### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = HES7)
# 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}}"
"HES7"	"hairy and enhancer of split 7 (Drosophila)"	"17"	"p13.1"	"unknown"	"NG_015816.1"	"UD_132118543380"	""	"http://www.LOVD.nl/HES7"	""	"1"	"15977"	"84667"	"608059"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/HES7_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2015-05-29 16:20:23"	"00000"	"2025-11-01 13:22:20"


## Transcripts ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00009284"	"HES7"	"transcript variant 2"	"001"	"NM_032580.3"	""	"NP_115969.2"	""	""	""	"-8"	"1659"	"678"	"8027410"	"8023908"	""	"0000-00-00 00:00:00"	""	""
"00024038"	"HES7"	"transcript variant 1"	"002"	"NM_001165967.1"	""	"NP_001159439.1"	""	""	""	"-8"	"1674"	"693"	"8027410"	"8023908"	"00006"	"2015-05-29 16:18:53"	""	""


## 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}}"
"00115"	"CRMCC"	"microangiopathy, cerebroretinal, with calcifications and cysts (CRMCC, Coats plus syndrome)"	"AR"	"612199"	""	""	""	"00001"	"2013-03-08 10:55:44"	"00006"	"2021-12-10 21:51:32"
"03391"	"SCDO4"	"dysostosis, spondylocostal, autosomal recessive, type 4 (SCDO-4)"	"AR"	"613686"	""	""	""	"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 = 1
"{{geneid}}"	"{{diseaseid}}"
"HES7"	"03391"


## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{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}}"
"00037771"	""	""	""	"1"	""	"00015"	"{PMID:Netravahti 2015:25928698}, {DOI:Netravahti 2015:10.1186/s12881-015-0151-8}"	"2-generation family, unaffected heterozygous carrier parents"	"M"	"no"	"India"	">08y"	"0"	""	""	"Indian"	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00037771"	"00115"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00115, 03391
## Count = 1
"{{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}}"
"0000028316"	"00115"	"00037771"	"00015"	"Familial, autosomal recessive"	""	"Coats plus syndrome; dextrocardia, situs inversus; see paper ..."	""	""	""	""	""	""	""	""	""


## Screenings ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000038002"	"00037771"	"1"	"00015"	"00015"	"2015-05-04 14:40:52"	""	""	"SEQ"	"DNA"	"blood"	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{geneid}}"
"0000038002"	"CTC1"
"0000038002"	"HES7"


