### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = SPEG)
# 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}}"
"SPEG"	"SPEG complex locus"	"2"	"q35"	"unknown"	"NC_000002.11"	"UD_136017647124"	""	"http://www.LOVD.nl/SPEG"	""	"1"	"16901"	"10290"	"615950"	"1"	"1"	"1"	"1"	""	""	"g"	"http://databases.lovd.nl/shared/refseq/SPEG_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2013-05-03 00:00:00"	"00006"	"2014-12-24 12:42:55"	"00000"	"2026-01-20 18:57:21"


## 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}}"
"00020164"	"SPEG"	"transcript variant 1"	"001"	"NM_005876.4"	""	"NP_005867.3"	""	""	""	"1"	"10650"	"9804"	"220299700"	"220358354"	""	"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}}"
"04168"	"CNM"	"myopathy, centronuclear (CNM)"	""	""	""	""	""	"00006"	"2014-12-24 12:43:57"	"00006"	"2015-05-18 08:55:51"
"04274"	"CNM5"	"myopathy, centronuclear, type 5 (CNM-5)"	"AR"	"615959"	""	""	""	"00006"	"2015-05-18 09:00:48"	"00006"	"2021-12-10 21:51:32"
"05618"	"NMD"	"neuromuscular disorder (NMD)"	""	""	""	""	""	"00006"	"2019-07-02 19:46:12"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 1
"{{geneid}}"	"{{diseaseid}}"
"SPEG"	"04274"


## Individuals ## Do not remove or alter this header ##
## Count = 6
"{{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}}"
"00027184"	""	""	""	"3"	""	"00006"	"{PMID:Agrawal 2014:25087613}"	"2-generation family, 3 affecteds (F), unaffected heterozygous carrier parents and sib"	"F"	"yes"	""	""	"0"	""	""	""	""
"00027185"	""	""	""	"1"	""	"00006"	"{PMID:Agrawal 2014:25087613}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	"F"	""	""	""	"0"	""	""	""	""
"00027186"	""	""	""	"1"	""	"00006"	"{PMID:Agrawal 2014:25087613}"	"2-generation family, 3 affecteds (F fetus, 2M), unaffected heterozygous carrier parents"	"-"	"no"	"Turkey"	""	"0"	""	""	""	""
"00208847"	""	""	""	"1"	""	"01164"	""	""	"?"	""	"Germany"	""	"0"	""	""	""	""
"00442735"	""	""	""	"1"	""	"00006"	"{PMID:Westra 2019:31127727}"	""	"M"	""	""	""	"0"	""	""	""	"Pat107"
"00442762"	""	""	""	"1"	""	"00006"	"{PMID:Westra 2019:31127727}"	""	"F"	""	""	""	"0"	""	""	""	"Pat134"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}"	"{{diseaseid}}"
"00027184"	"04168"
"00027185"	"04168"
"00027186"	"04168"
"00442735"	"05618"
"00442762"	"05618"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 04168, 04274, 05618
## Count = 5
"{{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}}"
"0000023255"	"04168"	"00027184"	"00006"	"Isolated (sporadic)"	""	"see paper; early death (2d, 2d, 3w)"	""	""	""	""	""	""	""	""	""
"0000023256"	"04168"	"00027185"	"00006"	"Isolated (sporadic)"	"06y"	"severe hypotonia since birth; needed tracheostomy; 24 hr mechanical ventilation; gastrostomy; dilated cardiomyopathy; congestive cardiac failure in neonatal age was treated with digoxin and captopril; hypotrophic myofibers, marked increase in central nuclei"	""	""	""	""	""	""	""	""	""
"0000023257"	"04168"	"00027186"	"00006"	"Familial, autosomal recessive"	"01y06m"	"hypotonia since birth, dilated cardiomyopathy and nephrolithiasis, orogastric feeds, no assisted ventilation; myopathic changes; variation in fiber size, more prominent in some fascicles, increased central nuclei in hypotrophic fibers, predominant type 1 fibers"	""	""	""	""	""	""	""	""	""
"0000332082"	"05618"	"00442735"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"Brody syndrome"
"0000332109"	"05618"	"00442762"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	"myopathy"


## Screenings ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000027188"	"00027184"	"1"	"00006"	"00006"	"2014-12-24 13:18:13"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000027189"	"00027185"	"1"	"00006"	"00006"	"2014-12-24 13:23:57"	""	""	"SEQ"	"DNA"	""	""
"0000027190"	"00027186"	"1"	"00006"	"00006"	"2014-12-24 13:32:11"	""	""	"SEQ"	"DNA"	""	""
"0000209892"	"00208847"	"1"	"01164"	"01164"	"2018-12-18 12:12:02"	""	""	"SEQ-NG"	"DNA"	""	""
"0000444219"	"00442735"	"1"	"00006"	"00006"	"2023-11-23 18:48:51"	""	""	"SEQ-NG"	"DNA"	""	"WES"
"0000444246"	"00442762"	"1"	"00006"	"00006"	"2023-11-23 18:48:51"	""	""	"SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 3
"{{screeningid}}"	"{{geneid}}"
"0000027188"	"SPEG"
"0000027189"	"SPEG"
"0000027190"	"SPEG"


