### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = COL9A2)
# 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}}"
"COL9A2"	"collagen, type IX, alpha 2"	"1"	"p33-p32"	"unknown"	"NG_008031.1"	"UD_132118598829"	""	"https://www.LOVD.nl/COL9A2"	""	"1"	"2218"	"1298"	"120260"	"1"	"1"	"1"	"1"	"Establishment of the database was supported by the European Community\'s Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project."	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2010-04-29 00:00:00"	"00006"	"2018-12-07 19:25:36"	"00006"	"2025-09-23 14:50:41"


## 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}}"
"00005482"	"COL9A2"	"collagen, type IX, alpha 2"	"001"	"NM_001852.3"	""	"NP_001843.1"	""	""	""	"-70"	"2761"	"2070"	"40782939"	"40766163"	""	"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}}"
"00198"	"?"	"unclassified / mixed"	""	""	""	""	""	"00006"	"2013-09-13 14:21:47"	"00006"	"2024-11-23 09:38:12"
"00548"	"EDM2"	"dysplasia, epiphyseal, multiple, type 2 (EDM-2)"	"AD"	"600204"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"00549"	"STL5"	"Stickler syndrome, type V (STL-5)"	"AR"	"614284"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"00621"	"STL4"	"Stickler syndrome, type IV (STL-4)"	""	"614134"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2021-12-10 21:51:32"
"02474"	"IDD"	"intervertebral disc disease (IDD)"	""	"603932"	""	""	""	"00006"	"2014-09-25 23:29:40"	"00006"	"2015-03-13 12:24:43"
"04184"	"stature, short"	"stature, short"	""	""	""	""	""	"00006"	"2015-02-09 15:44:22"	"00006"	"2015-02-09 15:45:17"
"05611"	"NDD"	"neurodevelopmental disorder (NDD)"	""	""	""	""	""	"00006"	"2019-06-19 12:27:20"	"00006"	"2024-12-13 11:12:21"
"05631"	"-"	"lumbar stenosis, familial"	""	"152550"	""	""	""	"00008"	"2019-07-24 14:19:55"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 3
"{{geneid}}"	"{{diseaseid}}"
"COL9A2"	"00548"
"COL9A2"	"00549"
"COL9A2"	"02474"


## Individuals ## Do not remove or alter this header ##
## Count = 24
"{{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}}"
"00207703"	""	""	""	"1"	""	"02414"	""	""	"M"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00207704"	""	""	""	"2"	""	"02414"	""	""	"F"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00207705"	""	""	"00207704"	"1"	""	"02414"	""	""	"M"	"yes"	"United Kingdom (Great Britain)"	""	"0"	""	""	""	""
"00248511"	""	""	""	"6"	""	"00000"	""	"in 4 families all carriers were affected"	""	""	"Finland"	""	"0"	""	""	""	""
"00248512"	""	""	""	"12"	""	"00000"	""	"4-generation family, 12 affecteds"	""	""	""	""	"0"	""	""	""	""
"00248513"	""	""	""	"1"	""	"00000"	""	""	""	""	""	""	"0"	""	""	""	""
"00248514"	""	""	""	"1"	""	"00000"	""	""	""	""	"Japan"	""	"0"	""	""	""	""
"00248515"	""	""	""	"3"	""	"00000"	""	"family, 3 affecteds"	""	""	""	""	"0"	""	""	""	""
"00248516"	""	""	""	"4"	""	"00000"	""	"4-generation family"	""	""	""	""	"0"	""	""	""	""
"00248517"	""	""	""	"1"	""	"00000"	""	"large family"	""	""	""	""	"0"	""	""	""	""
"00248518"	""	""	""	"1"	""	"00000"	""	"4-generation family"	""	""	""	""	"0"	""	""	""	""
"00248519"	""	""	""	"1"	""	"00000"	""	""	""	""	""	""	"0"	""	""	""	""
"00248520"	""	""	""	"3"	""	"00000"	""	"2-generation family, 3 affecteds"	""	""	""	""	"0"	""	""	""	""
"00248521"	""	""	""	"8"	""	"00000"	""	"5-generation family, 8 affecteds; affected brother and sister, unaffected carrier father, mother and sibs"	""	"yes"	"India"	""	"0"	""	""	"Asian"	""
"00269427"	""	""	""	"1"	""	"01164"	""	""	"M"	""	""	""	"0"	""	""	""	""
