### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TGIF1)
# 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}}"
"TGIF1" "TGFB-induced factor homeobox 1" "18" "p11.31" "unknown" "NG_007447.2" "UD_132118533245" "" "https://www.LOVD.nl/TGIF1" "" "1" "11776" "7050" "602630" "1" "1" "1" "1" "We gratefully acknowledge Aimée Paulussen for acting as a curator until 2016. Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "" "" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2019-01-21 12:37:25" "00000" "2025-11-01 13:22:20"
## 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}}"
"00021052" "TGIF1" "transcript variant 1" "006" "NM_170695.2" "" "NP_733796.2" "" "" "" "-387" "1677" "1206" "3451591" "3458409" "" "0000-00-00 00:00:00" "" ""
## Diseases ## Do not remove or alter this header ##
## Count = 5
"{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}"
"00139" "ID" "intellectual disability (ID)" "" "" "" "" "" "00084" "2013-06-04 18:18:07" "00006" "2015-02-09 10:02:49"
"00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12"
"00259" "obesity" "obesity, susceptibility to (incl. leanness)" "AD;AR;Mu" "601665" "" "" "" "00006" "2013-10-28 15:05:17" "00006" "2022-01-13 16:46:00"
"00438" "HPE" "holoprosencephaly (HPE)" "" "236100" "" "" "" "00662" "2014-06-30 10:33:45" "00006" "2015-12-04 07:41:19"
"01369" "HPE4" "holoprosencephaly, type 4 (HPE-4)" "AD" "142946" "" "" "" "00006" "2014-09-25 23:29:40" "00006" "2021-12-10 21:51:32"
## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}" "{{diseaseid}}"
"TGIF1" "00139"
"TGIF1" "00438"
"TGIF1" "01369"
## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{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}}"
"00050715" "" "" "" "1" "" "00006" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "family, 1 affected" "M" "" "United Kingdom (Great Britain)" "" "0" "Decipher" "" "" ""
"00155227" "" "" "" "1" "" "00006" "{PMID:Saeed 2018:29311637}" "3-generation family, 1 affected, unaffected heterozygous carrier parents/relatives" "F" "yes" "Pakistan" "" "0" "" "" "Punjab" "29311637-Fam1"
"00466183" "" "" "" "1" "" "03820" "" "" "F" "" "Brazil" "" "0" "" "" "" ""
## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}" "{{diseaseid}}"
"00050715" "00198"
"00155227" "00259"
"00466183" "00198"
## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00259, 00438, 01369
## Count = 3
"{{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}}"
"0000037327" "00198" "00050715" "00006" "Isolated (sporadic)" "" "autism, global developmental delay, recurrent hand flapping, unsteady gait" "" "" "" "" "" "" "" "" "" "" ""
"0000127755" "00259" "00155227" "00006" "Familial, autosomal recessive" "" "severe, early-onset obesity (BMI score ≥3)" "" "" "" "" "" "" "" "" "" "obesity" ""
"0000351570" "00198" "00466183" "03820" "Unknown" "" "microcephaly" "" "" "" "" "" "" "" "" "" "" ""
## Screenings ## Do not remove or alter this header ##
## Count = 3
"{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}"
"0000050660" "00050715" "1" "00006" "00006" "2015-09-27 16:16:40" "" "" "SEQ;SEQ-NG-I" "DNA" "" ""
"0000156091" "00155227" "1" "00006" "00006" "2018-03-18 13:02:02" "" "" "SEQ;SEQ-NG" "DNA" "" "WES"
"0000467841" "00466183" "1" "03820" "03820" "2025-08-06 15:40:15" "" "" "SEQ-NG" "DNA" "blood" ""
## 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 = 47
"{{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}}"
"0000079640" "0" "90" "18" "3200244" "3521862" "del" "0" "00006" "DLGAP1_000003" "g.3200244_3521862del" "" "{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}" "" "" "decreased gene dosage" "De novo" "" "" "0" "" "" "g.3200246_3521864del" "" "pathogenic" ""
