variant MELA-AU 10 50050988 50050988 single base substitution C T intron_variant MELA-AU 10 50051086 50051086 single base substitution G A intron_variant MELA-AU 10 50051125 50051125 single base substitution C T intron_variant MELA-AU 10 50051165 50051165 single base substitution C T intron_variant MELA-AU 10 50051268 50051268 single base substitution T C intron_variant MELA-AU 10 50051545 50051545 single base substitution T C intron_variant MELA-AU 10 50051712 50051712 single base substitution G A intron_variant MELA-AU 10 50052148 50052148 single base substitution G A intron_variant MELA-AU 10 50052242 50052242 single base substitution C T intron_variant MELA-AU 10 50052257 50052257 single base substitution G A intron_variant MELA-AU 10 50052519 50052519 single base substitution C T intron_variant MELA-AU 10 50052531 50052531 single base substitution G A intron_variant MELA-AU 10 50052557 50052557 single base substitution A C intron_variant MELA-AU 10 50052586 50052586 single base substitution G A intron_variant MELA-AU 10 50052648 50052648 single base substitution G A intron_variant MELA-AU 10 50052711 50052711 single base substitution C T intron_variant MELA-AU 10 50052728 50052728 single base substitution G A intron_variant MELA-AU 10 50052889 50052889 single base substitution G A intron_variant MELA-AU 10 50052990 50052990 single base substitution G A intron_variant MELA-AU 10 50053011 50053011 single base substitution G A intron_variant MELA-AU 10 50053054 50053054 single base substitution C T intron_variant MELA-AU 10 50053063 50053063 single base substitution A G intron_variant MELA-AU 10 50053070 50053070 single base substitution G A intron_variant MELA-AU 10 50053184 50053184 single base substitution G A intron_variant MELA-AU 10 50053388 50053388 single base substitution G A intron_variant MELA-AU 10 50053394 50053394 single base substitution C T intron_variant MELA-AU 10 50053585 50053585 single base substitution G A intron_variant MELA-AU 10 50053613 50053613 single base substitution G A intron_variant MELA-AU 10 50053813 50053813 single base substitution G A intron_variant MELA-AU 10 50053849 50053849 single base substitution G A intron_variant MELA-AU 10 50053975 50053975 single base substitution C T intron_variant MELA-AU 10 50054019 50054019 single base substitution G A intron_variant MELA-AU 10 50054242 50054242 single base substitution C T intron_variant MELA-AU 10 50054580 50054580 single base substitution G A intron_variant MELA-AU 10 50054596 50054596 single base substitution G A intron_variant MELA-AU 10 50054619 50054619 single base substitution C T intron_variant MELA-AU 10 50054791 50054791 single base substitution G A intron_variant MELA-AU 10 50054794 50054794 single base substitution G A intron_variant MELA-AU 10 50054952 50054952 single base substitution G A intron_variant MELA-AU 10 50054959 50054959 single base substitution G A intron_variant MELA-AU 10 50054964 50054964 single base substitution G A intron_variant MELA-AU 10 50054964 50054964 single base substitution G C intron_variant MELA-AU 10 50054980 50054980 single base substitution C T intron_variant MELA-AU 10 50055070 50055070 single base substitution C T intron_variant MELA-AU 10 50055175 50055175 single base substitution G A intron_variant MELA-AU 10 50055198 50055198 single base substitution C T intron_variant MELA-AU 10 50055210 50055210 single base substitution C T intron_variant MELA-AU 10 50055406 50055406 single base substitution T A intron_variant MELA-AU 10 50055422 50055422 single base substitution G A intron_variant MELA-AU 10 50055447 50055447 single base substitution C T intron_variant MELA-AU 10 50055482 50055482 single base substitution G A intron_variant MELA-AU 10 50055573 50055573 single base substitution C T intron_variant MELA-AU 10 50055884 50055884 single base substitution G A intron_variant MELA-AU 10 50055935 50055935 single base substitution G A intron_variant MELA-AU 10 50055963 50055963 single base substitution G A intron_variant MELA-AU 10 50056026 50056026 single base substitution G A intron_variant MELA-AU 10 50056065 50056065 single base substitution C T intron_variant MELA-AU 10 50056079 50056079 single base substitution C T intron_variant MELA-AU 10 50056128 50056128 single base substitution T A intron_variant MELA-AU 10 50056290 50056290 single base substitution G A intron_variant MELA-AU 10 50056312 50056312 single base substitution G A intron_variant MELA-AU 10 50056390 50056390 single base substitution C T intron_variant MELA-AU 10 50056510 50056510 single base substitution G A intron_variant MELA-AU 10 50056591 50056591 single base substitution G A intron_variant MELA-AU 10 50056637 50056637 single base substitution G A intron_variant MELA-AU 10 50056727 50056727 single base substitution C T intron_variant MELA-AU 10 50056730 50056730 single base substitution G A intron_variant MELA-AU 10 50056785 50056785 single base substitution G A intron_variant MELA-AU 10 50056846 50056846 single base substitution G A intron_variant MELA-AU 10 50056912 50056912 single base substitution C T intron_variant MELA-AU 10 50057069 50057069 single base substitution C T intron_variant MELA-AU 10 50057147 50057147 single base substitution G A intron_variant MELA-AU 10 50057193 50057193 single base substitution C T intron_variant MELA-AU 10 50057200 50057200 single base substitution G A intron_variant MELA-AU 10 50057528 50057528 single base substitution A G intron_variant MELA-AU 10 50057580 50057580 single base substitution G A intron_variant MELA-AU 10 50057593 50057593 single base substitution C A intron_variant MELA-AU 10 50058053 50058053 single base substitution C T intron_variant MELA-AU 10 50058073 50058073 single base substitution G A intron_variant MELA-AU 10 50058203 50058203 single base substitution C T intron_variant MELA-AU 10 50058314 50058314 single base substitution G A intron_variant MELA-AU 10 50058315 50058315 single base substitution G A intron_variant MELA-AU 10 50058352 50058352 single base substitution G A intron_variant MELA-AU 10 50058353 50058353 single base substitution G A intron_variant MELA-AU 10 50058542 50058542 single base substitution C T intron_variant MELA-AU 10 50058825 50058825 single base substitution G A intron_variant MELA-AU 10 50058828 50058828 single base substitution A C intron_variant MELA-AU 10 50058874 50058874 single base substitution T A intron_variant MELA-AU 10 50058901 50058901 single base substitution G A intron_variant MELA-AU 10 50059122 50059122 single base substitution G A intron_variant MELA-AU 10 50059205 50059205 single base substitution C T intron_variant MELA-AU 10 50059234 50059234 single base substitution G A intron_variant MELA-AU 10 50059279 50059279 single base substitution G A intron_variant MELA-AU 10 50059308 50059308 single base substitution C T intron_variant MELA-AU 10 50059394 50059394 single base substitution G A intron_variant MELA-AU 10 50059428 50059428 single base substitution C T intron_variant MELA-AU 10 50059438 50059438 single base substitution C T intron_variant MELA-AU 10 50059548 50059548 single base substitution C T intron_variant MELA-AU 10 50059560 50059560 single base substitution C T intron_variant MELA-AU 10 50059735 50059735 single base substitution T A intron_variant MELA-AU 10 50059764 50059764 single base substitution C T intron_variant MELA-AU 10 50059872 50059872 single base substitution C T intron_variant MELA-AU 10 50059895 50059895 single base substitution C T intron_variant MELA-AU 10 50059945 50059945 single base substitution C T intron_variant MELA-AU 10 50060006 50060006 single base substitution C T intron_variant MELA-AU 10 50060107 50060107 single base substitution C T intron_variant MELA-AU 10 50060173 50060173 single base substitution C T intron_variant MELA-AU 10 50060186 50060186 single base substitution C T intron_variant MELA-AU 10 50060189 50060189 single base substitution C T intron_variant MELA-AU 10 50060272 50060272 single base substitution G A intron_variant MELA-AU 10 50060325 50060325 single base substitution C T intron_variant MELA-AU 10 50060360 50060360 single base substitution C T intron_variant MELA-AU 10 50060361 50060361 single base substitution C T intron_variant MELA-AU 10 50060373 50060373 single base substitution C T intron_variant MELA-AU 10 50060422 50060422 single base substitution G A intron_variant MELA-AU 10 50060425 50060425 single base substitution A G intron_variant MELA-AU 10 50060693 50060693 single base substitution G A intron_variant MELA-AU 10 50060786 50060786 single base substitution G A intron_variant MELA-AU 10 50060849 50060849 single base substitution C T intron_variant MELA-AU 10 50060878 50060878 single base substitution C T intron_variant MELA-AU 10 50061016 50061016 single base substitution G A intron_variant MELA-AU 10 50061139 50061139 single base substitution C T intron_variant MELA-AU 10 50061250 50061250 single base substitution C T intron_variant MELA-AU 10 50061263 50061263 single base substitution C T intron_variant MELA-AU 10 50061421 50061421 single base substitution C T intron_variant MELA-AU 10 50061441 50061441 single base substitution C T intron_variant MELA-AU 10 50061461 50061461 single base substitution G A intron_variant MELA-AU 10 50061478 50061478 single base substitution C T intron_variant MELA-AU 10 50061539 50061539 single base substitution G A intron_variant MELA-AU 10 50061606 50061606 single base substitution G A intron_variant MELA-AU 10 50061632 50061632 single base substitution C T intron_variant MELA-AU 10 50061634 50061634 single base substitution T A intron_variant MELA-AU 10 50061800 50061800 single base substitution C T intron_variant MELA-AU 10 50061874 50061874 single base substitution C T intron_variant MELA-AU 10 50061926 50061926 single base substitution C T intron_variant MELA-AU 10 50061929 50061929 single base substitution C T intron_variant MELA-AU 10 50061945 50061945 single base substitution G A intron_variant MELA-AU 10 50062013 50062013 single base substitution G A intron_variant MELA-AU 10 50062045 50062045 single base substitution G A intron_variant MELA-AU 10 50062143 50062143 single base substitution G A intron_variant MELA-AU 10 50062204 50062204 single base substitution G A intron_variant MELA-AU 10 50062218 50062218 single base substitution G A intron_variant MELA-AU 10 50062268 50062268 single base substitution C T intron_variant MELA-AU 10 50062405 50062405 single base substitution C T intron_variant MELA-AU 10 50062451 50062451 single base substitution G A intron_variant MELA-AU 10 50062512 50062512 single base substitution G A intron_variant MELA-AU 10 50062524 50062524 single base substitution G A intron_variant MELA-AU 10 50062551 50062551 single base substitution C T intron_variant MELA-AU 10 50062642 50062642 single base substitution T C intron_variant MELA-AU 10 50062769 50062769 single base substitution C T intron_variant MELA-AU 10 50062770 50062770 single base substitution C T intron_variant MELA-AU 10 50062825 50062825 single base substitution C T intron_variant MELA-AU 10 50062854 50062854 single base substitution C T intron_variant MELA-AU 10 50062989 50062989 single base substitution G A intron_variant MELA-AU 10 50063128 50063128 single base substitution G A intron_variant MELA-AU 10 50063136 50063136 single base substitution C T intron_variant MELA-AU 10 50063142 50063142 single base substitution C T intron_variant MELA-AU 10 50063143 50063143 single base substitution C T intron_variant MELA-AU 10 50063171 50063171 single base substitution T A intron_variant MELA-AU 10 50063178 50063178 single base substitution G A intron_variant MELA-AU 10 50063251 50063251 single base substitution G A intron_variant MELA-AU 10 50063446 50063446 single base substitution G A intron_variant MELA-AU 10 50063453 50063453 single base substitution C T intron_variant MELA-AU 10 50063607 50063607 single base substitution G A intron_variant MELA-AU 10 50063714 50063714 single base substitution T G intron_variant MELA-AU 10 50063810 50063810 single base substitution T C intron_variant MELA-AU 10 50064075 50064075 single base substitution G A intron_variant MELA-AU 10 50064230 50064230 single base substitution G A intron_variant MELA-AU 10 50064255 50064255 single base substitution C T intron_variant MELA-AU 10 50064341 50064341 single base substitution G A intron_variant MELA-AU 10 50064644 50064644 single base substitution C T intron_variant MELA-AU 10 50064894 50064894 single base substitution G A intron_variant MELA-AU 10 50065090 50065090 single base substitution G A intron_variant MELA-AU 10 50065166 50065166 single base substitution C T intron_variant MELA-AU 10 50065196 50065196 single base substitution G A intron_variant MELA-AU 10 50065222 50065222 single base substitution C T intron_variant MELA-AU 10 50065376 50065376 single base substitution G A intron_variant MELA-AU 10 50065394 50065394 single base substitution C T intron_variant MELA-AU 10 50065412 50065412 single base substitution T C intron_variant MELA-AU 10 50065529 50065529 single base substitution G A intron_variant MELA-AU 10 50065718 50065718 single base substitution C T intron_variant MELA-AU 10 50065784 50065784 single base substitution T A intron_variant MELA-AU 10 50065809 50065809 single base substitution C T intron_variant MELA-AU 10 50065944 50065944 single base substitution C T intron_variant MELA-AU 10 50065972 50065972 single base substitution G A intron_variant MELA-AU 10 50066035 50066035 single base substitution C T intron_variant MELA-AU 10 50066147 50066147 single base substitution G A intron_variant MELA-AU 10 50066352 50066352 single base substitution C T intron_variant MELA-AU 10 50066359 50066359 single base substitution A C intron_variant MELA-AU 10 50066373 50066373 single base substitution C T intron_variant MELA-AU 10 50066447 50066447 single base substitution G A intron_variant MELA-AU 10 50066566 50066566 single base substitution G A intron_variant MELA-AU 10 50066675 50066675 single base substitution C T intron_variant MELA-AU 10 50066736 50066736 single base substitution C T intron_variant MELA-AU 10 50066743 50066743 single base substitution C T intron_variant MELA-AU 10 50066894 50066894 single base substitution C T intron_variant MELA-AU 10 50066896 50066896 single base substitution T A intron_variant MELA-AU 10 50066961 50066961 single base substitution A C intron_variant MELA-AU 10 50066993 50066993 single base substitution C T intron_variant MELA-AU 10 50067145 50067145 single base substitution G A intron_variant MELA-AU 10 50067500 50067500 single base substitution C T intron_variant MELA-AU 10 50067613 50067613 single base substitution C T intron_variant MELA-AU 10 50067716 50067716 single base substitution C T intron_variant MELA-AU 10 50067791 50067791 single base substitution C T intron_variant MELA-AU 10 50067877 50067877 single base substitution G A intron_variant MELA-AU 10 50067990 50067990 single base substitution G A intron_variant MELA-AU 10 50068092 50068092 single base substitution C T intron_variant MELA-AU 10 50068123 50068123 single base substitution C T intron_variant MELA-AU 10 50068153 50068153 single base substitution T C intron_variant MELA-AU 10 50068196 50068196 single base substitution C T intron_variant MELA-AU 10 50068216 50068216 single base substitution T A intron_variant MELA-AU 10 50068269 50068269 single base substitution C T intron_variant MELA-AU 10 50068284 50068284 single base substitution C T intron_variant MELA-AU 10 50068415 50068415 single base substitution C T intron_variant MELA-AU 10 50068429 50068429 single base substitution C T intron_variant MELA-AU 10 50068517 50068517 single base substitution C T intron_variant MELA-AU 10 50068628 50068628 single base substitution G A intron_variant MELA-AU 10 50068641 50068641 single base substitution G A intron_variant MELA-AU 10 50068798 50068798 single base substitution T A intron_variant MELA-AU 10 50068821 50068821 insertion of <=200bp - T intron_variant MELA-AU 10 50068962 50068962 single base substitution G A intron_variant MELA-AU 10 50069082 50069082 deletion of <=200bp T - intron_variant MELA-AU 10 50069091 50069091 single base substitution C T intron_variant MELA-AU 10 50069359 50069359 single base substitution G A intron_variant MELA-AU 10 50069569 50069569 single base substitution C T intron_variant MELA-AU 10 50069593 50069593 single base substitution G A intron_variant MELA-AU 10 50069709 50069709 single base substitution C T intron_variant MELA-AU 10 50069728 50069728 single base substitution G A intron_variant MELA-AU 10 50069858 50069858 single base substitution G A intron_variant MELA-AU 10 50069884 50069884 single base substitution C T intron_variant MELA-AU 10 50069929 50069929 single base substitution C T intron_variant MELA-AU 10 50070002 50070002 single base substitution C T intron_variant MELA-AU 10 50070158 50070158 single base substitution G A intron_variant MELA-AU 10 50070195 50070195 single base substitution C T intron_variant MELA-AU 10 50070289 50070289 single base substitution G A intron_variant MELA-AU 10 50070315 50070315 single base substitution T C intron_variant MELA-AU 10 50070343 50070343 single base substitution C T intron_variant MELA-AU 10 50070554 50070554 single base substitution G A intron_variant MELA-AU 10 50070652 50070652 single base substitution C T intron_variant MELA-AU 10 50070658 50070658 single base substitution A T intron_variant MELA-AU 10 50070756 50070756 single base substitution C T intron_variant MELA-AU 10 50070849 50070849 single base substitution C T intron_variant MELA-AU 10 50070858 50070858 single base substitution C T intron_variant MELA-AU 10 50070929 50070929 single base substitution C T intron_variant MELA-AU 10 50070974 50070974 single base substitution C T intron_variant MELA-AU 10 50071168 50071168 single base substitution C T intron_variant MELA-AU 10 50071172 50071172 single base substitution C T intron_variant MELA-AU 10 50071263 50071263 single base substitution G A intron_variant MELA-AU 10 50071297 50071297 single base substitution C T intron_variant MELA-AU 10 50071349 50071349 single base substitution C T intron_variant MELA-AU 10 50071516 50071516 single base substitution C T intron_variant MELA-AU 10 50071673 50071673 single base substitution T A intron_variant MELA-AU 10 50071679 50071679 single base substitution C T intron_variant MELA-AU 10 50071772 50071772 single base substitution C T intron_variant MELA-AU 10 50071790 50071790 single base substitution A G intron_variant MELA-AU 10 50071830 50071830 single base substitution G A intron_variant MELA-AU 10 50071872 50071872 single base substitution G A intron_variant MELA-AU 10 50071906 50071906 single base substitution C T intron_variant MELA-AU 10 50071937 50071937 single base substitution G T intron_variant MELA-AU 10 50072063 50072063 single base substitution C T intron_variant MELA-AU 10 50072065 50072065 single base substitution C T intron_variant MELA-AU 10 50072098 50072098 single base substitution G A intron_variant MELA-AU 10 50072148 50072148 single base substitution C T intron_variant MELA-AU 10 50072214 50072214 single base substitution C T intron_variant MELA-AU 10 50072285 50072285 single base substitution C T intron_variant MELA-AU 10 50072330 50072330 single base substitution C T intron_variant MELA-AU 10 50072590 50072590 single base substitution G A intron_variant MELA-AU 10 50072612 50072612 single base substitution C T intron_variant MELA-AU 10 50072613 50072613 single base substitution C T intron_variant MELA-AU 10 50072704 50072704 single base substitution G A intron_variant MELA-AU 10 50072825 50072825 single base substitution C T intron_variant MELA-AU 10 50072855 50072855 single base substitution C T intron_variant MELA-AU 10 50073020 50073021 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 50073021 50073021 single base substitution G A intron_variant MELA-AU 10 50073282 50073282 single base substitution C T intron_variant MELA-AU 10 50073308 50073308 single base substitution T A intron_variant MELA-AU 10 50073312 50073312 single base substitution G C intron_variant MELA-AU 10 50073364 50073364 single base substitution G A intron_variant MELA-AU 10 50073394 50073394 single base substitution C T intron_variant MELA-AU 10 50073594 50073594 single base substitution C T intron_variant MELA-AU 10 50073710 50073710 single base substitution G A intron_variant MELA-AU 10 50073745 50073745 single base substitution C T intron_variant MELA-AU 10 50073953 50073953 single base substitution C T intron_variant MELA-AU 10 50074021 50074021 single base substitution T C intron_variant MELA-AU 10 50074109 50074109 single base substitution T A intron_variant MELA-AU 10 50074172 50074172 single base substitution T C intron_variant MELA-AU 10 50074189 50074189 single base substitution T A intron_variant MELA-AU 10 50074195 50074195 single base substitution C T intron_variant MELA-AU 10 50074213 50074213 single base substitution G A intron_variant MELA-AU 10 50074282 50074282 single base substitution C T intron_variant MELA-AU 10 50074365 50074365 single base substitution G A intron_variant MELA-AU 10 50074507 50074507 single base substitution C T intron_variant MELA-AU 10 50074566 50074566 single base substitution T C intron_variant MELA-AU 10 50074728 50074728 single base substitution C T intron_variant MELA-AU 10 50074737 50074737 single base substitution G A intron_variant MELA-AU 10 50074766 50074766 single base substitution C T intron_variant MELA-AU 10 50075039 50075039 single base substitution A G intron_variant MELA-AU 10 50075045 50075045 single base substitution T A intron_variant MELA-AU 10 50075087 50075087 single base substitution C T intron_variant MELA-AU 10 50075097 50075097 single base substitution C T intron_variant MELA-AU 10 50075138 50075138 single base substitution C T intron_variant MELA-AU 10 50075183 50075183 single base substitution C T intron_variant MELA-AU 10 50075227 50075227 single base substitution A G intron_variant MELA-AU 10 50075352 50075352 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50075352 50075352 single base substitution G A missense_variant E2236K 6706G>A MELA-AU 10 50075352 50075352 single base substitution G A missense_variant E322K 964G>A MELA-AU 10 50075526 50075526 single base substitution C A intron_variant MELA-AU 10 50075648 50075648 single base substitution G A intron_variant MELA-AU 10 50075852 50075852 single base substitution A T intron_variant MELA-AU 10 50075905 50075905 single base substitution G A intron_variant MELA-AU 10 50075930 50075930 single base substitution C T intron_variant MELA-AU 10 50075958 50075958 single base substitution A C intron_variant MELA-AU 10 50075962 50075962 single base substitution A T intron_variant MELA-AU 10 50076015 50076015 single base substitution G A intron_variant MELA-AU 10 50076038 50076038 single base substitution C T intron_variant MELA-AU 10 50076221 50076221 single base substitution C T intron_variant MELA-AU 10 50076229 50076229 single base substitution A G intron_variant MELA-AU 10 50076422 50076422 single base substitution C T intron_variant MELA-AU 10 50076487 50076487 single base substitution G A intron_variant MELA-AU 10 50076642 50076642 single base substitution C T intron_variant MELA-AU 10 50076661 50076661 single base substitution G A intron_variant MELA-AU 10 50076683 50076683 single base substitution G A intron_variant MELA-AU 10 50076686 50076686 single base substitution G A intron_variant MELA-AU 10 50076798 50076798 single base substitution C T intron_variant MELA-AU 10 50076821 50076821 single base substitution C T intron_variant MELA-AU 10 50076887 50076887 single base substitution G A intron_variant MELA-AU 10 50076907 50076907 single base substitution G A intron_variant MELA-AU 10 50076926 50076926 single base substitution G A intron_variant MELA-AU 10 50076959 50076959 single base substitution G A intron_variant MELA-AU 10 50077026 50077026 single base substitution G A intron_variant MELA-AU 10 50077034 50077034 single base substitution G A intron_variant MELA-AU 10 50077051 50077051 single base substitution C T intron_variant MELA-AU 10 50077105 50077105 single base substitution G A intron_variant MELA-AU 10 50077113 50077113 single base substitution C T intron_variant MELA-AU 10 50077288 50077288 single base substitution G A intron_variant MELA-AU 10 50077302 50077302 single base substitution G A intron_variant MELA-AU 10 50077377 50077377 single base substitution G C intron_variant MELA-AU 10 50077624 50077624 single base substitution G A intron_variant MELA-AU 10 50077685 50077685 single base substitution C T intron_variant MELA-AU 10 50077697 50077697 single base substitution G A intron_variant MELA-AU 10 50077706 50077706 single base substitution C T intron_variant MELA-AU 10 50077759 50077759 single base substitution C T intron_variant MELA-AU 10 50077861 50077861 single base substitution C T intron_variant MELA-AU 10 50077889 50077889 single base substitution C T intron_variant MELA-AU 10 50077907 50077907 single base substitution T A intron_variant MELA-AU 10 50078094 50078094 single base substitution C T intron_variant MELA-AU 10 50078104 50078104 single base substitution G A intron_variant MELA-AU 10 50078151 50078151 single base substitution G A intron_variant MELA-AU 10 50078177 50078177 single base substitution C T intron_variant MELA-AU 10 50078228 50078228 single base substitution G A intron_variant MELA-AU 10 50078275 50078275 single base substitution T C intron_variant MELA-AU 10 50078373 50078373 single base substitution G A intron_variant MELA-AU 10 50078443 50078443 single base substitution C T intron_variant MELA-AU 10 50078490 50078490 single base substitution G A intron_variant MELA-AU 10 50078571 50078571 single base substitution C T intron_variant MELA-AU 10 50078585 50078585 single base substitution A T intron_variant MELA-AU 10 50078655 50078655 single base substitution C T intron_variant MELA-AU 10 50078757 50078757 single base substitution A C intron_variant MELA-AU 10 50078783 50078783 single base substitution C T intron_variant MELA-AU 10 50078970 50078970 single base substitution G A intron_variant MELA-AU 10 50079009 50079009 single base substitution C T intron_variant MELA-AU 10 50079018 50079018 single base substitution C T intron_variant MELA-AU 10 50079027 50079027 single base substitution G A intron_variant MELA-AU 10 50079173 50079173 single base substitution G A intron_variant MELA-AU 10 50079201 50079201 single base substitution C T intron_variant MELA-AU 10 50079215 50079215 single base substitution C T intron_variant MELA-AU 10 50079406 50079406 single base substitution C T intron_variant MELA-AU 10 50079497 50079497 single base substitution T C intron_variant MELA-AU 10 50079516 50079516 single base substitution C T intron_variant MELA-AU 10 50079764 50079764 single base substitution C T intron_variant MELA-AU 10 50079767 50079767 single base substitution C T intron_variant MELA-AU 10 50079774 50079774 single base substitution G A intron_variant MELA-AU 10 50079788 50079788 single base substitution C T intron_variant MELA-AU 10 50079944 50079944 single base substitution G A intron_variant MELA-AU 10 50080042 50080042 single base substitution G A intron_variant MELA-AU 10 50080096 50080096 single base substitution G A intron_variant MELA-AU 10 50080125 50080125 single base substitution G A intron_variant MELA-AU 10 50080126 50080126 single base substitution G A intron_variant MELA-AU 10 50080203 50080203 single base substitution T C intron_variant MELA-AU 10 50080362 50080362 single base substitution G A intron_variant MELA-AU 10 50080463 50080463 single base substitution G A intron_variant MELA-AU 10 50080967 50080967 single base substitution C T intron_variant MELA-AU 10 50080973 50080973 single base substitution G A intron_variant MELA-AU 10 50081038 50081038 single base substitution T C intron_variant MELA-AU 10 50081136 50081136 single base substitution G A intron_variant MELA-AU 10 50081167 50081167 single base substitution G A intron_variant MELA-AU 10 50081188 50081188 single base substitution C T intron_variant MELA-AU 10 50081193 50081193 single base substitution C T intron_variant MELA-AU 10 50081194 50081194 single base substitution C T intron_variant MELA-AU 10 50081303 50081303 single base substitution G A intron_variant MELA-AU 10 50081400 50081400 single base substitution C T intron_variant MELA-AU 10 50081437 50081437 single base substitution C T intron_variant MELA-AU 10 50081626 50081626 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50081626 50081626 single base substitution G A missense_variant E2278K 6832G>A MELA-AU 10 50081626 50081626 single base substitution G A missense_variant E364K 1090G>A MELA-AU 10 50081647 50081647 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50081647 50081647 single base substitution C T missense_variant P2285S 6853C>T MELA-AU 10 50081647 50081647 single base substitution C T missense_variant P371S 1111C>T MELA-AU 10 50081794 50081794 single base substitution G A intron_variant MELA-AU 10 50082170 50082170 single base substitution C T intron_variant MELA-AU 10 50082285 50082285 single base substitution C T intron_variant MELA-AU 10 50082330 50082330 single base substitution T C intron_variant MELA-AU 10 50082368 50082368 single base substitution C T intron_variant MELA-AU 10 50082387 50082387 single base substitution G A intron_variant MELA-AU 10 50082407 50082407 single base substitution C T intron_variant MELA-AU 10 50082441 50082441 single base substitution C T intron_variant MELA-AU 10 50082522 50082522 single base substitution C T intron_variant MELA-AU 10 50082534 50082534 single base substitution A G intron_variant MELA-AU 10 50082564 50082564 single base substitution C T intron_variant MELA-AU 10 50082596 50082596 single base substitution C T intron_variant MELA-AU 10 50082683 50082683 single base substitution G A intron_variant MELA-AU 10 50082842 50082842 single base substitution G A intron_variant MELA-AU 10 50082912 50082912 single base substitution G A intron_variant MELA-AU 10 50082931 50082931 single base substitution C T intron_variant MELA-AU 10 50083054 50083054 single base substitution G A intron_variant MELA-AU 10 50083134 50083134 single base substitution G A missense_variant E2317K 6949G>A MELA-AU 10 50083134 50083134 single base substitution G A missense_variant E403K 1207G>A MELA-AU 10 50083134 50083134 single base substitution G A splice_region_variant MELA-AU 10 50083208 50083208 single base substitution C T intron_variant MELA-AU 10 50083391 50083391 single base substitution G T intron_variant MELA-AU 10 50083397 50083397 single base substitution A G intron_variant MELA-AU 10 50083449 50083449 single base substitution G A intron_variant MELA-AU 10 50083464 50083464 single base substitution C T intron_variant MELA-AU 10 50083484 50083484 single base substitution G A intron_variant MELA-AU 10 50083506 50083506 single base substitution C T intron_variant MELA-AU 10 50083569 50083569 single base substitution C A intron_variant MELA-AU 10 50083701 50083701 single base substitution C T intron_variant MELA-AU 10 50083794 50083794 single base substitution C T intron_variant MELA-AU 10 50083864 50083864 single base substitution G A intron_variant MELA-AU 10 50083918 50083918 single base substitution G A intron_variant MELA-AU 10 50083926 50083926 single base substitution G A intron_variant MELA-AU 10 50083985 50083985 single base substitution G A intron_variant MELA-AU 10 50084154 50084154 single base substitution C T intron_variant MELA-AU 10 50084166 50084166 single base substitution C A intron_variant MELA-AU 10 50084189 50084189 single base substitution G A intron_variant MELA-AU 10 50084234 50084234 single base substitution C T intron_variant MELA-AU 10 50084249 50084249 single base substitution G A intron_variant MELA-AU 10 50084250 50084250 single base substitution G A intron_variant MELA-AU 10 50084313 50084313 single base substitution G A intron_variant MELA-AU 10 50084353 50084353 single base substitution G A intron_variant MELA-AU 10 50084741 50084741 single base substitution C T intron_variant MELA-AU 10 50084851 50084851 single base substitution C T intron_variant MELA-AU 10 50084870 50084870 single base substitution G A intron_variant MELA-AU 10 50084938 50084938 single base substitution G A intron_variant MELA-AU 10 50084996 50084996 single base substitution G A intron_variant MELA-AU 10 50085043 50085043 single base substitution C T intron_variant MELA-AU 10 50085080 50085080 single base substitution G A missense_variant E2335K 7003G>A MELA-AU 10 50085080 50085080 single base substitution G A missense_variant E421K 1261G>A MELA-AU 10 50085080 50085080 single base substitution G A splice_region_variant MELA-AU 10 50085107 50085107 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50085107 50085107 single base substitution G A missense_variant E2344K 7030G>A MELA-AU 10 50085107 50085107 single base substitution G A missense_variant E430K 1288G>A MELA-AU 10 50085164 50085164 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50085164 50085164 single base substitution G A missense_variant E2363K 7087G>A MELA-AU 10 50085164 50085164 single base substitution G A missense_variant E449K 1345G>A MELA-AU 10 50085203 50085203 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50085203 50085203 single base substitution G A missense_variant E2376K 7126G>A MELA-AU 10 50085203 50085203 single base substitution G A missense_variant E462K 1384G>A MELA-AU 10 50085244 50085244 single base substitution G A splice_region_variant MELA-AU 10 50085355 50085355 single base substitution T A intron_variant MELA-AU 10 50085386 50085386 single base substitution G A intron_variant MELA-AU 10 50085452 50085452 single base substitution C T intron_variant MELA-AU 10 50085494 50085494 single base substitution G A intron_variant MELA-AU 10 50085694 50085694 single base substitution C T intron_variant MELA-AU 10 50085808 50085808 single base substitution G A intron_variant MELA-AU 10 50085824 50085824 single base substitution G A intron_variant MELA-AU 10 50085901 50085901 single base substitution G A intron_variant MELA-AU 10 50085904 50085904 single base substitution G T intron_variant MELA-AU 10 50085982 50085982 single base substitution G A intron_variant MELA-AU 10 50086112 50086112 single base substitution G A intron_variant MELA-AU 10 50086267 50086267 single base substitution G A intron_variant MELA-AU 10 50086357 50086357 single base substitution C T intron_variant MELA-AU 10 50086472 50086472 single base substitution G A intron_variant MELA-AU 10 50086615 50086615 single base substitution C T intron_variant MELA-AU 10 50086832 50086832 single base substitution C T intron_variant MELA-AU 10 50086928 50086928 single base substitution G A intron_variant MELA-AU 10 50086940 50086940 single base substitution G A intron_variant MELA-AU 10 50086957 50086957 single base substitution C T intron_variant MELA-AU 10 50087020 50087020 single base substitution G C intron_variant MELA-AU 10 50087080 50087080 single base substitution G A intron_variant MELA-AU 10 50087278 50087278 single base substitution G A intron_variant MELA-AU 10 50087351 50087351 single base substitution G A intron_variant MELA-AU 10 50087352 50087352 single base substitution G A intron_variant MELA-AU 10 50087423 50087423 single base substitution G A intron_variant MELA-AU 10 50087443 50087443 single base substitution C T intron_variant MELA-AU 10 50087450 50087450 single base substitution C T intron_variant MELA-AU 10 50087504 50087504 single base substitution C T intron_variant MELA-AU 10 50087827 50087827 single base substitution G A intron_variant MELA-AU 10 50087906 50087906 single base substitution C T intron_variant MELA-AU 10 50088040 50088040 single base substitution C T intron_variant MELA-AU 10 50088118 50088118 single base substitution G A intron_variant MELA-AU 10 50088304 50088304 single base substitution T C intron_variant MELA-AU 10 50088370 50088370 single base substitution C T intron_variant MELA-AU 10 50088408 50088408 single base substitution G A intron_variant MELA-AU 10 50088428 50088428 single base substitution C T intron_variant MELA-AU 10 50088458 50088458 single base substitution G A intron_variant MELA-AU 10 50088464 50088464 single base substitution C T intron_variant MELA-AU 10 50088487 50088487 single base substitution C T intron_variant MELA-AU 10 50088520 50088520 single base substitution C T intron_variant MELA-AU 10 50088540 50088540 single base substitution T G intron_variant MELA-AU 10 50088643 50088643 single base substitution G A intron_variant MELA-AU 10 50088678 50088678 single base substitution G A intron_variant MELA-AU 10 50088692 50088692 single base substitution G A intron_variant MELA-AU 10 50088821 50088821 single base substitution G A intron_variant MELA-AU 10 50088831 50088831 single base substitution G A intron_variant MELA-AU 10 50088866 50088866 single base substitution C T intron_variant MELA-AU 10 50088910 50088910 single base substitution G A intron_variant MELA-AU 10 50089094 50089094 single base substitution G A intron_variant MELA-AU 10 50089128 50089128 single base substitution G A intron_variant MELA-AU 10 50089243 50089243 single base substitution G A intron_variant MELA-AU 10 50089327 50089327 single base substitution G A intron_variant MELA-AU 10 50089332 50089332 single base substitution G A intron_variant MELA-AU 10 50089373 50089373 single base substitution G A intron_variant MELA-AU 10 50089402 50089402 single base substitution G A intron_variant MELA-AU 10 50089467 50089467 single base substitution G A intron_variant MELA-AU 10 50089471 50089471 single base substitution G A intron_variant MELA-AU 10 50089570 50089570 single base substitution G A intron_variant MELA-AU 10 50089580 50089580 single base substitution G A intron_variant MELA-AU 10 50089624 50089624 single base substitution G A intron_variant MELA-AU 10 50089625 50089625 single base substitution G A intron_variant MELA-AU 10 50089708 50089708 single base substitution G A intron_variant MELA-AU 10 50089761 50089761 single base substitution C T intron_variant MELA-AU 10 50089777 50089777 single base substitution G A intron_variant MELA-AU 10 50089955 50089955 single base substitution C T intron_variant MELA-AU 10 50090014 50090014 single base substitution C T intron_variant MELA-AU 10 50090020 50090020 single base substitution G A intron_variant MELA-AU 10 50090037 50090037 single base substitution G A intron_variant MELA-AU 10 50090051 50090051 single base substitution C T intron_variant MELA-AU 10 50090060 50090060 single base substitution C T intron_variant MELA-AU 10 50090066 50090066 single base substitution C T intron_variant MELA-AU 10 50090073 50090073 single base substitution G A intron_variant MELA-AU 10 50090118 50090118 single base substitution C T intron_variant MELA-AU 10 50090139 50090139 single base substitution G A intron_variant MELA-AU 10 50090494 50090494 single base substitution C T intron_variant MELA-AU 10 50090555 50090555 single base substitution G A intron_variant MELA-AU 10 50090663 50090663 single base substitution G A intron_variant MELA-AU 10 50090744 50090744 single base substitution G A intron_variant MELA-AU 10 50090834 50090834 single base substitution G A intron_variant MELA-AU 10 50090870 50090870 single base substitution C T intron_variant MELA-AU 10 50090971 50090971 single base substitution C T intron_variant MELA-AU 10 50091042 50091042 single base substitution C T intron_variant MELA-AU 10 50091275 50091275 single base substitution C T intron_variant MELA-AU 10 50091346 50091346 single base substitution A T intron_variant MELA-AU 10 50091350 50091350 single base substitution G A intron_variant MELA-AU 10 50091536 50091536 single base substitution C T intron_variant MELA-AU 10 50091578 50091578 single base substitution C T intron_variant MELA-AU 10 50091694 50091694 single base substitution C T intron_variant MELA-AU 10 50091961 50091961 single base substitution T A intron_variant MELA-AU 10 50092010 50092010 single base substitution G A intron_variant MELA-AU 10 50092118 50092118 single base substitution G A intron_variant MELA-AU 10 50092125 50092125 single base substitution T C intron_variant MELA-AU 10 50092250 50092250 single base substitution C T intron_variant MELA-AU 10 50092336 50092336 single base substitution T C intron_variant MELA-AU 10 50092341 50092341 single base substitution C G intron_variant MELA-AU 10 50092364 50092364 single base substitution C T intron_variant MELA-AU 10 50092412 50092412 single base substitution C T intron_variant MELA-AU 10 50092413 50092413 single base substitution C T intron_variant MELA-AU 10 50092459 50092459 single base substitution G A intron_variant MELA-AU 10 50092503 50092503 single base substitution T A intron_variant MELA-AU 10 50092728 50092728 single base substitution C T intron_variant MELA-AU 10 50092952 50092952 single base substitution C T intron_variant MELA-AU 10 50093059 50093059 single base substitution G A intron_variant MELA-AU 10 50093354 50093354 single base substitution A G intron_variant MELA-AU 10 50093439 50093439 single base substitution G A intron_variant MELA-AU 10 50093874 50093874 single base substitution G A intron_variant MELA-AU 10 50093910 50093910 single base substitution G A intron_variant MELA-AU 10 50093970 50093970 single base substitution T G intron_variant MELA-AU 10 50094050 50094050 single base substitution G T intron_variant MELA-AU 10 50094079 50094079 single base substitution G A intron_variant MELA-AU 10 50094086 50094086 single base substitution G A intron_variant MELA-AU 10 50094153 50094153 single base substitution G A intron_variant MELA-AU 10 50094216 50094216 single base substitution C T intron_variant MELA-AU 10 50094504 50094504 single base substitution G A intron_variant MELA-AU 10 50094574 50094574 single base substitution A C intron_variant MELA-AU 10 50094614 50094614 single base substitution C T intron_variant MELA-AU 10 50094998 50094998 single base substitution G A intron_variant MELA-AU 10 50095003 50095003 single base substitution G A intron_variant MELA-AU 10 50095048 50095048 single base substitution C T intron_variant MELA-AU 10 50095085 50095085 single base substitution C T intron_variant MELA-AU 10 50095141 50095141 single base substitution C T intron_variant MELA-AU 10 50095187 50095187 single base substitution G A intron_variant MELA-AU 10 50095255 50095255 single base substitution C T intron_variant MELA-AU 10 50095268 50095268 single base substitution G A intron_variant MELA-AU 10 50095331 50095331 single base substitution A T intron_variant MELA-AU 10 50095518 50095518 single base substitution C T intron_variant MELA-AU 10 50095553 50095553 single base substitution G A intron_variant MELA-AU 10 50095606 50095606 single base substitution G A intron_variant MELA-AU 10 50095708 50095708 single base substitution C T intron_variant MELA-AU 10 50095867 50095867 single base substitution C T intron_variant MELA-AU 10 50096044 50096044 single base substitution A C intron_variant MELA-AU 10 50096337 50096338 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 50096345 50096345 single base substitution C T intron_variant MELA-AU 10 50096578 50096578 single base substitution C T intron_variant MELA-AU 10 50096636 50096637 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 50096736 50096736 single base substitution C T intron_variant MELA-AU 10 50096744 50096744 single base substitution C T intron_variant MELA-AU 10 50096745 50096745 single base substitution C T intron_variant MELA-AU 10 50096758 50096758 single base substitution C T intron_variant MELA-AU 10 50096766 50096766 single base substitution G A intron_variant MELA-AU 10 50096867 50096868 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 50096888 50096888 single base substitution C T intron_variant MELA-AU 10 50096947 50096947 single base substitution C T intron_variant MELA-AU 10 50096977 50096977 single base substitution C T intron_variant MELA-AU 10 50096978 50096978 single base substitution C T intron_variant MELA-AU 10 50097028 50097028 single base substitution C A intron_variant MELA-AU 10 50097143 50097143 single base substitution G A intron_variant MELA-AU 10 50097274 50097274 single base substitution G A intron_variant MELA-AU 10 50097280 50097280 single base substitution C A intron_variant MELA-AU 10 50097303 50097303 single base substitution G A intron_variant MELA-AU 10 50097372 50097372 single base substitution G A intron_variant MELA-AU 10 50097527 50097527 single base substitution C T intron_variant MELA-AU 10 50097532 50097532 single base substitution G A intron_variant MELA-AU 10 50097533 50097533 single base substitution G A intron_variant MELA-AU 10 50097605 50097605 single base substitution C T intron_variant MELA-AU 10 50097710 50097710 single base substitution G A intron_variant MELA-AU 10 50097872 50097872 single base substitution C T intron_variant MELA-AU 10 50098037 50098037 single base substitution G A intron_variant MELA-AU 10 50098064 50098065 multiple base substitution (>=2bp and <=200bp) GA AC intron_variant MELA-AU 10 50098092 50098092 single base substitution G A intron_variant MELA-AU 10 50098274 50098274 single base substitution G A intron_variant MELA-AU 10 50098513 50098513 single base substitution C T intron_variant MELA-AU 10 50098562 50098562 single base substitution C T intron_variant MELA-AU 10 50098617 50098617 single base substitution C T splice_region_variant MELA-AU 10 50098689 50098689 single base substitution T C 3_prime_UTR_variant MELA-AU 10 50098689 50098689 single base substitution T C synonymous_variant F2411F 7233T>C MELA-AU 10 50098689 50098689 single base substitution T C synonymous_variant F497F 1491T>C MELA-AU 10 50098710 50098710 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50098710 50098710 single base substitution C T synonymous_variant I2418I 7254C>T MELA-AU 10 50098710 50098710 single base substitution C T synonymous_variant I504I 1512C>T MELA-AU 10 50098801 50098801 single base substitution C T intron_variant MELA-AU 10 50098818 50098818 single base substitution C T intron_variant MELA-AU 10 50098821 50098821 single base substitution C T intron_variant MELA-AU 10 50098845 50098845 single base substitution C T intron_variant MELA-AU 