### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = HERC2)
# 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}}"
"HERC2"	"HECT and RLD domain containing E3 ubiquitin protein ligase 2"	"15"	"q13"	"unknown"	"NG_016355.1"	"UD_134408436996"	""	"http://www.LOVD.nl/HERC2"	""	"1"	"4868"	"8924"	"605837"	"1"	"1"	"1"	"1"	"Establishment of this gene variant database (LSDB) was supported by the <a href=\'http://www.LUMC.nl\' target=\'_blank\'>Leiden University Medical Center (LUMC)</a>, Leiden, Nederland."	""	"g"	"http://databases.lovd.nl/shared/refseq/HERC2_codingDNA.html"	"1"	""	""	"-1"	""	"-1"	"00001"	"2010-04-29 00:00:00"	"00006"	"2016-06-11 20:50:15"	"00000"	"2025-11-01 13:22:20"


## 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}}"
"00009266"	"HERC2"	"HECT and RLD domain containing E3 ubiquitin protein ligase 2"	"001"	"NM_004667.5"	""	"NP_004658.3"	""	""	""	"-109"	"15231"	"14505"	"28567298"	"28356183"	""	"0000-00-00 00:00:00"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 8
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00000"	"Healthy/Control"	"Healthy individual / control"	""	""	""	""	""	"00000"	"2012-07-26 17:29:43"	""	""
"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"
"00478"	"SHEP1"	"pigmentation, hair, blond/brown - eyes, blue/non-blue, type 1 (SHEP-1, skin/hair/eye pigmentation)"	"AR"	"227220"	""	""	""	"00006"	"2014-07-24 21:52:52"	"00006"	"2021-12-10 21:51:32"
"01424"	"VMD"	"dystrophy, macular, vitelliform (VMD)"	""	""	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2020-07-06 09:48:47"
"03982"	"MRT38"	"mental retardation, autosomal recessive, type 38 (MRT38)"	"AR"	"615516"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-05-17 13:27:38"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"
"05663"	"SHEP"	"pigmentation, skin/eye/hair (SHEP)"	"PG"	""	""	""	""	"00006"	"2019-10-25 16:17:46"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"HERC2"	"00478"
"HERC2"	"03982"


## Individuals ## Do not remove or alter this header ##
## Count = 38
"{{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}}"
"00072301"	""	""	""	"1"	""	"01665"	"{PMID:Morice-Picard 2016:27759030}"	""	"M"	"yes"	"France"	"02y"	"0"	""	""	"Africa"	"patient"
"00074519"	""	""	""	"150"	""	"01606"	"{PMID:Eiberg 2008:18172690}, {DOI:Eiberg 2008:10.1007/s00439-007-0460-x}"	""	"-"	""	"Denmark"	""	""	""	""	""	"18172690 blue eyes"
"00074520"	""	""	""	"46"	""	"01606"	"{PMID:Eiberg 2008:18172690}, {DOI:Eiberg 2008:10.1007/s00439-007-0460-x}"	""	"-"	""	"Denmark"	""	""	""	""	""	"18172690 brown eyes"
"00081051"	""	""	""	"1"	""	"01758"	"{PMID:Trujillano 2017:27848944}"	"unaffected parents"	""	""	""	""	"0"	""	""	""	""
"00245699"	""	""	""	"7"	""	"02995"	""	"3 families (7 patients)"	"F"	"yes"	"United States"	""	"0"	""	""	"Old Order Amish"	""
"00266412"	""	""	""	"36"	""	"01873"	"Laboratorio de Diversidad Genética IMBICE, La Plata, Argentina"	"analysis 87 individuals"	"F;M"	""	"Argentina"	""	"0"	""	""	"admixed"	""
"00266413"	""	""	""	"51"	""	"01873"	"Laboratorio de Diversidad Genética IMBICE, La Plata, Argentina"	"analysis 87 individuals"	"F;M"	""	"Argentina"	""	"0"	""	""	"admixed"	""
"00291167"	""	""	""	"27"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00296606"	""	""	""	"1"	""	"00006"	"{PMID:Taylor 2014:25058219}"	""	"M"	""	"United Kingdom (Great Britain)"	""	"0"	""	""	"British"	"Pat39"
"00305912"	""	""	""	"1"	""	"00006"	"{PMID:Marcogliese 2018:30057031}"	"2-generation family, 1 affected, unaffected parents"	"F"	""	""	""	"0"	""	""	""	"Pat4"
"00373621"	""	""	""	"3"	""	"00006"	"{PMID:Elpidorou 2021:32571899}"	"2-generation family, 3 affected (2F, M)"	"F"	"yes"	"United Kingdom (Great Britain)"	"7y"	"0"	""	""	""	"FamPatII3"
"00373622"	""	""	"00373621"	"1"	""	"00006"	"{PMID:Elpidorou 2021:32571899}"	"brother"	"M"	"yes"	"United Kingdom (Great Britain)"	"4y"	"0"	""	""	""	"FamPatII5"
"00373623"	""	""	"00373621"	"1"	""	"00006"	"{PMID:Elpidorou 2021:32571899}"	"sister"	"F"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamPatII6"
"00373624"	""	""	""	"11"	""	"00006"	"{PMID:Harlalka 2013:23243086}"	"large multigeneration family, 11 affected (7F, 4M)"	"F"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamAPatVIII7"
"00373625"	""	""	"00373624"	"1"	""	"00006"	"{PMID:Harlalka 2013:23243086}"	""	"M"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamAPatVIII8"
"00373626"	""	""	"00373624"	"1"	""	"00006"	"{PMID:Harlalka 2013:23243086}"	""	"F"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamAPatIX1"
"00373627"	""	""	"00373624"	"1"	""	"00006"	"{PMID:Harlalka 2013:23243086}"	""	"M"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamAPatIX6"
"00373628"	""	""	"00373624"	"1"	""	"00006"	"{PMID:Harlalka 2013:23243086}"	""	"F"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamAPatIX7"
"00373629"	""	""	"00373624"	"1"	""	"00006"	"{PMID:Harlalka 2013:23243086}"	""	"F"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamAPatX1"
"00373630"	""	""	"00373624"	"1"	""	"00006"	"{PMID:Harlalka 2013:23243086}"	""	"F"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamAPatX2"
"00373631"	""	""	"00373624"	"1"	""	"00006"	"{PMID:Harlalka 2013:23243086}"	""	"F"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamAPatX4"
"00373632"	""	""	"00373624"	"1"	""	"00006"	"{PMID:Harlalka 2013:23243086}"	""	"F"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamAPatX5"
"00373633"	""	""	"00373624"	"1"	""	"00006"	"{PMID:Harlalka 2013:23243086}"	""	"M"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamAPatXI2"
"00373634"	""	""	"00373624"	"1"	""	"00006"	"{PMID:Harlalka 2013:23243086}"	""	"M"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamAPatXI3"
"00373635"	""	""	""	"4"	""	"00006"	"{PMID:Harlalka 2013:23243086}"	"9-generation family, 4 affected (2F, 2M)"	"M"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamBPatIX8"
"00373636"	""	""	"00373635"	"1"	""	"00006"	"{PMID:Harlalka 2013:23243086}"	"brother"	"M"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamBPatIX10"
"00373637"	""	""	"00373635"	"1"	""	"00006"	"{PMID:Harlalka 2013:23243086}"	"sister"	"F"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamBPatIX1"
"00373638"	""	""	"00373635"	"1"	""	"00006"	"{PMID:Harlalka 2013:23243086}"	"sister"	"F"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	"FamBPatIX2"
"00373639"	""	""	""	"3"	""	"00006"	"{PMID:Puffenberger 2012:23065719}"	""	""	"yes"	"United States"	""	"0"	""	""	"Amish"	"Michigan-P1"
"00373640"	""	""	"00373639"	"1"	""	"00006"	"{PMID:Puffenberger 2012:23065719}"	""	""	"yes"	"United States"	""	"0"	""	""	"Amish"	"Michigan-P2"
"00373641"	""	""	"00373639"	"1"	""	"00006"	"{PMID:Puffenberger 2012:23065719}"	""	""	"yes"	"United States"	""	"0"	""	""	"Amish"	"Michigan-P3"
"00373642"	""	""	""	"2"	""	"00006"	"{PMID:Puffenberger 2012:23065719}"	""	"F"	"yes"	"United States"	""	"0"	""	""	"Amish‐Mennonite"	"Wisconsin-P1"
"00373643"	""	""	"00373642"	"1"	""	"00006"	"{PMID:Puffenberger 2012:23065719}"	""	"F"	"yes"	"United States"	""	"0"	""	""	"Amish‐Mennonite"	"Wisconsin-P2"
"00373644"	""	""	""	"2"	""	"00006"	"{PMID:Puffenberger 2012:23065719}, {PMID:Abraham 2019:30902390}"	""	"F"	""	"United States"	""	"0"	""	""	"Amish"	"Ohio-P1;#1"
"00373645"	""	""	"00373644"	"1"	""	"00006"	"{PMID:Puffenberger 2012:23065719}, {PMID:Abraham 2019:30902390}"	""	"M"	""	"United States"	""	"0"	""	""	"Amish"	"Ohio-P2;#2"
"00373646"	""	""	""	"1"	""	"00006"	"{PMID:Abraham 2019:30902390}"	""	"M"	""	"United States"	""	"0"	""	""	"Jewish-Ashkenazi"	"#3"
"00373647"	""	""	""	"1"	""	"00006"	"{PMID:Abraham 2019:30902390}"	""	"F"	""	"United States"	""	"0"	""	""	"Pakistan"	"#4"
"00467784"	""	""	""	"1"	""	"00006"	"{PMID:Charng 2016:27435318}"	"2-generation family, 1 affected, unaffected heterozygous carrier parents"	""	"yes"	"Saudi Arabia"	""	"0"	""	""	""	"Fam056PatBAB6942"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 39
"{{individualid}}"	"{{diseaseid}}"
"00072301"	"00198"
"00074519"	"00198"
"00074520"	"00000"
"00081051"	"03982"
"00245699"	"00198"
"00266412"	"05663"
"00266413"	"05663"
"00291167"	"00198"
"00296606"	"00198"
"00305912"	"01424"
"00305912"	"05611"
"00373621"	"00139"
"00373622"	"00139"
"00373623"	"00139"
"00373624"	"00139"
"00373625"	"00139"
"00373626"	"00139"
"00373627"	"00139"
"00373628"	"00139"
"00373629"	"00139"
"00373630"	"00139"
"00373631"	"00139"
"00373632"	"00139"
"00373633"	"00139"
"00373634"	"00139"
"00373635"	"00139"
"00373636"	"00139"
"00373637"	"00139"
"00373638"	"00139"
"00373639"	"00139"
"00373640"	"00139"
"00373641"	"00139"
"00373642"	"00139"
"00373643"	"00139"
"00373644"	"00139"
"00373645"	"00139"
"00373646"	"00139"
"00373647"	"00139"
"00467784"	"05611"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00000, 00139, 00198, 00478, 01424, 03982, 05611, 05663
## Count = 35
"{{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}}"
"0000052006"	"00198"	"00072301"	"01665"	"Familial, autosomal recessive"	"00y01m"	"axial hypotonia (HP:0008936), peripheral hypertonia (HP:0001276), ductus arteriosus (HP:0001643), pulmonary hypertension (HP:0002092), albinism (HP:0001022)"	"00y01m"	""	"00y06m"	""	""	""	""	""	""	""	""	""
"0000054311"	"00198"	"00074519"	"01606"	"Familial, autosomal recessive"	""	"Blue irides (HP:0000635)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000054312"	"00000"	"00074520"	"01606"	"Familial, autosomal dominant"	""	"No blue irides (-HP:0000635)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000060620"	"03982"	"00081051"	"01758"	"Familial, autosomal recessive"	""	"Mental retardation, autosomal recessive 38 (OMIM:615516)"	""	""	""	""	""	""	""	""	""	""	""	""
"0000185605"	"00198"	"00245699"	"02995"	"Familial, autosomal recessive"	""	"global developmental delay; autism spectrum disorder"	""	""	""	""	""	""	""	""	""	""	""	""
"0000224012"	"00198"	"00296606"	"00006"	"Unknown"	"5y"	"muscle affected; central nervous system affected; heart not affected; liver not affected; central hypotonia, ptosis, deafness"	"<1y"	""	""	""	""	""	""	""	""	""	"multiple mitochondrial respiratory chain complex deficiency"	""
"0000231759"	"05611"	"00305912"	"00006"	"Unknown"	"16y"	"no dysmorphisms; motor regression present (age onset unknown); 12y-single words; unsteady gait, clumsy, 12y-mostly wheelchair-bound; 12y-loss of fine motor skills; excessive drooling; 12y-lost continence; 15y-lower extremity dystonia; bilateral ptosis, macular degeneration; 12y-poor balance; Bracken Basics Concepts III Receptive and School Readiness Composite, Conner’s Parent Rating Scale, 6y-Child Behavior Checklist intellectual functioning at approximately 1-3 year level; 13y-epilepsy, spells that consist of falling that last about 1 min; EEG 6.5y-no electrographic or electroclinical sz, but photic stim produced photoconvulsive response, 13y-moderately abnormal - recorded photo myoclonic sz during intermittent photic stim, generalized interictal epileptiform features, sleep architecture was additionally somewhat disrupted with high-voltage rhythmic delta; MRI brain 6y-normal, 13y-normal, 15y-thin corpus callosum but overall within normal limits, MRI brain 13y-spine normal, 15y-spine normal"	""	""	""	""	""	""	""	""	""	"NDD;VMD2"	""	""