"0000249466" "0" "30" "18" "3452339" "3452339" "subst" "5.00092E-5" "02325" "TGIF1_000003" "g.3452339A>G" "" "" "" "TGIF1(NM_170695.5):c.-86A>G" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3452341A>G" "" "likely benign" ""
"0000311816" "0" "10" "18" "3452223" "3452223" "del" "0.319049" "02325" "TGIF1_000001" "g.3452223del" "" "" "" "TGIF1(NM_170695.2):c.246del (p.(Pro83LeufsTer51)), TGIF1(NM_170695.5):c.-202delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3452225del" "" "benign" ""
"0000325796" "0" "50" "18" "3452226" "3452226" "del" "8.53002E-6" "01804" "TGIF1_000002" "g.3452226del" "" "" "" "TGIF1(NM_003244.2):c.16+1723del (p.(=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3452228del" "" "VUS" ""
"0000344685" "0" "50" "18" "3457439" "3457439" "subst" "0.00032486" "02327" "TGIF1_000005" "g.3457439A>T" "" "" "" "TGIF1(NM_173208.3):c.320A>T (p.Q107L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.3457441A>T" "" "VUS" ""
"0000357968" "3" "50" "18" "3452223" "3452223" "dup" "0" "00006" "TGIF1_000006" "g.3452223dup" "" "{PMID:Saeed 2018:29311637}" "" "" "" "Germline" "" "" "0" "" "" "g.3452225dup" "" "VUS" ""
"0000564735" "0" "30" "18" "3447757" "3447757" "subst" "8.1211E-6" "01943" "TGIF1_000007" "g.3447757G>C" "" "" "" "TGIF1(NM_173207.2):c.20G>C (p.S7T)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3447759G>C" "" "likely benign" ""
"0000564736" "0" "10" "18" "3451965" "3451965" "subst" "0" "02327" "TGIF1_000009" "g.3451965C>T" "" "" "" "" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3451967C>T" "" "benign" ""
"0000564738" "0" "10" "18" "3452030" "3452030" "subst" "0.0272072" "02327" "TGIF1_000010" "g.3452030C>T" "" "" "" "TGIF1(NM_170695.5):c.-395C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3452032C>T" "" "benign" ""
"0000564739" "0" "50" "18" "3452031" "3452031" "subst" "0.00545308" "02327" "TGIF1_000011" "g.3452031G>A" "" "" "" "TGIF1(NM_170695.5):c.-394G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3452033G>A" "" "VUS" ""
"0000564740" "0" "50" "18" "3452067" "3452067" "subst" "0.000394675" "01943" "TGIF1_000012" "g.3452067G>A" "" "" "" "TGIF1(NM_170695.3):c.90G>A (p.W30*), TGIF1(NM_170695.5):c.-358G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3452069G>A" "" "VUS" ""
"0000564742" "0" "90" "18" "3452067" "3452067" "subst" "0.000394675" "02325" "TGIF1_000012" "g.3452067G>A" "" "" "" "TGIF1(NM_170695.3):c.90G>A (p.W30*), TGIF1(NM_170695.5):c.-358G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3452069G>A" "" "pathogenic" ""
"0000564743" "0" "30" "18" "3452135" "3452135" "subst" "0.00290691" "01804" "TGIF1_000013" "g.3452135C>T" "" "" "" "TGIF1(NM_170695.2):c.158C>T (p.(Ser53Phe))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3452137C>T" "" "likely benign" ""
"0000564746" "0" "30" "18" "3452223" "3452223" "del" "0.319049" "01804" "TGIF1_000001" "g.3452223del" "" "" "" "TGIF1(NM_170695.2):c.246del (p.(Pro83LeufsTer51)), TGIF1(NM_170695.5):c.-202delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3452225del" "" "likely benign" ""
"0000564748" "0" "30" "18" "3452291" "3452291" "subst" "0.000875941" "01943" "TGIF1_000017" "g.3452291G>A" "" "" "" "TGIF1(NM_170695.3):c.314G>A (p.R105H, p.(Arg105His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3452293G>A" "" "likely benign" ""
"0000564752" "0" "30" "18" "3457496" "3457496" "subst" "0.000251764" "02325" "TGIF1_000021" "g.3457496T>C" "" "" "" "TGIF1(NM_170695.5):c.317T>C (p.V106A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3457498T>C" "" "likely benign" ""