## 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 = 96
"{{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}}"
"0000050329"	"3"	"90"	"2"	"220348882"	"220348882"	"subst"	"0"	"00006"	"SPEG_000001"	"g.220348882C>T"	""	"{PMID:Agrawal 2014:25087613}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.219484160C>T"	""	"pathogenic"	""
"0000050330"	"21"	"90"	"2"	"220338454"	"220338454"	"subst"	"0"	"00006"	"SPEG_000002"	"g.220338454C>T"	""	"{PMID:Agrawal 2014:25087613}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.219473732C>T"	""	"pathogenic"	""
"0000050331"	"11"	"90"	"2"	"220334095"	"220334130"	"del"	"0"	"00006"	"SPEG_000003"	"g.220334095_220334130del"	""	"{PMID:Agrawal 2014:25087613}"	""	"3709_3715+29del36"	""	"Germline"	"yes"	""	"0"	""	""	"g.219469373_219469408del"	""	"pathogenic"	""
"0000050332"	"21"	"90"	"2"	"220331929"	"220331930"	"delins"	"0"	"00006"	"SPEG_000004"	"g.220331929_220331930delinsA"	""	"{PMID:Agrawal 2014:25087613}"	""	"2915_2916delCCinsA"	""	"Germline"	"yes"	""	"0"	""	""	"g.219467207_219467208delinsA"	""	"pathogenic"	""
"0000050333"	"11"	"90"	"2"	"220353896"	"220353896"	"subst"	"0"	"00006"	"SPEG_000005"	"g.220353896G>T"	""	"{PMID:Agrawal 2014:25087613}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.219489174G>T"	""	"pathogenic"	""
"0000251931"	"0"	"30"	"2"	"220361785"	"220361785"	"subst"	"0"	"02326"	"GMPPA_000001"	"g.220361785A>G"	""	""	""	"SPEGNB(NM_001286811.1):c.383A>G (p.N128S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.219497063A>G"	""	"likely benign"	""
"0000298454"	"0"	"90"	"2"	"220355478"	"220355480"	"del"	"0"	"02325"	"SPEG_000012"	"g.220355478_220355480del"	""	""	""	"SPEG(NM_005876.5):c.9185_9187delTGG (p.V3062del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.219490756_219490758del"	""	"pathogenic"	""
"0000308771"	"0"	"50"	"2"	"220313933"	"220313933"	"subst"	"0.00137692"	"01943"	"SPEG_000007"	"g.220313933C>G"	""	""	""	"SPEG(NM_005876.4):c.2053C>G (p.R685G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.219449211C>G"	""	"VUS"	""
"0000308772"	"0"	"30"	"2"	"220333957"	"220333957"	"subst"	"4.07438E-6"	"01943"	"SPEG_000008"	"g.220333957C>T"	""	""	""	"SPEG(NM_005876.4):c.3571C>T (p.L1191=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.219469235C>T"	""	"likely benign"	""
"0000308773"	"0"	"30"	"2"	"220337670"	"220337670"	"subst"	"0.000216381"	"01943"	"SPEG_000009"	"g.220337670G>A"	""	""	""	"SPEG(NM_005876.4):c.3999G>A (p.T1333=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.219472948G>A"	""	"likely benign"	""
"0000308774"	"0"	"10"	"2"	"220348261"	"220348261"	"subst"	"0.00171537"	"01943"	"SPEG_000011"	"g.220348261C>G"	""	""	""	"SPEG(NM_005876.4):c.6076C>G (p.R2026G), SPEG(NM_005876.5):c.6076C>G (p.R2026G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.219483539C>G"	""	"benign"	""
"0000308775"	"0"	"50"	"2"	"220309817"	"220309817"	"subst"	"9.29947E-6"	"01943"	"SPEG_000006"	"g.220309817C>T"	""	""	""	"SPEG(NM_005876.4):c.749C>T (p.S250F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.219445095C>T"	""	"VUS"	""
"0000342564"	"0"	"90"	"2"	"220354612"	"220354612"	"subst"	"4.18316E-6"	"02327"	"SPEG_000017"	"g.220354612C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.219489890C>T"	""	"pathogenic"	""
"0000343176"	"0"	"50"	"2"	"220299881"	"220299881"	"subst"	"0.000553892"	"02327"	"SPEG_000013"	"g.220299881G>A"	""	""	""	"SPEG(NM_005876.5):c.182G>A (p.R61Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.219435159G>A"	""	"VUS"	""
"0000345763"	"0"	"50"	"2"	"220342503"	"220342503"	"subst"	"0"	"02327"	"SPEG_000016"	"g.220342503G>A"	""	""	""	"SPEG(NM_005876.5):c.4822G>A (p.(Gly1608Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.219477781G>A"	""	"VUS"	""
"0000350254"	"0"	"50"	"2"	"220333981"	"220333981"	"subst"	"0"	"02327"	"SPEG_000014"	"g.220333981G>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.219469259G>T"	""	"VUS"	""
"0000351046"	"0"	"50"	"2"	"220338628"	"220338628"	"subst"	"0"	"02327"	"SPEG_000015"	"g.220338628G>C"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.219473906G>C"	""	"VUS"	""
"0000440138"	"0"	"50"	"2"	"220334086"	"220334086"	"subst"	"0.000735173"	"01164"	"SPEG_000018"	"g.220334086C>T"	""	""	""	""	"not regarded causative for prenatal phenotype, no second variant detected in SPEG"	"Germline"	""	"rs55916864"	"0"	""	""	"g.219469364C>T"	""	"VUS"	"ACMG"