"0000268895"	"00139"	"00373621"	"00006"	"Familial, autosomal recessive"	"6y"	"normal speech; age walking normal; profound intellectual disability; childhood hypotonia; seizures; cortical migration defect, absent corpus callosum; blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268896"	"00139"	"00373622"	"00006"	"Familial, autosomal recessive"	"1y6m"	"normal speech; age walking normal; profound intellectual disability; childhood hypotonia; no seizures; cortical migration defect, absent corpus callosum; blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268897"	"00139"	"00373623"	"00006"	"Familial, autosomal recessive"	"3y6m"	"normal speech; age walking normal; profound intellectual disability; childhood hypotonia; seizures; cortical migration defect, absent corpus callosum; blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268898"	"00139"	"00373624"	"00006"	"Familial, autosomal recessive"	"39y"	"speech 100 words; 4y4m-walk; moderate intellectual disability; childhood hypotonia; no seizures; neuroimaging normal; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268899"	"00139"	"00373625"	"00006"	"Familial, autosomal recessive"	"35y"	"speech <30 words; 4y4m-walk; moderate/severe intellectual disability; childhood hypotonia; no seizures; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268900"	"00139"	"00373626"	"00006"	"Familial, autosomal recessive"	"24y"	"speech short sentence; 4; moderate intellectual disability; childhood hypotonia; no seizures; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268901"	"00139"	"00373627"	"00006"	"Familial, autosomal recessive"	"17y"	"speech short sentence; 4; moderate intellectual disability; childhood hypotonia; seizures; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268902"	"00139"	"00373628"	"00006"	"Familial, autosomal recessive"	"19y"	"speech short sentence; 4; moderate intellectual disability; childhood hypotonia; no seizures; neuroimaging normal; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268903"	"00139"	"00373629"	"00006"	"Familial, autosomal recessive"	"13y7m"	"speech <30 words; 4; moderate intellectual disability; childhood hypotonia; no seizures; neuroimaging normal; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268904"	"00139"	"00373630"	"00006"	"Familial, autosomal recessive"	"12y7m"	"speech 10 words; 4; moderate intellectual disability; childhood hypotonia; no seizures; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268905"	"00139"	"00373631"	"00006"	"Familial, autosomal recessive"	"5y1m"	"normal speech; age walking normal; moderate/severe intellectual disability; childhood hypotonia; no seizures; absent corpus callosum; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268906"	"00139"	"00373632"	"00006"	"Familial, autosomal recessive"	"6y8m"	"speech short sentence; 5; moderate intellectual disability; childhood hypotonia; no seizures; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268907"	"00139"	"00373633"	"00006"	"Familial, autosomal recessive"	"7y10m"	"speech limited; 3y6m-walk; mild intellectual disability; childhood hypotonia; no seizures; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268908"	"00139"	"00373634"	"00006"	"Familial, autosomal recessive"	"5y2m"	"speech 20 words; age walking normal; moderate intellectual disability; childhood hypotonia; seizures; absent corpus callosum; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268909"	"00139"	"00373635"	"00006"	"Familial, autosomal recessive"	"17y10m"	"speech short sentence; 4y6m-walk; mild/moderate intellectual disability; seizures; absent corpus callosum; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268910"	"00139"	"00373636"	"00006"	"Familial, autosomal recessive"	"16y10m"	"speech short sentence; 4; mild/moderate intellectual disability; no seizures; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268911"	"00139"	"00373637"	"00006"	"Familial, autosomal recessive"	"1y"	"normal speech; age walking normal; moderate intellectual disability; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268912"	"00139"	"00373638"	"00006"	"Familial, autosomal recessive"	"2y9m"	"speech <10 words; age walking normal; mild/moderate intellectual disability; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268913"	"00139"	"00373639"	"00006"	"Familial, autosomal recessive"	"32y"	"global developmental delay, intellectual disability; delayed adaptive hand use; delayed independent ambulation, gait instability; autistic behaviour, aggression or self injury; neonatal hypotonia;  ; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268914"	"00139"	"00373640"	"00006"	"Familial, autosomal recessive"	"25y"	"global developmental delay, intellectual disability; delayed adaptive hand use; delayed independent ambulation, gait instability; autistic behaviour, aggression or self injury; neonatal hypotonia;  ; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268915"	"00139"	"00373641"	"00006"	"Familial, autosomal recessive"	"31y"	"global developmental delay, intellectual disability; delayed adaptive hand use; delayed independent ambulation;  ; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268916"	"00139"	"00373642"	"00006"	"Familial, autosomal recessive"	"7y"	"global developmental delay, intellectual disability; delayed adaptive hand use; delayed independent ambulation, gait instability; autistic behaviour; inattention, distractibility; febrile seizure;  ; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268917"	"00139"	"00373643"	"00006"	"Familial, autosomal recessive"	"2y"	"global developmental delay, intellectual disability; delayed adaptive hand use; delayed independent ambulation, gait instability; autistic behaviour, aggression or self injury; inattention, distractibility; febrile seizure;  ; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268918"	"00139"	"00373644"	"00006"	"Familial, autosomal recessive"	"40y"	"global developmental delay, intellectual disability; delayed adaptive hand use; delayed independent ambulation, gait instability; autistic behaviour; neonatal hypotonia; inattention, distractibility; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268919"	"00139"	"00373645"	"00006"	"Familial, autosomal recessive"	"37y"	"global developmental delay, intellectual disability; delayed adaptive hand use; delayed independent ambulation, gait instability; autistic behaviour, aggression or self injury; neonatal hypotonia; inattention, distractibility; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268920"	"00139"	"00373646"	"00006"	"Familial, autosomal recessive"	"23y"	"see paper; ..., speech few words; age walking normal; intellectual disability, autism, abnormal gait; no childhood hypotonia; no seizures"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000268921"	"00139"	"00373647"	"00006"	"Familial, autosomal recessive"	"11y"	"see paper; ..., speech 2y-10 words, 3y-short sentence; age walking normal; +; no childhood hypotonia; seizures; neuroimaging normal; no blindness"	""	""	""	""	""	""	""	""	""	""	"intellectual disability"	""
"0000352937"	"05611"	"00467784"	"00006"	"Familial, autosomal recessive"	""	""	""	""	""	""	""	""	""	""	""	"MRT38"	"neurodevelopmental disorder"	""


## Screenings ## Do not remove or alter this header ##
## Count = 38
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000072458"	"00072301"	"1"	"01665"	"01665"	"2016-06-03 16:19:11"	""	""	"arrayCGH"	"DNA"	""	""
"0000074683"	"00074519"	"1"	"01606"	"01606"	"2016-07-06 13:39:23"	""	""	"SEQ"	"DNA"	""	""
"0000074684"	"00074520"	"1"	"01606"	"01606"	"2016-07-06 14:02:49"	""	""	"SEQ"	"DNA"	""	""
"0000081163"	"00081051"	"1"	"01758"	"00006"	"2016-09-07 13:24:08"	""	""	"SEQ;SEQ-NG"	"DNA"	""	""
"0000246811"	"00245699"	"1"	"02995"	"02995"	"2012-09-06 20:52:11"	"00006"	"2012-09-08 19:43:21"	"MCA;RT-PCR;SEQ"	"DNA;RNA"	""	""
"0000267539"	"00266412"	"1"	"01873"	"01873"	"2019-07-11 22:34:21"	""	""	"SEQ"	"DNA"	""	""
"0000267540"	"00266413"	"1"	"01873"	"01873"	"2019-07-11 22:34:21"	""	""	"SEQ"	"DNA"	""	""
"0000292335"	"00291167"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000297716"	"00296606"	"1"	"00006"	"00006"	"2020-04-08 15:05:07"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"
"0000307042"	"00305912"	"1"	"00006"	"00006"	"2020-07-05 16:07:27"	"00006"	"2020-07-06 09:46:49"	"SEQ;SEQ-NG"	"DNA"	""	""
"0000374854"	"00373621"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374855"	"00373622"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374856"	"00373623"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374857"	"00373624"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374858"	"00373625"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374859"	"00373626"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374860"	"00373627"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374861"	"00373628"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374862"	"00373629"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374863"	"00373630"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374864"	"00373631"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374865"	"00373632"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374866"	"00373633"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374867"	"00373634"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374868"	"00373635"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374869"	"00373636"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374870"	"00373637"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374871"	"00373638"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374872"	"00373639"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374873"	"00373640"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374874"	"00373641"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374875"	"00373642"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374876"	"00373643"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374877"	"00373644"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374878"	"00373645"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374879"	"00373646"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000374880"	"00373647"	"1"	"00006"	"00006"	"2021-05-17 13:51:11"	""	""	"SEQ"	"DNA"	""	""
"0000469450"	"00467784"	"1"	"00006"	"00006"	"2025-10-30 10:25:01"	""	""	"SEQ;SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 36
"{{screeningid}}"	"{{geneid}}"
"0000072458"	"HERC2"
"0000074683"	"HERC2"
"0000074683"	"OCA2"
"0000074684"	"HERC2"
"0000074684"	"OCA2"
"0000081163"	"HERC2"
"0000246811"	"HERC2"
"0000307042"	"BEST1"
"0000307042"	"IRF2BPL"
"0000374854"	"HERC2"
"0000374855"	"HERC2"
"0000374856"	"HERC2"
"0000374857"	"HERC2"
"0000374858"	"HERC2"
"0000374859"	"HERC2"
"0000374860"	"HERC2"
"0000374861"	"HERC2"
"0000374862"	"HERC2"
"0000374863"	"HERC2"
"0000374864"	"HERC2"
"0000374865"	"HERC2"
"0000374866"	"HERC2"
"0000374867"	"HERC2"
"0000374868"	"HERC2"
"0000374869"	"HERC2"
"0000374870"	"HERC2"
"0000374871"	"HERC2"
"0000374872"	"HERC2"
"0000374873"	"HERC2"
"0000374874"	"HERC2"
"0000374875"	"HERC2"
"0000374876"	"HERC2"
"0000374877"	"HERC2"
"0000374878"	"HERC2"
"0000374879"	"HERC2"
"0000374880"	"HERC2"


## 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 = 231
"{{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}}"
"0000116017"	"0"	"90"	"15"	"28143765"	"28429460"	"del"	"0"	"01665"	"HERC2_000000"	"g.28143765_28429460del"	""	"{PMID:Morice-Picard 2016:27759030}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.27898619_28184314del"	""	"pathogenic"	""
"0000119726"	"3"	"70"	"15"	"28365618"	"28365618"	"subst"	"0"	"01606"	"HERC2_000042"	"g.28365618A>G"	""	"{PMID:Eiberg 2008:18172690}, {DOI:Eiberg 2008:10.1007/s00439-007-0460-x}"	""	""	"effects regulation OCA2 gene"	"Germline"	""	"rs12913832"	"0"	""	""	"g.28120472A>G"	""	"association"	""
"0000119727"	"3"	"50"	"15"	"28356859"	"28356859"	"subst"	"0.496023"	"01606"	"HERC2_000002"	"g.28356859C>T"	""	"{PMID:Eiberg 2008:18172690}, {DOI:Eiberg 2008:10.1007/s00439-007-0460-x}"	""	""	""	"Germline"	""	"rs1129038"	"0"	""	""	"g.28111713C>T"	""	"VUS"	""
"0000119728"	"1"	"50"	"15"	"28356859"	"28356859"	"subst"	"0.496023"	"01606"	"HERC2_000002"	"g.28356859C>T"	"MAF/MinorAlleleCount: T=0.1769/886 (1000 Genomes)"	"{PMID:Eiberg 2008:18172690}, {DOI:Eiberg 2008:10.1007/s00439-007-0460-x}"	""	""	""	"Germline"	""	"rs1129038"	"0"	""	""	"g.28111713C>T"	""	"VUS"	""
"0000119729"	"1"	"70"	"15"	"28365618"	"28365618"	"subst"	"0"	"01606"	"HERC2_000042"	"g.28365618A>G"	"MAF/MinorAlleleCount: G=0.1773/888 (1000 Genomes)"	"{PMID:Eiberg 2008:18172690}, {DOI:Eiberg 2008:10.1007/s00439-007-0460-x}"	""	""	"affects regulation OCA2 gene"	"Germline"	""	"rs12913832"	"0"	""	""	"g.28120472A>G"	""	"association"	""
"0000130249"	"3"	"70"	"15"	"28475647"	"28475647"	"subst"	"0"	"01758"	"HERC2_000003"	"g.28475647C>T"	""	"{PMID:Trujillano 2017:27848944}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.28230501C>T"	""	"likely pathogenic"	"ACMG"
"0000252627"	"0"	"90"	"15"	"28419539"	"28419539"	"subst"	"0"	"02326"	"HERC2_000014"	"g.28419539A>T"	""	""	""	"HERC2(NM_004667.5):c.10057+2T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28174393A>T"	""	"pathogenic"	""