"0000564753" "0" "30" "18" "3457570" "3457570" "subst" "0.000146218" "01943" "TGIF1_000022" "g.3457570A>G" "" "" "" "TGIF1(NM_170695.3):c.838A>G (p.T280A)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3457572A>G" "" "likely benign" ""
"0000617153" "0" "30" "18" "3452116" "3452116" "subst" "3.69552E-5" "01943" "TGIF1_000023" "g.3452116C>T" "" "" "" "TGIF1(NM_170695.3):c.139C>T (p.L47=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3452118C>T" "" "likely benign" ""
"0000617154" "0" "30" "18" "3456458" "3456458" "subst" "0.00148617" "01943" "TGIF1_000024" "g.3456458C>T" "" "" "" "TGIF1(NM_170695.3):c.510C>T (p.N170=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3456460C>T" "" "likely benign" ""
"0000658376" "0" "30" "18" "3452223" "3452224" "del" "0" "02325" "TGIF1_000015" "g.3452223_3452224del" "" "" "" "TGIF1(NM_170695.5):c.-202_-201delTC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.3452225_3452226del" "" "likely benign" ""
"0000681143" "0" "50" "18" "3447753" "3447753" "subst" "0" "01943" "TGIF1_000025" "g.3447753A>T" "" "" "" "TGIF1(NM_173207.2):c.16A>T (p.K6*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000692594" "0" "30" "18" "3456395" "3456395" "subst" "0.000531949" "01943" "TGIF1_000026" "g.3456395C>T" "" "" "" "TGIF1(NM_170695.3):c.447C>T (p.S149=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000726880" "0" "70" "18" "3447739" "3447739" "subst" "0" "01943" "TGIF1_000027" "g.3447739T>A" "" "" "" "TGIF1(NM_173207.2):c.2T>A (p.M1?)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely pathogenic" ""
"0000808482" "0" "30" "18" "3447775" "3447775" "subst" "0.000564435" "01943" "TGIF1_000008" "g.3447775C>G" "" "" "" "TGIF1(NM_173207.2):c.38C>G (p.S13*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000808483" "0" "50" "18" "3452007" "3452007" "del" "0" "02325" "TGIF1_000028" "g.3452007del" "" "" "" "TGIF1(NM_173208.3):c.16+1504delC" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000855291" "0" "30" "18" "3452031" "3452031" "subst" "0.00545308" "02330" "TGIF1_000011" "g.3452031G>A" "" "" "" "TGIF1(NM_170695.5):c.-394G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000855292" "0" "30" "18" "3452188" "3452188" "subst" "0.00014442" "01943" "TGIF1_000030" "g.3452188C>T" "" "" "" "TGIF1(NM_170695.3):c.211C>T (p.P71S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000855293" "0" "30" "18" "3452223" "3452223" "del" "0.319049" "02330" "TGIF1_000001" "g.3452223del" "" "" "" "TGIF1(NM_170695.2):c.246del (p.(Pro83LeufsTer51)), TGIF1(NM_170695.5):c.-202delT" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000855294" "0" "10" "18" "3457539" "3457539" "subst" "0.101173" "02330" "TGIF1_000031" "g.3457539A>G" "" "" "" "TGIF1(NM_173207.4):c.462A>G (p.P154=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000855295" "0" "10" "18" "3457606" "3457606" "subst" "0.0643985" "02330" "TGIF1_000032" "g.3457606C>T" "" "" "" "TGIF1(NM_173207.4):c.529C>T (p.P177S)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000855296" "0" "10" "18" "3457607" "3457607" "subst" "0.0620517" "02330" "TGIF1_000033" "g.3457607C>T" "" "" "" "TGIF1(NM_173207.4):c.530C>T (p.P177L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000855297" "0" "10" "18" "3457695" "3457695" "subst" "0.0131193" "02330" "TGIF1_000034" "g.3457695C>T" "" "" "" "TGIF1(NM_173207.4):c.618C>T (p.V206=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000855298" "0" "10" "18" "3457776" "3457776" "subst" "0.0186916" "02330" "TGIF1_000035" "g.3457776T>G" "" "" "" "TGIF1(NM_173207.4):c.699T>G (p.T233=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000865684" "0" "10" "18" "3447725" "3447725" "subst" "0.0478056" "02330" "TGIF1_000029" "g.3447725C>T" "" "" "" "TGIF1(NM_173207.4):c.