diff --git a/app/jobs/generate_tsvs.rb b/app/jobs/generate_tsvs.rb index f513234c..d7e02568 100644 --- a/app/jobs/generate_tsvs.rb +++ b/app/jobs/generate_tsvs.rb @@ -32,8 +32,8 @@ def ensure_downloads_directory_exists end def public_file_path(filename) - desination_filename = [filename_prefix, filename].join('-') - File.join(downloads_dir_path, desination_filename) + destination_filename = [filename_prefix, filename].join('-') + File.join(downloads_dir_path, destination_filename) end def downloads_dir_path diff --git a/app/jobs/generate_uniprot_mapping_tsv.rb b/app/jobs/generate_uniprot_mapping_tsv.rb new file mode 100644 index 00000000..ea5ec892 --- /dev/null +++ b/app/jobs/generate_uniprot_mapping_tsv.rb @@ -0,0 +1,45 @@ +class GenerateUniprotMappingTsv < ApplicationJob + def perform + ensure_downloads_directory_exists + p = UniprotMappingTsvPresenter + begin + tmp_file = tmp_file(p.file_name) + tmp_file.puts(p.headers.join("\t")) + + Gene.joins(variants: :evidence_items).distinct.find_each do |gene| + rows = p.rows_from_object(gene) + + rows.each do |r| + tmp_file.puts(r.join("\t")) + end + end + tmp_file.close + public_path = public_file_path(p.file_name) + FileUtils.cp(tmp_file.path, public_path) + File.chmod(0644, public_path) + ensure + tmp_file.unlink + end + end + + private + def tmp_file(filename) + Tempfile.new(filename, File.join(Rails.root, 'tmp')) + end + + def ensure_downloads_directory_exists + FileUtils.mkdir_p(downloads_dir_path) + end + + def tsvs_to_generate + [UniprotMappingTsvPresenter] + end + + def public_file_path(filename) + File.join(downloads_dir_path, filename) + end + + def downloads_dir_path + TsvRelease.downloads_path + end +end \ No newline at end of file diff --git a/app/presenters/uniprot_mapping_tsv_presenter.rb b/app/presenters/uniprot_mapping_tsv_presenter.rb new file mode 100644 index 00000000..6860153d --- /dev/null +++ b/app/presenters/uniprot_mapping_tsv_presenter.rb @@ -0,0 +1,32 @@ +class UniprotMappingTsvPresenter + def self.headers + [ + 'civic_name', + 'uniprot_name', + 'gene_overview' + ] + end + + def self.rows_from_object(gene) + swissprot_names = Array(Scrapers::MyGeneInfo.get_swissprot_name(gene)) + formatted_overview = formatted_overview_col(gene) + swissprot_names.map do |n| + if n == "N/A" + nil + else + [gene.name, n, formatted_overview] + end + end.compact + end + + def self.file_name + "UniprotMapping.tsv" + end + + def self.formatted_overview_col(gene) + eid_count = EvidenceItem.joins(variant: [:gene]).where("evidence_items.status != 'rejected'").where(variants: {gene: gene}).distinct.count + variant_count = gene.variants.joins(:evidence_items).where("evidence_items.status != 'rejected'").distinct.count + assertion_count = gene.assertions.where("status != 'rejected'").distinct.count + "#{assertion_count} clinical assertion(s) and #{eid_count} evidence item(s) for #{variant_count} variant(s) curated from #{gene.sources.size} published source(s)" + end +end diff --git a/config/database.yml b/config/database.yml index 33ea5846..95746b82 100644 --- a/config/database.yml +++ b/config/database.yml @@ -19,4 +19,4 @@ test: production: <<: *default pool: 20 - database: civic + database: civic \ No newline at end of file diff --git a/config/scheduled_tasks.yml b/config/scheduled_tasks.yml index 9f720f33..42f097b1 100644 --- a/config/scheduled_tasks.yml +++ b/config/scheduled_tasks.yml @@ -52,6 +52,12 @@ GenerateMonthlyTsvs: queue: default class: GenerateMonthlyTsvs +GenerateUniprotMappingTsv: + cron: '0 0 1 * *' + description: Update the UniprotMapping tsv + queue: default + class: GenerateUniprotMappingTsv + GenerateNightlyTsvs: cron: '0 0 * * *' description: Update the nightly TSV dumps diff --git a/lib/scrapers/my_gene_info.rb b/lib/scrapers/my_gene_info.rb index 39cb1d9d..4716c27e 100644 --- a/lib/scrapers/my_gene_info.rb +++ b/lib/scrapers/my_gene_info.rb @@ -36,5 +36,24 @@ def self.extract_entrez_id(data) def self.extract_official_name(data) data['hits'].first['name'] end + + private + def self.url_for_uniprot(gene_symbol) + "http://mygene.info/v2/query/?q=symbol:#{gene_symbol}&species=human&entrezonly=1&limit=1&fields=uniprot" + end + + def self.get_swissprot_name(gene) + resp = Util.make_get_request(url_for_uniprot(gene.name)) + data = JSON.parse(resp) + extract_swissprot_name(data) + end + + def self.extract_swissprot_name(data) + if data['hits'].first != nil and data['hits'].first['uniprot'] != nil + data['hits'].first['uniprot']['Swiss-Prot'] + else + 'N/A' + end + end end end diff --git a/public/downloads/UniprotMapping.tsv b/public/downloads/UniprotMapping.tsv new file mode 100644 index 00000000..c1df4996 --- /dev/null +++ b/public/downloads/UniprotMapping.tsv @@ -0,0 +1,455 @@ +civic_name uniprot_name gene_overview +ALK Q9UM73 2 clinical assertion(s) and 211 evidence item(s) for 53 variant(s) curated from 2 published source(s) +AKT1 P31749 0 clinical assertion(s) and 11 evidence item(s) for 4 variant(s) curated from 2 published source(s) +ARAF P10398 0 clinical assertion(s) and 4 evidence item(s) for 2 variant(s) curated from 2 published source(s) +ABL1 P00519 1 clinical assertion(s) and 527 evidence item(s) for 117 variant(s) curated from 2 published source(s) +BRAF P15056 8 clinical assertion(s) and 398 evidence item(s) for 108 variant(s) curated from 3 published source(s) +BRCA1 P38398 0 clinical assertion(s) and 40 evidence item(s) for 9 variant(s) curated from 2 published source(s) +BRCA2 P51587 0 clinical assertion(s) and 49 evidence item(s) for 12 variant(s) curated from 2 published source(s) +CCND1 P24385 0 clinical assertion(s) and 20 evidence item(s) for 3 variant(s) curated from 2 published source(s) +CCND2 P30279 0 clinical assertion(s) and 6 evidence item(s) for 3 variant(s) curated from 2 published source(s) +CCND3 P30281 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 2 published source(s) +CCNE1 P24864 0 clinical assertion(s) and 12 evidence item(s) for 3 variant(s) curated from 1 published source(s) +CDK6 Q00534 0 clinical assertion(s) and 5 evidence item(s) for 3 variant(s) curated from 2 published source(s) +CDK4 P11802 0 clinical assertion(s) and 7 evidence item(s) for 4 variant(s) curated from 2 published source(s) +CDKN2A P42771 0 clinical assertion(s) and 45 evidence item(s) for 22 variant(s) curated from 9 published source(s) +CDKN2A Q8N726 0 clinical assertion(s) and 45 evidence item(s) for 22 variant(s) curated from 9 published source(s) +CEBPA P49715 0 clinical assertion(s) and 8 evidence item(s) for 3 variant(s) curated from 3 published source(s) +PRKACA P17612 1 clinical assertion(s) and 4 evidence item(s) for 1 variant(s) curated from 2 published source(s) +DNMT3A Q9Y6K1 0 clinical assertion(s) and 37 evidence item(s) for 4 variant(s) curated from 2 published source(s) +EGFR P00533 2 clinical assertion(s) and 488 evidence item(s) for 156 variant(s) curated from 3 published source(s) +ERBB2 P04626 2 clinical assertion(s) and 161 evidence item(s) for 43 variant(s) curated from 3 published source(s) +ESR1 P03372 0 clinical assertion(s) and 22 evidence item(s) for 9 variant(s) curated from 2 published source(s) +FGFR2 P21802 0 clinical assertion(s) and 46 evidence item(s) for 19 variant(s) curated from 2 published source(s) +FGFR3 P22607 1 clinical assertion(s) and 61 evidence item(s) for 20 variant(s) curated from 2 published source(s) +FLT3 P36888 6 clinical assertion(s) and 172 evidence item(s) for 51 variant(s) curated from 2 published source(s) +GATA2 P23769 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 2 published source(s) +IDH1 O75874 0 clinical assertion(s) and 46 evidence item(s) for 7 variant(s) curated from 2 published source(s) +IDH2 P48735 0 clinical assertion(s) and 19 evidence item(s) for 4 variant(s) curated from 3 published source(s) +JAK2 O60674 0 clinical assertion(s) and 46 evidence item(s) for 25 variant(s) curated from 1 published source(s) +KIT P10721 0 clinical assertion(s) and 273 evidence item(s) for 92 