### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = NSUN2)
# 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}}"
"NSUN2"	"NOP2/Sun RNA methyltransferase family, member 2"	"5"	"p15.32"	"unknown"	"NG_028215.1"	"UD_132084462923"	""	"https://www.LOVD.nl/NSUN2"	""	"1"	"25994"	"54888"	"610916"	"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/NSUN2_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2012-06-01 00:00:00"	"00006"	"2017-07-04 21:10:48"	"00006"	"2025-11-13 13:04:16"


## 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}}"
"00014843"	"NSUN2"	"NOP2/Sun domain family, member 2, transcript variant 1"	"003"	"NM_017755.5"	""	"NP_060225.4"	""	""	""	"-381"	"2991"	"2304"	"6633473"	"6599352"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 4
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00139"	"ID"	"intellectual disability (ID)"	""	""	""	""	""	"00084"	"2013-06-04 18:18:07"	"00006"	"2015-02-09 10:02:49"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00794"	"MRT5"	"mental retardation, autosomal recessive, type 5 (MRT-5)"	"AR"	"611091"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"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 = 2
"{{geneid}}"	"{{diseaseid}}"
"NSUN2"	"00139"
"NSUN2"	"00794"


## Individuals ## Do not remove or alter this header ##
## Count = 5
"{{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}}"
"00269894"	""	""	""	"1"	""	"01807"	""	""	"?"	""	""	""	"0"	""	""	""	""
"00374426"	""	""	""	"1"	""	"00006"	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"India"	""	"0"	""	""	""	"R-0604"
"00403869"	""	""	""	"1"	""	"00006"	"{PMID:Froukh 2020:32056211}"	"analysis 103 families with neurodevelopmental disorders"	""	""	"Jordan"	""	"0"	""	""	""	"TF051"
"00469172"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""
"00469173"	""	""	""	"1"	""	"00006"	"{PMID:Retterer 2016:26633542}"	"analysis proband (1/3040); possible combination of variants not reported"	""	""	"United States"	""	"0"	""	""	""	""


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 5
"{{individualid}}"	"{{diseaseid}}"
"00269894"	"00198"
"00374426"	"00198"
"00403869"	"05611"
"00469172"	"00198"
"00469173"	"00198"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00139, 00198, 00794, 05611
## Count = 5
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Birth/Gestational_age_wk}}"	"{{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}}"
"0000207690"	"00198"	"00269894"	"01807"	"Unknown"	""	"Global developmental delay (HP:0001263); Microcephaly (HP:0000252); Strabismus (HP:0000486); Coarse facial features (HP:0000280)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000269636"	"00198"	"00374426"	"00006"	"Familial, autosomal recessive"	""	"ID and dysmorphism"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000296549"	"05611"	"00403869"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	""	"neurodevelopmental delay"	""
"0000354325"	"00198"	"00469172"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the nervous system"	""