-13C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000894559" "0" "10" "18" "3452030" "3452030" "subst" "0.0272072" "02330" "TGIF1_000010" "g.3452030C>T" "" "" "" "TGIF1(NM_170695.5):c.-395C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000894560" "0" "10" "18" "3452262" "3452262" "subst" "0.0126859" "02330" "TGIF1_000036" "g.3452262C>T" "" "" "" "TGIF1(NM_170695.5):c.-163C>T" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0000894561" "0" "50" "18" "3452308" "3452308" "subst" "1.26049E-5" "02325" "TGIF1_000037" "g.3452308G>A" "" "" "" "TGIF1(NM_173208.3):c.16+1805G>A" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "VUS" ""
"0000894562" "0" "30" "18" "3457439" "3457439" "subst" "0.00032486" "02325" "TGIF1_000005" "g.3457439A>T" "" "" "" "TGIF1(NM_173208.3):c.320A>T (p.Q107L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000894563" "0" "30" "18" "3457495" "3457495" "subst" "3.65476E-5" "02325" "TGIF1_000020" "g.3457495G>A" "" "" "" "TGIF1(NM_173208.3):c.376G>A (p.V126M)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0000894564" "0" "10" "18" "3457608" "3457608" "subst" "0.00349696" "02330" "TGIF1_000038" "g.3457608G>A" "" "" "" "TGIF1(NM_173207.4):c.531G>A (p.P177=)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "benign" ""
"0001004088" "0" "30" "18" "3452135" "3452135" "subst" "0" "01804" "TGIF1_000039" "g.3452135C>G" "" "" "" "TGIF1(NM_170695.3):c.158C>G (p.(Ser53Cys))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001004089" "0" "30" "18" "3452225" "3452225" "subst" "4.26501E-6" "01804" "TGIF1_000040" "g.3452225C>T" "" "" "" "TGIF1(NM_170695.3):c.248C>T (p.(Pro83Leu))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001004090" "0" "30" "18" "3452291" "3452291" "subst" "0.000875941" "01804" "TGIF1_000017" "g.3452291G>A" "" "" "" "TGIF1(NM_170695.3):c.314G>A (p.R105H, p.(Arg105His))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001042422" "0" "30" "18" "3447744" "3447744" "subst" "0" "01804" "TGIF1_000041" "g.3447744T>A" "" "" "" "TGIF1(NM_173207.4):c.7T>A (p.(Cys3Ser))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001047183" "0" "50" "18" "3456433" "3456433" "subst" "0" "03820" "TGIF1_000042" "g.3456433C>T" "" "" "" "" "" "Germline/De novo (untested)" "" "" "0" "" "" "g.3456435C>T" "" "VUS" "ACMG"
"0001056254" "0" "30" "18" "3450310" "3450310" "subst" "0" "01804" "TGIF1_000043" "g.3450310T>C" "" "" "" "TGIF1(NM_173208.3):c.-168-10T>C" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" ""
"0001056255" "0" "50" "18" "3450324" "3450324" "subst" "0" "01804" "TGIF1_000044" "g.3450324G>T" "" "" "" "TGIF1(NM_001278684.2):c.-164G>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 TGIF1
## Count = 47
"{{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/Variant/Type}}"
"0000079640" "00021052" "00" "-251734" "0" "65130" "0" "c.-251734_*63924del" "r.0?" "p.0?" "" ""
"0000249466" "00021052" "30" "362" "0" "362" "0" "c.362A>G" "r.(?)" "p.(Gln121Arg)" "" ""
"0000311816" "00021052" "10" "246" "0" "246" "0" "c.246del" "r.(?)" "p.(Pro83LeufsTer51)" "" ""
"0000325796" "00021052" "50" "249" "0" "249" "0" "c.249del" "r.(?)" "p.(Pro84HisfsTer50)" "" ""
"0000344685" "00021052" "50" "707" "0" "707" "0" "c.707A>T" "r.(?)" "p.(Gln236Leu)" "" ""
"0000357968" "00021052" "50" "246" "0" "246" "0" "c.246dup" "r.(?)" "p.(Pro83Serfs*61)" "" ""
"0000564735" "00021052" "30" "-4221" "0" "-4221" "0" "c.-4221G>C" "r.(?)" "p.(=)" "" ""
"0000564736" "00021052" "10" "-13" "0" "-13" "0" "c.-13C>T" "r.(?)" "p.(=)" "" ""
