### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = OPN1SW)
# 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}}"
"OPN1SW"	"opsin 1 (cone pigments), short-wave-sensitive"	"7"	"q31.3-q32"	"unknown"	"NG_009094.1"	"UD_132118672731"	""	"https://www.LOVD.nl/OPN1SW"	""	"1"	"1012"	"611"	"613522"	"1"	"1"	"1"	"1"	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>\r\nEstablishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by <a href=\'http://www.variome.org\' target=\'_blank\'>Global Variome</a>."	""	"g"	"https://databases.lovd.nl/shared/refseq/OPN1SW_codingDNA.html"	"1"	""	"<font color=\"#FF0000\">This database is one of the <b>\"Eye disease\"</b> gene variant databases.</font>"	"-1"	""	"-1"	"00001"	"2012-07-06 00:00:00"	"00006"	"2020-11-25 19:28:48"	"00000"	"2025-02-07 18:57:27"


## 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}}"
"00015058"	"OPN1SW"	"opsin 1 (cone pigments), short-wave-sensitive"	"001"	"NM_001708.2"	""	"NP_001699.1"	""	""	""	"1"	"1098"	"1047"	"128415844"	"128412543"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 3
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"01592"	"-"	"colorblindness, tritan"	"AD"	"190900"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"04214"	"-"	"retinal disease"	""	""	""	""	""	"00006"	"2015-02-27 19:48:07"	"00001"	"2023-03-09 14:26:26"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"OPN1SW"	"01592"


## Individuals ## Do not remove or alter this header ##
## Count = 11
"{{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}}"
"00050581"	""	""	""	"1"	""	"00006"	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	"family, 1 affected"	"F"	""	"United Kingdom (Great Britain)"	""	"0"	"Decipher"	""	""	""
"00328411"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2018:29453956}"	""	""	""	"China"	""	"0"	""	""	""	"691004"
"00328412"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2018:29453956}"	""	""	""	"China"	""	"0"	""	""	""	"680376"
"00328430"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2018:29453956}"	""	""	""	"China"	""	"0"	""	""	""	"680702"
"00328431"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2018:29453956}"	""	""	""	"China"	""	"0"	""	""	""	"690915M"
"00363367"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2015:26747767}"	"proband"	""	""	"China"	""	"0"	""	""	""	"HM640"
"00363388"	""	""	""	"1"	""	"00000"	"{PMID:Sun 2015:26747767}"	"proband"	""	""	"China"	""	"0"	""	""	""	"HM435"
"00379421"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2011:29453956}"	""	""	""	"China"	""	"0"	""	""	""	""
"00379422"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2011:29453956}"	""	""	""	"China"	""	"0"	""	""	""	""
"00379443"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2011:29453956}"	""	""	""	"China"	""	"0"	""	""	""	""
"00379444"	""	""	""	"1"	""	"00000"	"{PMID:Zhou 2011:29453956}"	""	""	""	"China"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 11
"{{individualid}}"	"{{diseaseid}}"
"00050581"	"00198"
"00328411"	"04214"
"00328412"	"04214"
"00328430"	"04214"
"00328431"	"04214"
"00363367"	"04214"
"00363388"	"04214"
"00379421"	"04214"
"00379422"	"04214"
"00379443"	"04214"
"00379444"	"04214"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 01592, 04214