10 50098946 50098946 single base substitution G A intron_variant MELA-AU 10 50098971 50098971 single base substitution G A intron_variant MELA-AU 10 50099205 50099205 single base substitution G A intron_variant MELA-AU 10 50099245 50099245 single base substitution G A intron_variant MELA-AU 10 50099258 50099258 single base substitution A G intron_variant MELA-AU 10 50099258 50099258 single base substitution A T intron_variant MELA-AU 10 50099324 50099324 single base substitution G A intron_variant MELA-AU 10 50099325 50099325 single base substitution G A intron_variant MELA-AU 10 50099618 50099618 single base substitution A G intron_variant MELA-AU 10 50099643 50099643 single base substitution G T intron_variant MELA-AU 10 50099678 50099678 single base substitution G A intron_variant MELA-AU 10 50099742 50099742 single base substitution G A intron_variant MELA-AU 10 50100018 50100018 single base substitution C T intron_variant MELA-AU 10 50100030 50100030 single base substitution C T intron_variant MELA-AU 10 50100270 50100270 single base substitution G A intron_variant MELA-AU 10 50100423 50100423 single base substitution G T intron_variant MELA-AU 10 50100432 50100432 single base substitution C T intron_variant MELA-AU 10 50100489 50100489 single base substitution C A intron_variant MELA-AU 10 50100643 50100643 single base substitution A G intron_variant MELA-AU 10 50100651 50100651 single base substitution C T intron_variant MELA-AU 10 50100811 50100811 single base substitution G A intron_variant MELA-AU 10 50100836 50100836 single base substitution C T intron_variant MELA-AU 10 50100874 50100874 single base substitution G A intron_variant MELA-AU 10 50100964 50100964 single base substitution C T intron_variant MELA-AU 10 50101024 50101024 single base substitution A C intron_variant MELA-AU 10 50101069 50101070 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 50101111 50101111 single base substitution C T intron_variant MELA-AU 10 50101229 50101229 single base substitution C T intron_variant MELA-AU 10 50101250 50101250 single base substitution C T intron_variant MELA-AU 10 50101283 50101283 single base substitution C T intron_variant MELA-AU 10 50101373 50101373 single base substitution C T intron_variant MELA-AU 10 50101478 50101478 single base substitution G A intron_variant MELA-AU 10 50101511 50101512 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 50101618 50101618 single base substitution G A intron_variant MELA-AU 10 50101670 50101670 single base substitution G A intron_variant MELA-AU 10 50101692 50101692 single base substitution G A intron_variant MELA-AU 10 50101735 50101735 single base substitution C T intron_variant MELA-AU 10 50101799 50101799 single base substitution C T intron_variant MELA-AU 10 50101866 50101866 single base substitution G A intron_variant MELA-AU 10 50102011 50102011 single base substitution C T intron_variant MELA-AU 10 50102014 50102014 single base substitution C T intron_variant MELA-AU 10 50102017 50102017 single base substitution C T intron_variant MELA-AU 10 50102043 50102043 single base substitution C T intron_variant MELA-AU 10 50102067 50102067 single base substitution G A intron_variant MELA-AU 10 50102242 50102242 single base substitution G A intron_variant MELA-AU 10 50102242 50102242 single base substitution G C intron_variant MELA-AU 10 50102261 50102261 single base substitution C T intron_variant MELA-AU 10 50102262 50102262 single base substitution C T intron_variant MELA-AU 10 50102328 50102328 single base substitution T G intron_variant MELA-AU 10 50102483 50102483 single base substitution C T intron_variant MELA-AU 10 50102553 50102553 single base substitution G A intron_variant MELA-AU 10 50102554 50102554 single base substitution G A intron_variant MELA-AU 10 50102612 50102612 single base substitution G A intron_variant MELA-AU 10 50102680 50102680 single base substitution G A intron_variant MELA-AU 10 50102918 50102918 single base substitution G A intron_variant MELA-AU 10 50102999 50102999 single base substitution G C intron_variant MELA-AU 10 50103094 50103094 single base substitution C T intron_variant MELA-AU 10 50103283 50103283 single base substitution C T intron_variant MELA-AU 10 50103320 50103320 single base substitution C T intron_variant MELA-AU 10 50103341 50103341 single base substitution G A intron_variant MELA-AU 10 50103399 50103399 single base substitution G C intron_variant MELA-AU 10 50103417 50103417 single base substitution C T intron_variant MELA-AU 10 50103493 50103493 single base substitution C T intron_variant MELA-AU 10 50103621 50103621 single base substitution C T intron_variant MELA-AU 10 50103826 50103826 single base substitution G A intron_variant MELA-AU 10 50103839 50103839 single base substitution G A intron_variant MELA-AU 10 50104050 50104050 single base substitution G A intron_variant MELA-AU 10 50104109 50104109 single base substitution G A intron_variant MELA-AU 10 50104175 50104175 single base substitution C T intron_variant MELA-AU 10 50104275 50104275 single base substitution G A intron_variant MELA-AU 10 50104291 50104291 single base substitution C T intron_variant MELA-AU 10 50104392 50104392 single base substitution G A intron_variant MELA-AU 10 50104502 50104502 single base substitution C T intron_variant MELA-AU 10 50104816 50104816 single base substitution C T intron_variant MELA-AU 10 50104910 50104910 single base substitution G A intron_variant MELA-AU 10 50104934 50104934 single base substitution G A intron_variant MELA-AU 10 50104951 50104951 single base substitution G A intron_variant MELA-AU 10 50104958 50104958 single base substitution A C intron_variant MELA-AU 10 50104985 50104985 single base substitution G A intron_variant MELA-AU 10 50105172 50105172 single base substitution C T intron_variant MELA-AU 10 50105206 50105207 multiple base substitution (>=2bp and <=200bp) CC AT intron_variant MELA-AU 10 50105558 50105558 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50105558 50105558 single base substitution C T missense_variant S2459L 7376C>T MELA-AU 10 50105558 50105558 single base substitution C T missense_variant S545L 1634C>T MELA-AU 10 50105768 50105768 single base substitution C T intron_variant MELA-AU 10 50105769 50105769 single base substitution C T intron_variant MELA-AU 10 50105772 50105772 single base substitution G A intron_variant MELA-AU 10 50105830 50105830 single base substitution C T intron_variant MELA-AU 10 50105929 50105929 single base substitution G A intron_variant MELA-AU 10 50106042 50106042 single base substitution C T intron_variant MELA-AU 10 50106043 50106043 single base substitution C T intron_variant MELA-AU 10 50106117 50106117 single base substitution G A intron_variant MELA-AU 10 50106122 50106122 single base substitution C T intron_variant MELA-AU 10 50106124 50106124 single base substitution C T intron_variant MELA-AU 10 50106307 50106307 single base substitution G A intron_variant MELA-AU 10 50106406 50106406 single base substitution C T intron_variant MELA-AU 10 50106409 50106409 single base substitution T G intron_variant MELA-AU 10 50106445 50106445 single base substitution A G intron_variant MELA-AU 10 50106595 50106595 single base substitution C T intron_variant MELA-AU 10 50106634 50106634 single base substitution C T intron_variant MELA-AU 10 50106657 50106657 single base substitution G T intron_variant MELA-AU 10 50106677 50106677 single base substitution C T intron_variant MELA-AU 10 50106688 50106688 single base substitution C T intron_variant MELA-AU 10 50106695 50106695 single base substitution C T intron_variant MELA-AU 10 50106734 50106734 single base substitution C T intron_variant MELA-AU 10 50106872 50106872 single base substitution G A intron_variant MELA-AU 10 50106953 50106953 single base substitution C T intron_variant MELA-AU 10 50107124 50107124 single base substitution C T intron_variant MELA-AU 10 50107180 50107180 single base substitution C T intron_variant MELA-AU 10 50107186 50107186 single base substitution G A intron_variant MELA-AU 10 50107220 50107220 single base substitution C T intron_variant MELA-AU 10 50107456 50107456 single base substitution C T intron_variant MELA-AU 10 50107564 50107564 single base substitution C T intron_variant MELA-AU 10 50107745 50107745 single base substitution G A intron_variant MELA-AU 10 50107828 50107828 single base substitution G A intron_variant MELA-AU 10 50107885 50107885 single base substitution C T intron_variant MELA-AU 10 50107897 50107897 single base substitution C T intron_variant MELA-AU 10 50107905 50107905 single base substitution C T intron_variant MELA-AU 10 50107926 50107926 single base substitution C T intron_variant MELA-AU 10 50108156 50108156 single base substitution G A intron_variant MELA-AU 10 50108289 50108289 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50108289 50108289 single base substitution C T synonymous_variant F2487F 7461C>T MELA-AU 10 50108289 50108289 single base substitution C T synonymous_variant F573F 1719C>T MELA-AU 10 50108503 50108503 single base substitution G A intron_variant MELA-AU 10 50108518 50108518 single base substitution G A intron_variant MELA-AU 10 50108737 50108737 single base substitution C T intron_variant MELA-AU 10 50108738 50108738 single base substitution C T intron_variant MELA-AU 10 50108767 50108767 single base substitution C T intron_variant MELA-AU 10 50109194 50109194 single base substitution G A intron_variant MELA-AU 10 50109217 50109217 single base substitution G A intron_variant MELA-AU 10 50109359 50109359 single base substitution C T intron_variant MELA-AU 10 50109485 50109485 single base substitution G A intron_variant MELA-AU 10 50109862 50109862 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50109862 50109862 single base substitution C T missense_variant P2514S 7540C>T MELA-AU 10 50109862 50109862 single base substitution C T missense_variant P600S 1798C>T MELA-AU 10 50109973 50109973 single base substitution C T intron_variant MELA-AU 10 50110020 50110020 single base substitution C T intron_variant MELA-AU 10 50110060 50110060 single base substitution C T intron_variant MELA-AU 10 50110074 50110074 single base substitution C T intron_variant MELA-AU 10 50110128 50110128 single base substitution C T intron_variant MELA-AU 10 50110198 50110198 single base substitution G A intron_variant MELA-AU 10 50110320 50110320 single base substitution G A intron_variant MELA-AU 10 50110363 50110363 single base substitution C T intron_variant MELA-AU 10 50110369 50110369 single base substitution G A intron_variant MELA-AU 10 50110388 50110388 single base substitution C T intron_variant MELA-AU 10 50110407 50110407 single base substitution C T intron_variant MELA-AU 10 50110409 50110409 single base substitution C T intron_variant MELA-AU 10 50110414 50110414 single base substitution C T intron_variant MELA-AU 10 50110446 50110446 single base substitution G A intron_variant MELA-AU 10 50110472 50110472 single base substitution C T intron_variant MELA-AU 10 50110548 50110548 single base substitution G A intron_variant MELA-AU 10 50110594 50110594 single base substitution A G intron_variant MELA-AU 10 50110679 50110679 single base substitution C T intron_variant MELA-AU 10 50110894 50110895 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 50110939 50110939 single base substitution G A intron_variant MELA-AU 10 50110960 50110960 single base substitution G A intron_variant MELA-AU 10 50111037 50111037 single base substitution C T intron_variant MELA-AU 10 50111082 50111082 single base substitution G A intron_variant MELA-AU 10 50111109 50111109 single base substitution C T intron_variant MELA-AU 10 50111216 50111216 single base substitution G A intron_variant MELA-AU 10 50111231 50111231 single base substitution G A intron_variant MELA-AU 10 50111296 50111296 single base substitution A T intron_variant MELA-AU 10 50111378 50111378 single base substitution G A intron_variant MELA-AU 10 50111496 50111496 single base substitution C T intron_variant MELA-AU 10 50111678 50111678 single base substitution G A intron_variant MELA-AU 10 50111692 50111692 single base substitution G A intron_variant MELA-AU 10 50111716 50111716 single base substitution A G intron_variant MELA-AU 10 50111964 50111964 single base substitution G A intron_variant MELA-AU 10 50112194 50112194 single base substitution G C intron_variant MELA-AU 10 50112237 50112237 single base substitution A T intron_variant MELA-AU 10 50112287 50112287 single base substitution C T intron_variant MELA-AU 10 50112299 50112299 single base substitution G A intron_variant MELA-AU 10 50112355 50112355 single base substitution C T intron_variant MELA-AU 10 50112488 50112488 single base substitution T A intron_variant MELA-AU 10 50112586 50112586 single base substitution G A intron_variant MELA-AU 10 50112601 50112601 single base substitution C T intron_variant MELA-AU 10 50112654 50112654 single base substitution C T intron_variant MELA-AU 10 50112713 50112713 single base substitution C T intron_variant MELA-AU 10 50112761 50112761 single base substitution C T intron_variant MELA-AU 10 50112844 50112844 single base substitution G A intron_variant MELA-AU 10 50112871 50112871 single base substitution G C intron_variant MELA-AU 10 50113107 50113107 single base substitution C T intron_variant MELA-AU 10 50113124 50113124 single base substitution C T intron_variant MELA-AU 10 50113141 50113141 single base substitution A T intron_variant MELA-AU 10 50113165 50113165 single base substitution G A intron_variant MELA-AU 10 50113175 50113175 single base substitution C T intron_variant MELA-AU 10 50113181 50113181 single base substitution G A intron_variant MELA-AU 10 50113247 50113247 single base substitution G A intron_variant MELA-AU 10 50113318 50113318 single base substitution G A intron_variant MELA-AU 10 50113319 50113319 single base substitution G A intron_variant MELA-AU 10 50113345 50113345 single base substitution G A intron_variant MELA-AU 10 50113353 50113353 single base substitution C T intron_variant MELA-AU 10 50113439 50113439 single base substitution C T intron_variant MELA-AU 10 50113490 50113490 single base substitution C T intron_variant MELA-AU 10 50113515 50113515 single base substitution C T intron_variant MELA-AU 10 50113574 50113574 single base substitution G A intron_variant MELA-AU 10 50113813 50113813 single base substitution A T intron_variant MELA-AU 10 50113881 50113881 single base substitution C T intron_variant MELA-AU 10 50113931 50113931 single base substitution G A intron_variant MELA-AU 10 50113989 50113989 single base substitution T A intron_variant MELA-AU 10 50114054 50114054 single base substitution G A intron_variant MELA-AU 10 50114219 50114219 single base substitution G A intron_variant MELA-AU 10 50114432 50114432 single base substitution A T intron_variant MELA-AU 10 50114486 50114486 single base substitution C T intron_variant MELA-AU 10 50114524 50114524 single base substitution G A intron_variant MELA-AU 10 50114534 50114534 single base substitution C T intron_variant MELA-AU 10 50114546 50114546 single base substitution C T intron_variant MELA-AU 10 50114571 50114571 single base substitution C T intron_variant MELA-AU 10 50114572 50114572 single base substitution G A intron_variant MELA-AU 10 50114693 50114693 single base substitution G A intron_variant MELA-AU 10 50114703 50114703 single base substitution G A intron_variant MELA-AU 10 50114856 50114856 single base substitution G A intron_variant MELA-AU 10 50114982 50114982 single base substitution G A intron_variant MELA-AU 10 50114994 50114994 single base substitution T G intron_variant MELA-AU 10 50115003 50115003 single base substitution G A intron_variant MELA-AU 10 50115053 50115053 single base substitution G A intron_variant MELA-AU 10 50115121 50115121 single base substitution T A intron_variant MELA-AU 10 50115187 50115187 single base substitution C T intron_variant MELA-AU 10 50115346 50115346 single base substitution G A intron_variant MELA-AU 10 50115393 50115393 single base substitution G A intron_variant MELA-AU 10 50115412 50115412 single base substitution G A intron_variant MELA-AU 10 50115473 50115473 single base substitution C T intron_variant MELA-AU 10 50115515 50115515 single base substitution G A intron_variant MELA-AU 10 50115571 50115571 single base substitution C T intron_variant MELA-AU 10 50115641 50115641 single base substitution G A intron_variant MELA-AU 10 50115687 50115687 single base substitution G A intron_variant MELA-AU 10 50115709 50115709 single base substitution G A intron_variant MELA-AU 10 50115735 50115735 single base substitution C T intron_variant MELA-AU 10 50115749 50115749 single base substitution C T intron_variant MELA-AU 10 50116069 50116069 single base substitution C T intron_variant MELA-AU 10 50116076 50116076 single base substitution C T intron_variant MELA-AU 10 50116154 50116154 single base substitution C T intron_variant MELA-AU 10 50116244 50116244 single base substitution C T intron_variant MELA-AU 10 50116258 50116258 single base substitution C T intron_variant MELA-AU 10 50116307 50116307 single base substitution G A intron_variant MELA-AU 10 50116535 50116535 single base substitution C T intron_variant MELA-AU 10 50116759 50116759 single base substitution C T intron_variant MELA-AU 10 50116859 50116859 single base substitution C T intron_variant MELA-AU 10 50117010 50117010 single base substitution C T intron_variant MELA-AU 10 50117161 50117161 single base substitution C T intron_variant MELA-AU 10 50117340 50117340 single base substitution C T intron_variant MELA-AU 10 50117363 50117363 single base substitution C T intron_variant MELA-AU 10 50117455 50117455 single base substitution T C intron_variant MELA-AU 10 50117489 50117489 single base substitution C T intron_variant MELA-AU 10 50117541 50117541 single base substitution G A intron_variant MELA-AU 10 50117632 50117632 single base substitution G A intron_variant MELA-AU 10 50117642 50117642 single base substitution G A intron_variant MELA-AU 10 50117648 50117648 single base substitution G A intron_variant MELA-AU 10 50117765 50117765 single base substitution G A intron_variant MELA-AU 10 50117879 50117879 single base substitution C T intron_variant MELA-AU 10 50118074 50118074 single base substitution C T intron_variant MELA-AU 10 50118475 50118475 single base substitution C T intron_variant MELA-AU 10 50118635 50118635 single base substitution C T intron_variant MELA-AU 10 50118791 50118791 single base substitution G A intron_variant MELA-AU 10 50118955 50118955 single base substitution T C intron_variant MELA-AU 10 50118998 50118998 single base substitution G A intron_variant MELA-AU 10 50119301 50119301 single base substitution G A intron_variant MELA-AU 10 50119474 50119474 single base substitution C T intron_variant MELA-AU 10 50119478 50119478 single base substitution G A intron_variant MELA-AU 10 50119479 50119479 single base substitution G A intron_variant MELA-AU 10 50119593 50119593 single base substitution G T intron_variant MELA-AU 10 50119605 50119605 single base substitution G A intron_variant MELA-AU 10 50119662 50119662 single base substitution G A intron_variant MELA-AU 10 50119743 50119743 single base substitution G A intron_variant MELA-AU 10 50119859 50119859 single base substitution G A intron_variant MELA-AU 10 50120071 50120071 single base substitution A C intron_variant MELA-AU 10 50120089 50120089 single base substitution G A intron_variant MELA-AU 10 50120102 50120102 single base substitution G A intron_variant MELA-AU 10 50120104 50120104 single base substitution A T intron_variant MELA-AU 10 50120135 50120135 single base substitution C T intron_variant MELA-AU 10 50120193 50120193 single base substitution T C intron_variant MELA-AU 10 50120243 50120243 single base substitution G A intron_variant MELA-AU 10 50120345 50120345 single base substitution C T intron_variant MELA-AU 10 50120515 50120515 single base substitution C T intron_variant MELA-AU 10 50120721 50120721 single base substitution C A intron_variant MELA-AU 10 50120729 50120729 single base substitution C T intron_variant MELA-AU 10 50120787 50120787 single base substitution C T intron_variant MELA-AU 10 50121010 50121010 single base substitution C T intron_variant MELA-AU 10 50121042 50121042 single base substitution C T intron_variant MELA-AU 10 50121175 50121175 single base substitution G A intron_variant MELA-AU 10 50121228 50121228 single base substitution G A intron_variant MELA-AU 10 50121301 50121301 single base substitution G A intron_variant MELA-AU 10 50121362 50121362 single base substitution C T intron_variant MELA-AU 10 50121384 50121384 single base substitution C T intron_variant MELA-AU 10 50121407 50121407 single base substitution C T intron_variant MELA-AU 10 50121422 50121422 single base substitution C T intron_variant MELA-AU 10 50121540 50121540 single base substitution G A intron_variant MELA-AU 10 50121588 50121588 single base substitution C T intron_variant MELA-AU 10 50121759 50121759 single base substitution C T intron_variant MELA-AU 10 50121763 50121763 single base substitution G A intron_variant MELA-AU 10 50121768 50121768 single base substitution C T intron_variant MELA-AU 10 50121779 50121779 single base substitution C T intron_variant MELA-AU 10 50121856 50121856 single base substitution C T intron_variant MELA-AU 10 50121985 50121985 single base substitution G A intron_variant MELA-AU 10 50121998 50121998 single base substitution G C intron_variant MELA-AU 10 50122002 50122002 single base substitution C T intron_variant MELA-AU 10 50122012 50122012 single base substitution C T intron_variant MELA-AU 10 50122129 50122129 single base substitution G A intron_variant MELA-AU 10 50122198 50122198 single base substitution C T intron_variant MELA-AU 10 50122262 50122262 single base substitution G A intron_variant MELA-AU 10 50122520 50122520 single base substitution C T intron_variant MELA-AU 10 50122584 50122584 single base substitution C A intron_variant MELA-AU 10 50122655 50122655 single base substitution C T intron_variant MELA-AU 10 50122681 50122681 single base substitution G A intron_variant MELA-AU 10 50122700 50122700 single base substitution C T intron_variant MELA-AU 10 50122773 50122773 single base substitution C T intron_variant MELA-AU 10 50122786 50122786 single base substitution G A intron_variant MELA-AU 10 50122965 50122965 single base substitution C T intron_variant MELA-AU 10 50122975 50122975 single base substitution C T intron_variant MELA-AU 10 50122977 50122977 single base substitution C G intron_variant MELA-AU 10 50123020 50123020 single base substitution G A intron_variant MELA-AU 10 50123127 50123127 single base substitution C T intron_variant MELA-AU 10 50123170 50123170 single base substitution G A intron_variant MELA-AU 10 50123339 50123339 single base substitution C T intron_variant MELA-AU 10 50123345 50123345 single base substitution G A intron_variant MELA-AU 10 50123383 50123383 single base substitution G A intron_variant MELA-AU 10 50123388 50123388 single base substitution G A intron_variant MELA-AU 10 50123432 50123432 single base substitution T C intron_variant MELA-AU 10 50123656 50123657 multiple base substitution (>=2bp and <=200bp) GA AT intron_variant MELA-AU 10 50123688 50123688 single base substitution C T intron_variant MELA-AU 10 50123768 50123768 single base substitution C T intron_variant MELA-AU 10 50123778 50123778 single base substitution G A intron_variant MELA-AU 10 50123908 50123908 single base substitution A T intron_variant MELA-AU 10 50123920 50123920 single base substitution C T intron_variant MELA-AU 10 50123921 50123921 single base substitution C T intron_variant MELA-AU 10 50123990 50123990 single base substitution C T intron_variant MELA-AU 10 50124007 50124008 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 50124012 50124012 single base substitution T C intron_variant MELA-AU 10 50124052 50124052 single base substitution C T intron_variant MELA-AU 10 50124091 50124091 single base substitution C T intron_variant MELA-AU 10 50124161 50124161 single base substitution C T intron_variant MELA-AU 10 50124220 50124220 single base substitution C T intron_variant MELA-AU 10 50124254 50124254 single base substitution T C intron_variant MELA-AU 10 50124304 50124304 single base substitution G A intron_variant MELA-AU 10 50124360 50124360 single base substitution G A intron_variant MELA-AU 10 50124447 50124447 single base substitution C T intron_variant MELA-AU 10 50124491 50124491 single base substitution C T intron_variant MELA-AU 10 50124493 50124493 single base substitution G A intron_variant MELA-AU 10 50124558 50124558 single base substitution G T intron_variant MELA-AU 10 50124651 50124651 single base substitution C T intron_variant MELA-AU 10 50124664 50124664 single base substitution C T intron_variant MELA-AU 10 50124695 50124695 single base substitution G A intron_variant MELA-AU 10 50124745 50124745 single base substitution G A intron_variant MELA-AU 10 50124749 50124749 single base substitution C T intron_variant MELA-AU 10 50124856 50124856 single base substitution G A intron_variant MELA-AU 10 50124861 50124861 single base substitution A C intron_variant MELA-AU 10 50125016 50125016 single base substitution C T intron_variant MELA-AU 10 50125252 50125252 single base substitution G A intron_variant MELA-AU 10 50125404 50125404 single base substitution C T intron_variant MELA-AU 10 50125421 50125421 single base substitution G C intron_variant MELA-AU 10 50125444 50125444 single base substitution G A intron_variant MELA-AU 10 50125445 50125445 single base substitution G A intron_variant MELA-AU 10 50125515 50125515 single base substitution A G intron_variant MELA-AU 10 50125516 50125516 single base substitution T A intron_variant MELA-AU 10 50125628 50125628 single base substitution G A intron_variant MELA-AU 10 50125636 50125636 single base substitution C T intron_variant MELA-AU 10 50125841 50125841 single base substitution G A intron_variant MELA-AU 10 50125853 50125853 single base substitution G A intron_variant MELA-AU 10 50125890 50125890 single base substitution C T intron_variant MELA-AU 10 50125923 50125923 single base substitution C T intron_variant MELA-AU 10 50126022 50126022 single base substitution G A intron_variant MELA-AU 10 50126211 50126211 single base substitution G A intron_variant MELA-AU 10 50126217 50126217 single base substitution G A intron_variant MELA-AU 10 50126218 50126218 single base substitution G T intron_variant MELA-AU 10 50126322 50126322 single base substitution G A intron_variant MELA-AU 10 50126518 50126518 single base substitution G A intron_variant MELA-AU 10 50126540 50126540 single base substitution A T intron_variant MELA-AU 10 50126547 50126547 single base substitution G A intron_variant MELA-AU 10 50126617 50126617 single base substitution G A intron_variant MELA-AU 10 50126709 50126709 single base substitution G A intron_variant MELA-AU 10 50126821 50126821 single base substitution G A intron_variant MELA-AU 10 50126953 50126953 single base substitution G A intron_variant MELA-AU 10 50126954 50126954 single base substitution G A intron_variant MELA-AU 10 50127040 50127040 single base substitution C T intron_variant MELA-AU 10 50127069 50127069 single base substitution C T intron_variant MELA-AU 10 50127088 50127088 single base substitution A C intron_variant MELA-AU 10 50127121 50127121 single base substitution G A intron_variant MELA-AU 10 50127148 50127148 single base substitution G A intron_variant MELA-AU 10 50127180 50127180 single base substitution C T intron_variant MELA-AU 10 50127196 50127196 single base substitution G A intron_variant MELA-AU 10 50127273 50127273 single base substitution G A intron_variant MELA-AU 10 50127285 50127285 single base substitution C T intron_variant MELA-AU 10 50127301 50127301 single base substitution G A intron_variant MELA-AU 10 50127342 50127342 single base substitution G A intron_variant MELA-AU 10 50127433 50127433 single base substitution C T intron_variant MELA-AU 10 50127469 50127469 single base substitution C T intron_variant MELA-AU 10 50127701 50127701 single base substitution G A intron_variant MELA-AU 10 50127783 50127783 single base substitution C T intron_variant MELA-AU 10 50127906 50127906 single base substitution C A intron_variant MELA-AU 10 50127906 50127906 single base substitution C T intron_variant MELA-AU 10 50127935 50127935 single base substitution G A intron_variant MELA-AU 10 50128346 50128346 single base substitution G A intron_variant MELA-AU 10 50128380 50128380 single base substitution G A intron_variant MELA-AU 10 50128385 50128385 single base substitution G A intron_variant MELA-AU 10 50128398 50128398 single base substitution C T intron_variant MELA-AU 10 50128429 50128429 single base substitution G A intron_variant MELA-AU 10 50128573 50128573 single base substitution G A intron_variant MELA-AU 10 50128613 50128613 single base substitution C T intron_variant MELA-AU 10 50128810 50128810 single base substitution G A intron_variant MELA-AU 10 50128928 50128928 single base substitution G A intron_variant MELA-AU 10 50128935 50128935 single base substitution G A intron_variant MELA-AU 10 50129000 50129000 single base substitution G A intron_variant MELA-AU 10 50129001 50129001 single base substitution G A intron_variant MELA-AU 10 50129089 50129089 single base substitution G A intron_variant MELA-AU 10 50129157 50129157 single base substitution G A intron_variant MELA-AU 10 50129182 50129182 single base substitution G A intron_variant MELA-AU 10 50129187 50129187 single base substitution G A intron_variant MELA-AU 10 50129187 50129187 single base substitution G T intron_variant MELA-AU 10 50129192 50129192 single base substitution G A intron_variant MELA-AU 10 50129217 50129217 single base substitution G A intron_variant MELA-AU 10 50129315 50129315 single base substitution G A intron_variant MELA-AU 10 50129444 50129444 single base substitution G A intron_variant MELA-AU 10 50129508 50129508 single base substitution G A intron_variant MELA-AU 10 50129520 50129520 single base substitution G T intron_variant MELA-AU 10 50129758 50129758 single base substitution C T intron_variant MELA-AU 10 50129791 50129791 single base substitution T G intron_variant MELA-AU 10 50129819 50129819 single base substitution A T intron_variant MELA-AU 10 50129854 50129854 single base substitution G A intron_variant MELA-AU 10 50129925 50129925 single base substitution G A intron_variant MELA-AU 10 50130133 50130133 single base substitution C T intron_variant MELA-AU 10 50130155 50130155 single base substitution C T intron_variant MELA-AU 10 50130200 50130200 single base substitution G A intron_variant MELA-AU 10 50130246 50130246 single base substitution G A intron_variant MELA-AU 10 50130257 50130257 single base substitution T G intron_variant MELA-AU 10 50130301 50130301 single base substitution C T intron_variant MELA-AU 10 50130368 50130368 single base substitution C T intron_variant MELA-AU 10 50130413 50130413 single base substitution G A intron_variant MELA-AU 10 50130513 50130513 single base substitution A G intron_variant MELA-AU 10 50130526 50130526 single base substitution G A intron_variant MELA-AU 10 50130530 50130530 single base substitution G A intron_variant MELA-AU 10 50130659 50130659 single base substitution G A intron_variant MELA-AU 10 50130782 50130782 single base substitution G A intron_variant MELA-AU 10 50130856 50130856 single base substitution C T intron_variant MELA-AU 10 50130890 50130890 single base substitution T C intron_variant MELA-AU 10 50130972 50130972 single base substitution C T intron_variant MELA-AU 10 50131046 50131046 single base substitution G A intron_variant MELA-AU 10 50131095 50131095 single base substitution C T intron_variant MELA-AU 10 50131179 50131179 single base substitution T C intron_variant MELA-AU 10 50131182 50131182 single base substitution G A intron_variant MELA-AU 10 50131519 50131519 single base substitution G A intron_variant MELA-AU 10 50131671 50131671 single base substitution C T intron_variant MELA-AU 10 50131878 50131878 single base substitution C T intron_variant MELA-AU 10 50131922 50131922 single base substitution C T intron_variant MELA-AU 10 50132164 50132164 single base substitution G A intron_variant MELA-AU 10 50132179 50132179 single base substitution C T intron_variant MELA-AU 10 50132334 50132334 single base substitution C T intron_variant MELA-AU 10 50132343 50132343 single base substitution C T intron_variant MELA-AU 10 50132504 50132504 single base substitution G A intron_variant MELA-AU 10 50132597 50132597 single base substitution C T intron_variant MELA-AU 10 50132776 50132776 single base substitution G A intron_variant MELA-AU 10 50132893 50132893 single base substitution C T intron_variant MELA-AU 10 50132954 50132954 deletion of <=200bp C - intron_variant MELA-AU 10 50132986 50132986 single base substitution A G intron_variant MELA-AU 10 50133028 50133028 single base substitution G A intron_variant MELA-AU 10 50133060 50133060 single base substitution C T intron_variant MELA-AU 10 50133247 50133247 single base substitution G A intron_variant MELA-AU 10 50133261 50133261 single base substitution A C intron_variant MELA-AU 10 50133288 50133288 single base substitution C T intron_variant MELA-AU 10 50133400 50133400 single base substitution G A intron_variant MELA-AU 10 50133429 50133429 single base substitution G A intron_variant MELA-AU 10 50133443 50133443 single base substitution G A intron_variant MELA-AU 10 50133509 50133509 single base substitution C T intron_variant MELA-AU 10 50133579 50133579 single base substitution C T intron_variant MELA-AU 10 50133586 50133586 single base substitution G A intron_variant MELA-AU 10 50133789 50133789 single base substitution G A intron_variant MELA-AU 10 50133819 50133819 single base substitution G A intron_variant MELA-AU 10 50133937 50133937 single base substitution C T intron_variant MELA-AU 10 50133947 50133947 single base substitution A T intron_variant MELA-AU 10 50134240 50134240 single base substitution G A intron_variant MELA-AU 10 50134291 50134291 single base substitution C T intron_variant MELA-AU 10 50134340 50134340 single base substitution C T intron_variant MELA-AU 10 50134358 50134358 single base substitution G A intron_variant MELA-AU 10 50134372 50134372 single base substitution C T intron_variant MELA-AU 10 50134436 50134436 single base substitution G A intron_variant MELA-AU 10 50134509 50134509 single base substitution A C intron_variant MELA-AU 10 50134701 50134701 single base substitution C T intron_variant MELA-AU 10 50134764 50134764 single base substitution G A intron_variant MELA-AU 10 50135021 50135021 single base substitution C T intron_variant MELA-AU 10 50135038 50135038 single base substitution G A intron_variant MELA-AU 10 50135269 50135269 single base substitution G A intron_variant MELA-AU 10 50135364 50135364 single base substitution C T intron_variant MELA-AU 10 50135395 50135395 single base substitution G A intron_variant MELA-AU 10 50135430 50135430 single base substitution G A intron_variant MELA-AU 10 50135817 50135818 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 50135908 50135908 single base substitution G A intron_variant MELA-AU 10 50135967 50135967 single base substitution A C intron_variant MELA-AU 10 50136049 50136049 single base substitution G A intron_variant MELA-AU 10 50136098 50136098 single base substitution C T intron_variant MELA-AU 10 50136182 50136182 single base substitution G A intron_variant MELA-AU 10 50136214 50136214 single base substitution G A intron_variant MELA-AU 10 50136225 50136225 single base substitution G A intron_variant MELA-AU 10 50136274 50136274 single base substitution G A intron_variant MELA-AU 10 50136278 50136278 single base substitution C T intron_variant MELA-AU 10 50136460 50136460 single base substitution G A intron_variant MELA-AU 10 50136569 50136569 single base substitution G A intron_variant MELA-AU 10 50136643 50136643 single base substitution C T intron_variant MELA-AU 10 50136838 50136838 single base substitution G A intron_variant MELA-AU 10 50136965 50136965 single base substitution C T intron_variant MELA-AU 10 50137219 50137219 single base substitution C T intron_variant MELA-AU 10 50137269 50137269 single base substitution G A intron_variant MELA-AU 10 50137269 50137270 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 50137278 50137278 single base substitution G A intron_variant MELA-AU 10 50137311 50137311 single base substitution G A intron_variant MELA-AU 10 50137507 50137507 single base substitution G A intron_variant MELA-AU 10 50137757 50137757 single base substitution C T intron_variant MELA-AU 10 50137796 50137796 single base substitution C T intron_variant MELA-AU 10 50137838 50137838 single base substitution C T intron_variant MELA-AU 10 50137840 50137840 single base substitution G A intron_variant MELA-AU 10 50138120 50138120 single base substitution C T intron_variant MELA-AU 10 50138320 50138320 single base substitution G A intron_variant MELA-AU 10 50138348 50138348 single base substitution C T intron_variant MELA-AU 10 50138349 50138349 single base substitution C T intron_variant MELA-AU 10 50138583 50138583 single base substitution G A intron_variant MELA-AU 10 50138625 50138625 single base substitution G A intron_variant MELA-AU 10 50138916 50138916 single base substitution G A intron_variant MELA-AU 10 50138928 50138928 single base substitution C T intron_variant MELA-AU 10 50139261 50139261 single base substitution G A intron_variant MELA-AU 10 50139299 50139299 single base substitution G A intron_variant MELA-AU 10 50139417 50139417 single base substitution G C intron_variant MELA-AU 10 50139473 50139473 single base substitution C T intron_variant MELA-AU 10 50139753 50139753 single base substitution C T intron_variant MELA-AU 10 50139770 50139770 single base substitution G A intron_variant MELA-AU 10 50139794 50139794 single base substitution C T intron_variant MELA-AU 10 50139820 50139820 single base substitution G A intron_variant MELA-AU 10 50139879 50139879 single base substitution C T intron_variant MELA-AU 10 50139973 50139973 single base substitution G A intron_variant MELA-AU 10 50140006 50140006 single base substitution C T intron_variant MELA-AU 10 50140188 50140188 single base substitution G A intron_variant MELA-AU 10 50140519 50140519 single base substitution C T intron_variant MELA-AU 10 50140707 50140707 single base substitution G A intron_variant MELA-AU 10 50140728 50140728 single base substitution C A intron_variant MELA-AU 10 50140776 50140776 single base substitution G A intron_variant MELA-AU 10 50141029 50141029 single base substitution G A intron_variant MELA-AU 10 50141205 50141205 single base substitution G A intron_variant MELA-AU 10 50141206 50141206 single base substitution G A intron_variant MELA-AU 10 50141290 50141290 single base substitution C T intron_variant MELA-AU 10 50141595 50141595 single base substitution C T intron_variant MELA-AU 10 50141744 50141744 single base substitution G A intron_variant MELA-AU 10 50141762 50141762 single base substitution T C intron_variant MELA-AU 10 50141815 50141815 single base substitution G A intron_variant MELA-AU 10 50141865 50141865 single base substitution A C intron_variant MELA-AU 10 50141932 50141932 single base substitution C T intron_variant MELA-AU 10 50141955 50141955 single base substitution G A intron_variant MELA-AU 10 50142052 50142052 single base substitution G A intron_variant MELA-AU 10 50142204 50142204 single base substitution A G intron_variant MELA-AU 10 50142433 50142433 single base substitution G A intron_variant MELA-AU 10 50142439 50142439 single base substitution C T intron_variant MELA-AU 10 50142530 50142530 single base substitution T A intron_variant MELA-AU 10 50142575 50142575 single base substitution C T intron_variant MELA-AU 10 50142767 50142767 single base substitution C T intron_variant MELA-AU 10 50142822 50142822 single base substitution G A intron_variant MELA-AU 10 50142895 50142895 single base substitution G A intron_variant MELA-AU 10 50143006 50143006 single base substitution C T intron_variant MELA-AU 10 50143334 50143334 single base substitution G A intron_variant MELA-AU 10 50143373 50143373 single base substitution C T intron_variant MELA-AU 10 50143410 50143410 single base substitution C T intron_variant MELA-AU 10 50143474 50143474 single base substitution G A intron_variant MELA-AU 10 50143614 50143614 single base substitution G A intron_variant MELA-AU 10 50144157 50144157 single base substitution A G intron_variant MELA-AU 10 50144315 50144315 single base substitution G A intron_variant MELA-AU 10 50144678 50144678 single base substitution C T intron_variant MELA-AU 10 50144832 50144832 single base substitution G A intron_variant MELA-AU 10 50144940 50144940 single base substitution G A intron_variant MELA-AU 10 50144979 50144979 single base substitution T C intron_variant MELA-AU 10 50145081 50145081 single base substitution G A intron_variant MELA-AU 10 50145159 50145159 single base substitution G A intron_variant MELA-AU 10 50145166 50145166 single base substitution T C intron_variant MELA-AU 10 50145208 50145208 single base substitution G A intron_variant MELA-AU 10 50145252 50145252 single base substitution T A intron_variant MELA-AU 10 50145300 50145300 single base substitution T C intron_variant MELA-AU 10 50145355 50145355 single base substitution G A intron_variant MELA-AU 10 50145584 50145584 single base substitution C T intron_variant MELA-AU 10 50145605 50145605 single base substitution G A intron_variant MELA-AU 10 50145770 50145770 single base substitution G A intron_variant MELA-AU 10 50145899 50145899 single base substitution G A intron_variant MELA-AU 10 50146063 50146063 single base substitution C T intron_variant MELA-AU 10 50146186 50146186 single base substitution C T intron_variant MELA-AU 10 50146277 50146277 single base substitution G A intron_variant MELA-AU 10 50146391 50146391 single base substitution A T intron_variant MELA-AU 10 50146643 50146643 single base substitution G A intron_variant MELA-AU 10 50146645 50146645 single base substitution G A intron_variant MELA-AU 10 50146670 50146670 single base substitution G A intron_variant MELA-AU 10 50146677 50146677 single base substitution C T intron_variant MELA-AU 10 50146764 50146764 single base substitution G A intron_variant MELA-AU 10 50146821 50146821 single base substitution G A intron_variant MELA-AU 10 50146855 50146856 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 50146884 50146884 single base substitution G A intron_variant MELA-AU 10 50146953 50146953 single base substitution C T intron_variant MELA-AU 10 50147020 50147020 single base substitution C T intron_variant MELA-AU 10 50147340 50147340 single base substitution T C intron_variant MELA-AU 10 50147709 50147709 single base substitution C T intron_variant MELA-AU 10 50147725 50147725 single base substitution A G intron_variant MELA-AU 10 50147738 50147738 single base substitution C T intron_variant MELA-AU 10 50147793 50147793 single base substitution T A intron_variant MELA-AU 10 50147917 50147917 single base substitution C T intron_variant MELA-AU 10 50147975 50147975 single base substitution C T intron_variant MELA-AU 10 50148071 50148071 single base substitution C T intron_variant MELA-AU 10 50148125 50148125 single base substitution C T intron_variant MELA-AU 10 50148172 50148173 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 50148324 50148324 single base substitution C T intron_variant MELA-AU 10 50148490 50148490 single base substitution G A intron_variant MELA-AU 10 50148697 50148697 single base substitution G A intron_variant MELA-AU 10 50148802 50148802 single base substitution G A intron_variant MELA-AU 10 50148878 50148878 single base substitution G A intron_variant MELA-AU 10 50148964 50148964 single base substitution G A intron_variant MELA-AU 10 50149045 50149045 single base substitution A G intron_variant MELA-AU 10 50149098 50149098 single base substitution G A intron_variant MELA-AU 10 50149098 50149098 single base substitution G A upstream_gene_variant MELA-AU 10 50149124 50149124 single base substitution G A intron_variant MELA-AU 10 50149124 50149124 single base substitution G A upstream_gene_variant MELA-AU 10 50149176 50149176 single base substitution G A intron_variant MELA-AU 10 50149176 50149176 single base substitution G A upstream_gene_variant MELA-AU 10 50149299 50149299 single base substitution C T intron_variant MELA-AU 10 50149299 50149299 single base substitution C T upstream_gene_variant MELA-AU 10 50149490 50149491 multiple base substitution (>=2bp and <=200bp) GG TA intron_variant MELA-AU 10 50149490 50149491 multiple base substitution (>=2bp and <=200bp) GG TA upstream_gene_variant MELA-AU 10 50149497 50149497 single base substitution G A intron_variant MELA-AU 10 50149497 50149497 single base substitution G A upstream_gene_variant MELA-AU 10 50149517 50149517 single base substitution G A intron_variant MELA-AU 10 50149517 50149517 single base substitution G A upstream_gene_variant MELA-AU 10 50149724 50149725 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 50149724 50149725 multiple base substitution (>=2bp and <=200bp) GG AA upstream_gene_variant MELA-AU 10 50149851 50149851 single base substitution G A splice_region_variant MELA-AU 10 50149851 50149851 single base substitution G A upstream_gene_variant MELA-AU 10 50149872 50149872 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50149872 50149872 single base substitution G A synonymous_variant R2536R 7608G>A MELA-AU 10 50149872 50149872 single base substitution G A synonymous_variant R622R 1866G>A MELA-AU 10 50149872 50149872 single base substitution G A upstream_gene_variant MELA-AU 10 50150312 50150312 single base substitution G A intron_variant MELA-AU 10 50150312 50150312 single base substitution G A upstream_gene_variant MELA-AU 10 50150373 50150373 single base substitution G A intron_variant MELA-AU 10 50150373 50150373 single base substitution G A upstream_gene_variant MELA-AU 10 50150406 50150406 single base substitution G A intron_variant MELA-AU 10 50150406 50150406 single base substitution G A