variant(s) curated from 1 published source(s) +KRAS P01116 0 clinical assertion(s) and 407 evidence item(s) for 40 variant(s) curated from 1 published source(s) +MAP2K1 Q02750 0 clinical assertion(s) and 25 evidence item(s) for 18 variant(s) curated from 1 published source(s) +MEF2D Q14814 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +CSF1R P07333 0 clinical assertion(s) and 7 evidence item(s) for 3 variant(s) curated from 0 published source(s) +MGMT P16455 0 clinical assertion(s) and 14 evidence item(s) for 4 variant(s) curated from 0 published source(s) +NPM1 P06748 0 clinical assertion(s) and 35 evidence item(s) for 3 variant(s) curated from 2 published source(s) +NRAS P01111 0 clinical assertion(s) and 87 evidence item(s) for 18 variant(s) curated from 0 published source(s) +PIK3CA P42336 0 clinical assertion(s) and 184 evidence item(s) for 43 variant(s) curated from 0 published source(s) +PDGFRA P16234 0 clinical assertion(s) and 57 evidence item(s) for 25 variant(s) curated from 2 published source(s) +PML P29590 1 clinical assertion(s) and 12 evidence item(s) for 7 variant(s) curated from 2 published source(s) +PTEN P60484 0 clinical assertion(s) and 77 evidence item(s) for 17 variant(s) curated from 2 published source(s) +RET P07949 0 clinical assertion(s) and 51 evidence item(s) for 18 variant(s) curated from 2 published source(s) +RUNX1 Q01196 0 clinical assertion(s) and 19 evidence item(s) for 13 variant(s) curated from 1 published source(s) +SF3B1 O75533 0 clinical assertion(s) and 9 evidence item(s) for 3 variant(s) curated from 3 published source(s) +TP53 P04637 0 clinical assertion(s) and 225 evidence item(s) for 104 variant(s) curated from 1 published source(s) +TSC1 Q92574 0 clinical assertion(s) and 8 evidence item(s) for 3 variant(s) curated from 0 published source(s) +TSC2 P49815 0 clinical assertion(s) and 3 evidence item(s) for 2 variant(s) curated from 0 published source(s) +U2AF1 P0DN76 0 clinical assertion(s) and 8 evidence item(s) for 3 variant(s) curated from 2 published source(s) +U2AF1 Q01081 0 clinical assertion(s) and 8 evidence item(s) for 3 variant(s) curated from 2 published source(s) +WT1 P19544 0 clinical assertion(s) and 12 evidence item(s) for 3 variant(s) curated from 0 published source(s) +NOTCH1 P46531 0 clinical assertion(s) and 25 evidence item(s) for 18 variant(s) curated from 3 published source(s) +DDR2 Q16832 0 clinical assertion(s) and 7 evidence item(s) for 7 variant(s) curated from 0 published source(s) +MET P08581 0 clinical assertion(s) and 61 evidence item(s) for 19 variant(s) curated from 1 published source(s) +FLI1 Q01543 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 0 published source(s) +EWSR1 Q01844 0 clinical assertion(s) and 7 evidence item(s) for 4 variant(s) curated from 2 published source(s) +TET2 Q6N021 0 clinical assertion(s) and 6 evidence item(s) for 1 variant(s) curated from 0 published source(s) +FOXP1 Q9H334 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +REL Q04864 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +VHL P40337 6 clinical assertion(s) and 2351 evidence item(s) for 683 variant(s) curated from 4 published source(s) +BCL2 P10415 0 clinical assertion(s) and 28 evidence item(s) for 16 variant(s) curated from 0 published source(s) +IGF2 P01344 0 clinical assertion(s) and 4 evidence item(s) for 1 variant(s) curated from 0 published source(s) +AURKA O14965 0 clinical assertion(s) and 7 evidence item(s) for 3 variant(s) curated from 0 published source(s) +PBRM1 Q86U86 0 clinical assertion(s) and 8 evidence item(s) for 2 variant(s) curated from 0 published source(s) +EZH2 Q15910 0 clinical assertion(s) and 22 evidence item(s) for 10 variant(s) curated from 0 published source(s) +KMT2D O14686 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 0 published source(s) +BTK Q06187 0 clinical assertion(s) and 5 evidence item(s) for 4 variant(s) curated from 0 published source(s) +APC P25054 0 clinical assertion(s) and 3 evidence