### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = U2AF2)
# 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}}"
"U2AF2" "U2 small nuclear RNA auxiliary factor 2" "19" "q13.43" "unknown" "NG_032904.1" "UD_132378836420" "" "https://www.LOVD.nl/U2AF2" "" "1" "23156" "11338" "191318" "1" "1" "1" "1" "Linked to intellectual disability syndrome by Li ASHG2020.\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "g" "https://databases.lovd.nl/shared/refseq/U2AF2_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2020-11-01 10:13:11" "00000" "2024-08-28 13:16:32"
## 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}}"
"00022204" "U2AF2" "transcript variant 1" "001" "NM_007279.2" "" "NP_009210.1" "" "" "" "-1055" "2076" "1428" "56165416" "56186082" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"05611" "NDD" "neurodevelopmental disorder (NDD)" "" "" "" "" "" "00006" "2019-06-19 12:27:20" "00006" "2024-12-13 11:12:21"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Individuals ## Do not remove or alter this header ##
## Count = 24
"{{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}}"
"00315994" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00315995" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00315996" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00315997" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00315998" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00315999" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00316000" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00316001" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00316002" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00316003" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00316004" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00316005" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00316006" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00316007" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00316008" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00316009" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00316010" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00316011" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00316012" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00316013" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00316014" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00316015" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00316016" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
"00316017" "" "" "" "1" "" "00006" "Li ASHG2020" "" "" "" "" "" "0" "" "" "" "patient"
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 24
"{{individualid}}" "{{diseaseid}}"
"00315994" "05611"
"00315995" "05611"
"00315996" "05611"
"00315997" "05611"
"00315998" "05611"
"00315999" "05611"
"00316000" "05611"
"00316001" "05611"
"00316002" "05611"
"00316003" "05611"
"00316004" "05611"
"00316005" "05611"
"00316006" "05611"
"00316007" "05611"
"00316008" "05611"
"00316009" "05611"
"00316010" "05611"
"00316011" "05611"
"00316012" "05611"
"00316013" "05611"
"00316014" "05611"
"00316015" "05611"
"00316016" "05611"
"00316017" "05611"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 05611
## Count = 24
"{{id}}" "{{diseaseid}}" "{{individualid}}" "{{owned_by}}" "{{Phenotype/Inheritance}}" "{{Phenotype/Age}}" "{{Phenotype/Additional}}" "{{Phenotype/Age/Onset}}" "{{Phenotype/Age/Diagnosis}}" "{{Phenotype/Onset}}" "{{Phenotype/Enzyme/CPK}}" "{{Phenotype/Heart/Myocardium}}" "{{Phenotype/Lung}}" "{{Phenotype/Diagnosis/Definite}}" "{{Phenotype/Diagnosis/Initial}}"
"0000239739" "05611" "00315994" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239740" "05611" "00315995" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239741" "05611" "00315996" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239742" "05611" "00315997" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239743" "05611" "00315998" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239744" "05611" "00315999" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239745" "05611" "00316000" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239746" "05611" "00316001" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239747" "05611" "00316002" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239748" "05611" "00316003" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239749" "05611" "00316004" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239750" "05611" "00316005" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239751" "05611" "00316006" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239752" "05611" "00316007" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