### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TERC) # 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}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{show_orphanet}}" "{{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}}" "TERC" "telomerase RNA component" "3" "q26.2" "unknown" "NG_016363.1" "UD_134407604182" "" "http://www.LOVD.nl/TERC" "The TERC (TR) Telomerase Database " "1" "11727" "7012" "602322" "1" "1" "1" "1" "alias TR\r\nEstablishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland. As a start data were copied from the Telomerase Database TERC (TR) gene." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2017-06-19 11:59:48" "00000" "2025-05-05 21:14:00" ## 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}}" "00020977" "TERC" "telomerase RNA component" "001" "NR_001566.1" "" "" "" "" "" "1" "451" "451" "169482848" "169482398" "" "0000-00-00 00:00:00" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 7 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{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" "" "" "00119" "DKC" "dyskeratosis congenita (DKC)" "" "" "" "" "" "00015" "2013-03-14 10:08:13" "00006" "2015-12-08 23:54:35" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" "01292" "DKCA1" "dyskeratosis congenita, autosomal dominant, type 1 (DKCA-1)" "AD" "127550" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "02823" "anemia" "anemia, aplastic, incl. susceptibility to" "" "609135" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2017-02-28 09:08:20" "03719" "PFBMFT2" "fibrosis, pulmonary, and/or bone marrow failure, telomere-related, type 2 (PFBMFT-2)" "AD" "614743" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32" "05292" "IMD" "immunodeficiency (IMD)" "" "" "" "" "" "00006" "2017-06-24 18:16:32" "00006" "2017-10-24 17:01:05" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 2 "{{geneid}}" "{{diseaseid}}" "TERC" "01292" "TERC" "03719" ## Individuals ## Do not remove or alter this header ## ## Count = 60 "{{id}}" "{{fatherid}}" "{{motherid}}" "{{panelid}}" "{{panel_size}}" "{{license}}" "{{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}}" "00105073" "" "" "" "1" "" "00006" "{PMID:Field 2006:16825992}" "" "" "" "" "" "0" "" "" "" "?" "00105074" "" "" "" "1" "" "00006" "{PMID:Keith 2004:15212690}" "" "" "" "" "" "0" "" "" "" "?" "00105075" "" "" "" "1" "" "00006" "{PMID:Ortmann 2006:16670076}" "" "" "" "" "" "0" "" "" "" "?" "00105076" "" "" "" "1" "" "00006" "{PMID:Du 2009:18931339}" "" "" "" "" "" "0" "" "" "" "?" "00105077" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2001:11574891}" "" "" "" "" "" "0" "" "" "" "?" "00105078" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "?" "00105079" "" "" "" "1" "" "00006" "{PMID:Calado 2009:19936245}" "" "" "" "" "" "0" "" "" "" "?" "00105080" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2002:12090986}" "" "" "" "" "" "0" "" "" "" "?" "00105081" "" "" "" "1" "" "00006" "{PMID:Marrone 2007:17640862}" "" "" "" "" "" "0" "" "" "" "?" "00105082" "" "" "" "1" "" "00006" "{PMID:Fogarty 2003:14630445}" "" "" "" "" "" "0" "" "" "" "?" "00105083" "" "" "" "1" "" "00006" "{PMID:Ortmann 2006:16670076}" "" "" "" "" "" "0" "" "" "" "?" "00105084" "" "" "" "1" "" "00006" "{PMID:Ly 2005:15550482}" "" "" "" "" "" "0" "" "" "" "?" "00105085" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "?" "00105086" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2004:15098033}" "" "" "" "" "" "0" "" "" "" "?" "00105087" "" "" "" "1" "" "00006" "{PMID:Parry 2011:21436073}" "" "" "" "" "" "0" "" "" "" "?" "00105088" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "?" "00105089" "" "" "" "1" "" "00006" "{PMID:Marrone 2007:17640862}" "" "" "" "" "" "0" "" "" "" "?" "00105090" "" "" "" "1" "" "00006" "{PMID:Marrone 2007:17640862}" "" "" "" "" "" "0" "" "" "" "?" "00105091" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "?" "00105092" "" "" "" "1" "" "00006" "{PMID:Fogarty 2003:14630445}" "" "" "" "" "" "0" "" "" "" "?" "00105093" "" "" "" "1" "" "00006" "{PMID:Ly 2005:15886322}" "" "" "" "" "" "0" "" "" "" "?" "00105094" "" "" "" "1" "" "00006" "{PMID:Yamaguchi 2003:12676774}" "" "" "" "" "" "0" "" "" "" "?" "00105095" "" "" "" "1" "" "00006" "{PMID:Marrone 2004:15319288}" "" "" "" "" "" "0" "" "" "" "?" "00105096" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "?" "00105097" "" "" "" "1" "" "00006" "{PMID:Xin 2007:16990594}" "" "" "" "" "" "0" "" "" "" "?" "00105098" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "?" "00105099" "" "" "" "1" "" "00006" "{PMID:Marrone 2007:17640862}" "" "" "" "" "" "0" "" "" "" "?" "00105100" "" "" "" "1" "" "00006" "{PMID:Yamaguchi 2003:12676774}" "" "" "" "" "" "0" "" "" "" "?" "00105101" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2004:15098033}" "" "" "" "" "" "0" "" "" "" "?" "00105102" "" "" "" "1" "" "00006" "{PMID:Yamaguchi 2003:12676774}" "" "" "" "" "" "0" "" "" "" "?" "00105103" "" "" "" "1" "" "00006" "{PMID:Takeughi 2007:17936651}" "" "" "" "" "" "0" "" "" "" "?" "00105104" "" "" "" "1" "" "00006" "{PMID:Alder 2008:18753630}" "" "" "" "" "" "0" "" "" "" "?" "00105105" "" "" "" "1" "" "00006" "{PMID:Calado 2009:19936245}" "" "" "" "" "" "0" "" "" "" "?" "00105106" "" "" "" "1" "" "00006" "{PMID:Du 2009:18931339}" "" "" "" "" "" "0" "" "" "" "?" "00105107" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "?" "00105108" "" "" "" "1" "" "00006" "{PMID:Alder 2011:21757622}" "" "" "" "" "" "0" "" "" "" "?" "00105109" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "?" "00105110" "" "" "" "1" "" "00006" "{PMID:Dokal and Vulliamy 2003:14556776}" "" "" "" "" "" "0" "" "" "" "?" "00105111" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2001:11574891}" "" "" "" "" "" "0" "" "" "" "?" "00105112" "" "" "" "1" "" "00006" "{PMID:Ly 2005:15886322}" "" "" "" "" "" "0" "" "" "" "?" "00105113" "" "" "" "1" "" "00006" "{PMID:Tsakiri 2007:17460043}" "" "" "" "" "" "0" "" "" "" "?" "00105114" "" "" "" "1" "" "00006" "{PMID:Ly 2005:15550482}" "" "" "" "" "" "0" "" "" "" "?" "00105115" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2001:11574891}" "" "" "" "" "" "0" "" "" "" "?" "00105116" "" "" "" "1" "" "00006" "{PMID:Yamaguchi 