### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = RNASEH1)
# 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}}"
"RNASEH1"	"ribonuclease H1"	"2"	"p25"	"unknown"	"NC_000002.11"	"UD_132378853849"	""	"http://www.LOVD.nl/RNASEH1"	""	"1"	"18466"	"246243"	"604123"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/RNASEH1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2015-07-24 21:52:12"	"00006"	"2024-09-23 13:11:18"


## 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}}"
"00017847"	"RNASEH1"	"ribonuclease H1"	"001"	"NM_002936.3"	""	"NP_002927.2"	""	""	""	"-90"	"1558"	"861"	"3605940"	"3592678"	""	"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}}"
"04245"	"PEOA"	"ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal dominant (PEOA)"	""	""	""	""	""	"00006"	"2015-05-01 19:52:34"	""	""
"04646"	"PEOB2"	"ophthalmoplegia, external, progressive, with mitochondrial DNA deletions, autosomal recessive, type 2 (PEOB-2)"	"AR"	"616479"	""	""	""	"00000"	"2015-09-23 10:25:23"	"00006"	"2021-12-10 21:51:32"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"RNASEH1"	"04646"


## 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}}"
"00046789"	""	""	""	"1"	""	"00006"	"{PMID:Reyes 2015:26094573}, {DOI:Reyes 2015:10.1016/j.ajhg.2015.05.013}"	"2-generation family, 1 affected,unaffected heterozygous carrier parents"	"F"	"no"	""	">42y"	"0"	""	""	""	""
"00046790"	""	""	""	"1"	""	"00006"	"{PMID:Reyes 2015:26094573}, {DOI:Reyes 2015:10.1016/j.ajhg.2015.05.013}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents/sibs"	"M"	"no"	""	">46y"	"0"	""	""	""	""
"00046791"	""	""	""	"4"	""	"00006"	"{PMID:Reyes 2015:26094573}, {DOI:Reyes 2015:10.1016/j.ajhg.2015.05.013}, {PMID:Legati 2016:26968897}"	"3-generation family, 4 affecteds (3F, 1M), unaffected heterozygous carrier parents/children"	"F"	"yes"	"Italy"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00046789"	"04245"
"00046790"	"04245"
"00046791"	"04245"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 04245, 04646
## Count = 3
"{{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}}"
"0000034300"	"04245"	"00046789"	"00006"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""
"0000034301"	"04245"	"00046790"	"00006"	"Isolated (sporadic)"	""	"see paper; ..."	""	""	""	""	""	""	""	""	""
"0000034302"	"04245"	"00046791"	"00006"	"Familial, autosomal recessive"	""	"see paper; ..., progressive external ophtalmoparesis,  cerebellar signs"	"45y"	""	""	""	""	""	""	""	"multiple RC complex defect"


## 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}}"
"0000046898"	"00046789"	"1"	"00006"	"00006"	"2015-07-24 21:50:31"	""	""	"SEQ"	"DNA"	""	""
"0000046899"	"00046790"	"1"	"00006"	"00006"	"2015-07-24 21:57:48"	""	""	"SEQ"	"DNA"	""	""
"0000046900"	"00046791"	"1"	"00006"	"00006"	"2015-07-24 22:09:11"	""	""	"SEQ"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000046898"	"RNASEH1"
"0000046899"	"RNASEH1"
"0000046900"	"RNASEH1"


## 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 = 6
"{{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}}"
"0000075426"	"11"	"90"	"2"	"3598048"	"3598048"	"subst"	"4.0625E-5"	"00006"	"RNASEH1_000001"	"g.3598048C>T"	""	"{PMID:Reyes 2015:26094573}, {DOI:Reyes 2015:10.1016/j.ajhg.2015.05.013}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.3550458C>T"	""	"pathogenic"	""
"0000075427"	"21"	"90"	"2"	"3598003"	"3598003"	"subst"	"8.12269E-6"	"00006"	"RNASEH1_000002"	"g.3598003G>A"	""	"{PMID:Reyes 2015:26094573}, {DOI:Reyes 2015:10.1016/j.ajhg.2015.05.013}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.3550413G>A"	""	"pathogenic"	""
"0000075428"	"21"	"90"	"2"	"3598048"	"3598048"	"subst"	"4.0625E-5"	"00006"	"RNASEH1_000001"	"g.3598048C>T"	""	"{PMID:Reyes 2015:26094573}, {DOI:Reyes 2015:10.1016/j.ajhg.2015.05.013}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.3550458C>T"	""	"pathogenic"	""
"0000075429"	"11"	"90"	"2"	"3596658"	"3596658"	"subst"	"0"	"00006"	"RNASEH1_000003"	"g.3596658G>A"	""	"{PMID:Reyes 2015:26094573}, {DOI:Reyes 2015:10.1016/j.ajhg.2015.05.013}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.3549068G>A"	""	"pathogenic"	""
"0000075430"	"3"	"90"	"2"	"3598048"	"3598048"	"subst"	"4.0625E-5"	"00006"	"RNASEH1_000001"	"g.3598048C>T"	""	"{PMID:Reyes 2015:26094573}, {DOI:Reyes 2015:10.1016/j.ajhg.2015.05.013}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.3550458C>T"	""	"pathogenic"	""
"0000947837"	"0"	"90"	"2"	"3598048"	"3598048"	"subst"	"4.0625E-5"	"02327"	"RNASEH1_000001"	"g.3598048C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""


## 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 RNASEH1
## Count = 6
"{{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}}"
"0000075426"	"00017847"	"90"	"424"	"0"	"424"	"0"	"c.424G>A"	"r.(?)"	"p.(Val142Ile)"	"4"
"0000075427"	"00017847"	"90"	"469"	"0"	"469"	"0"	"c.469C>T"	"r.(?)"	"p.(Arg157*)"	"4"
"0000075428"	"00017847"	"90"	"424"	"0"	"424"	"0"	"c.424G>A"	"r.(?)"	"p.(Val142Ile)"	"4"
"0000075429"	"00017847"	"90"	"554"	"0"	"554"	"0"	"c.554C>T"	"r.(?)"	"p.(Ala185Val)"	"5"
"0000075430"	"00017847"	"90"	"424"	"0"	"424"	"0"	"c.424G>A"	"r.(?)"	"p.(Val142Ile)"	"4"
"0000947837"	"00017847"	"90"	"424"	"0"	"424"	"0"	"c.424G>A"	"r.(?)"	"p.(Val142Ile)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{variantid}}"
"0000046898"	"0000075426"
"0000046898"	"0000075427"
"0000046899"	"0000075428"
"0000046899"	"0000075429"
"0000046900"	"0000075430"