"0000354326"	"00198"	"00469173"	"00006"	"Unknown"	""	""	""	""	""	""	""	""	""	""	""	""	"abnormality of the nervous system"	""


## Screenings ## Do not remove or alter this header ##
## Count = 5
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000271047"	"00269894"	"1"	"01807"	"01807"	"2019-12-10 12:31:58"	""	""	"SEQ"	"DNA"	""	""
"0000375620"	"00374426"	"1"	"00006"	"00006"	"2021-05-24 20:06:48"	""	""	"SEQ-NG"	"DNA"	""	"TruSight One panel"
"0000405107"	"00403869"	"1"	"00006"	"00006"	"2022-02-24 16:43:58"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000470840"	"00469172"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000470841"	"00469173"	"1"	"00006"	"00006"	"2025-11-13 13:02:43"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 1
"{{screeningid}}"	"{{geneid}}"
"0000375620"	"NSUN2"


## 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 = 36
"{{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}}"
"0000296633"	"0"	"10"	"5"	"6605532"	"6605532"	"subst"	"0.655366"	"02325"	"NSUN2_000006"	"g.6605532C>A"	""	""	""	"NSUN2(NM_017755.6):c.1602-11G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.6605419C>A"	""	"benign"	""
"0000296634"	"0"	"30"	"5"	"6600200"	"6600200"	"subst"	"0.0051204"	"02325"	"NSUN2_000004"	"g.6600200C>T"	""	""	""	"NSUN2(NM_017755.6):c.2143G>A (p.V715I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.6600087C>T"	""	"likely benign"	""
"0000296635"	"0"	"10"	"5"	"6600150"	"6600150"	"subst"	"0.179105"	"02325"	"NSUN2_000003"	"g.6600150G>A"	""	""	""	"NSUN2(NM_017755.6):c.2193C>T (p.D731=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.6600037G>A"	""	"benign"	""
"0000296636"	"0"	"30"	"5"	"6600043"	"6600043"	"subst"	"0.00355312"	"02325"	"NSUN2_000001"	"g.6600043C>T"	""	""	""	"NSUN2(NM_017755.6):c.2300G>A (p.R767Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.6599930C>T"	""	"likely benign"	""
"0000296637"	"0"	"10"	"5"	"6633042"	"6633042"	"subst"	"0.34107"	"02325"	"NSUN2_000010"	"g.6633042C>T"	""	""	""	"NSUN2(NM_017755.6):c.51G>A (p.E17=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.6632929C>T"	""	"benign"	""
"0000296638"	"0"	"10"	"5"	"6632875"	"6632875"	"subst"	"0.326145"	"02325"	"NSUN2_000009"	"g.6632875G>A"	""	""	""	"NSUN2(NM_017755.6):c.97-6C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.6632762G>A"	""	"benign"	""
"0000304647"	"0"	"30"	"5"	"6600133"	"6600133"	"subst"	"0.0001137"	"01943"	"NSUN2_000002"	"g.6600133C>G"	""	""	""	"NSUN2(NM_017755.5):c.2210G>C (p.R737T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.6600020C>G"	""	"likely benign"	""
"0000304648"	"0"	"30"	"5"	"6632744"	"6632744"	"subst"	"0.00194624"	"01943"	"NSUN2_000008"	"g.6632744G>A"	""	""	""	"NSUN2(NM_017755.5):c.222C>T (p.L74=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.6632631G>A"	""	"likely benign"	""
"0000304649"	"0"	"70"	"5"	"6632091"	"6632091"	"subst"	"0"	"01943"	"NSUN2_000007"	"g.6632091C>T"	""	""	""	"NSUN2(NM_017755.5):c.255-1G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.6631978C>T"	""	"likely pathogenic"	""