2003:12676774}" "" "" "" "" "" "0" "" "" "" "?" "00105117" "" "" "" "1" "" "00006" "{PMID:Yamaguchi 2003:12676774}" "" "" "" "" "" "0" "" "" "" "?" "00105118" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2006:16332973}" "" "" "" "" "" "0" "" "" "" "?" "00105119" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2006:16332973}" "" "" "" "" "" "0" "" "" "" "?" "00105120" "" "" "" "1" "" "00006" "{PMID:Marrone 2007:17640862}" "" "" "" "" "" "0" "" "" "" "?" "00105121" "" "" "" "1" "" "00006" "{PMID:Jongmans 2012:22341970}" "" "" "" "" "" "0" "" "" "" "?" "00105122" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2002:12090986}" "" "" "" "" "" "0" "" "" "" "?" "00105123" "" "" "" "1" "" "00006" "{PMID:Yamaguchi 2003:12676774}" "" "" "" "" "" "0" "" "" "" "?" "00105124" "" "" "" "1" "" "00006" "{PMID:Marrone 2004:15319288}" "" "" "" "" "" "0" "" "" "" "?" "00105125" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "?" "00105126" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2002:12090986}" "" "" "" "" "" "0" "" "" "" "?" "00105127" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2006:16332973}" "" "" "" "" "" "0" "" "" "" "?" "00105128" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "?" "00105129" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2011:21931702}" "" "" "" "" "" "0" "" "" "" "?" "00105130" "" "" "" "1" "" "00006" "{PMID:Vulliamy 2004:15098033}" "" "" "" "" "" "0" "" "" "" "?" "00105131" "" "" "" "1" "" "00006" "{PMID:Armanios 2007:17392301}" "" "" "" "" "" "0" "" "" "" "?" "00433087" "" "" "" "1" "" "00006" "{PMID:Stray-Pedersen 2017:27577878}" "2-generation family, 1 affected, unaffected parents" "M" "" "Norway" "" "0" "" "" "" "Pat63,1" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 60 "{{individualid}}" "{{diseaseid}}" "00105073" "00198" "00105074" "00198" "00105075" "00198" "00105076" "00119" "00105077" "01292" "00105078" "02823" "00105079" "00198" "00105080" "02823" "00105081" "02823" "00105082" "02823" "00105083" "02823" "00105084" "02823" "00105085" "02823" "00105086" "01292" "00105087" "01292" "00105088" "02823" "00105089" "02823" "00105090" "02823" "00105091" "02823" "00105092" "02823" "00105093" "01292" "00105094" "00000" "00105095" "00000" "00105096" "00198" "00105097" "02823" "00105098" "00198" "00105099" "02823" "00105100" "02823" "00105101" "01292" "00105102" "00198" "00105103" "00198" "00105104" "03719" "00105105" "00198" "00105106" "00198" "00105107" "02823" "00105108" "03719" "00105109" "02823" "00105110" "00119" "00105111" "01292" "00105112" "01292" "00105113" "01292" "00105114" "00198" "00105115" "01292" "00105116" "02823" "00105117" "02823" "00105118" "00119" "00105119" "00198" "00105120" "03719" "00105121" "00119" "00105122" "00000" "00105123" "00000" "00105124" "00000" "00105125" "02823" "00105126" "02823" "00105127" "02823" "00105128" "02823" "00105129" "00119" "00105130" "01292" "00105131" "03719" "00433087" "05292" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00000, 00119, 00198, 01292, 02823, 03719, 05292 ## Count = 55 "{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Protein}}" "{{Phenotype/Tumor/MSI}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}" "{{Phenotype/Diagnosis/Criteria}}" "0000082974" "00198" "00105073" "00006" "Familial, autosomal dominant" "" "myelodysplastic syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000082975" "00198" "00105074" "00006" "Familial, autosomal dominant" "" "paroxysmal nocturnal hemoglobinuria, menorrhagia, anemia, and thrombocytopenia" "" "" "" "" "" "" "" "" "" "" "" "0000082976" "00198" "00105075" "00006" "Familial, autosomal dominant" "" "paroxysmal nocturnal hemoglobinuria, menorrhagia, anemia, and thrombocytopenia" "" "" "" "" "" "" "" "" "" "" "" "0000082977" "00119" "00105076" "00006" "Familial, autosomal dominant" "" "dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000082978" "01292" "00105077" "00006" "Familial, autosomal dominant" "" "autosomal dominant dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000082979" "02823" "00105078" "00006" "Familial, autosomal dominant" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000082980" "00198" "00105079" "00006" "Familial, autosomal dominant" "" "pancytopenia" "" "" "" "" "" "" "" "" "" "" "" "0000082981" "02823" "00105080" "00006" "Familial, autosomal dominant" "" "aplastic anemia, myelodysplasia and leukemia" "" "" "" "" "" "" "" "" "" "" "" "0000082982" "02823" "00105081" "00006" "Familial, autosomal dominant" "" "aplastic anemia, myelodysplasia and leukemia" "" "" "" "" "" "" "" "" "" "" "" "0000082983" "02823" "00105082" "00006" "Familial, autosomal dominant" "" "aplastic anemia and thrombocytopenia" "" "" "" "" "" "" "" "" "" "" "" "0000082984" "02823" "00105083" "00006" "Familial, autosomal dominant" "" "aplastic anemia and thrombocytopenia" "" "" "" "" "" "" "" "" "" "" "" "0000082985" "02823" "00105084" "00006" "Familial, autosomal dominant" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000082986" "02823" "00105085" "00006" "Familial, autosomal dominant" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000082987" "01292" "00105086" "00006" "Familial, autosomal dominant" "" "autosomal dominant dyskeratosis congenita and aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000082988" "01292" "00105087" "00006" "Familial, autosomal dominant" "" "autosomal dominant dyskeratosis congenita and aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000082989" "02823" "00105088" "00006" "Familial, autosomal dominant" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000082990" "02823" "00105089" "00006" "Familial, autosomal dominant" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000082991" "02823" "00105090" "00006" "Familial, autosomal dominant" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000082992" "02823" "00105091" "00006" "Familial, autosomal dominant" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000082993" "02823" "00105092" "00006" "Familial, autosomal dominant" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000082994" "01292" "00105093" "00006" "Familial, autosomal