"0000514795"	"0"	"30"	"2"	"220313633"	"220313633"	"subst"	"0.00101283"	"02326"	"SPEG_000021"	"g.220313633G>A"	""	""	""	"SPEG(NM_005876.5):c.1753G>A (p.G585S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.219448911G>A"	""	"likely benign"	""
"0000514796"	"0"	"30"	"2"	"220332162"	"220332162"	"subst"	"0"	"01804"	"SPEG_000022"	"g.220332162T>C"	""	""	""	"SPEG(NM_001173476.1):c.*1376T>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.219467440T>C"	""	"likely benign"	""
"0000514798"	"0"	"30"	"2"	"220338578"	"220338578"	"subst"	"0.000285188"	"01804"	"SPEG_000024"	"g.220338578G>A"	""	""	""	"SPEG(NM_005876.4):c.4400G>A (p.(Arg1467Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.219473856G>A"	""	"likely benign"	""
"0000514800"	"0"	"30"	"2"	"220344809"	"220344809"	"subst"	"0.00055706"	"01943"	"SPEG_000025"	"g.220344809T>C"	""	""	""	"SPEG(NM_005876.4):c.5289T>C (p.F1763=), SPEG(NM_005876.5):c.5289T>C (p.F1763=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.219480087T>C"	""	"likely benign"	""
"0000514804"	"0"	"30"	"2"	"220349387"	"220349387"	"subst"	"0"	"01804"	"SPEG_000028"	"g.220349387G>A"	""	""	""	"SPEG(NM_005876.4):c.7202G>A (p.(Gly2401Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.219484665G>A"	""	"likely benign"	""
"0000514805"	"0"	"50"	"2"	"220353551"	"220353551"	"subst"	"0"	"01804"	"SPEG_000029"	"g.220353551C>A"	""	""	""	"SPEG(NM_005876.4):c.8078C>A (p.(Thr2693Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.219488829C>A"	""	"VUS"	""
"0000514806"	"0"	"50"	"2"	"220353793"	"220353793"	"subst"	"0"	"02327"	"SPEG_000030"	"g.220353793C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.219489071C>T"	""	"VUS"	""
"0000514809"	"0"	"30"	"2"	"220355654"	"220355654"	"subst"	"2.04915E-5"	"01804"	"SPEG_000033"	"g.220355654C>T"	""	""	""	"SPEG(NM_005876.4):c.9361C>T (p.(Arg3121Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.219490932C>T"	""	"likely benign"	""
"0000607535"	"0"	"30"	"2"	"220348076"	"220348076"	"subst"	"5.71218E-5"	"01943"	"SPEG_000037"	"g.220348076A>G"	""	""	""	"SPEG(NM_005876.4):c.5891A>G (p.E1964G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.219483354A>G"	""	"likely benign"	""
"0000607536"	"0"	"50"	"2"	"220353614"	"220353614"	"subst"	"8.78726E-5"	"02329"	"SPEG_000038"	"g.220353614G>A"	""	""	""	"SPEG(NM_005876.5):c.8141G>A (p.R2714Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.219488892G>A"	""	"VUS"	""
"0000676527"	"0"	"30"	"2"	"220309685"	"220309685"	"subst"	"0.00955707"	"01804"	"SPEG_000040"	"g.220309685G>A"	""	""	""	"SPEG(NM_005876.4):c.617G>A (p.(Arg206His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000676528"	"0"	"30"	"2"	"220309892"	"220309892"	"subst"	"0.00310692"	"02326"	"SPEG_000041"	"g.220309892C>T"	""	""	""	"SPEG(NM_005876.5):c.815+9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000676529"	"0"	"30"	"2"	"220348261"	"220348261"	"subst"	"0.00171537"	"02326"	"SPEG_000011"	"g.220348261C>G"	""	""	""	"SPEG(NM_005876.4):c.6076C>G (p.R2026G), SPEG(NM_005876.5):c.6076C>G (p.R2026G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000676530"	"0"	"30"	"2"	"220348348"	"220348348"	"subst"	"0"	"01804"	"SPEG_000042"	"g.220348348C>T"	""	""	""	"SPEG(NM_005876.4):c.6163C>T (p.(Arg2055Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000688661"	"0"	"30"	"2"	"220309837"	"220309837"	"subst"	"5.90464E-5"	"01943"	"SPEG_000043"	"g.220309837G>A"	""	""	""	"SPEG(NM_005876.4):c.769G>A (p.G257S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000688662"	"0"	"50"	"2"	"220349783"	"220349783"	"subst"	"0.000273593"	"01943"	"SPEG_000044"	"g.220349783C>T"	""	""	""	"SPEG(NM_005876.4):c.7598C>T (p.S2533L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000718521"	"0"	"30"	"2"	"220299881"	"220299881"	"subst"	"0.000553892"	"02326"	"SPEG_000013"	"g.220299881G>A"	""	""	""	"SPEG(NM_005876.5):c.182G>A (p.R61Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000718522"	"0"	"30"	"2"	"220337690"	"220337690"	"subst"	"0.00815616"	"01804"	"SPEG_000045"	"g.220337690G>A"	""	""	""	"SPEG(NM_005876.4):c.4019G>A (p.