upstream_gene_variant MELA-AU 10 50150502 50150502 single base substitution C A intron_variant MELA-AU 10 50150502 50150502 single base substitution C A upstream_gene_variant MELA-AU 10 50150666 50150666 single base substitution G A intron_variant MELA-AU 10 50150666 50150666 single base substitution G A upstream_gene_variant MELA-AU 10 50150675 50150675 single base substitution G A intron_variant MELA-AU 10 50150675 50150675 single base substitution G A upstream_gene_variant MELA-AU 10 50150710 50150710 single base substitution C T intron_variant MELA-AU 10 50150710 50150710 single base substitution C T upstream_gene_variant MELA-AU 10 50150756 50150756 single base substitution G A intron_variant MELA-AU 10 50150756 50150756 single base substitution G A upstream_gene_variant MELA-AU 10 50150814 50150814 single base substitution G A intron_variant MELA-AU 10 50150814 50150814 single base substitution G A upstream_gene_variant MELA-AU 10 50150815 50150815 single base substitution G A intron_variant MELA-AU 10 50150815 50150815 single base substitution G A upstream_gene_variant MELA-AU 10 50150824 50150824 single base substitution C T intron_variant MELA-AU 10 50150824 50150824 single base substitution C T upstream_gene_variant MELA-AU 10 50150882 50150882 single base substitution G A intron_variant MELA-AU 10 50150882 50150882 single base substitution G A upstream_gene_variant MELA-AU 10 50150981 50150981 single base substitution C T intron_variant MELA-AU 10 50150981 50150981 single base substitution C T upstream_gene_variant MELA-AU 10 50151017 50151017 single base substitution C T intron_variant MELA-AU 10 50151017 50151017 single base substitution C T upstream_gene_variant MELA-AU 10 50151118 50151118 single base substitution C T intron_variant MELA-AU 10 50151118 50151118 single base substitution C T upstream_gene_variant MELA-AU 10 50151464 50151464 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50151464 50151464 single base substitution C T synonymous_variant F2573F 7719C>T MELA-AU 10 50151464 50151464 single base substitution C T synonymous_variant F659F 1977C>T MELA-AU 10 50151464 50151464 single base substitution C T upstream_gene_variant MELA-AU 10 50151465 50151465 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50151465 50151465 single base substitution C T missense_variant P2574S 7720C>T MELA-AU 10 50151465 50151465 single base substitution C T missense_variant P660S 1978C>T MELA-AU 10 50151465 50151465 single base substitution C T upstream_gene_variant MELA-AU 10 50151492 50151492 single base substitution G A missense_variant E2583K 7747G>A MELA-AU 10 50151492 50151492 single base substitution G A missense_variant E669K 2005G>A MELA-AU 10 50151492 50151492 single base substitution G A splice_region_variant MELA-AU 10 50151492 50151492 single base substitution G A upstream_gene_variant MELA-AU 10 50151585 50151585 single base substitution G A intron_variant MELA-AU 10 50151585 50151585 single base substitution G A upstream_gene_variant MELA-AU 10 50151592 50151592 single base substitution C G intron_variant MELA-AU 10 50151592 50151592 single base substitution C G upstream_gene_variant MELA-AU 10 50151661 50151661 single base substitution G A intron_variant MELA-AU 10 50151661 50151661 single base substitution G A upstream_gene_variant MELA-AU 10 50151662 50151662 single base substitution G A intron_variant MELA-AU 10 50151662 50151662 single base substitution G A upstream_gene_variant MELA-AU 10 50151780 50151780 single base substitution G A intron_variant MELA-AU 10 50151780 50151780 single base substitution G A upstream_gene_variant MELA-AU 10 50151891 50151891 single base substitution C T intron_variant MELA-AU 10 50151891 50151891 single base substitution C T upstream_gene_variant MELA-AU 10 50151973 50151973 single base substitution T A intron_variant MELA-AU 10 50151973 50151973 single base substitution T A upstream_gene_variant MELA-AU 10 50152001 50152001 single base substitution C T intron_variant MELA-AU 10 50152001 50152001 single base substitution C T upstream_gene_variant MELA-AU 10 50152314 50152314 single base substitution G A intron_variant MELA-AU 10 50152314 50152314 single base substitution G A upstream_gene_variant MELA-AU 10 50152343 50152343 single base substitution G A intron_variant MELA-AU 10 50152343 50152343 single base substitution G A upstream_gene_variant MELA-AU 10 50152610 50152610 single base substitution C T intron_variant MELA-AU 10 50152610 50152610 single base substitution C T upstream_gene_variant MELA-AU 10 50152870 50152870 single base substitution G A intron_variant MELA-AU 10 50152870 50152870 single base substitution G A upstream_gene_variant MELA-AU 10 50152907 50152907 single base substitution C T intron_variant MELA-AU 10 50152907 50152907 single base substitution C T upstream_gene_variant MELA-AU 10 50152981 50152981 single base substitution C T intron_variant MELA-AU 10 50152981 50152981 single base substitution C T upstream_gene_variant MELA-AU 10 50153030 50153030 single base substitution C T intron_variant MELA-AU 10 50153030 50153030 single base substitution C T upstream_gene_variant MELA-AU 10 50153404 50153404 single base substitution G A intron_variant MELA-AU 10 50153404 50153404 single base substitution G A upstream_gene_variant MELA-AU 10 50153518 50153518 single base substitution G A intron_variant MELA-AU 10 50153518 50153518 single base substitution G A upstream_gene_variant MELA-AU 10 50153535 50153535 single base substitution C T intron_variant MELA-AU 10 50153535 50153535 single base substitution C T upstream_gene_variant MELA-AU 10 50153582 50153582 single base substitution C T intron_variant MELA-AU 10 50153582 50153582 single base substitution C T upstream_gene_variant MELA-AU 10 50153616 50153616 single base substitution C T intron_variant MELA-AU 10 50153616 50153616 single base substitution C T upstream_gene_variant MELA-AU 10 50153644 50153644 single base substitution G A intron_variant MELA-AU 10 50153644 50153644 single base substitution G A upstream_gene_variant MELA-AU 10 50153725 50153725 single base substitution G A intron_variant MELA-AU 10 50153725 50153725 single base substitution G A upstream_gene_variant MELA-AU 10 50153794 50153794 single base substitution T G intron_variant MELA-AU 10 50153794 50153794 single base substitution T G upstream_gene_variant MELA-AU 10 50154108 50154108 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50154108 50154108 single base substitution G A exon_variant MELA-AU 10 50154108 50154108 single base substitution G A synonymous_variant K2591K 7773G>A MELA-AU 10 50154108 50154108 single base substitution G A synonymous_variant K677K 2031G>A MELA-AU 10 50154156 50154156 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50154156 50154156 single base substitution G A exon_variant MELA-AU 10 50154156 50154156 single base substitution G A synonymous_variant R2607R 7821G>A MELA-AU 10 50154156 50154156 single base substitution G A synonymous_variant R693R 2079G>A MELA-AU 10 50154734 50154734 single base substitution C G intron_variant MELA-AU 10 50154965 50154965 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50154965 50154965 single base substitution C T exon_variant MELA-AU 10 50154965 50154965 single base substitution C T missense_variant S2643F 7928C>T MELA-AU 10 50154965 50154965 single base substitution C T missense_variant S729F 2186C>T MELA-AU 10 50155166 50155166 single base substitution C T intron_variant MELA-AU 10 50155358 50155358 single base substitution G A intron_variant MELA-AU 10 50155732 50155732 single base substitution C T intron_variant MELA-AU 10 50155738 50155738 single base substitution C T intron_variant MELA-AU 10 50155811 50155811 single base substitution G A intron_variant MELA-AU 10 50155861 50155861 single base substitution G A intron_variant MELA-AU 10 50155921 50155921 single base substitution G A intron_variant MELA-AU 10 50156143 50156143 single base substitution G A intron_variant MELA-AU 10 50156204 50156204 single base substitution C T intron_variant MELA-AU 10 50156266 50156266 single base substitution C T intron_variant MELA-AU 10 50156276 50156276 single base substitution G A intron_variant MELA-AU 10 50156306 50156306 single base substitution C T intron_variant MELA-AU 10 50156308 50156308 single base substitution C T intron_variant MELA-AU 10 50156319 50156319 single base substitution C T intron_variant MELA-AU 10 50156329 50156329 single base substitution A T intron_variant MELA-AU 10 50156432 50156432 single base substitution G A intron_variant MELA-AU 10 50156435 50156435 single base substitution C T intron_variant MELA-AU 10 50156457 50156457 single base substitution G A intron_variant MELA-AU 10 50156563 50156563 single base substitution C T intron_variant MELA-AU 10 50156583 50156583 single base substitution G A intron_variant MELA-AU 10 50156655 50156655 single base substitution T A intron_variant MELA-AU 10 50156759 50156759 single base substitution G A intron_variant MELA-AU 10 50156827 50156827 single base substitution C T intron_variant MELA-AU 10 50156939 50156939 single base substitution C T intron_variant MELA-AU 10 50157018 50157018 single base substitution C T intron_variant MELA-AU 10 50157051 50157051 single base substitution C T intron_variant MELA-AU 10 50157089 50157089 single base substitution A G intron_variant MELA-AU 10 50157118 50157118 single base substitution C T intron_variant MELA-AU 10 50157171 50157171 single base substitution C T intron_variant MELA-AU 10 50157227 50157227 single base substitution G A intron_variant MELA-AU 10 50157383 50157383 single base substitution G A intron_variant MELA-AU 10 50157418 50157418 single base substitution A G intron_variant MELA-AU 10 50157460 50157460 single base substitution C T intron_variant MELA-AU 10 50157463 50157463 single base substitution C T intron_variant MELA-AU 10 50157524 50157524 single base substitution C T intron_variant MELA-AU 10 50157528 50157528 single base substitution C T intron_variant MELA-AU 10 50157546 50157546 single base substitution C T intron_variant MELA-AU 10 50157755 50157755 single base substitution G A intron_variant MELA-AU 10 50157899 50157899 single base substitution C T intron_variant MELA-AU 10 50157939 50157939 single base substitution G A intron_variant MELA-AU 10 50158307 50158307 single base substitution T C intron_variant MELA-AU 10 50158348 50158349 multiple base substitution (>=2bp and <=200bp) CT TA intron_variant MELA-AU 10 50158380 50158380 single base substitution C T intron_variant MELA-AU 10 50158421 50158421 single base substitution C T intron_variant MELA-AU 10 50158425 50158425 single base substitution C G intron_variant MELA-AU 10 50158447 50158447 single base substitution T A intron_variant MELA-AU 10 50158589 50158589 single base substitution G A intron_variant MELA-AU 10 50158606 50158606 single base substitution G A intron_variant MELA-AU 10 50158618 50158618 single base substitution C T intron_variant MELA-AU 10 50158659 50158659 single base substitution G A intron_variant MELA-AU 10 50158725 50158725 single base substitution G A intron_variant MELA-AU 10 50158778 50158778 single base substitution C T intron_variant MELA-AU 10 50159239 50159239 single base substitution C T intron_variant MELA-AU 10 50159360 50159360 single base substitution G A intron_variant MELA-AU 10 50159400 50159400 single base substitution C T intron_variant MELA-AU 10 50159418 50159418 single base substitution G A intron_variant MELA-AU 10 50159428 50159428 single base substitution C T intron_variant MELA-AU 10 50159545 50159545 single base substitution G A intron_variant MELA-AU 10 50159693 50159705 deletion of <=200bp TAAAGACGGGGTC - intron_variant MELA-AU 10 50160047 50160047 single base substitution C T intron_variant MELA-AU 10 50160088 50160088 single base substitution G A intron_variant MELA-AU 10 50160404 50160404 single base substitution C T intron_variant MELA-AU 10 50160547 50160547 single base substitution C T intron_variant MELA-AU 10 50160902 50160902 single base substitution C T intron_variant MELA-AU 10 50160937 50160937 single base substitution T A intron_variant MELA-AU 10 50161050 50161050 single base substitution C T intron_variant MELA-AU 10 50161193 50161193 single base substitution G A intron_variant MELA-AU 10 50161198 50161198 single base substitution C T intron_variant MELA-AU 10 50161278 50161278 single base substitution G A intron_variant MELA-AU 10 50161292 50161292 single base substitution G A intron_variant MELA-AU 10 50161384 50161384 single base substitution A T intron_variant MELA-AU 10 50161560 50161560 single base substitution C T intron_variant MELA-AU 10 50161772 50161772 single base substitution G A intron_variant MELA-AU 10 50161852 50161852 single base substitution C T intron_variant MELA-AU 10 50161973 50161973 single base substitution G A intron_variant MELA-AU 10 50162356 50162356 single base substitution C T intron_variant MELA-AU 10 50162398 50162398 single base substitution C T intron_variant MELA-AU 10 50162426 50162426 single base substitution G A intron_variant MELA-AU 10 50162503 50162503 single base substitution C T intron_variant MELA-AU 10 50162540 50162540 single base substitution C T intron_variant MELA-AU 10 50162612 50162612 single base substitution T C intron_variant MELA-AU 10 50162760 50162760 single base substitution C T intron_variant MELA-AU 10 50162858 50162858 single base substitution G A intron_variant MELA-AU 10 50162961 50162961 single base substitution C T intron_variant MELA-AU 10 50163032 50163032 single base substitution A T intron_variant MELA-AU 10 50163059 50163059 single base substitution C T intron_variant MELA-AU 10 50163227 50163227 single base substitution C T intron_variant MELA-AU 10 50163281 50163281 single base substitution C T intron_variant MELA-AU 10 50163420 50163420 single base substitution C T intron_variant MELA-AU 10 50163477 50163477 single base substitution G A intron_variant MELA-AU 10 50163518 50163518 single base substitution C T intron_variant MELA-AU 10 50163572 50163572 single base substitution G A intron_variant MELA-AU 10 50163715 50163715 single base substitution C T intron_variant MELA-AU 10 50163831 50163831 single base substitution T C intron_variant MELA-AU 10 50163850 50163850 single base substitution G A intron_variant MELA-AU 10 50163851 50163851 single base substitution G A intron_variant MELA-AU 10 50164175 50164175 single base substitution G A intron_variant MELA-AU 10 50164198 50164198 single base substitution G A intron_variant MELA-AU 10 50164265 50164265 single base substitution C T intron_variant MELA-AU 10 50164379 50164379 single base substitution C T intron_variant MELA-AU 10 50164410 50164410 single base substitution C T intron_variant MELA-AU 10 50164422 50164422 single base substitution C T intron_variant MELA-AU 10 50164544 50164544 single base substitution C T intron_variant MELA-AU 10 50164567 50164567 single base substitution C T intron_variant MELA-AU 10 50164640 50164640 single base substitution C T intron_variant MELA-AU 10 50164685 50164685 single base substitution G A intron_variant MELA-AU 10 50164884 50164884 single base substitution C T intron_variant MELA-AU 10 50164920 50164920 single base substitution G A intron_variant MELA-AU 10 50164945 50164945 single base substitution C T intron_variant MELA-AU 10 50165081 50165081 single base substitution G A intron_variant MELA-AU 10 50165215 50165215 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50165215 50165215 single base substitution G A exon_variant MELA-AU 10 50165215 50165215 single base substitution G A synonymous_variant V2673V 8019G>A MELA-AU 10 50165215 50165215 single base substitution G A synonymous_variant V759V 2277G>A MELA-AU 10 50165264 50165264 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50165264 50165264 single base substitution G A exon_variant MELA-AU 10 50165264 50165264 single base substitution G A missense_variant E2690K 8068G>A MELA-AU 10 50165264 50165264 single base substitution G A missense_variant E776K 2326G>A MELA-AU 10 50165384 50165384 single base substitution A C intron_variant MELA-AU 10 50165431 50165431 single base substitution C T intron_variant MELA-AU 10 50165447 50165447 single base substitution C T intron_variant MELA-AU 10 50165483 50165483 single base substitution G A intron_variant MELA-AU 10 50165547 50165547 single base substitution G A intron_variant MELA-AU 10 50165565 50165565 single base substitution C T intron_variant MELA-AU 10 50165696 50165696 single base substitution C T intron_variant MELA-AU 10 50165920 50165920 single base substitution G A intron_variant MELA-AU 10 50165937 50165937 single base substitution G A intron_variant MELA-AU 10 50166100 50166100 single base substitution C T intron_variant MELA-AU 10 50166108 50166108 single base substitution T C intron_variant MELA-AU 10 50166112 50166112 single base substitution C T intron_variant MELA-AU 10 50166219 50166219 single base substitution G A intron_variant MELA-AU 10 50166220 50166220 single base substitution G A intron_variant MELA-AU 10 50166285 50166285 single base substitution G A intron_variant MELA-AU 10 50166330 50166330 single base substitution C T intron_variant MELA-AU 10 50166338 50166338 single base substitution A G intron_variant MELA-AU 10 50166383 50166383 single base substitution G A intron_variant MELA-AU 10 50166464 50166464 single base substitution G A intron_variant MELA-AU 10 50166467 50166467 single base substitution T C intron_variant MELA-AU 10 50166573 50166573 single base substitution G A intron_variant MELA-AU 10 50166595 50166595 single base substitution C T intron_variant MELA-AU 10 50166608 50166609 multiple base substitution (>=2bp and <=200bp) GG AA intron_variant MELA-AU 10 50166731 50166731 single base substitution G A intron_variant MELA-AU 10 50166810 50166810 single base substitution A T intron_variant MELA-AU 10 50166819 50166819 single base substitution G A intron_variant MELA-AU 10 50167197 50167197 single base substitution A T intron_variant MELA-AU 10 50167198 50167198 single base substitution G A intron_variant MELA-AU 10 50167226 50167226 single base substitution C T intron_variant MELA-AU 10 50167242 50167242 single base substitution G A intron_variant MELA-AU 10 50167244 50167244 single base substitution G A intron_variant MELA-AU 10 50167247 50167247 single base substitution A T intron_variant MELA-AU 10 50167274 50167274 single base substitution C T intron_variant MELA-AU 10 50167287 50167287 single base substitution G A intron_variant MELA-AU 10 50167319 50167319 single base substitution G A intron_variant MELA-AU 10 50167431 50167431 single base substitution A T intron_variant MELA-AU 10 50167452 50167452 single base substitution G A intron_variant MELA-AU 10 50167481 50167481 single base substitution G A intron_variant MELA-AU 10 50167503 50167503 single base substitution G A intron_variant MELA-AU 10 50167508 50167508 single base substitution C T intron_variant MELA-AU 10 50167557 50167557 single base substitution G A intron_variant MELA-AU 10 50167571 50167571 single base substitution G A intron_variant MELA-AU 10 50167608 50167608 single base substitution C T intron_variant MELA-AU 10 50167631 50167631 single base substitution G A intron_variant MELA-AU 10 50167716 50167716 single base substitution C T intron_variant MELA-AU 10 50167753 50167753 single base substitution C T intron_variant MELA-AU 10 50167833 50167833 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50167833 50167833 single base substitution G A exon_variant MELA-AU 10 50167833 50167833 single base substitution G A missense_variant R2733Q 8198G>A MELA-AU 10 50167833 50167833 single base substitution G A missense_variant R819Q 2456G>A MELA-AU 10 50167990 50167990 single base substitution G A intron_variant MELA-AU 10 50168161 50168161 single base substitution C T intron_variant MELA-AU 10 50168308 50168309 multiple base substitution (>=2bp and <=200bp) GG GA intron_variant MELA-AU 10 50168380 50168380 single base substitution G A intron_variant MELA-AU 10 50168457 50168457 single base substitution G A intron_variant MELA-AU 10 50168509 50168509 single base substitution T G intron_variant MELA-AU 10 50168740 50168740 single base substitution G A intron_variant MELA-AU 10 50168870 50168870 single base substitution G A intron_variant MELA-AU 10 50169002 50169002 single base substitution G A intron_variant MELA-AU 10 50169195 50169195 single base substitution C T intron_variant MELA-AU 10 50169197 50169197 single base substitution T C intron_variant MELA-AU 10 50169216 50169216 single base substitution C T intron_variant MELA-AU 10 50169255 50169255 single base substitution G A intron_variant MELA-AU 10 50169410 50169410 single base substitution G A intron_variant MELA-AU 10 50169464 50169464 single base substitution G A intron_variant MELA-AU 10 50169588 50169588 single base substitution G A intron_variant MELA-AU 10 50169636 50169636 single base substitution G A intron_variant MELA-AU 10 50169699 50169699 single base substitution C T intron_variant MELA-AU 10 50169755 50169755 single base substitution G A intron_variant MELA-AU 10 50170014 50170014 single base substitution G A intron_variant MELA-AU 10 50170336 50170336 single base substitution C T intron_variant MELA-AU 10 50170451 50170451 single base substitution C T intron_variant MELA-AU 10 50170549 50170549 single base substitution G A intron_variant MELA-AU 10 50170554 50170554 single base substitution C T intron_variant MELA-AU 10 50170574 50170574 single base substitution C T intron_variant MELA-AU 10 50170664 50170664 single base substitution G A intron_variant MELA-AU 10 50170803 50170803 single base substitution G A intron_variant MELA-AU 10 50170845 50170845 single base substitution C T intron_variant MELA-AU 10 50170853 50170853 single base substitution G A intron_variant MELA-AU 10 50170964 50170964 single base substitution G A intron_variant MELA-AU 10 50170970 50170970 single base substitution C T intron_variant MELA-AU 10 50171031 50171031 single base substitution G A intron_variant MELA-AU 10 50171156 50171156 single base substitution G C intron_variant MELA-AU 10 50171157 50171157 single base substitution G A intron_variant MELA-AU 10 50171253 50171253 single base substitution G A intron_variant MELA-AU 10 50171305 50171305 single base substitution C T intron_variant MELA-AU 10 50171499 50171499 single base substitution T C intron_variant MELA-AU 10 50171626 50171626 single base substitution C T intron_variant MELA-AU 10 50171659 50171659 single base substitution G A intron_variant MELA-AU 10 50171710 50171710 single base substitution G A intron_variant MELA-AU 10 50171778 50171778 single base substitution C T intron_variant MELA-AU 10 50171817 50171817 single base substitution C T intron_variant MELA-AU 10 50172045 50172045 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50172045 50172045 single base substitution C T exon_variant MELA-AU 10 50172045 50172045 single base substitution C T synonymous_variant L2794L 8382C>T MELA-AU 10 50172045 50172045 single base substitution C T synonymous_variant L880L 2640C>T MELA-AU 10 50172045 50172045 single base substitution C T upstream_gene_variant MELA-AU 10 50172060 50172060 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50172060 50172060 single base substitution C T exon_variant MELA-AU 10 50172060 50172060 single base substitution C T synonymous_variant I2799I 8397C>T MELA-AU 10 50172060 50172060 single base substitution C T synonymous_variant I885I 2655C>T MELA-AU 10 50172060 50172060 single base substitution C T upstream_gene_variant MELA-AU 10 50172376 50172376 single base substitution C T intron_variant MELA-AU 10 50172376 50172376 single base substitution C T upstream_gene_variant MELA-AU 10 50172542 50172542 single base substitution G A intron_variant MELA-AU 10 50172542 50172542 single base substitution G A upstream_gene_variant MELA-AU 10 50172710 50172710 single base substitution G A intron_variant MELA-AU 10 50172710 50172710 single base substitution G A upstream_gene_variant MELA-AU 10 50172808 50172808 single base substitution G A intron_variant MELA-AU 10 50172808 50172808 single base substitution G A upstream_gene_variant MELA-AU 10 50172846 50172846 single base substitution C T intron_variant MELA-AU 10 50172846 50172846 single base substitution C T upstream_gene_variant MELA-AU 10 50173034 50173034 single base substitution G C intron_variant MELA-AU 10 50173034 50173034 single base substitution G C upstream_gene_variant MELA-AU 10 50173049 50173049 single base substitution G A intron_variant MELA-AU 10 50173049 50173049 single base substitution G A upstream_gene_variant MELA-AU 10 50173101 50173101 single base substitution G A intron_variant MELA-AU 10 50173101 50173101 single base substitution G A upstream_gene_variant MELA-AU 10 50173103 50173103 single base substitution A T intron_variant MELA-AU 10 50173103 50173103 single base substitution A T upstream_gene_variant MELA-AU 10 50173191 50173191 single base substitution C T intron_variant MELA-AU 10 50173191 50173191 single base substitution C T upstream_gene_variant MELA-AU 10 50173375 50173375 single base substitution C T intron_variant MELA-AU 10 50173375 50173375 single base substitution C T upstream_gene_variant MELA-AU 10 50173572 50173572 single base substitution C T intron_variant MELA-AU 10 50173572 50173572 single base substitution C T upstream_gene_variant MELA-AU 10 50173819 50173819 single base substitution A G intron_variant MELA-AU 10 50173819 50173819 single base substitution A G upstream_gene_variant MELA-AU 10 50173936 50173936 single base substitution G A intron_variant MELA-AU 10 50173936 50173936 single base substitution G A upstream_gene_variant MELA-AU 10 50174083 50174083 single base substitution G A intron_variant MELA-AU 10 50174083 50174083 single base substitution G A upstream_gene_variant MELA-AU 10 50174097 50174097 single base substitution G A intron_variant MELA-AU 10 50174097 50174097 single base substitution G A upstream_gene_variant MELA-AU 10 50174109 50174109 single base substitution G A intron_variant MELA-AU 10 50174109 50174109 single base substitution G A upstream_gene_variant MELA-AU 10 50174227 50174227 single base substitution G A intron_variant MELA-AU 10 50174227 50174227 single base substitution G A upstream_gene_variant MELA-AU 10 50174319 50174319 single base substitution G A intron_variant MELA-AU 10 50174319 50174319 single base substitution G A upstream_gene_variant MELA-AU 10 50174611 50174611 single base substitution A G 3_prime_UTR_variant MELA-AU 10 50174611 50174611 single base substitution A G exon_variant MELA-AU 10 50174611 50174611 single base substitution A G missense_variant K2826R 8477A>G MELA-AU 10 50174611 50174611 single base substitution A G missense_variant K912R 2735A>G MELA-AU 10 50174611 50174611 single base substitution A G upstream_gene_variant MELA-AU 10 50174770 50174770 single base substitution C T exon_variant MELA-AU 10 50174770 50174770 single base substitution C T intron_variant MELA-AU 10 50174770 50174770 single base substitution C T upstream_gene_variant MELA-AU 10 50174887 50174887 single base substitution G A exon_variant MELA-AU 10 50174887 50174887 single base substitution G A intron_variant MELA-AU 10 50174887 50174887 single base substitution G A upstream_gene_variant MELA-AU 10 50175253 50175253 single base substitution C T exon_variant MELA-AU 10 50175253 50175253 single base substitution C T intron_variant MELA-AU 10 50175253 50175253 single base substitution C T upstream_gene_variant MELA-AU 10 50175626 50175626 single base substitution G A exon_variant MELA-AU 10 50175626 50175626 single base substitution G A intron_variant MELA-AU 10 50175626 50175626 single base substitution G A upstream_gene_variant MELA-AU 10 50175656 50175656 single base substitution C T exon_variant MELA-AU 10 50175656 50175656 single base substitution C T intron_variant MELA-AU 10 50175656 50175656 single base substitution C T upstream_gene_variant MELA-AU 10 50175676 50175676 single base substitution C T exon_variant MELA-AU 10 50175676 50175676 single base substitution C T intron_variant MELA-AU 10 50175676 50175676 single base substitution C T upstream_gene_variant MELA-AU 10 50175711 50175711 single base substitution G A exon_variant MELA-AU 10 50175711 50175711 single base substitution G A intron_variant MELA-AU 10 50175711 50175711 single base substitution G A upstream_gene_variant MELA-AU 10 50175712 50175712 single base substitution G A exon_variant MELA-AU 10 50175712 50175712 single base substitution G A intron_variant MELA-AU 10 50175712 50175712 single base substitution G A upstream_gene_variant MELA-AU 10 50175851 50175851 single base substitution C T exon_variant MELA-AU 10 50175851 50175851 single base substitution C T intron_variant MELA-AU 10 50175851 50175851 single base substitution C T upstream_gene_variant MELA-AU 10 50175875 50175875 single base substitution C T exon_variant MELA-AU 10 50175875 50175875 single base substitution C T intron_variant MELA-AU 10 50175875 50175875 single base substitution C T upstream_gene_variant MELA-AU 10 50175894 50175894 single base substitution C T exon_variant MELA-AU 10 50175894 50175894 single base substitution C T intron_variant MELA-AU 10 50175894 50175894 single base substitution C T upstream_gene_variant MELA-AU 10 50175976 50175976 single base substitution G A exon_variant MELA-AU 10 50175976 50175976 single base substitution G A intron_variant MELA-AU 10 50175976 50175976 single base substitution G A upstream_gene_variant MELA-AU 10 50176007 50176007 single base substitution G A exon_variant MELA-AU 10 50176007 50176007 single base substitution G A intron_variant MELA-AU 10 50176007 50176007 single base substitution G A upstream_gene_variant MELA-AU 10 50176146 50176146 single base substitution C T exon_variant MELA-AU 10 50176146 50176146 single base substitution C T intron_variant MELA-AU 10 50176146 50176146 single base substitution C T upstream_gene_variant MELA-AU 10 50176207 50176207 single base substitution G A exon_variant MELA-AU 10 50176207 50176207 single base substitution G A intron_variant MELA-AU 10 50176207 50176207 single base substitution G A upstream_gene_variant MELA-AU 10 50176324 50176324 single base substitution G A exon_variant MELA-AU 10 50176324 50176324 single base substitution G A intron_variant MELA-AU 10 50176324 50176324 single base substitution G A upstream_gene_variant MELA-AU 10 50176395 50176395 single base substitution A T exon_variant MELA-AU 10 50176395 50176395 single base substitution A T intron_variant MELA-AU 10 50176395 50176395 single base substitution A T upstream_gene_variant MELA-AU 10 50176443 50176443 single base substitution C T exon_variant MELA-AU 10 50176443 50176443 single base substitution C T intron_variant MELA-AU 10 50176443 50176443 single base substitution C T upstream_gene_variant MELA-AU 10 50176479 50176479 single base substitution C T exon_variant MELA-AU 10 50176479 50176479 single base substitution C T intron_variant MELA-AU 10 50176479 50176479 single base substitution C T upstream_gene_variant MELA-AU 10 50176481 50176481 single base substitution C T exon_variant MELA-AU 10 50176481 50176481 single base substitution C T intron_variant MELA-AU 10 50176481 50176481 single base substitution C T upstream_gene_variant MELA-AU 10 50176487 50176487 single base substitution C T exon_variant MELA-AU 10 50176487 50176487 single base substitution C T intron_variant MELA-AU 10 50176487 50176487 single base substitution C T upstream_gene_variant MELA-AU 10 50176511 50176511 single base substitution G A exon_variant MELA-AU 10 50176511 50176511 single base substitution G A intron_variant MELA-AU 10 50176511 50176511 single base substitution G A upstream_gene_variant MELA-AU 10 50176526 50176526 single base substitution C T exon_variant MELA-AU 10 50176526 50176526 single base substitution C T intron_variant MELA-AU 10 50176526 50176526 single base substitution C T upstream_gene_variant MELA-AU 10 50176556 50176556 single base substitution G A exon_variant MELA-AU 10 50176556 50176556 single base substitution G A intron_variant MELA-AU 10 50176556 50176556 single base substitution G A upstream_gene_variant MELA-AU 10 50176737 50176737 single base substitution G A exon_variant MELA-AU 10 50176737 50176737 single base substitution G A intron_variant MELA-AU 10 50176737 50176737 single base substitution G A upstream_gene_variant MELA-AU 10 50176818 50176818 single base substitution C T exon_variant MELA-AU 10 50176818 50176818 single base substitution C T intron_variant MELA-AU 10 50176818 50176818 single base substitution C T upstream_gene_variant MELA-AU 10 50176860 50176860 single base substitution G A exon_variant MELA-AU 10 50176860 50176860 single base substitution G A intron_variant MELA-AU 10 50176860 50176860 single base substitution G A upstream_gene_variant MELA-AU 10 50176865 50176865 single base substitution G A exon_variant MELA-AU 10 50176865 50176865 single base substitution G A intron_variant MELA-AU 10 50176865 50176865 single base substitution G A upstream_gene_variant MELA-AU 10 50176971 50176971 single base substitution G A exon_variant MELA-AU 10 50176971 50176971 single base substitution G A intron_variant MELA-AU 10 50176971 50176971 single base substitution G A upstream_gene_variant MELA-AU 10 50177102 50177102 single base substitution G A exon_variant MELA-AU 10 50177102 50177102 single base substitution G A splice_region_variant MELA-AU 10 50177139 50177140 multiple base substitution (>=2bp and <=200bp) CC TT 3_prime_UTR_variant MELA-AU 10 50177139 50177140 multiple base substitution (>=2bp and <=200bp) CC TT exon_variant MELA-AU 10 50177139 50177140 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant S2872F 8615CC>TT MELA-AU 10 50177139 50177140 multiple base substitution (>=2bp and <=200bp) CC TT missense_variant S958F 2873CC>TT MELA-AU 10 50177143 50177143 single base substitution C A 3_prime_UTR_variant MELA-AU 10 50177143 50177143 single base substitution C A exon_variant MELA-AU 10 50177143 50177143 single base substitution C A synonymous_variant P2873P 8619C>A MELA-AU 10 50177143 50177143 single base substitution C A synonymous_variant P959P 2877C>A MELA-AU 10 50177283 50177283 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50177283 50177283 single base substitution G A exon_variant MELA-AU 10 50177283 50177283 single base substitution G A missense_variant G1006D 3017G>A MELA-AU 10 50177283 50177283 single base substitution G A missense_variant G2920D 8759G>A MELA-AU 10 50177299 50177299 single base substitution G A intron_variant MELA-AU 10 50177299 50177299 single base substitution G A splice_region_variant MELA-AU 10 50177340 50177340 single base substitution C T intron_variant MELA-AU 10 50177402 50177402 single base substitution C T intron_variant MELA-AU 10 50177436 50177436 single base substitution G A intron_variant MELA-AU 10 50177593 50177593 single base substitution G A intron_variant MELA-AU 10 50177625 50177625 single base substitution G A intron_variant MELA-AU 10 50177683 50177683 single base substitution C T intron_variant MELA-AU 10 50177811 50177811 single base substitution G A intron_variant MELA-AU 10 50177816 50177816 single base substitution C T intron_variant MELA-AU 10 50177902 50177902 single base substitution C T intron_variant MELA-AU 10 50177931 50177931 single base substitution C T intron_variant MELA-AU 10 50177992 50177992 single base substitution G A intron_variant MELA-AU 10 50178071 50178071 single base substitution C T intron_variant MELA-AU 10 50178110 50178110 single base substitution G T intron_variant MELA-AU 10 50178169 50178169 single base substitution C T splice_region_variant MELA-AU 10 50178184 50178184 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50178184 50178184 single base substitution G A exon_variant MELA-AU 10 50178184 50178184 single base substitution G A missense_variant M1012I 3036G>A MELA-AU 10 50178184 50178184 single base substitution G A missense_variant M2926I 8778G>A MELA-AU 10 50178197 50178197 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50178197 50178197 single base substitution C T exon_variant MELA-AU 10 50178197 50178197 single base substitution C T synonymous_variant L1017L 3049C>T MELA-AU 10 50178197 50178197 single base substitution C T synonymous_variant L2931L 8791C>T MELA-AU 10 50178269 50178269 single base substitution A C 3_prime_UTR_variant MELA-AU 10 50178269 50178269 single base substitution A C exon_variant MELA-AU 10 50178269 50178269 single base substitution A C missense_variant T1041P 3121A>C MELA-AU 10 50178269 50178269 single base substitution A C missense_variant T2955P 8863A>C MELA-AU 10 50178287 50178287 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50178287 50178287 single base substitution G A exon_variant MELA-AU 10 50178287 50178287 single base substitution G A missense_variant E1047K 3139G>A MELA-AU 10 50178287 50178287 single base substitution G A missense_variant E2961K 8881G>A MELA-AU 10 50178363 50178363 single base substitution C T intron_variant MELA-AU 10 50178487 50178487 single base substitution G A intron_variant MELA-AU 10 50178495 50178495 single base substitution G A intron_variant MELA-AU 10 50178502 50178502 single base substitution G A intron_variant MELA-AU 10 50178544 50178544 single base substitution C T intron_variant MELA-AU 10 50178613 50178613 single base substitution G A intron_variant MELA-AU 10 50178674 50178674 single base substitution C T intron_variant MELA-AU 10 50178707 50178707 single base substitution C T intron_variant MELA-AU 10 50178730 50178730 single base substitution G A intron_variant MELA-AU 10 50178815 50178815 single base substitution G A intron_variant MELA-AU 10 50178851 50178851 single base substitution C T intron_variant MELA-AU 10 50178901 50178901 single base substitution G A intron_variant MELA-AU 10 50179068 50179068 single base substitution G A intron_variant MELA-AU 10 50179136 50179136 single base substitution C T intron_variant MELA-AU 10 50179174 50179174 single base substitution G A intron_variant MELA-AU 10 50179300 50179300 single base substitution G A intron_variant MELA-AU 10 50179337 50179337 single base substitution C T intron_variant MELA-AU 10 50179360 50179360 single base substitution T G intron_variant MELA-AU 10 50179673 50179673 single base substitution C T intron_variant MELA-AU 10 50179687 50179687 single base substitution C T intron_variant MELA-AU 10 50179717 50179717 single base substitution C T intron_variant MELA-AU 10 50179933 50179933 single base substitution G A intron_variant MELA-AU 10 50180053 50180053 single base substitution C T intron_variant MELA-AU 10 50180075 50180075 single base substitution G A intron_variant MELA-AU 10 50180093 50180093 single base substitution C T intron_variant MELA-AU 10 50180133 50180133 single base substitution C T intron_variant MELA-AU 10 50180153 50180153 single base substitution A T intron_variant MELA-AU 10 50180197 50180197 single base substitution A G intron_variant MELA-AU 10 50180240 50180240 single base substitution T C intron_variant MELA-AU 10 50180286 50180286 single base substitution G A intron_variant MELA-AU 10 50180294 50180294 single base substitution G A intron_variant MELA-AU 10 50180475 50180475 single base substitution C T intron_variant MELA-AU 10 50180685 50180685 single base substitution T C intron_variant MELA-AU 10 50180792 50180792 single base substitution C T intron_variant MELA-AU 10 50180991 50180991 single base substitution C T intron_variant MELA-AU 10 50181076 50181076 single base substitution G A intron_variant MELA-AU 10 50181203 50181203 single base substitution C T intron_variant MELA-AU 10 50181235 50181235 single base substitution C T intron_variant MELA-AU 10 50181380 50181380 single base substitution G A intron_variant MELA-AU 10 50181395 50181395 single base substitution T A intron_variant MELA-AU 10 50181395 50181395 single base substitution T A upstream_gene_variant MELA-AU 10 50181452 50181452 single base substitution G A intron_variant MELA-AU 10 50181452 50181452 single base substitution G A upstream_gene_variant MELA-AU 10 50181555 50181555 single base substitution G A intron_variant MELA-AU 10 50181555 50181555 single base substitution G A upstream_gene_variant MELA-AU 10 50181602 50181602 single base substitution A T intron_variant MELA-AU 10 50181602 50181602 single base substitution A T upstream_gene_variant MELA-AU 10 50181769 50181769 single base substitution G A intron_variant MELA-AU 10 50181769 50181769 single base substitution G A upstream_gene_variant MELA-AU 10 50181802 50181802 single base substitution C T intron_variant MELA-AU 10 50181802 50181802 single base substitution C T upstream_gene_variant MELA-AU 10 50181959 50181959 single base substitution G A intron_variant MELA-AU 10 50181959 50181959 single base substitution G A upstream_gene_variant MELA-AU 10 50181966 50181966 single base substitution C T intron_variant MELA-AU 10 50181966 50181966 single base substitution C T upstream_gene_variant MELA-AU 10 50182101 50182101 single base substitution G A intron_variant MELA-AU 10 50182101 50182101 single base substitution G A upstream_gene_variant MELA-AU 10 50182153 50182153 single base substitution G A intron_variant MELA-AU 10 50182153 50182153 single base substitution G A upstream_gene_variant MELA-AU 10 50182431 50182431 single base substitution C T intron_variant MELA-AU 10 50182431 50182431 single base substitution C T upstream_gene_variant MELA-AU 10 50182680 50182680 single base substitution C A intron_variant MELA-AU 10 50182680 50182680 single base substitution C A upstream_gene_variant MELA-AU 10 50182698 50182698 single base substitution A C intron_variant MELA-AU 10 50182698 50182698 single base substitution A C upstream_gene_variant MELA-AU 10 50182705 50182705 single base substitution G A intron_variant MELA-AU 10 50182705 50182705 single base substitution G A upstream_gene_variant MELA-AU 10 50182846 50182846 single base substitution G A intron_variant MELA-AU 10 50182846 50182846 single base substitution G A upstream_gene_variant MELA-AU 10 50182851 50182851 single base substitution C T intron_variant MELA-AU 10 50182851 50182851 single base substitution C T upstream_gene_variant MELA-AU 10 50183018 50183018 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50183018 50183018 single base substitution C T exon_variant MELA-AU 10 50183018 50183018 single base substitution C T missense_variant L1100F 3298C>T MELA-AU 10 50183018 50183018 single base substitution C T missense_variant L3014F 9040C>T MELA-AU 10 50183018 50183018 single base substitution C T upstream_gene_variant MELA-AU 10 50183024 50183024 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50183024 50183024 single base substitution C T exon_variant MELA-AU 10 50183024 50183024 single base substitution C T missense_variant H1102Y 3304C>T MELA-AU 10 50183024 50183024 single base substitution C T missense_variant H3016Y 9046C>T MELA-AU 10 50183024 50183024 single base substitution C T upstream_gene_variant MELA-AU 10 50183102 50183102 single base substitution C T intron_variant MELA-AU 10 50183102 50183102 single base substitution C T upstream_gene_variant MELA-AU 10 50183165 50183165 single base substitution G A intron_variant MELA-AU 10 50183165 50183165 single base substitution G A upstream_gene_variant MELA-AU 10 50183171 50183171 single base substitution G A intron_variant MELA-AU 10 50183171 50183171 single base substitution G A upstream_gene_variant MELA-AU 10 50183224 50183224 single base substitution C T intron_variant MELA-AU 10 50183224 50183224 single base substitution C T upstream_gene_variant MELA-AU 10 50183280 50183280 single base substitution T A intron_variant MELA-AU 10 50183280 50183280 single base substitution T A upstream_gene_variant MELA-AU 10 50183308 50183308 single base substitution G A intron_variant MELA-AU 10 50183308 50183308 single base substitution G A upstream_gene_variant MELA-AU 10 50183337 50183337 single base substitution G A intron_variant MELA-AU 10 50183337 50183337 single base substitution G A upstream_gene_variant MELA-AU 10 50183516 50183516 single base substitution G A intron_variant MELA-AU 10 50183516 50183516 single base substitution G A upstream_gene_variant MELA-AU 10 50183540 50183540 single base substitution T G intron_variant MELA-AU 10 50183540 50183540 single base substitution T G upstream_gene_variant MELA-AU 10 50183548 50183548 single base substitution G A intron_variant MELA-AU 10 50183548 50183548 single base substitution G A upstream_gene_variant MELA-AU 10 50183553 50183553 single base substitution G A intron_variant MELA-AU 10 50183553 50183553 single base substitution G A upstream_gene_variant MELA-AU 10 50183559 50183559 single base substitution C T intron_variant MELA-AU 10 50183559 50183559 single base substitution C T upstream_gene_variant MELA-AU 10 50183566 50183566 single base substitution G A intron_variant MELA-AU 10 50183566 50183566 single base substitution G A upstream_gene_variant MELA-AU 10 50183572 50183572 single base substitution G A intron_variant MELA-AU 10 50183572 50183572 single base substitution G A upstream_gene_variant MELA-AU 10 50183650 50183650 single base substitution G A intron_variant MELA-AU 10 50183650 50183650 single base substitution G A upstream_gene_variant MELA-AU 10 50183651 50183651 single base substitution G A intron_variant MELA-AU 10 50183651 50183651 single base substitution G A upstream_gene_variant MELA-AU 10 50183776 50183776 single base substitution T A intron_variant MELA-AU 10 50183776 50183776 single base substitution T A upstream_gene_variant MELA-AU 10 50183977 50183977 single base substitution G A intron_variant MELA-AU 10 50183977 50183977 single base substitution G A upstream_gene_variant MELA-AU 10 50184035 50184035 single base substitution G C intron_variant MELA-AU 10 50184035 50184035 single base substitution G C upstream_gene_variant MELA-AU 10 50184129 50184129 single base substitution T A intron_variant MELA-AU 10 50184129 50184129 single base substitution T A upstream_gene_variant MELA-AU 10 50184180 50184180 single base substitution G A intron_variant MELA-AU 10 50184180 50184180 single base substitution G A upstream_gene_variant MELA-AU 10 50184351 50184351 single base