item(s) for 1 variant(s) curated from 0 published source(s) +AR P10275 0 clinical assertion(s) and 20 evidence item(s) for 10 variant(s) curated from 0 published source(s) +ASXL1 Q8IXJ9 0 clinical assertion(s) and 8 evidence item(s) for 2 variant(s) curated from 0 published source(s) +ATM Q13315 0 clinical assertion(s) and 46 evidence item(s) for 31 variant(s) curated from 2 published source(s) +BAP1 Q92560 0 clinical assertion(s) and 9 evidence item(s) for 4 variant(s) curated from 1 published source(s) +ERG P11308 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 0 published source(s) +FOXL2 P58012 0 clinical assertion(s) and 2 evidence item(s) for 1 variant(s) curated from 0 published source(s) +IKZF1 Q13422 1 clinical assertion(s) and 19 evidence item(s) for 3 variant(s) curated from 0 published source(s) +NCOA3 Q9Y6Q9 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 0 published source(s) +PAX8 Q06710 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 3 published source(s) +PGR P06401 0 clinical assertion(s) and 4 evidence item(s) for 1 variant(s) curated from 0 published source(s) +SMAD4 Q13485 0 clinical assertion(s) and 19 evidence item(s) for 10 variant(s) curated from 0 published source(s) +SMARCA4 P51532 0 clinical assertion(s) and 11 evidence item(s) for 4 variant(s) curated from 0 published source(s) +TERT O14746 0 clinical assertion(s) and 16 evidence item(s) for 5 variant(s) curated from 0 published source(s) +TTF1 Q15361 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +ABL2 P42684 0 clinical assertion(s) and 3 evidence item(s) for 1 variant(s) curated from 0 published source(s) +ACTA1 P68133 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +ACTL6A O96019 0 clinical assertion(s) and 3 evidence item(s) for 1 variant(s) curated from 0 published source(s) +ACVR1 Q04771 1 clinical assertion(s) and 9 evidence item(s) for 6 variant(s) curated from 0 published source(s) +PARP1 P09874 0 clinical assertion(s) and 3 evidence item(s) for 1 variant(s) curated from 0 published source(s) +AEBP1 Q8IUX7 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +AKT2 P31751 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 0 published source(s) +ALCAM Q13740 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +BIRC3 Q13489 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +BIRC5 O15392 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 0 published source(s) +AREG P15514 0 clinical assertion(s) and 5 evidence item(s) for 1 variant(s) curated from 0 published source(s) +RHOA P61586 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +ASCL1 P50553 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +ASNS P08243 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 0 published source(s) +ASS1 P00966 0 clinical assertion(s) and 2 evidence item(s) for 1 variant(s) curated from 0 published source(s) +ATR Q13535 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +ATRX P46100 0 clinical assertion(s) and 7 evidence item(s) for 3 variant(s) curated from 0 published source(s) +AXL P30530 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +B2M P61769 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 0 published source(s) +BARD1 Q99728 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +TNFRSF17 Q02223 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +CEACAM1 P13688 0 clinical assertion(s) and 3 evidence item(s) for 2 variant(s) curated from 0 published source(s) +PRDM1 O75626 0 clinical assertion(s) and 2 evidence item(s) for 1 variant(s) curated from 0 published source(s) +BLK P51451 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +CALR P27797 0 clinical assertion(s) and 8 evidence item(s) for 2 variant(s) curated from 0 published source(s) +CASP8 Q14790 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 0 published source(s) +CBFA2T3 O75081 0 clinical assertion(s) and 3 evidence item(s) for 1 variant(s) curated from 0 published source(s) +CBFB Q13951 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 