"0000253516"	"0"	"10"	"15"	"28419650"	"28419650"	"subst"	"0.00408508"	"01943"	"HERC2_000018"	"g.28419650A>G"	""	""	""	"HERC2(NM_004667.5):c.9948T>C (p.C3316=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28174504A>G"	""	"benign"	""
"0000253522"	"0"	"10"	"15"	"28375310"	"28375310"	"subst"	"0.00177689"	"01943"	"HERC2_000007"	"g.28375310A>T"	""	""	""	"HERC2(NM_004667.5):c.12801T>A (p.D4267E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28130164A>T"	""	"benign"	""
"0000253655"	"0"	"10"	"15"	"28482209"	"28482209"	"subst"	"0.000994263"	"01943"	"HERC2_000034"	"g.28482209A>T"	""	""	""	"HERC2(NM_004667.5):c.3903T>A (p.P1301=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28237063A>T"	""	"benign"	""
"0000253689"	"0"	"10"	"15"	"28447562"	"28447562"	"subst"	"0"	"01943"	"HERC2_000027"	"g.28447562A>G"	""	""	""	"HERC2(NM_004667.5):c.7411T>C (p.S2471P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28202416A>G"	""	"benign"	""
"0000281275"	"0"	"50"	"15"	"28517429"	"28517429"	"subst"	"0"	"02325"	"HERC2_000038"	"g.28517429G>A"	""	""	""	"HERC2(NM_004667.5):c.1015C>T (p.P339S), HERC2(NM_004667.6):c.1015C>T (p.P339S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28272283G>A"	""	"VUS"	""
"0000281276"	"0"	"50"	"15"	"28397906"	"28397906"	"subst"	"1.33002E-5"	"02325"	"HERC2_000013"	"g.28397906C>T"	""	""	""	"HERC2(NM_004667.6):c.10817G>A (p.R3606H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28152760C>T"	""	"VUS"	""
"0000281277"	"0"	"50"	"15"	"28377879"	"28377879"	"subst"	"2.07975E-5"	"02325"	"HERC2_000010"	"g.28377879C>T"	""	""	""	"HERC2(NM_004667.6):c.12328G>A (p.G4110R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28132733C>T"	""	"VUS"	""
"0000281278"	"0"	"50"	"15"	"28478316"	"28478316"	"subst"	"0.000423139"	"02325"	"HERC2_000032"	"g.28478316T>G"	""	""	""	"HERC2(NM_004667.5):c.4651A>C (p.I1551L), HERC2(NM_004667.6):c.4651A>C (p.I1551L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28233170T>G"	""	"VUS"	""
"0000281279"	"0"	"50"	"15"	"28443903"	"28443903"	"subst"	"0.000324841"	"02325"	"HERC2_000024"	"g.28443903C>T"	""	""	""	"HERC2(NM_004667.5):c.7729G>A (p.V2577I), HERC2(NM_004667.6):c.7729G>A (p.V2577I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28198757C>T"	""	"VUS"	""
"0000281280"	"0"	"30"	"15"	"28424169"	"28424169"	"subst"	"8.13326E-6"	"02325"	"HERC2_000022"	"g.28424169C>G"	""	""	""	"HERC2(NM_004667.6):c.9027G>C (p.V3009=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28179023C>G"	""	"likely benign"	""
"0000289018"	"0"	"10"	"15"	"28419587"	"28419587"	"subst"	"0"	"01943"	"HERC2_000015"	"g.28419587G>A"	""	""	""	"HERC2(NM_004667.5):c.10011C>T (p.P3337=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28174441G>A"	""	"benign"	""
"0000289019"	"0"	"10"	"15"	"28517361"	"28517361"	"subst"	"0"	"01943"	"HERC2_000037"	"g.28517361G>A"	""	""	""	"HERC2(NM_004667.5):c.1083C>T (p.H361=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28272215G>A"	""	"benign"	""
"0000289020"	"0"	"30"	"15"	"28386965"	"28386965"	"subst"	"8.12704E-6"	"01943"	"HERC2_000012"	"g.28386965C>G"	""	""	""	"HERC2(NM_004667.5):c.11728G>C (p.A3910P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28141819C>G"	""	"likely benign"	""
"0000289021"	"0"	"50"	"15"	"28377386"	"28377386"	"subst"	"8.19148E-6"	"01943"	"HERC2_000009"	"g.28377386G>A"	""	""	""	"HERC2(NM_004667.5):c.12430C>T (p.R4144C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28132240G>A"	""	"VUS"	""
"0000289022"	"0"	"30"	"15"	"28375699"	"28375699"	"subst"	"0.00547376"	"01943"	"HERC2_000008"	"g.28375699G>A"	""	""	""	"HERC2(NM_004667.5):c.12612C>T (p.C4204=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28130553G>A"	""	"likely benign"	""
"0000289023"	"0"	"30"	"15"	"28362259"	"28362259"	"subst"	"3.25158E-5"	"01943"	"HERC2_000006"	"g.28362259G>A"	""	""	""	"HERC2(NM_004667.5):c.13314C>T (p.D4438=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28117113G>A"	""	"likely benign"	""
"0000289024"	"0"	"10"	"15"	"28360659"	"28360659"	"subst"	"0.000676375"	"01943"	"HERC2_000005"	"g.28360659G>A"	""	""	""	"HERC2(NM_004667.5):c.13638C>T (p.T4546=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28115513G>A"	""	"benign"	""
"0000289025"	"0"	"10"	"15"	"28358331"	"28358331"	"subst"	"0.00291201"	"01943"	"HERC2_000004"	"g.28358331C>T"	""	""	""	"HERC2(NM_004667.5):c.14118G>A (p.E4706=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28113185C>T"	""	"benign"	""
"0000289026"	"0"	"30"	"15"	"28510840"	"28510840"	"subst"	"7.30941E-5"	"01943"	"HERC2_000036"	"g.28510840G>A"	""	""	""	"HERC2(NM_004667.5):c.1794C>T (p.A598=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28265694G>A"	""	"likely benign"	""
"0000289027"	"0"	"10"	"15"	"28502335"	"28502335"	"subst"	"0.00281996"	"01943"	"HERC2_000035"	"g.28502335T>C"	""	""	""	"HERC2(NM_004667.5):c.2389A>G (p.M797V), HERC2(NM_004667.6):c.2389A>G (p.(Met797Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28257189T>C"	""	"benign"	""
"0000289028"	"0"	"10"	"15"	"28479425"	"28479425"	"subst"	"0.00235663"	"01943"	"HERC2_000033"	"g.28479425G>A"	""	""	""	"HERC2(NM_004667.5):c.4009C>T (p.L1337F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28234279G>A"	""	"benign"	""
"0000289029"	"0"	"50"	"15"	"28478316"	"28478316"	"subst"	"0.000423139"	"01943"	"HERC2_000032"	"g.28478316T>G"	""	""	""	"HERC2(NM_004667.5):c.4651A>C (p.I1551L), HERC2(NM_004667.6):c.4651A>C (p.I1551L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28233170T>G"	""	"VUS"	""
"0000289030"	"0"	"10"	"15"	"28467249"	"28467249"	"subst"	"0.00154507"	"01943"	"HERC2_000029"	"g.28467249T>A"	""	""	""	"HERC2(NM_004667.5):c.5577A>T (p.S1859=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28222103T>A"	""	"benign"	""
"0000289031"	"0"	"30"	"15"	"28447587"	"28447587"	"subst"	"0"	"01943"	"HERC2_000028"	"g.28447587C>T"	""	""	""	"HERC2(NM_004667.5):c.7386G>A (p.V2462=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28202441C>T"	""	"likely benign"	""
"0000289032"	"0"	"30"	"15"	"28447506"	"28447506"	"subst"	"0.000769131"	"01943"	"HERC2_000026"	"g.28447506T>C"	""	""	""	"HERC2(NM_004667.5):c.7467A>G (p.A2489=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28202360T>C"	""	"likely benign"	""
"0000289033"	"0"	"30"	"15"	"28446614"	"28446614"	"subst"	"0"	"01943"	"HERC2_000025"	"g.28446614T>C"	""	""	""	"HERC2(NM_004667.5):c.7704A>G (p.R2568=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28201468T>C"	""	"likely benign"	""
"0000289034"	"0"	"50"	"15"	"28443903"	"28443903"	"subst"	"0.000324841"	"01943"	"HERC2_000024"	"g.28443903C>T"	""	""	""	"HERC2(NM_004667.5):c.7729G>A (p.V2577I), HERC2(NM_004667.6):c.7729G>A (p.V2577I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28198757C>T"	""	"VUS"	""
"0000289035"	"0"	"50"	"15"	"28441442"	"28441442"	"subst"	"0.000260095"	"01943"	"HERC2_000023"	"g.28441442C>G"	""	""	""	"HERC2(NM_004667.5):c.8179G>C (p.D2727H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28196296C>G"	""	"VUS"	""
"0000289036"	"0"	"30"	"15"	"28422170"	"28422170"	"subst"	"0.000178719"	"01943"	"HERC2_000021"	"g.28422170G>A"	""	""	""	"HERC2(NM_004667.5):c.9358C>T (p.L3120=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28177024G>A"	""	"likely benign"	""
"0000289037"	"0"	"30"	"15"	"28420763"	"28420763"	"subst"	"0.000251803"	"01943"	"HERC2_000020"	"g.28420763G>A"	""	""	""	"HERC2(NM_004667.5):c.9726C>T (p.D3242=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28175617G>A"	""	"likely benign"	""
"0000289038"	"0"	"10"	"15"	"28419746"	"28419746"	"subst"	"0.126798"	"01943"	"HERC2_000019"	"g.28419746G>A"	""	""	""	"HERC2(NM_004667.5):c.9852C>T (p.N3284=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28174600G>A"	""	"benign"	""
"0000289039"	"0"	"50"	"15"	"28419606"	"28419606"	"subst"	"0.000285607"	"01943"	"HERC2_000017"	"g.28419606G>A"	""	""	""	"HERC2(NM_004667.5):c.9992C>T (p.T3331M), HERC2(NM_004667.6):c.9992C>T (p.(Thr3331Met), p.T3331M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28174460G>A"	""	"VUS"	""
"0000289040"	"0"	"10"	"15"	"28419604"	"28419604"	"subst"	"0.00140777"	"01943"	"HERC2_000016"	"g.28419604G>A"	""	""	""	"HERC2(NM_004667.5):c.9994C>T (p.P3332S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28174458G>A"	""	"benign"	""
"0000342550"	"0"	"50"	"15"	"28431807"	"28431807"	"subst"	"6.09241E-5"	"02327"	"HERC2_000041"	"g.28431807C>T"	""	""	""	"HERC2(NM_004667.6):c.8741G>A (p.(Arg2914His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28186661C>T"	""	"VUS"	""
"0000344771"	"0"	"70"	"15"	"28419577"	"28419577"	"subst"	"0"	"02327"	"HERC2_000040"	"g.28419577G>A"	""	""	""	"HERC2(NM_004667.5):c.10021C>T (p.Q3341*), HERC2(NM_004667.6):c.10021C>T (p.(Gln3341Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28174431G>A"	""	"likely pathogenic"	""
"0000346025"	"0"	"50"	"15"	"28397910"	"28397910"	"subst"	"1.328E-5"	"02327"	"HERC2_000039"	"g.28397910C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.28152764C>T"	""	"VUS"	""
"0000499599"	"3"	"95"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"02995"	"HERC2_000001"	"g.28510853G>A"	""	""	""	""	"not in 760 control chromosomes"	"Germline"	""	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000553760"	"0"	"50"	"15"	"28358225"	"28358225"	"subst"	"1.22818E-5"	"01943"	"HERC2_000043"	"g.28358225C>T"	""	""	""	"HERC2(NM_004667.5):c.14224G>A (p.V4742I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28113079C>T"	""	"VUS"	""
"0000553761"	"0"	"30"	"15"	"28358819"	"28358819"	"subst"	"0.00355002"	"01943"	"HERC2_000044"	"g.28358819T>C"	""	""	""	"HERC2(NM_004667.5):c.13919A>G (p.H4640R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28113673T>C"	""	"likely benign"	""
"0000553762"	"0"	"50"	"15"	"28359886"	"28359886"	"subst"	"3.24844E-5"	"02325"	"HERC2_000045"	"g.28359886C>A"	""	""	""	"HERC2(NM_004667.6):c.13785G>T (p.E4595D)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28114740C>A"	""	"VUS"	""
"0000553763"	"0"	"30"	"15"	"28361935"	"28361935"	"subst"	"3.27217E-5"	"01943"	"HERC2_000046"	"g.28361935G>A"	""	""	""	"HERC2(NM_004667.5):c.13485C>T (p.N4495=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28116789G>A"	""	"likely benign"	""
"0000553764"	"0"	"50"	"15"	"28366571"	"28366571"	"subst"	"2.43647E-5"	"01943"	"HERC2_000047"	"g.28366571G>A"	""	""	""	"HERC2(NM_004667.5):c.13193C>T (p.A4398V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28121425G>A"	""	"VUS"	""
"0000553765"	"0"	"30"	"15"	"28369237"	"28369237"	"subst"	"2.06991E-5"	"01943"	"HERC2_000048"	"g.28369237G>A"	""	""	""	"HERC2(NM_004667.5):c.13134C>T (p.L4378=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28124091G>A"	""	"likely benign"	""
"0000553766"	"0"	"30"	"15"	"28369386"	"28369386"	"subst"	"6.94647E-6"	"01943"	"HERC2_000049"	"g.28369386A>G"	""	""	""	"HERC2(NM_004667.5):c.12991-6T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28124240A>G"	""	"likely benign"	""
"0000553767"	"0"	"30"	"15"	"28370299"	"28370299"	"subst"	"0"	"01943"	"HERC2_000050"	"g.28370299C>T"	""	""	""	"HERC2(NM_004667.5):c.12843G>A (p.L4281=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28125153C>T"	""	"likely benign"	""
"0000553768"	"0"	"30"	"15"	"28387498"	"28387498"	"subst"	"0"	"01943"	"HERC2_000051"	"g.28387498C>T"	""	""	""	"HERC2(NM_004667.5):c.11586G>A (p.L3862=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28142352C>T"	""	"likely benign"	""
"0000553769"	"0"	"30"	"15"	"28388090"	"28388090"	"subst"	"1.2443E-5"	"01943"	"HERC2_000052"	"g.28388090T>C"	""	""	""	"HERC2(NM_004667.5):c.11427A>G (p.T3809=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28142944T>C"	""	"likely benign"	""
"0000553770"	"0"	"50"	"15"	"28389039"	"28389039"	"subst"	"5.68542E-5"	"01943"	"HERC2_000053"	"g.28389039C>G"	""	""	""	"HERC2(NM_004667.5):c.11398G>C (p.D3800H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28143893C>G"	""	"VUS"	""
"0000553771"	"0"	"50"	"15"	"28389831"	"28389831"	"subst"	"0"	"01943"	"HERC2_000054"	"g.28389831T>G"	""	""	""	"HERC2(NM_004667.5):c.11128A>C (p.M3710L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28144685T>G"	""	"VUS"	""
"0000553774"	"0"	"30"	"15"	"28408276"	"28408276"	"subst"	"0.00011896"	"01943"	"HERC2_000057"	"g.28408276G>A"	""	""	""	"HERC2(NM_004667.5):c.10710C>T (p.S3570=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28163130G>A"	""	"likely benign"	""
