### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = VAX1)
# 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}}"
"VAX1"	"ventral anterior homeobox 1"	"10"	"q26.11"	"unknown"	"NG_012317.1"	"UD_132118433907"	""	"https://www.LOVD.nl/VAX1"	""	"1"	"12660"	"11023"	"604294"	"1"	"1"	"1"	"1"	"Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"https://databases.lovd.nl/shared/refseq/VAX1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2011-09-20 00:00:00"	"00006"	"2017-07-06 08:19:22"	"00000"	"2024-04-19 20:27:30"


## 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}}"
"00022568"	"VAX1"	"transcript variant 1"	"002"	"NM_001112704.1"	""	"NP_001106175.1"	""	""	""	"-245"	"1723"	"1005"	"118897812"	"118892801"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"03632"	"MCOPCB11"	"microphthalmia, syndromic, type 11 (MCOPCB-11)"	"AR"	"614402"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"05586"	"OFC"	"cleft, orofacial (OFC)"	""	""	""	""	""	"00006"	"2019-03-29 16:06:15"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"VAX1"	"03632"


## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00117527"	""	""	""	"1"	""	"00678"	"{PMID:Slavotinek 2012:22095910}, {DOI:Slavotinek 2012:10.1002/humu.21658}"	""	"M"	"yes"	"Egypt"	""	"0"	""	""	"Egyptian"	"22095910-Fam"
"00426639"	""	""	""	"1"	""	"00000"	"{PMID:Peng 2016:27527345}"	""	""	""	"Taiwan"	""	"0"	""	""	"Taiwanese"	"?"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00117527"	"03632"
"00426639"	"05586"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 03632, 05586
## Count = 2
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"
"0000092997"	"03632"	"00117527"	"00678"	"Familial, autosomal recessive"	""	"bilateral severe microphthalmia, bilateral cleft lip and palate, developmental delays; 3.5y-growth parameters on 3rd centile, abnormal MRI with absent corpus callosum agenesis, cleft lip and palate"	""	""	""	""	""	""	""	""	""
"0000317791"	"05586"	"00426639"	"00000"	"Unknown"	""	"right cleft lip with palate"	""	""	""	""	""	""	""	"nonsyndromic orofacial cleft"	""


## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000117990"	"00117527"	"1"	"00678"	"00678"	"2011-10-11 00:23:21"	"00004"	"2011-10-15 03:52:09"	"SEQ"	"DNA"	""	""
"0000427957"	"00426639"	"1"	"00000"	"03840"	"2022-12-02 10:07:08"	""	""	"SEQ-NG;SEQ"	"DNA"	""	"next-generation sequencing customized panel and manipulated a whole-exon targeted-sequencing study"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000117990"	"VAX1"
"0000427957"	"VAX1"


## 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 = 9
"{{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}}"
"0000193956"	"3"	"90"	"10"	"118894070"	"118894071"	"delins"	"0"	"00678"	"VAX1_000001"	"g.118894070_118894071delinsTT"	""	"{PMID:Slavotinek 2012:22095910}, {DOI:Slavotinek 2012:10.1002/humu.21658}"	""	"453G>A, 454C>A"	""	"Germline"	""	""	"0"	""	""	"g.117134559_117134560delinsTT"	""	"pathogenic"	""
"0000612304"	"0"	"30"	"10"	"118897442"	"118897442"	"subst"	"0.00177655"	"01943"	"VAX1_000003"	"g.118897442G>A"	""	""	""	"VAX1(NM_199131.2):c.126C>T (p.A42=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.117137931G>A"	""	"likely benign"	""
"0000622339"	"0"	"90"	"10"	"118891967"	"118891970"	"del"	"0"	"01943"	"VAX1_000002"	"g.118891967_118891970del"	""	""	""	"VAX1(NM_199131.2):c.450_453delTGAA (p.E151Dfs*6)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.117132456_117132459del"	""	"pathogenic"	""
"0000656428"	"0"	"10"	"10"	"118892004"	"118892004"	"dup"	"0"	"02330"	"VAX1_000004"	"g.118892004dup"	""	""	""	"VAX1(NM_199131.3):c.430-5dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.117132493dup"	""	"benign"	""
"0000678783"	"0"	"50"	"10"	"118897479"	"118897479"	"subst"	"4.06742E-6"	"01943"	"VAX1_000005"	"g.118897479C>A"	""	""	""	"VAX1(NM_199131.2):c.89G>T (p.R30L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000690649"	"0"	"30"	"10"	"118893846"	"118893846"	"subst"	"0.00173611"	"01943"	"VAX1_000006"	"g.118893846G>A"	""	""	""	"VAX1(NM_001112704.1):c.678C>T (p.A226=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000804310"	"0"	"50"	"10"	"118893968"	"118893968"	"subst"	"0"	"01943"	"VAX1_000007"	"g.118893968G>A"	""	""	""	"VAX1(NM_001112704.1):c.556C>T (p.R186C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000905528"	"0"	"50"	"10"	"118896048"	"118896048"	"dup"	"0"	"00000"	"VAX1_000008"	"g.118896048dup"	"1/103 cases"	"{PMID:Peng 2016:27527345}"	""	"VAX1 c.364dupT, p.C122fs"	"risk factor; error in annotation p.C122fs is caused by c.364dupT and not 363dupT"	"Unknown"	"?"	""	"0"	""	""	"g.117136537dup"	""	"association"	""
"0000965603"	"0"	"10"	"10"	"118892004"	"118892004"	"dup"	"0"	"02329"	"VAX1_000004"	"g.118892004dup"	""	""	""	"VAX1(NM_199131.3):c.430-5dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""


## 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 VAX1
## Count = 9
"{{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}}"
"0000193956"	"00022568"	"90"	"453"	"0"	"454"	"0"	"c.453_454delinsAA"	"r.(?)"	"p.(Arg152Ser)"	"3"
"0000612304"	"00022568"	"30"	"126"	"0"	"126"	"0"	"c.126C>T"	"r.(?)"	"p.(Ala42=)"	""
"0000622339"	"00022568"	"90"	"2556"	"0"	"2559"	"0"	"c.*1551_*1554del"	"r.(=)"	"p.(=)"	""
"0000656428"	"00022568"	"10"	"2531"	"0"	"2531"	"0"	"c.*1526dup"	"r.(?)"	"p.(=)"	""
"0000678783"	"00022568"	"50"	"89"	"0"	"89"	"0"	"c.89G>T"	"r.(?)"	"p.(Arg30Leu)"	""
"0000690649"	"00022568"	"30"	"678"	"0"	"678"	"0"	"c.678C>T"	"r.(?)"	"p.(Ala226=)"	""
"0000804310"	"00022568"	"50"	"556"	"0"	"556"	"0"	"c.556C>T"	"r.(?)"	"p.(Arg186Cys)"	""
"0000905528"	"00022568"	"50"	"364"	"0"	"364"	"0"	"c.364dupT"	"r.(?)"	"p.(Cys122Leufs*17)"	""
"0000965603"	"00022568"	"10"	"2531"	"0"	"2531"	"0"	"c.*1526dup"	"r.(?)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000117990"	"0000193956"
"0000427957"	"0000905528"