(Arg1340Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000718523"	"0"	"50"	"2"	"220337719"	"220337719"	"subst"	"3.66005E-5"	"02329"	"SPEG_000035"	"g.220337719C>T"	""	""	""	"SPEG(NM_005876.5):c.4048C>T (p.R1350C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000718524"	"0"	"50"	"2"	"220347909"	"220347909"	"subst"	"0.000253162"	"02329"	"SPEG_000036"	"g.220347909G>T"	""	""	""	"SPEG(NM_005876.5):c.5724G>T (p.M1908I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000800411"	"0"	"30"	"2"	"220312926"	"220312926"	"subst"	"8.36729E-5"	"01943"	"SPEG_000046"	"g.220312926C>T"	""	""	""	"SPEG(NM_005876.4):c.1046C>T (p.T349I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000800412"	"0"	"50"	"2"	"220333369"	"220333369"	"subst"	"0"	"01943"	"SPEG_000047"	"g.220333369A>G"	""	""	""	"SPEG(NM_005876.4):c.3212A>G (p.E1071G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000849749"	"0"	"30"	"2"	"220313721"	"220313721"	"subst"	"0.000403136"	"02326"	"SPEG_000049"	"g.220313721C>A"	""	""	""	"SPEG(NM_005876.5):c.1841C>A (p.P614H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000858370"	"0"	"10"	"2"	"220309688"	"220309688"	"subst"	"0.00221201"	"02326"	"SPEG_000048"	"g.220309688G>A"	""	""	""	"SPEG(NM_005876.5):c.620G>A (p.R207H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000911596"	"0"	"30"	"2"	"220333340"	"220333340"	"subst"	"4.06663E-5"	"02326"	"SPEG_000023"	"g.220333340G>T"	""	""	""	"SPEG(NM_005876.5):c.3183G>T (p.S1061=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000911597"	"0"	"30"	"2"	"220342126"	"220342126"	"subst"	"0.00136616"	"02326"	"SPEG_000050"	"g.220342126C>T"	""	""	""	"SPEG(NM_005876.5):c.4688C>T (p.A1563V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000911598"	"0"	"30"	"2"	"220344809"	"220344809"	"subst"	"0.00055706"	"02326"	"SPEG_000025"	"g.220344809T>C"	""	""	""	"SPEG(NM_005876.4):c.5289T>C (p.F1763=), SPEG(NM_005876.5):c.5289T>C (p.F1763=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000911599"	"0"	"30"	"2"	"220353584"	"220353584"	"subst"	"9.50922E-5"	"01804"	"SPEG_000051"	"g.220353584G>A"	""	""	""	"SPEG(NM_005876.4):c.8111G>A (p.(Arg2704Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000928536"	"0"	"30"	"2"	"220299852"	"220299852"	"subst"	"0.00412016"	"02326"	"SPEG_000052"	"g.220299852C>T"	""	""	""	"SPEG(NM_005876.5):c.153C>T (p.N51=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000946076"	"0"	"50"	"2"	"220355616"	"220355616"	"subst"	"0"	"00006"	"SPEG_000053"	"g.220355616A>G"	""	"{PMID:Westra 2019:31127727}"	""	""	"no variant 2nd chromosome; no segregation analysis"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.219490894A>G"	""	"VUS"	""
"0000946102"	"0"	"50"	"2"	"220299881"	"220299881"	"subst"	"0.000553892"	"00006"	"SPEG_000013"	"g.220299881G>A"	""	"{PMID:Westra 2019:31127727}"	""	""	"no segregation analysis"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.219435159G>A"	""	"VUS"	""
"0000946185"	"0"	"50"	"2"	"220333981"	"220333981"	"subst"	"0"	"00006"	"SPEG_000014"	"g.220333981G>T"	""	"{PMID:Westra 2019:31127727}"	""	""	"no segregation analysis"	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.219469259G>T"	""	"VUS"	""
"0000947764"	"0"	"30"	"2"	"220342728"	"220342728"	"subst"	"0.00161754"	"02326"	"SPEG_000054"	"g.220342728G>T"	""	""	""	"SPEG(NM_005876.5):c.4928G>T (p.R1643L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000947765"	"0"	"10"	"2"	"220348877"	"220348877"	"subst"	"0.0035177"	"02326"	"SPEG_000055"	"g.220348877C>A"	""	""	""	"SPEG(NM_005876.5):c.6692C>A (p.P2231H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000947766"	"0"	"30"	"2"	"220354435"	"220354435"	"subst"	"0.00221773"	"02326"	"SPEG_000056"	"g.220354435C>T"	""	""	""	"SPEG(NM_005876.5):c.8695C>T (p.P2899S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000975001"	"0"	"50"	"2"	"220326655"	"220326655"	"subst"	"0"	"01804"	"SPEG_000058"	"g.220326655T>A"	""	""	""	"SPEG(NM_005876.5):c.2492T>A (p.(Leu831Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000975002"	"0"	"30"	"2"	"220333779"	"220333779"	"subst"	"0.000499975"	"01804"	"SPEG_000059"	"g.220333779G>A"	""	""	""	"SPEG(NM_005876.5):c.3491+9G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000975003"	"0"	"50"	"2"	"220337640"	"220337640"	"subst"	"0.00100949"	"01804"	"SPEG_000060"	"g.220337640G>T"	""	""	""	"SPEG(NM_005876.5):c.3969G>T (p.