"0000553777"	"0"	"50"	"15"	"28414784"	"28414784"	"subst"	"2.45745E-5"	"02325"	"HERC2_000060"	"g.28414784C>A"	""	""	""	"HERC2(NM_004667.5):c.10075G>T (p.D3359Y), HERC2(NM_004667.6):c.10075G>T (p.D3359Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28169638C>A"	""	"VUS"	""
"0000553778"	"0"	"70"	"15"	"28419577"	"28419577"	"subst"	"0"	"01943"	"HERC2_000040"	"g.28419577G>A"	""	""	""	"HERC2(NM_004667.5):c.10021C>T (p.Q3341*), HERC2(NM_004667.6):c.10021C>T (p.(Gln3341Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28174431G>A"	""	"likely pathogenic"	""
"0000553779"	"0"	"90"	"15"	"28419577"	"28419577"	"subst"	"0"	"02326"	"HERC2_000040"	"g.28419577G>A"	""	""	""	"HERC2(NM_004667.5):c.10021C>T (p.Q3341*), HERC2(NM_004667.6):c.10021C>T (p.(Gln3341Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28174431G>A"	""	"pathogenic"	""
"0000553780"	"0"	"30"	"15"	"28419619"	"28419619"	"subst"	"0"	"01804"	"HERC2_000061"	"g.28419619C>T"	""	""	""	"HERC2(NM_004667.5):c.9979G>A (p.(Val3327Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28174473C>T"	""	"likely benign"	""
"0000553781"	"0"	"50"	"15"	"28419630"	"28419630"	"subst"	"1.62697E-5"	"01943"	"HERC2_000062"	"g.28419630G>A"	""	""	""	"HERC2(NM_004667.5):c.9968C>T (p.A3323V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28174484G>A"	""	"VUS"	""
"0000553783"	"0"	"30"	"15"	"28421900"	"28421900"	"subst"	"0.00015439"	"01943"	"HERC2_000064"	"g.28421900G>A"	""	""	""	"HERC2(NM_004667.5):c.9447C>T (p.L3149=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28176754G>A"	""	"likely benign"	""
"0000553784"	"0"	"50"	"15"	"28422571"	"28422571"	"subst"	"0"	"01943"	"HERC2_000065"	"g.28422571C>T"	""	""	""	"HERC2(NM_004667.5):c.9248G>A (p.S3083N)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28177425C>T"	""	"VUS"	""
"0000553785"	"0"	"30"	"15"	"28431807"	"28431807"	"subst"	"6.09241E-5"	"01804"	"HERC2_000041"	"g.28431807C>T"	""	""	""	"HERC2(NM_004667.6):c.8741G>A (p.(Arg2914His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28186661C>T"	""	"likely benign"	""
"0000553786"	"0"	"30"	"15"	"28447502"	"28447502"	"subst"	"0.000830112"	"01943"	"HERC2_000066"	"g.28447502T>C"	""	""	""	"HERC2(NM_004667.5):c.7471A>G (p.S2491G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28202356T>C"	""	"likely benign"	""
"0000553788"	"0"	"30"	"15"	"28447740"	"28447740"	"subst"	"1.3153E-5"	"01943"	"HERC2_000068"	"g.28447740G>A"	""	""	""	"HERC2(NM_004667.5):c.7233C>T (p.C2411=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28202594G>A"	""	"likely benign"	""
"0000553789"	"0"	"30"	"15"	"28447745"	"28447745"	"subst"	"1.34778E-5"	"01943"	"HERC2_000069"	"g.28447745C>T"	""	""	""	"HERC2(NM_004667.5):c.7228G>A (p.V2410I), HERC2(NM_004667.6):c.7228G>A (p.V2410I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28202599C>T"	""	"likely benign"	""
"0000553791"	"0"	"30"	"15"	"28456159"	"28456159"	"subst"	"0"	"01943"	"HERC2_000071"	"g.28456159G>C"	""	""	""	"HERC2(NM_004667.5):c.7058C>G (p.T2353S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28211013G>C"	""	"likely benign"	""
"0000553793"	"0"	"30"	"15"	"28458942"	"28458942"	"subst"	"0.000207332"	"01943"	"HERC2_000073"	"g.28458942C>A"	""	""	""	"HERC2(NM_004667.5):c.6732G>T (p.V2244=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28213796C>A"	""	"likely benign"	""
"0000553794"	"0"	"30"	"15"	"28459059"	"28459059"	"subst"	"0"	"01943"	"HERC2_000074"	"g.28459059T>C"	""	""	""	"HERC2(NM_004667.5):c.6615A>G (p.A2205=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28213913T>C"	""	"likely benign"	""
"0000553795"	"0"	"30"	"15"	"28459219"	"28459219"	"subst"	"0.00287893"	"01943"	"HERC2_000075"	"g.28459219C>T"	""	""	""	"HERC2(NM_004667.5):c.6555+3G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28214073C>T"	""	"likely benign"	""
"0000553796"	"0"	"30"	"15"	"28459227"	"28459227"	"subst"	"0"	"01943"	"HERC2_000076"	"g.28459227C>T"	""	""	""	"HERC2(NM_004667.5):c.6550G>A (p.E2184K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28214081C>T"	""	"likely benign"	""
"0000553797"	"0"	"50"	"15"	"28460900"	"28460900"	"subst"	"0"	"01943"	"HERC2_000077"	"g.28460900G>A"	""	""	""	"HERC2(NM_004667.5):c.6077C>T (p.T2026M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28215754G>A"	""	"VUS"	""
"0000553798"	"0"	"30"	"15"	"28463737"	"28463737"	"subst"	"0"	"01943"	"HERC2_000078"	"g.28463737G>A"	""	""	""	"HERC2(NM_004667.5):c.5926C>T (p.L1976=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28218591G>A"	""	"likely benign"	""
"0000553799"	"0"	"50"	"15"	"28465618"	"28465618"	"subst"	"4.14515E-6"	"02325"	"HERC2_000079"	"g.28465618G>A"	""	""	""	"HERC2(NM_004667.6):c.5825C>T (p.S1942L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28220472G>A"	""	"VUS"	""
"0000553801"	"0"	"30"	"15"	"28473386"	"28473386"	"subst"	"0.000622736"	"01943"	"HERC2_000081"	"g.28473386C>A"	""	""	""	"HERC2(NM_004667.5):c.5442G>T (p.T1814=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28228240C>A"	""	"likely benign"	""
"0000553802"	"0"	"30"	"15"	"28473388"	"28473388"	"subst"	"0.000614401"	"01943"	"HERC2_000082"	"g.28473388T>C"	""	""	""	"HERC2(NM_004667.5):c.5440A>G (p.T1814A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28228242T>C"	""	"likely benign"	""
"0000553803"	"0"	"30"	"15"	"28473399"	"28473399"	"subst"	"0.000614276"	"01943"	"HERC2_000083"	"g.28473399A>G"	""	""	""	"HERC2(NM_004667.5):c.5429T>C (p.M1810T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28228253A>G"	""	"likely benign"	""
"0000553804"	"0"	"50"	"15"	"28474669"	"28474669"	"subst"	"4.06593E-6"	"01943"	"HERC2_000084"	"g.28474669G>A"	""	""	""	"HERC2(NM_004667.5):c.5057C>T (p.P1686L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28229523G>A"	""	"VUS"	""
"0000553805"	"0"	"30"	"15"	"28474686"	"28474686"	"subst"	"0.0100066"	"02325"	"HERC2_000031"	"g.28474686G>C"	""	""	""	"HERC2(NM_004667.6):c.5040C>G (p.S1680R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28229540G>C"	""	"likely benign"	""
"0000553806"	"0"	"30"	"15"	"28475510"	"28475510"	"subst"	"8.72806E-6"	"01943"	"HERC2_000085"	"g.28475510C>G"	""	""	""	"HERC2(NM_004667.5):c.4809+3G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28230364C>G"	""	"likely benign"	""
"0000553807"	"0"	"50"	"15"	"28478852"	"28478852"	"subst"	"0"	"02325"	"HERC2_000086"	"g.28478852C>G"	""	""	""	"HERC2(NM_004667.6):c.4309G>C (p.G1437R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28233706C>G"	""	"VUS"	""
"0000553808"	"0"	"70"	"15"	"28479308"	"28479308"	"subst"	"0"	"01943"	"HERC2_000087"	"g.28479308G>A"	""	""	""	"HERC2(NM_004667.5):c.4126C>T (p.R1376*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28234162G>A"	""	"likely pathogenic"	""
"0000553811"	"0"	"30"	"15"	"28493793"	"28493793"	"subst"	"4.06147E-6"	"01804"	"HERC2_000089"	"g.28493793C>T"	""	""	""	"HERC2(NM_004667.5):c.3140G>A (p.(Arg1047Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28248647C>T"	""	"likely benign"	""
"0000553812"	"0"	"10"	"15"	"28502276"	"28502276"	"subst"	"0.00198594"	"01943"	"HERC2_000090"	"g.28502276G>A"	""	""	""	"HERC2(NM_004667.5):c.2448C>T (p.S816=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28257130G>A"	""	"benign"	""
"0000553813"	"0"	"30"	"15"	"28502410"	"28502410"	"subst"	"0"	"01943"	"HERC2_000091"	"g.28502410A>G"	""	""	""	"HERC2(NM_004667.5):c.2317-3T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28257264A>G"	""	"likely benign"	""
"0000553814"	"0"	"50"	"15"	"28508156"	"28508156"	"subst"	"0"	"01943"	"HERC2_000092"	"g.28508156T>C"	""	""	""	"HERC2(NM_004667.5):c.2030A>G (p.Q677R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28263010T>C"	""	"VUS"	""
"0000553815"	"0"	"30"	"15"	"28510988"	"28510988"	"subst"	"0.000109753"	"01943"	"HERC2_000093"	"g.28510988G>A"	""	""	""	"HERC2(NM_004667.5):c.1731C>T (p.R577=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28265842G>A"	""	"likely benign"	""
"0000553816"	"0"	"50"	"15"	"28515948"	"28515948"	"subst"	"0"	"01943"	"HERC2_000094"	"g.28515948C>T"	""	""	""	"HERC2(NM_004667.5):c.1150G>A (p.E384K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28270802C>T"	""	"VUS"	""
"0000553817"	"0"	"30"	"15"	"28517429"	"28517429"	"subst"	"0"	"01943"	"HERC2_000038"	"g.28517429G>A"	""	""	""	"HERC2(NM_004667.5):c.1015C>T (p.P339S), HERC2(NM_004667.6):c.1015C>T (p.P339S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28272283G>A"	""	"likely benign"	""
"0000553819"	"0"	"30"	"15"	"28518046"	"28518046"	"subst"	"0"	"01804"	"HERC2_000095"	"g.28518046G>A"	""	""	""	"HERC2(NM_004667.5):c.905C>T (p.(Thr302Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28272900G>A"	""	"likely benign"	""
"0000553824"	"0"	"30"	"15"	"28520046"	"28520046"	"subst"	"0.0038848"	"01943"	"HERC2_000100"	"g.28520046C>T"	""	""	""	"HERC2(NM_004667.5):c.643+5G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28274900C>T"	""	"likely benign"	""
"0000553826"	"0"	"50"	"15"	"28538063"	"28538063"	"subst"	"0"	"01943"	"HERC2_000101"	"g.28538063A>G"	""	""	""	"HERC2(NM_004667.5):c.293T>C (p.L98P), HERC2(NM_004667.6):c.293T>C (p.(Leu98Pro), p.L98P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28292917A>G"	""	"VUS"	""
"0000553827"	"0"	"30"	"15"	"28544541"	"28544541"	"subst"	"0.000255039"	"01943"	"HERC2_000102"	"g.28544541C>T"	""	""	""	"HERC2(NM_004667.5):c.187+7G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28299395C>T"	""	"likely benign"	""
"0000598771"	"1"	"10"	"15"	"28365618"	"28365618"	"subst"	"0"	"01873"	"HERC2_000042"	"g.28365618A>G"	"36/87 individuals"	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.28120472A>G"	""	"association"	""
"0000598772"	"3"	"10"	"15"	"28365618"	"28365618"	"subst"	"0"	"01873"	"HERC2_000042"	"g.28365618A>G"	"51/87 individuals"	""	""	""	""	"Germline"	""	""	"0"	""	""	"g.28120472A>G"	""	"association"	""
"0000615204"	"0"	"50"	"15"	"28377827"	"28377827"	"subst"	"4.56517E-6"	"02325"	"HERC2_000103"	"g.28377827T>C"	""	""	""	"HERC2(NM_004667.6):c.12380A>G (p.D4127G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28132681T>C"	""	"VUS"	""
"0000615205"	"0"	"30"	"15"	"28380836"	"28380836"	"subst"	"0.000533192"	"01943"	"HERC2_000104"	"g.28380836C>T"	""	""	""	"HERC2(NM_004667.5):c.12018G>A (p.L4006=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28135690C>T"	""	"likely benign"	""
"0000615206"	"0"	"30"	"15"	"28420810"	"28420810"	"subst"	"2.43869E-5"	"01943"	"HERC2_000106"	"g.28420810A>G"	""	""	""	"HERC2(NM_004667.5):c.9687-8T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28175664A>G"	""	"likely benign"	""
"0000615207"	"0"	"50"	"15"	"28424086"	"28424086"	"subst"	"0.000178701"	"02325"	"HERC2_000107"	"g.28424086C>T"	""	""	""	"HERC2(NM_004667.6):c.9110G>A (p.R3037Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28178940C>T"	""	"VUS"	""
"0000615208"	"0"	"10"	"15"	"28447322"	"28447322"	"subst"	"0.00328617"	"02327"	"HERC2_000108"	"g.28447322C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28202176C>T"	""	"benign"	""
"0000615209"	"0"	"30"	"15"	"28459241"	"28459241"	"subst"	"0"	"01943"	"HERC2_000109"	"g.28459241A>G"	""	""	""	"HERC2(NM_004667.5):c.6536T>C (p.V2179A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28214095A>G"	""	"likely benign"	""
"0000615210"	"0"	"30"	"15"	"28460782"	"28460782"	"subst"	"1.86837E-5"	"01943"	"HERC2_000110"	"g.28460782G>A"	""	""	""	"HERC2(NM_004667.5):c.6195C>T (p.T2065=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28215636G>A"	""	"likely benign"	""
"0000615211"	"0"	"30"	"15"	"28478362"	"28478362"	"subst"	"4.07282E-5"	"01943"	"HERC2_000112"	"g.28478362T>C"	""	""	""	"HERC2(NM_004667.5):c.4605A>G (p.K1535=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28233216T>C"	""	"likely benign"	""
"0000623198"	"0"	"30"	"15"	"28391422"	"28391422"	"subst"	"0.00284732"	"01943"	"HERC2_000105"	"g.28391422C>T"	""	""	""	"HERC2(NM_004667.5):c.10969G>A (p.V3657I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28146276C>T"	""	"likely benign"	""
"0000623199"	"0"	"50"	"15"	"28447745"	"28447745"	"subst"	"1.34778E-5"	"02325"	"HERC2_000069"	"g.28447745C>T"	""	""	""	"HERC2(NM_004667.5):c.7228G>A (p.V2410I), HERC2(NM_004667.6):c.7228G>A (p.V2410I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28202599C>T"	""	"VUS"	""
"0000623200"	"0"	"30"	"15"	"28460854"	"28460854"	"subst"	"0.00140635"	"01943"	"HERC2_000111"	"g.28460854G>A"	""	""	""	"HERC2(NM_004667.5):c.6123C>T (p.G2041=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28215708G>A"	""	"likely benign"	""