dominant" "" "autosomal dominant dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000082995" "00198" "00105096" "00006" "Familial, autosomal dominant" "" "hoyeraal hreidarrson syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000082996" "02823" "00105097" "00006" "Familial, autosomal dominant" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000082997" "00198" "00105098" "00006" "Familial, autosomal dominant" "" "myelodysplastic syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000082998" "02823" "00105099" "00006" "Familial, autosomal dominant" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000082999" "02823" "00105100" "00006" "Familial, autosomal dominant" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083000" "01292" "00105101" "00006" "Familial, autosomal dominant" "" "autosomal dominant dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000083001" "00198" "00105102" "00006" "Familial, autosomal dominant" "" "myelodysplasia and refractory anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083002" "00198" "00105103" "00006" "Familial, autosomal dominant" "" "myelodysplastic syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000083003" "03719" "00105104" "00006" "Familial, autosomal dominant" "" "idiopathic pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083004" "00198" "00105105" "00006" "Familial, autosomal dominant" "" "pancytopenia" "" "" "" "" "" "" "" "" "" "" "" "0000083005" "00198" "00105106" "00006" "Familial, autosomal dominant" "" "hypoplastic myelodysplastic syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000083006" "02823" "00105107" "00006" "Familial, autosomal dominant" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083007" "03719" "00105108" "00006" "Familial, autosomal dominant" "" "idiopathic pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083008" "02823" "00105109" "00006" "Familial, autosomal dominant" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083009" "00119" "00105110" "00006" "Familial, autosomal dominant" "" "dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000083010" "01292" "00105111" "00006" "Familial, autosomal dominant" "" "autosomal dominant dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000083011" "01292" "00105112" "00006" "Familial, autosomal dominant" "" "autosomal dominant dyskeratosis congenita, idiopathic pulmonary fibrosis, and dyspnea" "" "" "" "" "" "" "" "" "" "" "" "0000083012" "01292" "00105113" "00006" "Familial, autosomal dominant" "" "autosomal dominant dyskeratosis congenita, idiopathic pulmonary fibrosis, and dyspnea" "" "" "" "" "" "" "" "" "" "" "" "0000083013" "00198" "00105114" "00006" "Familial, autosomal dominant" "" "essential thrombocythemia" "" "" "" "" "" "" "" "" "" "" "" "0000083014" "01292" "00105115" "00006" "Familial, autosomal dominant" "" "autosomal dominant dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000083015" "02823" "00105116" "00006" "Familial, autosomal dominant" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083016" "02823" "00105117" "00006" "Familial, autosomal dominant" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083017" "00119" "00105118" "00006" "Familial, autosomal dominant" "" "dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000083018" "00198" "00105119" "00006" "Familial, autosomal dominant" "" "myelodysplasia and dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000083019" "03719" "00105120" "00006" "Familial, autosomal dominant" "" "pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000083020" "00119" "00105121" "00006" "Familial, autosomal dominant" "" "dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000083021" "02823" "00105125" "00006" "Familial, autosomal dominant" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083022" "02823" "00105126" "00006" "Familial, autosomal dominant" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083023" "02823" "00105127" "00006" "Familial, autosomal dominant" "" "aplastic anemia" "" "" "" "" "" "" "" "" "" "" "" "0000083024" "02823" "00105128" "00006" "Familial, autosomal dominant" "" "aplastic anemia, myelodysplastic syndrome" "" "" "" "" "" "" "" "" "" "" "" "0000083025" "00119" "00105129" "00006" "Familial, autosomal dominant" "" "dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000083026" "01292" "00105130" "00006" "Familial, autosomal dominant" "" "autosomal dominant dyskeratosis congenita" "" "" "" "" "" "" "" "" "" "" "" "0000083027" "03719" "00105131" "00006" "Familial, autosomal dominant" "" "idiopathic pulmonary fibrosis" "" "" "" "" "" "" "" "" "" "" "" "0000323613" "05292" "00433087" "00006" "Familial, autosomal dominant" "49y" "neutrophil defect or congenital condition with bone marrow failure such as dyskeratosis congenita and Fanconi-like phenotype, anemia and thrombocytopenia" "" "" "" "" "" "" "" "" "" "primary immunodeficiency disease" "" ## Screenings ## Do not remove or alter this header ## ## Count = 60 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000105546" "00105073" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105547" "00105074" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105548" "00105075" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105549" "00105076" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105550" "00105077" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105551" "00105078" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105552" "00105079" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105553" "00105080" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105554" "00105081" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105555" "00105082" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105556" "00105083" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105557" "00105084" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105558" "00105085" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105559" "00105086" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105560" "00105087" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105561" "00105088" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