### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = C11orf74)
# 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}}"
"C11orf74" "chromosome 11 open reading frame 74" "11" "p12" "unknown" "NC_000011.9" "UD_132319455164" "" "https://www.LOVD.nl/IFTAP" "" "1" "25142" "119710" "0" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome." "" "" "" "1" "" "NOTE: gene name changed from C11orf74 to IFTAP" "-1" "NOTE: gene name changed from C11orf74 to IFTAP" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-12-09 14:55:53" "00000" "2025-02-07 18:57:27"
## 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}}"
"00003966" "C11orf74" "chromosome 11 open reading frame 74" "001" "NM_138787.2" "" "NP_620142.2" "" "" "" "-73" "747" "666" "36616093" "36680817" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 0
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Individuals ## Do not remove or alter this header ##
## Count = 0
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 0
## Phenotypes ## Do not remove or alter this header ##
## Count = 0
## Screenings ## Do not remove or alter this header ##
## Count = 0
## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 0
## 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 = 29
"{{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}}"
"0000251802" "0" "30" "11" "36614624" "36614624" "subst" "0.00162901" "02326" "RAG2_000004" "g.36614624A>G" "" "" "" "RAG2(NM_001243786.1):c.1095T>C (p.S365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36593074A>G" "" "likely benign" ""
"0000301348" "0" "30" "11" "36614561" "36614561" "subst" "0.00964578" "02326" "RAG2_000003" "g.36614561G>T" "" "" "" "RAG2(NM_001243786.1):c.1158C>A (p.F386L), RAG2(NM_001243786.2):c.1158C>A (p.F386L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36593011G>T" "" "likely benign" ""
"0000301349" "0" "30" "11" "36615697" "36615697" "subst" "0.00350002" "02326" "RAG2_000006" "g.36615697C>T" "" "" "" "RAG2(NM_001243786.1):c.22G>A (p.V8I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36594147C>T" "" "likely benign" ""
"0000306734" "0" "30" "11" "36615697" "36615697" "subst" "0.00350002" "01943" "RAG2_000006" "g.36615697C>T" "" "" "" "RAG2(NM_001243786.1):c.22G>A (p.V8I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36594147C>T" "" "likely benign" ""
"0000306735" "0" "50" "11" "36614905" "36614905" "subst" "8.12486E-6" "01943" "RAG2_000005" "g.36614905C>G" "" "" "" "RAG2(NM_000536.4):c.814G>C (p.V272L), RAG2(NM_001243786.1):c.814G>C (p.V272L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36593355C>G" "" "VUS" ""
"0000347366" "0" "70" "11" "36615403" "36615403" "subst" "0" "02327" "RAG2_000007" "g.36615403T>C" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.36593853T>C" "" "likely pathogenic" ""
"0000543875" "0" "50" "11" "36614203" "36614203" "subst" "0.00013809" "02325" "RAG2_000008" "g.36614203G>A" "" "" "" "RAG2(NM_001243786.2):c.1516C>T (p.R506C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36592653G>A" "" "VUS" ""
"0000543876" "0" "50" "11" "36614215" "36614215" "subst" "0.0019331" "01943" "RAG2_000009" "g.36614215T>C" "" "" "" "RAG2(NM_001243786.1):c.1504A>G (p.M502V)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36592665T>C" "" "VUS" ""
"0000543877" "0" "30" "11" "36614270" "36614270" "subst" "4.06339E-6" "02326" "RAG2_000010" "g.36614270C>T" "" "" "" "RAG2(NM_001243786.1):c.1449G>A (p.E483=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36592720C>T" "" "likely benign" ""
