### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = FAM111B)
# 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}}"
"FAM111B"	"family with sequence similarity 111, member B"	"11"	"q12.1"	"unknown"	"NC_000011.9"	"UD_136086936843"	""	"http://www.LOVD.nl/FAM111B"	""	"1"	"24200"	"374393"	"615584"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/FAM111B_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2015-01-23 16:43:37"	"00000"	"2025-05-05 21:14:00"


## 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}}"
"00007545"	"FAM111B"	"transcript variant 1"	"001"	"NM_198947.3"	""	"NP_945185.1"	""	""	""	"-243"	"3318"	"2205"	"58874658"	"58894888"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{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"
"04052"	"POIKTMP"	"poikiloderma, hereditary fibrosing, tendon contractures, myopathy, pulmonary fibrosis (POIKTMP)"	"AD"	"615704"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-11-24 14:16:49"


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"FAM111B"	"04052"


## 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}}"
"00029685"	""	""	""	"1"	""	"01197"	"{PMID:Mercier, Küry, Shaboodien, Houniet  2013:24268661}, {DOI:Mercier, Küry, Shaboodien, Houniet et al (2013):10.1016/j.ajhg.2013.10.013}"	"2-generation family, 1 affected, 3 unaffected non-carriers"	"M"	"no"	"France"	""	"0"	""	""	"white"	""
"00320137"	""	""	""	"1"	""	"01807"	""	""	"M"	""	""	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{individualid}}"	"{{diseaseid}}"
"00029685"	"04052"
"00320137"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 04052
## Count = 2
"{{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}}"
"0000025696"	"04052"	"00029685"	"01197"	"Isolated (sporadic)"	"00y01m"	"Photodistributed poikiloderma, eczematous lesions of the hands and feet, alopecia, heat intolerance, hypohidrosis. Progressive muscle weakness and tendon contractures of both feet. Myogenic pattern of the lower limbs (by EMG), diffuse fatty infiltration of skeletal muscle (by MRI)."	""	""	""	""	""	""	""	""	""	""	""
"0000242183"	"00198"	"00320137"	"01807"	"Unknown"	""	"Sparse and thin eyebrow (HP:0000535); Sparse eyelashes (HP:0000653); Muscle weakness (HP:0001324); Sparse scalp hair (HP:0002209); Hypocalcemia (HP:0002901); Hypomagnesemia (HP:0002917); Severe photosensitivity (HP:0007537)"	""	""	""	""	""	""	""	""	""	""	""


## 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}}"
"0000029732"	"00029685"	"1"	"01197"	"01197"	"2015-01-27 15:10:33"	""	""	"SEQ-NG-I"	"DNA"	"blood"	""
"0000321322"	"00320137"	"1"	"01807"	"01807"	"2020-11-23 17:34:12"	""	""	"SEQ"	"DNA"	""	""


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000029732"	"FAM111B"