239753" "05611" "00316008" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239754" "05611" "00316009" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239755" "05611" "00316010" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239756" "05611" "00316011" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239757" "05611" "00316012" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239758" "05611" "00316013" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239759" "05611" "00316014" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239760" "05611" "00316015" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239761" "05611" "00316016" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
"0000239762" "05611" "00316017" "00006" "Isolated (sporadic)" "" "" "" "" "" "" "" "" "" "developmental delay"
## Screenings ## Do not remove or alter this header ##
## Count = 24
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000317176" "00315994" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317177" "00315995" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317178" "00315996" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317179" "00315997" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317180" "00315998" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317181" "00315999" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317182" "00316000" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317183" "00316001" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317184" "00316002" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317185" "00316003" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317186" "00316004" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317187" "00316005" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317188" "00316006" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317189" "00316007" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317190" "00316008" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317191" "00316009" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317192" "00316010" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317193" "00316011" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317194" "00316012" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317195" "00316013" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317196" "00316014" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317197" "00316015" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317198" "00316016" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000317199" "00316017" "1" "00006" "00006" "2020-11-01 10:43:30" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 24
"{{screeningid}}" "{{geneid}}"
"0000317176" "U2AF2"
"0000317177" "U2AF2"
"0000317178" "U2AF2"
"0000317179" "U2AF2"
"0000317180" "U2AF2"
"0000317181" "U2AF2"
"0000317182" "U2AF2"
"0000317183" "U2AF2"
"0000317184" "U2AF2"
"0000317185" "U2AF2"
"0000317186" "U2AF2"
"0000317187" "U2AF2"
"0000317188" "U2AF2"
"0000317189" "U2AF2"
"0000317190" "U2AF2"
"0000317191" "U2AF2"
"0000317192" "U2AF2"
"0000317193" "U2AF2"
"0000317194" "U2AF2"
"0000317195" "U2AF2"
"0000317196" "U2AF2"
"0000317197" "U2AF2"
"0000317198" "U2AF2"
"0000317199" "U2AF2"
## 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 = 35
"{{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}}"
"0000319192" "0" "50" "19" "56172518" "56172518" "subst" "0" "01943" "U2AF2_000002" "g.56172518G>A" "" "" "" "U2AF2(NM_007279.2):c.449G>A (p.R150H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.55661152G>A" "" "VUS" ""
"0000568552" "0" "30" "19" "56160776" "56160776" "subst" "0.00064721" "01804" "CCDC106_000002" "g.56160776C>T" "" "" "" "CCDC106(NM_013301.2):c.139C>T (p.(Pro47Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55649410C>T" "" "likely benign" ""
"0000617891" "0" "30" "19" "56190030" "56190030" "subst" "0" "01943" "EPN1_000002" "g.56190030A>G" "" "" "" "EPN1(NM_001130071.1):c.370A>G (p.I124V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.55678664A>G" "" "likely benign" ""
"0000681515" "0" "70" "19" "56172514" "56172514" "subst" "0" "02327" "U2AF2_000004" "g.56172514C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000681516" "0" "50" "19" "56172517" "56172517" "subst" "0" "02327" "U2AF2_000005" "g.56172517C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000699380" "0" "90" "19" "56172514" "56172514" "subst" "0" "00006" "U2AF2_000004" "g.56172514C>T" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55661148C>T" "" "pathogenic (dominant)" ""
"0000699381" "0" "90" "19" "56172514" "56172514" "subst" "0" "00006" "U2AF2_000004" "g.56172514C>T" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55661148C>T" "" "pathogenic (dominant)" ""