105562" "00105089" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105563" "00105090" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105564" "00105091" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105565" "00105092" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105566" "00105093" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105567" "00105094" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105568" "00105095" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105569" "00105096" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105570" "00105097" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105571" "00105098" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105572" "00105099" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105573" "00105100" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105574" "00105101" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105575" "00105102" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105576" "00105103" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105577" "00105104" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105578" "00105105" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105579" "00105106" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105580" "00105107" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105581" "00105108" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105582" "00105109" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105583" "00105110" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105584" "00105111" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105585" "00105112" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105586" "00105113" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105587" "00105114" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105588" "00105115" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105589" "00105116" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105590" "00105117" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105591" "00105118" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105592" "00105119" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105593" "00105120" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105594" "00105121" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105595" "00105122" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105596" "00105123" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105597" "00105124" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105598" "00105125" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105599" "00105126" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105600" "00105127" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105601" "00105128" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105602" "00105129" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105603" "00105130" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000105604" "00105131" "1" "00006" "01921" "2017-06-19 11:54:25" "" "" "SEQ" "DNA" "" "" "0000434518" "00433087" "1" "00006" "00006" "2023-02-28 15:41:53" "" "" "arrayCGH;SEQ;SEQ-NG" "DNA" "" "" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 59 "{{screeningid}}" "{{geneid}}" "0000105546" "TERC" "0000105547" "TERC" "0000105548" "TERC" "0000105549" "TERC" "0000105550" "TERC" "0000105551" "TERC" "0000105552" "TERC" "0000105553" "TERC" "0000105554" "TERC" "0000105555" "TERC" "0000105556" "TERC" "0000105557" "TERC" "0000105558" "TERC" "0000105559" "TERC" "0000105560" "TERC" "0000105561" "TERC" "0000105562" "TERC" "0000105563" "TERC" "0000105564" "TERC" "0000105565" "TERC" "0000105566" "TERC" "0000105567" "TERC" "0000105568" "TERC" "0000105569" "TERC" "0000105570" "TERC" "0000105571" "TERC" "0000105572" "TERC" "0000105573" "TERC" "0000105574" "TERC" "0000105575" "TERC" "0000105576" "TERC" "0000105577" "TERC" "0000105578" "TERC" "0000105579" "TERC" "0000105580" "TERC" "0000105581" "TERC" "0000105582" "TERC" "0000105583" "TERC" "0000105584" "TERC" "0000105585" "TERC" "0000105586" "TERC" "0000105587" "TERC" "0000105588" "TERC" "0000105589" "TERC" "0000105590" "TERC" "0000105591" "TERC" "0000105592" "TERC" "0000105593" "TERC" "0000105594" "TERC" "0000105595" "TERC" "0000105596" "TERC" "0000105597" "TERC" "0000105598" "TERC" "0000105599" "TERC" "0000105600" "TERC" "0000105601" "TERC" "0000105602" "TERC" "0000105603" "TERC" "0000105604" "TERC" ## 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 = 78 "{{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}}" "{{VariantOnGenome/ClinicalClassification}}" "{{VariantOnGenome/ClinicalClassification/Method}}" "0000170996" "1" "90" "3" "169483088" "169483088" "del" "0" "00006" "TERC_000051" "g.169483088del" "" "{PMID:Field 2006:16825992}" "" "-240delCT" "variant 5\' of gene, {DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169765300del" "" "pathogenic" "" "0000170997" "1" "90" "3" "169482947" "169482947" "subst" "0.000854261" "00006" "TERC_000050" "g.169482947G>C" "" "{PMID:Keith 2004:15212690}" "" "" "variant 5\' of gene, {DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169765159G>C" "" "pathogenic" "" "0000170998" "1" "90" "3" "169482947" "169482947" "subst" "0.000854261" "00006" "TERC_000050" "g.169482947G>C" "" "{PMID:Ortmann 2006:16670076}" "" "" "variant 5\' of gene, {DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169765159G>C" "" "pathogenic" "" "0000170999" "1" "90" "3" "169482749" "169482749" "subst" "0" "00006" "TERC_000032" "g.169482749A>T" "" "{PMID:Du 2009:18931339}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764961A>T" "" "pathogenic" "" "0000171000" "1" "90" "3" "169482741" "169482742" "delins" "0" "00006" "TERC_000030" "g.169482741_169482742delinsCT" "" "{PMID:Vulliamy 2001:11574891}" "" "107_108gc>ag" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764953_169764954delinsCT" "" "pathogenic" "" "0000171001" "1" "90" "3" "169482742" "169482742" "subst" "0" "00006" "TERC_000031" "g.169482742C>A" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764954C>A" "" "pathogenic" "" "0000171002" "1" "90" "3" "169482728" "169482742" "del" "0" "00006" "TERC_000026" "g.169482728_169482742del" "" "{PMID:Calado 