(Gln1323His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000975004"	"0"	"30"	"2"	"220338219"	"220338219"	"subst"	"4.06815E-6"	"01804"	"SPEG_000061"	"g.220338219C>T"	""	""	""	"SPEG(NM_005876.5):c.4148-7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000975005"	"0"	"50"	"2"	"220342138"	"220342138"	"subst"	"0"	"01804"	"SPEG_000062"	"g.220342138C>T"	""	""	""	"SPEG(NM_005876.5):c.4700C>T (p.(Ser1567Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000975006"	"0"	"70"	"2"	"220348008"	"220348008"	"dup"	"0"	"01804"	"SPEG_000063"	"g.220348008dup"	""	""	""	"SPEG(NM_005876.5):c.5823dup (p.(Glu1942ArgfsTer15))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000975007"	"0"	"50"	"2"	"220349156"	"220349156"	"subst"	"0.000608176"	"01804"	"SPEG_000064"	"g.220349156T>A"	""	""	""	"SPEG(NM_005876.4):c.6971T>A (p.(Ile2324Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000975008"	"0"	"30"	"2"	"220349385"	"220349385"	"subst"	"0.00682218"	"01804"	"SPEG_000065"	"g.220349385C>A"	""	""	""	"SPEG(NM_005876.5):c.7200C>A (p.(Val2400=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000975009"	"0"	"50"	"2"	"220355342"	"220355342"	"subst"	"1.22004E-5"	"01804"	"SPEG_000066"	"g.220355342C>T"	""	""	""	"SPEG(NM_005876.5):c.9133C>T (p.(Arg3045Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000975010"	"0"	"30"	"2"	"220362588"	"220362588"	"subst"	"0.00274908"	"01804"	"GMPPA_000010"	"g.220362588G>A"	""	""	""	"SPEGNB(NM_001286811.1):c.578+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000975011"	"0"	"30"	"2"	"220362593"	"220362593"	"subst"	"0.00275123"	"01804"	"GMPPA_000011"	"g.220362593G>C"	""	""	""	"SPEGNB(NM_001286811.1):c.578+10G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000975012"	"0"	"50"	"2"	"220362891"	"220362891"	"subst"	"4.97173E-5"	"01804"	"GMPPA_000012"	"g.220362891G>C"	""	""	""	"SPEGNB(NM_001286811.1):c.697G>C (p.(Ala233Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000992542"	"0"	"30"	"2"	"220299751"	"220299751"	"subst"	"9.78921E-5"	"01804"	"SPEG_000067"	"g.220299751C>T"	""	""	""	"SPEG(NM_005876.4):c.52C>T (p.(Pro18Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000992543"	"0"	"30"	"2"	"220316376"	"220316376"	"subst"	"0"	"01804"	"SPEG_000068"	"g.220316376C>T"	""	""	""	"SPEG(NM_005876.4):c.2287C>T (p.(Arg763Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000992544"	"0"	"50"	"2"	"220329166"	"220329166"	"subst"	"2.06717E-5"	"01804"	"SPEG_000069"	"g.220329166G>A"	""	""	""	"SPEG(NM_005876.4):c.2717G>A (p.(Arg906His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000992545"	"0"	"30"	"2"	"220337606"	"220337606"	"subst"	"5.00883E-5"	"01804"	"SPEG_000070"	"g.220337606C>T"	""	""	""	"SPEG(NM_005876.4):c.3941-6C>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000992546"	"0"	"30"	"2"	"220342407"	"220342407"	"subst"	"0.00292248"	"01804"	"SPEG_000071"	"g.220342407C>T"	""	""	""	"SPEG(NM_005876.4):c.4730-4C>T (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000992547"	"0"	"30"	"2"	"220352984"	"220352984"	"subst"	"0.00309414"	"01804"	"SPEG_000072"	"g.220352984C>T"	""	""	""	"SPEG(NM_005876.4):c.7810C>T (p.(Leu2604Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000992548"	"0"	"30"	"2"	"220354313"	"220354313"	"subst"	"1.62815E-5"	"01804"	"SPEG_000073"	"g.220354313C>T"	""	""	""	"SPEG(NM_005876.4):c.8573C>T (p.(Ala2858Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001012925"	"0"	"90"	"2"	"220356957"	"220356957"	"subst"	"8.19612E-6"	"03779"	"SPEG_000075"	"g.220356957C>T"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs746906014"	"0"	""	""	""	""	"pathogenic"	""
"0001012926"	"0"	"90"	"2"	"220333298"	"220333298"	"subst"	"0"	"03779"	"SPEG_000074"	"g.220333298A>C"	""	""	""	""	""	"CLASSIFICATION record"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0001033007"	"0"	"50"	"2"	"220299901"	"220299901"	"subst"	"0"	"01804"	"SPEG_000076"	"g.220299901G>A"	""	""	""	"SPEG(NM_005876.5):c.202G>A (p.(Gly68Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001033008"	"0"	"30"	"2"	"220309892"	"220309892"	"subst"	"0.00310692"	"01804"	"SPEG_000041"	"g.220309892C>T"	""	""	""	"SPEG(NM_005876.5):c.815+9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001033009"	"0"	"30"	"2"	"220313314"	"220313314"	"subst"	"0"	"01804"	"SPEG_000077"	"g.220313314C>T"	""	""	""	"SPEG(NM_005876.5):c.1434C>T (p.