"0000699382" "0" "90" "19" "56172514" "56172514" "subst" "0" "00006" "U2AF2_000004" "g.56172514C>T" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55661148C>T" "" "pathogenic (dominant)" ""
"0000699383" "0" "90" "19" "56172514" "56172514" "subst" "0" "00006" "U2AF2_000004" "g.56172514C>T" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55661148C>T" "" "pathogenic (dominant)" ""
"0000699384" "0" "90" "19" "56172514" "56172514" "subst" "0" "00006" "U2AF2_000004" "g.56172514C>T" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55661148C>T" "" "pathogenic (dominant)" ""
"0000699385" "0" "90" "19" "56172514" "56172514" "subst" "0" "00006" "U2AF2_000004" "g.56172514C>T" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55661148C>T" "" "pathogenic (dominant)" ""
"0000699386" "0" "90" "19" "56172514" "56172514" "subst" "0" "00006" "U2AF2_000004" "g.56172514C>T" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55661148C>T" "" "pathogenic (dominant)" ""
"0000699387" "0" "90" "19" "56172514" "56172514" "subst" "0" "00006" "U2AF2_000004" "g.56172514C>T" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55661148C>T" "" "pathogenic (dominant)" ""
"0000699388" "0" "90" "19" "56172517" "56172517" "subst" "0" "00006" "U2AF2_000005" "g.56172517C>T" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55661151C>T" "" "pathogenic (dominant)" ""
"0000699389" "0" "90" "19" "56172517" "56172517" "subst" "0" "00006" "U2AF2_000005" "g.56172517C>T" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55661151C>T" "" "pathogenic (dominant)" ""
"0000699390" "0" "90" "19" "56172517" "56172517" "subst" "0" "00006" "U2AF2_000005" "g.56172517C>T" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55661151C>T" "" "pathogenic (dominant)" ""
"0000699391" "0" "90" "19" "56172517" "56172517" "subst" "0" "00006" "U2AF2_000005" "g.56172517C>T" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55661151C>T" "" "pathogenic (dominant)" ""
"0000699392" "0" "90" "19" "56172517" "56172517" "subst" "0" "00006" "U2AF2_000005" "g.56172517C>T" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55661151C>T" "" "pathogenic (dominant)" ""
"0000699393" "0" "90" "19" "56172517" "56172517" "subst" "0" "00006" "U2AF2_000005" "g.56172517C>T" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55661151C>T" "" "pathogenic (dominant)" ""
"0000699394" "0" "90" "19" "56172518" "56172518" "subst" "0" "00006" "U2AF2_000002" "g.56172518G>A" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55661152G>A" "" "pathogenic (dominant)" ""
"0000699395" "0" "90" "19" "56172518" "56172518" "subst" "0" "00006" "U2AF2_000002" "g.56172518G>A" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55661152G>A" "" "pathogenic (dominant)" ""
"0000699396" "0" "90" "19" "56173937" "56173937" "subst" "0" "00006" "U2AF2_000009" "g.56173937G>A" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55662571G>A" "" "pathogenic (dominant)" ""
"0000699397" "0" "90" "19" "56173937" "56173937" "subst" "0" "00006" "U2AF2_000009" "g.56173937G>A" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55662571G>A" "" "pathogenic (dominant)" ""
"0000699398" "0" "90" "19" "56172490" "56172490" "subst" "0" "00006" "U2AF2_000006" "g.56172490G>A" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55661124G>A" "" "pathogenic (dominant)" ""
"0000699399" "0" "90" "19" "56172505" "56172505" "subst" "0" "00006" "U2AF2_000007" "g.56172505A>G" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55661139A>G" "" "pathogenic (dominant)" ""
"0000699400" "0" "90" "19" "56173905" "56173905" "subst" "0" "00006" "U2AF2_000008" "g.56173905T>C" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55662539T>C" "" "pathogenic (dominant)" ""
"0000699401" "0" "90" "19" "56175110" "56175110" "subst" "0" "00006" "U2AF2_000010" "g.56175110G>A" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55663744G>A" "" "pathogenic (dominant)" ""
"0000699402" "0" "90" "19" "56179891" "56179891" "subst" "0" "00006" "U2AF2_000011" "g.56179891T>C" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55668525T>C" "" "pathogenic (dominant)" ""
"0000699403" "0" "90" "19" "56180488" "56180490" "del" "0" "00006" "U2AF2_000012" "g.56180488_56180490del" "" "Li ASHG2020" "" "" "" "De novo" "" "" "0" "" "" "g.55669122_55669124del" "" "pathogenic (dominant)" ""