2009:19936245}" "" "109_123del15" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764940_169764954del" "" "pathogenic" "" "0000171003" "1" "90" "3" "169482738" "169482741" "del" "0" "00006" "TERC_000029" "g.169482738_169482741del" "" "{PMID:Vulliamy 2002:12090986}" "" "110_113delgacu" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764950_169764953del" "" "pathogenic" "" "0000171004" "1" "90" "3" "169482738" "169482741" "del" "0" "00006" "TERC_000029" "g.169482738_169482741del" "" "{PMID:Marrone 2007:17640862}" "" "110_113delgacu" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764950_169764953del" "" "pathogenic" "" "0000171005" "1" "90" "3" "169482733" "169482733" "subst" "0" "00006" "TERC_000028" "g.169482733G>A" "" "{PMID:Fogarty 2003:14630445}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764945G>A" "" "pathogenic" "" "0000171006" "1" "90" "3" "169482733" "169482733" "subst" "0" "00006" "TERC_000028" "g.169482733G>A" "" "{PMID:Ortmann 2006:16670076}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764945G>A" "" "pathogenic" "" "0000171007" "1" "90" "3" "169482732" "169482732" "subst" "0" "00006" "TERC_000027" "g.169482732T>G" "" "{PMID:Ly 2005:15550482}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764944T>G" "" "pathogenic" "" "0000171008" "1" "90" "3" "169482723" "169482723" "subst" "0" "00006" "TERC_000025" "g.169482723T>C" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764935T>C" "" "pathogenic" "" "0000171009" "1" "90" "3" "169482706" "169482706" "subst" "0" "00006" "TERC_000024" "g.169482706C>T" "" "{PMID:Vulliamy 2004:15098033}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764918C>T" "" "pathogenic" "" "0000171010" "1" "90" "3" "169482706" "169482706" "subst" "0" "00006" "TERC_000024" "g.169482706C>T" "" "{PMID:Parry 2011:21436073}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764918C>T" "" "pathogenic" "" "0000171011" "1" "90" "3" "169482673" "169482673" "subst" "0" "00006" "TERC_000023" "g.169482673T>G" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764885T>G" "" "pathogenic" "" "0000171012" "1" "90" "3" "169482671" "169482671" "subst" "0" "00006" "TERC_000022" "g.169482671C>T" "" "{PMID:Marrone 2007:17640862}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764883C>T" "" "pathogenic" "" "0000171013" "1" "90" "3" "169482669" "169482669" "subst" "0" "00006" "TERC_000021" "g.169482669G>A" "" "{PMID:Marrone 2007:17640862}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764881G>A" "" "pathogenic" "" "0000171014" "1" "90" "3" "169482667" "169482667" "subst" "0" "00006" "TERC_000020" "g.169482667C>T" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764879C>T" "" "pathogenic" "" "0000171015" "1" "90" "3" "169482645" "169482645" "subst" "0" "00006" "TERC_000019" "g.169482645G>C" "" "{PMID:Fogarty 2003:14630445}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764857G>C" "" "pathogenic" "" "0000171016" "1" "90" "3" "169482625" "169482638" "del" "0" "00006" "TERC_000017" "g.169482625_169482638del" "" "{PMID:Ly 2005:15886322}" "" "216_229del14" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764837_169764850del" "" "pathogenic" "" "0000171017" "1" "10" "3" "169482621" "169482621" "subst" "0.00112399" "00006" "TERC_000018" "g.169482621C>T" "" "{PMID:Yamaguchi 2003:12676774}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764833C>T" "" "benign" "" "0000171018" "1" "10" "3" "169482621" "169482621" "subst" "0.00112399" "00006" "TERC_000018" "g.169482621C>T" "" "{PMID:Marrone 2004:15319288}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764833C>T" "" "benign" "" "0000171019" "1" "90" "3" "169482607" "169482607" "subst" "0" "00006" "TERC_000016" "g.169482607G>A" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764819G>A" "" "pathogenic" "" "0000171020" "1" "90" "3" "169482817" "169482823" "del" "0" "00006" "TERC_000048" "g.169482817_169482823del" "" "{PMID:Xin 2007:16990594}" "" "28_34del7" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169765029_169765035del" "" "pathogenic" "" "0000171021" "1" "90" "3" "169482562" "169482562" "subst" "0" "00006" "TERC_000015" "g.169482562G>C" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764774G>C" "" "pathogenic" "" "0000171022" "1" "90" "3" "169482847" "169482847" "subst" "0" "00006" "TERC_000049" "g.169482847C>G" "" "{PMID:Marrone 2007:17640862}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169765059C>G" "" "pathogenic" "" "0000171023" "1" "90" "3" "169482544" "169482544" "subst" "0" "00006" "TERC_000014" "g.169482544C>T" "" "{PMID:Yamaguchi 2003:12676774}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764756C>T" "" "pathogenic" "" "0000171024" "1" "90" "3" "169482398" "169482533" "del" "0" "00006" "TERC_000002" "g.169482398_169482533del" "" "{PMID:Vulliamy 2004:15098033}" "" "316_451del136" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764610_169764745del" "" "pathogenic" "" "0000171025" "1" "90" "3" "169482527" "169482527" "subst" "0" "00006" "TERC_000013" "g.169482527C>T" "" "{PMID:Yamaguchi 2003:12676774}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764739C>T" "" "pathogenic" "" "0000171026" "1" "90" "3" "169482526" "169482526" "subst" "0" "00006" "TERC_000012" "g.169482526G>A" "" "{PMID:Takeughi 2007:17936651}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764738G>A" "" "pathogenic" "" "0000171027" "1" "90" "3" "169482524" "169482524" "subst" "0" "00006" "TERC_000011" "g.169482524C>A" "" "{PMID:Alder 2008:18753630}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764736C>A" "" "pathogenic" "" "0000171028" "1" "90" "3" "169482489" "169482508" "del" "0" "00006" "TERC_000010" "g.169482489_169482508del" "" "{PMID:Calado 2009:19936245}" "" "341_360del20" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764701_169764720del" "" "pathogenic" "" "0000171029" "1" "90" "3" "169482814" "169482814" "subst" "2.1873E-5" "00006" "TERC_000047" "g.169482814G>A" "" "{PMID:Du 