"00289830"	""	""	""	"6"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289831"	""	""	""	"190"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289832"	""	""	""	"229"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00289833"	""	""	""	"27"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00304200"	""	""	""	"4"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00304201"	""	""	""	"8"	""	"03575"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	"analysis 2794 individuals (India)"	""	""	"India"	""	"0"	""	""	""	""
"00453054"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}"	""	"F"	""	""	""	"0"	""	""	""	"Pat10"
"00453087"	""	""	""	"1"	""	"00006"	"{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}"	""	"M"	""	""	""	"0"	""	""	""	"Pat43"
"00466684"	""	""	""	"1"	""	"00006"	"{PMID:Plachy 2019:30753492}"	""	"M"	""	"Czech Republic"	""	"0"	""	""	""	"Pat5"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 24
"{{individualid}}"	"{{diseaseid}}"
"00207703"	"00621"
"00207704"	"00621"
"00207705"	"00621"
"00248511"	"02474"
"00248512"	"00548"
"00248513"	"00548"
"00248514"	"00548"
"00248515"	"00548"
"00248516"	"00548"
"00248517"	"00548"
"00248518"	"00548"
"00248519"	"05631"
"00248520"	"00548"
"00248521"	"00549"
"00269427"	"00198"
"00289830"	"00198"
"00289831"	"00198"
"00289832"	"00198"
"00289833"	"00198"
"00304200"	"00198"
"00304201"	"00198"
"00453054"	"05611"
"00453087"	"05611"
"00466684"	"04184"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00198, 00548, 00549, 00621, 02474, 04184, 05611, 05631
## Count = 13
"{{id}}"	"{{diseaseid}}"	"{{individualid}}"	"{{owned_by}}"	"{{Phenotype/Inheritance}}"	"{{Phenotype/Age}}"	"{{Phenotype/Additional}}"	"{{Phenotype/Age/Onset}}"	"{{Phenotype/Age/Diagnosis}}"	"{{Phenotype/Onset}}"	"{{Phenotype/Protein}}"	"{{Phenotype/Tumor/MSI}}"	"{{Phenotype/Enzyme/CPK}}"	"{{Phenotype/Heart/Myocardium}}"	"{{Phenotype/Lung}}"	"{{Phenotype/Diagnosis/Definite}}"	"{{Phenotype/Diagnosis/Initial}}"	"{{Phenotype/Diagnosis/Criteria}}"
"0000155494"	"00621"	"00207703"	"02414"	"Familial, autosomal recessive"	"02y"	"Congenital sensorineural hearing loss\r\nHigh myopia\r\nHypoplastic vitreous\r\nFlat midface"	""	""	""	""	""	""	""	""	"Stickler Syndrome"	""	""
"0000155495"	"00621"	"00207704"	"02414"	"Familial, autosomal recessive"	"15y"	"Congenital sensorineural hearing loss\r\nHigh myopia\r\nHypoplastic vitreous\r\nSnailtrack retinal degeneration with round retinal holes\r\nEarly hip arthropathy"	""	""	""	"trwn2"	""	""	""	""	""	""	""
"0000155496"	"00621"	"00207705"	"02414"	"Familial, autosomal recessive"	""	"Congenital sensorineural hearing loss\r\nMyopia\r\nHypoplastic vitreous\r\nMild knee arthropathy"	""	""	""	"trwn2"	""	""	""	""	""	""	""
"0000187485"	"00548"	"00248513"	"00008"	"Familial"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000187486"	"00548"	"00248512"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000187487"	"00548"	"00248514"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000187488"	"00548"	"00248515"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000187489"	"00548"	"00248517"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000187490"	"00548"	"00248518"	"00008"	"Familial, autosomal dominant"	""	""	""	""	""	""	""	""	""	""	""	""	""
"0000207252"	"00198"	"00269427"	"01164"	"Unknown"	""	"Talipes (HP:0001883); Myopia (HP:0000545); Delayed speech and language development (HP:0000750)"	""	""	""	""	""	""	""	""	""	""	""
"0000341699"	"05611"	"00453054"	"00006"	"Familial"	"13y8m"	"see paper; ... (very detailed phenotype descriptions)"	""	""	""	""	""	""	""	""	"KLEFS2"	"neurodevelopmental disorder"	""
"0000341732"	"05611"	"00453087"	"00006"	"Unknown"	"38y"	"see paper; ... (very detailed phenotype descriptions)"	""	""	""	""	""	""	""	""	"KLEFS2"	"neurodevelopmental disorder"	""
"0000352047"	"04184"	"00466684"	"00006"	"Unknown"	"9y"	"see paper; ..., small for gestational age; height SDS-3.34; birth weight SDS-2.13, length SDS-3.52"	""	""	""	""	""	""	""	""	""	"short stature"	""