2 published source(s) +CBL P22681 0 clinical assertion(s) and 8 evidence item(s) for 7 variant(s) curated from 0 published source(s) +CBLB Q13191 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +CD44 P16070 1 clinical assertion(s) and 17 evidence item(s) for 9 variant(s) curated from 0 published source(s) +CD79B P40259 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +CDH1 P12830 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +CDK2 P24941 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +CDK5 Q00535 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +CDK9 P50750 0 clinical assertion(s) and 3 evidence item(s) for 1 variant(s) curated from 0 published source(s) +CDKN1A P38936 0 clinical assertion(s) and 4 evidence item(s) for 4 variant(s) curated from 0 published source(s) +CDKN1B P46527 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 0 published source(s) +CDKN2B P42772 0 clinical assertion(s) and 3 evidence item(s) for 2 variant(s) curated from 0 published source(s) +CDX2 Q99626 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +CHEK1 O14757 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +CREBBP Q92793 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 0 published source(s) +CRKL P46109 0 clinical assertion(s) and 2 evidence item(s) for 1 variant(s) curated from 0 published source(s) +CSF1 P09603 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +CSF3R Q99062 0 clinical assertion(s) and 5 evidence item(s) for 2 variant(s) curated from 0 published source(s) +CTAG1B P78358 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +CTLA4 P16410 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 0 published source(s) +CTNNB1 P35222 1 clinical assertion(s) and 27 evidence item(s) for 12 variant(s) curated from 0 published source(s) +CYP2D6 P10635 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +DBI P07108 0 clinical assertion(s) and 0 evidence item(s) for 0 variant(s) curated from 0 published source(s) +DCC P43146 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +GADD45A P24522 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +DDIT3 P35638 0 clinical assertion(s) and 5 evidence item(s) for 2 variant(s) curated from 0 published source(s) +DEFA1 P59665 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +NQO1 P15559 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 0 published source(s) +DNMT1 P26358 0 clinical assertion(s) and 2 evidence item(s) for 1 variant(s) curated from 0 published source(s) +DPYD Q12882 0 clinical assertion(s) and 4 evidence item(s) for 4 variant(s) curated from 0 published source(s) +DRD5 P21918 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +DUSP6 Q16828 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +EFNA2 O43921 0 clinical assertion(s) and 0 evidence item(s) for 0 variant(s) curated from 0 published source(s) +EGF P01133 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +EIF1AX P47813 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +EIF4EBP1 Q13541 0 clinical assertion(s) and 2 evidence item(s) for 1 variant(s) curated from 0 published source(s) +EP300 Q09472 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 0 published source(s) +EPAS1 Q99814 0 clinical assertion(s) and 2 evidence item(s) for 1 variant(s) curated from 0 published source(s) +EPHB2 P29323 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 0 published source(s) +EPHB4 P54760 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +EPOR P19235 0 clinical assertion(s) and 3 evidence item(s) for 1 variant(s) curated from 0 published source(s) +ERBB3 P21860 0 clinical assertion(s) and 15 evidence item(s) for 6 variant(s) curated from 0 published source(s) +ERBB4 Q15303 0 clinical assertion(s) and 6 evidence item(s) for 4 variant(s) curated from 3 published source(s) +ERCC1 P07992 0 clinical assertion(s) and 9 evidence item(s) for 3 variant(s) curated from 0 published source(s) +ERCC2 P18074 0 clinical assertion(s) and 3 evidence item(s) for 