### LOVD-version 3000-21d ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = RECQL5) # charset = UTF-8 ## Genes ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{name}}" "{{chromosome}}" "{{chrom_band}}" "{{imprinting}}" "{{refseq_genomic}}" "{{refseq_UD}}" "{{reference}}" "{{url_homepage}}" "{{url_external}}" "{{allow_download}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{note_index}}" "{{note_listing}}" "{{refseq}}" "{{refseq_url}}" "{{disclaimer}}" "{{disclaimer_text}}" "{{header}}" "{{header_align}}" "{{footer}}" "{{footer_align}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{updated_by}}" "{{updated_date}}" "RECQL5" "RecQ protein-like 5" "17" "q25" "unknown" "NG_029617.1" "UD_136020777640" "" "https://www.LOVD.nl/RECQL5" "" "1" "1" "9950" "9400" "603781" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "http://databases.lovd.nl/shared/refseq/RECQL5_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2016-12-10 13:18:20" "00006" "2018-05-23 12:03:34" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00017605" "RECQL5" "transcript variant 1" "001" "NM_004259.6" "" "NP_004250.4" "" "" "" "-160" "3553" "2976" "73663269" "73622925" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00000" "Healthy/Control" "Healthy individual / control" "" "" "" "" "00000" "2012-07-26 17:29:43" "" "" "00091" "CRC" "cancer, colorectal (CRC)" "114500" "" "" "" "00001" "2012-12-07 10:49:46" "00006" "2015-06-06 23:16:05" "04148" "BROVCA" "cancer, breast-ovarian, familial, susceptibility to" "" "" "" "" "00006" "2014-11-02 11:19:07" "00006" "2017-08-28 21:33:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 66 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{owned_by}}" "{{Individual/Reference}}" "{{Individual/Remarks}}" "{{Individual/Gender}}" "{{Individual/Consanguinity}}" "{{Individual/Origin/Geographic}}" "{{Individual/Age_of_death}}" "{{Individual/VIP}}" "{{Individual/Data_av}}" "{{Individual/Treatment}}" "{{Individual/Origin/Population}}" "{{Individual/Individual_ID}}" "00090714" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090715" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090716" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090717" "" "" "" "16" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090718" "" "" "" "4" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090719" "" "" "" "6" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090720" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090721" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090722" "" "" "" "2" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090723" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090724" "" "" "" "13" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090725" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090726" "" "" "" "3" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090727" "" "" "" "1" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090728" "" "" "" "3" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090729" "" "" "" "1" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090730" "" "" "" "8" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090731" "" "" "" "8" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090732" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090733" "" "" "" "2" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090734" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090735" "" "" "" "4" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090736" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090737" "" "" "" "1" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090738" "" "" "" "3" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090739" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090740" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090741" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090742" "" "" "" "1" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090743" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090744" "" "" "" "1" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090745" "" "" "" "3" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090746" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090747" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090748" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090749" "" "" "" "3" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090750" "" "" "" "2" "01816" "" "gene panel study on