"0000649024"	"1"	"50"	"15"	"28412913"	"28412913"	"subst"	"0.000731018"	"03575"	"HERC2_000114"	"g.28412913A>G"	"27/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"27 heterozygous, no homozygous; {DB:CLININrs185865505}"	"Germline"	""	"rs185865505"	"0"	""	""	"g.28167767A>G"	""	"VUS"	""
"0000657543"	"0"	"50"	"15"	"28447712"	"28447712"	"subst"	"9.10316E-6"	"01943"	"HERC2_000115"	"g.28447712G>A"	""	""	""	"HERC2(NM_004667.5):c.7261C>T (p.P2421S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28202566G>A"	""	"VUS"	""
"0000657544"	"0"	"50"	"15"	"28474911"	"28474911"	"subst"	"2.03369E-5"	"01943"	"HERC2_000116"	"g.28474911G>A"	""	""	""	"HERC2(NM_004667.5):c.4892C>T (p.P1631L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.28229765G>A"	""	"VUS"	""
"0000660325"	"1"	"50"	"15"	"28459329"	"28459329"	"subst"	"0"	"00006"	"HERC2_000117"	"g.28459329G>C"	""	"{PMID:Taylor 2014:25058219}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.28214183G>C"	""	"VUS"	""
"0000660358"	"2"	"50"	"15"	"28419619"	"28419619"	"subst"	"0"	"00006"	"HERC2_000061"	"g.28419619C>T"	""	"{PMID:Taylor 2014:25058219}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.28174473C>T"	""	"VUS"	""
"0000673644"	"0"	"50"	"15"	"28391422"	"28391422"	"subst"	"0.00284732"	"00006"	"HERC2_000105"	"g.28391422C>T"	""	"{PMID:Marcogliese 2018:30057031}"	""	""	""	"Germline"	""	""	"0"	""	""	""	""	"VUS"	""
"0000680128"	"0"	"50"	"15"	"28358408"	"28358408"	"subst"	"0"	"01943"	"HERC2_000118"	"g.28358408G>A"	""	""	""	"HERC2(NM_004667.5):c.14041C>T (p.P4681S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000680129"	"0"	"30"	"15"	"28370275"	"28370275"	"subst"	"0.000824292"	"01943"	"HERC2_000119"	"g.28370275G>A"	""	""	""	"HERC2(NM_004667.5):c.12867C>T (p.I4289=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000680130"	"0"	"50"	"15"	"28389228"	"28389228"	"subst"	"0"	"01943"	"HERC2_000120"	"g.28389228G>C"	""	""	""	"HERC2(NM_004667.5):c.11294C>G (p.A3765G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000680131"	"0"	"50"	"15"	"28408274"	"28408274"	"subst"	"0.000119075"	"02325"	"HERC2_000121"	"g.28408274G>A"	""	""	""	"HERC2(NM_004667.6):c.10712C>T (p.A3571V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000680132"	"0"	"50"	"15"	"28412955"	"28412955"	"subst"	"0.0001794"	"02325"	"HERC2_000122"	"g.28412955C>T"	""	""	""	"HERC2(NM_004667.5):c.10432G>A (p.(Ala3478Thr)), HERC2(NM_004667.6):c.10432G>A (p.A3478T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000680133"	"0"	"50"	"15"	"28414784"	"28414784"	"subst"	"2.45745E-5"	"01943"	"HERC2_000060"	"g.28414784C>A"	""	""	""	"HERC2(NM_004667.5):c.10075G>T (p.D3359Y), HERC2(NM_004667.6):c.10075G>T (p.D3359Y)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000680134"	"0"	"30"	"15"	"28465634"	"28465634"	"subst"	"0"	"01943"	"HERC2_000123"	"g.28465634G>A"	""	""	""	"HERC2(NM_004667.5):c.5809C>T (p.P1937S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000680135"	"0"	"50"	"15"	"28475583"	"28475585"	"del"	"0"	"01943"	"HERC2_000124"	"g.28475583_28475585del"	""	""	""	"HERC2(NM_004667.5):c.4742_4744delAAG (p.E1581del)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000680136"	"0"	"50"	"15"	"28501145"	"28501145"	"subst"	"0.000881488"	"01943"	"HERC2_000125"	"g.28501145G>T"	""	""	""	"HERC2(NM_004667.5):c.2747-3C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000680137"	"0"	"50"	"15"	"28520147"	"28520147"	"subst"	"3.35818E-5"	"01943"	"HERC2_000126"	"g.28520147G>A"	""	""	""	"HERC2(NM_004667.5):c.547C>T (p.R183W)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000725016"	"0"	"50"	"15"	"28361811"	"28361811"	"subst"	"0"	"01943"	"HERC2_000127"	"g.28361811C>T"	""	""	""	"HERC2(NM_004667.5):c.13609G>A (p.G4537S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000725017"	"0"	"50"	"15"	"28391398"	"28391398"	"subst"	"4.06689E-6"	"02329"	"HERC2_000055"	"g.28391398C>T"	""	""	""	"HERC2(NM_004667.6):c.10993G>A (p.V3665I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000725018"	"0"	"50"	"15"	"28391413"	"28391413"	"subst"	"2.84525E-5"	"01943"	"HERC2_000128"	"g.28391413C>T"	""	""	""	"HERC2(NM_004667.5):c.10978G>A (p.G3660S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000725019"	"0"	"30"	"15"	"28412857"	"28412857"	"subst"	"0.000402027"	"01943"	"HERC2_000129"	"g.28412857T>C"	""	""	""	"HERC2(NM_004667.5):c.10530A>G (p.A3510=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000725020"	"0"	"50"	"15"	"28457699"	"28457699"	"subst"	"0"	"02329"	"HERC2_000072"	"g.28457699G>C"	""	""	""	"HERC2(NM_004667.6):c.6817C>G (p.(Leu2273Val), p.L2273V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000725021"	"0"	"50"	"15"	"28483791"	"28483791"	"subst"	"0.000142364"	"02329"	"HERC2_000088"	"g.28483791T>C"	""	""	""	"HERC2(NM_004667.6):c.3705A>G (p.I1235M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000725022"	"0"	"50"	"15"	"28538063"	"28538063"	"subst"	"0"	"02329"	"HERC2_000101"	"g.28538063A>G"	""	""	""	"HERC2(NM_004667.5):c.293T>C (p.L98P), HERC2(NM_004667.6):c.293T>C (p.(Leu98Pro), p.L98P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000785702"	"3"	"90"	"15"	"28359903"	"28359906"	"del"	"0"	"00006"	"HERC2_000130"	"g.28359903_28359906del"	""	"{PMID:Elpidorou 2021:32571899}"	""	"13767_13770delTGAA"	""	"Germline"	"yes"	""	"0"	""	""	"g.28114757_28114760del"	""	"pathogenic (recessive)"	""
"0000785703"	"3"	"90"	"15"	"28359903"	"28359906"	"del"	"0"	"00006"	"HERC2_000130"	"g.28359903_28359906del"	""	"{PMID:Elpidorou 2021:32571899}"	""	"13767_13770delTGAA"	""	"Germline"	"yes"	""	"0"	""	""	"g.28114757_28114760del"	""	"pathogenic (recessive)"	""
"0000785704"	"3"	"90"	"15"	"28359903"	"28359906"	"del"	"0"	"00006"	"HERC2_000130"	"g.28359903_28359906del"	""	"{PMID:Elpidorou 2021:32571899}"	""	"13767_13770delTGAA"	""	"Germline"	"yes"	""	"0"	""	""	"g.28114757_28114760del"	""	"pathogenic (recessive)"	""
"0000785705"	"3"	"90"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"00006"	"HERC2_000001"	"g.28510853G>A"	""	"{PMID:Harlalka 2013:23243086}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000785706"	"3"	"90"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"00006"	"HERC2_000001"	"g.28510853G>A"	""	"{PMID:Harlalka 2013:23243086}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000785707"	"3"	"90"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"00006"	"HERC2_000001"	"g.28510853G>A"	""	"{PMID:Harlalka 2013:23243086}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000785708"	"3"	"90"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"00006"	"HERC2_000001"	"g.28510853G>A"	""	"{PMID:Harlalka 2013:23243086}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000785709"	"3"	"90"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"00006"	"HERC2_000001"	"g.28510853G>A"	""	"{PMID:Harlalka 2013:23243086}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000785710"	"3"	"90"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"00006"	"HERC2_000001"	"g.28510853G>A"	""	"{PMID:Harlalka 2013:23243086}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000785711"	"3"	"90"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"00006"	"HERC2_000001"	"g.28510853G>A"	""	"{PMID:Harlalka 2013:23243086}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000785712"	"3"	"90"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"00006"	"HERC2_000001"	"g.28510853G>A"	""	"{PMID:Harlalka 2013:23243086}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000785713"	"3"	"90"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"00006"	"HERC2_000001"	"g.28510853G>A"	""	"{PMID:Harlalka 2013:23243086}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000785714"	"3"	"90"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"00006"	"HERC2_000001"	"g.28510853G>A"	""	"{PMID:Harlalka 2013:23243086}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000785715"	"3"	"90"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"00006"	"HERC2_000001"	"g.28510853G>A"	""	"{PMID:Harlalka 2013:23243086}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000785716"	"3"	"90"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"00006"	"HERC2_000001"	"g.28510853G>A"	""	"{PMID:Harlalka 2013:23243086}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000785717"	"3"	"90"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"00006"	"HERC2_000001"	"g.28510853G>A"	""	"{PMID:Harlalka 2013:23243086}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000785718"	"3"	"90"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"00006"	"HERC2_000001"	"g.28510853G>A"	""	"{PMID:Harlalka 2013:23243086}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000785719"	"3"	"90"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"00006"	"HERC2_000001"	"g.28510853G>A"	""	"{PMID:Harlalka 2013:23243086}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000785720"	"3"	"90"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"00006"	"HERC2_000001"	"g.28510853G>A"	""	"{PMID:Puffenberger 2012:23065719}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000785721"	"3"	"90"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"00006"	"HERC2_000001"	"g.28510853G>A"	""	"{PMID:Puffenberger 2012:23065719}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000785722"	"3"	"90"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"00006"	"HERC2_000001"	"g.28510853G>A"	""	"{PMID:Puffenberger 2012:23065719}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000785723"	"3"	"90"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"00006"	"HERC2_000001"	"g.28510853G>A"	""	"{PMID:Puffenberger 2012:23065719}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000785724"	"3"	"90"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"00006"	"HERC2_000001"	"g.28510853G>A"	""	"{PMID:Puffenberger 2012:23065719}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000785725"	"3"	"90"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"00006"	"HERC2_000001"	"g.28510853G>A"	""	"{PMID:Puffenberger 2012:23065719}, {PMID:Abraham 2019:30902390}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000785726"	"3"	"90"	"15"	"28510853"	"28510853"	"subst"	"4.06075E-6"	"00006"	"HERC2_000001"	"g.28510853G>A"	""	"{PMID:Puffenberger 2012:23065719}, {PMID:Abraham 2019:30902390}"	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.28265707G>A"	""	"pathogenic (recessive)"	""
"0000785727"	"3"	"90"	"15"	"28478342"	"28478342"	"subst"	"0"	"00006"	"HERC2_000131"	"g.28478342C>T"	""	"{PMID:Abraham 2019:30902390}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.28233196C>T"	""	"pathogenic (recessive)"	""
"0000785728"	"3"	"90"	"15"	"28478342"	"28478342"	"subst"	"0"	"00006"	"HERC2_000131"	"g.28478342C>T"	""	"{PMID:Abraham 2019:30902390}"	""	""	""	"Germline"	""	""	"0"	""	""	"g.28233196C>T"	""	"pathogenic (recessive)"	""