2009:18931339}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169765026G>A" "" "pathogenic" "" "0000171030" "1" "90" "3" "169482813" "169482813" "subst" "0" "00006" "TERC_000046" "g.169482813G>A" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169765025G>A" "" "pathogenic" "" "0000171031" "1" "90" "3" "169482474" "169482476" "del" "0" "00006" "TERC_000008" "g.169482474_169482476del" "" "{PMID:Alder 2011:21757622}" "" "375_377delgga" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764686_169764688del" "" "pathogenic" "" "0000171032" "1" "90" "3" "169482472" "169482472" "subst" "0" "00006" "TERC_000009" "g.169482472T>C" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764684T>C" "" "pathogenic" "" "0000171033" "1" "90" "3" "169482434" "169482471" "del" "0" "00006" "TERC_000005" "g.169482434_169482471del" "" "{PMID:Dokal and Vulliamy 2003:14556776}" "" "378_415del38" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764646_169764683del" "" "pathogenic" "" "0000171034" "1" "90" "3" "169482398" "169482471" "del" "0" "00006" "TERC_000003" "g.169482398_169482471del" "" "{PMID:Vulliamy 2001:11574891}" "" "378_451del74" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764610_169764683del" "" "pathogenic" "" "0000171035" "1" "90" "3" "169482812" "169482812" "subst" "2.62304E-5" "00006" "TERC_000045" "g.169482812T>C" "" "{PMID:Ly 2005:15886322}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169765024T>C" "" "pathogenic" "" "0000171036" "1" "90" "3" "169482812" "169482812" "subst" "2.62304E-5" "00006" "TERC_000045" "g.169482812T>C" "" "{PMID:Tsakiri 2007:17460043}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169765024T>C" "" "pathogenic" "" "0000171037" "1" "90" "3" "169482459" "169482460" "del" "0" "00006" "TERC_000007" "g.169482459_169482460del" "" "{PMID:Ly 2005:15550482}" "" "389_390delcc" "{DB-TEL:tr}\r\nVariant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.169764671_169764672del" "" "pathogenic" "" "0000171038" "1" "90" "3" "169482441" "169482441" "subst" "0" "00006" "TERC_000006" "g.169482441G>C" "" "{PMID:Vulliamy 2001:11574891}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764653G>C" "" "pathogenic" "" "0000171039" "1" "90" "3" "169482399" "169482399" "subst" "5.77427E-6" "00006" "TERC_000004" "g.169482399C>T" "" "{PMID:Yamaguchi 2003:12676774}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764611C>T" "" "pathogenic" "" "0000171040" "1" "90" "3" "169482382" "169482382" "subst" "0" "00006" "TERC_000001" "g.169482382A>G" "" "{PMID:Yamaguchi 2003:12676774}" "" "" "variant 3\' of gene, {DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764594A>G" "" "pathogenic" "" "0000171041" "1" "90" "3" "169482801" "169482801" "subst" "0" "00006" "TERC_000044" "g.169482801T>C" "" "{PMID:Vulliamy 2006:16332973}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169765013T>C" "" "pathogenic" "" "0000171042" "1" "90" "3" "169482794" "169482797" "del" "0" "00006" "TERC_000043" "g.169482794_169482797del" "" "{PMID:Vulliamy 2006:16332973}" "" "52_55delcuaa" "{DB-TEL:tr}\r\nVariant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.169765006_169765009del" "" "pathogenic" "" "0000171043" "1" "90" "3" "169482763" "169482797" "del" "0" "00006" "TERC_000036" "g.169482763_169482797del" "" "{PMID:Marrone 2007:17640862}" "" "52_86del35" "{DB-TEL:tr}\r\nVariant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.169764975_169765009del" "" "pathogenic" "" "0000171044" "1" "90" "3" "169482794" "169482797" "del" "0" "00006" "TERC_000042" "g.169482794_169482797del" "" "{PMID:Jongmans 2012:22341970}" "" "54_57delaacu" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169765006_169765009del" "" "pathogenic" "" "0000171045" "1" "10" "3" "169482791" "169482791" "subst" "0.00377485" "00006" "TERC_000041" "g.169482791C>T" "" "{PMID:Vulliamy 2002:12090986}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169765003C>T" "" "benign" "" "0000171046" "1" "10" "3" "169482791" "169482791" "subst" "0.00377485" "00006" "TERC_000041" "g.169482791C>T" "" "{PMID:Yamaguchi 2003:12676774}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169765003C>T" "" "benign" "" "0000171047" "1" "10" "3" "169482791" "169482791" "subst" "0.00377485" "00006" "TERC_000041" "g.169482791C>T" "" "{PMID:Marrone 2004:15319288}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169765003C>T" "" "benign" "" "0000171048" "1" "90" "3" "169482782" "169482782" "subst" "0" "00006" "TERC_000040" "g.169482782C>T" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764994C>T" "" "pathogenic" "" "0000171049" "1" "90" "3" "169482777" "169482777" "subst" "0" "00006" "TERC_000039" "g.169482777G>C" "" "{PMID:Vulliamy 2002:12090986}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764989G>C" "" "pathogenic" "" "0000171050" "1" "90" "3" "169482770" "169482770" "del" "0" "00006" "TERC_000038" "g.169482770delg" "" "{PMID:Vulliamy 2006:16332973}" "" "" "{DB-TEL:tr}\r\nVariant Error [EREF/0]: This genomic variant does not match the reference sequence; the transcript variant also has an error. Please fix this entry and then remove this message." "Germline" "" "" "0" "" "" "g.169764982delG" "" "pathogenic" "" "0000171051" "1" "90" "3" "169482766" "169482766" "subst" "0" "00006" "TERC_000037" "g.169482766A>C" "" "{PMID:Vulliamy 2011:21931702}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764978A>C" "" "pathogenic" "" "0000171052" "1" "90" "3" "169482758" "169482759" "del" "0" "00006" "TERC_000035" "g.169482758_169482759del" "" "{PMID:Vulliamy 2011:21931702}" "" "95_96delgc" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764970_169764971del" "" "pathogenic" "" "0000171053" "1" "90" "3" "169482752" "169482753" "del" "0" "00006" "TERC_000034" "g.169482752_169482753del" "" "{PMID:Vulliamy 2004:15098033}" "" "96_97delcu" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764964_169764965del" "" "pathogenic" "" "0000171054" "1" "90" "3" "169482751" "169482751" "subst" "0" "00006" "TERC_000033" "g.169482751C>T" "" "{PMID:Armanios 2007:17392301}" "" "" "{DB-TEL:tr}" "Germline" "" "" "0" "" "" "g.169764963C>T" "" "pathogenic" "" "0000336833" "0" "70" "3" "169482733" "169482733" "subst" "0" "02327" "TERC_000053" "g.169482733G>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169764945G>C" "" "likely