## Count = 11
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000037193"	"00198"	"00050581"	"00006"	"Isolated (sporadic)"	""	"patent ductus arteriosus, midline central nervous system lipomas, global developmental delay, abnormality of the sclera, short philtrum"	""	""	""	""	""	""	""	""	""	""	""
"0000246637"	"04214"	"00328411"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia"	""
"0000246638"	"04214"	"00328412"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"late-onset high myopia"	""
"0000246656"	"04214"	"00328430"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"late-onset high myopia"	""
"0000246657"	"04214"	"00328431"	"00006"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia"	""
"0000258732"	"04214"	"00363367"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early onset high myopia"	""
"0000258753"	"04214"	"00363388"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early onset high myopia"	""
"0000273294"	"04214"	"00379421"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia (eoHM)"	""
"0000273295"	"04214"	"00379422"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"late-onset high myopia (loHM)"	""
"0000273316"	"04214"	"00379443"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"late-onset high myopia (loHM)"	""
"0000273317"	"04214"	"00379444"	"00000"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	"early-onset high myopia (eoHM)"	""


## Screenings ## Do not remove or alter this header ##
## Count = 11
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000050526"	"00050581"	"1"	"00006"	"00006"	"2015-09-27 16:16:40"	""	""	"SEQ;SEQ-NG-I"	"DNA"	""	""
"0000329625"	"00328411"	"1"	"00000"	"00006"	"2021-01-27 14:27:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329626"	"00328412"	"1"	"00000"	"00006"	"2021-01-27 14:27:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329644"	"00328430"	"1"	"00000"	"00006"	"2021-01-27 14:27:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000329645"	"00328431"	"1"	"00000"	"00006"	"2021-01-27 14:27:38"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000364595"	"00363367"	"1"	"00000"	"00006"	"2021-04-26 18:22:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000364616"	"00363388"	"1"	"00000"	"00006"	"2021-04-26 18:22:04"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000380621"	"00379421"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	"WES"
"0000380622"	"00379422"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	"WES"
"0000380643"	"00379443"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	"WES"
"0000380644"	"00379444"	"1"	"00000"	"00008"	"2021-08-05 00:17:46"	""	""	"SEQ"	"DNA"	"blood"	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 10
"{{screeningid}}"	"{{geneid}}"
"0000329625"	"OPN1SW"
"0000329626"	"OPN1SW"
"0000329644"	"OPN1SW"
"0000329645"	"OPN1SW"
"0000364595"	"OPN1SW"
"0000364616"	"OPN1SW"
"0000380621"	"OPN1SW"
"0000380622"	"OPN1SW"
"0000380643"	"OPN1SW"
"0000380644"	"OPN1SW"


## 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 = 38
"{{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}}"
