### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = MYOC)
# 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}}"
"MYOC"	"myocilin"	"1"	"q24.3"	"unknown"	"NG_008859.1"	"UD_144427853910"	""	""	""	"1"	"7610"	"4653"	"601652"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2021-01-04 15:30:23"	""	""	"00005"	"2021-09-01 11:32:01"


## 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}}"
"00000088"	"MYOC"	"myocilin"	"001"	"NM_000261.1"	""	"NP_000252.1"	""	""	""	"-22"	"2023"	"1515"	"171652633"	"171635417"	"00001"	"2021-01-04 15:30:23"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00052"	"JOAG"	"juvenile-onset open angle glaucoma"	""	""	""	""	""	"00001"	"2021-01-04 15:29:22"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"MYOC"	"00052"


## Individuals ## Do not remove or alter this header ##
## Count = 1
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Remarks_Non_Public}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Origin/Ethnic}}"	"{{Individual/Origin/Population}}"	"{{Individual/Gender}}"
"00000317"	""	""	""	"1"	""	"00002"	"{PMID:Z Mimivati et al. (2014):24883016}"	""	""	"Malaysia"	"Malay"	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00000317"	"00052"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00052
## Count = 1
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000133"	"00052"	"00000317"	"00002"	""	"Familial, autosomal dominant"


## 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}}"
"0000000332"	"00000317"	"1"	"00002"	"00002"	"2021-01-04 15:36:26"	""	""	"PCR"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000000332"	"MYOC"


## 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 = 4
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/dbSNP}}"
"0000001511"	"0"	"90"	"1"	"171636000"	"171636000"	"subst"	"0"	"00002"	"MYOC_000001"	"g.171636000G>T"	"25/32"	"{PMID:Z Mimivati et al. (2014):24883016}, {dbSNP:rs74315332}, {OMIM:601652:0006}, {ClinVar:7951}"	""	""	"rs74315332"
"0000001512"	"3"	"90"	"1"	"171636000"	"171636000"	"subst"	"0"	"00002"	"MYOC_000001"	"g.171636000G>T"	"5/32"	"{PMID:Z Mimivati et al. (2014):24883016}, {dbSNP:rs74315332}, {OMIM:601652:0006}, {ClinVar:7951}"	""	""	"rs74315332"
"0000001513"	"0"	"90"	"1"	"171638562"	"171638562"	"subst"	"0"	"00002"	"MYOC_000002"	"g.171638562C>G"	"22/32"	"{PMID:Z Mimivati et al. (2014):24883016}, {dbSNP:rs2032555}"	"IVS2 730+35G>A"	""	"rs2032555"
"0000001514"	"3"	"90"	"1"	"171638562"	"171638562"	"subst"	"0"	"00002"	"MYOC_000002"	"g.171638562C>G"	"5/32"	"{PMID:Z Mimivati et al. (2014):24883016}, {dbSNP:rs2032555}"	"IVS2 730+35G>A"	""	"rs2032555"


## 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 MYOC
## Count = 4
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/Exon}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/RNA}}"	"{{VariantOnTranscript/Published_as}}"	"{{VariantOnTranscript/GVS/Function}}"	"{{VariantOnTranscript/VariantOnTranscript}}"
"0000001511"	"00000088"	"90"	"1440"	"0"	"1440"	"0"	"c.1440C>A"	"3"	"p.(Asn480Lys)"	"r.(?)"	""	""	"{ClinVar:7951}"
"0000001512"	"00000088"	"90"	"1440"	"0"	"1440"	"0"	"c.1440C>A"	""	"p.(Asn480Lys)"	"r.(?)"	""	""	"{ClinVar:7951}"
"0000001513"	"00000088"	"90"	"730"	"35"	"730"	"35"	"c.730+35G>C"	""	"p.(=)"	"r.(=)"	""	""	""
"0000001514"	"00000088"	"90"	"730"	"35"	"730"	"35"	"c.730+35G>C"	""	"p.(=)"	"r.(=)"	""	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{variantid}}"
"0000000332"	"0000001511"
"0000000332"	"0000001512"
"0000000332"	"0000001513"
"0000000332"	"0000001514"