controls" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090751" "" "" "" "4" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090752" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090753" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090754" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090755" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090756" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090757" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090758" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090759" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090760" "" "" "" "2" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090761" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090762" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090763" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090764" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090765" "" "" "" "3" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090891" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00090892" "" "" "" "1" "01816" "" "gene panel study on colon cancer cases" "" "" "United States" "" "0" "data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database" "" "" "" "00164326" "" "" "" "4" "02474" "" "" "F" "no" "Spain" "" "0" "" "" "" "" "00164327" "" "" "" "2" "02474" "" "" "F" "no" "Spain" "" "0" "" "" "" "" "00164328" "" "" "" "1" "02474" "" "" "F" "no" "Spain" "" "0" "" "" "" "" "00164329" "" "" "" "1" "02474" "" "" "F" "no" "Spain" "" "0" "" "" "" "" "00164330" "" "" "" "2" "02474" "" "" "F" "no" "Spain" "" "0" "" "" "" "" "00164331" "" "" "" "2" "02474" "" "" "F" "no" "Spain" "" "0" "" "" "" "" "00164332" "" "" "" "1" "02474" "" "" "F" "?" "Spain" "" "0" "" "" "" "" "00164333" "" "" "" "1" "02474" "" "" "F" "?" "Spain" "" "0" "" "" "" "" "00164334" "" "" "" "1" "02474" "" "" "F" "?" "Spain" "" "0" "" "" "" "" "00164335" "" "" "" "1" "02474" "" "" "F" "?" "Spain" "" "0" "" "" "" "" "00164337" "" "" "" "1" "02474" "" "" "F" "?" "Spain" "" "0" "" "" "" "" "00164460" "" "" "" "1" "02474" "" "" "F" "?" "Spain" "" "0" "" "" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 66 "{{individualid}}" "{{diseaseid}}" "00090714" "00091" "00090715" "00091" "00090716" "00091" "00090717" "00091" "00090718" "00091" "00090719" "00091" "00090720" "00091" "00090721" "00091" "00090722" "00091" "00090723" "00091" "00090724" "00091" "00090725" "00091" "00090726" "00091" "00090727" "00000" "00090728" "00091" "00090729" "00000" "00090730" "00091" "00090731" "00091" "00090732" "00091" "00090733" "00091" "00090734" "00091" "00090735" "00091" "00090736" "00091" "00090737" "00000" "00090738" "00091" "00090739" "00091" "00090740" "00091" "00090741" "00091" "00090742" "00000" "00090743" "00091" "00090744" "00000" "00090745" "00091" "00090746" "00091" "00090747" "00091" "00090748" "00091" "00090749" "00091" "00090750" "00000" "00090751" "00091" "00090752" "00091" "00090753" "00091" "00090754" "00091" "00090755" "00091" "00090756" "00091" "00090757" "00091" "00090758" "00091" "00090759" "00091" "00090760" "00091" "00090761" "00091" "00090762" "00091" "00090763" "00091" "00090764" "00091" "00090765" "00091" "00090891" "00091" "00090892" "00091" "00164326" "04148" "00164327" "04148" "00164328" "04148" "00164329" "04148" "00164330" "04148" "00164331" "04148" "00164332" "04148" "00164333" "00000" "00164334" "00000" "00164335" "00000" "00164337" "00000" "00164460" "04148" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00091, 04148 ## Count = 8 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Diagnosis/Original}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Cysts}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Eye/Retina}}" "{{Phenotype/Neoplasm}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000129437" "04148" "00164327" "02474" "Familial" "" "Breast cancer only, BRCAx case" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129438" "04148" "00164326" "02474" "Familial" "" "Breast cancer only, BRCAx case" "" "50y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129439" "04148" "00164328" "02474" "Familial" "" "Breast cancer only, BRCAx case" "" "37y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129440" "04148" "00164329" "02474" "Familial" "" "Breast cancer only, BRCAx case" "" "36y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129441" "04148" "00164330" "02474" "Familial" "" "Breast cancer only, BRCAx" "" "45y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129442" "04148" "00164331" "02474" "Familial" "" "Breast cancer only, BRCAx case" "" "34y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129443" "04148" "00164332" "02474" "Familial" "" "Breast cancer only, BRCAx case" "" "39y" "" "" "" "" "" "" "" "" "" "" "" "" "" "0000129502" "04148" "00164460" "02474" "Familial" "" "Breast cancer only, BRCAx case" "" "" "" "" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 66 