substitution G A intron_variant MELA-AU 10 50184351 50184351 single base substitution G A upstream_gene_variant MELA-AU 10 50184382 50184382 single base substitution G A intron_variant MELA-AU 10 50184382 50184382 single base substitution G A upstream_gene_variant MELA-AU 10 50184531 50184531 single base substitution G A intron_variant MELA-AU 10 50184531 50184531 single base substitution G A upstream_gene_variant MELA-AU 10 50184546 50184546 single base substitution T G intron_variant MELA-AU 10 50184546 50184546 single base substitution T G upstream_gene_variant MELA-AU 10 50184573 50184573 single base substitution G A intron_variant MELA-AU 10 50184573 50184573 single base substitution G A upstream_gene_variant MELA-AU 10 50184653 50184653 single base substitution A G intron_variant MELA-AU 10 50184653 50184653 single base substitution A G upstream_gene_variant MELA-AU 10 50184839 50184839 single base substitution C A intron_variant MELA-AU 10 50184839 50184839 single base substitution C A splice_region_variant MELA-AU 10 50184839 50184839 single base substitution C A upstream_gene_variant MELA-AU 10 50185021 50185021 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50185021 50185021 single base substitution C T downstream_gene_variant MELA-AU 10 50185021 50185021 single base substitution C T exon_variant MELA-AU 10 50185021 50185021 single base substitution C T synonymous_variant V1182V 3546C>T MELA-AU 10 50185021 50185021 single base substitution C T synonymous_variant V3096V 9288C>T MELA-AU 10 50185021 50185021 single base substitution C T upstream_gene_variant MELA-AU 10 50185157 50185157 single base substitution G A downstream_gene_variant MELA-AU 10 50185157 50185157 single base substitution G A intron_variant MELA-AU 10 50185157 50185157 single base substitution G A upstream_gene_variant MELA-AU 10 50185175 50185175 single base substitution T C downstream_gene_variant MELA-AU 10 50185175 50185175 single base substitution T C intron_variant MELA-AU 10 50185175 50185175 single base substitution T C upstream_gene_variant MELA-AU 10 50185185 50185185 single base substitution G A downstream_gene_variant MELA-AU 10 50185185 50185185 single base substitution G A intron_variant MELA-AU 10 50185185 50185185 single base substitution G A upstream_gene_variant MELA-AU 10 50185356 50185356 single base substitution C T downstream_gene_variant MELA-AU 10 50185356 50185356 single base substitution C T intron_variant MELA-AU 10 50185356 50185356 single base substitution C T upstream_gene_variant MELA-AU 10 50185491 50185491 single base substitution C T downstream_gene_variant MELA-AU 10 50185491 50185491 single base substitution C T intron_variant MELA-AU 10 50185491 50185491 single base substitution C T upstream_gene_variant MELA-AU 10 50185539 50185539 single base substitution C T downstream_gene_variant MELA-AU 10 50185539 50185539 single base substitution C T intron_variant MELA-AU 10 50185539 50185539 single base substitution C T upstream_gene_variant MELA-AU 10 50185816 50185816 single base substitution G T downstream_gene_variant MELA-AU 10 50185816 50185816 single base substitution G T intron_variant MELA-AU 10 50185816 50185816 single base substitution G T upstream_gene_variant MELA-AU 10 50185853 50185854 multiple base substitution (>=2bp and <=200bp) CC TT downstream_gene_variant MELA-AU 10 50185853 50185854 multiple base substitution (>=2bp and <=200bp) CC TT intron_variant MELA-AU 10 50185853 50185854 multiple base substitution (>=2bp and <=200bp) CC TT upstream_gene_variant MELA-AU 10 50185988 50185988 single base substitution G A downstream_gene_variant MELA-AU 10 50185988 50185988 single base substitution G A intron_variant MELA-AU 10 50185988 50185988 single base substitution G A upstream_gene_variant MELA-AU 10 50186228 50186228 single base substitution G A downstream_gene_variant MELA-AU 10 50186228 50186228 single base substitution G A intron_variant MELA-AU 10 50186228 50186228 single base substitution G A upstream_gene_variant MELA-AU 10 50186251 50186251 single base substitution C T downstream_gene_variant MELA-AU 10 50186251 50186251 single base substitution C T intron_variant MELA-AU 10 50186251 50186251 single base substitution C T upstream_gene_variant MELA-AU 10 50186255 50186255 single base substitution C T downstream_gene_variant MELA-AU 10 50186255 50186255 single base substitution C T intron_variant MELA-AU 10 50186255 50186255 single base substitution C T upstream_gene_variant MELA-AU 10 50186256 50186256 single base substitution C T downstream_gene_variant MELA-AU 10 50186256 50186256 single base substitution C T intron_variant MELA-AU 10 50186256 50186256 single base substitution C T upstream_gene_variant MELA-AU 10 50186312 50186312 single base substitution G A downstream_gene_variant MELA-AU 10 50186312 50186312 single base substitution G A intron_variant MELA-AU 10 50186312 50186312 single base substitution G A upstream_gene_variant MELA-AU 10 50186359 50186359 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50186359 50186359 single base substitution G A downstream_gene_variant MELA-AU 10 50186359 50186359 single base substitution G A exon_variant MELA-AU 10 50186359 50186359 single base substitution G A stop_gained W1185* 3555G>A MELA-AU 10 50186359 50186359 single base substitution G A stop_gained W3099* 9297G>A MELA-AU 10 50186359 50186359 single base substitution G A upstream_gene_variant MELA-AU 10 50186496 50186496 single base substitution C T downstream_gene_variant MELA-AU 10 50186496 50186496 single base substitution C T intron_variant MELA-AU 10 50186497 50186497 single base substitution C T downstream_gene_variant MELA-AU 10 50186497 50186497 single base substitution C T intron_variant MELA-AU 10 50186519 50186519 single base substitution G A downstream_gene_variant MELA-AU 10 50186519 50186519 single base substitution G A intron_variant MELA-AU 10 50186749 50186749 single base substitution C T downstream_gene_variant MELA-AU 10 50186749 50186749 single base substitution C T intron_variant MELA-AU 10 50186957 50186957 single base substitution G A downstream_gene_variant MELA-AU 10 50186957 50186957 single base substitution G A intron_variant MELA-AU 10 50186964 50186964 single base substitution C T downstream_gene_variant MELA-AU 10 50186964 50186964 single base substitution C T intron_variant MELA-AU 10 50187068 50187068 single base substitution G A downstream_gene_variant MELA-AU 10 50187068 50187068 single base substitution G A intron_variant MELA-AU 10 50187569 50187569 single base substitution G A downstream_gene_variant MELA-AU 10 50187569 50187569 single base substitution G A intron_variant MELA-AU 10 50187609 50187609 single base substitution T A downstream_gene_variant MELA-AU 10 50187609 50187609 single base substitution T A intron_variant MELA-AU 10 50187698 50187698 single base substitution G A downstream_gene_variant MELA-AU 10 50187698 50187698 single base substitution G A intron_variant MELA-AU 10 50188066 50188066 single base substitution G A downstream_gene_variant MELA-AU 10 50188066 50188066 single base substitution G A intron_variant MELA-AU 10 50188117 50188117 single base substitution C T downstream_gene_variant MELA-AU 10 50188117 50188117 single base substitution C T intron_variant MELA-AU 10 50188464 50188464 single base substitution G A downstream_gene_variant MELA-AU 10 50188464 50188464 single base substitution G A intron_variant MELA-AU 10 50188823 50188823 single base substitution G A downstream_gene_variant MELA-AU 10 50188823 50188823 single base substitution G A intron_variant MELA-AU 10 50188930 50188930 single base substitution T A downstream_gene_variant MELA-AU 10 50188930 50188930 single base substitution T A intron_variant MELA-AU 10 50189080 50189080 single base substitution C T downstream_gene_variant MELA-AU 10 50189080 50189080 single base substitution C T intron_variant MELA-AU 10 50190082 50190082 single base substitution C T intron_variant MELA-AU 10 50190200 50190200 single base substitution C T intron_variant MELA-AU 10 50190339 50190339 single base substitution G A intron_variant MELA-AU 10 50190372 50190372 single base substitution C T intron_variant MELA-AU 10 50190385 50190385 single base substitution G A intron_variant MELA-AU 10 50190400 50190400 single base substitution C T intron_variant MELA-AU 10 50190425 50190425 single base substitution G A intron_variant MELA-AU 10 50190450 50190450 single base substitution C T intron_variant MELA-AU 10 50190518 50190518 single base substitution C T intron_variant MELA-AU 10 50190743 50190743 single base substitution G A 3_prime_UTR_variant MELA-AU 10 50190743 50190743 single base substitution G A exon_variant MELA-AU 10 50190784 50190784 single base substitution C T 3_prime_UTR_variant MELA-AU 10 50190784 50190784 single base substitution C T exon_variant MELA-AU 10 50190945 50190946 multiple base substitution (>=2bp and <=200bp) TT CC 3_prime_UTR_variant MELA-AU 10 50190945 50190946 multiple base substitution (>=2bp and <=200bp) TT CC exon_variant MELA-AU 10 50191102 50191102 single base substitution G A downstream_gene_variant MELA-AU 10 50191577 50191577 single base substitution G A downstream_gene_variant MELA-AU 10 50191637 50191637 single base substitution G A downstream_gene_variant MELA-AU 10 50191834 50191834 single base substitution G A downstream_gene_variant MELA-AU 10 50191935 50191935 single base substitution G A downstream_gene_variant MELA-AU 10 50192029 50192029 single base substitution C T downstream_gene_variant MELA-AU 10 50192061 50192061 single base substitution G A downstream_gene_variant MELA-AU 10 50192092 50192093 multiple base substitution (>=2bp and <=200bp) GG AA downstream_gene_variant MELA-AU 10 50192291 50192291 single base substitution C T downstream_gene_variant MELA-AU 10 50192315 50192315 single base substitution C T downstream_gene_variant MELA-AU 10 50192329 50192329 single base substitution C T downstream_gene_variant MELA-AU 10 50192376 50192376 single base substitution G A downstream_gene_variant MELA-AU 10 50192500 50192500 single base substitution G A downstream_gene_variant MELA-AU 10 50192588 50192588 single base substitution C T downstream_gene_variant MELA-AU 10 50192594 50192594 single base substitution C T downstream_gene_variant MELA-AU 10 50192606 50192606 single base substitution G A downstream_gene_variant MELA-AU 10 50192647 50192647 single base substitution A C downstream_gene_variant MELA-AU 10 50192665 50192665 single base substitution C T downstream_gene_variant MELA-AU 10 50192734 50192734 single base substitution G A downstream_gene_variant MELA-AU 10 50192753 50192753 single base substitution G A downstream_gene_variant MELA-AU 10 50192758 50192758 single base substitution C T downstream_gene_variant MELA-AU 10 50192908 50192908 single base substitution G A downstream_gene_variant MELA-AU 10 50192997 50192997 single base substitution G A downstream_gene_variant MELA-AU 10 50193000 50193000 single base substitution G A downstream_gene_variant MELA-AU 10 50193096 50193096 single base substitution C T downstream_gene_variant MELA-AU 10 50193219 50193219 single base substitution C T downstream_gene_variant MELA-AU 10 50193224 50193224 single base substitution G A downstream_gene_variant MELA-AU 10 50193281 50193281 single base substitution G A downstream_gene_variant MELA-AU 10 50193457 50193457 single base substitution G A downstream_gene_variant MELA-AU 10 50193747 50193747 single base substitution C T downstream_gene_variant MELA-AU 10 50193784 50193784 single base substitution G A downstream_gene_variant MELA-AU 10 50193870 50193870 single base substitution G A downstream_gene_variant MELA-AU 10 50193877 50193877 single base substitution G A downstream_gene_variant MELA-AU 10 50193950 50193950 single base substitution G A downstream_gene_variant MELA-AU 10 50193986 50193986 single base substitution C T downstream_gene_variant MELA-AU 10 50194006 50194006 single base substitution G A downstream_gene_variant MELA-AU 10 50194046 50194046 single base substitution G A downstream_gene_variant MELA-AU 10 50194086 50194086 single base substitution G A downstream_gene_variant MELA-AU 10 50194170 50194170 single base substitution C T downstream_gene_variant MELA-AU 10 50194316 50194316 single base substitution C T downstream_gene_variant MELA-AU 10 50194425 50194425 single base substitution C T downstream_gene_variant MELA-AU 10 50194608 50194608 single base substitution C T downstream_gene_variant MELA-AU 10 50194660 50194660 single base substitution G A downstream_gene_variant MELA-AU 10 50194699 50194699 single base substitution G A downstream_gene_variant MELA-AU 10 50194762 50194762 single base substitution C T downstream_gene_variant MELA-AU 10 50194805 50194805 single base substitution C T downstream_gene_variant MELA-AU 10 50195016 50195016 single base substitution C T downstream_gene_variant MELA-AU 10 50195195 50195195 single base substitution G A downstream_gene_variant MELA-AU 10 50195313 50195313 single base substitution G A downstream_gene_variant MELA-AU 10 50195377 50195377 single base substitution G A downstream_gene_variant MELA-AU 10 50195425 50195425 single base substitution C T downstream_gene_variant MELA-AU 10 50195466 50195466 single base substitution C T downstream_gene_variant MELA-AU 10 50195493 50195493 single base substitution C T downstream_gene_variant MELA-AU 10 50195498 50195498 single base substitution C T downstream_gene_variant MELA-AU 10 50195499 50195499 single base substitution C T downstream_gene_variant MELA-AU 10 50195576 50195576 single base substitution G T downstream_gene_variant MELA-AU 10 50195586 50195586 single base substitution T A downstream_gene_variant MELA-AU 10 50195647 50195647 single base substitution C T downstream_gene_variant MELA-AU 10 50195688 50195688 single base substitution C T downstream_gene_variant MELA-AU 10 50195865 50195865 single base substitution C T downstream_gene_variant MELA-AU 10 50195911 50195911 single base substitution C T downstream_gene_variant MELA-AU 10 50195941 50195941 single base substitution G A downstream_gene_variant ORCA-IN 10 49892442 49892442 single base substitution A T upstream_gene_variant ORCA-IN 10 49931531 49931531 single base substitution C G missense_variant C170W 510C>G ORCA-IN 10 49933949 49933949 single base substitution C A missense_variant D205E 615C>A ORCA-IN 10 49939978 49939978 single base substitution C A intron_variant ORCA-IN 10 49944323 49944323 single base substitution T C downstream_gene_variant ORCA-IN 10 49944323 49944323 single base substitution T C intron_variant ORCA-IN 10 49963666 49963666 single base substitution C A intron_variant ORCA-IN 10 49969333 49969333 single base substitution A G intron_variant ORCA-IN 10 49969789 49969789 single base substitution G A intron_variant ORCA-IN 10 49972478 49972478 single base substitution G C intron_variant ORCA-IN 10 49994856 49994856 single base substitution A T intron_variant ORCA-IN 10 49994856 49994856 single base substitution A T missense_variant E1250V 3749A>T ORCA-IN 10 50001877 50001877 single base substitution C T intron_variant ORCA-IN 10 50002808 50002808 single base substitution G A intron_variant ORCA-IN 10 50017814 50017814 single base substitution C T intron_variant ORCA-IN 10 50028340 50028340 single base substitution G T 3_prime_UTR_variant ORCA-IN 10 50028340 50028340 single base substitution G T missense_variant S1856I 5567G>T ORCA-IN 10 50028340 50028340 single base substitution G T missense_variant S402I 1205G>T ORCA-IN 10 50028340 50028340 single base substitution G T upstream_gene_variant ORCA-IN 10 50032966 50032966 single base substitution C A downstream_gene_variant ORCA-IN 10 50032966 50032966 single base substitution C A intron_variant ORCA-IN 10 50037679 50037679 single base substitution A G intron_variant ORCA-IN 10 50041434 50041434 single base substitution C T intron_variant ORCA-IN 10 50050306 50050306 single base substitution C G intron_variant ORCA-IN 10 50064124 50064124 single base substitution G C intron_variant ORCA-IN 10 50065170 50065170 single base substitution G C intron_variant ORCA-IN 10 50075401 50075401 single base substitution C T intron_variant ORCA-IN 10 50082950 50082950 single base substitution T A intron_variant ORCA-IN 10 50089929 50089929 single base substitution C A intron_variant ORCA-IN 10 50122321 50122321 single base substitution G A intron_variant ORCA-IN 10 50139660 50139660 single base substitution G A intron_variant ORCA-IN 10 50144751 50144751 single base substitution C G intron_variant ORCA-IN 10 50150439 50150440 deletion of <=200bp GC - intron_variant ORCA-IN 10 50150439 50150440 deletion of <=200bp GC - upstream_gene_variant ORCA-IN 10 50154947 50154947 single base substitution C T 3_prime_UTR_variant ORCA-IN 10 50154947 50154947 single base substitution C T exon_variant ORCA-IN 10 50154947 50154947 single base substitution C T missense_variant S2637L 7910C>T ORCA-IN 10 50154947 50154947 single base substitution C T missense_variant S723L 2168C>T ORCA-IN 10 50158438 50158438 single base substitution G A intron_variant ORCA-IN 10 50165206 50165206 single base substitution C T 3_prime_UTR_variant ORCA-IN 10 50165206 50165206 single base substitution C T exon_variant ORCA-IN 10 50165206 50165206 single base substitution C T synonymous_variant F2670F 8010C>T ORCA-IN 10 50165206 50165206 single base substitution C T synonymous_variant F756F 2268C>T ORCA-IN 10 50182948 50182948 single base substitution G A 3_prime_UTR_variant ORCA-IN 10 50182948 50182948 single base substitution G A exon_variant ORCA-IN 10 50182948 50182948 single base substitution G A synonymous_variant A1076A 3228G>A ORCA-IN 10 50182948 50182948 single base substitution G A synonymous_variant A2990A 8970G>A ORCA-IN 10 50182948 50182948 single base substitution G A upstream_gene_variant ORCA-IN 10 50183070 50183070 single base substitution C A 3_prime_UTR_variant ORCA-IN 10 50183070 50183070 single base substitution C A exon_variant ORCA-IN 10 50183070 50183070 single base substitution C A missense_variant T1117N 3350C>A ORCA-IN 10 50183070 50183070 single base substitution C A missense_variant T3031N 9092C>A ORCA-IN 10 50183070 50183070 single base substitution C A upstream_gene_variant ORCA-IN 10 50195120 50195120 single base substitution C A downstream_gene_variant OV-AU 10 49892736 49892736 single base substitution A G upstream_gene_variant OV-AU 10 49894079 49894079 single base substitution G T intron_variant OV-AU 10 49894105 49894105 single base substitution G A intron_variant OV-AU 10 49897063 49897063 single base substitution T C intron_variant OV-AU 10 49899827 49899827 single base substitution C A intron_variant OV-AU 10 49905298 49905298 single base substitution T A intron_variant OV-AU 10 49905868 49905868 single base substitution A T intron_variant OV-AU 10 49906394 49906394 single base substitution C G intron_variant OV-AU 10 49907835 49907835 single base substitution G T intron_variant OV-AU 10 49913159 49913159 single base substitution A C intron_variant OV-AU 10 49913159 49913159 single base substitution A C upstream_gene_variant OV-AU 10 49913713 49913713 single base substitution C T intron_variant OV-AU 10 49913713 49913713 single base substitution C T upstream_gene_variant OV-AU 10 49917996 49917996 single base substitution C G synonymous_variant L73L 219C>G OV-AU 10 49919955 49919955 single base substitution G A intron_variant OV-AU 10 49921711 49921711 single base substitution C G intron_variant OV-AU 10 49925559 49925559 single base substitution C A intron_variant OV-AU 10 49925696 49925696 single base substitution A T intron_variant OV-AU 10 49931189 49931189 single base substitution A C intron_variant OV-AU 10 49933423 49933423 single base substitution G T intron_variant OV-AU 10 49933780 49933780 single base substitution T C intron_variant OV-AU 10 49935389 49935389 single base substitution C T intron_variant OV-AU 10 49939994 49939994 single base substitution G A intron_variant OV-AU 10 49940775 49940775 single base substitution G C intron_variant OV-AU 10 49941151 49941151 single base substitution C T intron_variant OV-AU 10 49946967 49946967 single base substitution T G downstream_gene_variant OV-AU 10 49946967 49946967 single base substitution T G intron_variant OV-AU 10 49951271 49951271 single base substitution G A missense_variant E713K 2137G>A OV-AU 10 49952119 49952119 single base substitution A C intron_variant OV-AU 10 49955235 49955235 single base substitution C A intron_variant OV-AU 10 49957894 49957894 single base substitution C T intron_variant OV-AU 10 49957921 49957921 single base substitution G A intron_variant OV-AU 10 49959864 49959864 single base substitution C A intron_variant OV-AU 10 49966269 49966269 single base substitution G A intron_variant OV-AU 10 49968552 49968552 single base substitution C A intron_variant OV-AU 10 49969369 49969369 single base substitution T C intron_variant OV-AU 10 49969637 49969637 single base substitution G A intron_variant OV-AU 10 49974460 49974460 single base substitution C A intron_variant OV-AU 10 49975905 49975905 single base substitution G C intron_variant OV-AU 10 49976376 49976376 single base substitution G A intron_variant OV-AU 10 49976665 49976665 single base substitution C A intron_variant OV-AU 10 49977543 49977543 single base substitution A C intron_variant OV-AU 10 49978217 49978217 single base substitution C T intron_variant OV-AU 10 49980025 49980025 single base substitution T C intron_variant OV-AU 10 49984646 49984646 single base substitution G A intron_variant OV-AU 10 49985314 49985314 single base substitution C G intron_variant OV-AU 10 49987369 49987369 single base substitution T G intron_variant OV-AU 10 49987444 49987444 single base substitution G T intron_variant OV-AU 10 49987559 49987559 single base substitution A G intron_variant OV-AU 10 49991139 49991139 single base substitution C G intron_variant OV-AU 10 49991529 49991529 single base substitution C T intron_variant OV-AU 10 49992126 49992126 single base substitution G T intron_variant OV-AU 10 49993628 49993628 single base substitution G T intron_variant OV-AU 10 49997861 49997861 single base substitution G A intron_variant OV-AU 10 49999600 49999600 single base substitution C G intron_variant OV-AU 10 50003300 50003300 single base substitution G T intron_variant OV-AU 10 50003684 50003684 single base substitution G T intron_variant OV-AU 10 50006946 50006946 single base substitution G A intron_variant OV-AU 10 50006946 50006946 single base substitution G A upstream_gene_variant OV-AU 10 50007337 50007337 single base substitution T A intron_variant OV-AU 10 50007337 50007337 single base substitution T A upstream_gene_variant OV-AU 10 50012535 50012535 single base substitution A G intron_variant OV-AU 10 50016458 50016458 single base substitution G A intron_variant OV-AU 10 50017759 50017759 single base substitution G A intron_variant OV-AU 10 50017872 50017872 single base substitution T C intron_variant OV-AU 10 50017920 50017920 single base substitution A C intron_variant OV-AU 10 50019639 50019639 single base substitution G T 3_prime_UTR_variant OV-AU 10 50019639 50019639 single base substitution G T synonymous_variant G1700G 5100G>T OV-AU 10 50019639 50019639 single base substitution G T synonymous_variant G246G 738G>T OV-AU 10 50021180 50021180 single base substitution A G intron_variant OV-AU 10 50022916 50022916 single base substitution C G intron_variant OV-AU 10 50025348 50025348 single base substitution A G 3_prime_UTR_variant OV-AU 10 50025348 50025348 single base substitution A G missense_variant Q1800R 5399A>G OV-AU 10 50025348 50025348 single base substitution A G missense_variant Q346R 1037A>G OV-AU 10 50025348 50025348 single base substitution A G upstream_gene_variant OV-AU 10 50027568 50027568 single base substitution G A intron_variant OV-AU 10 50027568 50027568 single base substitution G A upstream_gene_variant OV-AU 10 50028612 50028612 single base substitution C G intron_variant OV-AU 10 50028612 50028612 single base substitution C G upstream_gene_variant OV-AU 10 50028911 50028911 single base substitution C A intron_variant OV-AU 10 50028911 50028911 single base substitution C A upstream_gene_variant OV-AU 10 50028912 50028912 single base substitution T C intron_variant OV-AU 10 50028912 50028912 single base substitution T C upstream_gene_variant OV-AU 10 50029887 50029887 single base substitution G T intron_variant OV-AU 10 50032611 50032611 single base substitution C T downstream_gene_variant OV-AU 10 50032611 50032611 single base substitution C T intron_variant OV-AU 10 50033176 50033176 single base substitution G T downstream_gene_variant OV-AU 10 50033176 50033176 single base substitution G T intron_variant OV-AU 10 50034874 50034874 single base substitution T G 3_prime_UTR_variant OV-AU 10 50034874 50034874 single base substitution T G downstream_gene_variant OV-AU 10 50034874 50034874 single base substitution T G missense_variant D133E 399T>G OV-AU 10 50034874 50034874 single base substitution T G missense_variant D2047E 6141T>G OV-AU 10 50036129 50036129 single base substitution C A downstream_gene_variant OV-AU 10 50036129 50036129 single base substitution C A intron_variant OV-AU 10 50044011 50044011 single base substitution T G intron_variant OV-AU 10 50046138 50046138 single base substitution G C intron_variant OV-AU 10 50056155 50056155 single base substitution G A intron_variant OV-AU 10 50059708 50059708 single base substitution A G intron_variant OV-AU 10 50060802 50060802 single base substitution T A intron_variant OV-AU 10 50061199 50061199 single base substitution T C intron_variant OV-AU 10 50065305 50065305 single base substitution A G intron_variant OV-AU 10 50065930 50065930 single base substitution A T intron_variant OV-AU 10 50068628 50068628 single base substitution G A intron_variant OV-AU 10 50071943 50071943 single base substitution G A intron_variant OV-AU 10 50074844 50074844 single base substitution G A intron_variant OV-AU 10 50076295 50076295 single base substitution A G intron_variant OV-AU 10 50078086 50078086 single base substitution G T intron_variant OV-AU 10 50079140 50079140 single base substitution A G intron_variant OV-AU 10 50079160 50079160 single base substitution T A intron_variant OV-AU 10 50079223 50079223 single base substitution G A intron_variant OV-AU 10 50079785 50079785 single base substitution G A intron_variant OV-AU 10 50080830 50080830 single base substitution A G intron_variant OV-AU 10 50081575 50081575 single base substitution G C 3_prime_UTR_variant OV-AU 10 50081575 50081575 single base substitution G C missense_variant A2261P 6781G>C OV-AU 10 50081575 50081575 single base substitution G C missense_variant A347P 1039G>C OV-AU 10 50085064 50085064 single base substitution T G intron_variant OV-AU 10 50087278 50087278 single base substitution G T intron_variant OV-AU 10 50088432 50088432 single base substitution C T intron_variant OV-AU 10 50088470 50088470 single base substitution C T intron_variant OV-AU 10 50090543 50090543 single base substitution G T intron_variant OV-AU 10 50092312 50092312 single base substitution G C intron_variant OV-AU 10 50094555 50094555 single base substitution G C intron_variant OV-AU 10 50102449 50102449 single base substitution G T intron_variant OV-AU 10 50102691 50102691 single base substitution G A intron_variant OV-AU 10 50106046 50106046 single base substitution C A intron_variant OV-AU 10 50107898 50107898 single base substitution C T intron_variant OV-AU 10 50108350 50108350 single base substitution A T missense_variant S2508C 7522A>T OV-AU 10 50108350 50108350 single base substitution A T missense_variant S594C 1780A>T OV-AU 10 50108350 50108350 single base substitution A T splice_region_variant OV-AU 10 50109451 50109451 single base substitution G A intron_variant OV-AU 10 50109452 50109452 single base substitution C T intron_variant OV-AU 10 50112563 50112563 single base substitution G T intron_variant OV-AU 10 50121306 50121306 single base substitution G T intron_variant OV-AU 10 50121646 50121646 single base substitution C T intron_variant OV-AU 10 50122384 50122384 single base substitution T C intron_variant OV-AU 10 50127380 50127380 single base substitution G A intron_variant OV-AU 10 50127443 50127443 single base substitution C A intron_variant OV-AU 10 50129265 50129265 single base substitution T A intron_variant OV-AU 10 50133709 50133709 single base substitution G C intron_variant OV-AU 10 50134203 50134203 single base substitution C T intron_variant OV-AU 10 50135269 50135269 single base substitution G A intron_variant OV-AU 10 50136900 50136900 single base substitution C G intron_variant OV-AU 10 50139074 50139074 single base substitution A T intron_variant OV-AU 10 50140828 50140828 single base substitution T C intron_variant OV-AU 10 50141406 50141406 single base substitution G A intron_variant OV-AU 10 50144992 50144992 single base substitution C G intron_variant OV-AU 10 50148347 50148347 single base substitution A T intron_variant OV-AU 10 50148949 50148949 single base substitution G A intron_variant OV-AU 10 50150446 50150446 single base substitution C T intron_variant OV-AU 10 50150446 50150446 single base substitution C T upstream_gene_variant OV-AU 10 50151800 50151800 single base substitution G T intron_variant OV-AU 10 50151800 50151800 single base substitution G T upstream_gene_variant OV-AU 10 50152615 50152615 single base substitution A C intron_variant OV-AU 10 50152615 50152615 single base substitution A C upstream_gene_variant OV-AU 10 50157069 50157069 single base substitution A G intron_variant OV-AU 10 50158287 50158287 single base substitution T A intron_variant OV-AU 10 50161605 50161605 single base substitution A T intron_variant OV-AU 10 50162017 50162017 single base substitution C A intron_variant OV-AU 10 50163273 50163273 single base substitution G T intron_variant OV-AU 10 50167115 50167115 single base substitution T G intron_variant OV-AU 10 50170480 50170480 single base substitution C T intron_variant OV-AU 10 50173206 50173206 single base substitution T C intron_variant OV-AU 10 50173206 50173206 single base substitution T C upstream_gene_variant OV-AU 10 50175170 50175170 single base substitution A T exon_variant OV-AU 10 50175170 50175170 single base substitution A T intron_variant OV-AU 10 50175170 50175170 single base substitution A T upstream_gene_variant OV-AU 10 50176779 50176779 single base substitution G T exon_variant OV-AU 10 50176779 50176779 single base substitution G T intron_variant OV-AU 10 50176779 50176779 single base substitution G T upstream_gene_variant OV-AU 10 50177018 50177018 single base substitution A G exon_variant OV-AU 10 50177018 50177018 single base substitution A G intron_variant OV-AU 10 50177018 50177018 single base substitution A G upstream_gene_variant OV-AU 10 50177797 50177797 single base substitution C T intron_variant OV-AU 10 50179827 50179827 single base substitution G A intron_variant OV-AU 10 50180542 50180542 single base substitution T C intron_variant OV-AU 10 50181496 50181496 single base substitution G A intron_variant OV-AU 10 50181496 50181496 single base substitution G A upstream_gene_variant OV-AU 10 50185332 50185332 single base substitution A T downstream_gene_variant OV-AU 10 50185332 50185332 single base substitution A T intron_variant OV-AU 10 50185332 50185332 single base substitution A T upstream_gene_variant OV-AU 10 50186737 50186737 single base substitution C A downstream_gene_variant OV-AU 10 50186737 50186737 single base substitution C A intron_variant OV-AU 10 50187739 50187739 single base substitution C T downstream_gene_variant OV-AU 10 50187739 50187739 single base substitution C T intron_variant OV-AU 10 50190587 50190587 single base substitution G T 3_prime_UTR_variant OV-AU 10 50190587 50190587 single base substitution G T exon_variant OV-AU 10 50190587 50190587 single base substitution G T intron_variant OV-AU 10 50190587 50190587 single base substitution G T missense_variant R1260S 3780G>T OV-AU 10 50190587 50190587 single base substitution G T missense_variant R3174S 9522G>T OV-AU 10 50190943 50190943 single base substitution G C 3_prime_UTR_variant OV-AU 10 50190943 50190943 single base substitution G C exon_variant OV-AU 10 50194195 50194195 single base substitution G A downstream_gene_variant OV-AU 10 50195482 50195482 single base substitution G T downstream_gene_variant PACA-AU 10 49888440 49888440 single base substitution T C upstream_gene_variant PACA-AU 10 49890205 49890205 single base substitution A T upstream_gene_variant PACA-AU 10 49896474 49896474 single base substitution C T intron_variant PACA-AU 10 49900003 49900003 single base substitution G A intron_variant PACA-AU 10 49901709 49901709 single base substitution C T intron_variant PACA-AU 10 49901943 49901943 single base substitution G T intron_variant PACA-AU 10 49902381 49902381 deletion of <=200bp C - intron_variant PACA-AU 10 49902678 49902678 single base substitution G T intron_variant PACA-AU 10 49902732 49902732 single base substitution C T intron_variant PACA-AU 10 49902813 49902813 single base substitution G A intron_variant PACA-AU 10 49907023 49907023 single base substitution C T intron_variant PACA-AU 10 49907995 49907995 single base substitution G A intron_variant PACA-AU 10 49908909 49908909 single base substitution T C intron_variant PACA-AU 10 49909379 49909379 single base substitution T C intron_variant PACA-AU 10 49909678 49909678 single base substitution G C intron_variant PACA-AU 10 49910643 49910643 single base substitution T C intron_variant PACA-AU 10 49914180 49914180 insertion of <=200bp - GA intron_variant PACA-AU 10 49914180 49914180 insertion of <=200bp - GA upstream_gene_variant PACA-AU 10 49917772 49917772 single base substitution C T 5_prime_UTR_variant PACA-AU 10 49917815 49917815 single base substitution A T missense_variant N13I 38A>T PACA-AU 10 49917842 49917842 single base substitution G A missense_variant G22E 65G>A PACA-AU 10 49922448 49922448 single base substitution G T intron_variant PACA-AU 10 49923957 49923957 single base substitution G C intron_variant PACA-AU 10 49925082 49925082 single base substitution C T intron_variant PACA-AU 10 49926755 49926755 single base substitution C T intron_variant PACA-AU 10 49929391 49929391 single base substitution C T synonymous_variant Y145Y 435C>T PACA-AU 10 49932452 49932452 single base substitution G A intron_variant PACA-AU 10 49933923 49933923 single base substitution C A splice_region_variant PACA-AU 10 49934197 49934197 single base substitution T A intron_variant PACA-AU 10 49937021 49937021 single base substitution T C intron_variant PACA-AU 10 49937172 49937172 single base substitution C T intron_variant PACA-AU 10 49937992 49937992 single base substitution A G intron_variant PACA-AU 10 49939474 49939474 single base substitution C A synonymous_variant T483T 1449C>A PACA-AU 10 49948198 49948198 single base substitution T G downstream_gene_variant PACA-AU 10 49948198 49948198 single base substitution T G intron_variant PACA-AU 10 49950643 49950643 single base substitution G A intron_variant PACA-AU 10 49951070 49951070 single base substitution G A missense_variant G646R 1936G>A PACA-AU 10 49951559 49951559 single base substitution C T missense_variant R809C 2425C>T PACA-AU 10 49953241 49953241 single base substitution A C intron_variant PACA-AU 10 49953996 49953996 single base substitution A T intron_variant PACA-AU 10 49956460 49956460 single base substitution T A intron_variant PACA-AU 10 49957366 49957366 single base substitution C T intron_variant PACA-AU 10 49957568 49957568 single base substitution C A intron_variant PACA-AU 10 49958501 49958501 single base substitution C T intron_variant PACA-AU 10 49958673 49958673 single base substitution G T intron_variant PACA-AU 10 49958674 49958674 single base substitution A G intron_variant PACA-AU 10 49961175 49961175 deletion of <=200bp T - intron_variant PACA-AU 10 49967112 49967112 single base substitution C G intron_variant PACA-AU 10 49967780 49967780 single base substitution C A intron_variant PACA-AU 10 49969938 49969938 single base substitution G A intron_variant PACA-AU 10 49970823 49970823 single base substitution C T intron_variant PACA-AU 10 49972165 49972165 single base substitution C A intron_variant PACA-AU 10 49973855 49973855 single base substitution C T intron_variant PACA-AU 10 49978170 49978170 single base substitution C A intron_variant PACA-AU 10 49979469 49979469 single base substitution A C intron_variant PACA-AU 10 49980447 49980447 single base substitution C T intron_variant PACA-AU 10 49982319 49982319 insertion of <=200bp - C intron_variant PACA-AU 10 49982325 49982325 deletion of <=200bp G - intron_variant PACA-AU 10 49982552 49982552 single base substitution T A missense_variant V868E 2603T>A PACA-AU 10 49984541 49984541 single base substitution G C intron_variant PACA-AU 10 49984956 49984956 single base substitution C T missense_variant H1009Y 3025C>T PACA-AU 10 49984956 49984956 single base substitution C T missense_variant R1009C 3025C>T PACA-AU 10 49984981 49984981 single base substitution C A intron_variant PACA-AU 10 49984981 49984981 single base substitution C A missense_variant A1017D 3050C>A PACA-AU 10 49985221 49985221 single base substitution G T intron_variant PACA-AU 10 49985424 49985424 single base substitution G T intron_variant PACA-AU 10 49985656 49985656 single base substitution C T intron_variant PACA-AU 10 49986264 49986264 single base substitution G A intron_variant PACA-AU 10 49986796 49986797 deletion of <=200bp TT - frameshift_variant F1106 PACA-AU 10 49986796 49986797 deletion of <=200bp TT - intron_variant PACA-AU 10 49987498 49987498 single base substitution T G intron_variant PACA-AU 10 49989161 49989161 single base substitution G A intron_variant PACA-AU 10 49989277 49989277 single base substitution G A intron_variant PACA-AU 10 49992117 49992117 single base substitution G A intron_variant PACA-AU 10 49993004 49993004 single base substitution G A intron_variant PACA-AU 10 49993324 49993324 single base substitution G A intron_variant PACA-AU 10 49995852 49995852 single base substitution C T intron_variant PACA-AU 10 49995977 49995977 single base substitution T C intron_variant PACA-AU 10 49998056 49998056 single base substitution G A intron_variant PACA-AU 10 49998265 49998265 single base substitution C G intron_variant PACA-AU 10 50001110 50001110 single base substitution G A intron_variant PACA-AU 10 50004295 50004295 single base substitution C G intron_variant PACA-AU 10 50006573 50006573 single base substitution T G intron_variant PACA-AU 10 50006573 50006573 single base substitution T G upstream_gene_variant PACA-AU 10 50006723 50006723 single base substitution A T intron_variant PACA-AU 10 50006723 50006723 single base substitution A T upstream_gene_variant PACA-AU 10 50007461 50007461 single base substitution C T intron_variant PACA-AU 10 50007461 50007461 single base substitution C T upstream_gene_variant PACA-AU 10 50007691 50007691 single base substitution G A intron_variant PACA-AU 10 50007691 50007691 single base substitution G A upstream_gene_variant PACA-AU 10 50008840 50008840 single base substitution C T intron_variant PACA-AU 10 50008840 50008840 single base substitution C T upstream_gene_variant PACA-AU 10 50009360 50009360 single base substitution C A intron_variant PACA-AU 10 50009360 50009360 single base substitution C A upstream_gene_variant PACA-AU 10 50009428 50009428 single base substitution G A intron_variant PACA-AU 10 50009428 50009428 single base substitution G A upstream_gene_variant PACA-AU 10 50011652 50011652 single base substitution C T intron_variant PACA-AU 10 50014388 50014388 single base substitution T C intron_variant PACA-AU 10 50015422 50015422 single base substitution C T intron_variant PACA-AU 10 50016854 50016854 single base substitution C T intron_variant PACA-AU 10 50017560 50017560 single base substitution C A intron_variant PACA-AU 10 50018082 50018082 single base substitution G A intron_variant PACA-AU 10 50021386 50021386 single base substitution C T intron_variant PACA-AU 10 50023657 50023657 single base substitution C G intron_variant PACA-AU 10 50025166 50025166 single base substitution C G intron_variant PACA-AU 10 50025166 50025166 single base substitution C G upstream_gene_variant PACA-AU 10 50025376 50025376 single base substitution C G 3_prime_UTR_variant PACA-AU 10 50025376 50025376 single base substitution C G stop_gained Y1809* 5427C>G PACA-AU 10 50025376 50025376 single base substitution C G stop_gained Y355* 1065C>G PACA-AU 10 50025376 50025376 single base substitution C G upstream_gene_variant PACA-AU 10 50025380 50025380 single base substitution C A 3_prime_UTR_variant PACA-AU 10 50025380 50025380 single base substitution C A missense_variant Q1811K 5431C>A PACA-AU 10 50025380 50025380 single base substitution C A missense_variant Q357K 1069C>A PACA-AU 10 50025380 50025380 single base substitution C A upstream_gene_variant PACA-AU 10 50026594 50026594 single base substitution C A intron_variant PACA-AU 10 50026594 50026594 single base substitution C A upstream_gene_variant PACA-AU 10 50028406 50028406 single base substitution C T 3_prime_UTR_variant PACA-AU 10 50028406 50028406 single base substitution C T missense_variant T1878M 5633C>T PACA-AU 10 50028406 50028406 single base substitution C T missense_variant T424M 1271C>T PACA-AU 10 50028406 50028406 single base substitution C T upstream_gene_variant PACA-AU 10 50029042 50029042 single base substitution C T intron_variant PACA-AU 10 50029042 50029042 single base substitution C T upstream_gene_variant PACA-AU 10 50030393 50030394 deletion of <=200bp CT - intron_variant PACA-AU 10 50030527 50030527 single base substitution T A 3_prime_UTR_variant PACA-AU 10 50030527 50030527 single base substitution T A missense_variant M1976K 5927T>A PACA-AU 10 50030527 50030527 single base substitution T A missense_variant M522K 1565T>A PACA-AU 10 50030527 50030527 single base substitution T A missense_variant M62K 185T>A PACA-AU 10 50033660 50033660 single base substitution C T downstream_gene_variant PACA-AU 10 50033660 50033660 single base substitution C T intron_variant PACA-AU 10 50037082 50037082 single base substitution C A downstream_gene_variant PACA-AU 10 50037082 50037082 single base substitution C A intron_variant PACA-AU 10 50042073 50042073 single base substitution A C intron_variant PACA-AU 10 50043044 50043044 single base substitution C T intron_variant PACA-AU 10 50044276 50044276 single base substitution T C intron_variant PACA-AU 10 50045911 50045911 single base substitution C A intron_variant PACA-AU 10 50050518 50050518 single base substitution C T intron_variant PACA-AU 10 50052077 50052077 single base substitution G A intron_variant PACA-AU 10 50053057 50053057 single base substitution T C intron_variant PACA-AU 10 50054768 50054768 single base substitution A C intron_variant PACA-AU 10 50055246 50055246 single base substitution T C intron_variant PACA-AU 10 50058106 50058106 single base substitution T C intron_variant PACA-AU 10 50059660 50059660 single base substitution T C intron_variant PACA-AU 10 50060955 50060955 single base substitution C G intron_variant PACA-AU 10 50064515 50064515 deletion of <=200bp T - intron_variant PACA-AU 10 50064534 50064534 single base substitution A T intron_variant PACA-AU 10 50065446 50065446 single base substitution T C intron_variant PACA-AU 10 50068189 50068189 single base substitution T C intron_variant PACA-AU 10 50068461 50068461 single base substitution G T intron_variant PACA-AU 10 50074813 50074813 single base substitution A G intron_variant PACA-AU 10 50075217 50075217 insertion of <=200bp - AAAATAAAAT intron_variant PACA-AU 10 50075868 50075868 deletion of <=200bp A - intron_variant PACA-AU 10 50076506 50076506 single base substitution C T intron_variant PACA-AU 10 50078022 50078022 single base substitution C T intron_variant PACA-AU 10 50078023 50078023 single base substitution G A intron_variant PACA-AU 10 50079299 50079299 single base substitution A C intron_variant PACA-AU 10 50081680 50081680 single base substitution C T 3_prime_UTR_variant PACA-AU 10 50081680 50081680 single base substitution C T stop_gained R2296* 6886C>T PACA-AU 10 50081680 50081680 single base substitution C T stop_gained R382* 1144C>T PACA-AU 10 50084089 50084089 single base substitution G C intron_variant PACA-AU 10 50086421 50086421 single base substitution C T intron_variant PACA-AU 10 50087301 50087301 single base substitution C T intron_variant PACA-AU 10 50089848 50089848 single base substitution T C intron_variant PACA-AU 10 50090001 50090001 single base substitution A T intron_variant PACA-AU 10 50091675 50091675 single base substitution C T intron_variant PACA-AU 10 50096212 50096212 single base substitution A G intron_variant PACA-AU 10 50096825 50096825 single base substitution A C intron_variant PACA-AU 10 50097604 50097604 single base substitution A G intron_variant PACA-AU 10 50097667 50097667 single base substitution T G intron_variant PACA-AU 10 50102719 50102719 single base substitution G A intron_variant PACA-AU 10 50110468 50110468 single base substitution C T intron_variant PACA-AU 10 50111373 50111373 single base substitution G A intron_variant PACA-AU 10 50114568 50114568 single base substitution A T intron_variant PACA-AU 10 50116505 50116505 single base substitution G A intron_variant PACA-AU 10 50120255 50120255 single base substitution C T intron_variant PACA-AU 10 50121518 50121518 single base substitution G A intron_variant PACA-AU 10 50121720 50121720 single base substitution C T intron_variant PACA-AU 10 50122150 50122150 single base substitution C A intron_variant PACA-AU 10 50122166 50122166 single base substitution T G intron_variant PACA-AU 10 50128202 50128202 single base substitution G T intron_variant PACA-AU 10 50128848 50128848 single base substitution A T intron_variant PACA-AU 10 50129788 50129788 single base substitution A T intron_variant PACA-AU 10 50131542 50131542 insertion of <=200bp - TA intron_variant PACA-AU 10 50132346 50132346 single base substitution C T intron_variant PACA-AU 10 50135451 50135451 single base substitution C A intron_variant PACA-AU 10 50139500 50139500 single base substitution C T intron_variant PACA-AU 10 50140205 50140205 single