## 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 = 13
"{{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}}"
"0000053134"	"0"	"97"	"11"	"58893449"	"58893449"	"subst"	"0"	"01197"	"FAM111B_000001"	"g.58893449A>G"	""	""	""	""	"De novo mutation (confirmed by Sanger sequencing); absent in 388 healthy controls, including 96 Algerian,\r\n127 Moroccan (half Berber and half Arab), and 165 South African (93 of white European origin and 72 of mixed ancestry)"	"De novo"	"-"	"rs587777237"	"0"	""	""	"g.59125976A>G"	""	"pathogenic"	""
"0000276543"	"0"	"90"	"11"	"58893451"	"58893453"	"del"	"0"	"01943"	"FAM111B_000004"	"g.58893451_58893453del"	""	""	""	"FAM111B(NM_198947.3):c.1881_1883delAAG (p.R627del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.59125978_59125980del"	""	"pathogenic"	""
"0000276544"	"0"	"50"	"11"	"58892090"	"58892090"	"subst"	"0.000163062"	"01943"	"FAM111B_000002"	"g.58892090C>T"	""	""	""	"FAM111B(NM_198947.3):c.520C>T (p.R174C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.59124617C>T"	""	"VUS"	""
"0000544653"	"0"	"30"	"11"	"58892291"	"58892291"	"subst"	"6.10794E-5"	"01943"	"FAM111B_000008"	"g.58892291A>C"	""	""	""	"FAM111B(NM_198947.3):c.721A>C (p.K241Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.59124818A>C"	""	"likely benign"	""
"0000613461"	"0"	"50"	"11"	"58877154"	"58877154"	"subst"	"4.07568E-6"	"02327"	"FAM111B_000009"	"g.58877154A>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.59109681A>C"	""	"VUS"	""
"0000613462"	"0"	"30"	"11"	"58891682"	"58891682"	"subst"	"1.22699E-5"	"01943"	"FAM111B_000010"	"g.58891682A>G"	""	""	""	"FAM111B(NM_198947.3):c.112A>G (p.T38A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.59124209A>G"	""	"likely benign"	""
"0000704151"	"0"	"70"	"11"	"58893431"	"58893431"	"subst"	"0"	"01807"	"FAM111B_000011"	"g.58893431T>G"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic (dominant)"	""
"0000805199"	"0"	"50"	"11"	"58892386"	"58892386"	"dup"	"0"	"01943"	"FAM111B_000012"	"g.58892386dup"	""	""	""	"FAM111B(NM_198947.3):c.816dupA (p.A273Sfs*9)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000805200"	"0"	"30"	"11"	"58892923"	"58892923"	"subst"	"0"	"01943"	"FAM111B_000013"	"g.58892923C>G"	""	""	""	"FAM111B(NM_198947.3):c.1353C>G (p.C451W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000805201"	"0"	"30"	"11"	"58893363"	"58893363"	"subst"	"4.07067E-6"	"01943"	"FAM111B_000014"	"g.58893363G>A"	""	""	""	"FAM111B(NM_198947.3):c.1793G>A (p.R598Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000862591"	"0"	"10"	"11"	"58891964"	"58891964"	"del"	"0"	"01943"	"FAM111B_000015"	"g.58891964del"	""	""	""	"FAM111B(NM_198947.3):c.394delT (p.Y132Mfs*6), FAM111B(NM_198947.4):c.394del (p.(Tyr132Metfs*6))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000999166"	"0"	"30"	"11"	"58892015"	"58892015"	"subst"	"8.1493E-6"	"01804"	"FAM111B_000018"	"g.58892015T>C"	""	""	""	"FAM111B(NM_198947.3):c.445T>C (p.(Cys149Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001038532"	"0"	"30"	"11"	"58891964"	"58891964"	"del"	"0"	"01804"	"FAM111B_000015"	"g.58891964del"	""	""	""	"FAM111B(NM_198947.3):c.394delT (p.Y132Mfs*6), FAM111B(NM_198947.4):c.394del (p.(Tyr132Metfs*6))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"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 FAM111B
## Count = 13
"{{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}}"
"0000053134"	"00007545"	"97"	"1879"	"0"	"1879"	"0"	"c.1879A>G"	"r.(?)"	"p.(Arg627Gly)"	"4"
"0000276543"	"00007545"	"90"	"1881"	"0"	"1883"	"0"	"c.1881_1883del"	"r.(?)"	"p.(Arg627del)"	""
"0000276544"	"00007545"	"50"	"520"	"0"	"520"	"0"	"c.520C>T"	"r.(?)"	"p.(Arg174Cys)"	""
"0000544653"	"00007545"	"30"	"721"	"0"	"721"	"0"	"c.721A>C"	"r.(?)"	"p.(Lys241Gln)"	""
"0000613461"	"00007545"	"50"	"56"	"0"	"56"	"0"	"c.56A>C"	"r.(?)"	"p.(Gln19Pro)"	""
"0000613462"	"00007545"	"30"	"112"	"0"	"112"	"0"	"c.112A>G"	"r.(?)"	"p.(Thr38Ala)"	""
"0000704151"	"00007545"	"70"	"1861"	"0"	"1861"	"0"	"c.1861T>G"	"r.(?)"	"p.(Tyr621Asp)"	""
"0000805199"	"00007545"	"50"	"816"	"0"	"816"	"0"	"c.816dup"	"r.(?)"	"p.(Ala273Serfs*9)"	""
"0000805200"	"00007545"	"30"	"1353"	"0"	"1353"	"0"	"c.1353C>G"	"r.(?)"	"p.(Cys451Trp)"	""
"0000805201"	"00007545"	"30"	"1793"	"0"	"1793"	"0"	"c.1793G>A"	"r.(?)"	"p.(Arg598Gln)"	""
"0000862591"	"00007545"	"10"	"394"	"0"	"394"	"0"	"c.394del"	"r.(?)"	"p.(Tyr132Metfs*6)"	""
"0000999166"	"00007545"	"30"	"445"	"0"	"445"	"0"	"c.445T>C"	"r.(?)"	"p.(Cys149Arg)"	""
"0001038532"	"00007545"	"30"	"394"	"0"	"394"	"0"	"c.394del"	"r.(?)"	"p.(Tyr132Metfs*6)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 2
"{{screeningid}}"	"{{variantid}}"
"0000029732"	"0000053134"
"0000321322"	"0000704151"