2 variant(s) curated from 3 published source(s) +EREG O14944 0 clinical assertion(s) and 3 evidence item(s) for 1 variant(s) curated from 0 published source(s) +ERCC5 P28715 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +ETS2 P15036 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +ETV1 P50549 0 clinical assertion(s) and 3 evidence item(s) for 2 variant(s) curated from 0 published source(s) +ETV4 P43268 0 clinical assertion(s) and 3 evidence item(s) for 1 variant(s) curated from 0 published source(s) +ETV5 P41161 0 clinical assertion(s) and 2 evidence item(s) for 1 variant(s) curated from 0 published source(s) +ETV6 P41212 0 clinical assertion(s) and 7 evidence item(s) for 5 variant(s) curated from 0 published source(s) +MECOM Q03112 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +MECOM Q13465 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +FANCA O15360 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +FANCC Q00597 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +PTK2B Q14289 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 0 published source(s) +FCGR2A P12318 0 clinical assertion(s) and 2 evidence item(s) for 1 variant(s) curated from 0 published source(s) +FCGR2B P31994 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +FCGR2B P31995 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +FCGR3A P08637 0 clinical assertion(s) and 2 evidence item(s) for 1 variant(s) curated from 0 published source(s) +FGF2 P09038 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +FGF3 P11487 0 clinical assertion(s) and 2 evidence item(s) for 1 variant(s) curated from 2 published source(s) +FGF13 Q92913 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +FGFR1 P11362 0 clinical assertion(s) and 43 evidence item(s) for 11 variant(s) curated from 8 published source(s) +FGFR4 P22455 0 clinical assertion(s) and 9 evidence item(s) for 5 variant(s) curated from 0 published source(s) +FOXF1 Q12946 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +FOXC2 Q99958 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +FOXO1 Q12778 0 clinical assertion(s) and 5 evidence item(s) for 2 variant(s) curated from 0 published source(s) +FOXO3 O43524 0 clinical assertion(s) and 0 evidence item(s) for 0 variant(s) curated from 0 published source(s) +FLT4 P35916 0 clinical assertion(s) and 2 evidence item(s) for 1 variant(s) curated 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source(s) +NT5C2 P49902 0 clinical assertion(s) and 18 evidence item(s) for 6 variant(s) curated from 1 published source(s) +CIC Q96RK0 0 clinical assertion(s) and 11 evidence item(s) for 3 variant(s) curated from 0 published source(s) +DICER1 Q9UPY3 0 clinical assertion(s) and 19 evidence item(s) for 11 variant(s) curated from 0 published source(s) +SIRT1 Q96EB6 0 clinical assertion(s) and 2 evidence item(s) for 1 variant(s) curated from 0 published source(s) +BRD4 O60885 0 clinical assertion(s) and 6 evidence item(s) for 2 variant(s) curated from 0 published source(s) +CBLC Q9ULV8 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +PPP1R15A O75807 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +POT1 Q9NUX5 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +WWTR1 Q9GZV5 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +SETBP1 Q9Y6X0 0 clinical assertion(s) and 3 evidence item(s) for 3 variant(s) curated from 0 published source(s) +PDCD4 Q53EL6 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +MAGEH1 Q9H213 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +DROSHA Q9NRR4 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +TBK1 Q9UHD2 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +CD274 Q9NZQ7 0 clinical assertion(s) and 24 evidence item(s) for 1 variant(s) curated from 1 published source(s) +TLX3 O43711 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +CTAG2 O75638 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +FOXP3 Q9BZS1 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +CRBN Q96SW2 