"0000346391"	"0"	"50"	"5"	"6623335"	"6623335"	"subst"	"0.000534612"	"02327"	"NSUN2_000012"	"g.6623335G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.6623222G>A"	""	"VUS"	""
"0000350175"	"0"	"70"	"5"	"6600246"	"6600250"	"del"	"0"	"02327"	"NSUN2_000011"	"g.6600246_6600250del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.6600133_6600137del"	""	"likely pathogenic"	""
"0000525906"	"0"	"50"	"5"	"6605506"	"6605506"	"subst"	"0"	"01943"	"NSUN2_000013"	"g.6605506C>A"	""	""	""	"NSUN2(NM_017755.5):c.1617G>T (p.L539F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.6605393C>A"	""	"VUS"	""
"0000525907"	"0"	"90"	"5"	"6607344"	"6607344"	"del"	"0"	"02327"	"NSUN2_000014"	"g.6607344del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.6607231del"	""	"pathogenic"	""
"0000525908"	"0"	"30"	"5"	"6607376"	"6607376"	"subst"	"0"	"01804"	"NSUN2_000015"	"g.6607376G>A"	""	""	""	"NSUN2(NM_001193455.1):c.1340C>T (p.(Thr447Ile))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.6607263G>A"	""	"likely benign"	""
"0000525910"	"0"	"50"	"5"	"6632843"	"6632843"	"subst"	"8.12896E-6"	"02327"	"NSUN2_000017"	"g.6632843G>C"	""	""	""	"NSUN2(NM_017755.6):c.123C>G (p.(Ile41Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.6632730G>C"	""	"VUS"	""
"0000525915"	"0"	"30"	"5"	"6656185"	"6656185"	"subst"	"0"	"01804"	"NSUN2_000019"	"g.6656185C>T"	""	""	""	"SRD5A1(NM_001047.2):c.461-6C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.6656072C>T"	""	"likely benign"	""
"0000609767"	"0"	"50"	"5"	"6611064"	"6611064"	"subst"	"0.000191097"	"01943"	"NSUN2_000022"	"g.6611064T>A"	""	""	""	"NSUN2(NM_017755.5):c.1226+4A>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.6610951T>A"	""	"VUS"	""
"0000609768"	"0"	"10"	"5"	"6623417"	"6623417"	"del"	"0"	"01943"	"NSUN2_000023"	"g.6623417del"	""	""	""	"NSUN2(NM_017755.5):c.466-8delT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.6623304del"	""	"benign"	""
"0000609769"	"0"	"50"	"5"	"6632817"	"6632817"	"subst"	"7.72609E-5"	"01943"	"NSUN2_000024"	"g.6632817T>G"	""	""	""	"NSUN2(NM_017755.5):c.149A>C (p.H50P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.6632704T>G"	""	"VUS"	""
"0000624895"	"3"	"90"	"5"	"6625713"	"6625714"	"del"	"0"	"01807"	"NSUN2_000025"	"g.6625713_6625714del"	""	""	""	""	""	"Unknown"	""	""	"0"	""	""	"g.6625600_6625601del"	""	"pathogenic"	""
"0000677532"	"0"	"30"	"5"	"6610051"	"6610052"	"del"	"0"	"02330"	"NSUN2_000026"	"g.6610051_6610052del"	""	""	""	"NSUN2(NM_017755.5):c.1227-6_1227-5delAT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000720473"	"0"	"70"	"5"	"6602572"	"6602572"	"dup"	"0"	"01943"	"NSUN2_000028"	"g.6602572dup"	""	""	""	"NSUN2(NM_017755.5):c.1997+2dupT"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000720474"	"0"	"70"	"5"	"6623357"	"6623447"	"del"	"0"	"02327"	"NSUN2_000029"	"g.6623357_6623447del"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000786971"	"3"	"70"	"5"	"6622192"	"6622192"	"del"	"0"	"00006"	"NSUN2_000030"	"g.6622192del"	""	"{PMID:Ganapathy 2019:31069529}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.6622079del"	""	"likely pathogenic"	""