"0000079506"	"0"	"90"	"7"	"121000064"	"135573959"	"del"	"0"	"00006"	"IMPDH1_000003"	"g.121000064_135573959del"	""	"{PMID:DDDS 2015:25533962}, {DOI:DDDS 2015:10.1038/nature14135}"	""	""	"decreased gene dosage"	"De novo"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000246579"	"0"	"10"	"7"	"128415716"	"128415716"	"subst"	"1.62641E-5"	"02330"	"OPN1SW_000008"	"g.128415716A>G"	""	""	""	"OPN1SW(NM_001385125.1):c.120T>C (p.T40=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.128775662A>G"	""	"benign"	""
"0000293387"	"0"	"30"	"7"	"128412618"	"128412618"	"subst"	"0.00125892"	"02330"	"CALU_000001"	"g.128412618C>A"	""	""	""	"OPN1SW(NM_001385125.1):c.1014G>T (p.S338=), OPN1SW(NM_001708.2):c.1023G>T (p.S341=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.128772564C>A"	""	"likely benign"	""
"0000293388"	"0"	"50"	"7"	"128415610"	"128415610"	"subst"	"0.000332995"	"02330"	"OPN1SW_000006"	"g.128415610C>T"	""	""	""	"OPN1SW(NM_001385125.1):c.226G>A (p.G76R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.128775556C>T"	""	"VUS"	""
"0000293389"	"0"	"10"	"7"	"128415072"	"128415072"	"subst"	"4.07677E-6"	"02330"	"OPN1SW_000002"	"g.128415072G>A"	""	""	""	"OPN1SW(NM_001385125.1):c.480C>T (p.G160=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.128775018G>A"	""	"benign"	""
"0000293390"	"0"	"10"	"7"	"128413726"	"128413726"	"subst"	"0.00176274"	"02330"	"OPN1SW_000001"	"g.128413726T>C"	""	""	""	"OPN1SW(NM_001385125.1):c.895A>G (p.I299V), OPN1SW(NM_001708.2):c.904A>G (p.I302V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.128773672T>C"	""	"benign"	""
"0000296686"	"0"	"10"	"7"	"128415860"	"128415860"	"subst"	"0.285388"	"02325"	"CALU_000007"	"g.128415860C>T"	""	""	""	"OPN1SW(NM_001385125.1):c.-25G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.128775806C>T"	""	"benign"	""
"0000296687"	"0"	"10"	"7"	"128415195"	"128415195"	"subst"	"0.301498"	"02325"	"OPN1SW_000004"	"g.128415195T>G"	""	""	""	"OPN1SW(NM_001385125.1):c.357A>C (p.G119=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.128775141T>G"	""	"benign"	""
"0000304803"	"0"	"30"	"7"	"128415814"	"128415814"	"subst"	"0.0070549"	"01943"	"OPN1SW_000007"	"g.128415814G>A"	""	""	""	"OPN1SW(NM_001708.2):c.31C>T (p.L11=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.128775760G>A"	""	"likely benign"	""
"0000304804"	"0"	"50"	"7"	"128415199"	"128415199"	"subst"	"0"	"01943"	"OPN1SW_000005"	"g.128415199G>A"	""	""	""	"OPN1SW(NM_001708.2):c.362C>T (p.T121I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.128775145G>A"	""	"VUS"	""
"0000304805"	"0"	"30"	"7"	"128413726"	"128413726"	"subst"	"0.00176274"	"01943"	"OPN1SW_000001"	"g.128413726T>C"	""	""	""	"OPN1SW(NM_001385125.1):c.895A>G (p.I299V), OPN1SW(NM_001708.2):c.904A>G (p.I302V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.128773672T>C"	""	"likely benign"	""
"0000331857"	"0"	"50"	"7"	"128412709"	"128412709"	"subst"	"0.000134053"	"01804"	"CALU_000002"	"g.128412709T>C"	""	""	""	"OPN1SW(NM_001385125.1):c.923A>G (p.Q308R), OPN1SW(NM_001708.2):c.932A>G (p.(Gln311Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.128772655T>C"	""	"VUS"	""
"0000331858"	"0"	"50"	"7"	"128415131"	"128415131"	"subst"	"0.000333444"	"01804"	"OPN1SW_000003"	"g.128415131G>A"	""	""	""	"OPN1SW(NM_001385125.1):c.421C>T (p.R141C), OPN1SW(NM_001708.2):c.430C>T (p.(Arg144Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.128775077G>A"	""	"VUS"	""