"0000564738" "00021052" "10" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Ser18Leu)" "" ""
"0000564739" "00021052" "50" "54" "0" "54" "0" "c.54G>A" "r.(?)" "p.(Ser18=)" "" ""
"0000564740" "00021052" "50" "90" "0" "90" "0" "c.90G>A" "r.(?)" "p.(Trp30Ter)" "" ""
"0000564742" "00021052" "90" "90" "0" "90" "0" "c.90G>A" "r.(?)" "p.(Trp30Ter)" "" ""
"0000564743" "00021052" "30" "158" "0" "158" "0" "c.158C>T" "r.(?)" "p.(Ser53Phe)" "" ""
"0000564746" "00021052" "30" "246" "0" "246" "0" "c.246del" "r.(?)" "p.(Pro83LeufsTer51)" "" ""
"0000564748" "00021052" "30" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Arg105His)" "" ""
"0000564752" "00021052" "30" "764" "0" "764" "0" "c.764T>C" "r.(?)" "p.(Val255Ala)" "" ""
"0000564753" "00021052" "30" "838" "0" "838" "0" "c.838A>G" "r.(?)" "p.(Thr280Ala)" "" ""
"0000617153" "00021052" "30" "139" "0" "139" "0" "c.139C>T" "r.(?)" "p.(Leu47=)" "" ""
"0000617154" "00021052" "30" "510" "0" "510" "0" "c.510C>T" "r.(?)" "p.(Asn170=)" "" ""
"0000658376" "00021052" "30" "246" "0" "247" "0" "c.246_247del" "r.(?)" "p.(Pro83SerfsTer60)" "" ""
"0000681143" "00021052" "50" "-4225" "0" "-4225" "0" "c.-4225A>T" "r.(?)" "p.(=)" "" ""
"0000692594" "00021052" "30" "447" "0" "447" "0" "c.447C>T" "r.(?)" "p.(Ser149=)" "" ""
"0000726880" "00021052" "70" "-4239" "0" "-4239" "0" "c.-4239T>A" "r.(?)" "p.(=)" "" ""
"0000808482" "00021052" "30" "-4203" "0" "-4203" "0" "c.-4203C>G" "r.(?)" "p.(=)" "" ""
"0000808483" "00021052" "50" "30" "0" "30" "0" "c.30del" "r.(?)" "p.(Val12Trpfs*122)" "" ""
"0000855291" "00021052" "30" "54" "0" "54" "0" "c.54G>A" "r.(?)" "p.(Ser18=)" "" ""
"0000855292" "00021052" "30" "211" "0" "211" "0" "c.211C>T" "r.(?)" "p.(Pro71Ser)" "" ""
"0000855293" "00021052" "30" "246" "0" "246" "0" "c.246del" "r.(?)" "p.(Pro83LeufsTer51)" "" ""
"0000855294" "00021052" "10" "807" "0" "807" "0" "c.807A>G" "r.(?)" "p.(Pro269=)" "" ""
"0000855295" "00021052" "10" "874" "0" "874" "0" "c.874C>T" "r.(?)" "p.(Pro292Ser)" "" ""
"0000855296" "00021052" "10" "875" "0" "875" "0" "c.875C>T" "r.(?)" "p.(Pro292Leu)" "" ""
"0000855297" "00021052" "10" "963" "0" "963" "0" "c.963C>T" "r.(?)" "p.(Val321=)" "" ""
"0000855298" "00021052" "10" "1044" "0" "1044" "0" "c.1044T>G" "r.(?)" "p.(Thr348=)" "" ""
"0000865684" "00021052" "10" "-4253" "0" "-4253" "0" "c.-4253C>T" "r.(?)" "p.(=)" "" ""
"0000894559" "00021052" "10" "53" "0" "53" "0" "c.53C>T" "r.(?)" "p.(Ser18Leu)" "" ""
"0000894560" "00021052" "10" "285" "0" "285" "0" "c.285C>T" "r.(?)" "p.(Ser95=)" "" ""
"0000894561" "00021052" "50" "331" "0" "331" "0" "c.331G>A" "r.(?)" "p.(Glu111Lys)" "" ""
"0000894562" "00021052" "30" "707" "0" "707" "0" "c.707A>T" "r.(?)" "p.(Gln236Leu)" "" ""
"0000894563" "00021052" "30" "763" "0" "763" "0" "c.763G>A" "r.(?)" "p.(Val255Met)" "" ""
"0000894564" "00021052" "10" "876" "0" "876" "0" "c.876G>A" "r.(?)" "p.(Pro292=)" "" ""
"0001004088" "00021052" "30" "158" "0" "158" "0" "c.158C>G" "r.(?)" "p.(Ser53Cys)" "" ""
"0001004089" "00021052" "30" "248" "0" "248" "0" "c.248C>T" "r.(?)" "p.(Pro83Leu)" "" ""
"0001004090" "00021052" "30" "314" "0" "314" "0" "c.314G>A" "r.(?)" "p.(Arg105His)" "" ""
"0001042422" "00021052" "30" "-4234" "0" "-4234" "0" "c.-4234T>A" "r.(?)" "p.(=)" "" ""
"0001047183" "00021052" "50" "485" "0" "485" "0" "c.485C>T" "r.(?)" "p.(Ser162Leu)" "" ""
"0001056254" "00021052" "30" "-1668" "0" "-1668" "0" "c.-1668T>C" "r.(?)" "p.(=)" "" ""
"0001056255" "00021052" "50" "-1654" "0" "-1654" "0" "c.-1654G>T" "r.(?)" "p.(=)" "" ""
## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}" "{{variantid}}"
"0000050660" "0000079640"
"0000156091" "0000357968"
"0000467841" "0001047183"