"0000806613"	"0"	"30"	"15"	"28362149"	"28362149"	"subst"	"0.000199347"	"01943"	"HERC2_000132"	"g.28362149A>C"	""	""	""	"HERC2(NM_004667.5):c.13414+10T>G, HERC2(NM_004667.6):c.13414+10T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000806614"	"0"	"50"	"15"	"28369364"	"28369364"	"subst"	"9.32238E-5"	"01943"	"HERC2_000133"	"g.28369364T>C"	""	""	""	"HERC2(NM_004667.5):c.13007A>G (p.N4336S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000806615"	"0"	"30"	"15"	"28380707"	"28380707"	"subst"	"0.00079184"	"01943"	"HERC2_000134"	"g.28380707C>T"	""	""	""	"HERC2(NM_004667.5):c.12147G>A (p.K4049=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000806616"	"0"	"50"	"15"	"28391439"	"28391439"	"subst"	"1.6247E-5"	"01943"	"HERC2_000135"	"g.28391439C>T"	""	""	""	"HERC2(NM_004667.5):c.10952G>A (p.R3651H)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000806617"	"0"	"50"	"15"	"28424137"	"28424137"	"subst"	"4.06095E-6"	"01943"	"HERC2_000136"	"g.28424137G>A"	""	""	""	"HERC2(NM_004667.5):c.9059C>T (p.T3020M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000806618"	"0"	"30"	"15"	"28437229"	"28437229"	"subst"	"0.000243863"	"01943"	"HERC2_000137"	"g.28437229T>C"	""	""	""	"HERC2(NM_004667.5):c.8329A>G (p.M2777V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000806619"	"0"	"30"	"15"	"28456295"	"28456295"	"subst"	"0.000121088"	"01943"	"HERC2_000138"	"g.28456295C>T"	""	""	""	"HERC2(NM_004667.5):c.6926-4G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000806620"	"0"	"30"	"15"	"28456296"	"28456296"	"subst"	"4.05438E-5"	"01943"	"HERC2_000139"	"g.28456296G>A"	""	""	""	"HERC2(NM_004667.5):c.6926-5C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000806621"	"0"	"30"	"15"	"28459898"	"28459898"	"subst"	"0.000304995"	"01943"	"HERC2_000140"	"g.28459898G>A"	""	""	""	"HERC2(NM_004667.5):c.6261C>T (p.T2087=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000806622"	"0"	"50"	"15"	"28460867"	"28460867"	"subst"	"4.08027E-5"	"01943"	"HERC2_000141"	"g.28460867G>A"	""	""	""	"HERC2(NM_004667.5):c.6110C>T (p.P2037L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000806623"	"0"	"30"	"15"	"28467230"	"28467230"	"subst"	"0"	"01943"	"HERC2_000142"	"g.28467230T>C"	""	""	""	"HERC2(NM_004667.5):c.5596A>G (p.M1866V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000806624"	"0"	"30"	"15"	"28473437"	"28473437"	"subst"	"0.000805127"	"01943"	"HERC2_000143"	"g.28473437G>A"	""	""	""	"HERC2(NM_004667.5):c.5391C>T (p.H1797=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000806625"	"0"	"50"	"15"	"28474400"	"28474400"	"subst"	"0.000150447"	"01943"	"HERC2_000144"	"g.28474400C>G"	""	""	""	"HERC2(NM_004667.5):c.5213G>C (p.W1738S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000806626"	"0"	"50"	"15"	"28478926"	"28478926"	"subst"	"8.13756E-6"	"01943"	"HERC2_000145"	"g.28478926A>G"	""	""	""	"HERC2(NM_004667.5):c.4235T>C (p.I1412T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000853968"	"0"	"30"	"15"	"28467260"	"28467260"	"subst"	"0"	"01943"	"HERC2_000147"	"g.28467260G>A"	""	""	""	"HERC2(NM_004667.5):c.5566C>T (p.L1856F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863779"	"0"	"30"	"15"	"28465644"	"28465644"	"subst"	"0.000317142"	"01943"	"HERC2_000146"	"g.28465644A>T"	""	""	""	"HERC2(NM_004667.5):c.5799T>A (p.A1933=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863780"	"0"	"30"	"15"	"28519499"	"28519499"	"subst"	"0"	"01943"	"HERC2_000148"	"g.28519499C>T"	""	""	""	"HERC2(NM_004667.5):c.738G>A (p.V246=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000863781"	"0"	"30"	"15"	"28525430"	"28525430"	"subst"	"0"	"01943"	"HERC2_000149"	"g.28525430A>G"	""	""	""	"HERC2(NM_004667.5):c.326T>C (p.V109A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000891984"	"0"	"50"	"15"	"28387409"	"28387409"	"subst"	"8.12552E-6"	"02329"	"HERC2_000150"	"g.28387409G>A"	""	""	""	"HERC2(NM_004667.6):c.11675C>T (p.P3892L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000891985"	"0"	"50"	"15"	"28412927"	"28412927"	"subst"	"0.000499529"	"02329"	"HERC2_000151"	"g.28412927G>A"	""	""	""	"HERC2(NM_004667.6):c.10460C>T (p.S3487L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000914269"	"0"	"50"	"15"	"28419606"	"28419606"	"subst"	"0.000285607"	"02325"	"HERC2_000017"	"g.28419606G>A"	""	""	""	"HERC2(NM_004667.5):c.9992C>T (p.T3331M), HERC2(NM_004667.6):c.9992C>T (p.(Thr3331Met), p.T3331M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000914270"	"0"	"50"	"15"	"28474400"	"28474400"	"subst"	"0.000150447"	"02327"	"HERC2_000144"	"g.28474400C>G"	""	""	""	"HERC2(NM_004667.5):c.5213G>C (p.W1738S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000925945"	"0"	"50"	"15"	"28412927"	"28412927"	"subst"	"0.000499529"	"02325"	"HERC2_000151"	"g.28412927G>A"	""	""	""	"HERC2(NM_004667.6):c.10460C>T (p.S3487L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000925946"	"0"	"50"	"15"	"28459392"	"28459392"	"subst"	"0"	"02325"	"HERC2_000152"	"g.28459392G>A"	""	""	""	"HERC2(NM_004667.6):c.6385C>T (p.R2129C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000930366"	"0"	"50"	"15"	"28391460"	"28391460"	"subst"	"1.21859E-5"	"02325"	"HERC2_000153"	"g.28391460C>T"	""	""	""	"HERC2(NM_004667.6):c.10931G>A (p.R3644Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000950321"	"0"	"30"	"15"	"28517432"	"28517432"	"subst"	"0"	"02325"	"HERC2_000154"	"g.28517432A>C"	""	""	""	"HERC2(NM_004667.6):c.1012T>G (p.L338V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000967688"	"0"	"30"	"15"	"28518116"	"28518116"	"del"	"0"	"02329"	"HERC2_000159"	"g.28518116del"	""	""	""	"HERC2(NM_004667.6):c.836delG (p.G279Efs*25)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981129"	"0"	"50"	"15"	"28356943"	"28356943"	"subst"	"0"	"02325"	"HERC2_000162"	"g.28356943G>A"	""	""	""	"HERC2(NM_004667.6):c.14471C>T (p.S4824L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981130"	"0"	"50"	"15"	"28359787"	"28359787"	"subst"	"4.47042E-5"	"01804"	"HERC2_000163"	"g.28359787C>T"	""	""	""	"HERC2(NM_004667.6):c.13884G>A (p.(Ala4628=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981131"	"0"	"50"	"15"	"28377974"	"28377974"	"subst"	"5.10449E-5"	"01804"	"HERC2_000164"	"g.28377974G>A"	""	""	""	"HERC2(NM_004667.6):c.12233C>T (p.(Pro4078Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981132"	"0"	"70"	"15"	"28386667"	"28386667"	"subst"	"1.21819E-5"	"01804"	"HERC2_000165"	"g.28386667G>A"	""	""	""	"HERC2(NM_004667.6):c.11926C>T (p.(Pro3976Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000981133"	"0"	"30"	"15"	"28389056"	"28389056"	"subst"	"0.000304566"	"01804"	"HERC2_000166"	"g.28389056C>T"	""	""	""	"HERC2(NM_004667.6):c.11381G>A (p.(Arg3794Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981134"	"0"	"30"	"15"	"28412955"	"28412955"	"subst"	"0.0001794"	"01804"	"HERC2_000122"	"g.28412955C>T"	""	""	""	"HERC2(NM_004667.5):c.10432G>A (p.(Ala3478Thr)), HERC2(NM_004667.6):c.10432G>A (p.A3478T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981135"	"0"	"70"	"15"	"28419577"	"28419577"	"subst"	"0"	"01804"	"HERC2_000040"	"g.28419577G>A"	""	""	""	"HERC2(NM_004667.5):c.10021C>T (p.Q3341*), HERC2(NM_004667.6):c.10021C>T (p.(Gln3341Ter))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely pathogenic"	""
"0000981136"	"0"	"30"	"15"	"28447639"	"28447639"	"subst"	"0"	"01804"	"HERC2_000167"	"g.28447639G>C"	""	""	""	"HERC2(NM_004667.6):c.7334C>G (p.(Pro2445Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000981137"	"0"	"50"	"15"	"28492019"	"28492019"	"subst"	"0"	"01804"	"HERC2_000168"	"g.28492019G>T"	""	""	""	"HERC2(NM_004667.6):c.3260C>A (p.(Ser1087Tyr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981138"	"0"	"50"	"15"	"28514437"	"28514437"	"subst"	"8.13154E-6"	"01804"	"HERC2_000169"	"g.28514437C>T"	""	""	""	"HERC2(NM_004667.6):c.1403G>A (p.(Arg468His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981139"	"0"	"50"	"15"	"28538063"	"28538063"	"subst"	"0"	"02325"	"HERC2_000101"	"g.28538063A>G"	""	""	""	"HERC2(NM_004667.5):c.293T>C (p.L98P), HERC2(NM_004667.6):c.293T>C (p.(Leu98Pro), p.L98P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000981140"	"0"	"50"	"15"	"28538123"	"28538123"	"subst"	"0"	"01804"	"HERC2_000170"	"g.28538123T>C"	""	""	""	"HERC2(NM_004667.6):c.233A>G (p.(Asp78Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001001262"	"0"	"50"	"15"	"28412955"	"28412955"	"subst"	"0.0001794"	"02327"	"HERC2_000122"	"g.28412955C>T"	""	""	""	"HERC2(NM_004667.5):c.10432G>A (p.(Ala3478Thr)), HERC2(NM_004667.6):c.10432G>A (p.A3478T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001001263"	"0"	"50"	"15"	"28465789"	"28465789"	"subst"	"0"	"01804"	"HERC2_000171"	"g.28465789T>C"	""	""	""	"HERC2(NM_004667.5):c.5654A>G (p.(Asp1885Gly))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001001264"	"0"	"50"	"15"	"28475599"	"28475599"	"subst"	"4.37503E-6"	"01804"	"HERC2_000172"	"g.28475599C>T"	""	""	""	"HERC2(NM_004667.5):c.4723G>A (p.(Glu1575Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001001265"	"0"	"50"	"15"	"28501123"	"28501123"	"subst"	"0.000229214"	"01804"	"HERC2_000173"	"g.28501123G>C"	""	""	""	"HERC2(NM_004667.5):c.2766C>G (p.(Asn922Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040239"	"0"	"30"	"15"	"28362149"	"28362149"	"subst"	"0.000199347"	"01804"	"HERC2_000132"	"g.28362149A>C"	""	""	""	"HERC2(NM_004667.5):c.13414+10T>G, HERC2(NM_004667.6):c.13414+10T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001040240"	"0"	"50"	"15"	"28375706"	"28375706"	"subst"	"8.12117E-6"	"01804"	"HERC2_000174"	"g.28375706A>G"	""	""	""	"HERC2(NM_004667.6):c.12605T>C (p.(Val4202Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040241"	"0"	"50"	"15"	"28377789"	"28377789"	"subst"	"6.07356E-6"	"01804"	"HERC2_000175"	"g.28377789G>A"	""	""	""	"HERC2(NM_004667.6):c.12408+10C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040242"	"0"	"50"	"15"	"28419606"	"28419606"	"subst"	"0.000285607"	"01804"	"HERC2_000017"	"g.28419606G>A"	""	""	""	"HERC2(NM_004667.5):c.9992C>T (p.T3331M), HERC2(NM_004667.6):c.9992C>T (p.(Thr3331Met), p.T3331M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040243"	"0"	"30"	"15"	"28419695"	"28419695"	"subst"	"0"	"01804"	"HERC2_000176"	"g.28419695T>C"	""	""	""	"HERC2(NM_004667.6):c.9903A>G (p.(Thr3301=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001040244"	"0"	"50"	"15"	"28419775"	"28419775"	"subst"	"0.000115997"	"01804"	"HERC2_000177"	"g.28419775G>A"	""	""	""	"HERC2(NM_004667.6):c.9832-9C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040245"	"0"	"30"	"15"	"28422144"	"28422144"	"subst"	"0.00106476"	"01804"	"HERC2_000178"	"g.28422144G>A"	""	""	""	"HERC2(NM_004667.6):c.9384C>T (p.(Tyr3128=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001040246"	"0"	"30"	"15"	"28424375"	"28424375"	"subst"	"0"	"01804"	"HERC2_000179"	"g.28424375A>G"	""	""	""	"HERC2(NM_004667.6):c.8938-6T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001040247"	"0"	"50"	"15"	"28446681"	"28446681"	"subst"	"0.000113703"	"01804"	"HERC2_000180"	"g.28446681G>A"	""	""	""	"HERC2(NM_004667.6):c.7637C>T (p.(Thr2546Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040248"	"0"	"30"	"15"	"28447404"	"28447404"	"subst"	"0"	"01804"	"HERC2_000181"	"g.28447404G>C"	""	""	""	"HERC2(NM_004667.6):c.7481-9C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001040249"	"0"	"50"	"15"	"28457699"	"28457699"	"subst"	"0"	"01804"	"HERC2_000072"	"g.28457699G>C"	""	""	""	"HERC2(NM_004667.6):c.6817C>G (p.(Leu2273Val), p.L2273V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040250"	"0"	"30"	"15"	"28478342"	"28478342"	"subst"	"0"	"01804"	"HERC2_000131"	"g.28478342C>T"	""	""	""	"HERC2(NM_004667.6):c.4625G>A (p.(Arg1542His))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001040251"	"0"	"50"	"15"	"28479289"	"28479289"	"subst"	"7.74713E-5"	"01804"	"HERC2_000182"	"g.28479289C>T"	""	""	""	"HERC2(NM_004667.6):c.4145G>A (p.(Arg1382Gln))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040252"	"0"	"30"	"15"	"28502335"	"28502335"	"subst"	"0.00281996"	"01804"	"HERC2_000035"	"g.28502335T>C"	""	""	""	"HERC2(NM_004667.5):c.2389A>G (p.M797V), HERC2(NM_004667.6):c.2389A>G (p.(Met797Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001040253"	"0"	"50"	"15"	"28502342"	"28502342"	"subst"	"0"	"01804"	"HERC2_000183"	"g.28502342G>A"	""	""	""	"HERC2(NM_004667.6):c.2382C>T (p.(Ile794=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040254"	"0"	"30"	"15"	"28502342"	"28502345"	"delins"	"0"	"01804"	"HERC2_000184"	"g.28502342_28502345delinsAATA"	""	""	""	"HERC2(NM_004667.6):c.2379_2382delinsTATT (p.(Asp793=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001040255"	"0"	"50"	"15"	"28538063"	"28538063"	"subst"	"0"	"01804"	"HERC2_000101"	"g.28538063A>G"	""	""	""	"HERC2(NM_004667.5):c.293T>C (p.L98P), HERC2(NM_004667.6):c.293T>C (p.(Leu98Pro), p.L98P)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001040256"	"0"	"30"	"15"	"28566610"	"28566610"	"subst"	"0"	"01804"	"HERC2_000185"	"g.28566610C>T"	""	""	""	"HERC2(NM_004667.6):c.-31G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001049748"	"3"	"50"	"15"	"28375310"	"28375310"	"subst"	"0.00177689"	"00006"	"HERC2_000007"	"g.28375310A>T"	""	"{PMID:Charng 2016:27435318}"	""	""	"ACMG PM2, PP3"	"Germline"	""	""	"0"	""	""	"g.28130164A>T"	""	"VUS"	""