base substitution T A intron_variant PACA-AU 10 50140347 50140347 single base substitution G C intron_variant PACA-AU 10 50144710 50144710 single base substitution G A intron_variant PACA-AU 10 50144876 50144876 single base substitution C A intron_variant PACA-AU 10 50144877 50144877 single base substitution C T intron_variant PACA-AU 10 50145879 50145879 single base substitution G A intron_variant PACA-AU 10 50147300 50147300 single base substitution A G intron_variant PACA-AU 10 50155454 50155454 single base substitution G A intron_variant PACA-AU 10 50155757 50155757 single base substitution C G intron_variant PACA-AU 10 50156682 50156682 single base substitution G A intron_variant PACA-AU 10 50157333 50157333 single base substitution C T intron_variant PACA-AU 10 50158475 50158475 single base substitution G A intron_variant PACA-AU 10 50160871 50160871 single base substitution G A intron_variant PACA-AU 10 50162008 50162008 single base substitution G T intron_variant PACA-AU 10 50164382 50164382 single base substitution G A intron_variant PACA-AU 10 50164940 50164940 single base substitution C T intron_variant PACA-AU 10 50165224 50165224 single base substitution G A 3_prime_UTR_variant PACA-AU 10 50165224 50165224 single base substitution G A exon_variant PACA-AU 10 50165224 50165224 single base substitution G A synonymous_variant T2676T 8028G>A PACA-AU 10 50165224 50165224 single base substitution G A synonymous_variant T762T 2286G>A PACA-AU 10 50168364 50168364 single base substitution A G intron_variant PACA-AU 10 50168416 50168416 single base substitution A T intron_variant PACA-AU 10 50174333 50174333 single base substitution G A intron_variant PACA-AU 10 50174333 50174333 single base substitution G A upstream_gene_variant PACA-AU 10 50174616 50174616 single base substitution C G 3_prime_UTR_variant PACA-AU 10 50174616 50174616 single base substitution C G exon_variant PACA-AU 10 50174616 50174616 single base substitution C G missense_variant L2828V 8482C>G PACA-AU 10 50174616 50174616 single base substitution C G missense_variant L914V 2740C>G PACA-AU 10 50174616 50174616 single base substitution C G upstream_gene_variant PACA-AU 10 50177818 50177818 single base substitution C T intron_variant PACA-AU 10 50178190 50178190 single base substitution C T 3_prime_UTR_variant PACA-AU 10 50178190 50178190 single base substitution C T exon_variant PACA-AU 10 50178190 50178190 single base substitution C T synonymous_variant F1014F 3042C>T PACA-AU 10 50178190 50178190 single base substitution C T synonymous_variant F2928F 8784C>T PACA-AU 10 50181646 50181646 single base substitution C T intron_variant PACA-AU 10 50181646 50181646 single base substitution C T upstream_gene_variant PACA-AU 10 50183357 50183357 single base substitution G T intron_variant PACA-AU 10 50183357 50183357 single base substitution G T upstream_gene_variant PACA-AU 10 50184531 50184531 single base substitution G T intron_variant PACA-AU 10 50184531 50184531 single base substitution G T upstream_gene_variant PACA-AU 10 50189607 50189607 single base substitution G A downstream_gene_variant PACA-AU 10 50189607 50189607 single base substitution G A intron_variant PACA-AU 10 50193413 50193413 single base substitution G A downstream_gene_variant PACA-AU 10 50195502 50195502 single base substitution C T downstream_gene_variant PACA-CA 10 49890465 49890465 single base substitution C A upstream_gene_variant PACA-CA 10 49892977 49892977 single base substitution A T 5_prime_UTR_variant PACA-CA 10 49894849 49894849 single base substitution A T intron_variant PACA-CA 10 49894964 49894964 single base substitution G A intron_variant PACA-CA 10 49895971 49895971 single base substitution C T intron_variant PACA-CA 10 49895975 49895975 single base substitution C T intron_variant PACA-CA 10 49896288 49896288 single base substitution A T intron_variant PACA-CA 10 49897279 49897279 single base substitution T C intron_variant PACA-CA 10 49899189 49899189 single base substitution G A intron_variant PACA-CA 10 49900143 49900143 single base substitution G T intron_variant PACA-CA 10 49902000 49902000 single base substitution A G intron_variant PACA-CA 10 49902453 49902453 deletion of <=200bp T - intron_variant PACA-CA 10 49902542 49902542 single base substitution C T intron_variant PACA-CA 10 49902649 49902649 single base substitution G T intron_variant PACA-CA 10 49903556 49903556 single base substitution T C intron_variant PACA-CA 10 49908112 49908112 single base substitution A T intron_variant PACA-CA 10 49908169 49908169 single base substitution C T intron_variant PACA-CA 10 49909678 49909678 single base substitution G T intron_variant PACA-CA 10 49911144 49911144 single base substitution A T intron_variant PACA-CA 10 49912927 49912927 single base substitution A G intron_variant PACA-CA 10 49912927 49912927 single base substitution A G upstream_gene_variant PACA-CA 10 49913587 49913587 single base substitution C T intron_variant PACA-CA 10 49913587 49913587 single base substitution C T upstream_gene_variant PACA-CA 10 49915391 49915391 single base substitution A T intron_variant PACA-CA 10 49915391 49915391 single base substitution A T upstream_gene_variant PACA-CA 10 49915584 49915584 single base substitution C A intron_variant PACA-CA 10 49915584 49915584 single base substitution C A upstream_gene_variant PACA-CA 10 49915961 49915961 single base substitution C A intron_variant PACA-CA 10 49915961 49915961 single base substitution C A upstream_gene_variant PACA-CA 10 49916795 49916795 single base substitution G A intron_variant PACA-CA 10 49916795 49916795 single base substitution G A upstream_gene_variant PACA-CA 10 49917775 49917775 single base substitution G A 5_prime_UTR_variant PACA-CA 10 49918091 49918091 single base substitution G A intron_variant PACA-CA 10 49918349 49918349 single base substitution C G intron_variant PACA-CA 10 49919439 49919439 single base substitution C T intron_variant PACA-CA 10 49920607 49920607 single base substitution C T intron_variant PACA-CA 10 49923985 49923985 single base substitution C T intron_variant PACA-CA 10 49924195 49924195 single base substitution G A intron_variant PACA-CA 10 49926934 49926934 single base substitution C G intron_variant PACA-CA 10 49927990 49927990 single base substitution G A intron_variant PACA-CA 10 49930503 49930503 single base substitution C A intron_variant PACA-CA 10 49930613 49930613 single base substitution C T intron_variant PACA-CA 10 49931202 49931202 single base substitution C A intron_variant PACA-CA 10 49933350 49933350 single base substitution G A intron_variant PACA-CA 10 49936875 49936875 single base substitution G A intron_variant PACA-CA 10 49937329 49937329 single base substitution C A intron_variant PACA-CA 10 49937646 49937646 single base substitution C T intron_variant PACA-CA 10 49937679 49937679 single base substitution G A intron_variant PACA-CA 10 49937991 49937991 single base substitution C A intron_variant PACA-CA 10 49939676 49939676 single base substitution C A intron_variant PACA-CA 10 49940054 49940054 single base substitution C T intron_variant PACA-CA 10 49940693 49940693 single base substitution C T intron_variant PACA-CA 10 49941327 49941327 single base substitution G C intron_variant PACA-CA 10 49941417 49941417 single base substitution A T intron_variant PACA-CA 10 49942782 49942782 single base substitution A G intron_variant PACA-CA 10 49943115 49943115 single base substitution C T intron_variant PACA-CA 10 49943681 49943681 single base substitution A G intron_variant PACA-CA 10 49945593 49945593 single base substitution A C downstream_gene_variant PACA-CA 10 49945593 49945593 single base substitution A C intron_variant PACA-CA 10 49945706 49945706 single base substitution A C downstream_gene_variant PACA-CA 10 49945706 49945706 single base substitution A C intron_variant PACA-CA 10 49947056 49947056 single base substitution T C downstream_gene_variant PACA-CA 10 49947056 49947056 single base substitution T C intron_variant PACA-CA 10 49951730 49951730 single base substitution C G intron_variant PACA-CA 10 49951805 49951805 single base substitution G T intron_variant PACA-CA 10 49952153 49952153 single base substitution C A intron_variant PACA-CA 10 49952455 49952455 single base substitution T G intron_variant PACA-CA 10 49955322 49955322 single base substitution G A intron_variant PACA-CA 10 49955473 49955473 single base substitution C A intron_variant PACA-CA 10 49956974 49956974 single base substitution G A intron_variant PACA-CA 10 49958329 49958329 single base substitution G A intron_variant PACA-CA 10 49963463 49963463 single base substitution T G intron_variant PACA-CA 10 49964637 49964637 single base substitution C T intron_variant PACA-CA 10 49966319 49966319 single base substitution C A intron_variant PACA-CA 10 49967826 49967826 single base substitution C T intron_variant PACA-CA 10 49967839 49967839 single base substitution G T intron_variant PACA-CA 10 49968861 49968861 single base substitution C T intron_variant PACA-CA 10 49969383 49969383 single base substitution G A intron_variant PACA-CA 10 49970082 49970082 single base substitution A C intron_variant PACA-CA 10 49971744 49971744 single base substitution C T intron_variant PACA-CA 10 49972817 49972817 insertion of <=200bp - G intron_variant PACA-CA 10 49977821 49977821 single base substitution G C intron_variant PACA-CA 10 49978010 49978010 single base substitution G T intron_variant PACA-CA 10 49981534 49981541 deletion of <=200bp AATGAAAG - intron_variant PACA-CA 10 49982395 49982395 single base substitution G A intron_variant PACA-CA 10 49984493 49984493 single base substitution T C intron_variant PACA-CA 10 49984740 49984740 single base substitution C T intron_variant PACA-CA 10 49984841 49984841 single base substitution C A synonymous_variant A970A 2910C>A PACA-CA 10 49985362 49985362 single base substitution G A intron_variant PACA-CA 10 49988664 49988664 single base substitution C A intron_variant PACA-CA 10 49989311 49989311 single base substitution G A intron_variant PACA-CA 10 49992699 49992699 single base substitution G A intron_variant PACA-CA 10 49993362 49993362 single base substitution C G intron_variant PACA-CA 10 49994405 49994405 single base substitution T A intron_variant PACA-CA 10 49995441 49995441 single base substitution A G intron_variant PACA-CA 10 49995472 49995472 single base substitution G C intron_variant PACA-CA 10 49995927 49995927 insertion of <=200bp - T intron_variant PACA-CA 10 49999842 49999842 single base substitution C T intron_variant PACA-CA 10 50000230 50000230 single base substitution C T intron_variant PACA-CA 10 50003272 50003272 single base substitution T A intron_variant PACA-CA 10 50007687 50007687 single base substitution G A intron_variant PACA-CA 10 50007687 50007687 single base substitution G A upstream_gene_variant PACA-CA 10 50009598 50009598 single base substitution T A intron_variant PACA-CA 10 50009598 50009598 single base substitution T A upstream_gene_variant PACA-CA 10 50012700 50012700 single base substitution C A intron_variant PACA-CA 10 50013166 50013166 single base substitution T C intron_variant PACA-CA 10 50017692 50017692 single base substitution A T intron_variant PACA-CA 10 50018984 50018984 single base substitution A T intron_variant PACA-CA 10 50020064 50020064 single base substitution G T intron_variant PACA-CA 10 50020988 50020988 single base substitution C T intron_variant PACA-CA 10 50022512 50022512 single base substitution G A intron_variant PACA-CA 10 50022695 50022695 deletion of <=200bp A - intron_variant PACA-CA 10 50023250 50023250 single base substitution C T intron_variant PACA-CA 10 50023692 50023692 single base substitution C A intron_variant PACA-CA 10 50024007 50024007 single base substitution T G intron_variant PACA-CA 10 50024870 50024870 single base substitution T A intron_variant PACA-CA 10 50024870 50024870 single base substitution T A upstream_gene_variant PACA-CA 10 50026329 50026329 single base substitution A T intron_variant PACA-CA 10 50026329 50026329 single base substitution A T upstream_gene_variant PACA-CA 10 50028197 50028197 single base substitution C T intron_variant PACA-CA 10 50028197 50028197 single base substitution C T upstream_gene_variant PACA-CA 10 50029091 50029091 single base substitution C T intron_variant PACA-CA 10 50029091 50029091 single base substitution C T upstream_gene_variant PACA-CA 10 50029706 50029706 single base substitution A T intron_variant PACA-CA 10 50029964 50029964 single base substitution C A intron_variant PACA-CA 10 50030250 50030250 single base substitution C A intron_variant PACA-CA 10 50030501 50030501 single base substitution G C 3_prime_UTR_variant PACA-CA 10 50030501 50030501 single base substitution G C missense_variant K1967N 5901G>C PACA-CA 10 50030501 50030501 single base substitution G C missense_variant K513N 1539G>C PACA-CA 10 50030501 50030501 single base substitution G C missense_variant K53N 159G>C PACA-CA 10 50032046 50032046 single base substitution G A 3_prime_UTR_variant PACA-CA 10 50032046 50032046 single base substitution G A intron_variant PACA-CA 10 50035520 50035520 single base substitution T C downstream_gene_variant PACA-CA 10 50035520 50035520 single base substitution T C intron_variant PACA-CA 10 50038486 50038486 single base substitution C A intron_variant PACA-CA 10 50040017 50040017 single base substitution G A intron_variant PACA-CA 10 50041177 50041177 single base substitution G T intron_variant PACA-CA 10 50041217 50041217 single base substitution T A intron_variant PACA-CA 10 50041219 50041219 single base substitution A T intron_variant PACA-CA 10 50041370 50041370 single base substitution G C intron_variant PACA-CA 10 50042054 50042054 single base substitution G T intron_variant PACA-CA 10 50043141 50043141 single base substitution A G intron_variant PACA-CA 10 50045813 50045813 single base substitution G A intron_variant PACA-CA 10 50048542 50048542 single base substitution A T intron_variant PACA-CA 10 50051337 50051337 single base substitution G A intron_variant PACA-CA 10 50052583 50052583 single base substitution G T intron_variant PACA-CA 10 50054269 50054269 single base substitution G T intron_variant PACA-CA 10 50054321 50054321 single base substitution C T intron_variant PACA-CA 10 50054997 50054997 single base substitution C G intron_variant PACA-CA 10 50058527 50058527 single base substitution G A intron_variant PACA-CA 10 50060291 50060291 single base substitution C T intron_variant PACA-CA 10 50061193 50061193 single base substitution G C intron_variant PACA-CA 10 50062568 50062568 single base substitution C T intron_variant PACA-CA 10 50063244 50063244 single base substitution A G intron_variant PACA-CA 10 50064872 50064872 single base substitution T C intron_variant PACA-CA 10 50065590 50065590 single base substitution G A intron_variant PACA-CA 10 50065760 50065760 single base substitution C A intron_variant PACA-CA 10 50066476 50066476 deletion of <=200bp A - intron_variant PACA-CA 10 50067673 50067673 single base substitution G A intron_variant PACA-CA 10 50067964 50067964 single base substitution A T intron_variant PACA-CA 10 50068086 50068086 single base substitution C T intron_variant PACA-CA 10 50068820 50068820 insertion of <=200bp - T intron_variant PACA-CA 10 50069032 50069032 single base substitution G T intron_variant PACA-CA 10 50077413 50077413 single base substitution G A intron_variant PACA-CA 10 50078295 50078295 single base substitution T C intron_variant PACA-CA 10 50081232 50081232 single base substitution T A intron_variant PACA-CA 10 50084225 50084225 single base substitution C A intron_variant PACA-CA 10 50085163 50085163 single base substitution C T 3_prime_UTR_variant PACA-CA 10 50085163 50085163 single base substitution C T synonymous_variant H2362H 7086C>T PACA-CA 10 50085163 50085163 single base substitution C T synonymous_variant H448H 1344C>T PACA-CA 10 50088898 50088898 single base substitution C T intron_variant PACA-CA 10 50089911 50089911 single base substitution G A intron_variant PACA-CA 10 50090167 50090167 single base substitution C A intron_variant PACA-CA 10 50090640 50090640 single base substitution A G intron_variant PACA-CA 10 50091771 50091771 single base substitution C G intron_variant PACA-CA 10 50092006 50092006 single base substitution T A intron_variant PACA-CA 10 50093777 50093777 single base substitution C A intron_variant PACA-CA 10 50094147 50094147 single base substitution G A intron_variant PACA-CA 10 50095113 50095113 single base substitution A G intron_variant PACA-CA 10 50096052 50096052 single base substitution T C intron_variant PACA-CA 10 50097426 50097426 single base substitution C G intron_variant PACA-CA 10 50099159 50099159 single base substitution G A intron_variant PACA-CA 10 50099380 50099380 single base substitution A T intron_variant PACA-CA 10 50102152 50102152 single base substitution C A intron_variant PACA-CA 10 50103448 50103448 single base substitution G A intron_variant PACA-CA 10 50103868 50103868 single base substitution C A intron_variant PACA-CA 10 50104302 50104302 single base substitution G A intron_variant PACA-CA 10 50104808 50104808 single base substitution T A intron_variant PACA-CA 10 50104962 50104962 single base substitution G T intron_variant PACA-CA 10 50106054 50106054 single base substitution C A intron_variant PACA-CA 10 50110015 50110015 single base substitution A T intron_variant PACA-CA 10 50111274 50111274 single base substitution G A intron_variant PACA-CA 10 50112201 50112201 single base substitution T C intron_variant PACA-CA 10 50115420 50115420 single base substitution T A intron_variant PACA-CA 10 50117389 50117389 single base substitution T C intron_variant PACA-CA 10 50119603 50119612 deletion of <=200bp AAGAATAACT - intron_variant PACA-CA 10 50122166 50122166 single base substitution T G intron_variant PACA-CA 10 50122272 50122272 single base substitution G T intron_variant PACA-CA 10 50122346 50122346 single base substitution G A intron_variant PACA-CA 10 50122597 50122597 single base substitution T A intron_variant PACA-CA 10 50124167 50124167 single base substitution G C intron_variant PACA-CA 10 50129710 50129710 single base substitution T C intron_variant PACA-CA 10 50130107 50130107 single base substitution A T intron_variant PACA-CA 10 50130730 50130730 single base substitution C T intron_variant PACA-CA 10 50134542 50134542 single base substitution T A intron_variant PACA-CA 10 50136990 50136990 single base substitution C A intron_variant PACA-CA 10 50138178 50138178 single base substitution C T intron_variant PACA-CA 10 50138934 50138934 single base substitution C T intron_variant PACA-CA 10 50139786 50139786 single base substitution T C intron_variant PACA-CA 10 50143351 50143351 single base substitution G T intron_variant PACA-CA 10 50143628 50143628 insertion of <=200bp - T intron_variant PACA-CA 10 50144838 50144838 single base substitution G A intron_variant PACA-CA 10 50144839 50144839 single base substitution C T intron_variant PACA-CA 10 50144897 50144897 single base substitution G A intron_variant PACA-CA 10 50145814 50145814 deletion of <=200bp G - intron_variant PACA-CA 10 50146566 50146566 single base substitution C T intron_variant PACA-CA 10 50146756 50146756 single base substitution C T intron_variant PACA-CA 10 50151804 50151804 insertion of <=200bp - T intron_variant PACA-CA 10 50151804 50151804 insertion of <=200bp - T upstream_gene_variant PACA-CA 10 50153186 50153186 single base substitution C T intron_variant PACA-CA 10 50153186 50153186 single base substitution C T upstream_gene_variant PACA-CA 10 50157342 50157342 single base substitution G T intron_variant PACA-CA 10 50161382 50161382 single base substitution A T intron_variant PACA-CA 10 50163798 50163798 single base substitution C A intron_variant PACA-CA 10 50164263 50164263 single base substitution C G intron_variant PACA-CA 10 50164920 50164920 single base substitution G A intron_variant PACA-CA 10 50167885 50167885 single base substitution C T intron_variant PACA-CA 10 50168234 50168234 single base substitution A T intron_variant PACA-CA 10 50168235 50168235 single base substitution A C intron_variant PACA-CA 10 50170244 50170244 single base substitution T G intron_variant PACA-CA 10 50173269 50173269 single base substitution C T intron_variant PACA-CA 10 50173269 50173269 single base substitution C T upstream_gene_variant PACA-CA 10 50173438 50173438 single base substitution G A intron_variant PACA-CA 10 50173438 50173438 single base substitution G A upstream_gene_variant PACA-CA 10 50174164 50174164 single base substitution G C intron_variant PACA-CA 10 50174164 50174164 single base substitution G C upstream_gene_variant PACA-CA 10 50174291 50174291 single base substitution G T intron_variant PACA-CA 10 50174291 50174291 single base substitution G T upstream_gene_variant PACA-CA 10 50177825 50177825 single base substitution C A intron_variant PACA-CA 10 50178309 50178309 single base substitution G A 3_prime_UTR_variant PACA-CA 10 50178309 50178309 single base substitution G A exon_variant PACA-CA 10 50178309 50178309 single base substitution G A missense_variant R1054H 3161G>A PACA-CA 10 50178309 50178309 single base substitution G A missense_variant R2968H 8903G>A PACA-CA 10 50179275 50179275 single base substitution C A intron_variant PACA-CA 10 50183156 50183156 single base substitution A G intron_variant PACA-CA 10 50183156 50183156 single base substitution A G upstream_gene_variant PACA-CA 10 50183570 50183570 single base substitution C T intron_variant PACA-CA 10 50183570 50183570 single base substitution C T upstream_gene_variant PACA-CA 10 50183771 50183771 single base substitution A G intron_variant PACA-CA 10 50183771 50183771 single base substitution A G upstream_gene_variant PACA-CA 10 50184944 50184944 single base substitution A T 3_prime_UTR_variant PACA-CA 10 50184944 50184944 single base substitution A T exon_variant PACA-CA 10 50184944 50184944 single base substitution A T missense_variant T1157S 3469A>T PACA-CA 10 50184944 50184944 single base substitution A T missense_variant T3071S 9211A>T PACA-CA 10 50184944 50184944 single base substitution A T upstream_gene_variant PACA-CA 10 50187609 50187609 single base substitution T A downstream_gene_variant PACA-CA 10 50187609 50187609 single base substitution T A intron_variant PACA-CA 10 50187613 50187613 single base substitution A T downstream_gene_variant PACA-CA 10 50187613 50187613 single base substitution A T intron_variant PACA-CA 10 50190880 50190880 single base substitution C A 3_prime_UTR_variant PACA-CA 10 50190880 50190880 single base substitution C A exon_variant PACA-CA 10 50191899 50191899 single base substitution G C downstream_gene_variant PACA-CA 10 50192676 50192676 single base substitution C G downstream_gene_variant PACA-CA 10 50193421 50193421 single base substitution G T downstream_gene_variant PAEN-AU 10 49900916 49900916 single base substitution T C intron_variant PAEN-AU 10 49903339 49903339 single base substitution C T intron_variant PAEN-AU 10 49976922 49976922 single base substitution C A intron_variant PAEN-AU 10 49995401 49995401 single base substitution G A intron_variant PAEN-AU 10 50001591 50001591 single base substitution C T intron_variant PAEN-AU 10 50011843 50011843 single base substitution G T intron_variant PAEN-AU 10 50015203 50015203 single base substitution G C intron_variant PAEN-AU 10 50060374 50060374 single base substitution G A intron_variant PAEN-AU 10 50075217 50075217 insertion of <=200bp - AAAATAAAAT intron_variant PAEN-AU 10 50113145 50113145 single base substitution T C intron_variant PAEN-AU 10 50117399 50117399 single base substitution G C intron_variant PAEN-AU 10 50173536 50173536 single base substitution G A intron_variant PAEN-AU 10 50173536 50173536 single base substitution G A upstream_gene_variant PAEN-AU 10 50173769 50173769 single base substitution G T intron_variant PAEN-AU 10 50173769 50173769 single base substitution G T upstream_gene_variant PAEN-AU 10 50176001 50176001 single base substitution A G exon_variant PAEN-AU 10 50176001 50176001 single base substitution A G intron_variant PAEN-AU 10 50176001 50176001 single base substitution A G upstream_gene_variant PAEN-IT 10 50060907 50060907 single base substitution C A intron_variant PAEN-IT 10 50080120 50080120 single base substitution A G intron_variant PAEN-IT 10 50098047 50098047 single base substitution C G intron_variant PAEN-IT 10 50127908 50127908 single base substitution C T intron_variant PAEN-IT 10 50181455 50181455 single base substitution C T intron_variant PAEN-IT 10 50181455 50181455 single base substitution C T upstream_gene_variant PAEN-IT 10 50187641 50187641 single base substitution T C downstream_gene_variant PAEN-IT 10 50187641 50187641 single base substitution T C intron_variant PAEN-IT 10 50187644 50187644 single base substitution A G downstream_gene_variant PAEN-IT 10 50187644 50187644 single base substitution A G intron_variant PBCA-DE 10 49892781 49892781 single base substitution T A upstream_gene_variant PBCA-DE 10 49892897 49892897 single base substitution G C upstream_gene_variant PBCA-DE 10 49893367 49893367 single base substitution G A intron_variant PBCA-DE 10 49897422 49897422 single base substitution G A intron_variant PBCA-DE 10 49908392 49908392 single base substitution A G intron_variant PBCA-DE 10 49908406 49908406 deletion of <=200bp T - intron_variant PBCA-DE 10 49917023 49917023 single base substitution A C intron_variant PBCA-DE 10 49917023 49917023 single base substitution A C upstream_gene_variant PBCA-DE 10 49918034 49918034 single base substitution C T intron_variant PBCA-DE 10 49937243 49937243 single base substitution G A intron_variant PBCA-DE 10 49941241 49941241 insertion of <=200bp - T intron_variant PBCA-DE 10 49942569 49942570 deletion of <=200bp AT - intron_variant PBCA-DE 10 49943198 49943198 single base substitution T C intron_variant PBCA-DE 10 49965812 49965812 insertion of <=200bp - T intron_variant PBCA-DE 10 49967082 49967083 deletion of <=200bp AT - intron_variant PBCA-DE 10 49967215 49967215 single base substitution C T intron_variant PBCA-DE 10 49975740 49975740 single base substitution A T intron_variant PBCA-DE 10 49977114 49977114 single base substitution G A intron_variant PBCA-DE 10 49989312 49989312 insertion of <=200bp - TA intron_variant PBCA-DE 10 49995998 49995998 single base substitution T C intron_variant PBCA-DE 10 50004687 50004687 single base substitution C T intron_variant PBCA-DE 10 50023505 50023505 insertion of <=200bp - T intron_variant PBCA-DE 10 50026902 50026902 single base substitution G A intron_variant PBCA-DE 10 50026902 50026902 single base substitution G A upstream_gene_variant PBCA-DE 10 50027341 50027341 single base substitution A C intron_variant PBCA-DE 10 50027341 50027341 single base substitution A C upstream_gene_variant PBCA-DE 10 50027356 50027356 single base substitution T G intron_variant PBCA-DE 10 50027356 50027356 single base substitution T G upstream_gene_variant PBCA-DE 10 50030483 50030483 single base substitution C A 3_prime_UTR_variant PBCA-DE 10 50030483 50030483 single base substitution C A synonymous_variant I1961I 5883C>A PBCA-DE 10 50030483 50030483 single base substitution C A synonymous_variant I47I 141C>A PBCA-DE 10 50030483 50030483 single base substitution C A synonymous_variant I507I 1521C>A PBCA-DE 10 50031273 50031273 single base substitution G A 3_prime_UTR_variant PBCA-DE 10 50031273 50031273 single base substitution G A intron_variant PBCA-DE 10 50037207 50037207 single base substitution G A downstream_gene_variant PBCA-DE 10 50037207 50037207 single base substitution G A intron_variant PBCA-DE 10 50039253 50039253 single base substitution G T intron_variant PBCA-DE 10 50042350 50042350 single base substitution A T intron_variant PBCA-DE 10 50052407 50052407 single base substitution C T intron_variant PBCA-DE 10 50056448 50056448 single base substitution G A intron_variant PBCA-DE 10 50065222 50065222 single base substitution C A intron_variant PBCA-DE 10 50090449 50090449 deletion of <=200bp T - intron_variant PBCA-DE 10 50091435 50091436 deletion of <=200bp GT - intron_variant PBCA-DE 10 50094786 50094786 single base substitution C A intron_variant PBCA-DE 10 50100497 50100497 single base substitution G A intron_variant PBCA-DE 10 50109730 50109730 single base substitution G A intron_variant PBCA-DE 10 50110668 50110668 insertion of <=200bp - A intron_variant PBCA-DE 10 50121796 50121796 single base substitution G A intron_variant PBCA-DE 10 50130397 50130397 single base substitution T C intron_variant PBCA-DE 10 50139833 50139833 single base substitution C T intron_variant PBCA-DE 10 50142405 50142405 single base substitution C T intron_variant PBCA-DE 10 50143432 50143432 single base substitution C T intron_variant PBCA-DE 10 50147357 50147357 single base substitution G A intron_variant PBCA-DE 10 50152431 50152431 single base substitution T C intron_variant PBCA-DE 10 50152431 50152431 single base substitution T C upstream_gene_variant PBCA-DE 10 50162765 50162765 single base substitution G A intron_variant PBCA-DE 10 50163208 50163208 single base substitution G A intron_variant PBCA-DE 10 50173146 50173146 single base substitution C A intron_variant PBCA-DE 10 50173146 50173146 single base substitution C A upstream_gene_variant PBCA-DE 10 50173819 50173819 single base substitution A G intron_variant PBCA-DE 10 50173819 50173819 single base substitution A G upstream_gene_variant PBCA-DE 10 50179402 50179402 single base substitution G A intron_variant PBCA-DE 10 50180543 50180543 single base substitution A T intron_variant PBCA-DE 10 50180840 50180840 single base substitution C T intron_variant PBCA-DE 10 50185471 50185471 insertion of <=200bp - CATC downstream_gene_variant PBCA-DE 10 50185471 50185471 insertion of <=200bp - CATC intron_variant PBCA-DE 10 50185471 50185471 insertion of <=200bp - CATC upstream_gene_variant PBCA-DE 10 50190751 50190751 single base substitution T A 3_prime_UTR_variant PBCA-DE 10 50190751 50190751 single base substitution T A exon_variant PBCA-DE 10 50194946 50194946 single base substitution C T downstream_gene_variant PRAD-CA 10 49903324 49903324 single base substitution G A intron_variant PRAD-CA 10 49923838 49923838 single base substitution T C intron_variant PRAD-CA 10 49935901 49935901 single base substitution G T intron_variant PRAD-CA 10 49952566 49952566 single base substitution T C intron_variant PRAD-CA 10 49956026 49956026 single base substitution A T intron_variant PRAD-CA 10 49960100 49960100 single base substitution G A intron_variant PRAD-CA 10 49973904 49973904 single base substitution A G intron_variant PRAD-CA 10 49992988 49992988 single base substitution C T intron_variant PRAD-CA 10 49994063 49994063 single base substitution G A intron_variant PRAD-CA 10 49995849 49995849 single base substitution C T intron_variant PRAD-CA 10 49995852 49995852 single base substitution C T intron_variant PRAD-CA 10 49995858 49995858 single base substitution T C intron_variant PRAD-CA 10 49998278 49998278 single base substitution C T intron_variant PRAD-CA 10 50000908 50000908 single base substitution T C intron_variant PRAD-CA 10 50001652 50001652 single base substitution G A intron_variant PRAD-CA 10 50007979 50007979 single base substitution G A intron_variant PRAD-CA 10 50007979 50007979 single base substitution G A upstream_gene_variant PRAD-CA 10 50008764 50008764 single base substitution T A intron_variant PRAD-CA 10 50008764 50008764 single base substitution T A upstream_gene_variant PRAD-CA 10 50017425 50017425 single base substitution A T intron_variant PRAD-CA 10 50021859 50021859 single base substitution C T intron_variant PRAD-CA 10 50025446 50025446 single base substitution G T 3_prime_UTR_variant PRAD-CA 10 50025446 50025446 single base substitution G T missense_variant A1833S 5497G>T PRAD-CA 10 50025446 50025446 single base substitution G T missense_variant A379S 1135G>T PRAD-CA 10 50025446 50025446 single base substitution G T upstream_gene_variant PRAD-CA 10 50037870 50037870 single base substitution C A intron_variant PRAD-CA 10 50038341 50038341 single base substitution A C intron_variant PRAD-CA 10 50054955 50054955 single base substitution C T intron_variant PRAD-CA 10 50066796 50066796 single base substitution T C intron_variant PRAD-CA 10 50073933 50073933 single base substitution T A intron_variant PRAD-CA 10 50076116 50076116 single base substitution T C intron_variant PRAD-CA 10 50079107 50079107 single base substitution T C intron_variant PRAD-CA 10 50092992 50092992 single base substitution T A intron_variant PRAD-CA 10 50094862 50094862 single base substitution T G intron_variant PRAD-CA 10 50099291 50099291 single base substitution A G intron_variant PRAD-CA 10 50113275 50113275 single base substitution C A intron_variant PRAD-CA 10 50120321 50120321 single base substitution C G intron_variant PRAD-CA 10 50127872 50127872 single base substitution C T intron_variant PRAD-CA 10 50141468 50141468 single base substitution G T intron_variant PRAD-CA 10 50142449 50142449 single base substitution G A intron_variant PRAD-CA 10 50149860 50149860 single base substitution C T 3_prime_UTR_variant PRAD-CA 10 50149860 50149860 single base substitution C T synonymous_variant P2532P 7596C>T PRAD-CA 10 50149860 50149860 single base substitution C T synonymous_variant P618P 1854C>T PRAD-CA 10 50149860 50149860 single base substitution C T upstream_gene_variant PRAD-CA 10 50157801 50157801 single base substitution G A intron_variant PRAD-CA 10 50173819 50173819 single base substitution A G intron_variant PRAD-CA 10 50173819 50173819 single base substitution A G upstream_gene_variant PRAD-CA 10 50175228 50175228 single base substitution G A exon_variant PRAD-CA 10 50175228 50175228 single base substitution G A intron_variant PRAD-CA 10 50175228 50175228 single base substitution G A upstream_gene_variant PRAD-UK 10 49889430 49889430 single base substitution G T upstream_gene_variant PRAD-UK 10 49891545 49891545 single base substitution G A upstream_gene_variant PRAD-UK 10 49897549 49897549 single base substitution G T intron_variant PRAD-UK 10 49906177 49906177 insertion of <=200bp - T intron_variant PRAD-UK 10 49906183 49906183 insertion of <=200bp - T intron_variant PRAD-UK 10 49920770 49920770 single base substitution G A intron_variant PRAD-UK 10 49925113 49925113 single base substitution C T intron_variant PRAD-UK 10 49926747 49926747 single base substitution T C intron_variant PRAD-UK 10 49939537 49939537 single base substitution C A missense_variant F504L 1512C>A PRAD-UK 10 49940880 49940880 single base substitution G A intron_variant PRAD-UK 10 49943536 49943536 insertion of <=200bp - T intron_variant PRAD-UK 10 49945345 49945345 single base substitution G A downstream_gene_variant PRAD-UK 10 49945345 49945345 single base substitution G A intron_variant PRAD-UK 10 49953816 49953816 single base substitution C T intron_variant PRAD-UK 10 49955406 49955406 single base substitution C A intron_variant PRAD-UK 10 49959099 49959099 single base substitution G T intron_variant PRAD-UK 10 49963034 49963034 single base substitution T A intron_variant PRAD-UK 10 49963768 49963768 single base substitution C A intron_variant PRAD-UK 10 49965187 49965187 single base substitution C T intron_variant PRAD-UK 10 49977568 49977568 single base substitution C T intron_variant PRAD-UK 10 49983707 49983707 single base substitution C A intron_variant PRAD-UK 10 49985931 49985931 single base substitution C A intron_variant PRAD-UK 10 49993583 49993583 single base substitution C G intron_variant PRAD-UK 10 49994097 49994097 single base substitution T C intron_variant PRAD-UK 10 50004966 50004966 single base substitution G A intron_variant PRAD-UK 10 50016441 50016441 deletion of <=200bp A - intron_variant PRAD-UK 10 50018474 50018474 single base substitution G T intron_variant PRAD-UK 10 50020663 50020663 single base substitution C T intron_variant PRAD-UK 10 50022511 50022511 single base substitution C T intron_variant PRAD-UK 10 50025770 50025770 single base substitution C T intron_variant PRAD-UK 10 50025770 50025770 single base substitution C T upstream_gene_variant PRAD-UK 10 50026567 50026567 single base substitution C A intron_variant PRAD-UK 10 50026567 50026567 single base substitution C A upstream_gene_variant PRAD-UK 10 50026983 50026983 single base substitution G A intron_variant PRAD-UK 10 50026983 50026983 single base substitution G A upstream_gene_variant PRAD-UK 10 50027168 50027168 single base substitution C T intron_variant PRAD-UK 10 50027168 50027168 single base substitution C T upstream_gene_variant PRAD-UK 10 50031055 50031055 single base substitution C T intron_variant PRAD-UK 10 50031060 50031060 single base substitution G A intron_variant PRAD-UK 10 50032684 50032684 single base substitution C A downstream_gene_variant PRAD-UK 10 50032684 50032684 single base substitution C A intron_variant PRAD-UK 10 50056372 50056372 single base substitution C T intron_variant PRAD-UK 10 50064353 50064353 single base substitution G A intron_variant PRAD-UK 10 50068238 50068238 single base substitution C A intron_variant PRAD-UK 10 50068805 50068805 deletion of <=200bp T - intron_variant PRAD-UK 10 50070413 50070413 single base substitution G T intron_variant PRAD-UK 10 50072058 50072058 single base substitution G T intron_variant PRAD-UK 10 50082164 50082164 single base substitution C T intron_variant PRAD-UK 10 50087329 50087329 single base substitution A G intron_variant PRAD-UK 10 50097528 50097528 single base substitution T A intron_variant PRAD-UK 10 50100316 50100316 single base substitution T G intron_variant PRAD-UK 10 50101358 50101358 single base substitution T A intron_variant PRAD-UK 10 50103644 50103644 single base substitution C A intron_variant PRAD-UK 10 50113323 50113323 single base substitution G A intron_variant PRAD-UK 10 50120677 50120677 single base substitution A T intron_variant PRAD-UK 10 50122745 50122745 single base substitution G C intron_variant PRAD-UK 10 50129023 50129023 single base substitution A G intron_variant PRAD-UK 10 50129081 50129081 single base substitution G A intron_variant PRAD-UK 10 50135565 50135565 single base substitution T A intron_variant PRAD-UK 10 50138669 50138669 single base substitution C T intron_variant PRAD-UK 10 50139421 50139421 single base substitution G A intron_variant PRAD-UK 10 50140977 50140977 single base substitution C T intron_variant PRAD-UK 10 50141653 50141653 single base substitution C T intron_variant PRAD-UK 10 50143637 50143637 insertion of <=200bp - T intron_variant PRAD-UK 10 50147106 50147106 single base substitution C A intron_variant PRAD-UK 10 50150566 50150566 single base substitution C G intron_variant PRAD-UK 10 50150566 50150566 single base substitution C G upstream_gene_variant PRAD-UK 10 50151387 50151387 single base substitution A T 3_prime_UTR_variant PRAD-UK 10 50151387 50151387 single base substitution A T missense_variant S2548C 7642A>T PRAD-UK 10 50151387 50151387 single base substitution A T missense_variant S634C 1900A>T PRAD-UK 10 50151387 50151387 single base substitution A T upstream_gene_variant PRAD-UK 10 50161567 50161567 single base substitution T C intron_variant PRAD-UK 10 50166900 50166900 single base substitution C T intron_variant PRAD-UK 10 50178213 50178213 single base substitution G A 3_prime_UTR_variant PRAD-UK 10 50178213 50178213 single base substitution G A exon_variant PRAD-UK 10 50178213 50178213 single base substitution G A missense_variant R1022H 3065G>A PRAD-UK 10 50178213 50178213 single base substitution G A missense_variant R2936H 8807G>A PRAD-UK 10 50181487 50181487 single base substitution C G intron_variant PRAD-UK 10 50181487 50181487 single base substitution C G upstream_gene_variant PRAD-UK 10 50191662 50191662 single base substitution G T downstream_gene_variant PRAD-UK 10 50192891 50192891 single base substitution G A downstream_gene_variant READ-US 10 49939318 49939318 single base substitution G A synonymous_variant S431S 1293G>A READ-US 10 49939427 49939427 single base substitution C T stop_gained R468* 1402C>T READ-US 10 49968426 49968426 single base substitution G A missense_variant G832R 2494G>A READ-US 10 49968462 49968462 single base substitution T C synonymous_variant L844L 2530T>C READ-US 10 50004350 50004350 single base substitution C T intron_variant READ-US 10 50004350 50004350 single base substitution C T missense_variant A1422V 4265C>T READ-US 10 50004492 50004492 single base substitution C T intron_variant READ-US 10 50004492 50004492 single base substitution C T synonymous_variant F1469F 4407C>T READ-US 10 50015976 50015976 single base substitution C A missense_variant S150Y 449C>A READ-US 10 50015976 50015976 single base substitution C A missense_variant S1604Y 4811C>A READ-US 10 50015976 50015976 single base substitution C A synonymous_variant I1034I 3102C>A READ-US 10 50025369 50025369 single base substitution G A 3_prime_UTR_variant READ-US 10 50025369 50025369 single base substitution G A missense_variant R1807H 5420G>A READ-US 10 50025369 50025369 single base substitution G A missense_variant R353H 1058G>A READ-US 10 50025369 50025369 single base substitution G A upstream_gene_variant READ-US 10 50025430 50025430 single base substitution C T 3_prime_UTR_variant READ-US 10 50025430 50025430 single base substitution C T synonymous_variant A1827A 5481C>T READ-US 10 50025430 50025430 single base substitution C T synonymous_variant A373A 1119C>T READ-US 10 50025430 50025430 single base substitution C T upstream_gene_variant READ-US 10 50098713 50098713 single base substitution C T 3_prime_UTR_variant READ-US 10 50098713 50098713 single base substitution C T synonymous_variant C2419C 7257C>T READ-US 10 50098713 50098713 single base substitution C T synonymous_variant C505C 1515C>T READ-US 10 50121506 50121506 single base substitution G A intron_variant READ-US 10 50121895 50121895 single base substitution G A intron_variant RECA-EU 10 49895281 49895281 single base substitution A T intron_variant RECA-EU 10 49900278 49900278 single base substitution C G intron_variant RECA-EU 10 49904481 49904481 single base substitution T G intron_variant RECA-EU 10 49925820 49925820 single base substitution A T intron_variant RECA-EU 10 49929698 49929698 single base substitution T A intron_variant RECA-EU 10 49932385 49932385 single base substitution T G intron_variant RECA-EU 10 49934840 49934840 single base substitution C G intron_variant RECA-EU 10 49939991 49939991 single base substitution T C intron_variant RECA-EU 10 49946296 49946296 single base substitution A T downstream_gene_variant RECA-EU 10 49946296 49946296 single base substitution A T intron_variant RECA-EU 10 49955656 49955656 single base substitution G C intron_variant RECA-EU 10 49957230 49957230 single base substitution A C intron_variant RECA-EU 10 49961674 49961674 single base substitution A T intron_variant RECA-EU 10 49965722 49965722 single base substitution G A intron_variant RECA-EU 10 49985353 49985353 single base substitution T A intron_variant RECA-EU 10 49986813 49986813 single base substitution C A intron_variant RECA-EU 10 49986813 49986813 single base substitution C A synonymous_variant V1111V 3333C>A RECA-EU 10 50003823 50003823 single base substitution T A intron_variant RECA-EU 10 50008760 50008760 single base substitution T A intron_variant RECA-EU 10 50008760 50008760 single base substitution T A upstream_gene_variant RECA-EU 10 50008768 50008768 single base substitution A T intron_variant RECA-EU 10 50008768 50008768 single base substitution A T upstream_gene_variant RECA-EU 10 50012986 50012986 single base substitution C A intron_variant RECA-EU 10 50020825 50020825 single base substitution G C intron_variant RECA-EU 10 50042797 50042797 single base substitution A G intron_variant RECA-EU 10 50048651 50048651 single base substitution G C intron_variant RECA-EU 10 50056883 50056883 single base substitution C A intron_variant RECA-EU 10 50080521 50080521 single base substitution G A intron_variant RECA-EU 10 50082459 50082459 single base substitution A T intron_variant RECA-EU 10 50092732 50092732 single base substitution C T intron_variant RECA-EU 10 50101743 50101743 single base substitution A C intron_variant RECA-EU 10 50114548 50114548 single base substitution G A intron_variant RECA-EU 10 50119633 50119633 single base substitution T A intron_variant RECA-EU 10 50120184 50120184 single base substitution C G intron_variant RECA-EU 10 50126592 50126592 single base substitution C G intron_variant RECA-EU 10 50129634 50129634 single base substitution C T intron_variant RECA-EU 10 50133898 50133898 single base substitution G T intron_variant RECA-EU 10 50150458 50150458 single base substitution T C intron_variant RECA-EU 10 50150458 50150458 single base substitution T C upstream_gene_variant RECA-EU 10 50158973 50158973 single base substitution T A intron_variant RECA-EU 10 50159026 50159026 single base substitution G T intron_variant RECA-EU 10 50169681 50169681 single base substitution C T intron_variant RECA-EU 10 50171381 50171381 single base substitution T G intron_variant RECA-EU 10 50172899 50172899 single base substitution C T intron_variant RECA-EU 10 50172899 50172899 single base substitution C T upstream_gene_variant RECA-EU 10 50173371 50173371 single base substitution A C intron_variant RECA-EU 10 50173371 50173371 single base substitution A C upstream_gene_variant RECA-EU 10 50173911 50173911 single base substitution A T intron_variant RECA-EU 10 50173911 50173911 single base substitution A T upstream_gene_variant RECA-EU 10 50175148 50175148 single base substitution A T exon_variant RECA-EU 10 50175148 50175148 single base substitution A T intron_variant RECA-EU 10 50175148 50175148 single base substitution A T upstream_gene_variant RECA-EU 10 50175203 50175203 single base substitution C A exon_variant RECA-EU 10 50175203 50175203 single base substitution C A intron_variant RECA-EU 10 50175203 50175203 single base substitution C A upstream_gene_variant RECA-EU 10 50175848 50175848 single base substitution G A exon_variant RECA-EU 10 50175848 50175848 single base substitution G A intron_variant RECA-EU 10 50175848 50175848 single base substitution G A upstream_gene_variant RECA-EU 10 50186026 50186026 