"0000530631"	"0"	"30"	"7"	"128414547"	"128414547"	"del"	"0.00135093"	"02330"	"CALU_000003"	"g.128414547del"	""	""	""	"OPN1SW(NM_001385125.1):c.678+5delG, OPN1SW(NM_001708.2):c.687+5delG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.128774493del"	""	"likely benign"	""
"0000530632"	"0"	"50"	"7"	"128414547"	"128414547"	"del"	"0.00135093"	"01943"	"CALU_000003"	"g.128414547del"	""	""	""	"OPN1SW(NM_001385125.1):c.678+5delG, OPN1SW(NM_001708.2):c.687+5delG"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.128774493del"	""	"VUS"	""
"0000530633"	"0"	"50"	"7"	"128414637"	"128414637"	"subst"	"1.62451E-5"	"01943"	"CALU_000004"	"g.128414637G>A"	""	""	""	"OPN1SW(NM_001708.2):c.602C>T (p.T201M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.128774583G>A"	""	"VUS"	""
"0000530634"	"0"	"10"	"7"	"128414684"	"128414684"	"subst"	"0"	"02330"	"CALU_000005"	"g.128414684G>A"	""	""	""	"OPN1SW(NM_001385125.1):c.546C>T (p.G182=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.128774630G>A"	""	"benign"	""
"0000530635"	"0"	"10"	"7"	"128414702"	"128414702"	"subst"	"0.000255912"	"02330"	"CALU_000006"	"g.128414702G>A"	""	""	""	"OPN1SW(NM_001385125.1):c.528C>T (p.G176=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.128774648G>A"	""	"benign"	""
"0000655736"	"0"	"30"	"7"	"128415663"	"128415663"	"subst"	"6.49762E-5"	"01943"	"CALU_000009"	"g.128415663C>T"	""	""	""	"OPN1SW(NM_001708.2):c.182G>A (p.R61H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.128775609C>T"	""	"likely benign"	""
"0000689898"	"0"	"50"	"7"	"128413783"	"128413783"	"subst"	"0.000101525"	"01943"	"CALU_000010"	"g.128413783G>C"	""	""	""	"OPN1SW(NM_001708.2):c.847C>G (p.R283G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000713973"	"1"	"70"	"7"	"128412686"	"128412686"	"subst"	"4.06177E-6"	"00000"	"OPN1SW_000009"	"g.128412686A>G"	""	"{PMID:Zhou 2018:29453956}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.128772632A>G"	""	"likely pathogenic (dominant)"	""
"0000713974"	"1"	"70"	"7"	"128413855"	"128413855"	"subst"	"0"	"00000"	"OPN1SW_000012"	"g.128413855A>G"	""	"{PMID:Zhou 2018:29453956}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.128773801A>G"	""	"likely pathogenic (dominant)"	""
"0000713992"	"1"	"50"	"7"	"128413803"	"128413803"	"subst"	"2.84282E-5"	"00000"	"OPN1SW_000010"	"g.128413803C>T"	""	"{PMID:Zhou 2018:29453956}"	""	""	""	"Germline"	""	"rs375615377"	"0"	""	""	"g.128773749C>T"	""	"VUS"	""
"0000713993"	"1"	"50"	"7"	"128413815"	"128413815"	"subst"	"6.49762E-5"	"00000"	"OPN1SW_000011"	"g.128413815A>G"	""	"{PMID:Zhou 2018:29453956}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.128773761A>G"	""	"VUS"	""
"0000721223"	"0"	"30"	"7"	"128412618"	"128412618"	"subst"	"0.00125892"	"01943"	"CALU_000001"	"g.128412618C>A"	""	""	""	"OPN1SW(NM_001385125.1):c.1014G>T (p.S338=), OPN1SW(NM_001708.2):c.1023G>T (p.S341=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000765460"	"1"	"70"	"7"	"128412686"	"128412686"	"subst"	"4.06177E-6"	"00000"	"OPN1SW_000009"	"g.128412686A>G"	"1/596 chromosomes"	"{PMID:Sun 2015:26747767}"	""	""	"not in 624 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.128772632A>G"	""	"likely pathogenic"	""
