### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = COL1A2)
# 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}}"
"COL1A2"	"collagen type I alpha 2 chain"	"7"	"q21.3"	"unknown"	"LRG_2"	"UD_144414577956"	""	""	""	"1"	"2198"	"1278"	"120160"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2020-11-24 10:50:12"	""	""	"00006"	"2021-09-13 15:23:19"


## 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}}"
"00000043"	"COL1A2"	"collagen type I alpha 2 chain"	"001"	"NM_000089.3"	""	"NP_000080.2"	""	""	""	"-471"	"4940"	"4101"	"94394561"	"94431232"	"00001"	"2020-11-24 10:50:47"	""	""


## 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}}"
"00027"	"OI"	"Osteogenesis imperfecta"	""	""	""	""	""	"00001"	"2020-11-24 10:46:54"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"COL1A2"	"00027"


## 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}}"
"00000183"	""	""	""	"1"	""	"00002"	"{PMID:Nadiah Mohd Nawawi et al. (2018):29807018}"	""	""	"Malaysia"	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{individualid}}"	"{{diseaseid}}"
"00000183"	"00027"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00027
## Count = 1
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000088"	"00027"	"00000183"	"00002"	""	""


## 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}}"
"0000000198"	"00000183"	"1"	"00002"	"00002"	"2020-11-24 11:49:43"	""	""	"SEQ"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000000198"	"COL1A2"


## 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}}"
"0000000904"	"0"	"90"	"7"	"94418499"	"94418499"	"subst"	"0"	"00002"	"COL1A2_000001"	"g.94418499G>A"	"1/5"	"{PMID:Nadiah Mohd Nawawi et al. (2018):29807018}"	""	""	"rs1343017824"
"0000000905"	"0"	"00"	"7"	"94426459"	"94426459"	"subst"	"0"	"00002"	"COL1A2_000002"	"g.94426459G>A"	"1/5"	"{PMID:Nadiah Mohd Nawawi et al. (2018):29807018}, {dbSNP:rs72659319}, {ClinVar:216908}"	""	""	"rs72659319"
"0000000906"	"0"	"90"	"7"	"94425847"	"94425847"	"subst"	"0"	"00002"	"COL1A2_000003"	"g.94425847G>A"	"2/5"	"{PMID:Nadiah Mohd Nawawi et al. (2018):29807018}, {ClinVar:958335}"	""	""	""
"0000000907"	"0"	"90"	"7"	"94410890"	"94410890"	"subst"	"0"	"00002"	"COL1A2_000004"	"g.94410890G>A"	"1/5"	"{PMID:Nadiah Mohd Nawawi et al. (2018):29807018}"	""	""	"rs104886107"


## 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 COL1A2
## 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}}"
"0000000904"	"00000043"	"90"	"1972"	"0"	"1972"	"0"	"c.1972G>A"	"33"	"p.(Gly658Ser)"	"r.(?)"	""	""	""
"0000000905"	"00000043"	"00"	"3034"	"0"	"3034"	"0"	"c.3034G>A"	"46"	"p.(Gly1012Ser)"	"r.(?)"	""	""	"{ClinVar:216908}"
"0000000906"	"00000043"	"90"	"2933"	"0"	"2933"	"0"	"c.2933G>A"	"44"	"p.(Arg978His)"	"r.(?)"	""	""	""
"0000000907"	"00000043"	"90"	"1199"	"0"	"1199"	"0"	"c.1199G>A"	"22"	"p.(Gly400Asp)"	"r.(?)"	""	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 4
"{{screeningid}}"	"{{variantid}}"
"0000000198"	"0000000904"
"0000000198"	"0000000905"
"0000000198"	"0000000906"
"0000000198"	"0000000907"