"0001055014"	"0"	"50"	"15"	"28359804"	"28359804"	"subst"	"8.12387E-6"	"01804"	"HERC2_000186"	"g.28359804T>C"	""	""	""	"HERC2(NM_004667.6):c.13867A>G (p.(Thr4623Ala))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001055015"	"0"	"30"	"15"	"28366484"	"28366484"	"subst"	"2.4374E-5"	"01804"	"HERC2_000187"	"g.28366484T>C"	""	""	""	"HERC2(NM_004667.6):c.13272+8A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001055016"	"0"	"30"	"15"	"28370143"	"28370143"	"subst"	"4.09678E-6"	"01804"	"HERC2_000188"	"g.28370143C>G"	""	""	""	"HERC2(NM_004667.6):c.12990+9G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001055017"	"0"	"50"	"15"	"28375414"	"28375414"	"subst"	"0.000365527"	"01804"	"HERC2_000189"	"g.28375414A>T"	""	""	""	"HERC2(NM_004667.6):c.12697T>A (p.(Ser4233Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001055018"	"0"	"30"	"15"	"28389384"	"28389384"	"subst"	"4.11889E-6"	"01804"	"HERC2_000190"	"g.28389384G>A"	""	""	""	"HERC2(NM_004667.6):c.11141-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001055019"	"0"	"30"	"15"	"28424372"	"28424372"	"subst"	"0"	"01804"	"HERC2_000191"	"g.28424372A>G"	""	""	""	"HERC2(NM_004667.6):c.8938-3T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001055020"	"0"	"30"	"15"	"28456264"	"28456264"	"subst"	"0"	"01804"	"HERC2_000192"	"g.28456264C>A"	""	""	""	"HERC2(NM_004667.6):c.6953G>T (p.(Cys2318Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001055021"	"0"	"50"	"15"	"28467238"	"28467238"	"subst"	"0"	"01804"	"HERC2_000193"	"g.28467238A>G"	""	""	""	"HERC2(NM_004667.6):c.5588T>C (p.(Leu1863Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001055022"	"0"	"30"	"15"	"28473513"	"28473513"	"subst"	"1.62678E-5"	"01804"	"HERC2_000194"	"g.28473513G>A"	""	""	""	"HERC2(NM_004667.6):c.5315C>T (p.(Pro1772Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001055023"	"0"	"50"	"15"	"28483349"	"28483349"	"subst"	"0"	"01804"	"HERC2_000195"	"g.28483349C>T"	""	""	""	"HERC2(NM_004667.6):c.3763G>A (p.(Glu1255Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001055024"	"0"	"30"	"15"	"28520043"	"28520043"	"subst"	"0.000398829"	"01804"	"HERC2_000196"	"g.28520043G>A"	""	""	""	"HERC2(NM_004667.6):c.643+8C>T"	"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 HERC2
## Count = 231
"{{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}}"
"0000116017"	"00009266"	"90"	"0"	"0"	"0"	"0"	"c.8826-1802_*726{0}"	"r.?"	"p.?"	"56i_93_"
"0000119726"	"00009266"	"70"	"13272"	"874"	"13272"	"874"	"c.13272+874T>C"	"r.(=)"	"p.(=)"	"86i"
"0000119727"	"00009266"	"50"	"14555"	"0"	"14555"	"0"	"c.*50G>A"	"r.(=)"	"p.(=)"	"93"
"0000119728"	"00009266"	"50"	"14555"	"0"	"14555"	"0"	"c.*50G>A"	"r.(=)"	"p.(=)"	"93"
"0000119729"	"00009266"	"70"	"13272"	"874"	"13272"	"874"	"c.13272+874T>C"	"r.(=)"	"p.(=)"	"86i"
"0000130249"	"00009266"	"70"	"4676"	"-1"	"4676"	"-1"	"c.4676-1G>A"	"r.spl?"	"p.?"	""
"0000252627"	"00009266"	"90"	"10057"	"2"	"10057"	"2"	"c.10057+2T>A"	"r.spl?"	"p.?"	""
"0000253516"	"00009266"	"10"	"9948"	"0"	"9948"	"0"	"c.9948T>C"	"r.(?)"	"p.(Cys3316=)"	""
"0000253522"	"00009266"	"10"	"12801"	"0"	"12801"	"0"	"c.12801T>A"	"r.(?)"	"p.(Asp4267Glu)"	""
"0000253655"	"00009266"	"10"	"3903"	"0"	"3903"	"0"	"c.3903T>A"	"r.(?)"	"p.(Pro1301=)"	""
"0000253689"	"00009266"	"10"	"7411"	"0"	"7411"	"0"	"c.7411T>C"	"r.(?)"	"p.(Ser2471Pro)"	""
"0000281275"	"00009266"	"50"	"1015"	"0"	"1015"	"0"	"c.1015C>T"	"r.(?)"	"p.(Pro339Ser)"	""
"0000281276"	"00009266"	"50"	"10817"	"0"	"10817"	"0"	"c.10817G>A"	"r.(?)"	"p.(Arg3606His)"	""
"0000281277"	"00009266"	"50"	"12328"	"0"	"12328"	"0"	"c.12328G>A"	"r.(?)"	"p.(Gly4110Arg)"	""
"0000281278"	"00009266"	"50"	"4651"	"0"	"4651"	"0"	"c.4651A>C"	"r.(?)"	"p.(Ile1551Leu)"	""
"0000281279"	"00009266"	"50"	"7729"	"0"	"7729"	"0"	"c.7729G>A"	"r.(?)"	"p.(Val2577Ile)"	""
"0000281280"	"00009266"	"30"	"9027"	"0"	"9027"	"0"	"c.9027G>C"	"r.(?)"	"p.(Val3009=)"	""
"0000289018"	"00009266"	"10"	"10011"	"0"	"10011"	"0"	"c.10011C>T"	"r.(?)"	"p.(Pro3337=)"	""
"0000289019"	"00009266"	"10"	"1083"	"0"	"1083"	"0"	"c.1083C>T"	"r.(?)"	"p.(His361=)"	""
"0000289020"	"00009266"	"30"	"11728"	"0"	"11728"	"0"	"c.11728G>C"	"r.(?)"	"p.(Ala3910Pro)"	""
"0000289021"	"00009266"	"50"	"12430"	"0"	"12430"	"0"	"c.12430C>T"	"r.(?)"	"p.(Arg4144Cys)"	""
"0000289022"	"00009266"	"30"	"12612"	"0"	"12612"	"0"	"c.12612C>T"	"r.(?)"	"p.(Cys4204=)"	""
"0000289023"	"00009266"	"30"	"13314"	"0"	"13314"	"0"	"c.13314C>T"	"r.(?)"	"p.(Asp4438=)"	""
"0000289024"	"00009266"	"10"	"13638"	"0"	"13638"	"0"	"c.13638C>T"	"r.(?)"	"p.(Thr4546=)"	""
"0000289025"	"00009266"	"10"	"14118"	"0"	"14118"	"0"	"c.14118G>A"	"r.(?)"	"p.(Glu4706=)"	""
"0000289026"	"00009266"	"30"	"1794"	"0"	"1794"	"0"	"c.1794C>T"	"r.(?)"	"p.(Ala598=)"	""
"0000289027"	"00009266"	"10"	"2389"	"0"	"2389"	"0"	"c.2389A>G"	"r.(?)"	"p.(Met797Val)"	""
"0000289028"	"00009266"	"10"	"4009"	"0"	"4009"	"0"	"c.4009C>T"	"r.(?)"	"p.(Leu1337Phe)"	""
"0000289029"	"00009266"	"50"	"4651"	"0"	"4651"	"0"	"c.4651A>C"	"r.(?)"	"p.(Ile1551Leu)"	""
"0000289030"	"00009266"	"10"	"5577"	"0"	"5577"	"0"	"c.5577A>T"	"r.(?)"	"p.(Ser1859=)"	""
"0000289031"	"00009266"	"30"	"7386"	"0"	"7386"	"0"	"c.7386G>A"	"r.(?)"	"p.(Val2462=)"	""
"0000289032"	"00009266"	"30"	"7467"	"0"	"7467"	"0"	"c.7467A>G"	"r.(?)"	"p.(Ala2489=)"	""
"0000289033"	"00009266"	"30"	"7704"	"0"	"7704"	"0"	"c.7704A>G"	"r.(?)"	"p.(Arg2568=)"	""
"0000289034"	"00009266"	"50"	"7729"	"0"	"7729"	"0"	"c.7729G>A"	"r.(?)"	"p.(Val2577Ile)"	""
"0000289035"	"00009266"	"50"	"8179"	"0"	"8179"	"0"	"c.8179G>C"	"r.(?)"	"p.(Asp2727His)"	""
"0000289036"	"00009266"	"30"	"9358"	"0"	"9358"	"0"	"c.9358C>T"	"r.(?)"	"p.(Leu3120=)"	""
"0000289037"	"00009266"	"30"	"9726"	"0"	"9726"	"0"	"c.9726C>T"	"r.(?)"	"p.(Asp3242=)"	""
"0000289038"	"00009266"	"10"	"9852"	"0"	"9852"	"0"	"c.9852C>T"	"r.(?)"	"p.(Asn3284=)"	""
"0000289039"	"00009266"	"50"	"9992"	"0"	"9992"	"0"	"c.9992C>T"	"r.(?)"	"p.(Thr3331Met)"	""
"0000289040"	"00009266"	"10"	"9994"	"0"	"9994"	"0"	"c.9994C>T"	"r.(?)"	"p.(Pro3332Ser)"	""
"0000342550"	"00009266"	"50"	"8741"	"0"	"8741"	"0"	"c.8741G>A"	"r.(?)"	"p.(Arg2914His)"	""
"0000344771"	"00009266"	"70"	"10021"	"0"	"10021"	"0"	"c.10021C>T"	"r.(?)"	"p.(Gln3341Ter)"	""
"0000346025"	"00009266"	"50"	"10813"	"0"	"10813"	"0"	"c.10813G>A"	"r.(?)"	"p.(Gly3605Ser)"	""
"0000499599"	"00009266"	"95"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.1781c>u"	"p.Pro594Leu"	"14"
"0000553760"	"00009266"	"50"	"14224"	"0"	"14224"	"0"	"c.14224G>A"	"r.(?)"	"p.(Val4742Ile)"	""
"0000553761"	"00009266"	"30"	"13919"	"0"	"13919"	"0"	"c.13919A>G"	"r.(?)"	"p.(His4640Arg)"	""
"0000553762"	"00009266"	"50"	"13785"	"0"	"13785"	"0"	"c.13785G>T"	"r.(?)"	"p.(Glu4595Asp)"	""
"0000553763"	"00009266"	"30"	"13485"	"0"	"13485"	"0"	"c.13485C>T"	"r.(?)"	"p.(Asn4495=)"	""
"0000553764"	"00009266"	"50"	"13193"	"0"	"13193"	"0"	"c.13193C>T"	"r.(?)"	"p.(Ala4398Val)"	""
"0000553765"	"00009266"	"30"	"13134"	"0"	"13134"	"0"	"c.13134C>T"	"r.(?)"	"p.(Leu4378=)"	""
"0000553766"	"00009266"	"30"	"12991"	"-6"	"12991"	"-6"	"c.12991-6T>C"	"r.(=)"	"p.(=)"	""
"0000553767"	"00009266"	"30"	"12843"	"0"	"12843"	"0"	"c.12843G>A"	"r.(?)"	"p.(Leu4281=)"	""
"0000553768"	"00009266"	"30"	"11586"	"0"	"11586"	"0"	"c.11586G>A"	"r.(?)"	"p.(Leu3862=)"	""
"0000553769"	"00009266"	"30"	"11427"	"0"	"11427"	"0"	"c.11427A>G"	"r.(?)"	"p.(Thr3809=)"	""
"0000553770"	"00009266"	"50"	"11398"	"0"	"11398"	"0"	"c.11398G>C"	"r.(?)"	"p.(Asp3800His)"	""
"0000553771"	"00009266"	"50"	"11128"	"0"	"11128"	"0"	"c.11128A>C"	"r.(?)"	"p.(Met3710Leu)"	""
"0000553774"	"00009266"	"30"	"10710"	"0"	"10710"	"0"	"c.10710C>T"	"r.(?)"	"p.(Ser3570=)"	""
"0000553777"	"00009266"	"50"	"10075"	"0"	"10075"	"0"	"c.10075G>T"	"r.(?)"	"p.(Asp3359Tyr)"	""
"0000553778"	"00009266"	"70"	"10021"	"0"	"10021"	"0"	"c.10021C>T"	"r.(?)"	"p.(Gln3341Ter)"	""
"0000553779"	"00009266"	"90"	"10021"	"0"	"10021"	"0"	"c.10021C>T"	"r.(?)"	"p.(Gln3341Ter)"	""
"0000553780"	"00009266"	"30"	"9979"	"0"	"9979"	"0"	"c.9979G>A"	"r.(?)"	"p.(Val3327Met)"	""
"0000553781"	"00009266"	"50"	"9968"	"0"	"9968"	"0"	"c.9968C>T"	"r.(?)"	"p.(Ala3323Val)"	""
"0000553783"	"00009266"	"30"	"9447"	"0"	"9447"	"0"	"c.9447C>T"	"r.(?)"	"p.(Leu3149=)"	""
"0000553784"	"00009266"	"50"	"9248"	"0"	"9248"	"0"	"c.9248G>A"	"r.(?)"	"p.(Ser3083Asn)"	""
"0000553785"	"00009266"	"30"	"8741"	"0"	"8741"	"0"	"c.8741G>A"	"r.(?)"	"p.(Arg2914His)"	""
"0000553786"	"00009266"	"30"	"7471"	"0"	"7471"	"0"	"c.7471A>G"	"r.(?)"	"p.(Ser2491Gly)"	""
"0000553788"	"00009266"	"30"	"7233"	"0"	"7233"	"0"	"c.7233C>T"	"r.(?)"	"p.(Cys2411=)"	""
"0000553789"	"00009266"	"30"	"7228"	"0"	"7228"	"0"	"c.7228G>A"	"r.(?)"	"p.(Val2410Ile)"	""
"0000553791"	"00009266"	"30"	"7058"	"0"	"7058"	"0"	"c.7058C>G"	"r.(?)"	"p.(Thr2353Ser)"	""
"0000553793"	"00009266"	"30"	"6732"	"0"	"6732"	"0"	"c.6732G>T"	"r.(?)"	"p.(Val2244=)"	""
"0000553794"	"00009266"	"30"	"6615"	"0"	"6615"	"0"	"c.6615A>G"	"r.(?)"	"p.(Ala2205=)"	""
"0000553795"	"00009266"	"30"	"6555"	"3"	"6555"	"3"	"c.6555+3G>A"	"r.spl?"	"p.?"	""
"0000553796"	"00009266"	"30"	"6550"	"0"	"6550"	"0"	"c.6550G>A"	"r.(?)"	"p.(Glu2184Lys)"	""
"0000553797"	"00009266"	"50"	"6077"	"0"	"6077"	"0"	"c.6077C>T"	"r.(?)"	"p.(Thr2026Met)"	""
"0000553798"	"00009266"	"30"	"5926"	"0"	"5926"	"0"	"c.5926C>T"	"r.(?)"	"p.(Leu1976=)"	""
"0000553799"	"00009266"	"50"	"5825"	"0"	"5825"	"0"	"c.5825C>T"	"r.(?)"	"p.(Ser1942Leu)"	""
"0000553801"	"00009266"	"30"	"5442"	"0"	"5442"	"0"	"c.5442G>T"	"r.(?)"	"p.(Thr1814=)"	""
"0000553802"	"00009266"	"30"	"5440"	"0"	"5440"	"0"	"c.5440A>G"	"r.(?)"	"p.(Thr1814Ala)"	""
"0000553803"	"00009266"	"30"	"5429"	"0"	"5429"	"0"	"c.5429T>C"	"r.(?)"	"p.(Met1810Thr)"	""
"0000553804"	"00009266"	"50"	"5057"	"0"	"5057"	"0"	"c.5057C>T"	"r.(?)"	"p.(Pro1686Leu)"	""
"0000553805"	"00009266"	"30"	"5040"	"0"	"5040"	"0"	"c.5040C>G"	"r.(?)"	"p.(Ser1680Arg)"	""
"0000553806"	"00009266"	"30"	"4809"	"3"	"4809"	"3"	"c.4809+3G>C"	"r.spl?"	"p.?"	""
"0000553807"	"00009266"	"50"	"4309"	"0"	"4309"	"0"	"c.4309G>C"	"r.(?)"	"p.(Gly1437Arg)"	""
"0000553808"	"00009266"	"70"	"4126"	"0"	"4126"	"0"	"c.4126C>T"	"r.(?)"	"p.(Arg1376Ter)"	""
"0000553811"	"00009266"	"30"	"3140"	"0"	"3140"	"0"	"c.3140G>A"	"r.(?)"	"p.(Arg1047Lys)"	""
"0000553812"	"00009266"	"10"	"2448"	"0"	"2448"	"0"	"c.2448C>T"	"r.(?)"	"p.(Ser816=)"	""
"0000553813"	"00009266"	"30"	"2317"	"-3"	"2317"	"-3"	"c.2317-3T>C"	"r.spl?"	"p.?"	""
"0000553814"	"00009266"	"50"	"2030"	"0"	"2030"	"0"	"c.2030A>G"	"r.(?)"	"p.(Gln677Arg)"	""
"0000553815"	"00009266"	"30"	"1731"	"0"	"1731"	"0"	"c.1731C>T"	"r.(?)"	"p.(Arg577=)"	""
"0000553816"	"00009266"	"50"	"1150"	"0"	"1150"	"0"	"c.1150G>A"	"r.(?)"	"p.(Glu384Lys)"	""
"0000553817"	"00009266"	"30"	"1015"	"0"	"1015"	"0"	"c.1015C>T"	"r.(?)"	"p.(Pro339Ser)"	""
"0000553819"	"00009266"	"30"	"905"	"0"	"905"	"0"	"c.905C>T"	"r.(?)"	"p.(Thr302Met)"	""
"0000553824"	"00009266"	"30"	"643"	"5"	"643"	"5"	"c.643+5G>A"	"r.spl?"	"p.?"	""
"0000553826"	"00009266"	"50"	"293"	"0"	"293"	"0"	"c.293T>C"	"r.(?)"	"p.(Leu98Pro)"	""
"0000553827"	"00009266"	"30"	"187"	"7"	"187"	"7"	"c.187+7G>A"	"r.(=)"	"p.(=)"	""
"0000598771"	"00009266"	"10"	"13272"	"874"	"13272"	"874"	"c.13272+874T>C"	"r.(?)"	"p.="	"86i"
"0000598772"	"00009266"	"10"	"13272"	"874"	"13272"	"874"	"c.13272+874T>C"	"r.(?)"	"p.="	"86i"
"0000615204"	"00009266"	"50"	"12380"	"0"	"12380"	"0"	"c.12380A>G"	"r.(?)"	"p.(Asp4127Gly)"	""
"0000615205"	"00009266"	"30"	"12018"	"0"	"12018"	"0"	"c.12018G>A"	"r.(?)"	"p.(Leu4006=)"	""
"0000615206"	"00009266"	"30"	"9687"	"-8"	"9687"	"-8"	"c.9687-8T>C"	"r.(=)"	"p.(=)"	""
"0000615207"	"00009266"	"50"	"9110"	"0"	"9110"	"0"	"c.9110G>A"	"r.(?)"	"p.(Arg3037Gln)"	""
"0000615208"	"00009266"	"10"	"7554"	"0"	"7554"	"0"	"c.7554G>A"	"r.(?)"	"p.(Thr2518=)"	""
"0000615209"	"00009266"	"30"	"6536"	"0"	"6536"	"0"	"c.6536T>C"	"r.(?)"	"p.(Val2179Ala)"	""
"0000615210"	"00009266"	"30"	"6195"	"0"	"6195"	"0"	"c.6195C>T"	"r.(?)"	"p.(Thr2065=)"	""
"0000615211"	"00009266"	"30"	"4605"	"0"	"4605"	"0"	"c.4605A>G"	"r.(?)"	"p.(Lys1535=)"	""
"0000623198"	"00009266"	"30"	"10969"	"0"	"10969"	"0"	"c.10969G>A"	"r.(?)"	"p.(Val3657Ile)"	""
"0000623199"	"00009266"	"50"	"7228"	"0"	"7228"	"0"	"c.7228G>A"	"r.(?)"	"p.(Val2410Ile)"	""
"0000623200"	"00009266"	"30"	"6123"	"0"	"6123"	"0"	"c.6123C>T"	"r.(?)"	"p.(Gly2041=)"	""
"0000649024"	"00009266"	"50"	"10474"	"0"	"10474"	"0"	"c.10474T>C"	"r.(?)"	"p.(Ser3492Pro)"	""
"0000657543"	"00009266"	"50"	"7261"	"0"	"7261"	"0"	"c.7261C>T"	"r.(?)"	"p.(Pro2421Ser)"	""
"0000657544"	"00009266"	"50"	"4892"	"0"	"4892"	"0"	"c.4892C>T"	"r.(?)"	"p.(Pro1631Leu)"	""
"0000660325"	"00009266"	"50"	"6448"	"0"	"6448"	"0"	"c.6448C>G"	"r.(?)"	"p.(Leu2150Val)"	""
"0000660358"	"00009266"	"50"	"9979"	"0"	"9979"	"0"	"c.9979G>A"	"r.(?)"	"p.(Val3327Met)"	""