"0000765481"	"1"	"70"	"7"	"128415649"	"128415649"	"subst"	"3.24884E-5"	"00000"	"OPN1SW_000013"	"g.128415649G>A"	"1/596 chromosomes"	"{PMID:Sun 2015:26747767}"	""	""	"not in 624 control chromosomes"	"Germline"	""	"rs373496991"	"0"	""	""	"g.128775595G>A"	""	"likely pathogenic"	""
"0000793773"	"0"	"70"	"7"	"128412686"	"128412686"	"subst"	"4.06177E-6"	"00000"	"OPN1SW_000009"	"g.128412686A>G"	""	"{PMID:Zhou-2011:21677794}"	""	"c.955T>C"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793774"	"0"	"70"	"7"	"128413855"	"128413855"	"subst"	"0"	"00000"	"OPN1SW_000012"	"g.128413855A>G"	""	"{PMID:Zhou-2011:21677794}"	""	"c.775T>C"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000793795"	"0"	"70"	"7"	"128413803"	"128413803"	"subst"	"2.84282E-5"	"00000"	"OPN1SW_000010"	"g.128413803C>T"	""	"{PMID:Zhou-2011:21677794}"	""	"c.827G>A"	""	"Unknown"	""	"rs375615377"	"0"	""	""	""	""	"likely pathogenic"	""
"0000793796"	"0"	"70"	"7"	"128413815"	"128413815"	"subst"	"6.49762E-5"	"00000"	"OPN1SW_000011"	"g.128413815A>G"	""	"{PMID:Zhou-2011:21677794}"	""	"c.815T>C"	""	"Unknown"	""	""	"0"	""	""	""	""	"likely pathogenic"	""
"0000851400"	"0"	"30"	"7"	"128415071"	"128415071"	"subst"	"0.00218115"	"01943"	"CALU_000011"	"g.128415071C>T"	""	""	""	"OPN1SW(NM_001385125.1):c.481G>A (p.V161I), OPN1SW(NM_001708.2):c.490G>A (p.V164I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000851401"	"0"	"30"	"7"	"128415554"	"128415554"	"subst"	"0.000170637"	"02330"	"CALU_000012"	"g.128415554G>A"	""	""	""	"OPN1SW(NM_001385125.1):c.282C>T (p.N94=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000860614"	"0"	"30"	"7"	"128412709"	"128412709"	"subst"	"0.000134053"	"02330"	"CALU_000002"	"g.128412709T>C"	""	""	""	"OPN1SW(NM_001385125.1):c.923A>G (p.Q308R), OPN1SW(NM_001708.2):c.932A>G (p.(Gln311Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000860615"	"0"	"30"	"7"	"128415131"	"128415131"	"subst"	"0.000333444"	"02330"	"OPN1SW_000003"	"g.128415131G>A"	""	""	""	"OPN1SW(NM_001385125.1):c.421C>T (p.R141C), OPN1SW(NM_001708.2):c.430C>T (p.(Arg144Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000860616"	"0"	"30"	"7"	"128415611"	"128415611"	"subst"	"0.000174624"	"01943"	"CALU_000013"	"g.128415611G>A"	""	""	""	"OPN1SW(NM_001708.2):c.234C>T (p.F78=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000929277"	"0"	"30"	"7"	"128415071"	"128415071"	"subst"	"0.00218115"	"02330"	"CALU_000011"	"g.128415071C>T"	""	""	""	"OPN1SW(NM_001385125.1):c.481G>A (p.V161I), OPN1SW(NM_001708.2):c.490G>A (p.V164I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001025311"	"0"	"50"	"7"	"128413840"	"128413840"	"subst"	"2.84303E-5"	"02330"	"CALU_000014"	"g.128413840G>A"	""	""	""	"OPN1SW(NM_001385125.1):c.781C>T (p.P261S)"	"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 OPN1SW
## Count = 38
"{{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}}"
"0000079506"	"00015058"	"00"	"-7158115"	"0"	"7413577"	"0"	"c.-7158115_*7412530del"	"r.0?"	"p.0?"	""
"0000246579"	"00015058"	"10"	"129"	"0"	"129"	"0"	"c.129T>C"	"r.(?)"	"p.(Thr43=)"	""
"0000293387"	"00015058"	"30"	"1023"	"0"	"1023"	"0"	"c.1023G>T"	"r.(?)"	"p.(Ser341=)"	""
"0000293388"	"00015058"	"50"	"235"	"0"	"235"	"0"	"c.235G>A"	"r.(?)"	"p.(Gly79Arg)"	""
"0000293389"	"00015058"	"10"	"489"	"0"	"489"	"0"	"c.489C>T"	"r.(?)"	"p.(Gly163=)"	""