(Asp478=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001033010"	"0"	"50"	"2"	"220316365"	"220316365"	"subst"	"0"	"01804"	"SPEG_000078"	"g.220316365G>A"	""	""	""	"SPEG(NM_005876.5):c.2276G>A (p.(Gly759Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001033011"	"0"	"10"	"2"	"220333321"	"220333321"	"subst"	"0.00889284"	"01804"	"SPEG_000079"	"g.220333321G>A"	""	""	""	"SPEG(NM_005876.5):c.3164G>A (p.(Arg1055Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0001033012"	"0"	"30"	"2"	"220337817"	"220337817"	"subst"	"0.000185255"	"01804"	"SPEG_000080"	"g.220337817C>T"	""	""	""	"SPEG(NM_005876.5):c.4146C>T (p.(His1382=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001033013"	"0"	"50"	"2"	"220338476"	"220338476"	"subst"	"0.000264425"	"01804"	"SPEG_000081"	"g.220338476G>A"	""	""	""	"SPEG(NM_005876.5):c.4298G>A (p.(Arg1433Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001033014"	"0"	"50"	"2"	"220346141"	"220346141"	"subst"	"2.84324E-5"	"01804"	"SPEG_000082"	"g.220346141C>T"	""	""	""	"SPEG(NM_005876.5):c.5485C>T (p.(Arg1829Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001033015"	"0"	"70"	"2"	"220350143"	"220350143"	"del"	"0"	"01804"	"SPEG_000083"	"g.220350143del"	""	""	""	"SPEG(NM_005876.5):c.7685del (p.(Asn2562Thrfs*57))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001033016"	"0"	"50"	"2"	"220353572"	"220353572"	"subst"	"0"	"01804"	"SPEG_000084"	"g.220353572C>T"	""	""	""	"SPEG(NM_005876.5):c.8099C>T (p.(Pro2700Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001033017"	"0"	"50"	"2"	"220354243"	"220354243"	"subst"	"4.07329E-5"	"01804"	"SPEG_000085"	"g.220354243C>G"	""	""	""	"SPEG(NM_005876.5):c.8503C>G (p.(Leu2835Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001033018"	"0"	"30"	"2"	"220354248"	"220354248"	"subst"	"0.000443782"	"01804"	"SPEG_000086"	"g.220354248G>A"	""	""	""	"SPEG(NM_005876.5):c.8508G>A (p.(Lys2836=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001033019"	"0"	"70"	"2"	"220354279"	"220354279"	"subst"	"0"	"01804"	"SPEG_000087"	"g.220354279C>T"	""	""	""	"SPEG(NM_005876.5):c.8539C>T (p.(Arg2847*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0001033020"	"0"	"50"	"2"	"220356942"	"220356942"	"subst"	"0"	"01804"	"SPEG_000088"	"g.220356942G>A"	""	""	""	"SPEG(NM_005876.5):c.9571G>A (p.(Ala3191Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001051082"	"0"	"50"	"2"	"220300021"	"220300021"	"subst"	"0"	"01804"	"SPEG_000089"	"g.220300021T>C"	""	""	""	"SPEG(NM_005876.5):c.322T>C (p.(Cys108Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001051083"	"0"	"50"	"2"	"220342503"	"220342503"	"subst"	"0"	"01804"	"SPEG_000016"	"g.220342503G>A"	""	""	""	"SPEG(NM_005876.5):c.4822G>A (p.(Gly1608Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001051084"	"0"	"30"	"2"	"220347820"	"220347820"	"subst"	"0.000166064"	"01804"	"SPEG_000090"	"g.220347820C>T"	""	""	""	"SPEG(NM_005876.5):c.5635C>T (p.(Arg1879Cys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001051085"	"0"	"50"	"2"	"220355684"	"220355684"	"subst"	"0"	"01804"	"SPEG_000091"	"g.220355684G>A"	""	""	""	"SPEG(NM_005876.5):c.9385+6G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001051086"	"0"	"50"	"2"	"220356573"	"220356573"	"subst"	"0"	"01804"	"SPEG_000092"	"g.220356573G>C"	""	""	""	"SPEG(NM_005876.5):c.9443G>C (p.(Gly3148Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001063793"	"0"	"50"	"2"	"220333776"	"220333778"	"del"	"0"	"01804"	"SPEG_000093"	"g.220333776_220333778del"	""	""	""	"SPEG(NM_005876.5):c.3491+6_3491+8del"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001063794"	"0"	"50"	"2"	"220333876"	"220333876"	"dup"	"0"	"01804"	"SPEG_000094"	"g.220333876dup"	""	""	""	"SPEG(NM_005876.5):c.3492-2dup"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001063795"	"0"	"50"	"2"	"220348262"	"220348262"	"subst"	"0"	"02325"	"SPEG_000095"	"g.220348262G>A"	""	""	""	""	"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 SPEG
## Count = 96
"{{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}}"
"0000050329"	"00020164"	"90"	"6697"	"0"	"6697"	"0"	"c.6697C>T"	"r.(?)"	"p.(Gln2233*)"	"30"
"0000050330"	"00020164"	"90"	"4276"	"0"	"4276"	"0"	"c.4276C>T"	"r.(?)"	"p.(Arg1426*)"	"18"
"0000050331"	"00020164"	"90"	"3709"	"0"	"3715"	"29"	"c.3709_3715+29del"	"r.spl"	"p.?"	"13_13i"
"0000050332"	"00020164"	"90"	"2915"	"0"	"2916"	"0"	"c.2915_2916delinsA"	"r.(?)"	"p.(Ala972Aspfs*79)"	"10"