## Screenings ## Do not remove or alter this header ##
## Count = 24
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"	"{{Screening/Tissue}}"	"{{Screening/Remarks}}"
"0000208744"	"00207703"	"1"	"02414"	"02414"	"2018-11-28 23:55:36"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000208745"	"00207704"	"1"	"02414"	"02414"	"2018-11-29 00:01:00"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000208746"	"00207705"	"1"	"02414"	"02414"	"2018-11-29 00:11:44"	""	""	"SEQ-NG-I"	"DNA"	""	""
"0000249614"	"00248511"	"1"	"00000"	"00006"	"2011-10-21 15:02:25"	""	""	"SEQ"	"DNA"	""	""
"0000249615"	"00248512"	"1"	"00000"	"00006"	"2011-10-21 15:02:25"	""	""	"SEQ"	"DNA"	""	""
"0000249616"	"00248513"	"1"	"00000"	"00006"	"2011-10-21 15:02:25"	""	""	"SEQ"	"DNA"	""	""
"0000249617"	"00248514"	"1"	"00000"	"00006"	"2011-10-21 15:02:25"	""	""	"SEQ"	"DNA"	""	""
"0000249618"	"00248515"	"1"	"00000"	"00006"	"2011-10-21 15:02:25"	""	""	"SEQ"	"DNA"	""	""
"0000249619"	"00248516"	"1"	"00000"	"00006"	"2011-10-21 15:02:25"	""	""	"SEQ"	"DNA"	""	""
"0000249620"	"00248517"	"1"	"00000"	"00006"	"2011-10-21 15:02:25"	""	""	"SEQ"	"DNA"	""	""
"0000249621"	"00248518"	"1"	"00000"	"00006"	"2011-10-21 15:02:25"	""	""	"SEQ"	"DNA"	""	""
"0000249622"	"00248519"	"1"	"00000"	"00006"	"2011-10-21 15:02:25"	""	""	"SEQ"	"DNA"	""	""
"0000249623"	"00248520"	"1"	"00000"	"00006"	"2011-10-21 15:02:25"	""	""	"SEQ"	"DNA"	""	""
"0000249624"	"00248521"	"1"	"00000"	"00006"	"2011-10-21 15:02:25"	""	""	"SEQ"	"DNA"	""	""
"0000270570"	"00269427"	"1"	"01164"	"01164"	"2019-11-26 10:38:21"	""	""	"SEQ-NG-S"	"DNA"	""	""
"0000290998"	"00289830"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000290999"	"00289831"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291000"	"00289832"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000291001"	"00289833"	"1"	"03575"	"00006"	"2020-03-11 19:30:02"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000305329"	"00304200"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000305330"	"00304201"	"1"	"03575"	"00006"	"2020-06-24 11:55:42"	""	""	"arraySNP"	"DNA"	""	"Infinium Global Screening Array v1.0"
"0000454665"	"00453054"	"1"	"00006"	"00006"	"2024-08-15 19:46:57"	""	""	"SEQ-NG;SEQ"	"DNA"	""	""
"0000454698"	"00453087"	"1"	"00006"	"00006"	"2024-08-15 19:46:57"	""	""	"SEQ-NG;SEQ"	"DNA"	""	""
"0000468348"	"00466684"	"1"	"00006"	"00006"	"2025-09-23 14:50:33"	""	""	"SEQ-NG"	"DNA"	""	"WES"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 29
"{{screeningid}}"	"{{geneid}}"
"0000208744"	"COL11A1"
"0000208744"	"COL11A2"
"0000208744"	"COL2A1"
"0000208744"	"COL9A1"
"0000208744"	"COL9A2"
"0000208744"	"COL9A3"
"0000208745"	"COL11A1"
"0000208745"	"COL11A2"
"0000208745"	"COL2A1"
"0000208745"	"COL9A1"
"0000208745"	"COL9A2"
"0000208745"	"COL9A3"
"0000208746"	"COL11A1"
"0000208746"	"COL11A2"
"0000208746"	"COL2A1"
"0000208746"	"COL9A1"
"0000208746"	"COL9A2"
"0000208746"	"COL9A3"
"0000249614"	"COL9A2"
"0000249615"	"COL9A2"
"0000249616"	"COL9A2"
"0000249617"	"COL9A2"
"0000249618"	"COL9A2"
"0000249619"	"COL9A2"
"0000249620"	"COL9A2"
"0000249621"	"COL9A2"
"0000249622"	"COL9A2"
"0000249623"	"COL9A2"
"0000249624"	"COL9A2"


## 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 = 188
"{{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}}"
"0000250185"	"0"	"10"	"1"	"40767578"	"40767578"	"subst"	"0.0401265"	"02329"	"COL9A2_000075"	"g.40767578A>G"	""	""	""	"COL9A2():Chr1(GRCh37):g.40767578A>G, COL9A2(NM_001852.4):c.1793-17T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40301906A>G"	""	"benign"	""