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000090859" "00090714" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090860" "00090715" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090861" "00090716" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090862" "00090717" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090863" "00090718" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090864" "00090719" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090865" "00090720" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090866" "00090721" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090867" "00090722" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090868" "00090723" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090869" "00090724" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090870" "00090725" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090871" "00090726" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090872" "00090727" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090873" "00090728" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090874" "00090729" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090875" "00090730" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090876" "00090731" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090877" "00090732" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090878" "00090733" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090879" "00090734" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090880" "00090735" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090881" "00090736" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090882" "00090737" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090883" "00090738" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090884" "00090739" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090885" "00090740" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090886" "00090741" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090887" "00090742" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090888" "00090743" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090889" "00090744" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090890" "00090745" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090891" "00090746" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090892" "00090747" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090893" "00090748" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090894" "00090749" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090895" "00090750" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090896" "00090751" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090897" "00090752" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090898" "00090753" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090899" "00090754" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090900" "00090755" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090901" "00090756" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090902" "00090757" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090903" "00090758" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090904" "00090759" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090905" "00090760" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090906" "00090761" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090907" "00090762" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090908" "00090763" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090909" "00090764" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000090910" "00090765" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000091036" "00090891" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000091037" "00090892" "1" "01816" "00006" "2016-11-21 16:06:29" "" "" "SEQ-NG-I" "DNA" "blood" "" "0000165193" "00164326" "1" "02474" "02474" "2018-05-14 02:08:35" "" "" "SEQ" "DNA" "Blood" "" "0000165194" "00164327" "1" "02474" "02474" "2018-05-14 05:21:17" "" "" "SEQ" "DNA" "Blood" "" "0000165195" "00164328" "1" "02474" "02474" "2018-05-14 05:55:36" "" "" "SEQ" "DNA" "Blood" "" "0000165196" "00164329" "1" "02474" "02474" "2018-05-14 06:09:33" "" "" "SEQ" "DNA" "Blood" "" "0000165197" "00164330" "1" "02474" "02474" "2018-05-14 06:23:58" "" "" "SEQ" "DNA" "Blood" "" "0000165198" "00164331" "1" "02474" "02474" "2018-05-14 06:48:58" "" "" "SEQ" "DNA" "Blood" "" "0000165199" "00164332" "1" "02474" "02474" "2018-05-14 07:00:39" "" "" "SEQ" "DNA" "Blood" "" "0000165200" "00164333" "1" "02474" "02474" "2018-05-14 07:08:57" "" "" "SEQ" "DNA" "Blood" "" "0000165201" "00164334" "1" "02474" "02474" "2018-05-14 07:18:12" "" "" "SEQ" "DNA" "Blood" "" "0000165202" "00164335" "1" "02474" "02474" "2018-05-14 07:24:40" "" "" "SEQ" "DNA" "Blood" "" "0000165203" "00164337" "1" "02474" "02474" "2018-05-14 07:50:31" "" "" "SEQ" "DNA" "Blood" "" "0000165328" "00164460" "1" "02474" "02474" "2018-05-22 06:18:24" "" "" "SEQ" "DNA" "Blood" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 66 "{{screeningid}}" "{{geneid}}" "0000090859" "RECQL5" "0000090860" "RECQL5" "0000090861" "RECQL5" "0000090862" "RECQL5" "0000090863" "RECQL5" "0000090864" "RECQL5" "0000090865" "RECQL5" "0000090866" "RECQL5" "0000090867" "RECQL5" "0000090868" "RECQL5" "0000090869" "RECQL5" "0000090870" "RECQL5" "0000090871" "RECQL5" "0000090872" "RECQL5" "0000090873" "RECQL5" "0000090874" "RECQL5" "0000090875" "RECQL5" "0000090876" "RECQL5" "0000090877" "RECQL5" "0000090878" "RECQL5" "0000090879" "RECQL5" "0000090880" "RECQL5" "0000090881" "RECQL5" "0000090882" "RECQL5" "0000090883" "RECQL5" "0000090884" "RECQL5" "0000090885" "RECQL5" "0000090886" "RECQL5" "0000090887" "RECQL5" "0000090888" "RECQL5" "0000090889" "RECQL5" "0000090890" "RECQL5" "0000090891" "RECQL5" "0000090892" "RECQL5" "0000090893" "RECQL5" "0000090894" "RECQL5" "0000090895" "RECQL5" "0000090896" "RECQL5" "0000090897" "RECQL5" "0000090898" "RECQL5" "0000090899" "RECQL5" "0000090900" "RECQL5" "0000090901" "RECQL5" "0000090902" "RECQL5" "0000090903" "RECQL5" "0000090904" "RECQL5" "0000090905" "RECQL5" "0000090906" "RECQL5" "0000090907" "RECQL5" "0000090908" "RECQL5" "0000090909" "RECQL5" "0000090910" "RECQL5" "0000091036" "RECQL5" "0000091037" "RECQL5" "0000165193" "RECQL5" "0000165194" "RECQL5" "0000165195" "RECQL5" "0000165196" "RECQL5" "0000165197" "RECQL5" "0000165198" "RECQL5" "0000165199" "RECQL5" "0000165200" "RECQL5" "0000165201" "RECQL5" "0000165202" "RECQL5" "0000165203" "RECQL5" "0000165328" "RECQL5" ## Variants_On_Genome ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Count = 80 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{average_frequency}}" "{{owned_by}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{VariantOnGenome/Restriction_site}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/VIP}}" "{{VariantOnGenome/Methylation}}" "{{VariantOnGenome/ISCN}}" "{{VariantOnGenome/DNA/hg38}}" "{{VariantOnGenome/ClinVar}}" "0000148988" "1" "50" "17" "73623531" "73623531" "" "0" "01816" "RECQL5_000048" "g.73623531A>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75627451A>C" "" "0000148989" "1" "50" "17" "73623557" "73623557" "" "0.0000806452" "01816" "RECQL5_000039" "g.73623557C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75627477C>T" "" "0000148990" "1" "50" "17" "73623704" "73623704" "" "0.000156863" "01816" "RECQL5_000040" "g.73623704G>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75627624G>C" "" "0000148991" "1" "50" "17" "73623750" "73623750" "" "0.00306026" "01816" "RECQL5_000041" "g.73623750C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75627670C>T" "" "0000148992" "1" "90" "17" "73623774" "73623774" "" "0.0000798977" "01816" "RECQL5_000042" "g.73623774T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75627694T>C" "" "0000148993" "1" "50" "17" "73624353" "73624353" "" "0.00231852" "01816" "RECQL5_000043" "g.73624353T>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75628273T>G" "" "0000148994" "1" "50" "17" "73624375" "73624375" "" "0.0000799105" "01816" "RECQL5_000044" "g.73624375C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75628295C>T" "" "0000148995" "1" "50" "17" "73624432" "73624432" "" "0" "01816" "RECQL5_000045" "g.73624432C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75628352C>T" "" "0000148996" "1" "50" "17" "73624440" "73624440" "" "0" "01816" "RECQL5_000046" "g.73624440G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75628360G>A" "" "0000148997" "1" "50" "17" "73624835" "73624835" "" "0.0000801667" "01816" "RECQL5_000047" "g.73624835G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75628755G>A" "" "0000148998" "1" "50" "17" "73625059" "73625059" "" "0.010626" "01816" "RECQL5_000021" "g.73625059G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75628979G>A" "" "0000148999" "1" "50" "17" "73625168" "73625168" "" "0" "01816" "RECQL5_000022" "g.73625168C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75629088C>T" "" "0000149000" "1" "50" "17" "73625173" "73625173" "" "0.00207434" "01816" "RECQL5_000023" "g.73625173A>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75629093A>G" "" "0000149001" "1" "50" "17" "73625179" "73625179" "" "0.00140705" "01816" "RECQL5_000024" "g.73625179G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75629099G>A" "" "0000149002" "1" "50" "17" "73625179" "73625179" "" "0.00140705" "01816" "RECQL5_000024" "g.73625179G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75629099G>A" "" "0000149003" "1" "50" "17" "73625207" "73625207" "" "0" "01816" "RECQL5_000025" "g.73625207G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75629127G>A" "" "0000149004" "1" "50" "17" "73625210" "73625210" "" "0.00608853" "01816" "RECQL5_000026" "g.73625210C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75629130C>T" "" "0000149005" "1" "50" "17" "73625231" "73625231" "" "0.00598655" "01816" "RECQL5_000001" "g.73625231G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75629151G>A" "" "0000149006" "1" "50" "17" "73625315" "73625315" "" "0.000166445" "01816" "RECQL5_000002" "g.73625315T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75629235T>C" "" "0000149007" "1" "50" "17" "73625357" "73625357" "" "0" "01816" "RECQL5_000003" "g.73625357C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75629277C>T" "" "0000149008" "1" "50" "17" "73625413" "73625413" "" "0" "01816" "RECQL5_000004" "g.73625413G>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75629333G>T" "" "0000149009" "1" "50" "17" "73625422" "73625422" "" "0.000173762" "01816" "RECQL5_000005" "g.73625422G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75629342G>A" "" "0000149010" "1" "50" "17" "73625443" "73625443" "" "0.0079596" "01816" "RECQL5_000006" "g.73625443C>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75629363C>G" "" "0000149011" "1" "50" "17" "73625443" "73625443" "" "0.0079596" "01816" "RECQL5_000006" "g.73625443C>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75629363C>G" "" "0000149012" "1" "50" "17" "73625509" "73625509" "" "0.00290939" "01816" "RECQL5_000007" "g.73625509G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75629429G>A" "" "0000149013" "1" "50" "17" "73625542" "73625542" "" "0" "01816" "RECQL5_000008" "g.73625542C>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75629462C>G" "" "0000149014" "1" "50" "17" "73625814" "73625814" "" "0.0000790014" "01816" "RECQL5_000009" "g.73625814T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75629734T>C" "" "0000149015" "1" "50" "17" "73625852" "73625852" "" "0.0101527" "01816" "RECQL5_000010" "g.73625852C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75629772C>T" "" "0000149016" "1" "50" "17" "73625852" "73625852" "" "0.0101527" "01816" "RECQL5_000010" "g.73625852C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75629772C>T" "" "0000149017" "1" "50" "17" "73626264" "73626266" "del" "0" "01816" "RECQL5_000011" "g.73626264_73626266del" "" "Thibodeau lab (Mayo Clinic)" "" "1812delAAG" "" "Germline" "" "" "0" "" "" "g.75630184_75630186del" "" "0000149018" "1" "50" "17" "73627234" "73627234" "" "0" "01816" "RECQL5_000012" "g.73627234C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75631154C>T" "" "0000149019" "1" "50" "17" "73627242" "73627242" "" "0.000773156" "01816" "RECQL5_000013" "g.73627242C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75631162C>T" "" "0000149020" "1" "50" "17" "73627319" "73627319" "" "0.000538959" "01816" "RECQL5_000014" "g.73627319C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75631239C>T" "" "0000149021" "1" "50" "17" "73627555" "73627555" "" "0.000161031" "01816" "RECQL5_000015" "g.73627555G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75631475G>A" "" "0000149022" "1" "50" "17" "73627603" "73627603" "" "0" "01816" "RECQL5_000016" "g.73627603C>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75631523C>A" "" "0000149023" "1" "50" "17" "73627632" "73627632" "" "0.000160077" "01816" "RECQL5_000017" "g.73627632C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75631552C>T" "" "0000149024" "1" "50" "17" "73627650" "73627650" "" "0.000400513" "01816" "RECQL5_000018" "g.73627650C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75631570C>T" "" "0000149025" "1" "50" "17" "73627650" "73627650" "" "0.000400513" "01816" "RECQL5_000018" "g.73627650C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75631570C>T" "" "0000149026" "1" "50" "17" "73627651" "73627651" "" "0.0000799488" "01816" "RECQL5_000019" "g.73627651G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75631571G>A" "" "0000149027" "1" "50" "17" "73627657" "73627657" "" "0.000239693" "01816" "RECQL5_000020" "g.73627657G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75631577G>A" "" "0000149028" "1" "50" "17" "73627717" "73627717" "" "0.000389529" "01816" "RECQL5_000027" "g.73627717C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75631637C>T" "" "0000149029" "1" "50" "17" "73646750" "73646750" "" "0" "01816" "RECQL5_000028" "g.73646750A>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75650670A>C" "" "0000149030" "1" "50" "17" "73647266" "73647266" "" "0" "01816" "RECQL5_000029" "g.73647266C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75651186C>T" "" "0000149031" "1" "50" "17" "73654449" "73654449" "" "0" "01816" "RECQL5_000030" "g.73654449G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75658369G>A" "" "0000149032" "1" "50" "17" "73654479" "73654479" "" "0" "01816" "RECQL5_000031" "g.73654479C>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75658399C>G" "" "0000149033" "1" "50" "17" "73658767" "73658767" "" "0" "01816" "RECQL5_000032" "g.73658767C>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75662687C>A" "" "0000149034" "1" "50" "17" "73658785" "73658785" "" "0.0000768876" "01816" "RECQL5_000033" "g.73658785C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75662705C>T" "" "0000149035" "1" "50" "17" "73658806" "73658806" "" "0" "01816" "RECQL5_000034" "g.73658806C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75662726C>T" "" "0000149036" "1" "50" "17" "73658888" "73658888" "" "0" "01816" "RECQL5_000035" "g.73658888G>A" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75662808G>A" "" "0000149037" "1" "50" "17" "73661132" "73661132" "" "0.0000768876" "01816" "RECQL5_000036" "g.73661132T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75665052T>C" "" "0000149038" "1" "50" "17" "73661163" "73661163" "" "0" "01816" "RECQL5_000037" "g.73661163T>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75665083T>C" "" "0000149039" "1" "50" "17" "73661193" "73661193" "" "0.00484392" "01816" "RECQL5_000038" "g.73661193G>C" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75665113G>C" "" "0000149165" "3" "50" "17" "73625443" "73625443" "" "0.0079596" "01816" "RECQL5_000006" "g.73625443C>G" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75629363C>G" "" "0000149166" "3" "50" "17" "73625852" "73625852" "" "0.0101527" "01816" "RECQL5_000010" "g.73625852C>T" "" "Thibodeau