### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = PBRM1)
# 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}}"
"PBRM1"	"polybromo 1"	"3"	"p21"	"unknown"	"NG_032108.1"	"UD_132464914774"	""	"https://www.LOVD.nl/PBRM1"	""	"1"	"30064"	"55193"	"606083"	"1"	"1"	"1"	"1"	"Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	"g"	"https://databases.lovd.nl/shared/refseq/PBRM1_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2012-02-23 00:00:00"	"00006"	"2023-04-07 12:29:40"	"00000"	"2025-10-10 20:55:03"


## 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}}"
"00024287"	"PBRM1"	"polybromo 1"	"001"	"NM_018313.4"	""	"NP_060783.3"	""	""	""	"-114"	"7460"	"4749"	"52719866"	"52579368"	"00006"	"2017-07-04 21:12:35"	""	""


## 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}}"
"00764"	"RCC"	"carcinoma, renal cell (RCC)"	""	""	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2015-12-08 23:50:05"
"03381"	"cancer, gastric"	"cancer, gastric (Neoplasm of stomach)"	""	"613659"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2017-07-14 15:28:09"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"PBRM1"	"00764"


## Individuals ## Do not remove or alter this header ##
## Count = 2
"{{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}}"
"00104034"	""	""	""	"1"	""	"00587"	"{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}"	"54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer"	""	""	""	""	"0"	""	""	""	"Vogelaar-755A"
"00434787"	""	""	""	"1"	""	"00006"	"{PMID:Chen 2022:34906496}"	""	""	""	""	""	"0"	""	""	""	"PatN5"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00104034"	"03381"
"00434787"	"05611"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00764, 03381, 05611
## Count = 2
"{{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}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000081968"	"03381"	"00104034"	"00587"	"Unknown"	""	"diffuse-type or intestinal-type gastric cancer"	""	""	""	""	""	""	""	""	""	""
"0000325033"	"05611"	"00434787"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""


## Screenings ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000104505"	"00104034"	"1"	"00587"	"00006"	"2017-04-28 08:15:46"	""	""	"SEQ-NG"	"DNA"	""	""
"0000436259"	"00434787"	"1"	"00006"	"00006"	"2023-04-07 12:30:28"	""	""	"SEQ-NG"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 0


## 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 = 16
"{{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}}"
"0000169418"	"0"	"70"	"3"	"52651370"	"52651370"	"subst"	"4.0626E-6"	"00587"	"PBRM1_000001"	"g.52651370G>A"	""	"{PMID:Vogelaar 2017:28875981}, {DOI:Vogelaar 2017:10.1038/ejhg.2017.138}"	""	"NM_181042.4(PBRM1):c.1726C>T p.(Arg576Cys)"	"variant could not be associated with disease phenotype"	"Germline"	""	""	"0"	""	""	"g.52617354G>A"	""	"likely pathogenic"	""
"0000253776"	"0"	"10"	"3"	"52676078"	"52676078"	"del"	"0"	"01943"	"PBRM1_000004"	"g.52676078del"	""	""	""	"PBRM1(NM_018313.4):c.996-5delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.52642062del"	""	"benign"	""
"0000305061"	"0"	"30"	"3"	"52661345"	"52661345"	"subst"	"8.12876E-5"	"01943"	"PBRM1_000003"	"g.52661345G>A"	""	""	""	"PBRM1(NM_018313.4):c.1485C>T (p.D495=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.52627329G>A"	""	"likely benign"	""
"0000305062"	"0"	"30"	"3"	"52620536"	"52620536"	"subst"	"0.000203044"	"01943"	"PBRM1_000002"	"g.52620536C>A"	""	""	""	"PBRM1(NM_018313.4):c.3217G>T (p.A1073S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.52586520C>A"	""	"likely benign"	""
"0000911979"	"0"	"30"	"3"	"52676065"	"52676065"	"subst"	"0"	"02326"	"PBRM1_000007"	"g.52676065C>T"	""	""	""	"PBRM1(NM_001350077.2):c.1050-5_1050-4delTGinsTA"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000922619"	"0"	"90"	"3"	"52651557"	"52651557"	"subst"	"0"	"00006"	"PBRM1_000008"	"g.52651557G>C"	""	"{PMID:Chen 2022:34906496}"	""	""	"candidate disease gene"	"De novo"	""	""	"0"	""	""	"g.52617541G>C"	""	"likely pathogenic (!)"	""
"0001024849"	"0"	"50"	"3"	"52724613"	"52724613"	"subst"	"0"	"02325"	"GNL3_000004"	"g.52724613G>A"	""	""	""	"GNL3(NM_014366.5):c.547G>A (p.V183I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001047230"	"0"	"10"	"3"	"52610513"	"52610513"	"subst"	"0.0435453"	"03779"	"PBRM1_000010"	"g.52610513T>C"	""	""	""	""	""	"Unknown"	""	"rs2028220"	"0"	""	""	""	""	"benign"	""
"0001047231"	"0"	"10"	"3"	"52637439"	"52637439"	"subst"	"0"	"03779"	"PBRM1_000011"	"g.52637439T>C"	""	""	""	""	""	"Unknown"	""	"rs17052322"	"0"	""	""	""	""	"benign"	""
"0001047233"	"0"	"10"	"3"	"52643343"	"52643343"	"subst"	"0.00243249"	"03779"	"PBRM1_000012"	"g.52643343T>G"	""	""	""	""	""	"Unknown"	""	"rs142197601"	"0"	""	""	""	""	"benign"	""
"0001047234"	"0"	"10"	"3"	"52668638"	"52668638"	"subst"	"0.0412848"	"03779"	"PBRM1_000013"	"g.52668638G>A"	""	""	""	""	""	"Unknown"	""	"rs17052357"	"0"	""	""	""	""	"benign"	""
"0001047235"	"0"	"30"	"3"	"52676128"	"52676128"	"subst"	"0"	"03779"	"PBRM1_000014"	"g.52676128A>G"	""	""	""	""	""	"Unknown"	""	"rs565602361"	"0"	""	""	""	""	"likely benign"	""
"0001047236"	"0"	"30"	"3"	"52678531"	"52678531"	"subst"	"0"	"03779"	"PBRM1_000015"	"g.52678531G>C"	""	""	""	""	""	"Unknown"	""	"rs56134416"	"0"	""	""	""	""	"likely benign"	""
"0001047237"	"0"	"10"	"3"	"52712459"	"52712459"	"subst"	"0"	"03779"	"PBRM1_000016"	"g.52712459T>C"	""	""	""	""	""	"Unknown"	""	"rs6796577"	"0"	""	""	""	""	"benign"	""
"0001047292"	"0"	"10"	"3"	"52637631"	"52637631"	"subst"	"0.0204711"	"03779"	"PBRM1_000017"	"g.52637631T>C"	""	""	""	""	""	"Unknown"	""	"rs34341044"	"0"	""	""	""	""	"benign"	""
"0001049125"	"0"	"30"	"3"	"52637885"	"52637885"	"subst"	"0"	"03779"	"PBRM1_000018"	"g.52637885C>T"	""	""	""	""	""	"Unknown"	""	"rs1176875788"	"0"	""	""	""	""	"likely benign"	""