"0000250186"	"0"	"10"	"1"	"40770456"	"40770456"	"subst"	"0.0286609"	"02329"	"COL9A2_000013"	"g.40770456A>T"	""	""	""	"COL9A2(NM_001852.4):c.1161+10T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40304784A>T"	""	"benign"	""
"0000250187"	"0"	"10"	"1"	"40775926"	"40775926"	"subst"	"0.0444221"	"02329"	"COL9A2_000021"	"g.40775926A>G"	""	""	""	"COL9A2(NM_001852.4):c.738+10T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40310254A>G"	""	"benign"	""
"0000264951"	"0"	"10"	"1"	"40771808"	"40771808"	"subst"	"0.00160823"	"02330"	"COL9A2_000015"	"g.40771808G>A"	""	""	""	"COL9A2(NM_001852.4):c.1053+7C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40306136G>A"	""	"benign"	""
"0000264952"	"0"	"10"	"1"	"40769603"	"40769603"	"subst"	"2.67788E-5"	"02330"	"COL9A2_000011"	"g.40769603C>T"	""	""	""	"COL9A2(NM_001852.4):c.1365G>A (p.E455=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40303931C>T"	""	"benign"	""
"0000264954"	"0"	"50"	"1"	"40768332"	"40768332"	"subst"	"0.000185772"	"02330"	"COL9A2_000076"	"g.40768332C>A"	""	""	""	"COL9A2(NM_001852.4):c.1753G>T (p.V585L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40302660C>A"	""	"VUS"	""
"0000264955"	"0"	"50"	"1"	"40767496"	"40767496"	"subst"	"1.62741E-5"	"02330"	"COL9A2_000074"	"g.40767496G>A"	""	""	""	"COL9A2(NM_001852.4):c.1858C>T (p.P620S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40301824G>A"	""	"VUS"	""
"0000264957"	"0"	"30"	"1"	"40766942"	"40766942"	"subst"	"0.00212729"	"02330"	"COL9A2_000073"	"g.40766942G>A"	""	""	""	"COL9A2(NM_001852.3):c.1982C>T (p.(Pro661Leu)), COL9A2(NM_001852.4):c.1982C>T (p.P661L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40301270G>A"	""	"likely benign"	""
"0000264958"	"0"	"10"	"1"	"40779901"	"40779901"	"subst"	"0"	"02330"	"COL9A2_000030"	"g.40779901C>G"	""	""	""	"COL9A2(NM_001852.4):c.225G>C (p.G75=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40314229C>G"	""	"benign"	""
"0000264959"	"0"	"30"	"1"	"40779894"	"40779894"	"subst"	"3.24865E-5"	"02330"	"COL9A2_000029"	"g.40779894C>T"	""	""	""	"COL9A2(NM_001852.4):c.232G>A (p.G78R, p.(Gly78Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40314222C>T"	""	"likely benign"	""
"0000264960"	"0"	"10"	"1"	"40779860"	"40779860"	"subst"	"2.84259E-5"	"02330"	"COL9A2_000028"	"g.40779860G>A"	""	""	""	"COL9A2(NM_001852.4):c.249+17C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40314188G>A"	""	"benign"	""
"0000264961"	"0"	"50"	"1"	"40776812"	"40776812"	"subst"	"0"	"02330"	"COL9A2_000024"	"g.40776812C>A"	""	""	""	"COL9A2(NM_001852.4):c.583G>T (p.A195S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40311140C>A"	""	"VUS"	""
"0000264962"	"0"	"10"	"1"	"40773387"	"40773387"	"subst"	"0.000105732"	"02330"	"COL9A2_000020"	"g.40773387C>T"	""	""	""	"COL9A2(NM_001852.4):c.942G>A (p.T314=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40307715C>T"	""	"benign"	""
"0000264963"	"0"	"10"	"1"	"40781317"	"40781317"	"subst"	"0.000690299"	"02330"	"COL9A2_000032"	"g.40781317C>T"	""	""	""	"COL9A2(NM_001852.3):c.95G>A (p.(Arg32Gln)), COL9A2(NM_001852.4):c.95G>A (p.R32Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40315645C>T"	""	"benign"	""
"0000268508"	"0"	"10"	"1"	"40773123"	"40773123"	"subst"	"0.104312"	"02329"	"COL9A2_000017"	"g.40773123G>C"	""	""	""	"COL9A2(NM_001852.4):c.1003C>G (p.L335V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40307451G>C"	""	"benign"	""
"0000268509"	"0"	"10"	"1"	"40771432"	"40771432"	"subst"	"0.0301164"	"02329"	"COL9A2_000014"	"g.40771432C>T"	""	""	""	"COL9A2(NM_001852.4):c.1062G>A (p.P354=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40305760C>T"	""	"benign"	""
"0000268510"	"0"	"10"	"1"	"40769783"	"40769783"	"subst"	"0.0516654"	"02329"	"COL9A2_000012"	"g.40769783G>A"	""	""	""	"COL9A2(NM_001852.4):c.1288-12C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40304111G>A"	""	"benign"	""