lab (Mayo Clinic)" "" "" "" "Germline" "" "" "0" "" "" "g.75629772C>T" "" "0000306929" "0" "30" "17" "73624375" "73624375" "subst" "0.0000799105" "02333" "RECQL5_000044" "g.73624375C>T" "" "" "" "RECQL5(NM_004259.6):c.2728G>A (p.V910I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000325619" "0" "30" "17" "73625179" "73625179" "subst" "0.00140705" "02333" "RECQL5_000024" "g.73625179G>A" "" "" "" "RECQL5(NM_004259.6):c.2324C>T (p.(Pro775Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000325620" "0" "30" "17" "73626931" "73626933" "dup" "0" "02333" "RECQL5_000049" "g.73626931_73626933dup" "" "" "" "RECQL5(NM_004259.6):c.1586-5_1586-4insCCC (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000325621" "0" "30" "17" "73626932" "73626933" "dup" "0" "02333" "RECQL5_000050" "g.73626932_73626933dup" "" "" "" "RECQL5(NM_004259.6):c.1586-5_1586-4insCC (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000325622" "0" "30" "17" "73657758" "73657758" "subst" "0" "02333" "RECQL5_000051" "g.73657758T>C" "" "" "" "RECQL5(NM_001003715.3):c.802A>G (p.(Thr268Ala))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "" "" "0000368836" "0" "90" "17" "73662508" "73662508" "subst" "0" "02474" "RECQL5_000052" "g.73662508C>T" "" "" "" "" "" "Germline" "no" "" "0" "" "" "" "" "0000368838" "0" "90" "17" "73658673" "73658673" "del" "0" "02474" "RECQL5_000053" "g.73658673del" "" "" "" "657delC" "" "Germline" "?" "" "0" "" "" "" "" "0000368839" "0" "90" "17" "73625110" "73625110" "dup" "0" "02474" "RECQL5_000054" "g.73625110dup" "" "" "" "2393dupC" "" "Germline" "?" "" "0" "" "" "" "" "0000368840" "0" "90" "17" "73661150" "73661150" "subst" "0" "02474" "RECQL5_000055" "g.73661150G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "" "" "0000368841" "0" "90" "17" "73658791" "73658791" "subst" "0.0000768876" "02474" "RECQL5_000056" "g.73658791C>T" "" "" "" "" "" "Germline" "no" "" "0" "" "" "" "" "0000368842" "0" "50" "17" "73626769" "73626769" "subst" "0" "02474" "RECQL5_000057" "g.73626769G>A" "" "" "" "" "" "Germline" "no" "" "0" "" "" "" "" "0000368843" "0" "50" "17" "73623552" "73623552" "subst" "0" "02474" "RECQL5_000058" "g.73623552G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "" "" "0000368844" "0" "90" "17" "73659025" "73659025" "subst" "0" "02474" "RECQL5_000059" "g.73659025G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "" "" "0000368845" "0" "50" "17" "73625270" "73625270" "subst" "0.0000825491" "02474" "RECQL5_000060" "g.73625270G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "" "" "0000368846" "0" "50" "17" "73627083" "73627083" "subst" "0" "02474" "RECQL5_000061" "g.73627083T>G" "" "" "" "" "" "Germline" "?" "" "0" "" "" "" "" "0000368990" "0" "50" "17" "73623720" "73623720" "subst" "0" "02474" "RECQL5_000063" "g.73623720G>C" "" "" "" "" "" "Germline" "?" "" "0" "" "" "" "" "0000368991" "0" "50" "17" "73647293" "73647293" "subst" "0" "02474" "RECQL5_000062" "g.73647293G>A" "" "" "" "" "" "Germline" "?" "" "0" "" "" "" "" "0000563056" "0" "30" "17" "73625207" "73625207" "subst" "0" "02333" "RECQL5_000025" "g.73625207G>A" "" "" "" "RECQL5(NM_004259.6):c.2296C>T (p.(Arg766Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000563057" "0" "30" "17" "73625357" "73625357" "subst" "0" "02333" "RECQL5_000064" "g.73625357C>A" "" "" "" "RECQL5(NM_004259.6):c.2146G>T (p.(Val716Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000563058" "0" "30" "17" "73625509" "73625509" "subst" "0.00290939" "02333" "RECQL5_000007" "g.73625509G>A" "" "" "" "RECQL5(NM_004259.6):c.1994C>T (p.(Pro665Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000563059" "0" "30" "17" "73626930" "73626933" "dup" "0" "02333" "RECQL5_000065" "g.73626930_73626933dup" "" "" "" "RECQL5(NM_004259.6):c.1586-5_1586-4insCCCC (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000563060" "0" "30" "17" "73626933" "73626933" "dup" "0" "02333" "RECQL5_000066" "g.73626933dup" "" "" "" "RECQL5(NM_004259.6):c.1586-5dup (p.?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000563061" "0" "30" "17" "73627242" "73627242" "subst" "0.000773156" "02333" "RECQL5_000013" "g.73627242C>T" "" "" "" "RECQL5(NM_004259.6):c.1536G>A (p.(Met512Ile))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000563062" "0" "30" "17" "73627585" "73627585" "subst" "0" "02333" "RECQL5_000067" "g.73627585C>T" "" "" "" "RECQL5(NM_004259.6):c.1393G>A (p.(Gly465Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000563063" "0" "50" "17" "73658614" "73658614" "subst" "0.0000768876" "02333" "RECQL5_000068" "g.73658614T>C" "" "" "" "RECQL5(NM_001003715.3):c.716A>G (p.