"0000050333"	"00020164"	"90"	"8270"	"0"	"8270"	"0"	"c.8270G>T"	"r.(?)"	"p.(Gly2757Val)"	"35"
"0000251931"	"00020164"	"30"	"14081"	"0"	"14081"	"0"	"c.*4277A>G"	"r.(=)"	"p.(=)"	""
"0000298454"	"00020164"	"90"	"9185"	"0"	"9187"	"0"	"c.9185_9187del"	"r.(?)"	"p.(Val3062del)"	""
"0000308771"	"00020164"	"50"	"2053"	"0"	"2053"	"0"	"c.2053C>G"	"r.(?)"	"p.(Arg685Gly)"	""
"0000308772"	"00020164"	"30"	"3571"	"0"	"3571"	"0"	"c.3571C>T"	"r.(?)"	"p.(Leu1191=)"	""
"0000308773"	"00020164"	"30"	"3999"	"0"	"3999"	"0"	"c.3999G>A"	"r.(?)"	"p.(Thr1333=)"	""
"0000308774"	"00020164"	"10"	"6076"	"0"	"6076"	"0"	"c.6076C>G"	"r.(?)"	"p.(Arg2026Gly)"	""
"0000308775"	"00020164"	"50"	"749"	"0"	"749"	"0"	"c.749C>T"	"r.(?)"	"p.(Ser250Phe)"	""
"0000342564"	"00020164"	"90"	"8872"	"0"	"8872"	"0"	"c.8872C>T"	"r.(?)"	"p.(Arg2958Ter)"	""
"0000343176"	"00020164"	"50"	"182"	"0"	"182"	"0"	"c.182G>A"	"r.(?)"	"p.(Arg61Gln)"	""
"0000345763"	"00020164"	"50"	"4822"	"0"	"4822"	"0"	"c.4822G>A"	"r.(?)"	"p.(Gly1608Ser)"	""
"0000350254"	"00020164"	"50"	"3595"	"0"	"3595"	"0"	"c.3595G>T"	"r.(?)"	"p.(Val1199Leu)"	""
"0000351046"	"00020164"	"50"	"4447"	"3"	"4447"	"3"	"c.4447+3G>C"	"r.spl?"	"p.?"	""
"0000440138"	"00020164"	"50"	"3700"	"0"	"3700"	"0"	"c.3700C>T"	"r.(?)"	"p.Arg1234Trp"	""
"0000514795"	"00020164"	"30"	"1753"	"0"	"1753"	"0"	"c.1753G>A"	"r.(?)"	"p.(Gly585Ser)"	""
"0000514796"	"00020164"	"30"	"3142"	"6"	"3142"	"6"	"c.3142+6T>C"	"r.(=)"	"p.(=)"	""
"0000514798"	"00020164"	"30"	"4400"	"0"	"4400"	"0"	"c.4400G>A"	"r.(?)"	"p.(Arg1467Gln)"	""
"0000514800"	"00020164"	"30"	"5289"	"0"	"5289"	"0"	"c.5289T>C"	"r.(?)"	"p.(Phe1763=)"	""
"0000514804"	"00020164"	"30"	"7202"	"0"	"7202"	"0"	"c.7202G>A"	"r.(?)"	"p.(Gly2401Glu)"	""
"0000514805"	"00020164"	"50"	"8078"	"0"	"8078"	"0"	"c.8078C>A"	"r.(?)"	"p.(Thr2693Lys)"	""
"0000514806"	"00020164"	"50"	"8167"	"0"	"8167"	"0"	"c.8167C>T"	"r.(?)"	"p.(Pro2723Ser)"	""
"0000514809"	"00020164"	"30"	"9361"	"0"	"9361"	"0"	"c.9361C>T"	"r.(?)"	"p.(Arg3121Cys)"	""
"0000607535"	"00020164"	"30"	"5891"	"0"	"5891"	"0"	"c.5891A>G"	"r.(?)"	"p.(Glu1964Gly)"	""
"0000607536"	"00020164"	"50"	"8141"	"0"	"8141"	"0"	"c.8141G>A"	"r.(?)"	"p.(Arg2714Gln)"	""
"0000676527"	"00020164"	"30"	"617"	"0"	"617"	"0"	"c.617G>A"	"r.(?)"	"p.(Arg206His)"	""
"0000676528"	"00020164"	"30"	"815"	"9"	"815"	"9"	"c.815+9C>T"	"r.(=)"	"p.(=)"	""
"0000676529"	"00020164"	"30"	"6076"	"0"	"6076"	"0"	"c.6076C>G"	"r.(?)"	"p.(Arg2026Gly)"	""
"0000676530"	"00020164"	"30"	"6163"	"0"	"6163"	"0"	"c.6163C>T"	"r.(?)"	"p.(Arg2055Trp)"	""
"0000688661"	"00020164"	"30"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Gly257Ser)"	""
"0000688662"	"00020164"	"50"	"7598"	"0"	"7598"	"0"	"c.7598C>T"	"r.(?)"	"p.(Ser2533Leu)"	""
"0000718521"	"00020164"	"30"	"182"	"0"	"182"	"0"	"c.182G>A"	"r.(?)"	"p.(Arg61Gln)"	""
"0000718522"	"00020164"	"30"	"4019"	"0"	"4019"	"0"	"c.4019G>A"	"r.(?)"	"p.(Arg1340Gln)"	""
"0000718523"	"00020164"	"50"	"4048"	"0"	"4048"	"0"	"c.4048C>T"	"r.(?)"	"p.(Arg1350Cys)"	""
"0000718524"	"00020164"	"50"	"5724"	"0"	"5724"	"0"	"c.5724G>T"	"r.(?)"	"p.(Met1908Ile)"	""
"0000800411"	"00020164"	"30"	"1046"	"0"	"1046"	"0"	"c.1046C>T"	"r.(?)"	"p.(Thr349Ile)"	""
"0000800412"	"00020164"	"50"	"3212"	"0"	"3212"	"0"	"c.3212A>G"	"r.(?)"	"p.(Glu1071Gly)"	""
"0000849749"	"00020164"	"30"	"1841"	"0"	"1841"	"0"	"c.1841C>A"	"r.(?)"	"p.(Pro614His)"	""
"0000858370"	"00020164"	"10"	"620"	"0"	"620"	"0"	"c.620G>A"	"r.(?)"	"p.(Arg207His)"	""
"0000911596"	"00020164"	"30"	"3183"	"0"	"3183"	"0"	"c.3183G>T"	"r.(?)"	"p.(Ser1061=)"	""
"0000911597"	"00020164"	"30"	"4688"	"0"	"4688"	"0"	"c.4688C>T"	"r.(?)"	"p.(Ala1563Val)"	""
"0000911598"	"00020164"	"30"	"5289"	"0"	"5289"	"0"	"c.5289T>C"	"r.(?)"	"p.(Phe1763=)"	""
"0000911599"	"00020164"	"30"	"8111"	"0"	"8111"	"0"	"c.8111G>A"	"r.(?)"	"p.(Arg2704Gln)"	""
"0000928536"	"00020164"	"30"	"153"	"0"	"153"	"0"	"c.153C>T"	"r.(?)"	"p.(=)"	""
"0000946076"	"00020164"	"50"	"9323"	"0"	"9323"	"0"	"c.9323A>G"	"r.(?)"	"p.(Gln3108Arg)"	""
"0000946102"	"00020164"	"50"	"182"	"0"	"182"	"0"	"c.182G>A"	"r.(?)"	"p.(Arg61Gln)"	""
"0000946185"	"00020164"	"50"	"3595"	"0"	"3595"	"0"	"c.3595G>T"	"r.(?)"	"p.(Val1199Leu)"	""
"0000947764"	"00020164"	"30"	"4928"	"0"	"4928"	"0"	"c.4928G>T"	"r.(?)"	"p.(Arg1643Leu)"	""