"0000673644"	"00009266"	"50"	"10969"	"0"	"10969"	"0"	"c.10969G>A"	"r.(?)"	"p.(Val3657Ile)"	""
"0000680128"	"00009266"	"50"	"14041"	"0"	"14041"	"0"	"c.14041C>T"	"r.(?)"	"p.(Pro4681Ser)"	""
"0000680129"	"00009266"	"30"	"12867"	"0"	"12867"	"0"	"c.12867C>T"	"r.(?)"	"p.(Ile4289=)"	""
"0000680130"	"00009266"	"50"	"11294"	"0"	"11294"	"0"	"c.11294C>G"	"r.(?)"	"p.(Ala3765Gly)"	""
"0000680131"	"00009266"	"50"	"10712"	"0"	"10712"	"0"	"c.10712C>T"	"r.(?)"	"p.(Ala3571Val)"	""
"0000680132"	"00009266"	"50"	"10432"	"0"	"10432"	"0"	"c.10432G>A"	"r.(?)"	"p.(Ala3478Thr)"	""
"0000680133"	"00009266"	"50"	"10075"	"0"	"10075"	"0"	"c.10075G>T"	"r.(?)"	"p.(Asp3359Tyr)"	""
"0000680134"	"00009266"	"30"	"5809"	"0"	"5809"	"0"	"c.5809C>T"	"r.(?)"	"p.(Pro1937Ser)"	""
"0000680135"	"00009266"	"50"	"4742"	"0"	"4744"	"0"	"c.4742_4744del"	"r.(?)"	"p.(Glu1581del)"	""
"0000680136"	"00009266"	"50"	"2747"	"-3"	"2747"	"-3"	"c.2747-3C>A"	"r.spl?"	"p.?"	""
"0000680137"	"00009266"	"50"	"547"	"0"	"547"	"0"	"c.547C>T"	"r.(?)"	"p.(Arg183Trp)"	""
"0000725016"	"00009266"	"50"	"13609"	"0"	"13609"	"0"	"c.13609G>A"	"r.(?)"	"p.(Gly4537Ser)"	""
"0000725017"	"00009266"	"50"	"10993"	"0"	"10993"	"0"	"c.10993G>A"	"r.(?)"	"p.(Val3665Ile)"	""
"0000725018"	"00009266"	"50"	"10978"	"0"	"10978"	"0"	"c.10978G>A"	"r.(?)"	"p.(Gly3660Ser)"	""
"0000725019"	"00009266"	"30"	"10530"	"0"	"10530"	"0"	"c.10530A>G"	"r.(?)"	"p.(Ala3510=)"	""
"0000725020"	"00009266"	"50"	"6817"	"0"	"6817"	"0"	"c.6817C>G"	"r.(?)"	"p.(Leu2273Val)"	""
"0000725021"	"00009266"	"50"	"3705"	"0"	"3705"	"0"	"c.3705A>G"	"r.(?)"	"p.(Ile1235Met)"	""
"0000725022"	"00009266"	"50"	"293"	"0"	"293"	"0"	"c.293T>C"	"r.(?)"	"p.(Leu98Pro)"	""
"0000785702"	"00009266"	"90"	"13767"	"0"	"13770"	"0"	"c.13767_13770del"	"r.(?)"	"p.(Asn4589LysfsTer10)"	""
"0000785703"	"00009266"	"90"	"13767"	"0"	"13770"	"0"	"c.13767_13770del"	"r.(?)"	"p.(Asn4589LysfsTer10)"	""
"0000785704"	"00009266"	"90"	"13767"	"0"	"13770"	"0"	"c.13767_13770del"	"r.(?)"	"p.(Asn4589LysfsTer10)"	""
"0000785705"	"00009266"	"90"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.(?)"	"p.(Pro594Leu)"	""
"0000785706"	"00009266"	"90"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.(?)"	"p.(Pro594Leu)"	""
"0000785707"	"00009266"	"90"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.(?)"	"p.(Pro594Leu)"	""
"0000785708"	"00009266"	"90"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.(?)"	"p.(Pro594Leu)"	""
"0000785709"	"00009266"	"90"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.(?)"	"p.(Pro594Leu)"	""
"0000785710"	"00009266"	"90"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.(?)"	"p.(Pro594Leu)"	""
"0000785711"	"00009266"	"90"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.(?)"	"p.(Pro594Leu)"	""
"0000785712"	"00009266"	"90"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.(?)"	"p.(Pro594Leu)"	""
"0000785713"	"00009266"	"90"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.(?)"	"p.(Pro594Leu)"	""
"0000785714"	"00009266"	"90"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.(?)"	"p.(Pro594Leu)"	""
"0000785715"	"00009266"	"90"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.(?)"	"p.(Pro594Leu)"	""
"0000785716"	"00009266"	"90"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.(?)"	"p.(Pro594Leu)"	""
"0000785717"	"00009266"	"90"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.(?)"	"p.(Pro594Leu)"	""
"0000785718"	"00009266"	"90"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.(?)"	"p.(Pro594Leu)"	""
"0000785719"	"00009266"	"90"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.(?)"	"p.(Pro594Leu)"	""
"0000785720"	"00009266"	"90"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.(?)"	"p.(Pro594Leu)"	""
"0000785721"	"00009266"	"90"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.(?)"	"p.(Pro594Leu)"	""
"0000785722"	"00009266"	"90"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.(?)"	"p.(Pro594Leu)"	""
"0000785723"	"00009266"	"90"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.(?)"	"p.(Pro594Leu)"	""
"0000785724"	"00009266"	"90"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.(?)"	"p.(Pro594Leu)"	""
"0000785725"	"00009266"	"90"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.(?)"	"p.(Pro594Leu)"	""
"0000785726"	"00009266"	"90"	"1781"	"0"	"1781"	"0"	"c.1781C>T"	"r.(?)"	"p.(Pro594Leu)"	""
"0000785727"	"00009266"	"90"	"4625"	"0"	"4625"	"0"	"c.4625G>A"	"r.(?)"	"p.(Arg1542His)"	""
"0000785728"	"00009266"	"90"	"4625"	"0"	"4625"	"0"	"c.4625G>A"	"r.(?)"	"p.(Arg1542His)"	""
"0000806613"	"00009266"	"30"	"13414"	"10"	"13414"	"10"	"c.13414+10T>G"	"r.(=)"	"p.(=)"	""
"0000806614"	"00009266"	"50"	"13007"	"0"	"13007"	"0"	"c.13007A>G"	"r.(?)"	"p.(Asn4336Ser)"	""
"0000806615"	"00009266"	"30"	"12147"	"0"	"12147"	"0"	"c.12147G>A"	"r.(?)"	"p.(Lys4049=)"	""
"0000806616"	"00009266"	"50"	"10952"	"0"	"10952"	"0"	"c.10952G>A"	"r.(?)"	"p.(Arg3651His)"	""
"0000806617"	"00009266"	"50"	"9059"	"0"	"9059"	"0"	"c.9059C>T"	"r.(?)"	"p.(Thr3020Met)"	""
"0000806618"	"00009266"	"30"	"8329"	"0"	"8329"	"0"	"c.8329A>G"	"r.(?)"	"p.(Met2777Val)"	""
"0000806619"	"00009266"	"30"	"6926"	"-4"	"6926"	"-4"	"c.6926-4G>A"	"r.spl?"	"p.?"	""
"0000806620"	"00009266"	"30"	"6926"	"-5"	"6926"	"-5"	"c.6926-5C>T"	"r.spl?"	"p.?"	""
"0000806621"	"00009266"	"30"	"6261"	"0"	"6261"	"0"	"c.6261C>T"	"r.(?)"	"p.(Thr2087=)"	""
"0000806622"	"00009266"	"50"	"6110"	"0"	"6110"	"0"	"c.6110C>T"	"r.(?)"	"p.(Pro2037Leu)"	""
"0000806623"	"00009266"	"30"	"5596"	"0"	"5596"	"0"	"c.5596A>G"	"r.(?)"	"p.(Met1866Val)"	""
"0000806624"	"00009266"	"30"	"5391"	"0"	"5391"	"0"	"c.5391C>T"	"r.(?)"	"p.(His1797=)"	""
"0000806625"	"00009266"	"50"	"5213"	"0"	"5213"	"0"	"c.5213G>C"	"r.(?)"	"p.(Trp1738Ser)"	""
"0000806626"	"00009266"	"50"	"4235"	"0"	"4235"	"0"	"c.4235T>C"	"r.(?)"	"p.(Ile1412Thr)"	""
"0000853968"	"00009266"	"30"	"5566"	"0"	"5566"	"0"	"c.5566C>T"	"r.(?)"	"p.(Leu1856Phe)"	""
"0000863779"	"00009266"	"30"	"5799"	"0"	"5799"	"0"	"c.5799T>A"	"r.(?)"	"p.(Ala1933=)"	""
"0000863780"	"00009266"	"30"	"738"	"0"	"738"	"0"	"c.738G>A"	"r.(?)"	"p.(Val246=)"	""
"0000863781"	"00009266"	"30"	"326"	"0"	"326"	"0"	"c.326T>C"	"r.(?)"	"p.(Val109Ala)"	""
"0000891984"	"00009266"	"50"	"11675"	"0"	"11675"	"0"	"c.11675C>T"	"r.(?)"	"p.(Pro3892Leu)"	""
"0000891985"	"00009266"	"50"	"10460"	"0"	"10460"	"0"	"c.10460C>T"	"r.(?)"	"p.(Ser3487Leu)"	""
"0000914269"	"00009266"	"50"	"9992"	"0"	"9992"	"0"	"c.9992C>T"	"r.(?)"	"p.(Thr3331Met)"	""
"0000914270"	"00009266"	"50"	"5213"	"0"	"5213"	"0"	"c.5213G>C"	"r.(?)"	"p.(Trp1738Ser)"	""
"0000925945"	"00009266"	"50"	"10460"	"0"	"10460"	"0"	"c.10460C>T"	"r.(?)"	"p.(Ser3487Leu)"	""
"0000925946"	"00009266"	"50"	"6385"	"0"	"6385"	"0"	"c.6385C>T"	"r.(?)"	"p.(Arg2129Cys)"	""
"0000930366"	"00009266"	"50"	"10931"	"0"	"10931"	"0"	"c.10931G>A"	"r.(?)"	"p.(Arg3644Gln)"	""
"0000950321"	"00009266"	"30"	"1012"	"0"	"1012"	"0"	"c.1012T>G"	"r.(?)"	"p.(Leu338Val)"	""
"0000967688"	"00009266"	"30"	"836"	"0"	"836"	"0"	"c.836del"	"r.(?)"	"p.(Gly279Glufs*25)"	""
"0000981129"	"00009266"	"50"	"14471"	"0"	"14471"	"0"	"c.14471C>T"	"r.(?)"	"p.(Ser4824Leu)"	""
"0000981130"	"00009266"	"50"	"13884"	"0"	"13884"	"0"	"c.13884G>A"	"r.(?)"	"p.(=)"	""
"0000981131"	"00009266"	"50"	"12233"	"0"	"12233"	"0"	"c.12233C>T"	"r.(?)"	"p.(Pro4078Leu)"	""
"0000981132"	"00009266"	"70"	"11926"	"0"	"11926"	"0"	"c.11926C>T"	"r.(?)"	"p.(Pro3976Ser)"	""
"0000981133"	"00009266"	"30"	"11381"	"0"	"11381"	"0"	"c.11381G>A"	"r.(?)"	"p.(Arg3794Lys)"	""
"0000981134"	"00009266"	"30"	"10432"	"0"	"10432"	"0"	"c.10432G>A"	"r.(?)"	"p.(Ala3478Thr)"	""
"0000981135"	"00009266"	"70"	"10021"	"0"	"10021"	"0"	"c.10021C>T"	"r.(?)"	"p.(Gln3341Ter)"	""
"0000981136"	"00009266"	"30"	"7334"	"0"	"7334"	"0"	"c.7334C>G"	"r.(?)"	"p.(Pro2445Arg)"	""
"0000981137"	"00009266"	"50"	"3260"	"0"	"3260"	"0"	"c.3260C>A"	"r.(?)"	"p.(Ser1087Tyr)"	""
"0000981138"	"00009266"	"50"	"1403"	"0"	"1403"	"0"	"c.1403G>A"	"r.(?)"	"p.(Arg468His)"	""
"0000981139"	"00009266"	"50"	"293"	"0"	"293"	"0"	"c.293T>C"	"r.(?)"	"p.(Leu98Pro)"	""
"0000981140"	"00009266"	"50"	"233"	"0"	"233"	"0"	"c.233A>G"	"r.(?)"	"p.(Asp78Gly)"	""
"0001001262"	"00009266"	"50"	"10432"	"0"	"10432"	"0"	"c.10432G>A"	"r.(?)"	"p.(Ala3478Thr)"	""
"0001001263"	"00009266"	"50"	"5654"	"0"	"5654"	"0"	"c.5654A>G"	"r.(?)"	"p.(Asp1885Gly)"	""
"0001001264"	"00009266"	"50"	"4723"	"0"	"4723"	"0"	"c.4723G>A"	"r.(?)"	"p.(Glu1575Lys)"	""
"0001001265"	"00009266"	"50"	"2766"	"0"	"2766"	"0"	"c.2766C>G"	"r.(?)"	"p.(Asn922Lys)"	""
"0001040239"	"00009266"	"30"	"13414"	"10"	"13414"	"10"	"c.13414+10T>G"	"r.(=)"	"p.(=)"	""
"0001040240"	"00009266"	"50"	"12605"	"0"	"12605"	"0"	"c.12605T>C"	"r.(?)"	"p.(Val4202Ala)"	""
"0001040241"	"00009266"	"50"	"12408"	"10"	"12408"	"10"	"c.12408+10C>T"	"r.(=)"	"p.(=)"	""
"0001040242"	"00009266"	"50"	"9992"	"0"	"9992"	"0"	"c.9992C>T"	"r.(?)"	"p.(Thr3331Met)"	""
"0001040243"	"00009266"	"30"	"9903"	"0"	"9903"	"0"	"c.9903A>G"	"r.(?)"	"p.(=)"	""
"0001040244"	"00009266"	"50"	"9832"	"-9"	"9832"	"-9"	"c.9832-9C>T"	"r.(=)"	"p.(=)"	""
"0001040245"	"00009266"	"30"	"9384"	"0"	"9384"	"0"	"c.9384C>T"	"r.(?)"	"p.(=)"	""
"0001040246"	"00009266"	"30"	"8938"	"-6"	"8938"	"-6"	"c.8938-6T>C"	"r.(=)"	"p.(=)"	""
"0001040247"	"00009266"	"50"	"7637"	"0"	"7637"	"0"	"c.7637C>T"	"r.(?)"	"p.(Thr2546Met)"	""
"0001040248"	"00009266"	"30"	"7481"	"-9"	"7481"	"-9"	"c.7481-9C>G"	"r.(=)"	"p.(=)"	""
"0001040249"	"00009266"	"50"	"6817"	"0"	"6817"	"0"	"c.6817C>G"	"r.(?)"	"p.(Leu2273Val)"	""
"0001040250"	"00009266"	"30"	"4625"	"0"	"4625"	"0"	"c.4625G>A"	"r.(?)"	"p.(Arg1542His)"	""
"0001040251"	"00009266"	"50"	"4145"	"0"	"4145"	"0"	"c.4145G>A"	"r.(?)"	"p.(Arg1382Gln)"	""
"0001040252"	"00009266"	"30"	"2389"	"0"	"2389"	"0"	"c.2389A>G"	"r.(?)"	"p.(Met797Val)"	""
"0001040253"	"00009266"	"50"	"2382"	"0"	"2382"	"0"	"c.2382C>T"	"r.(?)"	"p.(=)"	""
"0001040254"	"00009266"	"30"	"2379"	"0"	"2382"	"0"	"c.2379_2382delinsTATT"	"r.(?)"	"p.(=)"	""
"0001040255"	"00009266"	"50"	"293"	"0"	"293"	"0"	"c.293T>C"	"r.(?)"	"p.(Leu98Pro)"	""
"0001040256"	"00009266"	"30"	"-31"	"0"	"-31"	"0"	"c.-31G>A"	"r.(?)"	"p.(=)"	""
"0001049748"	"00009266"	"50"	"12801"	"0"	"12801"	"0"	"c.12801T>A"	"r.(?)"	"p.(Asp4267Glu)"	""
"0001055014"	"00009266"	"50"	"13867"	"0"	"13867"	"0"	"c.13867A>G"	"r.(?)"	"p.(Thr4623Ala)"	""
"0001055015"	"00009266"	"30"	"13272"	"8"	"13272"	"8"	"c.13272+8A>G"	"r.(=)"	"p.(=)"	""
"0001055016"	"00009266"	"30"	"12990"	"9"	"12990"	"9"	"c.12990+9G>C"	"r.(=)"	"p.(=)"	""
"0001055017"	"00009266"	"50"	"12697"	"0"	"12697"	"0"	"c.12697T>A"	"r.(?)"	"p.(Ser4233Thr)"	""
"0001055018"	"00009266"	"30"	"11141"	"-3"	"11141"	"-3"	"c.11141-3C>T"	"r.spl?"	"p.?"	""
"0001055019"	"00009266"	"30"	"8938"	"-3"	"8938"	"-3"	"c.8938-3T>C"	"r.spl?"	"p.?"	""
"0001055020"	"00009266"	"30"	"6953"	"0"	"6953"	"0"	"c.6953G>T"	"r.(?)"	"p.(Cys2318Phe)"	""
"0001055021"	"00009266"	"50"	"5588"	"0"	"5588"	"0"	"c.5588T>C"	"r.(?)"	"p.(Leu1863Pro)"	""
"0001055022"	"00009266"	"30"	"5315"	"0"	"5315"	"0"	"c.5315C>T"	"r.(?)"	"p.(Pro1772Leu)"	""
"0001055023"	"00009266"	"50"	"3763"	"0"	"3763"	"0"	"c.3763G>A"	"r.(?)"	"p.(Glu1255Lys)"	""
"0001055024"	"00009266"	"30"	"643"	"8"	"643"	"8"	"c.643+8C>T"	"r.(=)"	"p.(=)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 41
"{{screeningid}}"	"{{variantid}}"
"0000072458"	"0000116017"
"0000074683"	"0000119726"
"0000074683"	"0000119727"
"0000074684"	"0000119728"
"0000074684"	"0000119729"
"0000081163"	"0000130249"
"0000246811"	"0000499599"
"0000267539"	"0000598771"
"0000267540"	"0000598772"
"0000292335"	"0000649024"
"0000297716"	"0000660325"
"0000297716"	"0000660358"
"0000307042"	"0000673644"
"0000374854"	"0000785702"
"0000374855"	"0000785703"
"0000374856"	"0000785704"
"0000374857"	"0000785705"
"0000374858"	"0000785706"
"0000374859"	"0000785707"
"0000374860"	"0000785708"
"0000374861"	"0000785709"
"0000374862"	"0000785710"
"0000374863"	"0000785711"
"0000374864"	"0000785712"
"0000374865"	"0000785713"
"0000374866"	"0000785714"
"0000374867"	"0000785715"
"0000374868"	"0000785716"
"0000374869"	"0000785717"
"0000374870"	"0000785718"
"0000374871"	"0000785719"
"0000374872"	"0000785720"
"0000374873"	"0000785721"
"0000374874"	"0000785722"
"0000374875"	"0000785723"
"0000374876"	"0000785724"
"0000374877"	"0000785725"
"0000374878"	"0000785726"
"0000374879"	"0000785727"
"0000374880"	"0000785728"
"0000469450"	"0001049748"