"0000268511"	"0"	"10"	"1"	"40769584"	"40769584"	"subst"	"0.0389553"	"02329"	"COL9A2_000010"	"g.40769584T>C"	""	""	""	"COL9A2(NM_001852.4):c.1368+16A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40303912T>C"	""	"benign"	""
"0000268512"	"0"	"10"	"1"	"40769185"	"40769185"	"subst"	"0.0237634"	"02329"	"COL9A2_000079"	"g.40769185C>G"	""	""	""	"COL9A2(NM_001852.4):c.1548+17G>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40303513C>G"	""	"benign"	""
"0000268514"	"0"	"10"	"1"	"40768344"	"40768344"	"subst"	"0.0375749"	"02329"	"COL9A2_000077"	"g.40768344C>T"	""	""	""	"COL9A2(NM_001852.3):c.1741G>A (p.(Val581Ile)), COL9A2(NM_001852.4):c.1741G>A (p.V581I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40302672C>T"	""	"benign"	""
"0000268515"	"0"	"10"	"1"	"40766923"	"40766923"	"subst"	"0.0178507"	"02329"	"COL9A2_000071"	"g.40766923G>A"	""	""	""	"COL9A2(NM_001852.4):c.2001C>T (p.A667=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40301251G>A"	""	"benign"	""
"0000268516"	"0"	"30"	"1"	"40779858"	"40779858"	"subst"	"0.000929942"	"02329"	"COL9A2_000027"	"g.40779858C>T"	""	""	""	"COL9A2(NM_001852.4):c.249+19G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40314186C>T"	""	"likely benign"	""
"0000268517"	"0"	"10"	"1"	"40777800"	"40777800"	"subst"	"0.297848"	"02329"	"COL9A2_000025"	"g.40777800T>G"	""	""	""	"COL9A2(NM_001852.4):c.364-16A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40312128T>G"	""	"benign"	""
"0000268518"	"0"	"10"	"1"	"40777804"	"40777804"	"subst"	"0.0593183"	"02329"	"COL9A2_000026"	"g.40777804T>C"	""	""	""	"COL9A2(NM_001852.4):c.364-20A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40312132T>C"	""	"benign"	""
"0000268519"	"0"	"10"	"1"	"40776752"	"40776752"	"subst"	"0.173796"	"02329"	"COL9A2_000023"	"g.40776752C>A"	""	""	""	"COL9A2(NM_001852.4):c.630+13G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40311080C>A"	""	"benign"	""
"0000268520"	"0"	"10"	"1"	"40775937"	"40775937"	"subst"	"0.0218248"	"02329"	"COL9A2_000022"	"g.40775937G>A"	""	""	""	"COL9A2(NM_001852.3):c.737C>T (p.(Thr246Met)), COL9A2(NM_001852.4):c.737C>T (p.T246M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40310265G>A"	""	"benign"	""
"0000268521"	"0"	"10"	"1"	"40773175"	"40773175"	"subst"	"0.0271979"	"02329"	"COL9A2_000019"	"g.40773175G>C"	""	""	""	"COL9A2(NM_001852.3):c.955-4C>G (p.?), COL9A2(NM_001852.4):c.955-4C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40307503G>C"	""	"benign"	""
"0000268522"	"0"	"10"	"1"	"40773149"	"40773149"	"subst"	"0.302795"	"02329"	"COL9A2_000018"	"g.40773149T>C"	""	""	""	"COL9A2(NM_001852.4):c.977A>G (p.Q326R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40307477T>C"	""	"benign"	""
"0000274310"	"0"	"30"	"1"	"40771827"	"40771827"	"subst"	"0.000942186"	"01943"	"COL9A2_000016"	"g.40771827G>A"	""	""	""	"COL9A2(NM_001852.4):c.1041C>T (p.G347=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40306155G>A"	""	"likely benign"	""
"0000320763"	"0"	"50"	"1"	"40780061"	"40780061"	"subst"	"0"	"01804"	"COL9A2_000031"	"g.40780061T>G"	""	""	""	"COL9A2(NM_001852.3):c.151-2A>C (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40314389T>G"	""	"VUS"	""
"0000337982"	"0"	"10"	"1"	"40768276"	"40768276"	"subst"	"0.029844"	"02327"	"COL9A2_000033"	"g.40768276C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40302604C>T"	""	"benign"	""
"0000337983"	"0"	"10"	"1"	"40769584"	"40769584"	"subst"	"0.0389553"	"02327"	"COL9A2_000010"	"g.40769584T>C"	""	""	""	"COL9A2(NM_001852.4):c.1368+16A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40303912T>C"	""	"benign"	""