"0000802155"	"0"	"50"	"5"	"6604370"	"6604370"	"subst"	"1.63357E-5"	"01943"	"NSUN2_000031"	"g.6604370G>T"	""	""	""	"NSUN2(NM_017755.5):c.1838C>A (p.P613Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000841168"	"3"	"90"	"5"	"6625713"	"6625714"	"del"	"0"	"00006"	"NSUN2_000025"	"g.6625713_6625714del"	""	"{PMID:Froukh 2020:32056211}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.6625600_6625601del"	""	"pathogenic (recessive)"	""
"0000850941"	"0"	"30"	"5"	"6632837"	"6632837"	"subst"	"4.06372E-6"	"01943"	"NSUN2_000033"	"g.6632837C>T"	""	""	""	"NSUN2(NM_017755.5):c.129G>A (p.K43=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000859982"	"0"	"50"	"5"	"6609944"	"6609944"	"subst"	"0"	"01943"	"NSUN2_000032"	"g.6609944G>A"	""	""	""	"NSUN2(NM_017755.5):c.1318C>T (p.P440S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000929096"	"0"	"50"	"5"	"6623386"	"6623386"	"subst"	"0"	"02327"	"NSUN2_000034"	"g.6623386G>A"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000963666"	"0"	"90"	"5"	"6620282"	"6620285"	"del"	"0"	"02329"	"NSUN2_000035"	"g.6620282_6620285del"	""	""	""	"NSUN2(NM_017755.6):c.753_756delAGAT (p.I251Mfs*26)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"pathogenic"	""
"0001035280"	"0"	"30"	"5"	"6607303"	"6607303"	"subst"	"0"	"01804"	"NSUN2_000036"	"g.6607303C>T"	""	""	""	"NSUN2(NM_017755.6):c.1508+10G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001035281"	"0"	"50"	"5"	"6620271"	"6620271"	"subst"	"4.95937E-5"	"01804"	"NSUN2_000037"	"g.6620271C>T"	""	""	""	"NSUN2(NM_017755.6):c.763G>A (p.(Gly255Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001035282"	"0"	"30"	"5"	"6632703"	"6632703"	"subst"	"8.16793E-6"	"01804"	"NSUN2_000038"	"g.6632703C>A"	""	""	""	"NSUN2(NM_017755.6):c.254+9G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001051909"	"0"	"50"	"5"	"6632843"	"6632843"	"subst"	"8.12896E-6"	"01804"	"NSUN2_000017"	"g.6632843G>C"	""	""	""	"NSUN2(NM_017755.6):c.123C>G (p.(Ile41Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001058962"	"0"	"90"	"5"	"6611837"	"6611837"	"subst"	"0"	"00006"	"chr5_007781"	"g.6611837C>T"	""	"{PMID:Retterer 2016:26633542}"	""	""	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.6611724C>T"	""	"pathogenic"	""
"0001058963"	"0"	"90"	"5"	"6611837"	"6611837"	"subst"	"0"	"00006"	"chr5_007781"	"g.6611837C>T"	""	"{PMID:Retterer 2016:26633542}"	""	""	"variants reported seperately, unknown if mono-allelic or bi-allelic"	"Unknown"	""	""	"0"	""	""	"g.6611724C>T"	""	"pathogenic"	""


## 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 NSUN2
## Count = 36
"{{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}}"
"0000296633"	"00014843"	"10"	"1602"	"-11"	"1602"	"-11"	"c.1602-11G>T"	"r.(=)"	"p.(=)"	""
"0000296634"	"00014843"	"30"	"2143"	"0"	"2143"	"0"	"c.2143G>A"	"r.(?)"	"p.(Val715Ile)"	""
"0000296635"	"00014843"	"10"	"2193"	"0"	"2193"	"0"	"c.2193C>T"	"r.(?)"	"p.(Asp731=)"	""
"0000296636"	"00014843"	"30"	"2300"	"0"	"2300"	"0"	"c.2300G>A"	"r.(?)"	"p.(Arg767Gln)"	""