single base substitution G A downstream_gene_variant RECA-EU 10 50186026 50186026 single base substitution G A intron_variant RECA-EU 10 50186026 50186026 single base substitution G A upstream_gene_variant RECA-EU 10 50187587 50187587 single base substitution G T downstream_gene_variant RECA-EU 10 50187587 50187587 single base substitution G T intron_variant SKCA-BR 10 49888950 49888950 single base substitution C T upstream_gene_variant SKCA-BR 10 49889174 49889174 single base substitution G A upstream_gene_variant SKCA-BR 10 49889654 49889654 single base substitution G A upstream_gene_variant SKCA-BR 10 49890153 49890153 single base substitution C T upstream_gene_variant SKCA-BR 10 49890606 49890606 single base substitution G A upstream_gene_variant SKCA-BR 10 49891173 49891173 single base substitution G A upstream_gene_variant SKCA-BR 10 49891416 49891416 single base substitution C T upstream_gene_variant SKCA-BR 10 49891960 49891960 single base substitution C A upstream_gene_variant SKCA-BR 10 49893359 49893359 single base substitution C T intron_variant SKCA-BR 10 49893476 49893476 single base substitution C T intron_variant SKCA-BR 10 49893592 49893592 single base substitution C T intron_variant SKCA-BR 10 49894347 49894347 single base substitution G A intron_variant SKCA-BR 10 49894969 49894969 single base substitution C T intron_variant SKCA-BR 10 49895259 49895259 single base substitution C T intron_variant SKCA-BR 10 49896098 49896098 single base substitution G A intron_variant SKCA-BR 10 49896264 49896264 single base substitution C T intron_variant SKCA-BR 10 49896575 49896575 single base substitution C T intron_variant SKCA-BR 10 49897296 49897296 single base substitution G A intron_variant SKCA-BR 10 49897635 49897635 single base substitution G A intron_variant SKCA-BR 10 49898321 49898321 single base substitution C A intron_variant SKCA-BR 10 49898805 49898805 single base substitution C T intron_variant SKCA-BR 10 49898808 49898808 single base substitution C T intron_variant SKCA-BR 10 49898868 49898868 single base substitution G A intron_variant SKCA-BR 10 49898996 49898996 single base substitution G A intron_variant SKCA-BR 10 49900485 49900485 single base substitution C T intron_variant SKCA-BR 10 49900614 49900614 single base substitution G A intron_variant SKCA-BR 10 49901005 49901005 single base substitution T C intron_variant SKCA-BR 10 49903037 49903037 single base substitution G T intron_variant SKCA-BR 10 49904599 49904599 single base substitution C T intron_variant SKCA-BR 10 49905395 49905395 single base substitution C T intron_variant SKCA-BR 10 49905927 49905927 single base substitution C T intron_variant SKCA-BR 10 49906219 49906219 single base substitution G A intron_variant SKCA-BR 10 49906301 49906301 single base substitution C T intron_variant SKCA-BR 10 49906422 49906422 single base substitution T C intron_variant SKCA-BR 10 49908518 49908518 single base substitution C T intron_variant SKCA-BR 10 49908577 49908577 single base substitution C T intron_variant SKCA-BR 10 49909088 49909088 single base substitution G A intron_variant SKCA-BR 10 49909942 49909942 single base substitution G A intron_variant SKCA-BR 10 49910657 49910657 single base substitution G A intron_variant SKCA-BR 10 49911826 49911826 single base substitution C T intron_variant SKCA-BR 10 49913423 49913423 single base substitution C T intron_variant SKCA-BR 10 49913423 49913423 single base substitution C T upstream_gene_variant SKCA-BR 10 49913424 49913424 single base substitution C T intron_variant SKCA-BR 10 49913424 49913424 single base substitution C T upstream_gene_variant SKCA-BR 10 49915474 49915474 single base substitution G A intron_variant SKCA-BR 10 49915474 49915474 single base substitution G A upstream_gene_variant SKCA-BR 10 49918564 49918564 single base substitution T G intron_variant SKCA-BR 10 49918595 49918595 single base substitution C T intron_variant SKCA-BR 10 49918596 49918596 single base substitution C T intron_variant SKCA-BR 10 49919801 49919801 single base substitution C T intron_variant SKCA-BR 10 49919838 49919838 single base substitution G A intron_variant SKCA-BR 10 49920271 49920271 single base substitution C A intron_variant SKCA-BR 10 49920410 49920410 single base substitution G A intron_variant SKCA-BR 10 49920898 49920898 single base substitution G A intron_variant SKCA-BR 10 49921017 49921017 single base substitution G A intron_variant SKCA-BR 10 49922191 49922191 single base substitution C T intron_variant SKCA-BR 10 49922229 49922229 single base substitution C T intron_variant SKCA-BR 10 49923144 49923144 single base substitution G A intron_variant SKCA-BR 10 49923260 49923260 single base substitution C T intron_variant SKCA-BR 10 49923321 49923321 single base substitution G A intron_variant SKCA-BR 10 49923848 49923848 single base substitution C T intron_variant SKCA-BR 10 49923893 49923893 single base substitution A G intron_variant SKCA-BR 10 49923964 49923964 single base substitution G A intron_variant SKCA-BR 10 49924953 49924953 single base substitution G A intron_variant SKCA-BR 10 49926092 49926092 single base substitution C T intron_variant SKCA-BR 10 49926498 49926498 single base substitution G A intron_variant SKCA-BR 10 49926658 49926658 single base substitution G A intron_variant SKCA-BR 10 49927956 49927956 single base substitution G A intron_variant SKCA-BR 10 49928308 49928308 single base substitution G A intron_variant SKCA-BR 10 49928362 49928362 single base substitution G T intron_variant SKCA-BR 10 49928399 49928399 single base substitution A T intron_variant SKCA-BR 10 49929331 49929331 single base substitution G A synonymous_variant Q125Q 375G>A SKCA-BR 10 49930223 49930223 single base substitution G A intron_variant SKCA-BR 10 49930305 49930305 single base substitution G A intron_variant SKCA-BR 10 49930428 49930428 single base substitution G A intron_variant SKCA-BR 10 49932081 49932081 single base substitution C T intron_variant SKCA-BR 10 49932670 49932670 single base substitution G A intron_variant SKCA-BR 10 49933187 49933187 single base substitution G A intron_variant SKCA-BR 10 49933729 49933729 single base substitution G A intron_variant SKCA-BR 10 49934469 49934469 single base substitution G A intron_variant SKCA-BR 10 49934774 49934774 single base substitution C T intron_variant SKCA-BR 10 49935504 49935504 single base substitution C T intron_variant SKCA-BR 10 49936034 49936034 single base substitution G A intron_variant SKCA-BR 10 49936653 49936653 single base substitution C T intron_variant SKCA-BR 10 49936896 49936896 single base substitution C T intron_variant SKCA-BR 10 49937058 49937058 single base substitution T C intron_variant SKCA-BR 10 49937283 49937283 single base substitution G A intron_variant SKCA-BR 10 49937840 49937840 single base substitution G A intron_variant SKCA-BR 10 49939139 49939139 single base substitution T A intron_variant SKCA-BR 10 49940329 49940329 single base substitution G A intron_variant SKCA-BR 10 49940670 49940670 single base substitution A C intron_variant SKCA-BR 10 49941446 49941446 single base substitution G A intron_variant SKCA-BR 10 49942389 49942389 single base substitution C T intron_variant SKCA-BR 10 49942627 49942627 single base substitution G A intron_variant SKCA-BR 10 49942673 49942673 single base substitution T G intron_variant SKCA-BR 10 49942705 49942705 single base substitution G A intron_variant SKCA-BR 10 49943723 49943723 single base substitution C T intron_variant SKCA-BR 10 49943728 49943728 single base substitution G A intron_variant SKCA-BR 10 49945738 49945738 single base substitution G A downstream_gene_variant SKCA-BR 10 49945738 49945738 single base substitution G A intron_variant SKCA-BR 10 49946304 49946304 single base substitution C T downstream_gene_variant SKCA-BR 10 49946304 49946304 single base substitution C T intron_variant SKCA-BR 10 49946581 49946581 single base substitution G A downstream_gene_variant SKCA-BR 10 49946581 49946581 single base substitution G A intron_variant SKCA-BR 10 49946620 49946620 single base substitution G A downstream_gene_variant SKCA-BR 10 49946620 49946620 single base substitution G A intron_variant SKCA-BR 10 49946804 49946804 single base substitution G A downstream_gene_variant SKCA-BR 10 49946804 49946804 single base substitution G A intron_variant SKCA-BR 10 49948317 49948317 single base substitution G A downstream_gene_variant SKCA-BR 10 49948317 49948317 single base substitution G A intron_variant SKCA-BR 10 49949526 49949526 single base substitution T A intron_variant SKCA-BR 10 49950490 49950490 single base substitution G A intron_variant SKCA-BR 10 49951014 49951014 single base substitution C T missense_variant S627F 1880C>T SKCA-BR 10 49951019 49951019 single base substitution C G missense_variant L629V 1885C>G SKCA-BR 10 49951121 49951121 single base substitution G A missense_variant E663K 1987G>A SKCA-BR 10 49951152 49951152 single base substitution C T missense_variant S673F 2018C>T SKCA-BR 10 49951676 49951676 single base substitution G A intron_variant SKCA-BR 10 49951896 49951896 single base substitution G T intron_variant SKCA-BR 10 49952337 49952337 single base substitution C T intron_variant SKCA-BR 10 49952613 49952613 single base substitution G A intron_variant SKCA-BR 10 49953188 49953188 single base substitution C T intron_variant SKCA-BR 10 49953479 49953479 single base substitution G A intron_variant SKCA-BR 10 49954334 49954334 single base substitution G A intron_variant SKCA-BR 10 49954737 49954737 single base substitution G A intron_variant SKCA-BR 10 49955927 49955927 single base substitution T A intron_variant SKCA-BR 10 49956224 49956224 single base substitution G A intron_variant SKCA-BR 10 49956440 49956440 single base substitution C T intron_variant SKCA-BR 10 49957825 49957825 single base substitution T G intron_variant SKCA-BR 10 49958366 49958366 single base substitution C T intron_variant SKCA-BR 10 49958374 49958374 single base substitution G A intron_variant SKCA-BR 10 49958983 49958983 single base substitution G A intron_variant SKCA-BR 10 49959010 49959010 single base substitution G A intron_variant SKCA-BR 10 49964112 49964112 single base substitution C T intron_variant SKCA-BR 10 49964856 49964856 single base substitution C T intron_variant SKCA-BR 10 49965437 49965437 single base substitution C T intron_variant SKCA-BR 10 49966710 49966710 single base substitution G A intron_variant SKCA-BR 10 49967004 49967004 single base substitution C T intron_variant SKCA-BR 10 49967505 49967505 single base substitution G A intron_variant SKCA-BR 10 49967548 49967548 single base substitution G A intron_variant SKCA-BR 10 49968208 49968208 single base substitution G A intron_variant SKCA-BR 10 49969414 49969414 single base substitution G A intron_variant SKCA-BR 10 49969712 49969712 single base substitution A C intron_variant SKCA-BR 10 49969934 49969934 single base substitution C T intron_variant SKCA-BR 10 49970353 49970353 single base substitution G A intron_variant SKCA-BR 10 49970690 49970690 single base substitution C T intron_variant SKCA-BR 10 49971143 49971143 single base substitution G A intron_variant SKCA-BR 10 49971741 49971741 single base substitution G A intron_variant SKCA-BR 10 49973396 49973396 single base substitution G A intron_variant SKCA-BR 10 49974144 49974144 single base substitution C T intron_variant SKCA-BR 10 49975639 49975639 single base substitution G A intron_variant SKCA-BR 10 49975640 49975640 single base substitution G A intron_variant SKCA-BR 10 49976512 49976512 single base substitution C T intron_variant SKCA-BR 10 49976570 49976570 single base substitution C T intron_variant SKCA-BR 10 49976768 49976774 deletion of <=200bp AAGAGAG - intron_variant SKCA-BR 10 49980472 49980472 single base substitution G A intron_variant SKCA-BR 10 49980601 49980601 single base substitution T A intron_variant SKCA-BR 10 49980917 49980917 single base substitution G A intron_variant SKCA-BR 10 49981996 49981996 single base substitution G A intron_variant SKCA-BR 10 49982601 49982601 single base substitution G A synonymous_variant G884G 2652G>A SKCA-BR 10 49983543 49983543 single base substitution T C intron_variant SKCA-BR 10 49985226 49985226 single base substitution T C intron_variant SKCA-BR 10 49985447 49985447 single base substitution C A intron_variant SKCA-BR 10 49986494 49986494 single base substitution C T intron_variant SKCA-BR 10 49987260 49987260 single base substitution G A intron_variant SKCA-BR 10 49989765 49989765 single base substitution T C intron_variant SKCA-BR 10 49990529 49990529 single base substitution C T intron_variant SKCA-BR 10 49991990 49991990 single base substitution G A intron_variant SKCA-BR 10 49992318 49992318 single base substitution C T intron_variant SKCA-BR 10 49992689 49992689 single base substitution T C intron_variant SKCA-BR 10 49993471 49993471 single base substitution C T intron_variant SKCA-BR 10 49993722 49993722 single base substitution C T intron_variant SKCA-BR 10 49995425 49995425 single base substitution G A intron_variant SKCA-BR 10 49995852 49995852 insertion of <=200bp - CTCCTCTTCTTCT intron_variant SKCA-BR 10 49995855 49995855 single base substitution T C intron_variant SKCA-BR 10 49995938 49995938 single base substitution C T intron_variant SKCA-BR 10 49996025 49996025 single base substitution T C intron_variant SKCA-BR 10 49996377 49996377 single base substitution G A intron_variant SKCA-BR 10 49999411 49999411 single base substitution G A intron_variant SKCA-BR 10 50000964 50000964 single base substitution G A intron_variant SKCA-BR 10 50002496 50002496 single base substitution G A intron_variant SKCA-BR 10 50003536 50003536 insertion of <=200bp - GTA intron_variant SKCA-BR 10 50003567 50003581 deletion of <=200bp TACATATATATATAC - intron_variant SKCA-BR 10 50004230 50004230 single base substitution G A intron_variant SKCA-BR 10 50006365 50006365 single base substitution G A intron_variant SKCA-BR 10 50006365 50006365 single base substitution G A upstream_gene_variant SKCA-BR 10 50009484 50009484 single base substitution C T intron_variant SKCA-BR 10 50009484 50009484 single base substitution C T upstream_gene_variant SKCA-BR 10 50010008 50010008 single base substitution G A intron_variant SKCA-BR 10 50010008 50010008 single base substitution G A upstream_gene_variant SKCA-BR 10 50010296 50010296 single base substitution C T intron_variant SKCA-BR 10 50010296 50010296 single base substitution C T upstream_gene_variant SKCA-BR 10 50011884 50011884 single base substitution C T intron_variant SKCA-BR 10 50012607 50012608 deletion of <=200bp CA - intron_variant SKCA-BR 10 50012749 50012749 single base substitution T A intron_variant SKCA-BR 10 50014241 50014241 single base substitution A G intron_variant SKCA-BR 10 50014259 50014259 single base substitution C T intron_variant SKCA-BR 10 50017333 50017333 single base substitution G A intron_variant SKCA-BR 10 50017818 50017818 single base substitution G A intron_variant SKCA-BR 10 50018186 50018186 single base substitution G A intron_variant SKCA-BR 10 50019001 50019001 single base substitution C T intron_variant SKCA-BR 10 50019014 50019014 single base substitution C G intron_variant SKCA-BR 10 50020235 50020235 single base substitution G T intron_variant SKCA-BR 10 50022537 50022537 single base substitution C T intron_variant SKCA-BR 10 50022679 50022679 single base substitution T A intron_variant SKCA-BR 10 50024006 50024006 single base substitution C T intron_variant SKCA-BR 10 50025535 50025535 single base substitution C T intron_variant SKCA-BR 10 50025535 50025535 single base substitution C T upstream_gene_variant SKCA-BR 10 50025628 50025628 single base substitution C T intron_variant SKCA-BR 10 50025628 50025628 single base substitution C T upstream_gene_variant SKCA-BR 10 50026281 50026281 single base substitution G A intron_variant SKCA-BR 10 50026281 50026281 single base substitution G A upstream_gene_variant SKCA-BR 10 50027035 50027035 single base substitution A C intron_variant SKCA-BR 10 50027035 50027035 single base substitution A C upstream_gene_variant SKCA-BR 10 50028194 50028194 single base substitution A T intron_variant SKCA-BR 10 50028194 50028194 single base substitution A T upstream_gene_variant SKCA-BR 10 50030766 50030766 single base substitution C T intron_variant SKCA-BR 10 50031329 50031329 single base substitution C T 3_prime_UTR_variant SKCA-BR 10 50031329 50031329 single base substitution C T intron_variant SKCA-BR 10 50031790 50031790 single base substitution A G 3_prime_UTR_variant SKCA-BR 10 50031790 50031790 single base substitution A G intron_variant SKCA-BR 10 50032077 50032077 single base substitution T A 3_prime_UTR_variant SKCA-BR 10 50032077 50032077 single base substitution T A intron_variant SKCA-BR 10 50032194 50032194 single base substitution C T 3_prime_UTR_variant SKCA-BR 10 50032194 50032194 single base substitution C T intron_variant SKCA-BR 10 50032770 50032770 single base substitution G A downstream_gene_variant SKCA-BR 10 50032770 50032770 single base substitution G A intron_variant SKCA-BR 10 50033012 50033012 single base substitution C T downstream_gene_variant SKCA-BR 10 50033012 50033012 single base substitution C T intron_variant SKCA-BR 10 50033340 50033340 single base substitution C T downstream_gene_variant SKCA-BR 10 50033340 50033340 single base substitution C T intron_variant SKCA-BR 10 50033528 50033528 single base substitution G A downstream_gene_variant SKCA-BR 10 50033528 50033528 single base substitution G A intron_variant SKCA-BR 10 50033843 50033843 single base substitution G A downstream_gene_variant SKCA-BR 10 50033843 50033843 single base substitution G A intron_variant SKCA-BR 10 50034563 50034563 single base substitution G T downstream_gene_variant SKCA-BR 10 50034563 50034563 single base substitution G T intron_variant SKCA-BR 10 50034848 50034848 single base substitution C T 3_prime_UTR_variant SKCA-BR 10 50034848 50034848 single base substitution C T downstream_gene_variant SKCA-BR 10 50034848 50034848 single base substitution C T synonymous_variant L125L 373C>T SKCA-BR 10 50034848 50034848 single base substitution C T synonymous_variant L2039L 6115C>T SKCA-BR 10 50035672 50035672 single base substitution G A downstream_gene_variant SKCA-BR 10 50035672 50035672 single base substitution G A intron_variant SKCA-BR 10 50035992 50035992 single base substitution G A downstream_gene_variant SKCA-BR 10 50035992 50035992 single base substitution G A intron_variant SKCA-BR 10 50036207 50036207 single base substitution G T downstream_gene_variant SKCA-BR 10 50036207 50036207 single base substitution G T intron_variant SKCA-BR 10 50036515 50036515 single base substitution G A downstream_gene_variant SKCA-BR 10 50036515 50036515 single base substitution G A intron_variant SKCA-BR 10 50036802 50036802 single base substitution G A downstream_gene_variant SKCA-BR 10 50036802 50036802 single base substitution G A intron_variant SKCA-BR 10 50037485 50037485 single base substitution C G intron_variant SKCA-BR 10 50038285 50038285 single base substitution G A intron_variant SKCA-BR 10 50038406 50038406 single base substitution C T intron_variant SKCA-BR 10 50039341 50039341 single base substitution C T intron_variant SKCA-BR 10 50039342 50039342 single base substitution C T intron_variant SKCA-BR 10 50041215 50041215 insertion of <=200bp - TGAGA intron_variant SKCA-BR 10 50041217 50041219 deletion of <=200bp TGA - intron_variant SKCA-BR 10 50042122 50042122 single base substitution G A intron_variant SKCA-BR 10 50043104 50043104 single base substitution C T intron_variant SKCA-BR 10 50043141 50043141 single base substitution A G intron_variant SKCA-BR 10 50044753 50044753 single base substitution C T intron_variant SKCA-BR 10 50044977 50044977 single base substitution T A intron_variant SKCA-BR 10 50046622 50046622 single base substitution C T intron_variant SKCA-BR 10 50049824 50049824 single base substitution C T intron_variant SKCA-BR 10 50050130 50050130 single base substitution G A intron_variant SKCA-BR 10 50050697 50050697 single base substitution T A intron_variant SKCA-BR 10 50050713 50050713 single base substitution C T intron_variant SKCA-BR 10 50051111 50051111 single base substitution G A intron_variant SKCA-BR 10 50052155 50052155 single base substitution G A intron_variant SKCA-BR 10 50052641 50052641 single base substitution C A intron_variant SKCA-BR 10 50052793 50052793 single base substitution C T intron_variant SKCA-BR 10 50053575 50053575 single base substitution G A intron_variant SKCA-BR 10 50053823 50053823 single base substitution G A intron_variant SKCA-BR 10 50053867 50053872 deletion of <=200bp ATACAG - intron_variant SKCA-BR 10 50054959 50054959 single base substitution G T intron_variant SKCA-BR 10 50055380 50055380 single base substitution T C intron_variant SKCA-BR 10 50056954 50056954 single base substitution C T intron_variant SKCA-BR 10 50057201 50057201 single base substitution G A intron_variant SKCA-BR 10 50057325 50057325 single base substitution C T intron_variant SKCA-BR 10 50059433 50059433 single base substitution G A intron_variant SKCA-BR 10 50059529 50059529 single base substitution G A intron_variant SKCA-BR 10 50060201 50060201 single base substitution C T intron_variant SKCA-BR 10 50060751 50060751 single base substitution C T intron_variant SKCA-BR 10 50061148 50061148 single base substitution C T intron_variant SKCA-BR 10 50062218 50062218 single base substitution G A intron_variant SKCA-BR 10 50062527 50062527 single base substitution C T intron_variant SKCA-BR 10 50063251 50063251 single base substitution G A intron_variant SKCA-BR 10 50065376 50065376 single base substitution G A intron_variant SKCA-BR 10 50065529 50065529 single base substitution G A intron_variant SKCA-BR 10 50066589 50066589 single base substitution C T intron_variant SKCA-BR 10 50066956 50066956 single base substitution C T intron_variant SKCA-BR 10 50067348 50067348 single base substitution T C intron_variant SKCA-BR 10 50068586 50068586 single base substitution C T intron_variant SKCA-BR 10 50068761 50068761 single base substitution T A intron_variant SKCA-BR 10 50069099 50069099 single base substitution T A intron_variant SKCA-BR 10 50069796 50069796 single base substitution A T intron_variant SKCA-BR 10 50069808 50069808 single base substitution A T intron_variant SKCA-BR 10 50069832 50069832 single base substitution A C intron_variant SKCA-BR 10 50070648 50070648 single base substitution A G intron_variant SKCA-BR 10 50070909 50070909 single base substitution C T intron_variant SKCA-BR 10 50070928 50070928 single base substitution C T intron_variant SKCA-BR 10 50072545 50072545 single base substitution G A intron_variant SKCA-BR 10 50073288 50073288 single base substitution C T intron_variant SKCA-BR 10 50075461 50075461 single base substitution G A intron_variant SKCA-BR 10 50075735 50075735 single base substitution G A intron_variant SKCA-BR 10 50075968 50075968 single base substitution G A intron_variant SKCA-BR 10 50076084 50076084 single base substitution G A intron_variant SKCA-BR 10 50076274 50076274 single base substitution G T intron_variant SKCA-BR 10 50076473 50076473 single base substitution C T intron_variant SKCA-BR 10 50077537 50077537 single base substitution C T intron_variant SKCA-BR 10 50077954 50077954 single base substitution G A intron_variant SKCA-BR 10 50077955 50077955 single base substitution G A intron_variant SKCA-BR 10 50080669 50080669 single base substitution G A intron_variant SKCA-BR 10 50081018 50081018 single base substitution G A intron_variant SKCA-BR 10 50081110 50081110 single base substitution C T intron_variant SKCA-BR 10 50081318 50081318 single base substitution C T intron_variant SKCA-BR 10 50082321 50082321 single base substitution C T intron_variant SKCA-BR 10 50082368 50082368 single base substitution C T intron_variant SKCA-BR 10 50082682 50082682 single base substitution G A intron_variant SKCA-BR 10 50084016 50084016 single base substitution G A intron_variant SKCA-BR 10 50085386 50085386 single base substitution G A intron_variant SKCA-BR 10 50085432 50085432 single base substitution C A intron_variant SKCA-BR 10 50085433 50085433 single base substitution A G intron_variant SKCA-BR 10 50085847 50085847 single base substitution G A intron_variant SKCA-BR 10 50086273 50086273 single base substitution G A intron_variant SKCA-BR 10 50087272 50087272 single base substitution C T intron_variant SKCA-BR 10 50087756 50087756 single base substitution C T intron_variant SKCA-BR 10 50087772 50087772 single base substitution T C intron_variant SKCA-BR 10 50087790 50087790 single base substitution C T intron_variant SKCA-BR 10 50088103 50088103 single base substitution C T intron_variant SKCA-BR 10 50088503 50088503 single base substitution C T intron_variant SKCA-BR 10 50088866 50088866 single base substitution C T intron_variant SKCA-BR 10 50089093 50089093 single base substitution G A intron_variant SKCA-BR 10 50089841 50089841 single base substitution C T intron_variant SKCA-BR 10 50090216 50090216 single base substitution G A intron_variant SKCA-BR 10 50090594 50090594 single base substitution T C intron_variant SKCA-BR 10 50090926 50090926 single base substitution C T intron_variant SKCA-BR 10 50091081 50091081 single base substitution A T intron_variant SKCA-BR 10 50091396 50091396 single base substitution C T intron_variant SKCA-BR 10 50092719 50092719 single base substitution C T intron_variant SKCA-BR 10 50093149 50093149 single base substitution C T intron_variant SKCA-BR 10 50093260 50093260 single base substitution G A intron_variant SKCA-BR 10 50093508 50093508 single base substitution C T intron_variant SKCA-BR 10 50093903 50093903 single base substitution G T intron_variant SKCA-BR 10 50094015 50094015 single base substitution C T intron_variant SKCA-BR 10 50094940 50094940 single base substitution C T intron_variant SKCA-BR 10 50095606 50095606 single base substitution G A intron_variant SKCA-BR 10 50098281 50098281 single base substitution C T intron_variant SKCA-BR 10 50098578 50098578 single base substitution G A intron_variant SKCA-BR 10 50099088 50099088 single base substitution G A intron_variant SKCA-BR 10 50099915 50099915 single base substitution G A intron_variant SKCA-BR 10 50100570 50100570 single base substitution C T intron_variant SKCA-BR 10 50100768 50100768 single base substitution G T intron_variant SKCA-BR 10 50101183 50101183 single base substitution C T intron_variant SKCA-BR 10 50102588 50102588 single base substitution C T intron_variant SKCA-BR 10 50105346 50105346 single base substitution G A intron_variant SKCA-BR 10 50105807 50105807 single base substitution T A intron_variant SKCA-BR 10 50106097 50106097 single base substitution C T intron_variant SKCA-BR 10 50106313 50106313 single base substitution G A intron_variant SKCA-BR 10 50106407 50106407 single base substitution C T intron_variant SKCA-BR 10 50106433 50106433 single base substitution A T intron_variant SKCA-BR 10 50106497 50106497 single base substitution C T intron_variant SKCA-BR 10 50106900 50106900 single base substitution C T intron_variant SKCA-BR 10 50107532 50107532 single base substitution C A intron_variant SKCA-BR 10 50107766 50107766 single base substitution G A intron_variant SKCA-BR 10 50107829 50107829 single base substitution G A intron_variant SKCA-BR 10 50108297 50108297 single base substitution G A 3_prime_UTR_variant SKCA-BR 10 50108297 50108297 single base substitution G A missense_variant G2490E 7469G>A SKCA-BR 10 50108297 50108297 single base substitution G A missense_variant G576E 1727G>A SKCA-BR 10 50108371 50108371 single base substitution C T intron_variant SKCA-BR 10 50108375 50108375 single base substitution C T intron_variant SKCA-BR 10 50108647 50108647 single base substitution G A intron_variant SKCA-BR 10 50108737 50108737 single base substitution C T intron_variant SKCA-BR 10 50109419 50109419 single base substitution C T intron_variant SKCA-BR 10 50110408 50110408 single base substitution C T intron_variant SKCA-BR 10 50110738 50110738 single base substitution G A intron_variant SKCA-BR 10 50110831 50110831 single base substitution A G intron_variant SKCA-BR 10 50110976 50110976 single base substitution G A intron_variant SKCA-BR 10 50112510 50112510 single base substitution G A intron_variant SKCA-BR 10 50112558 50112558 single base substitution G A intron_variant SKCA-BR 10 50113395 50113395 single base substitution G A intron_variant SKCA-BR 10 50113739 50113739 single base substitution G A intron_variant SKCA-BR 10 50114913 50114913 single base substitution A T intron_variant SKCA-BR 10 50114955 50114955 single base substitution G A intron_variant SKCA-BR 10 50115213 50115213 single base substitution C T intron_variant SKCA-BR 10 50115315 50115315 single base substitution A G intron_variant SKCA-BR 10 50115650 50115650 single base substitution G T intron_variant SKCA-BR 10 50115652 50115652 single base substitution G A intron_variant SKCA-BR 10 50115952 50115952 single base substitution C T intron_variant SKCA-BR 10 50115953 50115953 single base substitution C T intron_variant SKCA-BR 10 50116179 50116179 single base substitution T C intron_variant SKCA-BR 10 50116574 50116574 single base substitution G A intron_variant SKCA-BR 10 50117027 50117027 single base substitution C T intron_variant SKCA-BR 10 50118234 50118234 single base substitution C T intron_variant SKCA-BR 10 50119273 50119273 single base substitution A G intron_variant SKCA-BR 10 50120385 50120385 single base substitution C T intron_variant SKCA-BR 10 50120954 50120954 single base substitution C T intron_variant SKCA-BR 10 50123307 50123307 single base substitution C T intron_variant SKCA-BR 10 50123679 50123679 single base substitution A C intron_variant SKCA-BR 10 50124651 50124651 single base substitution C T intron_variant SKCA-BR 10 50124679 50124679 single base substitution G A intron_variant SKCA-BR 10 50124695 50124695 single base substitution G A intron_variant SKCA-BR 10 50124738 50124738 single base substitution G A intron_variant SKCA-BR 10 50124871 50124873 deletion of <=200bp GAC - intron_variant SKCA-BR 10 50125236 50125236 single base substitution G A intron_variant SKCA-BR 10 50125824 50125824 single base substitution C A intron_variant SKCA-BR 10 50126636 50126636 single base substitution G A intron_variant SKCA-BR 10 50127173 50127173 single base substitution G A intron_variant SKCA-BR 10 50127180 50127180 single base substitution C T intron_variant SKCA-BR 10 50129205 50129205 single base substitution G A intron_variant SKCA-BR 10 50130170 50130170 single base substitution C T intron_variant SKCA-BR 10 50130652 50130652 single base substitution C T intron_variant SKCA-BR 10 50131055 50131055 single base substitution C T intron_variant SKCA-BR 10 50131792 50131792 single base substitution T C intron_variant SKCA-BR 10 50132597 50132597 single base substitution C T intron_variant SKCA-BR 10 50133442 50133442 single base substitution G T intron_variant SKCA-BR 10 50134056 50134056 single base substitution G A intron_variant SKCA-BR 10 50136059 50136059 single base substitution G A intron_variant SKCA-BR 10 50136182 50136182 single base substitution G A intron_variant SKCA-BR 10 50136284 50136284 single base substitution G A intron_variant SKCA-BR 10 50136292 50136292 single base substitution G A intron_variant SKCA-BR 10 50136398 50136398 insertion of <=200bp - CGT intron_variant SKCA-BR 10 50137147 50137147 single base substitution G C intron_variant SKCA-BR 10 50137234 50137234 single base substitution C T intron_variant SKCA-BR 10 50138278 50138278 single base substitution A G intron_variant SKCA-BR 10 50139141 50139151 deletion of <=200bp AACACACACAC - intron_variant SKCA-BR 10 50139726 50139726 single base substitution C T intron_variant SKCA-BR 10 50140285 50140285 single base substitution A G intron_variant SKCA-BR 10 50140802 50140802 single base substitution C A intron_variant SKCA-BR 10 50142554 50142554 single base substitution T C intron_variant SKCA-BR 10 50143591 50143591 single base substitution T C intron_variant SKCA-BR 10 50144050 50144050 single base substitution G A intron_variant SKCA-BR 10 50144974 50144974 single base substitution G T intron_variant SKCA-BR 10 50145753 50145753 single base substitution G A intron_variant SKCA-BR 10 50145953 50145953 single base substitution T C intron_variant SKCA-BR 10 50146926 50146926 single base substitution G A intron_variant SKCA-BR 10 50148898 50148898 single base substitution C T intron_variant SKCA-BR 10 50149308 50149308 single base substitution G A intron_variant SKCA-BR 10 50149308 50149308 single base substitution G A upstream_gene_variant SKCA-BR 10 50149495 50149495 single base substitution C T intron_variant SKCA-BR 10 50149495 50149495 single base substitution C T upstream_gene_variant SKCA-BR 10 50149532 50149532 single base substitution A G intron_variant SKCA-BR 10 50149532 50149532 single base substitution A G upstream_gene_variant SKCA-BR 10 50149545 50149545 single base substitution T G intron_variant SKCA-BR 10 50149545 50149545 single base substitution T G upstream_gene_variant SKCA-BR 10 50149872 50149872 single base substitution G A 3_prime_UTR_variant SKCA-BR 10 50149872 50149872 single base substitution G A synonymous_variant R2536R 7608G>A SKCA-BR 10 50149872 50149872 single base substitution G A synonymous_variant R622R 1866G>A SKCA-BR 10 50149872 50149872 single base substitution G A upstream_gene_variant SKCA-BR 10 50150424 50150424 insertion of <=200bp - CGT intron_variant SKCA-BR 10 50150424 50150424 insertion of <=200bp - CGT upstream_gene_variant SKCA-BR 10 50150926 50150926 single base substitution C T intron_variant SKCA-BR 10 50150926 50150926 single base substitution C T upstream_gene_variant SKCA-BR 10 50150928 50150928 single base substitution C T intron_variant SKCA-BR 10 50150928 50150928 single base substitution C T upstream_gene_variant SKCA-BR 10 50150973 50150973 single base substitution C T intron_variant SKCA-BR 10 50150973 50150973 single base substitution C T upstream_gene_variant SKCA-BR 10 50151811 50151811 single base substitution T C intron_variant SKCA-BR 10 50151811 50151811 single base substitution T C upstream_gene_variant SKCA-BR 10 50154584 50154584 single base substitution C A intron_variant SKCA-BR 10 50156230 50156230 single base substitution C T intron_variant SKCA-BR 10 50157538 50157538 single base substitution C T intron_variant SKCA-BR 10 50158397 50158397 single base substitution C T intron_variant SKCA-BR 10 50159239 50159239 single base substitution C T intron_variant SKCA-BR 10 50160154 50160154 single base substitution G A intron_variant SKCA-BR 10 50161158 50161158 single base substitution C T intron_variant SKCA-BR 10 50161347 50161347 insertion of <=200bp - GTC intron_variant SKCA-BR 10 50161378 50161378 insertion of <=200bp - TCTCTCACACA intron_variant SKCA-BR 10 50161378 50161378 insertion of <=200bp - TCTCTCTCACACA intron_variant SKCA-BR 10 50161378 50161380 deletion of <=200bp TCA - intron_variant SKCA-BR 10 50161521 50161521 single base substitution C T intron_variant SKCA-BR 10 50161724 50161724 single base substitution C T intron_variant SKCA-BR 10 50162205 50162205 single base substitution G A intron_variant SKCA-BR 10 50163007 50163007 single base substitution C T intron_variant SKCA-BR 10 50163276 50163276 single base substitution G A intron_variant SKCA-BR 10 50163491 50163491 single base substitution C T intron_variant SKCA-BR 10 50164388 50164388 single base substitution G A intron_variant SKCA-BR 10 50164753 50164753 single base substitution C T intron_variant SKCA-BR 10 50164979 50164979 single base substitution C T intron_variant SKCA-BR 10 50165150 50165150 single base substitution T G intron_variant SKCA-BR 10 50166284 50166284 single base substitution C T intron_variant SKCA-BR 10 50166726 50166726 single base substitution G A intron_variant SKCA-BR 10 50167360 50167360 single base substitution C T intron_variant SKCA-BR 10 50167976 50167976 single base substitution G A intron_variant SKCA-BR 10 50168251 50168251 single base substitution G A intron_variant SKCA-BR 10 50168784 50168784 single base substitution A T intron_variant SKCA-BR 10 50168845 50168845 single base substitution C T intron_variant SKCA-BR 10 50169815 50169815 single base substitution G C intron_variant SKCA-BR 10 50172709 50172709 single base substitution T C intron_variant SKCA-BR 10 50172709 50172709 single base substitution T C upstream_gene_variant SKCA-BR 10 50173597 50173597 single base substitution T C intron_variant SKCA-BR 10 50173597 50173597 single base substitution T C upstream_gene_variant SKCA-BR 10 50173810 50173810 insertion of <=200bp - CTTATATCTATATCAGTTAGATATAGA intron_variant SKCA-BR 10 50173810 50173810 insertion of <=200bp - CTTATATCTATATCAGTTAGATATAGA upstream_gene_variant SKCA-BR 10 50173819 50173819 single base substitution A G intron_variant SKCA-BR 10 50173819 50173819 single base substitution A G upstream_gene_variant SKCA-BR 10 50173821 50173821 insertion of <=200bp - ATCAGTTAGATATAGATTATATCTGTA intron_variant SKCA-BR 10 50173821 50173821 insertion of <=200bp - ATCAGTTAGATATAGATTATATCTGTA upstream_gene_variant SKCA-BR 10 50173836 50173836 insertion of <=200bp - ATTATATCTGTATCAGTTAGATATAGA intron_variant SKCA-BR 10 50173836 50173836 insertion of <=200bp - ATTATATCTGTATCAGTTAGATATAGA upstream_gene_variant SKCA-BR 10 50173846 50173846 insertion of <=200bp - TATCAGTTAGATATAGATTATATCTGT intron_variant SKCA-BR 10 50173846 50173846 insertion of <=200bp - TATCAGTTAGATATAGATTATATCTGT upstream_gene_variant SKCA-BR 10 50173858 50173858 insertion of <=200bp - ATAGATTATATCTGTATCAGTTAGATA intron_variant SKCA-BR 10 50173858 50173858 insertion of <=200bp - ATAGATTATATCTGTATCAGTTAGATA upstream_gene_variant SKCA-BR 10 50173871 50173871 single base substitution A G intron_variant SKCA-BR 10 50173871 50173871 single base substitution A G upstream_gene_variant SKCA-BR 10 50173874 50173874 single base substitution C T intron_variant SKCA-BR 10 50173874 50173874 single base substitution C T upstream_gene_variant SKCA-BR 10 50173900 50173900 single base substitution T C intron_variant SKCA-BR 10 50173900 50173900 single base substitution T C upstream_gene_variant SKCA-BR 10 50173911 50173911 single base substitution A T intron_variant SKCA-BR 10 50173911 50173911 single base substitution A T upstream_gene_variant SKCA-BR 10 50175142 50175142 single base substitution C T exon_variant SKCA-BR 10 50175142 50175142 single base substitution C T intron_variant SKCA-BR 10 50175142 50175142 single base substitution C T upstream_gene_variant SKCA-BR 10 50175313 50175313 single base substitution G A exon_variant SKCA-BR 10 50175313 50175313 single base substitution G A intron_variant SKCA-BR 10 50175313 50175313 single base substitution G A upstream_gene_variant SKCA-BR 10 50176526 50176526 single base substitution C T exon_variant SKCA-BR 10 50176526 50176526 single base substitution C T intron_variant SKCA-BR 10 50176526 50176526 single base substitution C T upstream_gene_variant SKCA-BR 10 50178371 50178371 single base substitution G A intron_variant SKCA-BR 10 50181156 50181156 single base substitution T A intron_variant SKCA-BR 10 50182096 50182096 single base substitution C T intron_variant SKCA-BR 10 50182096 50182096 single base substitution C T upstream_gene_variant SKCA-BR 10 50183912 50183912 single base substitution A T intron_variant SKCA-BR 10 50183912 50183912 single base substitution A T upstream_gene_variant SKCA-BR 10 50184538 50184538 single base substitution T G intron_variant SKCA-BR 10 50184538 50184538 single base substitution T G upstream_gene_variant SKCA-BR 10 50185064 50185064 single base substitution A C downstream_gene_variant SKCA-BR 10 50185064 50185064 single base substitution A C intron_variant SKCA-BR 10 50185064 50185064 single base substitution A C upstream_gene_variant SKCA-BR 10 50186317 50186317 single base substitution G A downstream_gene_variant SKCA-BR 10 50186317 50186317 single base substitution G A intron_variant SKCA-BR 10 50186317 50186317 single base substitution G A upstream_gene_variant SKCA-BR 10 50187346 50187346 single base substitution G A downstream_gene_variant SKCA-BR 10 50187346 50187346 single base substitution G A intron_variant SKCA-BR 10 50188080 50188080 single base substitution G A downstream_gene_variant SKCA-BR 10 50188080 50188080 single base substitution G A intron_variant SKCA-BR 10 50188100 50188100 single base substitution A G downstream_gene_variant SKCA-BR 10 50188100 50188100 single base substitution A G intron_variant SKCA-BR 10 50188227 50188227 single base substitution G A downstream_gene_variant SKCA-BR 10 50188227 50188227 single base substitution G A intron_variant SKCA-BR 10 50189005 50189005 single base substitution C T downstream_gene_variant SKCA-BR 10 50189005 50189005 single base substitution C T intron_variant SKCA-BR 10 50189181 50189181 single base substitution G A downstream_gene_variant SKCA-BR 10 50189181 50189181 single base substitution G A intron_variant SKCA-BR 10 50190246 50190246 single base substitution T A intron_variant SKCA-BR 10 50190503 50190503 single base substitution A G intron_variant SKCA-BR 10 50191263 50191263 single base substitution T G downstream_gene_variant SKCA-BR 10 50191338 50191338 single base substitution C T downstream_gene_variant SKCA-BR 10 50191525 50191525 single base substitution C T downstream_gene_variant SKCA-BR 10 50191582 50191582 single base substitution C T downstream_gene_variant SKCA-BR 10 50191910 50191910 single base substitution G A downstream_gene_variant SKCA-BR 10 50192335 50192335 single base substitution C T downstream_gene_variant SKCA-BR 10 50192472 50192472 single base substitution G A downstream_gene_variant SKCA-BR 10 50192873 50192873 single base substitution G A downstream_gene_variant SKCA-BR 10 50192876 50192876 single base substitution C T downstream_gene_variant SKCA-BR 10 50193304 50193304 single base substitution C T downstream_gene_variant SKCA-BR 10 50193933 50193933 single base substitution G A downstream_gene_variant SKCA-BR 10 50193934 50193934 single base substitution G T downstream_gene_variant SKCA-BR 10 50194545 50194545 single base substitution G A downstream_gene_variant SKCM-US 10 50118286 50118286 single base substitution G A intron_variant SKCM-US 10 50121439 50121439 single base substitution C T intron_variant SKCM-US 10 50121447 50121447 single base substitution C T intron_variant SKCM-US 10 50121466 50121466 single base substitution G A intron_variant SKCM-US 10 50121483 50121483 single base substitution G A intron_variant SKCM-US 10 50121505 50121505 single base substitution C T intron_variant SKCM-US 10 50121550 50121550 single base substitution G A intron_variant SKCM-US 10 50121613 50121613 single base substitution C T intron_variant SKCM-US 10 50121641 50121641 single base substitution A T intron_variant SKCM-US 10 50121667 50121667 single base substitution G A intron_variant SKCM-US 10 50121724 50121724 single base substitution G A intron_variant SKCM-US 10 50121763 50121763 single base substitution G A intron_variant SKCM-US 10 50121768 50121768 single base substitution C T intron_variant SKCM-US 10 50121774 50121774 single base substitution G A intron_variant SKCM-US 10 50121815 50121815 single base substitution C T intron_variant SKCM-US 10 50121985 50121985 single base substitution G A intron_variant SKCM-US 10 50121997 50121997 single base substitution G A intron_variant SKCM-US 10 50122012 50122012 single base substitution C T intron_variant SKCM-US 10 50122129 50122129 single base substitution G A intron_variant SKCM-US 10 50122162 50122162 single base substitution G A intron_variant SKCM-US 10 50122172 50122172 single base substitution C T intron_variant STAD-US 10 50121975 50121975 single base substitution G A intron_variant STAD-US 10 50122031 50122031 single base substitution A C intron_variant STAD-US 10 50122058 50122058 single base substitution C T intron_variant THCA-SA 10 49933974 49933974 single base substitution T C missense_variant S214P 640T>C THCA-SA 10 49998780 49998780 single base substitution G A intron_variant THCA-SA 10 49998780 49998780 single base substitution G A missense_variant V1359I 4075G>A THCA-SA 10 49998824 49998824 single base substitution C T intron_variant THCA-SA 10 49998824 49998824 single base substitution C T synonymous_variant G1373G 4119C>T THCA-SA 10 50004372 50004372 single base substitution C T intron_variant THCA-SA 10 50004372 50004372 single base substitution C T synonymous_variant A1429A 4287C>T THCA-SA 10 50022040 50022040 single base substitution G A 3_prime_UTR_variant THCA-SA 10 50022040 50022040 single base substitution G A synonymous_variant R1751R 5253G>A THCA-SA 10 50022040 50022040 single base substitution G A synonymous_variant R297R 891G>A THCA-SA 10 50025446 50025446 single base substitution G T 3_prime_UTR_variant THCA-SA 10 50025446 50025446 single base substitution G T missense_variant A1833S 5497G>T THCA-SA 10 50025446 50025446 single base substitution G T missense_variant A379S 1135G>T THCA-SA 10 50025446 50025446 single base substitution G T upstream_gene_variant THCA-SA 10 50034833 50034833 single base substitution G A 3_prime_UTR_variant THCA-SA 10 50034833 50034833 single base substitution G A downstream_gene_variant THCA-SA 10 50034833 50034833 single base substitution G A missense_variant G120S 358G>A THCA-SA 10 50034833 50034833 single base substitution G A missense_variant G2034S 6100G>A THCA-SA 10 50122181 50122181 single base substitution C A intron_variant THCA-SA 10 50178308 50178308 single base substitution C T 3_prime_UTR_variant THCA-SA 10 50178308 50178308 single base substitution C T exon_variant THCA-SA 10 50178308 50178308 single base substitution C T missense_variant R1054C 3160C>T THCA-SA 10 50178308 50178308 single base substitution C T missense_variant R2968C 8902C>T THCA-SA 10 50183042 50183042 single base substitution G A 3_prime_UTR_variant THCA-SA 10 50183042 50183042 single base substitution G A exon_variant THCA-SA 10 50183042 50183042 single base substitution G A missense_variant A1108T 3322G>A THCA-SA 10 50183042 50183042 single base substitution G A missense_variant A3022T 9064G>A THCA-SA 10 50183042 50183042 single base