"0000293390"	"00015058"	"10"	"904"	"0"	"904"	"0"	"c.904A>G"	"r.(?)"	"p.(Ile302Val)"	""
"0000296686"	"00015058"	"10"	"-16"	"0"	"-16"	"0"	"c.-16G>A"	"r.(?)"	"p.(=)"	""
"0000296687"	"00015058"	"10"	"366"	"0"	"366"	"0"	"c.366A>C"	"r.(?)"	"p.(Gly122=)"	""
"0000304803"	"00015058"	"30"	"31"	"0"	"31"	"0"	"c.31C>T"	"r.(?)"	"p.(Leu11=)"	""
"0000304804"	"00015058"	"50"	"362"	"0"	"362"	"0"	"c.362C>T"	"r.(?)"	"p.(Thr121Ile)"	""
"0000304805"	"00015058"	"30"	"904"	"0"	"904"	"0"	"c.904A>G"	"r.(?)"	"p.(Ile302Val)"	""
"0000331857"	"00015058"	"50"	"932"	"0"	"932"	"0"	"c.932A>G"	"r.(?)"	"p.(Gln311Arg)"	""
"0000331858"	"00015058"	"50"	"430"	"0"	"430"	"0"	"c.430C>T"	"r.(?)"	"p.(Arg144Cys)"	""
"0000530631"	"00015058"	"30"	"687"	"5"	"687"	"5"	"c.687+5del"	"r.spl?"	"p.?"	""
"0000530632"	"00015058"	"50"	"687"	"5"	"687"	"5"	"c.687+5del"	"r.spl?"	"p.?"	""
"0000530633"	"00015058"	"50"	"602"	"0"	"602"	"0"	"c.602C>T"	"r.(?)"	"p.(Thr201Met)"	""
"0000530634"	"00015058"	"10"	"555"	"0"	"555"	"0"	"c.555C>T"	"r.(?)"	"p.(Gly185=)"	""
"0000530635"	"00015058"	"10"	"537"	"0"	"537"	"0"	"c.537C>T"	"r.(?)"	"p.(Gly179=)"	""
"0000655736"	"00015058"	"30"	"182"	"0"	"182"	"0"	"c.182G>A"	"r.(?)"	"p.(Arg61His)"	""
"0000689898"	"00015058"	"50"	"847"	"0"	"847"	"0"	"c.847C>G"	"r.(?)"	"p.(Arg283Gly)"	""
"0000713973"	"00015058"	"70"	"955"	"0"	"955"	"0"	"c.955T>C"	"r.(?)"	"p.(Cys319Arg)"	""
"0000713974"	"00015058"	"70"	"775"	"0"	"775"	"0"	"c.775T>C"	"r.(?)"	"p.(Cys259Arg)"	""
"0000713992"	"00015058"	"50"	"827"	"0"	"827"	"0"	"c.827G>A"	"r.(?)"	"p.(Arg276His)"	""
"0000713993"	"00015058"	"50"	"815"	"0"	"815"	"0"	"c.815T>C"	"r.(?)"	"p.(Met272Thr)"	""
"0000721223"	"00015058"	"30"	"1023"	"0"	"1023"	"0"	"c.1023G>T"	"r.(?)"	"p.(Ser341=)"	""
"0000765460"	"00015058"	"70"	"955"	"0"	"955"	"0"	"c.955T>C"	"r.(?)"	"p.(Cys319Arg)"	""
"0000765481"	"00015058"	"70"	"196"	"0"	"196"	"0"	"c.196C>T"	"r.(?)"	"p.(Arg66Trp)"	""
"0000793773"	"00015058"	"70"	"955"	"0"	"955"	"0"	"c.955T>C"	"r.(?)"	"p.(Cys319Arg)"	"5"
"0000793774"	"00015058"	"70"	"775"	"0"	"775"	"0"	"c.775T>C"	"r.(?)"	"p.(Cys259Arg)"	"4"
"0000793795"	"00015058"	"70"	"827"	"0"	"827"	"0"	"c.827G>A"	"r.(?)"	"p.(Arg276His)"	"4"
"0000793796"	"00015058"	"70"	"815"	"0"	"815"	"0"	"c.815T>C"	"r.(?)"	"p.(Met272Thr)"	"4"
"0000851400"	"00015058"	"30"	"490"	"0"	"490"	"0"	"c.490G>A"	"r.(?)"	"p.(Val164Ile)"	""
"0000851401"	"00015058"	"30"	"291"	"0"	"291"	"0"	"c.291C>T"	"r.(?)"	"p.(=)"	""
"0000860614"	"00015058"	"30"	"932"	"0"	"932"	"0"	"c.932A>G"	"r.(?)"	"p.(Gln311Arg)"	""
"0000860615"	"00015058"	"30"	"430"	"0"	"430"	"0"	"c.430C>T"	"r.(?)"	"p.(Arg144Cys)"	""
"0000860616"	"00015058"	"30"	"234"	"0"	"234"	"0"	"c.234C>T"	"r.(?)"	"p.(=)"	""
"0000929277"	"00015058"	"30"	"490"	"0"	"490"	"0"	"c.490G>A"	"r.(?)"	"p.(Val164Ile)"	""
"0001025311"	"00015058"	"50"	"790"	"0"	"790"	"0"	"c.790C>T"	"r.(?)"	"p.(Pro264Ser)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 11
"{{screeningid}}"	"{{variantid}}"
"0000050526"	"0000079506"
"0000329625"	"0000713973"
"0000329626"	"0000713974"
"0000329644"	"0000713992"
"0000329645"	"0000713993"
"0000364595"	"0000765460"
"0000364616"	"0000765481"
"0000380621"	"0000793773"
"0000380622"	"0000793774"
"0000380643"	"0000793795"
"0000380644"	"0000793796"