pathogenic" "" "0000336834" "0" "90" "3" "169482814" "169482814" "subst" "2.1873E-5" "02327" "TERC_000047" "g.169482814G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169765026G>A" "" "pathogenic" "" "0000350797" "0" "70" "3" "169482758" "169482758" "subst" "0" "02327" "TERC_000054" "g.169482758C>G" "" "" "" "TERC(NR_001566.1):n.91G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169764970C>G" "" "likely pathogenic" "" "0000350968" "0" "90" "3" "169482730" "169482786" "del" "0" "02327" "TERC_000052" "g.169482730_169482786del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169764942_169764998del" "" "pathogenic" "" "0000350969" "0" "90" "3" "169482812" "169482812" "subst" "2.62304E-5" "02327" "TERC_000045" "g.169482812T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.169765024T>C" "" "pathogenic" "" "0000518458" "0" "90" "3" "169482401" "169482401" "subst" "0" "02327" "ACTRT3_000002" "g.169482401T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169764613T>C" "" "pathogenic" "" "0000518459" "0" "30" "3" "169482791" "169482791" "subst" "0.00377485" "02327" "TERC_000041" "g.169482791C>T" "" "" "" "TERC(NR_001566.1):n.58G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169765003C>T" "" "likely benign" "" "0000518460" "0" "30" "3" "169482791" "169482791" "subst" "0.00377485" "02326" "TERC_000041" "g.169482791C>T" "" "" "" "TERC(NR_001566.1):n.58G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169765003C>T" "" "likely benign" "" "0000518461" "0" "90" "3" "169482793" "169482795" "del" "0" "02327" "ACTRT3_000003" "g.169482793_169482795del" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169765005_169765007del" "" "pathogenic" "" "0000608407" "0" "50" "3" "169482758" "169482758" "subst" "0" "01943" "TERC_000054" "g.169482758C>G" "" "" "" "TERC(NR_001566.1):n.91G>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.169764970C>G" "" "VUS" "" "0000719275" "0" "50" "3" "169482794" "169482794" "subst" "0" "02327" "ACTRT3_000004" "g.169482794T>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000858868" "0" "50" "3" "169482618" "169482618" "subst" "0" "02327" "ACTRT3_000005" "g.169482618G>A" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" "0000911853" "0" "90" "3" "169482752" "169482752" "subst" "0" "02327" "ACTRT3_000006" "g.169482752A>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0000911854" "0" "30" "3" "169482791" "169482791" "subst" "0.00377485" "02325" "TERC_000041" "g.169482791C>T" "" "" "" "TERC(NR_001566.1):n.58G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0000920273" "1" "90" "3" "169483029" "169485768" "del" "0" "00006" "TERC_000055" "g.(169482168_169483029)_(169485768_169486206)del" "" "{PMID:Stray-Pedersen 2017:27577878}" "" "" "" "Germline" "" "" "0" "" "" "" "" "pathogenic" "ACMG" "0000993421" "0" "90" "3" "169482782" "169482782" "del" "0" "02325" "ACTRT3_000007" "g.169482782del" "" "" "" "TERC(NR_001566.1):n.67delG" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "pathogenic" "" "0001013839" "0" "70" "3" "169482513" "169482526" "delins" "0" "02327" "ACTRT3_000009" "g.169482513_169482526delinsGGGTCT" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001024740" "0" "70" "3" "169482477" "169482477" "subst" "0" "02325" "ACTRT3_000010" "g.169482477T>C" "" "" "" "TERC(NR_001566.1):n.372A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" "" "0001024741" "0" "50" "3" "169482651" "169482651" "subst" "0" "02325" "ACTRT3_000011" "g.169482651G>A" "" "" "" "TERC(NR_001566.1):n.198C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" "" ## 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 TERC ## Count = 78 "{{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/Protein/Domain}}" "0000170996" "00020977" "90" "0" "" "0" "" "n.(-240del)" "r.(?)" "-" "1" "5\' gene" "0000170997" "00020977" "90" "0" "" "0" "" "n.(-99C>G)" "r.(?)" "-" "1" "5\' gene" "0000170998" "00020977" "90" "0" "" "0" "" "n.(-99C>G)" "r.(?)" "-" "1" "5\' gene" "0000170999" "00020977" "90" "100" "0" "100" "0" "n.100T>A" "r.(?)" "-" "1" "Pseudoknot P2b flanking" "0000171000" "00020977" "90" "107" "0" "108" "0" "n.107_108delinsAG" "r.(?)" "-" "1" "Pseudoknot P3" "0000171001" "00020977" "90" "107" "0" "107" "0" "n.107G>T" "r.(?)" "-" "1" "Pseudoknot P3" "0000171002" "00020977" "90" "109" "0" "123" "0" "n.109_123del" "r.(?)" "-" "1" "Pseudoknot P3_P2b" "0000171003" "00020977" "90" "110" "0" "113" "0" "n.110_113del" "r.(?)" "-" "1" "Pseudoknot P3" "0000171004" "00020977" "90" "110" "0" "113" "0" "n.110_113del" "r.(?)" "-" "1" "Pseudoknot P3" "0000171005" "00020977" "90" "116" "0" "116" "0" "n.116C>T" "r.(?)" "-" "1" "Pseudoknot P2b" "0000171006" "00020977" "90" "116" "0" "116" "0" "n.116C>T" "r.(?)" "-" "1" "Pseudoknot P2b" "0000171007" "00020977" "90" "117" "0" "117" "0" "n.117A>C" "r.(?)" "-" "1" "Pseudoknot P2b" "0000171008" "00020977" "90" "126" "0" "126" "0" "n.126A>G" "r.(?)" "-" "1" "Pseudoknot P2a" "0000171009" "00020977" "90" "143" "0" "143" "0" "n.143G>A" "r.(?)" "-" "1" "Pseudoknot P2a.1" "0000171010" "00020977" "90" "143" "0" "143" "0" "n.143G>A" "r.(?)" "-" "1" "Pseudoknot P2a.1" "0000171011" "00020977" "90" "176" "0" "176" "0" "n.176A>C" "r.(?)" "-" "1" "Pseudoknot P3" "0000171012" "00020977" "90" "178" "0" "178" "0" "n.178G>A" "r.(?)" "-" "1" "Pseudoknot P3" "0000171013" "00020977" "90" "180" "0" "180" "0" "n.180C>T" "r.(?)" "-" "1" "Pseudoknot P3" "0000171014" "00020977" "90" "182" "0" "182" "0" "n.182G>A" "r.(?)" "-" "1" "Pseudoknot P3" "0000171015" "00020977" "90" "204" "0" "204" "0" "n.204C>G" "r.(?)" "-" "1" "Pseudoknot P1a" "0000171016" "00020977" "90" "216" "0" "229" "0" "n.216_229del" "r.(?)" "-" "1" "Hypervariable P4.1" "0000171017" "00020977" "10" "228" "0" "228" "0" "n.228G>A" "r.(?)" "-" "1" "Hypervariable P4.1" "0000171018" "00020977" "10" "228" "0" "228" "0" "n.228G>A" "r.(?)" "-" "1" "Hypervariable P4.1" "0000171019" "00020977" "90" "242" "0" "242" "0" "n.242C>T" "r.(?)" "-" "1" "Hypervariable P5" "0000171020" "00020977" "90" "28" "0" "34" "0" "n.28_34del" "r.(?)" "-" "1" "Pseudoknot P1a" "0000171021" "00020977" "90" "287" "0" "287" "0" "n.287C>G" "r.(?)" "-" "1" "CR4-CR5 P6b" "0000171022" "00020977" "90" "2" "0" "2" "0" "n.2G>C" "r.