(Tyr239Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "0000563064" "0" "30" "17" "73658807" "73658807" "subst" "0" "02333" "RECQL5_000069" "g.73658807G>A" "" "" "" "RECQL5(NM_001003715.3):c.523C>T (p.(Arg175Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes RECQL5 ## Count = 80 "{{id}}" "{{transcriptid}}" "{{effectid}}" "{{position_c_start}}" "{{position_c_start_intron}}" "{{position_c_end}}" "{{position_c_end_intron}}" "{{VariantOnTranscript/DNA}}" "{{VariantOnTranscript/RNA}}" "{{VariantOnTranscript/Protein}}" "{{VariantOnTranscript/Exon}}" "{{VariantOnTranscript/Classification}}" "0000148988" "00017605" "00" "2947" "0" "2947" "0" "c.2947T>G" "r.(?)" "p.(Trp983Gly)" "" "" "0000148989" "00017605" "00" "2921" "0" "2921" "0" "c.2921G>A" "r.(?)" "p.(Arg974Gln)" "" "" "0000148990" "00017605" "00" "2874" "0" "2874" "0" "c.2874C>G" "r.(?)" "p.(Ser958Arg)" "" "" "0000148991" "00017605" "00" "2828" "0" "2828" "0" "c.2828G>A" "r.(?)" "p.(Arg943His)" "" "" "0000148992" "00017605" "00" "2806" "-2" "2806" "-2" "c.2806-2A>G" "r.spl?" "p.?" "" "" "0000148993" "00017605" "00" "2750" "0" "2750" "0" "c.2750A>C" "r.(?)" "p.(Asn917Thr)" "" "" "0000148994" "00017605" "00" "2728" "0" "2728" "0" "c.2728G>A" "r.(?)" "p.(Val910Ile)" "" "" "0000148995" "00017605" "00" "2671" "0" "2671" "0" "c.2671G>A" "r.(?)" "p.(Glu891Lys)" "" "" "0000148996" "00017605" "00" "2663" "0" "2663" "0" "c.2663C>T" "r.(?)" "p.(Ser888Leu)" "" "" "0000148997" "00017605" "00" "2497" "0" "2497" "0" "c.2497C>T" "r.(?)" "p.(Pro833Ser)" "" "" "0000148998" "00017605" "00" "2444" "0" "2444" "0" "c.2444C>T" "r.(?)" "p.(Ser815Leu)" "" "" "0000148999" "00017605" "00" "2335" "0" "2335" "0" "c.2335G>A" "r.(?)" "p.(Ala779Thr)" "" "" "0000149000" "00017605" "00" "2330" "0" "2330" "0" "c.2330T>C" "r.(?)" "p.(Leu777Pro)" "" "" "0000149001" "00017605" "00" "2324" "0" "2324" "0" "c.2324C>T" "r.(?)" "p.(Pro775Leu)" "" "" "0000149002" "00017605" "00" "2324" "0" "2324" "0" "c.2324C>T" "r.(?)" "p.(Pro775Leu)" "" "" "0000149003" "00017605" "00" "2296" "0" "2296" "0" "c.2296C>T" "r.(?)" "p.(Arg766Cys)" "" "" "0000149004" "00017605" "00" "2293" "0" "2293" "0" "c.2293G>A" "r.(?)" "p.(Ala765Thr)" "" "" "0000149005" "00017605" "00" "2272" "0" "2272" "0" "c.2272C>T" "r.(?)" "p.(His758Tyr)" "" "" "0000149006" "00017605" "00" "2188" "0" "2188" "0" "c.2188A>G" "r.(?)" "p.(Lys730Glu)" "" "" "0000149007" "00017605" "00" "2146" "0" "2146" "0" "c.2146G>A" "r.(?)" "p.(Val716Ile)" "" "" "0000149008" "00017605" "00" "2090" "0" "2090" "0" "c.2090C>A" "r.(?)" "p.(Pro697His)" "" "" "0000149009" "00017605" "00" "2081" "0" "2081" "0" "c.2081C>T" "r.(?)" "p.(Pro694Leu)" "" "" "0000149010" "00017605" "00" "2060" "0" "2060" "0" "c.2060G>C" "r.(?)" "p.(Arg687Pro)" "" "" "0000149011" "00017605" "00" "2060" "0" "2060" "0" "c.2060G>C" "r.(?)" "p.(Arg687Pro)" "" "" "0000149012" "00017605" "00" "1994" "0" "1994" "0" "c.1994C>T" "r.(?)" "p.(Pro665Leu)" "" "" "0000149013" "00017605" "00" "1961" "0" "1961" "0" "c.1961G>C" "r.(?)" "p.(Arg654Pro)" "" "" "0000149014" "00017605" "00" "1921" "0" "1921" "0" "c.1921A>G" "r.(?)" "p.(Ile641Val)" "" "" "0000149015" "00017605" "00" "1883" "0" "1883" "0" "c.1883G>A" "r.(?)" "p.(Ser628Asn)" "" "" "0000149016" "00017605" "00" "1883" "0" "1883" "0" "c.1883G>A" "r.(?)" "p.(Ser628Asn)" "" "" "0000149017" "00017605" "50" "1810" "0" "1812" "0" "c.1810_1812del" "r.spl?" "p.(Lys604del)" "14" "" "0000149018" "00017605" "00" "1544" "0" "1544" "0" "c.1544G>A" "r.(?)" "p.(Arg515His)" "" "" "0000149019" "00017605" "00" "1536" "0" "1536" "0" "c.1536G>A" "r.(?)" "p.(Met512Ile)" "" "" "0000149020" "00017605" "00" "1459" "0" "1459" "0" "c.1459G>A" "r.(?)" "p.(Gly487Ser)" "" "" "0000149021" "00017605" "00" "1423" "0" "1423" "0" "c.1423C>T" "r.(?)" "p.(Arg475Cys)" "" "" "0000149022" "00017605" "00" "1375" "0" "1375" "0" "c.1375G>T" "r.(?)" "p.(Gly459Trp)" "" "" "0000149023" "00017605" "00" "1346" "0" "1346" "0" "c.1346G>A" "r.(?)" "p.(Arg449His)" "" "" "0000149024" "00017605" "00" "1328" "0" "1328" "0" "c.1328G>A" "r.(?)" "p.(Arg443Gln)" "" "" "0000149025" "00017605" "00" "1328" "0" "1328" "0" "c.1328G>A" "r.(?)" "p.(Arg443Gln)" "" "" "0000149026" "00017605" "00" "1327" "0" "1327" "0" "c.1327C>T" "r.(?)" "p.(Arg443Trp)" "" "" "0000149027" "00017605" "00" "1321" "0" "1321" "0" "c.1321C>T" "r.(?)" "p.(Arg441Trp)" "" "" "0000149028" "00017605" "00" "1261" "0" "1261" "0" "c.1261G>A" "r.(?)" "p.(Gly421Arg)" "" "" "0000149029" "00017605" "00" "1229" "516" "1229" "516" "c.1229+516T>G" "r.(=)" "p.(=)" "" "" "0000149030" "00017605" "00" "1229" "0" "1229" "0" "c.1229G>A" "r.(?)" "p.(Gly410Glu)" "" "" "0000149031" "00017605" "00" "1078" "0" "1078" "0" "c.1078C>T" "r.(?)" "p.(Arg360Cys)" "" "" "0000149032" "00017605" "00" "1048" "0" "1048" "0" "c.1048G>C" "r.(?)" "p.(Ala350Pro)" "" "" "0000149033" "00017605" "00" "563" "0" "563" "0" "c.563G>T" "r.(?)" "p.(Cys188Phe)" "" "" "0000149034" "00017605" "00" "545" "0" "545" "0" "c.545G>A" "r.(?)" "p.