## 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 = 13
"{{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}}"
"0000065313"	"3"	"75"	"17"	"8024333"	"8024333"	"subst"	"0"	"00015"	"HES7_000001"	"g.8024333T>C"	""	"{PMID:Netravahti 2015:25928698}, {DOI:Netravahti 2015:10.1186/s12881-015-0151-8}"	""	"c.*556T>C"	"homozygous cases not reported before; suggested to cause mRNA instability"	"Germline"	"yes"	"rs182882481"	"0"	""	""	"g.8121015T>C"	""	"likely pathogenic"	""
"0000259066"	"0"	"10"	"17"	"8022065"	"8022065"	"subst"	"0.334608"	"02325"	"ALOXE3_000004"	"g.8022065G>A"	""	""	""	"ALOXE3(NM_001165960.1):c.32C>T (p.P11L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8118747G>A"	""	"benign"	""
"0000338782"	"0"	"10"	"17"	"8021407"	"8021407"	"subst"	"0.0251721"	"02327"	"ALOXE3_000007"	"g.8021407G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8118089G>C"	""	"benign"	""
"0000338783"	"0"	"10"	"17"	"8021608"	"8021608"	"subst"	"0.103381"	"02327"	"ALOXE3_000008"	"g.8021608G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8118290G>C"	""	"benign"	""
"0000340762"	"0"	"10"	"17"	"8026364"	"8026364"	"subst"	"0.118726"	"02327"	"HES7_000002"	"g.8026364C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.8123046C>T"	""	"benign"	""
"0000563761"	"0"	"30"	"17"	"8021473"	"8021473"	"subst"	"6.61594E-6"	"01804"	"ALOXE3_000011"	"g.8021473G>C"	""	""	""	"ALOXE3(NM_001165960.1):c.232C>G (p.(Gln78Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8118155G>C"	""	"likely benign"	""
"0000563762"	"0"	"30"	"17"	"8021612"	"8021612"	"subst"	"0.00587346"	"01804"	"ALOXE3_000012"	"g.8021612C>A"	""	""	""	"ALOXE3(NM_001165960.1):c.93G>T (p.(Gln31His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.8118294C>A"	""	"likely benign"	""
"0000692527"	"0"	"50"	"17"	"8025644"	"8025644"	"subst"	"0.000136326"	"02327"	"ALOXE3_000014"	"g.8025644C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000692528"	"0"	"50"	"17"	"8026407"	"8026407"	"subst"	"0"	"02327"	"ALOXE3_000015"	"g.8026407C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000855179"	"0"	"30"	"17"	"8025033"	"8025033"	"subst"	"0"	"01943"	"ALOXE3_000018"	"g.8025033G>T"	""	""	""	"HES7(NM_001165967.2):c.549C>A (p.S183=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001042295"	"0"	"50"	"17"	"8025316"	"8025316"	"subst"	"0"	"01804"	"ALOXE3_000024"	"g.8025316T>C"	""	""	""	"HES7(NM_001165967.2):c.266A>G (p.(Asp89Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001055831"	"0"	"50"	"17"	"8021431"	"8021431"	"subst"	"0"	"01804"	"ALOXE3_000027"	"g.8021431G>A"	""	""	""	"ALOXE3(NM_001165960.1):c.274C>T (p.(Pro92Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001055832"	"0"	"50"	"17"	"8021481"	"8021481"	"subst"	"0"	"01804"	"ALOXE3_000028"	"g.8021481T>C"	""	""	""	"ALOXE3(NM_001165960.1):c.224A>G (p.(Glu75Gly))"	"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 HES7
## Count = 25
"{{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}}"
"0000065313"	"00009284"	"70"	"1234"	"0"	"1234"	"0"	"c.*556A>G"	"r.(?)"	"p.(?)"	"4"
"0000259066"	"00009284"	"10"	"3502"	"0"	"3502"	"0"	"c.*2824C>T"	"r.(=)"	"p.(=)"	""
"0000259066"	"00024038"	"10"	"3517"	"0"	"3517"	"0"	"c.*2824C>T"	"r.(=)"	"p.(=)"	""
"0000338782"	"00009284"	"10"	"4160"	"0"	"4160"	"0"	"c.*3482C>G"	"r.(=)"	"p.(=)"	""
"0000338782"	"00024038"	"10"	"4175"	"0"	"4175"	"0"	"c.*3482C>G"	"r.(=)"	"p.(=)"	""
"0000338783"	"00009284"	"10"	"3959"	"0"	"3959"	"0"	"c.*3281C>G"	"r.(=)"	"p.(=)"	""
"0000338783"	"00024038"	"10"	"3974"	"0"	"3974"	"0"	"c.*3281C>G"	"r.(=)"	"p.(=)"	""
"0000340762"	"00009284"	"10"	"123"	"0"	"123"	"0"	"c.123G>A"	"r.(?)"	"p.(Glu41=)"	""
"0000340762"	"00024038"	"10"	"123"	"0"	"123"	"0"	"c.123G>A"	"r.(?)"	"p.(Glu41=)"	""
"0000563761"	"00009284"	"30"	"4094"	"0"	"4094"	"0"	"c.*3416C>G"	"r.(=)"	"p.(=)"	""
"0000563761"	"00024038"	"30"	"4109"	"0"	"4109"	"0"	"c.*3416C>G"	"r.(=)"	"p.(=)"	""
"0000563762"	"00009284"	"30"	"3955"	"0"	"3955"	"0"	"c.*3277G>T"	"r.(=)"	"p.(=)"	""
"0000563762"	"00024038"	"30"	"3970"	"0"	"3970"	"0"	"c.*3277G>T"	"r.(=)"	"p.(=)"	""
"0000692527"	"00009284"	"50"	"226"	"17"	"226"	"17"	"c.226+17G>A"	"r.(=)"	"p.(=)"	""
"0000692527"	"00024038"	"50"	"226"	"17"	"226"	"17"	"c.226+17G>A"	"r.(=)"	"p.(=)"	""
"0000692528"	"00009284"	"50"	"80"	"0"	"80"	"0"	"c.80G>A"	"r.(?)"	"p.(Arg27His)"	""
"0000692528"	"00024038"	"50"	"80"	"0"	"80"	"0"	"c.80G>A"	"r.(?)"	"p.(Arg27His)"	""
"0000855179"	"00009284"	"30"	"534"	"0"	"534"	"0"	"c.534C>A"	"r.(?)"	"p.(Ser178=)"	""
"0000855179"	"00024038"	"30"	"549"	"0"	"549"	"0"	"c.549C>A"	"r.(?)"	"p.(Ser183=)"	""
"0001042295"	"00009284"	"50"	"251"	"0"	"251"	"0"	"c.251A>G"	"r.(?)"	"p.(Asp84Gly)"	""
"0001042295"	"00024038"	"50"	"266"	"0"	"266"	"0"	"c.266A>G"	"r.(?)"	"p.(Asp89Gly)"	""
"0001055831"	"00009284"	"50"	"4136"	"0"	"4136"	"0"	"c.*3458C>T"	"r.(=)"	"p.(=)"	""
"0001055831"	"00024038"	"50"	"4151"	"0"	"4151"	"0"	"c.*3458C>T"	"r.(=)"	"p.(=)"	""
"0001055832"	"00009284"	"50"	"4086"	"0"	"4086"	"0"	"c.*3408A>G"	"r.(=)"	"p.(=)"	""
"0001055832"	"00024038"	"50"	"4101"	"0"	"4101"	"0"	"c.*3408A>G"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{variantid}}"
"0000038002"	"0000065313"