"0000931108" "0" "30" "19" "56175097" "56175097" "subst" "0.00170989" "02325" "U2AF2_000013" "g.56175097C>T" "" "" "" "U2AF2(NM_007279.3):c.729C>T (p.S243=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000983669" "0" "30" "19" "56171875" "56171875" "subst" "0" "01804" "U2AF2_000014" "g.56171875C>T" "" "" "" "U2AF2(NM_007279.3):c.231-7C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000983670" "0" "50" "19" "56172395" "56172395" "subst" "1.72691E-5" "01804" "U2AF2_000015" "g.56172395C>T" "" "" "" "U2AF2(NM_007279.3):c.335-9C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001005150" "0" "50" "19" "56170609" "56170609" "subst" "0" "01804" "U2AF2_000016" "g.56170609G>A" "" "" "" "U2AF2(NM_001012478.1):c.83G>A (p.(Ser28Asn))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0001005151" "0" "30" "19" "56173901" "56173901" "subst" "0" "01804" "U2AF2_000017" "g.56173901C>A" "" "" "" "U2AF2(NM_007279.2):c.520C>A (p.(Arg174Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001005152" "0" "50" "19" "56173940" "56173940" "subst" "0" "01804" "U2AF2_000018" "g.56173940T>A" "" "" "" "U2AF2(NM_007279.2):c.559T>A (p.(Leu187Met))" "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 U2AF2
## Count = 35
"{{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}}"
"0000319192" "00022204" "50" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Arg150His)" ""
"0000568552" "00022204" "30" "-5695" "0" "-5695" "0" "c.-5695C>T" "r.(?)" "p.(=)" ""
"0000617891" "00022204" "30" "6024" "0" "6024" "0" "c.*4596A>G" "r.(=)" "p.(=)" ""
"0000681515" "00022204" "70" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Trp)" ""
"0000681516" "00022204" "50" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Arg150Cys)" ""
"0000699380" "00022204" "90" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Trp)" ""
"0000699381" "00022204" "90" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Trp)" ""
"0000699382" "00022204" "90" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Trp)" ""
"0000699383" "00022204" "90" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Trp)" ""
"0000699384" "00022204" "90" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Trp)" ""
"0000699385" "00022204" "90" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Trp)" ""
"0000699386" "00022204" "90" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Trp)" ""
"0000699387" "00022204" "90" "445" "0" "445" "0" "c.445C>T" "r.(?)" "p.(Arg149Trp)" ""
"0000699388" "00022204" "90" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Arg150Cys)" ""
"0000699389" "00022204" "90" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Arg150Cys)" ""
"0000699390" "00022204" "90" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Arg150Cys)" ""
"0000699391" "00022204" "90" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Arg150Cys)" ""
"0000699392" "00022204" "90" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Arg150Cys)" ""
"0000699393" "00022204" "90" "448" "0" "448" "0" "c.448C>T" "r.(?)" "p.(Arg150Cys)" ""
"0000699394" "00022204" "90" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Arg150His)" ""
"0000699395" "00022204" "90" "449" "0" "449" "0" "c.449G>A" "r.(?)" "p.(Arg150His)" ""
"0000699396" "00022204" "90" "556" "0" "556" "0" "c.556G>A" "r.(?)" "p.(Val186Met)" ""
"0000699397" "00022204" "90" "556" "0" "556" "0" "c.556G>A" "r.(?)" "p.(Val186Met)" ""
"0000699398" "00022204" "90" "421" "0" "421" "0" "c.421G>A" "r.(?)" "p.(Gly141Arg)" ""
"0000699399" "00022204" "90" "436" "0" "436" "0" "c.436A>G" "r.(?)" "p.(Arg146Gly)" ""
"0000699400" "00022204" "90" "524" "0" "524" "0" "c.524T>C" "r.(?)" "p.(Leu175Pro)" ""
"0000699401" "00022204" "90" "742" "0" "742" "0" "c.742G>A" "r.(?)" "p.(Gly248Arg)" ""
"0000699402" "00022204" "90" "761" "0" "761" "0" "c.761T>C" "r.(?)" "p.(Val254Ala)" ""
"0000699403" "00022204" "90" "985" "0" "987" "0" "c.985_987del" "r.(?)" "p.(Lys329del)" ""
"0000931108" "00022204" "30" "729" "0" "729" "0" "c.729C>T" "r.(?)" "p.(=)" ""
"0000983669" "00022204" "30" "231" "-7" "231" "-7" "c.231-7C>T" "r.(=)" "p.(=)" ""
"0000983670" "00022204" "50" "335" "-9" "335" "-9" "c.335-9C>T" "r.(=)" "p.(=)" ""
"0001005150" "00022204" "50" "83" "0" "83" "0" "c.83G>A" "r.(?)" "p.(Ser28Asn)" ""
"0001005151" "00022204" "30" "520" "0" "520" "0" "c.520C>A" "r.(?)" "p.(Arg174Ser)" ""
"0001005152" "00022204" "50" "559" "0" "559" "0" "c.559T>A" "r.(?)" "p.(Leu187Met)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 24
"{{screeningid}}" "{{variantid}}"
"0000317176" "0000699380"
"0000317177" "0000699381"
"0000317178" "0000699382"
"0000317179" "0000699383"
"0000317180" "0000699384"
"0000317181" "0000699385"
"0000317182" "0000699386"
"0000317183" "0000699387"
"0000317184" "0000699388"
"0000317185" "0000699389"
"0000317186" "0000699390"
"0000317187" "0000699391"
"0000317188" "0000699392"
"0000317189" "0000699393"
"0000317190" "0000699394"
"0000317191" "0000699395"
"0000317192" "0000699396"
"0000317193" "0000699397"
"0000317194" "0000699398"
"0000317195" "0000699399"
"0000317196" "0000699400"
"0000317197" "0000699401"
"0000317198" "0000699402"
"0000317199" "0000699403"