"0000296637"	"00014843"	"10"	"51"	"0"	"51"	"0"	"c.51G>A"	"r.(?)"	"p.(Glu17=)"	""
"0000296638"	"00014843"	"10"	"97"	"-6"	"97"	"-6"	"c.97-6C>T"	"r.(=)"	"p.(=)"	""
"0000304647"	"00014843"	"30"	"2210"	"0"	"2210"	"0"	"c.2210G>C"	"r.(?)"	"p.(Arg737Thr)"	""
"0000304648"	"00014843"	"30"	"222"	"0"	"222"	"0"	"c.222C>T"	"r.(?)"	"p.(Leu74=)"	""
"0000304649"	"00014843"	"70"	"255"	"-1"	"255"	"-1"	"c.255-1G>A"	"r.spl?"	"p.?"	""
"0000346391"	"00014843"	"50"	"529"	"0"	"529"	"0"	"c.529C>T"	"r.(?)"	"p.(His177Tyr)"	""
"0000350175"	"00014843"	"70"	"2094"	"0"	"2098"	"0"	"c.2094_2098del"	"r.(?)"	"p.(Tyr698Ter)"	""
"0000525906"	"00014843"	"50"	"1617"	"0"	"1617"	"0"	"c.1617G>T"	"r.(?)"	"p.(Leu539Phe)"	""
"0000525907"	"00014843"	"90"	"1478"	"0"	"1478"	"0"	"c.1478del"	"r.(?)"	"p.(Asn493IlefsTer18)"	""
"0000525908"	"00014843"	"30"	"1445"	"0"	"1445"	"0"	"c.1445C>T"	"r.(?)"	"p.(Thr482Ile)"	""
"0000525910"	"00014843"	"50"	"123"	"0"	"123"	"0"	"c.123C>G"	"r.(?)"	"p.(Ile41Met)"	""
"0000525915"	"00014843"	"30"	"-23093"	"0"	"-23093"	"0"	"c.-23093G>A"	"r.(?)"	"p.(=)"	""
"0000609767"	"00014843"	"50"	"1226"	"4"	"1226"	"4"	"c.1226+4A>T"	"r.spl?"	"p.?"	""
"0000609768"	"00014843"	"10"	"466"	"-8"	"466"	"-8"	"c.466-8del"	"r.(=)"	"p.(=)"	""
"0000609769"	"00014843"	"50"	"149"	"0"	"149"	"0"	"c.149A>C"	"r.(?)"	"p.(His50Pro)"	""
"0000624895"	"00014843"	"90"	"430"	"0"	"431"	"0"	"c.430_431del"	"r.(?)"	"p.(Lys144ValfsTer7)"	""
"0000677532"	"00014843"	"30"	"1227"	"-6"	"1227"	"-5"	"c.1227-6_1227-5del"	"r.spl?"	"p.?"	""
"0000720473"	"00014843"	"70"	"1997"	"2"	"1997"	"2"	"c.1997+2dup"	"r.spl?"	"p.?"	""
"0000720474"	"00014843"	"70"	"466"	"-49"	"507"	"0"	"c.466-49_507del"	"r.spl?"	"p.?"	""
"0000786971"	"00014843"	"70"	"560"	"0"	"560"	"0"	"c.560del"	"r.(?)"	"p.(Pro187LeufsTer8)"	"5"
"0000802155"	"00014843"	"50"	"1838"	"0"	"1838"	"0"	"c.1838C>A"	"r.(?)"	"p.(Pro613Gln)"	""
"0000841168"	"00014843"	"90"	"430"	"0"	"431"	"0"	"c.430_431del"	"r.(?)"	"p.(Lys144ValfsTer7)"	""
"0000850941"	"00014843"	"30"	"129"	"0"	"129"	"0"	"c.129G>A"	"r.(?)"	"p.(Lys43=)"	""
"0000859982"	"00014843"	"50"	"1318"	"0"	"1318"	"0"	"c.1318C>T"	"r.(?)"	"p.(Pro440Ser)"	""
"0000929096"	"00014843"	"50"	"478"	"0"	"478"	"0"	"c.478C>T"	"r.(?)"	"p.(Arg160Cys)"	""
"0000963666"	"00014843"	"90"	"753"	"0"	"756"	"0"	"c.753_756del"	"r.(?)"	"p.(Ile251Metfs*26)"	""
"0001035280"	"00014843"	"30"	"1508"	"10"	"1508"	"10"	"c.1508+10G>A"	"r.(=)"	"p.(=)"	""
"0001035281"	"00014843"	"50"	"763"	"0"	"763"	"0"	"c.763G>A"	"r.(?)"	"p.(Gly255Ser)"	""
"0001035282"	"00014843"	"30"	"254"	"9"	"254"	"9"	"c.254+9G>T"	"r.(=)"	"p.(=)"	""
"0001051909"	"00014843"	"50"	"123"	"0"	"123"	"0"	"c.123C>G"	"r.(?)"	"p.(Ile41Met)"	""
"0001058962"	"00014843"	"90"	"1095"	"1"	"1095"	"1"	"c.1095+1G>A"	"r.spl"	"p.?"	""
"0001058963"	"00014843"	"90"	"1095"	"1"	"1095"	"1"	"c.1095+1G>A"	"r.spl"	"p.?"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 5
"{{screeningid}}"	"{{variantid}}"
"0000271047"	"0000624895"
"0000375620"	"0000786971"
"0000405107"	"0000841168"
"0000470840"	"0001058962"
"0000470841"	"0001058963"