"0000337984"	"0"	"10"	"1"	"40769783"	"40769783"	"subst"	"0.0516654"	"02327"	"COL9A2_000012"	"g.40769783G>A"	""	""	""	"COL9A2(NM_001852.4):c.1288-12C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40304111G>A"	""	"benign"	""
"0000337985"	"0"	"10"	"1"	"40770456"	"40770456"	"subst"	"0.0286609"	"02327"	"COL9A2_000013"	"g.40770456A>T"	""	""	""	"COL9A2(NM_001852.4):c.1161+10T>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40304784A>T"	""	"benign"	""
"0000337986"	"0"	"10"	"1"	"40773175"	"40773175"	"subst"	"0.0271979"	"02327"	"COL9A2_000019"	"g.40773175G>C"	""	""	""	"COL9A2(NM_001852.3):c.955-4C>G (p.?), COL9A2(NM_001852.4):c.955-4C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40307503G>C"	""	"benign"	""
"0000337987"	"0"	"10"	"1"	"40775767"	"40775767"	"subst"	"0.00946216"	"02327"	"COL9A2_000035"	"g.40775767G>A"	""	""	""	"COL9A2(NM_001852.4):c.792+16C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40310095G>A"	""	"benign"	""
"0000337988"	"0"	"10"	"1"	"40775926"	"40775926"	"subst"	"0.0444221"	"02327"	"COL9A2_000021"	"g.40775926A>G"	""	""	""	"COL9A2(NM_001852.4):c.738+10T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40310254A>G"	""	"benign"	""
"0000337989"	"0"	"10"	"1"	"40776752"	"40776752"	"subst"	"0.173796"	"02327"	"COL9A2_000023"	"g.40776752C>A"	""	""	""	"COL9A2(NM_001852.4):c.630+13G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40311080C>A"	""	"benign"	""
"0000337990"	"0"	"10"	"1"	"40777800"	"40777800"	"subst"	"0.297848"	"02327"	"COL9A2_000025"	"g.40777800T>G"	""	""	""	"COL9A2(NM_001852.4):c.364-16A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40312128T>G"	""	"benign"	""
"0000337991"	"0"	"10"	"1"	"40777804"	"40777804"	"subst"	"0.0593183"	"02327"	"COL9A2_000026"	"g.40777804T>C"	""	""	""	"COL9A2(NM_001852.4):c.364-20A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40312132T>C"	""	"benign"	""
"0000340024"	"0"	"10"	"1"	"40771432"	"40771432"	"subst"	"0.0301164"	"02327"	"COL9A2_000014"	"g.40771432C>T"	""	""	""	"COL9A2(NM_001852.4):c.1062G>A (p.P354=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40305760C>T"	""	"benign"	""
"0000345359"	"0"	"10"	"1"	"40773149"	"40773149"	"subst"	"0.302795"	"02327"	"COL9A2_000018"	"g.40773149T>C"	""	""	""	"COL9A2(NM_001852.4):c.977A>G (p.Q326R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40307477T>C"	""	"benign"	""
"0000346048"	"0"	"50"	"1"	"40770192"	"40770192"	"subst"	"4.06517E-6"	"02327"	"COL9A2_000034"	"g.40770192C>T"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40304520C>T"	""	"VUS"	""
"0000347112"	"0"	"10"	"1"	"40773123"	"40773123"	"subst"	"0.104312"	"02327"	"COL9A2_000017"	"g.40773123G>C"	""	""	""	"COL9A2(NM_001852.4):c.1003C>G (p.L335V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40307451G>C"	""	"benign"	""
"0000350598"	"0"	"10"	"1"	"40768344"	"40768344"	"subst"	"0.0375749"	"02327"	"COL9A2_000077"	"g.40768344C>T"	""	""	""	"COL9A2(NM_001852.3):c.1741G>A (p.(Val581Ile)), COL9A2(NM_001852.4):c.1741G>A (p.V581I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40302672C>T"	""	"benign"	""
"0000351172"	"0"	"10"	"1"	"40777792"	"40777792"	"subst"	"0.0292928"	"02327"	"COL9A2_000036"	"g.40777792G>A"	""	""	""	"COL9A2(NM_001852.3):c.364-8C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	"0"	""	""	"g.40312120G>A"	""	"benign"	""
"0000438695"	"3"	"90"	"1"	"40781317"	"40781317"	"del"	"0"	"02414"	"COL9A2_000038"	"g.40781317del"	""	""	""	"98delG"	""	"Germline"	"yes"	""	"0"	""	""	"g.40315645del"	""	"pathogenic"	""
"0000438696"	"3"	"90"	"1"	"40768376"	"40768401"	"del"	"0"	"02414"	"COL9A2_000037"	"g.40768376_40768401del"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.40302704_40302729del"	""	"pathogenic"	""
"0000438697"	"3"	"90"	"1"	"40768376"	"40768401"	"del"	"0"	"02414"	"COL9A2_000037"	"g.40768376_40768401del"	""	""	""	""	""	"Germline"	"yes"	""	"0"	""	""	"g.40302704_40302729del"	""	"pathogenic"	""