substitution G A upstream_gene_variant UCEC-US 10 49917924 49917924 single base substitution G A synonymous_variant R49R 147G>A UCEC-US 10 49917925 49917925 single base substitution A G missense_variant K50E 148A>G UCEC-US 10 49931503 49931503 single base substitution C A missense_variant S161Y 482C>A UCEC-US 10 49931532 49931532 single base substitution C A missense_variant L171I 511C>A UCEC-US 10 49931606 49931606 single base substitution C T synonymous_variant F195F 585C>T UCEC-US 10 49933924 49933924 single base substitution A G splice_acceptor_variant UCEC-US 10 49935703 49935703 single base substitution C T missense_variant R324W 970C>T UCEC-US 10 49937632 49937632 single base substitution C A missense_variant S376Y 1127C>A UCEC-US 10 49939278 49939278 single base substitution G A missense_variant R418Q 1253G>A UCEC-US 10 49939396 49939396 single base substitution C T synonymous_variant F457F 1371C>T UCEC-US 10 49939514 49939514 single base substitution G C missense_variant D497H 1489G>C UCEC-US 10 49939578 49939578 single base substitution G A missense_variant R518Q 1553G>A UCEC-US 10 49942017 49942017 single base substitution G T stop_gained E542* 1624G>T UCEC-US 10 49944168 49944168 single base substitution G A intron_variant UCEC-US 10 49944168 49944168 single base substitution G A missense_variant R644Q 1931G>A UCEC-US 10 49968405 49968405 single base substitution G T missense_variant D825Y 2473G>T UCEC-US 10 49982685 49982685 single base substitution C T synonymous_variant L912L 2736C>T UCEC-US 10 49983783 49983783 single base substitution C A stop_gained S932* 2795C>A UCEC-US 10 49983788 49983788 single base substitution C A missense_variant L934M 2800C>A UCEC-US 10 49983821 49983822 deletion of <=200bp CA - frameshift_variant H945 UCEC-US 10 49994705 49994705 single base substitution C T intron_variant UCEC-US 10 49994705 49994705 single base substitution C T missense_variant P1200S 3598C>T UCEC-US 10 49996622 49996622 single base substitution G T intron_variant UCEC-US 10 49996622 49996622 single base substitution G T missense_variant V1286F 3856G>T UCEC-US 10 49998857 49998857 single base substitution A G intron_variant UCEC-US 10 49998857 49998857 single base substitution A G synonymous_variant L1384L 4152A>G UCEC-US 10 49998883 49998883 single base substitution C T intron_variant UCEC-US 10 49998883 49998883 single base substitution C T missense_variant A1393V 4178C>T UCEC-US 10 49998895 49998895 single base substitution T A intron_variant UCEC-US 10 49998895 49998895 single base substitution T A missense_variant V1397D 4190T>A UCEC-US 10 50004440 50004440 single base substitution G A intron_variant UCEC-US 10 50004440 50004440 single base substitution G A missense_variant R1452K 4355G>A UCEC-US 10 50011369 50011369 single base substitution C A intron_variant UCEC-US 10 50011369 50011369 single base substitution C A synonymous_variant L1483L 4449C>A UCEC-US 10 50011369 50011369 single base substitution C A synonymous_variant L29L 87C>A UCEC-US 10 50013401 50013401 single base substitution C T intron_variant UCEC-US 10 50013401 50013401 single base substitution C T synonymous_variant I1527I 4581C>T UCEC-US 10 50013401 50013401 single base substitution C T synonymous_variant I73I 219C>T UCEC-US 10 50014054 50014054 single base substitution G A intron_variant UCEC-US 10 50014054 50014054 single base substitution G A missense_variant G1551E 4652G>A UCEC-US 10 50014054 50014054 single base substitution G A missense_variant G97E 290G>A UCEC-US 10 50015956 50015956 single base substitution G A missense_variant D1028N 3082G>A UCEC-US 10 50015956 50015956 single base substitution G A synonymous_variant E143E 429G>A UCEC-US 10 50015956 50015956 single base substitution G A synonymous_variant E1597E 4791G>A UCEC-US 10 50015976 50015976 single base substitution C T missense_variant S150F 449C>T UCEC-US 10 50015976 50015976 single base substitution C T missense_variant S1604F 4811C>T UCEC-US 10 50015976 50015976 single base substitution C T synonymous_variant I1034I 3102C>T UCEC-US 10 50025297 50025297 single base substitution C T 3_prime_UTR_variant UCEC-US 10 50025297 50025297 single base substitution C T missense_variant A1783V 5348C>T UCEC-US 10 50025297 50025297 single base substitution C T missense_variant A329V 986C>T UCEC-US 10 50025297 50025297 single base substitution C T upstream_gene_variant UCEC-US 10 50025340 50025340 single base substitution C T 3_prime_UTR_variant UCEC-US 10 50025340 50025340 single base substitution C T synonymous_variant S1797S 5391C>T UCEC-US 10 50025340 50025340 single base substitution C T synonymous_variant S343S 1029C>T UCEC-US 10 50025340 50025340 single base substitution C T upstream_gene_variant UCEC-US 10 50025347 50025347 single base substitution C A 3_prime_UTR_variant UCEC-US 10 50025347 50025347 single base substitution C A missense_variant Q1800K 5398C>A UCEC-US 10 50025347 50025347 single base substitution C A missense_variant Q346K 1036C>A UCEC-US 10 50025347 50025347 single base substitution C A upstream_gene_variant UCEC-US 10 50025362 50025362 single base substitution G A 3_prime_UTR_variant UCEC-US 10 50025362 50025362 single base substitution G A missense_variant V1805I 5413G>A UCEC-US 10 50025362 50025362 single base substitution G A missense_variant V351I 1051G>A UCEC-US 10 50025362 50025362 single base substitution G A upstream_gene_variant UCEC-US 10 50028299 50028299 single base substitution C T 3_prime_UTR_variant UCEC-US 10 50028299 50028299 single base substitution C T synonymous_variant T1842T 5526C>T UCEC-US 10 50028299 50028299 single base substitution C T synonymous_variant T388T 1164C>T UCEC-US 10 50028299 50028299 single base substitution C T upstream_gene_variant UCEC-US 10 50028335 50028335 single base substitution C T 3_prime_UTR_variant UCEC-US 10 50028335 50028335 single base substitution C T synonymous_variant G1854G 5562C>T UCEC-US 10 50028335 50028335 single base substitution C T synonymous_variant G400G 1200C>T UCEC-US 10 50028335 50028335 single base substitution C T upstream_gene_variant UCEC-US 10 50028406 50028406 single base substitution C T 3_prime_UTR_variant UCEC-US 10 50028406 50028406 single base substitution C T missense_variant T1878M 5633C>T UCEC-US 10 50028406 50028406 single base substitution C T missense_variant T424M 1271C>T UCEC-US 10 50028406 50028406 single base substitution C T upstream_gene_variant UCEC-US 10 50034715 50034715 single base substitution G T downstream_gene_variant UCEC-US 10 50034715 50034715 single base substitution G T splice_acceptor_variant UCEC-US 10 50081658 50081658 single base substitution C T 3_prime_UTR_variant UCEC-US 10 50081658 50081658 single base substitution C T synonymous_variant L2288L 6864C>T UCEC-US 10 50081658 50081658 single base substitution C T synonymous_variant L374L 1122C>T UCEC-US 10 50085200 50085200 single base substitution C T 3_prime_UTR_variant UCEC-US 10 50085200 50085200 single base substitution C T missense_variant R2375W 7123C>T UCEC-US 10 50085200 50085200 single base substitution C T missense_variant R461W 1381C>T UCEC-US 10 50098640 50098640 single base substitution C G 3_prime_UTR_variant UCEC-US 10 50098640 50098640 single base substitution C G missense_variant S2395C 7184C>G UCEC-US 10 50098640 50098640 single base substitution C G missense_variant S481C 1442C>G UCEC-US 10 50121480 50121480 single base substitution T A intron_variant UCEC-US 10 50121505 50121505 single base substitution C T intron_variant UCEC-US 10 50121533 50121533 single base substitution C A intron_variant UCEC-US 10 50121577 50121577 single base substitution C T intron_variant UCEC-US 10 50121613 50121613 single base substitution C A intron_variant UCEC-US 10 50121647 50121647 single base substitution G A intron_variant UCEC-US 10 50121853 50121853 single base substitution C A intron_variant UCEC-US 10 50151419 50151419 single base substitution C T 3_prime_UTR_variant UCEC-US 10 50151419 50151419 single base substitution C T synonymous_variant T2558T 7674C>T UCEC-US 10 50151419 50151419 single base substitution C T synonymous_variant T644T 1932C>T UCEC-US 10 50151419 50151419 single base substitution C T upstream_gene_variant UCEC-US 10 50154114 50154114 single base substitution C A 3_prime_UTR_variant UCEC-US 10 50154114 50154114 single base substitution C A exon_variant UCEC-US 10 50154114 50154114 single base substitution C A missense_variant F2593L 7779C>A UCEC-US 10 50154114 50154114 single base substitution C A missense_variant F679L 2037C>A UCEC-US 10 50154164 50154164 single base substitution A C 3_prime_UTR_variant UCEC-US 10 50154164 50154164 single base substitution A C exon_variant UCEC-US 10 50154164 50154164 single base substitution A C missense_variant K2610T 7829A>C UCEC-US 10 50154164 50154164 single base substitution A C missense_variant K696T 2087A>C UCEC-US 10 50167780 50167780 single base substitution C T 3_prime_UTR_variant UCEC-US 10 50167780 50167780 single base substitution C T exon_variant UCEC-US 10 50167780 50167780 single base substitution C T synonymous_variant D2715D 8145C>T UCEC-US 10 50167780 50167780 single base substitution C T synonymous_variant D801D 2403C>T UCEC-US 10 50167796 50167796 single base substitution G T 3_prime_UTR_variant UCEC-US 10 50167796 50167796 single base substitution G T exon_variant UCEC-US 10 50167796 50167796 single base substitution G T missense_variant D2721Y 8161G>T UCEC-US 10 50167796 50167796 single base substitution G T missense_variant D807Y 2419G>T UCEC-US 10 50167812 50167812 single base substitution C A 3_prime_UTR_variant UCEC-US 10 50167812 50167812 single base substitution C A exon_variant UCEC-US 10 50167812 50167812 single base substitution C A missense_variant P2726H 8177C>A UCEC-US 10 50167812 50167812 single base substitution C A missense_variant P812H 2435C>A UCEC-US 10 50171962 50171962 single base substitution C G 3_prime_UTR_variant UCEC-US 10 50171962 50171962 single base substitution C G exon_variant UCEC-US 10 50171962 50171962 single base substitution C G missense_variant P2767A 8299C>G UCEC-US 10 50171962 50171962 single base substitution C G missense_variant P853A 2557C>G UCEC-US 10 50174608 50174608 single base substitution G A 3_prime_UTR_variant UCEC-US 10 50174608 50174608 single base substitution G A exon_variant UCEC-US 10 50174608 50174608 single base substitution G A missense_variant G2825E 8474G>A UCEC-US 10 50174608 50174608 single base substitution G A missense_variant G911E 2732G>A UCEC-US 10 50174608 50174608 single base substitution G A upstream_gene_variant UCEC-US 10 50177207 50177207 single base substitution G A 3_prime_UTR_variant UCEC-US 10 50177207 50177207 single base substitution G A exon_variant UCEC-US 10 50177207 50177207 single base substitution G A missense_variant V2895M 8683G>A UCEC-US 10 50177207 50177207 single base substitution G A missense_variant V981M 2941G>A UCEC-US 10 50177249 50177249 single base substitution T G 3_prime_UTR_variant UCEC-US 10 50177249 50177249 single base substitution T G exon_variant UCEC-US 10 50177249 50177249 single base substitution T G missense_variant F2909V 8725T>G UCEC-US 10 50177249 50177249 single base substitution T G missense_variant F995V 2983T>G UCEC-US 10 50178213 50178213 single base substitution G A 3_prime_UTR_variant UCEC-US 10 50178213 50178213 single base substitution G A exon_variant UCEC-US 10 50178213 50178213 single base substitution G A missense_variant R1022H 3065G>A UCEC-US 10 50178213 50178213 single base substitution G A missense_variant R2936H 8807G>A UCEC-US 10 50184866 50184866 single base substitution G A 3_prime_UTR_variant UCEC-US 10 50184866 50184866 single base substitution G A exon_variant UCEC-US 10 50184866 50184866 single base substitution G A missense_variant A1131T 3391G>A UCEC-US 10 50184866 50184866 single base substitution G A missense_variant A3045T 9133G>A UCEC-US 10 50184866 50184866 single base substitution G A upstream_gene_variant UCEC-US 10 50190553 50190553 single base substitution G T intron_variant UCEC-US 10 50190553 50190553 single base substitution G T splice_acceptor_variant UCEC-US 10 50190623 50190623 single base substitution A C 3_prime_UTR_variant UCEC-US 10 50190623 50190623 single base substitution A C exon_variant UCEC-US 10 50190623 50190623 single base substitution A C intron_variant

Mutation - COSMIC Sample Name Mutation ID Mutation CDS Mutation AA Mutation Description Mutation Genome Position Mutation Strand 587228 COSM1232525 c.2756C>T p.P919L Substitution - Missense 10:48774660-48774660 + CSCC-16-T COSM4568741 c.1298T>G p.F433C Substitution - Missense 10:48731278-48731278 + ESCC_114 COSM5639637 c.6295G>A p.E2099K Substitution - Missense 10:48828851-48828851 + Au2 COSM5600849 c.1890G>A p.R630R Substitution - coding silent 10:48742979-48742979 + BD45T COSM5501807 c.839C>T p.P280L Substitution - Missense 10:48727527-48727527 + TCGA-B5-A0JY-01 COSM918507 c.1624G>T p.E542* Substitution - Nonsense 10:48733972-48733972 + sysucc-1878T COSM1348013 c.6886C>T p.R2296* Substitution - Nonsense 10:48873635-48873635 + BK0058 COSM4188280 c.6814G>A p.G2272S Substitution - Missense 10:48873563-48873563 + RW7213 COSM4649829 c.6156C>T p.T2052T Substitution - coding silent 10:48826844-48826844 + YULONE COSM5370727 c.4437G>A p.L1479L Substitution - coding silent 10:48803312-48803312 + CHC1763T COSM4789729 c.7156G>A p.D2386N Substitution - Missense 10:48877188-48877188 + TCGA-EI-6508-01 COSM1560766 c.1402C>T p.R468* Substitution - Nonsense 10:48731382-48731382 + S01861 COSM5670951 c.1080C>A p.S360R Substitution - Missense 10:48729540-48729540 + 115T COSM1725361 c.1413G>T p.Q471H Substitution - Missense 10:48731393-48731393 + OSCC-GB_00050111 COSM3709857 c.506C>A p.T169N Substitution - Missense 10:48975025-48975025 + C086 COSM5507302 c.994G>A p.E332K Substitution - Missense 10:48729454-48729454 + DLD1 COSM2144973 c.235G>C p.V79L Substitution - Missense 10:48970182-48970182 + TCGA-EK-A3GM-01 COSM4535195 c.2165G>A p.G722E Substitution - Missense 10:48743254-48743254 + S00832 COSM5660748 c.43G>C p.D15H Substitution - Missense 10:48709775-48709775 + LP6007591 COSM5032682 c.745C>T p.R249W Substitution - Missense 10:48978348-48978348 + HCC078T COSM5806351 c.6815G>T p.G2272V Substitution - Missense 10:48873564-48873564 + CSCC-7-T COSM4551540 c.5314G>A p.E1772K Substitution - Missense 10:48814056-48814056 + YURAY COSM5370721 c.2514G>A p.V838V Substitution - coding silent 10:48760401-48760401 + BD154T COSM5494545 c.7280C>T p.T2427M Substitution - Missense 10:48890691-48890691 + sysucc-1240T COSM5766089 c.4685C>T p.S1562L Substitution - Missense 10:48806042-48806042 + S02299 COSM5689973 c.3796G>T p.V1266L Substitution - Missense 10:48786858-48786858 + TCGA-AZ-4315-01 COSM1348009 c.6310A>T p.K2104* Substitution - Nonsense 10:48828866-48828866 + YURAY COSM5370734 c.7685G>A p.R2562K Substitution - Missense 10:48943385-48943385 + TCGA-BG-A18A-01 COSM918531 c.5562C>T p.G1854G Substitution - coding silent 10:48820290-48820290 + HCT15 COSM2144761 c.4086C>A p.S1362S Substitution - coding silent 10:48790746-48790746 + ccRCC-18 COSM1659175 c.4108G>A p.D1370N Substitution - Missense 10:48790768-48790768 + HCC161T COSM3665751 c.4619G>A p.G1540D Substitution - Missense 10:48805394-48805394 + PTC-7C COSM4144723 c.3181A>G p.T1061A Substitution - Missense 10:48778616-48778616 + ESOSCC157T COSM1171692 c.9323T>C p.V3108A Substitution - Missense 10:48978340-48978340 + TCGA-D1-A17F-01 COSM918515 c.4113C>T p.F1371F Substitution - coding silent 10:48790773-48790773 + PT36 COSM5915997 c.6821G>A p.W2274* Substitution - Nonsense 10:48873570-48873570 + SC_9109 COSM5552358 c.1740C>T p.D580D Substitution - coding silent 10:48735932-48735932 + Region-17 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + Region-4 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + TCGA-BS-A0UV-01 COSM918496 c.147G>A p.R49R Substitution - coding silent 10:48709879-48709879 + YUOMEGA COSM5370740 c.485G>A p.R162Q Substitution - Missense 10:48975004-48975004 + 2492714 COSM5607206 c.6832G>A p.E2278K Substitution - Missense 10:48873581-48873581 + 8029770 COSM918532 c.5633C>T p.T1878M Substitution - Missense 10:48820361-48820361 + Au1 COSM4523730 c.1230G>A p.R410R Substitution - coding silent 10:48731210-48731210 + TCGA-AY-6196-01 COSM1348021 c.7710C>T p.Y2570Y Substitution - coding silent 10:48943410-48943410 + HCC69T COSM1603484 c.1977C>G p.G659G Substitution - coding silent 10:48743066-48743066 + C086 COSM231205 c.970C>T p.R324W Substitution - Missense 10:48727658-48727658 + TCGA-EI-6507-01 COSM1560767 c.1293G>A p.S431S Substitution - coding silent 10:48731273-48731273 + CSCC-55-T COSM4566528 c.4034_4035GG>AA p.R1345Q Substitution - Missense 10:48789953-48789954 + CACO2 COSM4620578 c.334C>T p.L112F Substitution - Missense 10:48970281-48970281 + T22 COSM1716391 c.4333delG p.G1445fs*29 Deletion - Frameshift 10:48796373-48796373 + DLD1 COSM2144632 c.730C>A p.L244I Substitution - Missense 10:48726019-48726019 + Au1 COSM5597885 c.9165G>A p.Q3055Q Substitution - coding silent 10:48976853-48976853 + PDA_014 COSM4998703 c.4567A>G p.I1523V Substitution - Missense 10:48805342-48805342 + YUGURT COSM5370719 c.2350C>T p.L784L Substitution - coding silent 10:48743439-48743439 + S02354 COSM5695505 c.1916C>A p.A639D Substitution - Missense 10:48743005-48743005 + TCGA-D1-A17Q-01 COSM918565 c.8725T>G p.F2909V Substitution - Missense 10:48969204-48969204 + TCGA-BS-A0UF-01 COSM918554 c.7779C>A p.F2593L Substitution - Missense 10:48946069-48946069 + OSCC-GB_00050111 COSM3709856 c.9092C>A p.T3031N Substitution - Missense 10:48975025-48975025 + TCGA-UB-A7MB-01 COSM4932716 c.7894T>A p.Y2632N Substitution - Missense 10:48946886-48946886 + 587284 COSM1232528 c.3856G>A p.V1286I Substitution - Missense 10:48788577-48788577 + C086 COSM5541692 c.1422C>T p.I474I Substitution - coding silent 10:48731402-48731402 + ME044T COSM229152 c.7228C>T p.L2410F Substitution - Missense 10:48890639-48890639 + Region-25 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + SS6003149 COSM4091193 c.4073G>A p.R1358K Substitution - Missense 10:48790733-48790733 + CSCC-31-T COSM4456430 c.1009C>T p.L337L Substitution - coding silent 10:48729469-48729469 + C004 COSM5521973 c.6870G>A p.W2290* Substitution - Nonsense 10:48873619-48873619 + 2492722 COSM5721502 c.716C>T p.T239I Substitution - Missense 10:48978319-48978319 + T14 COSM5617870 c.7868G>A p.G2623E Substitution - Missense 10:48946860-48946860 + TCGA-CA-5796-01 COSM1348036 c.703C>A p.R235R Substitution - coding silent 10:48976977-48976977 + LS174T COSM2144763 c.4154C>T p.A1385V Substitution - Missense 10:48790814-48790814 + STC291 COSM5050198 c.4267T>C p.F1423L Substitution - Missense 10:48796307-48796307 + YULAD COSM5370737 c.7953C>T p.F2651F Substitution - coding silent 10:48946945-48946945 + CHOL07 COSM1744737 c.8163C>T p.D2721D Substitution - coding silent 10:48959753-48959753 + LUAD-S01302 COSM395419 c.9215G>T p.C3072F Substitution - Missense 10:48976903-48976903 + C086 COSM5541687 c.8147G>A p.G2716E Substitution - Missense 10:48959737-48959737 + AOCS-076-1-3 COSM4138011 c.219C>G p.L73L Substitution - coding silent 10:48709951-48709951 + TCGA-AM-5821-01 COSM3686764 c.5146G>A p.E1716K Substitution - Missense 10:48811640-48811640 + 1N62-VS-1T62 COSM4977830 c.1134G>A p.V378V Substitution - coding silent 10:48731114-48731114 + ACINAR06 COSM1734755 c.461C>T p.T154M Substitution - Missense 10:48723437-48723437 + CSCC-20-T COSM4453921 c.3711A>C p.T1237T Substitution - coding silent 10:48786773-48786773 + CSCC-31-T COSM4546903 c.40G>A p.E14K Substitution - Missense 10:48709772-48709772 + 2334188 COSM324283 c.271A>T p.S91C Substitution - Missense 10:48720047-48720047 + TCGA-D1-A103-01 COSM918514 c.3856G>T p.V1286F Substitution - Missense 10:48788577-48788577 + CHC892T COSM4793947 c.4025G>A p.G1342E Substitution - Missense 10:48789944-48789944 + ICGC_0049 COSM218273 c.3025C>T p.R1009C Substitution - Missense 10:48776911-48776911 + Region-6 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + TCGA-BG-A0VW-01 COSM918526 c.5348C>T p.A1783V Substitution - Missense 10:48817252-48817252 + HCT116 COSM2144775 c.4559C>T p.P1520L Substitution - Missense 10:48805334-48805334 + CHC892T COSM4961122 c.8625G>A p.G2875G Substitution - coding silent 10:48969104-48969104 + PD11816a COSM5783396 c.4131C>T p.I1377I Substitution - coding silent 10:48790791-48790791 + 2492730 COSM5728606 c.7979G>A p.G2660D Substitution - Missense 10:48957130-48957130 + TCGA-B5-A11E-01 COSM918502 c.1127C>A p.S376Y Substitution - Missense 10:48729587-48729587 + PT37 COSM5602602 c.7990G>A p.D2664N Substitution - Missense 10:48957141-48957141 + 587376 COSM1232535 c.3050C>T p.A1017V Substitution - Missense 10:48776936-48776936 + CSCC-29-T COSM4507387 c.744C>T p.S248S Substitution - coding silent 10:48726033-48726033 + 2492722 COSM5721500 c.8511G>A p.V2837V Substitution - coding silent 10:48966600-48966600 + PT45 COSM5927619 c.8564C>T p.P2855L Substitution - Missense 10:48966653-48966653 + SJMB137 COSM255279 c.347C>A p.A116E Substitution - Missense 10:48720123-48720123 + 2492720 COSM5721501 c.9302C>T p.T3101I Substitution - Missense 10:48978319-48978319 + P37 COSM1736235 c.3622C>A p.P1208T Substitution - Missense 10:48786684-48786684 + HCC2998 COSM2144780 c.4811C>A p.S1604Y Substitution - Missense 10:48807931-48807931 + 2492721 COSM5370715 c.2018C>T p.S673F Substitution - Missense 10:48743107-48743107 + 1953_T COSM3978561 c.7798A>G p.M2600V Substitution - Missense 10:48946088-48946088 + ESCC_24 COSM5543608 c.2623C>T p.Q875* Substitution - Nonsense 10:48774527-48774527 + pfg220T COSM4754893 c.1705G>A p.G569S Substitution - Missense 10:48735897-48735897 + TCGA-F5-6465-01 COSM1560765 c.2494G>A p.G832R Substitution - Missense 10:48760381-48760381 + RK164_C01 COSM3741676 c.8817C>T p.C2939C Substitution - coding silent 10:48970178-48970178 + TCGA-G3-A5SI-01 COSM4918073 c.7450G>T p.E2484* Substitution - Nonsense 10:48900233-48900233 + YUROG COSM5370713 c.1902C>T p.T634T Substitution - coding silent 10:48742991-48742991 + 49M COSM4535296 c.2176G>A p.E726K Substitution - Missense 10:48743265-48743265 + SJMB012 COSM110960 c.6631C>T p.R2211W Substitution - Missense 10:48832677-48832677 + TCGA-BS-A0UF-01 COSM918521 c.4449C>A p.L1483L Substitution - coding silent 10:48803324-48803324 + TCGA-IR-A3LH-01 COSM4832462 c.1227C>T p.I409I Substitution - coding silent 10:48731207-48731207 + PTC-7C COSM4144722 c.3180C>A p.A1060A Substitution - coding silent 10:48778615-48778615 + TCGA-Q1-A73Q-01 COSM4851017 c.6220A>T p.S2074C Substitution - Missense 10:48826908-48826908 + 2492723 COSM5721502 c.716C>T p.T239I Substitution - Missense 10:48978319-48978319 + BD6T COSM5499069 c.1116T>C p.H372H Substitution - coding silent 10:48729576-48729576 + TCGA-FV-A2QQ-01 COSM4910706 c.7745C>A p.S2582* Substitution - Nonsense 10:48943445-48943445 + ESCC-128T COSM3935069 c.5514G>A p.G1838G Substitution - coding silent 10:48820242-48820242 + ASHPC_0006_Pa_P COSM3786687 c.2910C>A p.A970A Substitution - coding silent 10:48776796-48776796 + 460 COSM4436473 c.6198C>T p.C2066C Substitution - coding silent 10:48826886-48826886 + RK006_C01 COSM1627515 c.7882C>A p.Q2628K Substitution - Missense 10:48946874-48946874 + 8033414 COSM3382882 c.65G>A p.G22E Substitution - Missense 10:48709797-48709797 + pfg105T COSM4754910 c.5214A>C p.K1738N Substitution - Missense 10:48811708-48811708 + PT33 COSM5909061 c.6010G>A p.D2004N Substitution - Missense 10:48826698-48826698 + HCC018T COSM5820153 c.5149G>A p.V1717I Substitution - Missense 10:48811643-48811643 + SNUH_G76_S1 COSM1348002 c.4119C>T p.G1373G Substitution - coding silent 10:48790779-48790779 + G5 COSM1191771 c.5305C>T p.L1769F Substitution - Missense 10:48814047-48814047 + ME049T COSM230196 c.8627C>T p.A2876V Substitution - Missense 10:48969106-48969106 + ZZUFHECRKL-G047T COSM4754929 c.7301G>A p.R2434H Substitution - Missense 10:48890712-48890712 + S02299 COSM5689974 c.4392C>T p.H1464H Substitution - coding silent 10:48796432-48796432 + HCT8 COSM2144972 c.8821G>C p.V2941L Substitution - Missense 10:48970182-48970182 + CSCC-16-T COSM4477610 c.2169C>T p.A723A Substitution - coding silent 10:48743258-48743258 + TCGA-BS-A0UA-01 COSM918532 c.5633C>T p.T1878M Substitution - Missense 10:48820361-48820361 + S02279 COSM5683490 c.2322C>A p.A774A Substitution - coding silent 10:48743411-48743411 + SS6003317 COSM4091190 c.1408G>A p.V470I Substitution - Missense 10:48731388-48731388 + pfg008T COSM4754924 c.6995A>C p.N2332T Substitution - Missense 10:48875135-48875135 + TCGA-A6-5659-01 COSM3751828 c.767C>T p.P256L Substitution - Missense 10:48978370-48978370 + SC_9036 COSM5568094 c.993C>T p.S331S Substitution - coding silent 10:48729453-48729453 + MO_1232 COSM5559997 c.2267T>A p.L756H Substitution - Missense 10:48743356-48743356 + 91 COSM3724160 c.6477C>T p.V2159V Substitution - coding silent 10:48830836-48830836 + CSCC-7-T COSM4566891 c.5031_5032GG>AA p.D1678N Substitution - Missense 10:48810722-48810723 + TCGA-BC-A69H-01 COSM4919036 c.5250G>A p.Q1750Q Substitution - coding silent 10:48813992-48813992 + 2492729 COSM5729693 c.8584+1G>A p.? Unknown 10:48966674-48966674 + Region-12 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + UMC11 COSM2144620 c.674C>G p.T225R Substitution - Missense 10:48725963-48725963 + TCGA-BC-A10T-01 COSM4922916 c.5612G>A p.R1871Q Substitution - Missense 10:48820340-48820340 + TCGA-AA-3713-01 COSM1347998 c.3553G>T p.G1185* Substitution - Nonsense 10:48780096-48780096 + sysucc-1397T COSM5473019 c.4999G>T p.G1667* Substitution - Nonsense 10:48810690-48810690 + PTC-7C COSM146932 c.6100G>A p.G2034S Substitution - Missense 10:48826788-48826788 + 35M COSM5583041 c.3329C>T p.S1110F Substitution - Missense 10:48778764-48778764 + AOCS-135-8-X COSM4138024 c.936G>T p.R312S Substitution - Missense 10:48982542-48982542 + 2492700 COSM5541682 c.2402G>A p.G801E Substitution - Missense 10:48743491-48743491 + 2492722 COSM5370715 c.2018C>T p.S673F Substitution - Missense 10:48743107-48743107 + 169 COSM3724161 c.2145C>G p.L715L Substitution - coding silent 10:48743234-48743234 + SW1417 COSM2144951 c.8078C>T p.P2693L Substitution - Missense 10:48957229-48957229 + LP6005935-DNA_A03 COSM5032564 c.8199G>A p.R2733R Substitution - coding silent 10:48959789-48959789 + sysucc-1072T COSM5482839 c.2895G>T p.G965G Substitution - coding silent 10:48776781-48776781 + YUKAT COSM5370735 c.7722C>T p.P2574P Substitution - coding silent 10:48943422-48943422 + TCGA-BS-A0UF-01 COSM918522 c.4581C>T p.I1527I Substitution - coding silent 10:48805356-48805356 + CN-AML-CR-32-Dx COSM3751827 c.630C>T p.C210C Substitution - coding silent 10:48976904-48976904 + DN14043 COSM5558896 c.6097C>G p.L2033V Substitution - Missense 10:48826785-48826785 + HCC058T COSM5805333 c.6141T>A p.D2047E Substitution - Missense 10:48826829-48826829 + 2492723 COSM5370715 c.2018C>T p.S673F Substitution - Missense 10:48743107-48743107 + YUOMEGA COSM5370739 c.9071G>A p.R3024Q Substitution - Missense 10:48975004-48975004 + pfg073T COSM4754901 c.2288G>T p.C763F Substitution - Missense 10:48743377-48743377 + CPCG0184-P3 COSM146932 c.6100G>A p.G2034S Substitution - Missense 10:48826788-48826788 + PR-1783 COSM220055 c.3565G>T p.G1189C Substitution - Missense 10:48780108-48780108 + 8014789 COSM218273 c.3025C>T p.R1009C Substitution - Missense 10:48776911-48776911 + 587376 COSM1232544 c.8447A>C p.K2816T Substitution - Missense 10:48966536-48966536 + pfg008T COSM1734760 c.6632G>A p.R2211Q Substitution - Missense 10:48832678-48832678 + CHC892T COSM4961122 c.8625G>A p.G2875G Substitution - coding silent 10:48969104-48969104 + TCGA-A6-5659-01 COSM918538 c.7123C>T p.R2375W Substitution - Missense 10:48877155-48877155 + TCGA-CK-5916-01 COSM3751823 c.258T>C p.I86I Substitution - coding silent 10:48970205-48970205 + PDA_050 COSM5000683 c.7573A>C p.T2525P Substitution - Missense 10:48901850-48901850 + T21 COSM5341252 c.6225C>T p.Y2075Y Substitution - coding silent 10:48828781-48828781 + TCGA-AN-A046-01 COSM3807251 c.4462T>G p.L1488V Substitution - Missense 10:48803337-48803337 + 2492713 COSM5607206 c.6832G>A p.E2278K Substitution - Missense 10:48873581-48873581 + CRC-02T COSM5453730 c.1407G>T p.K469N Substitution - Missense 10:48731387-48731387 + TCGA-AN-A046-01 COSM3807261 c.7359G>A p.R2453R Substitution - coding silent 10:48897496-48897496 + SC_9084 COSM5560024 c.2338T>A p.L780M Substitution - Missense 10:48743427-48743427 + TCGA-CM-5868-01 COSM1348027 c.8850C>A p.T2950T Substitution - coding silent 10:48970211-48970211 + SC_9010 COSM5548581 c.4045G>C p.A1349P Substitution - Missense 10:48789964-48789964 + 2492703 COSM5541682 c.2402G>A p.G801E Substitution - Missense 10:48743491-48743491 + CSCC-49-T COSM4544180 c.3514G>A p.E1172K Substitution - Missense 10:48780057-48780057 + SNUH_G10_S1 COSM3751815 c.4075G>A p.V1359I Substitution - Missense 10:48790735-48790735 + CPCG0073-F1 COSM4880418 c.7596C>T p.P2532P Substitution - coding silent 10:48941815-48941815 + 2492703 COSM5600851 c.7941G>A p.R2647R Substitution - coding silent 10:48946933-48946933 + CRC-02T COSM5453737 c.571A>G p.N191D Substitution - Missense 10:48976845-48976845 + BN32 COSM1603487 c.5982+4A>G p.? Unknown 10:48822541-48822541 + CSCC-29-T COSM4558178 c.7587G>A p.R2529R Substitution - coding silent 10:48941806-48941806 + OSCC-GB_01210111 COSM5954875 c.8970G>A p.A2990A Substitution - coding silent 10:48974903-48974903 + RK100_C01 COSM1627514 c.2769-7T>A p.? Unknown 10:48775705-48775705 + TCGA-A2-A0T5-01 COSM3807246 c.1031T>G p.V344G Substitution - Missense 10:48729491-48729491 + TCGA-CW-5589-01 COSM465690 c.7523+2T>A p.? Unknown 10:48900308-48900308 + YULETA COSM2144807 c.5489C>T p.P1830L Substitution - Missense 10:48817393-48817393 + PD11364a COSM5796224 c.232G>A p.A78T Substitution - Missense 10:48970179-48970179 + CSCC-27-T COSM918496 c.147G>A p.R49R Substitution - coding silent 10:48709879-48709879 + TCGA-B5-A0JY-01 COSM918504 c.1371C>T p.F457F Substitution - coding silent 10:48731351-48731351 + T84 COSM2144987 c.545G>T p.G182V Substitution - Missense 10:48976819-48976819 + 0126_CRUK_PC_0126_T1_DNA COSM5421373 c.1512C>A p.F504L Substitution - Missense 10:48731492-48731492 + RK019_C COSM1627512 c.917T>C p.F306S Substitution - Missense 10:48727605-48727605 + LIM2551 COSM4643462 c.726C>T p.C242C Substitution - coding silent 10:48726015-48726015 + DLD1 COSM2144954 c.8307A>G p.A2769A Substitution - coding silent 10:48963925-48963925 + Sample_1 COSM5021663 c.1995G>C p.P665P Substitution - coding silent 10:48743084-48743084 + TCGA-CA-5796-01 COSM1348035 c.9289C>A p.R3097R Substitution - coding silent 10:48976977-48976977 + TCGA-B5-A11E-01 COSM918517 c.4178C>T p.A1393V Substitution - Missense 10:48790838-48790838 + HCC67T COSM3665754 c.8132-10T>C p.? Unknown 10:48959712-48959712 + ESCC_BICR_023T COSM5436279 c.4767C>G p.I1589M Substitution - Missense 10:48807887-48807887 + HT55 COSM2144866 c.6850T>A p.S2284T Substitution - Missense 10:48873599-48873599 + LUAD-FH5PJ COSM394382 c.343-1G>T p.? Unknown 10:48974861-48974861 + HCT8 COSM4633173 c.3839T>C p.F1280S Substitution - Missense 10:48788560-48788560 + TCGA-AR-A0TX-01 COSM3807255 c.5839C>A p.Q1947K Substitution - Missense 10:48822394-48822394 + 587376 COSM1232536 c.3349G>A p.D1117N Substitution - Missense 10:48778784-48778784 + 587376 COSM1232540 c.4485G>T p.R1495S Substitution - Missense 10:48805260-48805260 + BD144T COSM5507302 c.994G>A p.E332K Substitution - Missense 10:48729454-48729454 + PD17973a COSM5541686 c.8198G>A p.R2733Q Substitution - Missense 10:48959788-48959788 + TCGA-BS-A0TC-01 COSM918557 c.8145C>T p.D2715D Substitution - coding silent 10:48959735-48959735 + ATL072 COSM5703623 c.8476A>T p.K2826* Substitution - Nonsense 10:48966565-48966565 + TCGA-BS-A0UV-01 COSM918519 c.4190T>A p.V1397D Substitution - Missense 10:48790850-48790850 + AOCS-139-19-0 COSM4138019 c.6141T>G p.D2047E Substitution - Missense 10:48826829-48826829 + ESCC_BICR_063T COSM5436895 c.824G>C p.R275P Substitution - Missense 10:48981400-48981400 + TCGA-BH-A2L8-01 COSM3807264 c.8325C>A p.I2775I Substitution - coding silent 10:48963943-48963943 + CPCG0184-P1 COSM146932 c.6100G>A p.G2034S Substitution - Missense 10:48826788-48826788 + CRC-02T COSM5453733 c.2032C>A p.L678M Substitution - Missense 10:48743121-48743121 + 587376 COSM1232532 c.493G>A p.A165T Substitution - Missense 10:48723469-48723469 + CSCC-29-T COSM4541518 c.3015G>A p.M1005I Substitution - Missense 10:48776901-48776901 + WA17 COSM242240 c.8592C>A p.Y2864* Substitution - Nonsense 10:48969071-48969071 + B110-Tumor COSM3931062 c.2871G>A p.Q957Q Substitution - coding silent 10:48776757-48776757 + TCGA-DW-7963-01 COSM3985628 c.2791C>T p.P931S Substitution - Missense 10:48775734-48775734 + ESCC_163 COSM5647987 c.6824G>T p.S2275I Substitution - Missense 10:48873573-48873573 + TCGA-CK-5916-01 COSM3751822 c.8844T>C p.I2948I Substitution - coding silent 10:48970205-48970205 + TCGA-IR-A3LA-01 COSM4844559 c.1784C>T p.S595L Substitution - Missense 10:48735976-48735976 + ME002T COSM222177 c.7039G>A p.E2347K Substitution - Missense 10:48877071-48877071 + 40M COSM3686764 c.5146G>A p.E1716K Substitution - Missense 10:48811640-48811640 + 8015858 COSM3382879 c.38A>T p.N13I Substitution - Missense 10:48709770-48709770 + TCGA-CC-A123-01 COSM4915290 c.2700C>T p.P900P Substitution - coding silent 10:48774604-48774604 + CHC801T COSM4953354 c.8131G>A p.G2711S Substitution - Missense 10:48957282-48957282 + 14T COSM3709853 c.3749A>T p.E1250V Substitution - Missense 10:48786811-48786811 + ACA47 COSM5961727 c.351T>C p.Y117Y Substitution - coding silent 10:48974870-48974870 + 49M COSM5593958 c.1399C>T p.L467L Substitution - coding silent 10:48731379-48731379 + TCGA-D1-A16N-01 COSM918505 c.1489G>C p.D497H Substitution - Missense 10:48731469-48731469 + HCT8 COSM2144632 c.730C>A p.L244I Substitution - Missense 10:48726019-48726019 + TCGA-D5-6922-01 COSM1348032 c.315C>T p.G105G Substitution - coding silent 10:48970262-48970262 + HCC2998 COSM2144821 c.5883C>A p.I1961I Substitution - coding silent 10:48822438-48822438 + C086 COSM5541688 c.6232G>A p.G2078R Substitution - Missense 10:48828788-48828788 + PD14465a COSM5787002 c.2355G>T p.K785N Substitution - Missense 10:48743444-48743444 + TCGA-ES-A2HS-01 COSM4910360 c.1397T>C p.I466T Substitution - Missense 10:48731377-48731377 + YUROG COSM5370715 c.2018C>T p.S673F Substitution - Missense 10:48743107-48743107 + YUROC COSM5370717 c.2024G>A p.R675K Substitution - Missense 10:48743113-48743113 + SNUH_G10_S1 COSM146932 c.6100G>A p.G2034S Substitution - Missense 10:48826788-48826788 + ESCC_36 COSM5628737 c.7366G>A p.D2456N Substitution - Missense 10:48897503-48897503 + C086 COSM5541682 c.2402G>A p.G801E Substitution - Missense 10:48743491-48743491 + Region-11 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + TCGA-AG-4022-01 COSM2144780 c.4811C>A p.S1604Y Substitution - Missense 10:48807931-48807931 + ZZUFHECRKL-G060T COSM3751828 c.767C>T p.P256L Substitution - Missense 10:48978370-48978370 + CSCC-11-T COSM4557698 c.7391G>A p.S2464N Substitution - Missense 10:48897528-48897528 + PCSI_0083_Pa_P_526 COSM3786690 c.317G>A p.R106H Substitution - Missense 10:48970264-48970264 + CTS45 COSM5044957 c.9128C>A p.A3043E Substitution - Missense 10:48976816-48976816 + 174 COSM146099 c.1198G>A p.V400I Substitution - Missense 10:48731178-48731178 + 8033414 COSM3382888 c.592-3C>A p.? Unknown 10:48725878-48725878 + LP6005409-DNA_F03 COSM231205 c.970C>T p.R324W Substitution - Missense 10:48727658-48727658 + Region-26 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + Region-15 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + PD4203a COSM165555 c.8036C>T p.S2679L Substitution - Missense 10:48957187-48957187 + 8058333 COSM3382900 c.8784C>T p.F2928F Substitution - coding silent 10:48970145-48970145 + CSCC-11-T COSM4502598 c.6177C>T p.F2059F Substitution - coding silent 10:48826865-48826865 + ATL074 COSM5703615 c.454T>A p.S152T Substitution - Missense 10:48721365-48721365 + HCT15 COSM2144632 c.730C>A p.L244I Substitution - Missense 10:48726019-48726019 + CSCC-7-T COSM4560915 c.8624G>A p.G2875E Substitution - Missense 10:48969103-48969103 + TCGA-D1-A169-01 COSM918518 c.4182T>A p.A1394A Substitution - coding silent 10:48790842-48790842 + 2521243 COSM2144768 c.4304G>A p.R1435Q Substitution - Missense 10:48796344-48796344 + Region-27 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + CSCC-19-T COSM4498541 c.5220C>T p.S1740S Substitution - coding silent 10:48813962-48813962 + RK019_C01 COSM1627512 c.917T>C p.F306S Substitution - Missense 10:48727605-48727605 + TCGA-B0-4811-01 COSM465689 c.6090C>T p.S2030S Substitution - coding silent 10:48826778-48826778 + AOCS-134-3-9 COSM4138020 c.6781G>C p.A2261P Substitution - Missense 10:48873530-48873530 + RK154_C01 COSM3741675 c.3183C>T p.T1061T Substitution - coding silent 10:48778618-48778618 + LUAD-E01317 COSM403621 c.3267G>T p.P1089P Substitution - coding silent 10:48778702-48778702 + HCC138T COSM5819141 c.6779G>T p.W2260L Substitution - Missense 10:48873528-48873528 + 44 COSM5734156 c.4563C>A p.S1521R Substitution - Missense 10:48805338-48805338 + EOPC-058_tumor_01 COSM5950738 c.5607C>T p.P1869P Substitution - coding silent 10:48820335-48820335 + SNU-175 COSM2144891 c.7203C>T p.G2401G Substitution - coding silent 10:48890614-48890614 + CSCC-45-T COSM4496349 c.4731C>T p.S1577S Substitution - coding silent 10:48806088-48806088 + TCGA-AA-3510-01 COSM1347996 c.3247G>A p.A1083T Substitution - Missense 10:48778682-48778682 + 41T COSM3709854 c.7910C>T p.S2637L Substitution - Missense 10:48946902-48946902 + Br14X COSM110960 c.6631C>T p.R2211W Substitution - Missense 10:48832677-48832677 + CSCC-30-T COSM4535647 c.2214G>A p.K738K Substitution - coding silent 10:48743303-48743303 + Region-14 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + 587398 COSM1232527 c.3271C>T p.R1091C Substitution - Missense 10:48778706-48778706 + Region-19 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + CSCC-42-T COSM2144701 c.2259C>T p.S753S Substitution - coding silent 10:48743348-48743348 + Gp2D COSM2144998 c.928G>A p.D310N Substitution - Missense 10:48982534-48982534 + TCGA-AP-A0LM-01 COSM918508 c.2473G>T p.D825Y Substitution - Missense 10:48760360-48760360 + HCT8 COSM2144973 c.235G>C p.V79L Substitution - Missense 10:48970182-48970182 + TCGA-AM-5821-01 COSM3751826 c.9216C>T p.C3072C Substitution - coding silent 10:48976904-48976904 + PT36 COSM5915996 c.5779G>A p.E1927K Substitution - Missense 10:48821131-48821131 + TCGA-BK-A0CB-01 COSM918499 c.511C>A p.L171I Substitution - Missense 10:48723487-48723487 + SNU-175 COSM2144590 c.194G>A p.R65H Substitution - Missense 10:48709926-48709926 + LUAD-FH5PJ COSM394381 c.8929-1G>T p.? Unknown 10:48974861-48974861 + CHC892T COSM2144739 c.3170G>T p.G1057V Substitution - Missense 10:48777490-48777490 + TCGA-AM-5821-01 COSM3751828 c.767C>T p.P256L Substitution - Missense 10:48978370-48978370 + 4132_T COSM3978558 c.5045-6C>T p.? Unknown 10:48811533-48811533 + YURAY COSM5370704 c.1023T>C p.L341L Substitution - coding silent 10:48729483-48729483 + 1323-01-02TD COSM5417918 c.5608G>T p.A1870S Substitution - Missense 10:48820336-48820336 + CSCC-49-T COSM4510316 c.8333C>T p.P2778L Substitution - Missense 10:48963951-48963951 + PT49 COSM5935654 c.7550A>G p.K2517R Substitution - Missense 10:48901827-48901827 + CSCC-10-T COSM4499892 c.5527C>A p.R1843R Substitution - coding silent 10:48820255-48820255 + pfg008T COSM4754946 c.8326T>G p.F2776V Substitution - Missense 10:48963944-48963944 + TCGA-AM-5821-01 COSM1560763 c.5447G>A p.R1816Q Substitution - Missense 10:48817351-48817351 + TCGA-CM-6171-01 COSM1348024 c.7993G>A p.V2665M Substitution - Missense 10:48957144-48957144 + Bulk-T COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + Region-29 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + Gp5D COSM2144901 c.7373A>G p.Y2458C Substitution - Missense 10:48897510-48897510 + 2492711 COSM5607206 c.6832G>A p.E2278K Substitution - Missense 10:48873581-48873581 + CSCC-49-T COSM4547526 c.4250G>A p.G1417E Substitution - Missense 10:48790910-48790910 + 2492712 COSM5607206 c.6832G>A p.E2278K Substitution - Missense 10:48873581-48873581 + SJMB012 COSM110960 c.6631C>T p.R2211W Substitution - Missense 10:48832677-48832677 + AOCS-137-1-X COSM4138018 c.5399A>G p.Q1800R Substitution - Missense 10:48817303-48817303 + 2318503 COSM4777432 c.2431T>A p.F811I Substitution - Missense 10:48743520-48743520 + BD130T COSM5516022 c.3078C>T p.D1026D Substitution - coding silent 10:48776964-48776964 + S0091 COSM5881905 c.1427A>G p.E476G Substitution - Missense 10:48731407-48731407 + RK028_C01 COSM3741672 c.1747T>G p.Y583D Substitution - Missense 10:48735939-48735939 + 9227_T COSM5042590 c.7721C>T p.P2574L Substitution - Missense 10:48943421-48943421 + 587284 COSM1232529 c.7030G>A p.E2344K Substitution - Missense 10:48877062-48877062 + STC291 COSM5050202 c.693C>T p.D231D Substitution - coding silent 10:48976967-48976967 + CSCC-31-T COSM4493399 c.4149C>T p.S1383S Substitution - coding silent 10:48790809-48790809 + PD11336a COSM5767011 c.903-4C>A p.? Unknown 10:48982505-48982505 + TCGA-D5-6927-01 COSM1347995 c.3062C>T p.S1021L Substitution - Missense 10:48776948-48776948 + CHC1594T COSM4805047 c.273C>A p.T91T Substitution - coding silent 10:48970220-48970220 + PT19_1 COSM5899612 c.3112C>T p.P1038S Substitution - Missense 10:48777432-48777432 + HCC086T COSM5813222 c.4226A>T p.D1409V Substitution - Missense 10:48790886-48790886 + PT20_2 COSM5900773 c.7636G>A p.D2546N Substitution - Missense 10:48943336-48943336 + Region-5 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + C086 COSM4638806 c.2545C>T p.H849Y Substitution - Missense 10:48760432-48760432 + sysucc-1173T COSM5459558 c.7823A>G p.K2608R Substitution - Missense 10:48946113-48946113 + CSCC-31-T COSM4474845 c.1948C>T p.L650L Substitution - coding silent 10:48743037-48743037 + HCC57 COSM1603486 c.5540G>T p.S1847I Substitution - Missense 10:48820268-48820268 + TCGA-B5-A11X-01 COSM918532 c.5633C>T p.T1878M Substitution - Missense 10:48820361-48820361 + TCGA-DD-A4NO-01 COSM4912882 c.5263G>A p.E1755K Substitution - Missense 10:48814005-48814005 + Region-18 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + TCGA-B5-A11E-01 COSM918568 c.221G>A p.R74H Substitution - Missense 10:48970168-48970168 + HCC86 COSM1603481 c.228C>G p.F76L Substitution - Missense 10:48709960-48709960 + ATL043 COSM5703621 c.2620C>T p.R874C Substitution - Missense 10:48774524-48774524 + TCGA-AP-A0LM-01 COSM918500 c.585C>T p.F195F Substitution - coding silent 10:48723561-48723561 + Region-30 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + CSCC-44-T COSM4518206 c.5606_5607CC>TT p.P1869L Substitution - Missense 10:48820334-48820335 + HT115 COSM2144990 c.9187G>T p.A3063S Substitution - Missense 10:48976875-48976875 + MedB-1 COSM5622157 c.1162G>A p.V388I Substitution - Missense 10:48731142-48731142 + HCC2998 COSM2144994 c.797A>C p.K266T Substitution - Missense 10:48981373-48981373 + TCGA-AP-A0LM-01 COSM918569 c.9133G>A p.A3045T Substitution - Missense 10:48976821-48976821 + RKO COSM2144805 c.5371G>A p.A1791T Substitution - Missense 10:48817275-48817275 + LUAD-5V8LT COSM401041 c.4596C>A p.G1532G Substitution - coding silent 10:48805371-48805371 + TCGA-BP-4789-01 COSM3358769 c.7079C>T p.A2360V Substitution - Missense 10:48877111-48877111 + 587338 COSM1232526 c.2170C>A p.L724M Substitution - Missense 10:48743259-48743259 + ME011T COSM224368 c.2255C>T p.S752F Substitution - Missense 10:48743344-48743344 + ACINAR20 COSM1734760 c.6632G>A p.R2211Q Substitution - Missense 10:48832678-48832678 + PDA_047 COSM5000557 c.6227C>A p.P2076Q Substitution - Missense 10:48828783-48828783 + U2940 COSM5622156 c.483T>G p.H161Q Substitution - Missense 10:48975002-48975002 + 8058333 COSM3382901 c.198C>T p.F66F Substitution - coding silent 10:48970145-48970145 + TCGA-DM-A28G-01 COSM1348006 c.5528G>A p.R1843Q Substitution - Missense 10:48820256-48820256 + TCGA-AP-A0LM-01 COSM918570 c.547G>A p.A183T Substitution - Missense 10:48976821-48976821 + S02194 COSM5674769 c.457G>A p.E153K Substitution - Missense 10:48723433-48723433 + PAPEFH COSM5004277 c.6340+10A>G p.? Unknown 10:48828906-48828906 + WA16 COSM242237 c.2993C>T p.T998M Substitution - Missense 10:48776879-48776879 + T155 COSM1176742 c.5050C>A p.L1684M Substitution - Missense 10:48811544-48811544 + ESCC_BICR_024T COSM5440815 c.4694A>T p.E1565V Substitution - Missense 10:48806051-48806051 + LUAD-S01302 COSM395420 c.629G>T p.C210F Substitution - Missense 10:48976903-48976903 + CHC892T COSM4794861 c.4138G>A p.G1380S Substitution - Missense 10:48790798-48790798 + TCGA-D5-6924-01 COSM1347994 c.2917G>T p.A973S Substitution - Missense 10:48776803-48776803 + CSCC-41-T COSM4523730 c.1230G>A p.R410R Substitution - coding silent 10:48731210-48731210 + HCC066T COSM5820974 c.8770-2A>T p.? Unknown 10:48970129-48970129 + 587234 COSM1232531 c.8164G>A p.V2722M Substitution - Missense 10:48959754-48959754 + YURAY COSM5370710 c.1527C>T p.L509L Substitution - coding silent 10:48731507-48731507 + CSCC-56-T COSM4469501 c.1601C>T p.P534L Substitution - Missense 10:48733949-48733949 + PT45 COSM5583041 c.3329C>T p.S1110F Substitution - Missense 10:48778764-48778764 + BD87T COSM5505299 c.2863G>A p.G955R Substitution - Missense 10:48775806-48775806 + Region-7 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + DLD1 COSM4621851 c.849G>A p.L283L Substitution - coding silent 10:48981425-48981425 + TCGA-D1-A103-01 COSM918533 c.5983-1G>T p.? Unknown 10:48826670-48826670 + 2492723 COSM5721500 c.8511G>A p.V2837V Substitution - coding silent 10:48966600-48966600 + Region-16 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + RH18C COSM2144992 c.9290G>A p.R3097Q Substitution - Missense 10:48976978-48976978 + 49M COSM5593961 c.6492G>A p.E2164E Substitution - coding silent 10:48830851-48830851 + HCC86T COSM1603481 c.228C>G p.F76L Substitution - Missense 10:48709960-48709960 + SJMB016 COSM255581 c.487C>A p.L163I Substitution - Missense 10:48723463-48723463 + 1N40-VS-1T40 COSM4975282 c.6762C>T p.I2254I Substitution - coding silent 10:48873511-48873511 + 2492700 COSM5600849 c.1890G>A p.R630R Substitution - coding silent 10:48742979-48742979 + DLD1 COSM2144608 c.462G>A p.T154T Substitution - coding silent 10:48723438-48723438 + HCC57T COSM1603486 c.5540G>T p.S1847I Substitution - Missense 10:48820268-48820268 + TCGA-A7-A13D-01 COSM427601 c.1355T>C p.L452P Substitution - Missense 10:48731335-48731335 + C058 COSM5525818 c.8146G>A p.G2716R Substitution - Missense 10:48959736-48959736 + PM-5 COSM5620149 c.5147A>G p.E1716G Substitution - Missense 10:48811641-48811641 + CHC892T COSM4961123 c.39G>A p.G13G Substitution - coding silent 10:48969104-48969104 + CRC-02T COSM5453736 c.9157A>G p.N3053D Substitution - Missense 10:48976845-48976845 + TCGA-AU-6004-01 COSM1348034 c.380C>T p.A127V Substitution - Missense 10:48974899-48974899 + sysucc-1173T COSM5459557 c.7809G>A p.Q2603Q Substitution - coding silent 10:48946099-48946099 + 2293782 COSM4608317 c.3936C>A p.S1312R Substitution - Missense 10:48788657-48788657 + 19 COSM5747126 c.7397C>T p.A2466V Substitution - Missense 10:48897534-48897534 + CSCC-60-T COSM4485637 c.2954C>T p.P985L Substitution - Missense 10:48776840-48776840 + 587378 COSM1232527 c.3271C>T p.R1091C Substitution - Missense 10:48778706-48778706 + B105-Tumor COSM3931064 c.6396A>G p.Q2132Q Substitution - coding silent 10:48830755-48830755 + CHC1594T COSM4805047 c.273C>A p.T91T Substitution - coding silent 10:48970220-48970220 + 2492721 COSM5721502 c.716C>T p.T239I Substitution - Missense 10:48978319-48978319 + ESCC_143 COSM5643951 c.971G>A p.R324Q Substitution - Missense 10:48727659-48727659 + TCGA-AN-A046-01 COSM3807243 c.467G>A p.G156D Substitution - Missense 10:48723443-48723443 + 587376 COSM1232538 c.3911G>T p.R1304I Substitution - Missense 10:48788632-48788632 + C058 COSM5525817 c.6887G>A p.R2296Q Substitution - Missense 10:48873636-48873636 + PT33 COSM5541688 c.6232G>A p.G2078R Substitution - Missense 10:48828788-48828788 + TCGA-AZ-6598-01 COSM1348005 c.5420G>A p.R1807H Substitution - Missense 10:48817324-48817324 + TCGA-B5-A11E-01 COSM918555 c.7829A>C p.K2610T Substitution - Missense 10:48946119-48946119 + PCSI_0547_Pa_P_526 COSM5032082 c.5901G>C p.K1967N Substitution - Missense 10:48822456-48822456 + 2492720 COSM5370715 c.2018C>T p.S673F Substitution - Missense 10:48743107-48743107 + CHC1763T COSM4789689 c.5340G>A p.Q1780Q Substitution - coding silent 10:48814082-48814082 + TCGA-AP-A059-01 COSM918520 c.4355G>A p.R1452K Substitution - Missense 10:48796395-48796395 + 2492701 COSM5541682 c.2402G>A p.G801E Substitution - Missense 10:48743491-48743491 + CRC-02T COSM5453735 c.5285T>G p.L1762R Substitution - Missense 10:48814027-48814027 + TCGA-CM-6166-01 COSM1348007 c.5608G>A p.A1870T Substitution - Missense 10:48820336-48820336 + RK224_C01 COSM4943688 c.782-7C>T p.? Unknown 10:48727463-48727463 + PT33 COSM5909058 c.562G>A p.D188N Substitution - Missense 10:48723538-48723538 + DLD1 COSM2144831 c.6247C>T p.P2083S Substitution - Missense 10:48828803-48828803 + TCGA-BS-A0UV-01 COSM918564 c.97G>A p.V33M Substitution - Missense 10:48969162-48969162 + RK164_C01 COSM3741677 c.231C>T p.C77C Substitution - coding silent 10:48970178-48970178 + YURAY COSM5370707 c.1170G>A p.Q390Q Substitution - coding silent 10:48731150-48731150 + 5T COSM3709856 c.9092C>A p.T3031N Substitution - Missense 10:48975025-48975025 + PTC-28C COSM4144724 c.4245C>A p.I1415I Substitution - coding silent 10:48790905-48790905 + YUOMEGA COSM5370728 c.5866C>T p.P1956S Substitution - Missense 10:48822421-48822421 + AOCS-094-1-1 COSM4138022 c.7522A>T p.S2508C Substitution - Missense 10:48900305-48900305 + 37P3 COSM1347999 c.3628G>A p.A1210T Substitution - Missense 10:48786690-48786690 + Au5 COSM5606187 c.6430G>A p.D2144N Substitution - Missense 10:48830789-48830789 + 2492721 COSM5721500 c.8511G>A p.V2837V Substitution - coding silent 10:48966600-48966600 + TCGA-AD-6901-01 COSM1348000 c.3804C>G p.V1268V Substitution - coding silent 10:48786866-48786866 + MO_1262 COSM5550807 c.2996C>T p.A999V Substitution - Missense 10:48776882-48776882 + Gp5D COSM2144998 c.928G>A p.D310N Substitution - Missense 10:48982534-48982534 + Au10 COSM5598946 c.946C>T p.P316S Substitution - Missense 10:48727634-48727634 + 139 COSM3724159 c.801G>T p.W267C Substitution - Missense 10:48981377-48981377 + TCGA-CJ-4875-01 COSM3358767 c.2829A>T p.S943S Substitution - coding silent 10:48775772-48775772 + HCT8 COSM2144761 c.4086C>A p.S1362S Substitution - coding silent 10:48790746-48790746 + CSCC-31-T COSM4518160 c.53_54CC>TT p.S18F Substitution - Missense 10:48709785-48709786 + CT219 COSM5044953 c.2426G>C p.R809P Substitution - Missense 10:48743515-48743515 + TCGA-D1-A15V-01 COSM918528 c.5398C>A p.Q1800K Substitution - Missense 10:48817302-48817302 + TCGA-AU-6004-01 COSM1348033 c.8966C>T p.A2989V Substitution - Missense 10:48974899-48974899 + CPCG0006-F1 COSM4966690 c.5497G>T p.A1833S Substitution - Missense 10:48817401-48817401 + CDGLIV0707A0251_T COSM5041638 c.6230A>T p.E2077V Substitution - Missense 10:48828786-48828786 + TCGA-EI-6917-01 COSM1348005 c.5420G>A p.R1807H Substitution - Missense 10:48817324-48817324 + TCGA-B5-A11H-01 COSM918512 c.2833_2834delCA p.H947fs*17 Deletion - Frameshift 10:48775776-48775777 + CSCC-27-T COSM4512294 c.898C>T p.P300S Substitution - Missense 10:48727586-48727586 + YULOCUS COSM4469501 c.1601C>T p.P534L Substitution - Missense 10:48733949-48733949 + TCGA-CZ-5452-01 COSM465688 c.3492C>T p.H1164H Substitution - coding silent 10:48780035-48780035 + CSCC-29-T COSM4494221 c.4293C>T p.L1431L Substitution - coding silent 10:48796333-48796333 + HT55 COSM2144713 c.2614A>T p.K872* Substitution - Nonsense 10:48774518-48774518 + TCGA-F5-6465-01 COSM1560764 c.4407C>T p.F1469F Substitution - coding silent 10:48796447-48796447 + HCC2998 COSM2144859 c.6730G>T p.D2244Y Substitution - Missense 10:48867331-48867331 + 2492724 COSM5724897 c.7609A>T p.I2537F Substitution - Missense 10:48941828-48941828 + YURAY COSM4922916 c.5612G>A p.R1871Q Substitution - Missense 10:48820340-48820340 + LP6007546-DNA_A01 COSM5952201 c.799C>T p.L267F Substitution - Missense 10:48727487-48727487 + CHC1704T COSM4951271 c.8428C>A p.P2810T Substitution - Missense 10:48964046-48964046 + PT45 COSM5927618 c.6074C>T p.P2025L Substitution - Missense 10:48826762-48826762 + 436 COSM4433957 c.644G>T p.G215V Substitution - Missense 10:48725933-48725933 + 2334202 COSM324284 c.1735G>T p.D579Y Substitution - Missense 10:48735927-48735927 + CSCC-20-T COSM4537297 c.2401G>A p.G801R Substitution - Missense 10:48743490-48743490 + CSCC-4-T COSM4535272 c.2175G>A p.E725E Substitution - coding silent 10:48743264-48743264 + CTS45 COSM5044955 c.3023C>A p.P1008Q Substitution - Missense 10:48776909-48776909 + CACO2 COSM4620577 c.8920C>T p.L2974F Substitution - Missense 10:48970281-48970281 + RMS217 COSM5881157 c.1381T>G p.Y461D Substitution - Missense 10:48731361-48731361 + YULETA COSM5370736 c.7780C>T p.R2594W Substitution - Missense 10:48946070-48946070 + Region-10 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + TCGA-BS-A0UV-01 COSM918558 c.8161G>T p.D2721Y Substitution - Missense 10:48959751-48959751 + 35M COSM1232536 c.3349G>A p.D1117N Substitution - Missense 10:48778784-48778784 + TCGA-EK-A2RO-01 COSM4492344 c.3965C>T p.S1322L Substitution - Missense 10:48789884-48789884 + OSCC-GB_00050111 COSM3709847 c.510C>G p.C170W Substitution - Missense 10:48723486-48723486 + Au1 COSM5597882 c.219C>T p.L73L Substitution - coding silent 10:48709951-48709951 + PD4126a COSM165554 c.5885C>T p.S1962F Substitution - Missense 10:48822440-48822440 + ESOSCC157T COSM1171693 c.737T>C p.V246A Substitution - Missense 10:48978340-48978340 + HT115 COSM2144757 c.3951A>C p.K1317N Substitution - Missense 10:48788672-48788672 + sysucc-1163T COSM5458132 c.5825-4A>G p.? Unknown 10:48822376-48822376 + PCSI_0256_Pa_P_526 COSM4807375 c.625A>T p.T209S Substitution - Missense 10:48976899-48976899 + 587376 COSM1232543 c.8320A>C p.N2774H Substitution - Missense 10:48963938-48963938 + TCGA-AP-A0LM-01 COSM918529 c.5413G>A p.V1805I Substitution - Missense 10:48817317-48817317 + C086 COSM5541684 c.2666C>T p.S889F Substitution - Missense 10:48774570-48774570 + TCGA-A2-A0YT-01 COSM427608 c.8061C>T p.D2687D Substitution - coding silent 10:48957212-48957212 + TCGA-CM-5868-01 COSM1348028 c.264C>A p.T88T Substitution - coding silent 10:48970211-48970211 + 36773720 COSM1645122 c.188T>C p.I63T Substitution - Missense 10:48709920-48709920 + C058 COSM5525816 c.7800G>A p.M2600I Substitution - Missense 10:48946090-48946090 + HCT8 COSM2144831 c.6247C>T p.P2083S Substitution - Missense 10:48828803-48828803 + CHC2034T COSM2144809 c.5500C>A p.Q1834K Substitution - Missense 10:48817404-48817404 + HCT15 COSM2144954 c.8307A>G p.A2769A Substitution - coding silent 10:48963925-48963925 + 2521260 COSM5891429 c.6359A>G p.K2120R Substitution - Missense 10:48830718-48830718 + TCGA-D1-A17Q-01 COSM918566 c.139T>G p.F47V Substitution - Missense 10:48969204-48969204 + HCC2998 COSM2144881 c.7110C>A p.F2370L Substitution - Missense 10:48877142-48877142 + TCGA-AX-A0J0-01 COSM918497 c.148A>G p.K50E Substitution - Missense 10:48709880-48709880 + PT21_2 COSM5901692 c.7978-7C>T p.? Unknown 10:48957122-48957122 + TCGA-FU-A3HZ-01 COSM4840907 c.4647-1G>T p.? Unknown 10:48806003-48806003 + BCM339T COSM4802475 c.5372C>T p.A1791V Substitution - Missense 10:48817276-48817276 + pfg173T COSM4754913 c.5466G>T p.Q1822H Substitution - Missense 10:48817370-48817370 + T6 COSM3382894 c.1936G>A p.G646R Substitution - Missense 10:48743025-48743025 + 9227_T COSM5039350 c.3808+1G>A p.? Unknown 10:48786871-48786871 + CHC892T COSM2144739 c.3170G>T p.G1057V Substitution - Missense 10:48777490-48777490 + TCGA-AM-5820-01 COSM3751824 c.9064G>A p.A3022T Substitution - Missense 10:48974997-48974997 + SS6003117 COSM5035973 c.7320C>T p.I2440I Substitution - coding silent 10:48897457-48897457 + CN-AML-CR-32-Dx COSM3751826 c.9216C>T p.C3072C Substitution - coding silent 10:48976904-48976904 + RKO COSM4647188 c.523G>T p.G175C Substitution - Missense 10:48976797-48976797 + TCGA-G5-6572-01 COSM2144893 c.7257C>T p.C2419C Substitution - coding silent 10:48890668-48890668 + BCM339T COSM4802475 c.5372C>T p.A1791V Substitution - Missense 10:48817276-48817276 + ME050T COSM230662 c.5458T>C p.F1820L Substitution - Missense 10:48817362-48817362 + LP6007591 COSM5032681 c.9328+3C>T p.? Unknown 10:48978348-48978348 + 0059_CRUK_PC_0059_T1_DNA COSM5423017 c.7642A>T p.S2548C Substitution - Missense 10:48943342-48943342 + 2492723 COSM5721501 c.9302C>T p.T3101I Substitution - Missense 10:48978319-48978319 + YUROG COSM5370725 c.3244G>A p.G1082R Substitution - Missense 10:48778679-48778679 + 2492722 COSM5721501 c.9302C>T p.T3101I Substitution - Missense 10:48978319-48978319 + Region-20 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + 631052 COSM324282 c.194G>T p.R65L Substitution - Missense 10:48709926-48709926 + TCGA-AP-A059-01 COSM918513 c.3598C>T p.P1200S Substitution - Missense 10:48786660-48786660 + ESCC_46 COSM5630461 c.436G>A p.V146M Substitution - Missense 10:48721347-48721347 + LIM2099 COSM4640989 c.4683G>A p.S1561S Substitution - coding silent 10:48806040-48806040 + NOKSI COSM4595543 c.185C>A p.P62H Substitution - Missense 10:48709917-48709917 + OSCC-GB_01210111 COSM5954876 c.384G>A p.A128A Substitution - coding silent 10:48974903-48974903 + CHC892T COSM4794861 c.4138G>A p.G1380S Substitution - Missense 10:48790798-48790798 + LP6005409-DNA_H03 COSM5036040 c.6239G>C p.G2080A Substitution - Missense 10:48828795-48828795 + CHC1763T COSM4789689 c.5340G>A p.Q1780Q Substitution - coding silent 10:48814082-48814082 + KM12 COSM4638808 c.872G>A p.S291N Substitution - Missense 10:48981448-48981448 + C086 COSM5541689 c.2270C>T p.P757L Substitution - Missense 10:48743359-48743359 + 2492701 COSM5600849 c.1890G>A p.R630R Substitution - coding silent 10:48742979-48742979 + TCGA-B5-A11F-01 COSM918553 c.7674C>T p.T2558T Substitution - coding silent 10:48943374-48943374 + LIM1215 COSM4333668 c.7229delT p.F2411fs*106 Deletion - Frameshift 10:48890640-48890640 + Au4 COSM5605340 c.7928C>T p.S2643F Substitution - Missense 10:48946920-48946920 + TCGA-EK-A2RC-01 COSM4848558 c.556G>T p.E186* Substitution - Nonsense 10:48723532-48723532 + CSCC-27-T COSM4503539 c.6420C>T p.A2140A Substitution - coding silent 10:48830779-48830779 + KPOPBR-03-T COSM5965252 c.2269C>T p.P757S Substitution - Missense 10:48743358-48743358 + TCGA-D1-A16O-01 COSM918561 c.8366G>T p.S2789I Substitution - Missense 10:48963984-48963984 + 824_T COSM2144993 c.704G>A p.R235Q Substitution - Missense 10:48976978-48976978 + 8068588 COSM4388846 c.8482C>G p.L2828V Substitution - Missense 10:48966571-48966571 + BD71T COSM5520429 c.8152G>T p.V2718L Substitution - Missense 10:48959742-48959742 + Gp2D COSM2144710 c.2574C>T p.C858C Substitution - coding silent 10:48774478-48774478 + TCGA-G3-A25W-01 COSM4927352 c.2849A>G p.N950S Substitution - Missense 10:48775792-48775792 + TCGA-AP-A059-01 COSM918501 c.592-2A>G p.? Unknown 10:48725879-48725879 + TCGA-B5-A0JY-01 COSM918509 c.2736C>T p.L912L Substitution - coding silent 10:48774640-48774640 + ATL032 COSM5703618 c.1739A>C p.D580A Substitution - Missense 10:48735931-48735931 + TCGA-D1-A0ZQ-01 COSM918556 c.8130C>T p.F2710F Substitution - coding silent 10:48957281-48957281 + HCT116 COSM2144788 c.4984G>A p.D1662N Substitution - Missense 10:48810675-48810675 + YUOMEGA COSM5370713 c.1902C>T p.T634T Substitution - coding silent 10:48742991-48742991 + TCGA-AM-5820-01 COSM3751825 c.478G>A p.A160T Substitution - Missense 10:48974997-48974997 + YUPAER COSM5370738 c.8361C>T p.L2787L Substitution - coding silent 10:48963979-48963979 + GC_356T-GC_356N COSM4774609 c.152G>A p.S51N Substitution - Missense 10:48969217-48969217 + 49M COSM5593962 c.7491C>T p.F2497F Substitution - coding silent 10:48900274-48900274 + Region-28 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + 20T COSM3709850 c.615C>A p.D205E Substitution - Missense 10:48725904-48725904 + CSCC-32-T COSM4456769 c.1020C>T p.L340L Substitution - coding silent 10:48729480-48729480 + CTS45 COSM5044958 c.542C>A p.A181E Substitution - Missense 10:48976816-48976816 + C086 COSM5541680 c.2933G>A p.G978E Substitution - Missense 10:48776819-48776819 + CSCC-11-T COSM4499047 c.532C>T p.P178S Substitution - Missense 10:48723508-48723508 + LUAD-S01346 COSM397399 c.1725G>C p.K575N Substitution - Missense 10:48735917-48735917 + 262T COSM1727082 c.8C>T p.A3V Substitution - Missense 10:48709740-48709740 + SM-4B295 COSM1348007 c.5608G>A p.A1870T Substitution - Missense 10:48820336-48820336 + OSCC-GB_00410111 COSM3709855 c.8010C>T p.F2670F Substitution - coding silent 10:48957161-48957161 + YURAY COSM5370723 c.2961G>A p.G987G Substitution - coding silent 10:48776847-48776847 + TCGA-B5-A11E-01 COSM918567 c.8807G>A p.R2936H Substitution - Missense 10:48970168-48970168 + CSCC-27-T COSM4535195 c.2165G>A p.G722E Substitution - Missense 10:48743254-48743254 + TCGA-D1-A101-01 COSM918530 c.5526C>T p.T1842T Substitution - coding silent 10:48820254-48820254 + PT52 COSM5940089 c.6629G>A p.G2210E Substitution - Missense 10:48832675-48832675 + PT33 COSM5909062 c.889G>A p.D297N Substitution - Missense 10:48727577-48727577 + Au1 COSM5597886 c.579G>A p.Q193Q Substitution - coding silent 10:48976853-48976853 + TCGA-CA-6717-01 COSM1348001 c.3850G>T p.E1284* Substitution - Nonsense 10:48788571-48788571 + CSCC-20-T COSM4589580 c.3767_3768insC p.R1258fs*5 Insertion - Frameshift 10:48786829-48786830 + TCGA-AZ-6600-01 COSM1348012 c.6858G>T p.W2286C Substitution - Missense 10:48873607-48873607 + CSCC-20-T COSM4499694 c.5487C>T p.F1829F Substitution - coding silent 10:48817391-48817391 + TCGA-AO-A124-01 COSM427603 c.5340G>C p.Q1780H Substitution - Missense 10:48814082-48814082 + TCGA-AP-A0LM-01 COSM918511 c.2800C>A p.L934M Substitution - Missense 10:48775743-48775743 + PGBM15PT COSM1579754 c.7313C>G p.S2438C Substitution - Missense 10:48890724-48890724 + 1946219 COSM1578431 c.29_30ins12 p.D15_P16insRNED Insertion - In frame 10:48709761-48709762 + PD22355a COSM5793667 c.7125G>C p.R2375R Substitution - coding silent 10:48877157-48877157 + CTS45 COSM5044959 c.922G>T p.V308F Substitution - Missense 10:48982528-48982528 + RK262_C01 COSM4778775 c.7394A>G p.Y2465C Substitution - Missense 10:48897531-48897531 + 2492725 COSM5724897 c.7609A>T p.I2537F Substitution - Missense 10:48941828-48941828 + TCGA-AX-A0IS-01 COSM918527 c.5391C>T p.S1797S Substitution - coding silent 10:48817295-48817295 + 49M COSM5593956 c.2009G>A p.G670E Substitution - Missense 10:48743098-48743098 + TCGA-AP-A0LM-01 COSM918523 c.4652G>A p.G1551E Substitution - Missense 10:48806009-48806009 + TCGA-B5-A0JY-01 COSM918559 c.8177C>A p.P2726H Substitution - Missense 10:48959767-48959767 + C086 COSM5525818 c.8146G>A p.G2716R Substitution - Missense 10:48959736-48959736 + 41T COSM3709855 c.8010C>T p.F2670F Substitution - coding silent 10:48957161-48957161 + 8069456 COSM4388976 c.5927T>A p.M1976K Substitution - Missense 10:48822482-48822482 + 37M COSM5584253 c.3113C>T p.P1038L Substitution - Missense 10:48777433-48777433 + TCGA-CA-6717-01 COSM1347989 c.56A>C p.K19T Substitution - Missense 10:48709788-48709788 + TCGA-D1-A177-01 COSM918560 c.8299C>G p.P2767A Substitution - Missense 10:48963917-48963917 + TCGA-AM-5820-01 COSM3751817 c.5535C>T p.T1845T Substitution - coding silent 10:48820263-48820263 + TCGA-AA-3510-01 COSM1348013 c.6886C>T p.R2296* Substitution - Nonsense 10:48873635-48873635 + 587376 COSM1232537 c.3724G>T p.E1242* Substitution - Nonsense 10:48786786-48786786 + TCGA-EI-7004-01 COSM3415070 c.5481C>T p.A1827A Substitution - coding silent 10:48817385-48817385 + TCGA-BS-A0UV-01 COSM918563 c.8683G>A p.V2895M Substitution - Missense 10:48969162-48969162 + TCGA-CM-6171-01 COSM1348025 c.8795C>T p.A2932V Substitution - Missense 10:48970156-48970156 + TCGA-AA-3492-01 COSM1347997 c.3289C>T p.R1097C Substitution - Missense 10:48778724-48778724 + Region-23 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + ACA47 COSM5961726 c.8937T>C p.Y2979Y Substitution - coding silent 10:48974870-48974870 + Gp2D COSM2144901 c.7373A>G p.Y2458C Substitution - Missense 10:48897510-48897510 + 0004_CRUK_PC_0004_T1_DNA COSM918567 c.8807G>A p.R2936H Substitution - Missense 10:48970168-48970168 + sysucc-2026T COSM5460935 c.746G>A p.R249Q Substitution - Missense 10:48978349-48978349 + TCGA-AX-A0J0-01 COSM918498 c.482C>A p.S161Y Substitution - Missense 10:48723458-48723458 + WA17 COSM242239 c.6C>A p.Y2* Substitution - Nonsense 10:48969071-48969071 + TCGA-AM-5820-01 COSM3686765 c.7415G>A p.R2472Q Substitution - Missense 10:48897552-48897552 + DLD1 COSM2144761 c.4086C>A p.S1362S Substitution - coding silent 10:48790746-48790746 + CSCC-45-T COSM4541932 c.3097G>A p.G1033S Substitution - Missense 10:48776983-48776983 + TCGA-AZ-4315-01 COSM1348022 c.7857G>A p.E2619E Substitution - coding silent 10:48946147-48946147 + S01453 COSM5668412 c.3736A>T p.M1246L Substitution - Missense 10:48786798-48786798 + TCGA-CC-A7IH-01 COSM4923302 c.2708C>A p.S903* Substitution - Nonsense 10:48774612-48774612 + TCGA-AP-A0LM-01 COSM918525 c.4811C>T p.S1604F Substitution - Missense 10:48807931-48807931 + OSCC-GB_00690111 COSM4887089 c.5567G>T p.S1856I Substitution - Missense 10:48820295-48820295 + OSCC-GB_00410111 COSM3709854 c.7910C>T p.S2637L Substitution - Missense 10:48946902-48946902 + SNU-175 COSM1734760 c.6632G>A p.R2211Q Substitution - Missense 10:48832678-48832678 + 476 COSM4438415 c.1830A>G p.L610L Substitution - coding silent 10:48736022-48736022 + CHC801T COSM4953354 c.8131G>A p.G2711S Substitution - Missense 10:48957282-48957282 + 2492703 COSM5600849 c.1890G>A p.R630R Substitution - coding silent 10:48742979-48742979 + SNU-C2B COSM2144826 c.6091G>A p.E2031K Substitution - Missense 10:48826779-48826779 + 587376 COSM1232542 c.6746G>A p.R2249Q Substitution - Missense 10:48873495-48873495 + TCGA-BS-A0U5-01 COSM918506 c.1553G>A p.R518Q Substitution - Missense 10:48731533-48731533 + HCC138T COSM5819086 c.6778T>C p.W2260R Substitution - Missense 10:48873527-48873527 + SC_9061 COSM5082518 c.3290G>A p.R1097H Substitution - Missense 10:48778725-48778725 + TCGA-AM-5820-01 COSM3751818 c.6474G>C p.E2158D Substitution - Missense 10:48830833-48830833 + Region-1 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + SNUH_G10_S1 COSM3997995 c.6527-8T>A p.? Unknown 10:48832565-48832565 + TCGA-EP-A3JL-01 COSM4913920 c.5398C>T p.Q1800* Substitution - Nonsense 10:48817302-48817302 + TCGA-D1-A103-01 COSM918524 c.4791G>A p.E1597E Substitution - coding silent 10:48807911-48807911 + PDA_040 COSM5000157 c.2275C>T p.R759W Substitution - Missense 10:48743364-48743364 + PD11364a COSM5796223 c.8818G>A p.A2940T Substitution - Missense 10:48970179-48970179 + MedB-1 COSM5622163 c.2630T>C p.M877T Substitution - Missense 10:48774534-48774534 + PD23559a COSM5795932 c.1562C>T p.A521V Substitution - Missense 10:48731542-48731542 + HT55 COSM2144706 c.2370C>A p.T790T Substitution - coding silent 10:48743459-48743459 + 1N44-VS-1T44 COSM4975660 c.7106A>G p.D2369G Substitution - Missense 10:48877138-48877138 + HCT15 COSM4632530 c.2188C>A p.L730M Substitution - Missense 10:48743277-48743277 + 2492721 COSM5721501 c.9302C>T p.T3101I Substitution - Missense 10:48978319-48978319 + YUDIVI COSM5370730 c.6664G>A p.D2222N Substitution - Missense 10:48867265-48867265 + 0004_CRUK_PC_0004_T1_DNA COSM918568 c.221G>A p.R74H Substitution - Missense 10:48970168-48970168 + GC_356T-GC_356N COSM4774608 c.8738G>A p.S2913N Substitution - Missense 10:48969217-48969217 + RK245_C01 COSM4780446 c.4041T>A p.I1347I Substitution - coding silent 10:48789960-48789960 + WA35 COSM242238 c.6125T>C p.L2042P Substitution - Missense 10:48826813-48826813 + C086 COSM5541695 c.2292C>T p.L764L Substitution - coding silent 10:48743381-48743381 + 2521243 COSM5886697 c.5825-5C>T p.? Unknown 10:48822375-48822375 + PCSI_0083_Pa_P_526 COSM3786689 c.8903G>A p.R2968H Substitution - Missense 10:48970264-48970264 + Detroit_562 COSM1348002 c.4119C>T p.G1373G Substitution - coding silent 10:48790779-48790779 + 2492720 COSM5721500 c.8511G>A p.V2837V Substitution - coding silent 10:48966600-48966600 + CHC892T COSM4793947 c.4025G>A p.G1342E Substitution - Missense 10:48789944-48789944 + WA26 COSM238426 c.4192C>T p.L1398L Substitution - coding silent 10:48790852-48790852 + PCSI_0256_Pa_P_526 COSM4807374 c.9211A>T p.T3071S Substitution - Missense 10:48976899-48976899 + TP_2009 COSM5558896 c.6097C>G p.L2033V Substitution - Missense 10:48826785-48826785 + OSCC-GB_00200111 COSM3709850 c.615C>A p.D205E Substitution - Missense 10:48725904-48725904 + 8052570 COSM3382897 c.5427C>G p.Y1809* Substitution - Nonsense 10:48817331-48817331 + TCGA-AZ-4615-01 COSM3686761 c.651G>A p.E217E Substitution - coding silent 10:48725940-48725940 + TCGA-UB-A7MB-01 COSM4932727 c.8516T>A p.L2839Q Substitution - Missense 10:48966605-48966605 + 1517_PT COSM5753498 c.8416T>A p.F2806I Substitution - Missense 10:48964034-48964034 + Au8 COSM5607206 c.6832G>A p.E2278K Substitution - Missense 10:48873581-48873581 + TP_2034 COSM5565190 c.7504C>T p.R2502W Substitution - Missense 10:48900287-48900287 + TCGA-AP-A0LM-01 COSM918562 c.8474G>A p.G2825E Substitution - Missense 10:48966563-48966563 + SNUH_G10_S1 COSM3997992 c.4287C>T p.A1429A Substitution - coding silent 10:48796327-48796327 + TCGA-AR-A24P-01 COSM1474630 c.4519G>C p.A1507P Substitution - Missense 10:48805294-48805294 + 824_T COSM2144992 c.9290G>A p.R3097Q Substitution - Missense 10:48976978-48976978 + TCGA-IZ-A6M9-01 COSM3985630 c.3218C>T p.S1073F Substitution - Missense 10:48778653-48778653 + 587376 COSM1232541 c.6002C>A p.S2001Y Substitution - Missense 10:48826690-48826690 + YUKAT COSM5370731 c.7523G>A p.S2508N Substitution - Missense 10:48900306-48900306 + TCGA-CM-5861-01 COSM1347993 c.2832_2833insCA p.R948fs*54 Insertion - Frameshift 10:48775775-48775776 + TCGA-D8-A27F-01 COSM918529 c.5413G>A p.V1805I Substitution - Missense 10:48817317-48817317 + C84 COSM4619949 c.6414G>A p.E2138E Substitution - coding silent 10:48830773-48830773 + RK006_C1 COSM1627515 c.7882C>A p.Q2628K Substitution - Missense 10:48946874-48946874 + TCGA-A2-A0T5-01 COSM3807265 c.8503A>C p.T2835P Substitution - Missense 10:48966592-48966592 + pfg205T COSM4754929 c.7301G>A p.R2434H Substitution - Missense 10:48890712-48890712 + Ad4 COSM4440988 c.3401T>C p.V1134A Substitution - Missense 10:48779944-48779944 + PT36 COSM5607206 c.6832G>A p.E2278K Substitution - Missense 10:48873581-48873581 + CSCC-29-T COSM4548340 c.444G>A p.T148T Substitution - coding silent 10:48721355-48721355 + TCGA-AD-6889-01 COSM1348008 c.5758G>A p.E1920K Substitution - Missense 10:48821110-48821110 + 2492702 COSM5541682 c.2402G>A p.G801E Substitution - Missense 10:48743491-48743491 + ESCC_107 COSM5638414 c.5157C>G p.L1719L Substitution - coding silent 10:48811651-48811651 + S01861 COSM5670955 c.6430G>T p.D2144Y Substitution - Missense 10:48830789-48830789 + CSCC-31-T COSM4535296 c.2176G>A p.E726K Substitution - Missense 10:48743265-48743265 + PCSI_0017_Pa_P COSM216278 c.1611G>T p.Q537H Substitution - Missense 10:48733959-48733959 + S01297 COSM5667358 c.6785G>T p.R2262M Substitution - Missense 10:48873534-48873534 + 3206A7_017_T COSM5043125 c.3412G>T p.E1138* Substitution - Nonsense 10:48779955-48779955 + TCGA-D8-A1XQ-01 COSM3807253 c.5418C>A p.H1806Q Substitution - Missense 10:48817322-48817322 + CPCG0184-P4 COSM146932 c.6100G>A p.G2034S Substitution - Missense 10:48826788-48826788 + CSCC-41-T COSM4551984 c.5455G>A p.E1819K Substitution - Missense 10:48817359-48817359 + sysucc-2026T COSM5460934 c.9328+4G>A p.? Unknown 10:48978349-48978349 + TCGA-AM-5821-01 COSM3751827 c.630C>T p.C210C Substitution - coding silent 10:48976904-48976904 + 587376 COSM1232539 c.4162G>T p.D1388Y Substitution - Missense 10:48790822-48790822 + TCGA-BS-A0UV-01 COSM918510 c.2795C>A p.S932* Substitution - Nonsense 10:48775738-48775738 + PD11750a COSM5786521 c.6762C>G p.I2254M Substitution - Missense 10:48873511-48873511 + TCGA-BS-A0UF-01 COSM918571 c.903-1G>T p.? Unknown 10:48982508-48982508 + TCGA-CM-6171-01 COSM1348026 c.209C>T p.A70V Substitution - Missense 10:48970156-48970156 + 8015299 COSM3769123 c.8028G>A p.T2676T Substitution - coding silent 10:48957179-48957179 + YUKAT COSM5370733 c.7659C>T p.L2553L Substitution - coding silent 10:48943359-48943359 + SNUH_G26_S1 COSM3675775 c.4714G>A p.G1572R Substitution - Missense 10:48806071-48806071 + SC_9081 COSM5568907 c.2559C>T p.S853S Substitution - coding silent 10:48774463-48774463 + TCGA-AX-A0J0-01 COSM918537 c.6864C>T p.L2288L Substitution - coding silent 10:48873613-48873613 + Region-2 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + HCT15 COSM2144972 c.8821G>C p.V2941L Substitution - Missense 10:48970182-48970182 + 2492702 COSM5600849 c.1890G>A p.R630R Substitution - coding silent 10:48742979-48742979 + C547 COSM3415068 c.4265C>T p.A1422V Substitution - Missense 10:48796305-48796305 + TCGA-F5-6814-01 COSM3415066 c.2530T>C p.L844L Substitution - coding silent 10:48760417-48760417 + TCGA-B5-A0JY-01 COSM231205 c.970C>T p.R324W Substitution - Missense 10:48727658-48727658 + C0007T COSM4165489 c.3333C>A p.V1111V Substitution - coding silent 10:48778768-48778768 + CSCC-27-T COSM4459789 c.113C>T p.S38F Substitution - Missense 10:48709845-48709845 + sysucc-707T COSM5460000 c.636C>T p.C212C Substitution - coding silent 10:48976910-48976910 + sysucc-1242T COSM5766811 c.3697C>T p.R1233C Substitution - Missense 10:48786759-48786759 + CSCC-29-T COSM4527760 c.1489G>A p.D497N Substitution - Missense 10:48731469-48731469 + S00832 COSM5660751 c.2222C>A p.P741Q Substitution - Missense 10:48743311-48743311 + U2940 COSM5622155 c.9069T>G p.H3023Q Substitution - Missense 10:48975002-48975002 + BD72T COSM5512664 c.4523A>G p.Q1508R Substitution - Missense 10:48805298-48805298 + TCGA-CC-5259-01 COSM4928114 c.96A>T p.P32P Substitution - coding silent 10:48709828-48709828 + 8049042 COSM3382896 c.3050C>A p.A1017D Substitution - Missense 10:48776936-48776936 + 37P2 COSM1347999 c.3628G>A p.A1210T Substitution - Missense 10:48786690-48786690 + Au3 COSM5602602 c.7990G>A p.D2664N Substitution - Missense 10:48957141-48957141 + 8066081 COSM3382898 c.5431C>A p.Q1811K Substitution - Missense 10:48817335-48817335 + HCC161 COSM3665751 c.4619G>A p.G1540D Substitution - Missense 10:48805394-48805394 + CPCG0184-P2 COSM146932 c.6100G>A p.G2034S Substitution - Missense 10:48826788-48826788 + PD4125a COSM165553 c.6530C>T p.S2177F Substitution - Missense 10:48832576-48832576 + 2492701 COSM5600851 c.7941G>A p.R2647R Substitution - coding silent 10:48946933-48946933 + C089 COSM5543608 c.2623C>T p.Q875* Substitution - Nonsense 10:48774527-48774527 + CSCC-11-T COSM4492344 c.3965C>T p.S1322L Substitution - Missense 10:48789884-48789884 + 19 COSM5747127 c.8869G>A p.V2957M Substitution - Missense 10:48970230-48970230 + 2492702 COSM5600851 c.7941G>A p.R2647R Substitution - coding silent 10:48946933-48946933 + SNU-C4 COSM4651796 c.4056G>A p.V1352V Substitution - coding silent 10:48789975-48789975 + CHC892T COSM4961123 c.39G>A p.G13G Substitution - coding silent 10:48969104-48969104 + pfg122T COSM4754923 c.6748A>C p.K2250Q Substitution - Missense 10:48873497-48873497 + 174-01-3TD COSM146099 c.1198G>A p.V400I Substitution - Missense 10:48731178-48731178 + TCGA-AM-5821-01 COSM3751815 c.4075G>A p.V1359I Substitution - Missense 10:48790735-48790735 + TCGA-AM-5820-01 COSM3751819 c.7283G>C p.G2428A Substitution - Missense 10:48890694-48890694 + 587284 COSM1232530 c.8285A>C p.Y2762S Substitution - Missense 10:48963903-48963903 + 587376 COSM1232533 c.1120G>T p.E374* Substitution - Nonsense 10:48729580-48729580 + TCGA-DD-A115-01 COSM4919694 c.1437G>T p.G479G Substitution - coding silent 10:48731417-48731417 + STC291 COSM5050201 c.9279C>T p.D3093D Substitution - coding silent 10:48976967-48976967 + PT52 COSM5940090 c.3623C>T p.P1208L Substitution - Missense 10:48786685-48786685 + PT37 COSM5920028 c.2786G>A p.G929E Substitution - Missense 10:48775729-48775729 + 8043983 COSM3382891 c.1449C>A p.T483T Substitution - coding silent 10:48731429-48731429 + SNU-175 COSM2144865 c.6776C>T p.A2259V Substitution - Missense 10:48873525-48873525 + ME049T COSM230195 c.41C>T p.A14V Substitution - Missense 10:48969106-48969106 + 8016470 COSM3382894 c.1936G>A p.G646R Substitution - Missense 10:48743025-48743025 + C086 COSM5370730 c.6664G>A p.D2222N Substitution - Missense 10:48867265-48867265 + Region-13 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + TCGA-D1-A0ZS-01 COSM918516 c.4152A>G p.L1384L Substitution - coding silent 10:48790812-48790812 + HCT15 COSM2144973 c.235G>C p.V79L Substitution - Missense 10:48970182-48970182 + AOCS-137-3-7 COSM4138018 c.5399A>G p.Q1800R Substitution - Missense 10:48817303-48817303 + CSCC-11-T COSM4450115 c.4484+1G>A p.? Unknown 10:48803360-48803360 + sysucc-880T COSM1347999 c.3628G>A p.A1210T Substitution - Missense 10:48786690-48786690 + pfg145T COSM4754909 c.4871C>A p.P1624H Substitution - Missense 10:48810562-48810562 + CSCC-7-T COSM4543451 c.337G>A p.G113R Substitution - Missense 10:48720113-48720113 + TCGA-AC-A62X-01 COSM4390587 c.4120G>A p.G1374R Substitution - Missense 10:48790780-48790780 + TCGA-D5-6922-01 COSM1348031 c.8901C>T p.G2967G Substitution - coding silent 10:48970262-48970262 + PD6415a COSM5774738 c.2194C>T p.R732C Substitution - Missense 10:48743283-48743283 + Gp5D COSM2144710 c.2574C>T p.C858C Substitution - coding silent 10:48774478-48774478 + TCGA-G4-6293-01 COSM1347991 c.2500G>A p.V834M Substitution - Missense 10:48760387-48760387 + TCGA-D5-6927-01 COSM1347990 c.1688-1G>T p.? Unknown 10:48735879-48735879 + CSCC-44-T COSM4510872 c.8507C>T p.P2836L Substitution - Missense 10:48966596-48966596 + TCGA-GM-A5PX-01 COSM3807250 c.4108G>T p.D1370Y Substitution - Missense 10:48790768-48790768 + S00827 COSM5659430 c.1130G>T p.G377V Substitution - Missense 10:48731110-48731110 + 8057513 COSM3382898 c.5431C>A p.Q1811K Substitution - Missense 10:48817335-48817335 + BRC39 COSM5027218 c.5412C>T p.L1804L Substitution - coding silent 10:48817316-48817316 + CSB1 COSM5027216 c.1983C>G p.L661L Substitution - coding silent 10:48743072-48743072 + T28 COSM5341253 c.6416A>T p.D2139V Substitution - Missense 10:48830775-48830775 + CSCC-29-T COSM4567643 c.8031_8032GG>AA p.W2677_E2678>* Complex - deletion inframe 10:48957182-48957183 + MedB-1 COSM5622160 c.1739A>T p.D580V Substitution - Missense 10:48735931-48735931 + PD7321a COSM4390587 c.4120G>A p.G1374R Substitution - Missense 10:48790780-48790780 + RD COSM2144890 c.7178A>C p.K2393T Substitution - Missense 10:48890589-48890589 + 2492700 COSM5600851 c.7941G>A p.R2647R Substitution - coding silent 10:48946933-48946933 + YUDIVI COSM5370741 c.9340G>A p.G3114S Substitution - Missense 10:48982571-48982571 + PT48 COSM2144654 c.1130-6C>T p.? Unknown 10:48731104-48731104 + 783_T COSM3978560 c.5688G>C p.L1896L Substitution - coding silent 10:48820416-48820416 + 46M COSM4502598 c.6177C>T p.F2059F Substitution - coding silent 10:48826865-48826865 + C086 COSM5541686 c.8198G>A p.R2733Q Substitution - Missense 10:48959788-48959788 + PT35 COSM5913132 c.64G>A p.G22R Substitution - Missense 10:48709796-48709796 + AOCS-086-3-2 COSM4138014 c.2137G>A p.E713K Substitution - Missense 10:48743226-48743226 + CHC1704T COSM4951271 c.8428C>A p.P2810T Substitution - Missense 10:48964046-48964046 + pfg122T COSM4765221 c.5487_5488insC p.L1831fs*10 Insertion - Frameshift 10:48817391-48817392 + T84 COSM2144986 c.9131G>T p.G3044V Substitution - Missense 10:48976819-48976819 + AOCS-112-1-2 COSM4138016 c.5100G>T p.G1700G Substitution - coding silent 10:48811594-48811594 + 587268 COSM1232524 c.688C>G p.Q230E Substitution - Missense 10:48976962-48976962 + PD7299a COSM1638191 c.688G>A p.E230K Substitution - Missense 10:48725977-48725977 + PTC-10C COSM1560763 c.5447G>A p.R1816Q Substitution - Missense 10:48817351-48817351 + PT46 COSM5929252 c.4183G>T p.V1395L Substitution - Missense 10:48790843-48790843 + ESCC_84 COSM5636363 c.5835G>A p.E1945E Substitution - coding silent 10:48822390-48822390 + TCGA-A6-5665-01 COSM1348011 c.6828delG p.E2278fs*20 Deletion - Frameshift 10:48873577-48873577 + CSCC-42-T COSM4556359 c.6894G>A p.R2298R Substitution - coding silent 10:48873643-48873643 + sysucc-1038T COSM3931064 c.6396A>G p.Q2132Q Substitution - coding silent 10:48830755-48830755 + CSCC-7-T COSM4499586 c.5460C>T p.F1820F Substitution - coding silent 10:48817364-48817364 + sysucc-707T COSM5459999 c.9222C>T p.C3074C Substitution - coding silent 10:48976910-48976910 + PD4972a COSM5793390 c.6603G>C p.L2201L Substitution - coding silent 10:48832649-48832649 + 2492726 COSM5724897 c.7609A>T p.I2537F Substitution - Missense 10:48941828-48941828 + PCSI_0125_Pa_P COSM3375476 c.7086C>T p.H2362H Substitution - coding silent 10:48877118-48877118 + TCGA-C8-A274-01 COSM1474628 c.522C>T p.F174F Substitution - coding silent 10:48723498-48723498 + CHC1763T COSM4789729 c.7156G>A p.D2386N Substitution - Missense 10:48877188-48877188 + 587268 COSM1232523 c.9274C>G p.Q3092E Substitution - Missense 10:48976962-48976962 + TCGA-AR-A24H-01 COSM1474629 c.3486G>A p.W1162* Substitution - Nonsense 10:48780029-48780029 + SW948 COSM2144707 c.2413A>T p.S805C Substitution - Missense 10:48743502-48743502 + TCGA-CM-6162-01 COSM918506 c.1553G>A p.R518Q Substitution - Missense 10:48731533-48731533 + YURAY COSM918556 c.8130C>T p.F2710F Substitution - coding silent 10:48957281-48957281 + 37M COSM5584254 c.882C>T p.F294F Substitution - coding silent 10:48727570-48727570 + BN32T COSM1603487 c.5982+4A>G p.? Unknown 10:48822541-48822541 + ESCC-002T COSM3935066 c.1322C>T p.P441L Substitution - Missense 10:48731302-48731302 + 53M COSM4975282 c.6762C>T p.I2254I Substitution - coding silent 10:48873511-48873511 + RKO COSM2144953 c.8305G>A p.A2769T Substitution - Missense 10:48963923-48963923 + TCGA-AM-5820-01 COSM1348002 c.4119C>T p.G1373G Substitution - coding silent 10:48790779-48790779 + SJHGG043_D COSM4970843 c.5392G>A p.V1798M Substitution - Missense 10:48817296-48817296 + KM12 COSM4638806 c.2545C>T p.H849Y Substitution - Missense 10:48760432-48760432 + 19 COSM5747128 c.283G>A p.V95M Substitution - Missense 10:48970230-48970230 + CTS153 COSM5044950 c.1163T>C p.V388A Substitution - Missense 10:48731143-48731143 + PT52 COSM5940091 c.7423C>T p.R2475C Substitution - Missense 10:48897560-48897560 + SJMB016 COSM255581 c.487C>A p.L163I Substitution - Missense 10:48723463-48723463 + AA1934 COSM4168518 c.3805C>A p.Q1269K Substitution - Missense 10:48786867-48786867 + BD114T COSM5503612 c.3237C>T p.S1079S Substitution - coding silent 10:48778672-48778672 + ME100L COSM231205 c.970C>T p.R324W Substitution - Missense 10:48727658-48727658 + Region-22 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + S02292 COSM5687243 c.3439T>A p.C1147S Substitution - Missense 10:48779982-48779982 + 1731645 COSM327905 c.3519G>A p.M1173I Substitution - Missense 10:48780062-48780062 + CHC2034T COSM2144809 c.5500C>A p.Q1834K Substitution - Missense 10:48817404-48817404 + RK268_C01 COSM4945418 c.2925G>A p.L975L Substitution - coding silent 10:48776811-48776811 + ESCC_127 COSM5641430 c.7675G>A p.A2559T Substitution - Missense 10:48943375-48943375 + TCGA-B1-A47O-01 COSM4908351 c.4129A>C p.I1377L Substitution - Missense 10:48790789-48790789 + sysucc-1317T COSM5448021 c.3880A>G p.S1294G Substitution - Missense 10:48788601-48788601 + HT115 COSM2144991 c.601G>T p.A201S Substitution - Missense 10:48976875-48976875 + PD9541a COSM1348007 c.5608G>A p.A1870T Substitution - Missense 10:48820336-48820336 + TCGA-D8-A1JD-01 COSM1474631 c.6226C>G p.P2076A Substitution - Missense 10:48828782-48828782 + CSCC-7-T COSM4560916 c.38G>A p.G13E Substitution - Missense 10:48969103-48969103 + PDA_014 COSM4998725 c.1520C>A p.S507* Substitution - Nonsense 10:48731500-48731500 + Gp2D COSM2144712 c.2609C>T p.S870L Substitution - Missense 10:48774513-48774513 + YUDIVI COSM5370742 c.965G>A p.G322E Substitution - Missense 10:48982571-48982571 + RH18C COSM2144993 c.704G>A p.R235Q Substitution - Missense 10:48976978-48976978 + TCGA-AZ-4315-01 COSM1348023 c.7880T>C p.V2627A Substitution - Missense 10:48946872-48946872 + TCGA-EK-A2H0-01 COSM4818911 c.4318A>G p.I1440V Substitution - Missense 10:48796358-48796358 + TCGA-FU-A40J-01 COSM4844009 c.778C>T p.Q260* Substitution - Nonsense 10:48726067-48726067 + 8067240 COSM3769119 c.2603T>A p.V868E Substitution - Missense 10:48774507-48774507 + 041T COSM1728934 c.7122T>A p.C2374* Substitution - Nonsense 10:48877154-48877154 + TCGA-AA-3492-01 COSM1348014 c.7342C>A p.L2448M Substitution - Missense 10:48897479-48897479 + TCGA-AN-A046-01 COSM3807249 c.4060C>A p.Q1354K Substitution - Missense 10:48789979-48789979 + DLD1 COSM4621850 c.4088G>A p.S1363N Substitution - Missense 10:48790748-48790748 + 587376 COSM1232534 c.1504G>A p.D502N Substitution - Missense 10:48731484-48731484 + sysucc-773T COSM5460265 c.4560G>A p.P1520P Substitution - coding silent 10:48805335-48805335 + C086 COSM5541691 c.3664C>T p.R1222* Substitution - Nonsense 10:48786726-48786726 + HCT116 COSM4631951 c.412T>C p.Y138H Substitution - Missense 10:48721323-48721323 + 5T COSM3709847 c.510C>G p.C170W Substitution - Missense 10:48723486-48723486 + CHC1594T COSM4805046 c.8859C>A p.T2953T Substitution - coding silent 10:48970220-48970220 + 019T COSM1727890 c.3541A>T p.T1181S Substitution - Missense 10:48780084-48780084 + 8068600 COSM3769117 c.2425C>T p.R809C Substitution - Missense 10:48743514-48743514 + TCGA-B5-A11R-01 COSM918572 c.9347A>C p.K3116T Substitution - Missense 10:48982578-48982578 + 5T COSM3709857 c.506C>A p.T169N Substitution - Missense 10:48975025-48975025 + TCGA-D1-A16X-01 COSM918503 c.1253G>A p.R418Q Substitution - Missense 10:48731233-48731233 + PT48 COSM5932701 c.7220G>A p.G2407E Substitution - Missense 10:48890631-48890631 + 53M COSM2144656 c.1263C>T p.F421F Substitution - coding silent 10:48731243-48731243 + TCGA-AM-5820-01 COSM3751809 c.375G>A p.Q125Q Substitution - coding silent 10:48721286-48721286 + RMS80_ COSM4988763 c.2381C>A p.P794Q Substitution - Missense 10:48743470-48743470 + CSCC-49-T COSM4477604 c.2168C>T p.A723V Substitution - Missense 10:48743257-48743257 + 8066067 COSM3382898 c.5431C>A p.Q1811K Substitution - Missense 10:48817335-48817335 + TCGA-AX-A0J0-01 COSM918532 c.5633C>T p.T1878M Substitution - Missense 10:48820361-48820361 + C84 COSM1560762 c.6079C>A p.Q2027K Substitution - Missense 10:48826767-48826767 + ESCC_18 COSM5626028 c.1459C>G p.L487V Substitution - Missense 10:48731439-48731439 + CHC1594T COSM4805046 c.8859C>A p.T2953T Substitution - coding silent 10:48970220-48970220 + Au2 COSM5600851 c.7941G>A p.R2647R Substitution - coding silent 10:48946933-48946933 + 2492720 COSM5721502 c.716C>T p.T239I Substitution - Missense 10:48978319-48978319 + TCGA-D1-A17M-01 COSM918527 c.5391C>T p.S1797S Substitution - coding silent 10:48817295-48817295 + S02285 COSM5684413 c.6591G>T p.W2197C Substitution - Missense 10:48832637-48832637 + TCGA-F5-6864-01 COSM3415068 c.4265C>T p.A1422V Substitution - Missense 10:48796305-48796305 + GC8_T COSM146932 c.6100G>A p.G2034S Substitution - Missense 10:48826788-48826788 + TCGA-AM-5821-01 COSM3751812 c.640T>C p.S214P Substitution - Missense 10:48725929-48725929 + HCC066T COSM5820975 c.184-2A>T p.? Unknown 10:48970129-48970129 + OSCC-GB_00140111 COSM3709853 c.3749A>T p.E1250V Substitution - Missense 10:48786811-48786811 + TCGA-G4-6303-01 COSM1347992 c.2804C>T p.S935L Substitution - Missense 10:48775747-48775747 + tumor_4103141 COSM5949800 c.2355G>A p.K785K Substitution - coding silent 10:48743444-48743444 + DLD1 COSM2144972 c.8821G>C p.V2941L Substitution - Missense 10:48970182-48970182 + 2521259 COSM5890549 c.1117C>T p.H373Y Substitution - Missense 10:48729577-48729577 + TCGA-BG-A18C-01 COSM918539 c.7184C>G p.S2395C Substitution - Missense 10:48890595-48890595 + 61 COSM5738888 c.4727C>A p.P1576H Substitution - Missense 10:48806084-48806084 + HCT15 COSM2144831 c.6247C>T p.P2083S Substitution - Missense 10:48828803-48828803 + HCC004T COSM5803308 c.2193G>A p.L731L Substitution - coding silent 10:48743282-48743282 + CSCC-31-T COSM4500872 c.5752C>T p.Q1918* Substitution - Nonsense 10:48821104-48821104 + TCGA-EK-A2RJ-01 COSM4831926 c.1252C>G p.R418G Substitution - Missense 10:48731232-48731232 + LS180 COSM2144763 c.4154C>T p.A1385V Substitution - Missense 10:48790814-48790814 + 1N26-VS-1T26 COSM4973454 c.2136C>T p.A712A Substitution - coding silent 10:48743225-48743225 + TCGA-C8-A12Z-01 COSM427602 c.1704C>T p.H568H Substitution - coding silent 10:48735896-48735896 + COLO201 COSM918509 c.2736C>T p.L912L Substitution - coding silent 10:48774640-48774640 + HCC67 COSM3665754 c.8132-10T>C p.? Unknown 10:48959712-48959712 + CSCC-38-T COSM4478798 c.2268C>T p.L756L Substitution - coding silent 10:48743357-48743357 + 8057501 COSM3382898 c.5431C>A p.Q1811K Substitution - Missense 10:48817335-48817335 + TCGA-AC-A23H-01 COSM3807263 c.8197C>T p.R2733W Substitution - Missense 10:48959787-48959787 + YUSCA COSM5370726 c.3415G>A p.D1139N Substitution - Missense 10:48779958-48779958 + 8069168 COSM1348013 c.6886C>T p.R2296* Substitution - Nonsense 10:48873635-48873635 + SNUH_G10_S1 COSM3997993 c.4582T>C p.S1528P Substitution - Missense 10:48805357-48805357 + TCGA-BC-A10T-01 COSM4922937 c.6541T>C p.S2181P Substitution - Missense 10:48832587-48832587 + RKO COSM4647187 c.9109G>T p.G3037C Substitution - Missense 10:48976797-48976797 + 8047881 COSM3382885 c.435C>T p.Y145Y Substitution - coding silent 10:48721346-48721346 + S01861 COSM5670954 c.5756C>G p.S1919C Substitution - Missense 10:48821108-48821108 + CSCC-44-T COSM4558842 c.7827G>A p.L2609L Substitution - coding silent 10:48946117-48946117 + PD13422a COSM5795652 c.4960C>T p.P1654S Substitution - Missense 10:48810651-48810651 + TCGA-AA-3713-01 COSM1347999 c.3628G>A p.A1210T Substitution - Missense 10:48786690-48786690 + Gp5D COSM2144712 c.2609C>T p.S870L Substitution - Missense 10:48774513-48774513 + Region-3 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 + pfg127T COSM4754906 c.3085G>A p.V1029M Substitution - Missense 10:48776971-48776971 + pfg105T COSM4754907 c.3089A>T p.E1030V Substitution - Missense 10:48776975-48776975 + TCGA-BS-A0UV-01 COSM918538 c.7123C>T p.R2375W Substitution - Missense 10:48877155-48877155 + S02294 COSM5688672 c.7660A>G p.M2554V Substitution - Missense 10:48943360-48943360 + 61 COSM5738885 c.1236G>A p.M412I Substitution - Missense 10:48731216-48731216 + Region-24 COSM5748910 c.204C>G p.S68R Substitution - Missense 10:48709936-48709936 +

Mutation - CGAP UNIGENE CYTOBAND OMIM SNP Hs.287379 10q11.23 613316

Mutation - IntOGen Mutated from(ref) Mutated to(alt) Consequence Type AA Mutation CDS Mutation Chr Pos Cancer A C 3-UTRSNV . c.9552+6A>C 10 50190623 UCEC A G Synonymous p.L1384L c.4152A>G 10 49998857 UCEC A T Missense p.S91C c.271A>T 10 49928092 SCLC A T Synonymous p.S943S c.2829A>T 10 49983817 RCCC ATTCT - IntronicDeletion . c.6664-5450_6664-5446delATTCT 10 50069860 CLL CA - Frameshift p.H947Qfs*17 c.2841_2842delCA 10 49983821 UCEC C A IntronicSNV . c.6221+106C>A 10 50035060 PIA C A Missense p.L171I c.511C>A 10 49931532 UCEC C A Missense p.Q1800K c.5398C>A 10 50025347 UCEC C A Missense p.Q2628K c.7882C>A 10 50154919 HC C A Synonymous p.T2652T c.7956C>A 10 50154993 LUAD C G IntronicSNV . c.6664-16239C>G 10 50059071 PIA C G Missense p.P2076A c.6226C>G 10 50036827 BRCA C G Missense p.P2767A c.8299C>G 10 50171962 UCEC C G Missense p.S2395C c.7184C>G 10 50098640 UCEC C G Synonymous p.L661L c.1983C>G 10 49951117 BRCA C T Missense p.A1783V c.5348C>T 10 50025297 UCEC C T Missense p.A2360V c.7079C>T 10 50085156 RCCC C T Missense p.L2019F c.6055C>T 10 50034788 BRCA C T Missense p.R1009C c.3025C>T 10 49984956 PAAD C T Missense p.S1962F c.5885C>T 10 50030485 BRCA C T Missense p.S2177F c.6530C>T 10 50040621 BRCA C T Missense p.S2679L c.8036C>T 10 50165232 BRCA C T Missense p.T1878M c.5633C>T 10 50028406 UCEC C T Synonymous p.D2715D c.8145C>T 10 50167780 UCEC C T Synonymous p.F174F c.522C>T 10 49931543 BRCA C T Synonymous p.G1854G c.5562C>T 10 50028335 UCEC C T Synonymous p.H1164H c.3492C>T 10 49988080 RCCC C T Synonymous p.H568H c.1704C>T 10 49943941 BRCA C T Synonymous p.L1804L c.5412C>T 10 50025361 BRCA C T Synonymous p.S2030S c.6090C>T 10 50034823 RCCC C T Synonymous p.T1842T c.5526C>T 10 50028299 UCEC C T Synonymous p.T2558T c.7674C>T 10 50151419 UCEC G A Missense p.R518Q c.1553G>A 10 49939578 UCEC G A Missense p.V1805I c.5413G>A 10 50025362 BRCA G A Missense p.V400I c.1198G>A 10 49939223 CLL G A Nonsense p.W1162* c.3486G>A 10 49988074 BRCA G C Missense p.A1507P c.4519G>C 10 50013339 BRCA G C Missense p.D497H c.1489G>C 10 49939514 UCEC G C Missense p.Q1780H c.5340G>C 10 50022127 BRCA G T Missense p.D579Y c.1735G>T 10 49943972 SCLC G T Missense p.Q537H c.1611G>T 10 49942004 PAAD G T Missense p.R65L c.194G>T 10 49917971 SCLC T A 3-UTRSNV . c.9552+134T>A 10 50190751 MB T A Missense p.M1193K c.3578T>A 10 49994685 LUAD T A SpliceDonorSNV . c.7523+2T>A 10 50108353 RCCC T C IntronicSNV . c.2459+1042T>C 10 49952635 CLL T C Missense p.F306S c.917T>C 10 49935650 HC T C Missense p.L452P c.1355T>C 10 49939380 BRCA T G IntronicSNV . c.6663+3094T>G 10 50043848 HC