(Arg182His)" "" "" "0000149035" "00017605" "00" "524" "0" "524" "0" "c.524G>A" "r.(?)" "p.(Arg175His)" "" "" "0000149036" "00017605" "00" "442" "0" "442" "0" "c.442C>T" "r.(?)" "p.(Arg148Cys)" "" "" "0000149037" "00017605" "00" "251" "0" "251" "0" "c.251A>G" "r.(?)" "p.(Gln84Arg)" "" "" "0000149038" "00017605" "00" "220" "0" "220" "0" "c.220A>G" "r.(?)" "p.(Ile74Val)" "" "" "0000149039" "00017605" "00" "190" "0" "190" "0" "c.190C>G" "r.(?)" "p.(Leu64Val)" "" "" "0000149165" "00017605" "00" "2060" "0" "2060" "0" "c.2060G>C" "r.(?)" "p.(Arg687Pro)" "" "" "0000149166" "00017605" "00" "1883" "0" "1883" "0" "c.1883G>A" "r.(?)" "p.(Ser628Asn)" "" "" "0000306929" "00017605" "30" "2728" "0" "2728" "0" "c.2728G>A" "r.(?)" "p.(Val910Ile)" "" "likely benign" "0000325619" "00017605" "30" "2324" "0" "2324" "0" "c.2324C>T" "r.(?)" "p.(Pro775Leu)" "" "likely benign" "0000325620" "00017605" "30" "1586" "-7" "1586" "-5" "c.1586-7_1586-5dup" "r.spl?" "p.?" "" "likely benign" "0000325621" "00017605" "30" "1586" "-6" "1586" "-5" "c.1586-6_1586-5dup" "r.spl?" "p.?" "" "likely benign" "0000325622" "00017605" "30" "802" "0" "802" "0" "c.802A>G" "r.(?)" "p.(Thr268Ala)" "" "likely benign" "0000368836" "00017605" "90" "130" "0" "130" "0" "c.130G>A" "r.spl?" "p.(Gly44Ser)" "2" "" "0000368838" "00017605" "90" "657" "0" "657" "0" "c.657del" "r.(?)" "p.(Cys220Alafs*15)" "4" "" "0000368839" "00017605" "90" "2393" "0" "2393" "0" "c.2393dup" "r.(?)" "p.(Met799Aspfs*24)" "16" "" "0000368840" "00017605" "90" "233" "0" "233" "0" "c.233C>T" "r.(?)" "p.(Pro78Leu)" "3" "" "0000368841" "00017605" "90" "539" "0" "539" "0" "c.539G>A" "r.(?)" "p.(Arg180His)" "4" "" "0000368842" "00017605" "50" "1648" "0" "1648" "0" "c.1648C>T" "r.(?)" "p.(Arg550Trp)" "13" "" "0000368843" "00017605" "50" "2926" "0" "2926" "0" "c.2926C>T" "r.(?)" "p.(Arg976Trp)" "20" "" "0000368844" "00017605" "90" "305" "0" "305" "0" "c.305C>T" "r.(?)" "p.(Ser102Leu)" "4" "" "0000368845" "00017605" "50" "2233" "0" "2233" "0" "c.2233C>T" "r.(?)" "p.(Arg745Trp)" "16" "" "0000368846" "00017605" "50" "1556" "0" "1556" "0" "c.1556A>C" "r.(?)" "p.(Asp519Ala)" "11" "" "0000368990" "00017605" "50" "2858" "0" "2858" "0" "c.2858C>G" "r.(?)" "p.(Thr953Ser)" "" "" "0000368991" "00017605" "50" "1202" "0" "1202" "0" "c.1202C>T" "r.(?)" "p.(Ala401Val)" "" "" "0000563056" "00017605" "30" "2296" "0" "2296" "0" "c.2296C>T" "r.(?)" "p.(Arg766Cys)" "" "likely benign" "0000563057" "00017605" "30" "2146" "0" "2146" "0" "c.2146G>T" "r.(?)" "p.(Val716Phe)" "" "likely benign" "0000563058" "00017605" "30" "1994" "0" "1994" "0" "c.1994C>T" "r.(?)" "p.(Pro665Leu)" "" "likely benign" "0000563059" "00017605" "30" "1586" "-8" "1586" "-5" "c.1586-8_1586-5dup" "r.spl?" "p.?" "" "likely benign" "0000563060" "00017605" "30" "1586" "-5" "1586" "-5" "c.1586-5dup" "r.spl?" "p.?" "" "likely benign" "0000563061" "00017605" "30" "1536" "0" "1536" "0" "c.1536G>A" "r.(?)" "p.(Met512Ile)" "" "likely benign" "0000563062" "00017605" "30" "1393" "0" "1393" "0" "c.1393G>A" "r.(?)" "p.(Gly465Ser)" "" "likely benign" "0000563063" "00017605" "50" "716" "0" "716" "0" "c.716A>G" "r.(?)" "p.(Tyr239Cys)" "" "VUS" "0000563064" "00017605" "30" "523" "0" "523" "0" "c.523C>T" "r.(?)" "p.(Arg175Cys)" "" "likely benign" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 66 "{{screeningid}}" "{{variantid}}" "0000090859" "0000148988" "0000090860" "0000148989" "0000090861" "0000148990" "0000090862" "0000148991" "0000090863" "0000148992" "0000090864" "0000148993" "0000090865" "0000148994" "0000090866" "0000148995" "0000090867" "0000148996" "0000090868" "0000148997" "0000090869" "0000148998" "0000090870" "0000148999" "0000090871" "0000149000" "0000090872" "0000149001" "0000090873" "0000149002" "0000090874" "0000149003" "0000090875" "0000149004" "0000090876" "0000149005" "0000090877" "0000149006" "0000090878" "0000149007" "0000090879" "0000149008" "0000090880" "0000149009" "0000090881" "0000149010" "0000090882" "0000149011" "0000090883" "0000149012" "0000090884" "0000149013" "0000090885" "0000149014" "0000090886" "0000149015" "0000090887" "0000149016" "0000090888" "0000149017" "0000090889" "0000149018" "0000090890" "0000149019" "0000090891" "0000149020" "0000090892" "0000149021" "0000090893" "0000149022" "0000090894" "0000149023" "0000090895" "0000149024" "0000090896" "0000149025" "0000090897" "0000149026" "0000090898" "0000149027" "0000090899" "0000149028" "0000090900" "0000149029" "0000090901" "0000149030" "0000090902" "0000149031" "0000090903" "0000149032" "0000090904" "0000149033" "0000090905" "0000149034" "0000090906" "0000149035" "0000090907" "0000149036" "0000090908" "0000149037" "0000090909" "0000149038" "0000090910" "0000149039" "0000091036" "0000149165" "0000091037" "0000149166" "0000165193" "0000368836" "0000165194" "0000368838" "0000165195" "0000368839" "0000165196" "0000368840" "0000165197" "0000368841" "0000165198" "0000368842" "0000165199" "0000368843" "0000165200" "0000368844" "0000165201" "0000368845" "0000165202" "0000368846" "0000165203" "0000368990" "0000165328" "0000368991"