"0000507414"	"0"	"50"	"1"	"40766942"	"40766942"	"subst"	"0.00212729"	"01804"	"COL9A2_000073"	"g.40766942G>A"	""	""	""	"COL9A2(NM_001852.3):c.1982C>T (p.(Pro661Leu)), COL9A2(NM_001852.4):c.1982C>T (p.P661L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40301270G>A"	""	"VUS"	""
"0000507415"	"0"	"10"	"1"	"40766962"	"40766962"	"subst"	"0.000311214"	"02330"	"COL9A2_000039"	"g.40766962C>A"	""	""	""	"COL9A2(NM_001852.4):c.1962G>T (p.L654=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40301290C>A"	""	"benign"	""
"0000507416"	"0"	"30"	"1"	"40767061"	"40767061"	"subst"	"4.21599E-5"	"02330"	"COL9A2_000040"	"g.40767061C>A"	""	""	""	"COL9A2(NM_001852.4):c.1871-8G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40301389C>A"	""	"likely benign"	""
"0000507417"	"0"	"50"	"1"	"40767530"	"40767530"	"subst"	"0.000325357"	"02330"	"COL9A2_000041"	"g.40767530T>C"	""	""	""	"COL9A2(NM_001852.4):c.1824A>G (p.E608=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40301858T>C"	""	"VUS"	""
"0000507418"	"0"	"30"	"1"	"40767530"	"40767530"	"subst"	"0.000325357"	"01943"	"COL9A2_000041"	"g.40767530T>C"	""	""	""	"COL9A2(NM_001852.4):c.1824A>G (p.E608=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40301858T>C"	""	"likely benign"	""
"0000507419"	"0"	"10"	"1"	"40767578"	"40767578"	"subst"	"0.0401265"	"02327"	"COL9A2_000075"	"g.40767578A>G"	""	""	""	"COL9A2():Chr1(GRCh37):g.40767578A>G, COL9A2(NM_001852.4):c.1793-17T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40301906A>G"	""	"benign"	""
"0000507420"	"0"	"30"	"1"	"40768344"	"40768344"	"subst"	"0.0375749"	"01804"	"COL9A2_000077"	"g.40768344C>T"	""	""	""	"COL9A2(NM_001852.3):c.1741G>A (p.(Val581Ile)), COL9A2(NM_001852.4):c.1741G>A (p.V581I)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40302672C>T"	""	"likely benign"	""
"0000507422"	"0"	"10"	"1"	"40768500"	"40768507"	"del"	"0"	"02329"	"COL9A2_000043"	"g.40768500_40768507del"	""	""	""	"COL9A2(NM_001852.4):c.1604-10_1604-3delCTCCCTCC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40302828_40302835del"	""	"benign"	""
"0000507423"	"0"	"10"	"1"	"40768504"	"40768507"	"dup"	"0"	"02330"	"COL9A2_000044"	"g.40768504_40768507dup"	""	""	""	"COL9A2(NM_001852.3):c.1604-3_1604-2insCTCC (p.?), COL9A2(NM_001852.4):c.1604-6_1604-3dupCTCC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40302832_40302835dup"	""	"benign"	""
"0000507424"	"0"	"10"	"1"	"40768504"	"40768507"	"dup"	"0"	"02329"	"COL9A2_000044"	"g.40768504_40768507dup"	""	""	""	"COL9A2(NM_001852.3):c.1604-3_1604-2insCTCC (p.?), COL9A2(NM_001852.4):c.1604-6_1604-3dupCTCC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40302832_40302835dup"	""	"benign"	""
"0000507425"	"0"	"30"	"1"	"40768855"	"40768855"	"subst"	"0.000497246"	"02330"	"COL9A2_000045"	"g.40768855G>A"	""	""	""	"COL9A2(NM_001852.4):c.1551C>T (p.G517=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40303183G>A"	""	"likely benign"	""
"0000507426"	"0"	"10"	"1"	"40769588"	"40769588"	"subst"	"0.0537862"	"02329"	"COL9A2_000046"	"g.40769588C>T"	""	""	""	"COL9A2(NM_001852.4):c.1368+12G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40303916C>T"	""	"benign"	""
"0000507427"	"0"	"10"	"1"	"40769978"	"40769978"	"subst"	"5.21968E-5"	"02330"	"COL9A2_000047"	"g.40769978G>T"	""	""	""	"COL9A2(NM_001852.4):c.1287+14C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40304306G>T"	""	"benign"	""
"0000507428"	"0"	"10"	"1"	"40770477"	"40770477"	"subst"	"0.00170276"	"02330"	"COL9A2_000048"	"g.40770477T>G"	""	""	""	"COL9A2(NM_001852.4):c.1150A>C (p.M384L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40304805T>G"	""	"benign"	""