"0000947765"	"00020164"	"10"	"6692"	"0"	"6692"	"0"	"c.6692C>A"	"r.(?)"	"p.(Pro2231His)"	""
"0000947766"	"00020164"	"30"	"8695"	"0"	"8695"	"0"	"c.8695C>T"	"r.(?)"	"p.(Pro2899Ser)"	""
"0000975001"	"00020164"	"50"	"2492"	"0"	"2492"	"0"	"c.2492T>A"	"r.(?)"	"p.(Leu831Gln)"	""
"0000975002"	"00020164"	"30"	"3491"	"9"	"3491"	"9"	"c.3491+9G>A"	"r.(=)"	"p.(=)"	""
"0000975003"	"00020164"	"50"	"3969"	"0"	"3969"	"0"	"c.3969G>T"	"r.(?)"	"p.(Gln1323His)"	""
"0000975004"	"00020164"	"30"	"4148"	"-7"	"4148"	"-7"	"c.4148-7C>T"	"r.(=)"	"p.(=)"	""
"0000975005"	"00020164"	"50"	"4700"	"0"	"4700"	"0"	"c.4700C>T"	"r.(?)"	"p.(Ser1567Phe)"	""
"0000975006"	"00020164"	"70"	"5823"	"0"	"5823"	"0"	"c.5823dup"	"r.(?)"	"p.(Glu1942Argfs*15)"	""
"0000975007"	"00020164"	"50"	"6971"	"0"	"6971"	"0"	"c.6971T>A"	"r.(?)"	"p.(Ile2324Asn)"	""
"0000975008"	"00020164"	"30"	"7200"	"0"	"7200"	"0"	"c.7200C>A"	"r.(?)"	"p.(=)"	""
"0000975009"	"00020164"	"50"	"9133"	"0"	"9133"	"0"	"c.9133C>T"	"r.(?)"	"p.(Arg3045Trp)"	""
"0000975010"	"00020164"	"30"	"14884"	"0"	"14884"	"0"	"c.*5080G>A"	"r.(=)"	"p.(=)"	""
"0000975011"	"00020164"	"30"	"14889"	"0"	"14889"	"0"	"c.*5085G>C"	"r.(=)"	"p.(=)"	""
"0000975012"	"00020164"	"50"	"15187"	"0"	"15187"	"0"	"c.*5383G>C"	"r.(=)"	"p.(=)"	""
"0000992542"	"00020164"	"30"	"52"	"0"	"52"	"0"	"c.52C>T"	"r.(?)"	"p.(Pro18Ser)"	""
"0000992543"	"00020164"	"30"	"2287"	"0"	"2287"	"0"	"c.2287C>T"	"r.(?)"	"p.(Arg763Cys)"	""
"0000992544"	"00020164"	"50"	"2717"	"0"	"2717"	"0"	"c.2717G>A"	"r.(?)"	"p.(Arg906His)"	""
"0000992545"	"00020164"	"30"	"3941"	"-6"	"3941"	"-6"	"c.3941-6C>T"	"r.(=)"	"p.(=)"	""
"0000992546"	"00020164"	"30"	"4730"	"-4"	"4730"	"-4"	"c.4730-4C>T"	"r.spl?"	"p.?"	""
"0000992547"	"00020164"	"30"	"7810"	"0"	"7810"	"0"	"c.7810C>T"	"r.(?)"	"p.(Leu2604Phe)"	""
"0000992548"	"00020164"	"30"	"8573"	"0"	"8573"	"0"	"c.8573C>T"	"r.(?)"	"p.(Ala2858Val)"	""
"0001012925"	"00020164"	"90"	"9586"	"0"	"9586"	"0"	"c.9586C>T"	"r.(?)"	"p.(Arg3196Ter)"	""
"0001012926"	"00020164"	"90"	"3143"	"-2"	"3143"	"-2"	"c.3143-2A>C"	"r.(?)"	"p.(?)"	""
"0001033007"	"00020164"	"50"	"202"	"0"	"202"	"0"	"c.202G>A"	"r.(?)"	"p.(Gly68Arg)"	""
"0001033008"	"00020164"	"30"	"815"	"9"	"815"	"9"	"c.815+9C>T"	"r.(=)"	"p.(=)"	""
"0001033009"	"00020164"	"30"	"1434"	"0"	"1434"	"0"	"c.1434C>T"	"r.(?)"	"p.(=)"	""
"0001033010"	"00020164"	"50"	"2276"	"0"	"2276"	"0"	"c.2276G>A"	"r.(?)"	"p.(Gly759Glu)"	""
"0001033011"	"00020164"	"10"	"3164"	"0"	"3164"	"0"	"c.3164G>A"	"r.(?)"	"p.(Arg1055Gln)"	""
"0001033012"	"00020164"	"30"	"4146"	"0"	"4146"	"0"	"c.4146C>T"	"r.(?)"	"p.(=)"	""
"0001033013"	"00020164"	"50"	"4298"	"0"	"4298"	"0"	"c.4298G>A"	"r.(?)"	"p.(Arg1433Gln)"	""
"0001033014"	"00020164"	"50"	"5485"	"0"	"5485"	"0"	"c.5485C>T"	"r.(?)"	"p.(Arg1829Trp)"	""
"0001033015"	"00020164"	"70"	"7685"	"0"	"7685"	"0"	"c.7685del"	"r.(?)"	"p.(Asn2562Thrfs*57)"	""
"0001033016"	"00020164"	"50"	"8099"	"0"	"8099"	"0"	"c.8099C>T"	"r.(?)"	"p.(Pro2700Leu)"	""
"0001033017"	"00020164"	"50"	"8503"	"0"	"8503"	"0"	"c.8503C>G"	"r.(?)"	"p.(Leu2835Val)"	""
"0001033018"	"00020164"	"30"	"8508"	"0"	"8508"	"0"	"c.8508G>A"	"r.(?)"	"p.(=)"	""
"0001033019"	"00020164"	"70"	"8539"	"0"	"8539"	"0"	"c.8539C>T"	"r.(?)"	"p.(Arg2847*)"	""
"0001033020"	"00020164"	"50"	"9571"	"0"	"9571"	"0"	"c.9571G>A"	"r.(?)"	"p.(Ala3191Thr)"	""
"0001051082"	"00020164"	"50"	"322"	"0"	"322"	"0"	"c.322T>C"	"r.(?)"	"p.(Cys108Arg)"	""
"0001051083"	"00020164"	"50"	"4822"	"0"	"4822"	"0"	"c.4822G>A"	"r.(?)"	"p.(Gly1608Ser)"	""
"0001051084"	"00020164"	"30"	"5635"	"0"	"5635"	"0"	"c.5635C>T"	"r.(?)"	"p.(Arg1879Cys)"	""
"0001051085"	"00020164"	"50"	"9385"	"6"	"9385"	"6"	"c.9385+6G>A"	"r.(=)"	"p.(=)"	""
"0001051086"	"00020164"	"50"	"9443"	"0"	"9443"	"0"	"c.9443G>C"	"r.(?)"	"p.(Gly3148Ala)"	""
"0001063793"	"00020164"	"50"	"3491"	"6"	"3491"	"8"	"c.3491+6_3491+8del"	"r.(=)"	"p.(=)"	""
"0001063794"	"00020164"	"50"	"3492"	"-2"	"3492"	"-2"	"c.3492-2dup"	"r.spl?"	"p.?"	""
"0001063795"	"00020164"	"50"	"6077"	"0"	"6077"	"0"	"c.6077G>A"	"r.(?)"	"p.(Arg2026Gln)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 9
"{{screeningid}}"	"{{variantid}}"
"0000027188"	"0000050329"
"0000027189"	"0000050330"
"0000027189"	"0000050331"
"0000027190"	"0000050332"
"0000027190"	"0000050333"
"0000209892"	"0000440138"
"0000444219"	"0000946076"
"0000444246"	"0000946102"
"0000444246"	"0000946185"