## 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 PBRM1
## Count = 16
"{{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}}"
"0000169418"	"00024287"	"00"	"1726"	"0"	"1726"	"0"	"c.1726C>T"	"r.(?)"	"p.(Arg576Cys)"	""
"0000253776"	"00024287"	"10"	"996"	"-5"	"996"	"-5"	"c.996-5del"	"r.spl?"	"p.?"	""
"0000305061"	"00024287"	"30"	"1485"	"0"	"1485"	"0"	"c.1485C>T"	"r.(?)"	"p.(Asp495=)"	""
"0000305062"	"00024287"	"30"	"3217"	"0"	"3217"	"0"	"c.3217G>T"	"r.(?)"	"p.(Ala1073Ser)"	""
"0000911979"	"00024287"	"30"	"996"	"-4"	"996"	"-4"	"c.996-4G>A"	"r.spl?"	"p.?"	""
"0000922619"	"00024287"	"90"	"1542"	"-3"	"1542"	"-3"	"c.1542-3C>G"	"r.spl"	"p.?"	"14i"
"0001024849"	"00024287"	"50"	"-4861"	"0"	"-4861"	"0"	"c.-4861C>T"	"r.(?)"	"p.(=)"	""
"0001047230"	"00024287"	"10"	"3616"	"44"	"3616"	"44"	"c.3616+44A>G"	"r.(?)"	"p.(?)"	""
"0001047231"	"00024287"	"10"	"2779"	"98"	"2779"	"98"	"c.2779+98A>G"	"r.(?)"	"p.(?)"	""
"0001047233"	"00024287"	"10"	"2553"	"0"	"2553"	"0"	"c.2553A>C"	"r.(?)"	"p.(Ala851=)"	""
"0001047234"	"00024287"	"10"	"1281"	"0"	"1281"	"0"	"c.1281C>T"	"r.(?)"	"p.(Pro427=)"	""
"0001047235"	"00024287"	"30"	"996"	"-67"	"996"	"-67"	"c.996-67T>C"	"r.(?)"	"p.(?)"	""
"0001047236"	"00024287"	"30"	"899"	"189"	"899"	"189"	"c.899+189C>G"	"r.(?)"	"p.(?)"	""
"0001047237"	"00024287"	"10"	"236"	"57"	"236"	"57"	"c.236+57A>G"	"r.(?)"	"p.(?)"	""
"0001047292"	"00024287"	"10"	"2685"	"0"	"2685"	"0"	"c.2685A>G"	"r.(?)"	"p.(Thr895=)"	""
"0001049125"	"00024287"	"30"	"2568"	"-137"	"2568"	"-137"	"c.2568-137G>A"	"r.(?)"	"p.(?)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000104505"	"0000169418"
"0000436259"	"0000922619"