"0000543878" "0" "30" "11" "36614528" "36614528" "subst" "2.03148E-5" "02326" "RAG2_000011" "g.36614528A>G" "" "" "" "RAG2(NM_001243786.1):c.1191T>C (p.D397=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36592978A>G" "" "likely benign" ""
"0000543879" "0" "50" "11" "36614810" "36614810" "subst" "0.000121925" "01943" "RAG2_000012" "g.36614810C>A" "" "" "" "RAG2(NM_001243786.1):c.909G>T (p.E303D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36593260C>A" "" "VUS" ""
"0000543880" "0" "30" "11" "36614855" "36614855" "subst" "8.12711E-6" "01943" "RAG2_000013" "g.36614855G>A" "" "" "" "RAG2(NM_001243786.1):c.864C>T (p.N288=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36593305G>A" "" "likely benign" ""
"0000613326" "0" "10" "11" "36614561" "36614561" "subst" "0.00964578" "02325" "RAG2_000003" "g.36614561G>T" "" "" "" "RAG2(NM_001243786.1):c.1158C>A (p.F386L), RAG2(NM_001243786.2):c.1158C>A (p.F386L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36593011G>T" "" "benign" ""
"0000613327" "0" "50" "11" "36614592" "36614592" "subst" "8.1248E-6" "01943" "RAG2_000015" "g.36614592G>C" "" "" "" "RAG2(NM_001243786.1):c.1127C>G (p.T376S), RAG2(NM_001243786.2):c.1127C>G (p.T376S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36593042G>C" "" "VUS" ""
"0000613328" "0" "50" "11" "36614592" "36614592" "subst" "8.1248E-6" "02325" "RAG2_000015" "g.36614592G>C" "" "" "" "RAG2(NM_001243786.1):c.1127C>G (p.T376S), RAG2(NM_001243786.2):c.1127C>G (p.T376S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36593042G>C" "" "VUS" ""
"0000613329" "0" "50" "11" "36615705" "36615705" "subst" "0.000135222" "02325" "RAG2_000016" "g.36615705A>T" "" "" "" "RAG2(NM_000536.4):c.14T>A (p.M5K), RAG2(NM_001243786.1):c.14T>A (p.M5K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36594155A>T" "" "VUS" ""
"0000622627" "0" "50" "11" "36614521" "36614521" "subst" "0.000536341" "02325" "RAG2_000014" "g.36614521C>G" "" "" "" "RAG2(NM_001243786.2):c.1198G>C (p.D400H)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36592971C>G" "" "VUS" ""
"0000622628" "0" "30" "11" "36614624" "36614624" "subst" "0.00162901" "01943" "RAG2_000004" "g.36614624A>G" "" "" "" "RAG2(NM_001243786.1):c.1095T>C (p.S365=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36593074A>G" "" "likely benign" ""
"0000656786" "0" "30" "11" "36614645" "36614645" "subst" "0.000207191" "01943" "RAG2_000020" "g.36614645C>T" "" "" "" "RAG2(NM_001243786.1):c.1074G>A (p.E358=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.36593095C>T" "" "likely benign" ""
"0000679181" "0" "50" "11" "36615705" "36615705" "subst" "0.000135222" "01943" "RAG2_000016" "g.36615705A>T" "" "" "" "RAG2(NM_000536.4):c.14T>A (p.M5K), RAG2(NM_001243786.1):c.14T>A (p.M5K)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000723439" "0" "10" "11" "36615075" "36615075" "subst" "0.00331516" "02326" "RAG2_000021" "g.36615075G>A" "" "" "" "RAG2(NM_000536.4):c.644C>T (p.T215I), RAG2(NM_001243786.1):c.644C>T (p.T215I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000723440" "0" "70" "11" "36615367" "36615367" "del" "0" "01943" "RAG2_000022" "g.36615367del" "" "" "" "RAG2(NM_001243786.1):c.356delA (p.K119Rfs*12)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000805113" "0" "70" "11" "36615615" "36615615" "subst" "8.12506E-6" "01943" "RAG2_000019" "g.36615615C>G" "" "" "" "RAG2(NM_001243786.1):c.104G>C (p.G35A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000852892" "0" "70" "11" "36614367" "36614367" "subst" "4.06068E-5" "02327" "RAG2_000028" "g.36614367C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000852893" "0" "50" "11" "36615190" "36615190" "subst" "0" "02327" "RAG2_000029" "g.36615190C>G" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000852894" "0" "50" "11" "36615352" "36615352" "subst" "0.000260053" "01943" "RAG2_000030" "g.36615352G>A" "" "" "" "RAG2(NM_001243786.1):c.367C>T (p.R123C)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000889818" "0" "50" "11" "36615075" "36615075" "subst" "0.00331516" "02325" "RAG2_000021" "g.36615075G>A" "" "" "" "RAG2(NM_000536.4):c.644C>T (p.T215I), RAG2(NM_001243786.1):c.644C>T (p.T215I)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000889819" "0" "50" "11" "36615088" "36615088" "subst" "4.0619E-6" "02325" "RAG2_000031" "g.36615088C>T" "" "" "" "RAG2(NM_000536.4):c.631G>A (p.A211T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000929859" "0" "50" "11" "36614905" "36614905" "subst" "8.12486E-6" "02325" "RAG2_000005" "g.36614905C>G" "" "" "" "RAG2(NM_000536.4):c.814G>C (p.V272L), RAG2(NM_001243786.1):c.814G>C (p.V272L)" "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 C11orf74
## Count = 29
"{{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}}"
"0000251802" "00003966" "30" "-1542" "0" "-1542" "0" "c.-1542A>G" "r.(?)" "p.(=)" ""
"0000301348" "00003966" "30" "-1605" "0" "-1605" "0" "c.-1605G>T" "r.(?)" "p.(=)" ""
"0000301349" "00003966" "30" "-469" "0" "-469" "0" "c.-469C>T" "r.(?)" "p.(=)" ""
"0000306734" "00003966" "30" "-469" "0" "-469" "0" "c.-469C>T" "r.(?)" "p.(=)" ""
"0000306735" "00003966" "50" "-1261" "0" "-1261" "0" "c.-1261C>G" "r.(?)" "p.(=)" ""
"0000347366" "00003966" "70" "-763" "0" "-763" "0" "c.-763T>C" "r.(?)" "p.(=)" ""
"0000543875" "00003966" "50" "-1963" "0" "-1963" "0" "c.-1963G>A" "r.(?)" "p.(=)" ""
"0000543876" "00003966" "50" "-1951" "0" "-1951" "0" "c.-1951T>C" "r.(?)" "p.(=)" ""
"0000543877" "00003966" "30" "-1896" "0" "-1896" "0" "c.-1896C>T" "r.(?)" "p.(=)" ""
"0000543878" "00003966" "30" "-1638" "0" "-1638" "0" "c.-1638A>G" "r.(?)" "p.(=)" ""
"0000543879" "00003966" "50" "-1356" "0" "-1356" "0" "c.-1356C>A" "r.(?)" "p.(=)" ""
"0000543880" "00003966" "30" "-1311" "0" "-1311" "0" "c.-1311G>A" "r.(?)" "p.(=)" ""
"0000613326" "00003966" "10" "-1605" "0" "-1605" "0" "c.-1605G>T" "r.(?)" "p.(=)" ""
"0000613327" "00003966" "50" "-1574" "0" "-1574" "0" "c.-1574G>C" "r.(?)" "p.(=)" ""
"0000613328" "00003966" "50" "-1574" "0" "-1574" "0" "c.-1574G>C" "r.(?)" "p.(=)" ""
"0000613329" "00003966" "50" "-461" "0" "-461" "0" "c.-461A>T" "r.(?)" "p.(=)" ""
"0000622627" "00003966" "50" "-1645" "0" "-1645" "0" "c.-1645C>G" "r.(?)" "p.(=)" ""
"0000622628" "00003966" "30" "-1542" "0" "-1542" "0" "c.-1542A>G" "r.(?)" "p.(=)" ""
"0000656786" "00003966" "30" "-1521" "0" "-1521" "0" "c.-1521C>T" "r.(?)" "p.(=)" ""
"0000679181" "00003966" "50" "-461" "0" "-461" "0" "c.-461A>T" "r.(?)" "p.(=)" ""
"0000723439" "00003966" "10" "-1091" "0" "-1091" "0" "c.-1091G>A" "r.(?)" "p.(=)" ""
"0000723440" "00003966" "70" "-799" "0" "-799" "0" "c.-799del" "r.(?)" "p.(=)" ""
"0000805113" "00003966" "70" "-551" "0" "-551" "0" "c.-551C>G" "r.(?)" "p.(=)" ""
"0000852892" "00003966" "70" "-1799" "0" "-1799" "0" "c.-1799C>G" "r.(?)" "p.(=)" ""
"0000852893" "00003966" "50" "-976" "0" "-976" "0" "c.-976C>G" "r.(?)" "p.(=)" ""
"0000852894" "00003966" "50" "-814" "0" "-814" "0" "c.-814G>A" "r.(?)" "p.(=)" ""
"0000889818" "00003966" "50" "-1091" "0" "-1091" "0" "c.-1091G>A" "r.(?)" "p.(=)" ""
"0000889819" "00003966" "50" "-1078" "0" "-1078" "0" "c.-1078C>T" "r.(?)" "p.(=)" ""
"0000929859" "00003966" "50" "-1261" "0" "-1261" "0" "c.-1261C>G" "r.(?)" "p.(=)" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 0