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +DDX41 Q9UJV9 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +SUFU Q9UMX1 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +CDK12 Q9NYV4 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 0 published source(s) +RSF1 Q96T23 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +LRP1B Q9NZR2 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 3 published source(s) +ERRFI1 Q9UJM3 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 0 published source(s) +ROBO4 Q8WZ75 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +UGT1A1 P22309 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 0 published source(s) +BCOR Q6W2J9 0 clinical assertion(s) and 3 evidence item(s) for 2 variant(s) curated from 0 published source(s) +NUDT15 Q9NV35 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +FBXW7 Q969H0 0 clinical assertion(s) and 12 evidence item(s) for 9 variant(s) curated from 0 published source(s) +DDX43 Q9NXZ2 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +CHD7 Q9P2D1 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +WDR12 Q9GZL7 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +PBK Q96KB5 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 0 published source(s) +POLE4 Q9NR33 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +KMT2C Q8NEZ4 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 0 published source(s) +PAPPA2 Q9BXP8 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +PBLD P30039 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +CRLF2 Q9HC73 0 clinical assertion(s) and 17 evidence item(s) for 5 variant(s) curated from 0 published source(s) +RBM15 Q96T37 0 clinical assertion(s) and 3 evidence item(s) for 1 variant(s) curated from 0 published source(s) +BIRC7 Q96CA5 0 clinical assertion(s) and 2 evidence item(s) for 1 variant(s) curated from 1 published source(s) +PALB2 Q86YC2 0 clinical assertion(s) and 9 evidence item(s) for 5 variant(s) curated from 0 published source(s) +PREX2 Q70Z35 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +PDCD1LG2 Q9BQ51 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +NECTIN4 Q96NY8 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +CARD11 Q9BXL7 0 clinical assertion(s) and 0 evidence item(s) for 0 variant(s) curated from 0 published source(s) +HAVCR2 Q8TDQ0 0 clinical assertion(s) and 2 evidence item(s) for 1 variant(s) curated from 0 published source(s) +ABCC10 Q5T3U5 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +IL33 O95760 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +SLFN11 Q7Z7L1 0 clinical assertion(s) and 3 evidence item(s) for 1 variant(s) curated from 0 published source(s) +RCSD1 Q6JBY9 0 clinical assertion(s) and 0 evidence item(s) for 0 variant(s) curated from 0 published source(s) +NAPRT Q6XQN6 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +VPS37A Q8NEZ2 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +PXDNL A1KZ92 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +AMER1 Q5JTC6 0 clinical assertion(s) and 0 evidence item(s) for 0 variant(s) curated from 0 published source(s) +DGKH Q86XP1 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +ARID2 Q68CP9 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +FLCN Q8NFG4 0 clinical assertion(s) and 2 evidence item(s) for 2 variant(s) curated from 0 published source(s) +RICTOR Q6R327 0 clinical assertion(s) and 4 evidence item(s) for 1 variant(s) curated from 0 published source(s) +RABL3 Q5HYI8 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +ATXN1L P0C7T5 0 clinical assertion(s) and 2 evidence item(s) for 1 variant(s) curated from 0 published source(s) +ECSCR Q19T08 0 clinical assertion(s) and 1 evidence item(s) for 1 variant(s) curated from 0 published source(s) +KLLN B2CW77 0 clinical assertion(s) and 2 evidence item(s) for 1 variant(s) curated from 0 published source(s) +DUX4 Q9UBX2 0 clinical assertion(s) and 3 evidence item(s) for 2 variant(s) curated from 0 published source(s)