(?)" "-" "1" "Pseudoknot 5\' end" "0000171023" "00020977" "90" "305" "0" "305" "0" "n.305G>A" "r.(?)" "-" "1" "CR4-CR6 P6.1" "0000171024" "00020977" "90" "316" "0" "451" "0" "n.316_451del" "r.(?)" "-" "1" "CR4-CR7 J6/5 to Box ACA" "0000171025" "00020977" "90" "322" "0" "322" "0" "n.322G>A" "r.(?)" "-" "1" "CR4-CR8 P5" "0000171026" "00020977" "90" "323" "0" "323" "0" "n.323C>T" "r.(?)" "-" "1" "CR4-CR9 P5" "0000171027" "00020977" "90" "325" "0" "325" "0" "n.325G>T" "r.(?)" "-" "1" "CR4-CR10 P5" "0000171028" "00020977" "90" "341" "0" "360" "0" "n.341_360del" "r.(?)" "-" "1" "Hypervariable P4.1_P4.2" "0000171029" "00020977" "90" "35" "0" "35" "0" "n.35C>T" "r.(?)" "-" "1" "Pseudoknot P1b" "0000171030" "00020977" "90" "36" "0" "36" "0" "n.36C>T" "r.(?)" "-" "1" "Pseudoknot P1b" "0000171031" "00020977" "90" "375" "0" "377" "0" "n.375_377del" "r.(?)" "-" "1" "ScaRNA Box H" "0000171032" "00020977" "90" "377" "0" "377" "0" "n.377A>G" "r.(?)" "-" "1" "ScaRNA Box H" "0000171033" "00020977" "90" "378" "0" "415" "0" "n.378_415del" "r.(?)" "-" "1" "ScaRNA Box H" "0000171034" "00020977" "90" "378" "0" "451" "0" "n.378_451del" "r.(?)" "-" "1" "ScaRNA Box H to Box ACA" "0000171035" "00020977" "90" "37" "0" "37" "0" "n.37A>G" "r.(?)" "-" "1" "Pseudoknot P1b" "0000171036" "00020977" "90" "37" "0" "37" "0" "n.37A>G" "r.(?)" "-" "1" "Pseudoknot P1b" "0000171037" "00020977" "90" "389" "0" "390" "0" "n.389_390del" "r.(?)" "-" "1" "ScaRNA P7b" "0000171038" "00020977" "90" "408" "0" "408" "0" "n.408C>G" "r.(?)" "-" "1" "ScaRNA P8b" "0000171039" "00020977" "90" "450" "0" "450" "0" "n.450G>A" "r.(?)" "-" "1" "ScaRNA Box ACA" "0000171040" "00020977" "90" "0" "" "0" "" "n.(*16T>C)" "r.(?)" "-" "1" "3\' gene" "0000171041" "00020977" "90" "48" "0" "48" "0" "n.48A>G" "r.(?)" "-" "1" "Pseudoknot Template" "0000171042" "00020977" "90" "52" "0" "55" "0" "n.52_55del" "r.(?)" "-" "1" "Pseudoknot Template" "0000171043" "00020977" "90" "52" "0" "86" "0" "n.52_86del" "r.(?)" "-" "1" "Pseudoknot Template" "0000171044" "00020977" "90" "54" "0" "57" "0" "n.54_57del" "r.(?)" "-" "1" "Pseudoknot Template" "0000171045" "00020977" "10" "58" "0" "58" "0" "n.58G>A" "r.(?)" "-" "1" "Pseudoknot template flanking" "0000171046" "00020977" "10" "58" "0" "58" "0" "n.58G>A" "r.(?)" "-" "1" "Pseudoknot template flanking" "0000171047" "00020977" "10" "58" "0" "58" "0" "n.58G>A" "r.(?)" "-" "1" "Pseudoknot template flanking" "0000171048" "00020977" "90" "67" "0" "67" "0" "n.67G>A" "r.(?)" "-" "1" "Pseudoknot P2a.1" "0000171049" "00020977" "90" "72" "0" "72" "0" "n.72C>G" "r.(?)" "-" "1" "Pseudoknot P2a.1" "0000171050" "00020977" "90" "79" "0" "79" "0" "n.79delC" "r.(?)" "-" "1" "Pseudoknot P2a" "0000171051" "00020977" "90" "83" "0" "83" "0" "n.83T>G" "r.(?)" "-" "1" "Pseudoknot P2a" "0000171052" "00020977" "90" "95" "0" "96" "0" "n.95_96del" "r.(?)" "-" "1" "Pseudoknot P3" "0000171053" "00020977" "90" "96" "0" "97" "0" "n.96_97del" "r.(?)" "-" "1" "Pseudoknot P2b" "0000171054" "00020977" "90" "98" "0" "98" "0" "n.98G>A" "r.(?)" "-" "1" "Pseudoknot P2b" "0000336833" "00020977" "70" "116" "0" "116" "0" "n.116C>G" "r.(?)" "-" "" "" "0000336834" "00020977" "90" "35" "0" "35" "0" "n.35C>T" "r.(?)" "-" "" "" "0000350797" "00020977" "70" "91" "0" "91" "0" "n.91G>C" "r.(?)" "-" "" "" "0000350968" "00020977" "90" "68" "0" "124" "0" "n.68_124del" "r.(?)" "-" "" "" "0000350969" "00020977" "90" "37" "0" "37" "0" "n.37A>G" "r.(?)" "-" "" "" "0000518458" "00020977" "90" "448" "0" "448" "0" "n.448A>G" "r.(?)" "-" "" "" "0000518459" "00020977" "30" "58" "0" "58" "0" "n.58G>A" "r.(?)" "-" "" "" "0000518460" "00020977" "30" "58" "0" "58" "0" "n.58G>A" "r.(?)" "-" "" "" "0000518461" "00020977" "90" "54" "0" "56" "0" "n.54_56del" "r.(?)" "-" "" "" "0000608407" "00020977" "50" "91" "0" "91" "0" "n.91G>C" "r.(?)" "-" "" "" "0000719275" "00020977" "50" "55" "0" "55" "0" "n.55A>T" "r.(?)" "-" "" "" "0000858868" "00020977" "50" "231" "0" "231" "0" "n.231C>T" "r.(?)" "-" "" "" "0000911853" "00020977" "90" "97" "0" "97" "0" "n.97T>G" "r.(?)" "-" "" "" "0000911854" "00020977" "30" "58" "0" "58" "0" "n.58G>A" "r.(?)" "-" "" "" "0000920273" "00020977" "90" "0" "" "0" "" "n.(?_-2920)_(-181_?)del" "r.?" "p.?" "" "" "0000993421" "00020977" "90" "67" "0" "67" "0" "n.67del" "r.(?)" "-" "" "" "0001013839" "00020977" "70" "323" "0" "336" "0" "n.323_336delinsAGACCC" "r.(?)" "-" "" "" "0001024740" "00020977" "70" "372" "0" "372" "0" "n.372A>G" "r.(?)" "-" "" "" "0001024741" "00020977" "50" "198" "0" "198" "0" "n.198C>T" "r.(?)" "-" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 60 "{{screeningid}}" "{{variantid}}" "0000105546" "0000170996" "0000105547" "0000170997" "0000105548" "0000170998" "0000105549" "0000170999" "0000105550" "0000171000" "0000105551" "0000171001" "0000105552" "0000171002" "0000105553" "0000171003" "0000105554" "0000171004" "0000105555" "0000171005" "0000105556" "0000171006" "0000105557" "0000171007" "0000105558" "0000171008" "0000105559" "0000171009" "0000105560" "0000171010" "0000105561" "0000171011" "0000105562" "0000171012" "0000105563" "0000171013" "0000105564" "0000171014" "0000105565" "0000171015" "0000105566" "0000171016" "0000105567" "0000171017" "0000105568" "0000171018" "0000105569" "0000171019" "0000105570" "0000171020" "0000105571" "0000171021" "0000105572" "0000171022" "0000105573" "0000171023" "0000105574" "0000171024" "0000105575" "0000171025" "0000105576" "0000171026" "0000105577" "0000171027" "0000105578" "0000171028" "0000105579" "0000171029" "0000105580" "0000171030" "0000105581" "0000171031" "0000105582" "0000171032" "0000105583" "0000171033" "0000105584" "0000171034" "0000105585" "0000171035" "0000105586" "0000171036" "0000105587" "0000171037" "0000105588" "0000171038" "0000105589" "0000171039" "0000105590" "0000171040" "0000105591" "0000171041" "0000105592" "0000171042" "0000105593" "0000171043" "0000105594" "0000171044" "0000105595" "0000171045" "0000105596" "0000171046" "0000105597" "0000171047" "0000105598" "0000171048" "0000105599" "0000171049" "0000105600" "0000171050" "0000105601" "0000171051" "0000105602" "0000171052" "0000105603" "0000171053" "0000105604" "0000171054" "0000434518" "0000920273"