### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = TGM1)
# 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}}"
"TGM1"	"transglutaminase 1"	"14"	"q12"	"unknown"	"NG_007150.2"	"UD_144438595009"	""	""	""	"1"	"11777"	"7051"	"190195"	"1"	"1"	"1"	"0"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2021-03-16 00:00:00"	"00001"	"2021-03-16 09:38:48"	"00005"	"2021-09-09 15:47:02"


## 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}}"
"00000395"	"TGM1"	"transglutaminase 1"	"001"	"NM_000359.2"	""	"NP_000350.1"	""	""	""	"-124"	"2653"	"2454"	"24263210"	"24249114"	"00001"	"2021-03-16 09:45:55"	""	""


## 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}}"
"00082"	"ARCI"	"autosomal recessive congenital ichthyosis"	"AR"	""	""	""	""	"00001"	"2021-03-09 15:13:00"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"TGM1"	"00082"


## Individuals ## Do not remove or alter this header ##
## Count = 3
"{{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}}"
"00000520"	""	""	""	"1"	""	"00004"	"{PMID:Sanae Numata et al.(2015):25766764}"	""	""	"Malaysia"	"Malay"	""	""
"00000521"	""	""	""	"1"	""	"00004"	"{PMID:Sanae Numata et al.(2015):25766764}"	""	""	"Malaysia"	"Malay"	""	""
"00000523"	""	""	""	"1"	""	"00004"	"{PMID:Sanae Numata et al.(2015):25766764}"	""	""	"Malaysia"	"Indian"	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{individualid}}"	"{{diseaseid}}"
"00000520"	"00082"
"00000521"	"00082"
"00000523"	"00082"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00082
## Count = 3
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Inheritance}}"
"0000000175"	"00082"	"00000520"	"00004"	"diagnosed as lamellar ichthyosis"	""
"0000000176"	"00082"	"00000521"	"00004"	"diagnosed as congenital ichthyosiform erythroderma"	""
"0000000178"	"00082"	"00000523"	"00004"	"diagnosed as congenital ichthyosiform erythroderma"	""


## 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}}"
"0000000568"	"00000520"	"1"	"00004"	"00004"	"2021-03-16 09:36:56"	""	""	"PCR"	"DNA"
"0000000569"	"00000521"	"1"	"00004"	"00004"	"2021-03-16 09:58:38"	""	""	"PCR"	"DNA"
"0000000571"	"00000523"	"1"	"00004"	"00004"	"2021-03-16 10:42:25"	""	""	"PCR"	"DNA"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000000568"	"TGM1"
"0000000569"	"TGM1"
"0000000571"	"TGM1"


## 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/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/dbSNP}}"
"0000002409"	"0"	"90"	"14"	"24261824"	"24261824"	"subst"	"0"	"00004"	"TGM1_000001"	"g.24261824G>A"	"1/17"	"{PMID:Sanae Numata et al.(2015):25766764}"	""	""	"rs886041250"
"0000002410"	"0"	"90"	"14"	"24249477"	"24249477"	"del"	"0"	"00004"	"TGM1_000002"	"g.24249477delG"	"1/17"	"{PMID:Sanae Numata et al.(2015):25766764}"	""	""	"rs1064794659"
"0000002411"	"0"	"90"	"14"	"24261783"	"24261783"	"subst"	"0"	"00004"	"TGM1_000003"	"g.24261783T>C"	"1/17"	"{PMID:Sanae Numata et al.(2015):25766764}"	""	""	"rs139208806"
"0000002412"	"0"	"90"	"14"	"24259164"	"24259164"	"subst"	"0"	"00004"	"TGM1_000004"	"g.24259164C>T"	"1/17"	"{PMID:Sanae Numata et al.(2015):25766764}"	""	""	"rs143444882"
"0000002414"	"0"	"90"	"14"	"24260657"	"24260657"	"subst"	"0"	"00004"	"TGM1_000005"	"g.24260657G>A"	"1/17"	"{PMID:Sanae Numata et al.(2015):25766764}"	""	""	"rs200517023"
"0000002415"	"0"	"90"	"14"	"24259703"	"24259703"	"subst"	"0"	"00004"	"TGM1_000006"	"g.24259703C>T"	"1/17"	"{PMID:Sanae Numata et al.(2015):25766764}"	""	""	"rs577027430"


## 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 TGM1
## Count = 6
"{{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/VariantOnTranscript}}"
"0000002409"	"00000395"	"90"	"379"	"0"	"379"	"0"	"c.379C>T"	""	"p.(Arg127*)"	"r.(?)"	""	"Pathogenic"
"0000002410"	"00000395"	"90"	"2290"	"0"	"2290"	"0"	"c.2290delC"	""	"p.(Arg764Alafs*42)"	"r.(?)"	""	""
"0000002411"	"00000395"	"90"	"420"	"0"	"420"	"0"	"c.420A>G"	""	"p.(Ile140Met)"	"r.(?)"	""	"Likely pathogenic"
"0000002412"	"00000395"	"90"	"1070"	"0"	"1070"	"0"	"c.1070G>A"	""	"p.(Gly357Asp)"	"r.(?)"	""	""
"0000002414"	"00000395"	"90"	"550"	"0"	"550"	"0"	"c.550C>T"	""	"p.(Pro184Ser)"	"r.(?)"	""	"Conflicting interpretations of pathogenicity"
"0000002415"	"00000395"	"90"	"984"	"1"	"984"	"1"	"c.984+1G>A"	""	"p.?"	"r.spl?"	""	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{variantid}}"
"0000000568"	"0000002409"
"0000000568"	"0000002410"
"0000000569"	"0000002411"
"0000000569"	"0000002412"
"0000000571"	"0000002414"
"0000000571"	"0000002415"