"0000507429"	"0"	"50"	"1"	"40770489"	"40770489"	"subst"	"0"	"01943"	"COL9A2_000049"	"g.40770489G>A"	""	""	""	"COL9A2(NM_001852.4):c.1138C>T (p.P380S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40304817G>A"	""	"VUS"	""
"0000507430"	"0"	"30"	"1"	"40773119"	"40773119"	"subst"	"0.000550584"	"02330"	"COL9A2_000050"	"g.40773119G>T"	""	""	""	"COL9A2(NM_001852.4):c.1007C>A (p.A336E)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40307447G>T"	""	"likely benign"	""
"0000507431"	"0"	"30"	"1"	"40773150"	"40773150"	"subst"	"0.0307859"	"01804"	"COL9A2_000051"	"g.40773150G>A"	""	""	""	"COL9A2(NM_001852.3):c.976C>T (p.(Gln326*))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40307478G>A"	""	"likely benign"	""
"0000507432"	"0"	"30"	"1"	"40773175"	"40773175"	"subst"	"0.0271979"	"01804"	"COL9A2_000019"	"g.40773175G>C"	""	""	""	"COL9A2(NM_001852.3):c.955-4C>G (p.?), COL9A2(NM_001852.4):c.955-4C>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40307503G>C"	""	"likely benign"	""
"0000507433"	"0"	"50"	"1"	"40773410"	"40773410"	"subst"	"0.000154454"	"01804"	"COL9A2_000052"	"g.40773410C>T"	""	""	""	"COL9A2(NM_001852.3):c.919G>A (p.(Gly307Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40307738C>T"	""	"VUS"	""
"0000507434"	"0"	"10"	"1"	"40773925"	"40773925"	"subst"	"0.000110167"	"02330"	"COL9A2_000053"	"g.40773925G>A"	""	""	""	"COL9A2(NM_001852.4):c.847-8C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40308253G>A"	""	"benign"	""
"0000507435"	"0"	"50"	"1"	"40775641"	"40775641"	"subst"	"2.4369E-5"	"01943"	"COL9A2_000054"	"g.40775641G>A"	""	""	""	"COL9A2(NM_001852.4):c.815C>T (p.P272L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40309969G>A"	""	"VUS"	""
"0000507436"	"0"	"10"	"1"	"40775767"	"40775767"	"subst"	"0.00946216"	"02329"	"COL9A2_000035"	"g.40775767G>A"	""	""	""	"COL9A2(NM_001852.4):c.792+16C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40310095G>A"	""	"benign"	""
"0000507437"	"0"	"50"	"1"	"40775809"	"40775809"	"subst"	"4.06072E-6"	"01943"	"COL9A2_000055"	"g.40775809C>T"	""	""	""	"COL9A2(NM_001852.4):c.766G>A (p.G256S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40310137C>T"	""	"VUS"	""
"0000507438"	"0"	"30"	"1"	"40775937"	"40775937"	"subst"	"0.0218248"	"01804"	"COL9A2_000022"	"g.40775937G>A"	""	""	""	"COL9A2(NM_001852.3):c.737C>T (p.(Thr246Met)), COL9A2(NM_001852.4):c.737C>T (p.T246M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40310265G>A"	""	"likely benign"	""
"0000507439"	"0"	"30"	"1"	"40776916"	"40776916"	"subst"	"0.000442859"	"01943"	"COL9A2_000056"	"g.40776916G>T"	""	""	""	"COL9A2(NM_001852.4):c.562C>A (p.L188M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40311244G>T"	""	"likely benign"	""
"0000507440"	"0"	"10"	"1"	"40776934"	"40776934"	"subst"	"0.00187337"	"01943"	"COL9A2_000057"	"g.40776934T>C"	""	""	""	"COL9A2(NM_001852.4):c.544A>G (p.M182V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40311262T>C"	""	"benign"	""
"0000507441"	"0"	"30"	"1"	"40777744"	"40777744"	"subst"	"0"	"01804"	"COL9A2_000058"	"g.40777744A>T"	""	""	""	"COL9A2(NM_001852.3):c.404T>A (p.(Ile135Asn))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40312072A>T"	""	"likely benign"	""
"0000507442"	"0"	"30"	"1"	"40777792"	"40777792"	"subst"	"0.0292928"	"01804"	"COL9A2_000036"	"g.40777792G>A"	""	""	""	"COL9A2(NM_001852.3):c.364-8C>T (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40312120G>A"	""	"likely benign"	""
"0000507443"	"0"	"10"	"1"	"40777800"	"40777800"	"subst"	"0.000519278"	"02330"	"COL9A2_000059"	"g.40777800T>C"	""	""	""	"COL9A2(NM_001852.4):c.364-16A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40312128T>C"	""	"benign"	""
"0000507444"	"0"	"30"	"1"	"40778109"	"40778109"	"subst"	"0"	"02329"	"COL9A2_000060"	"g.40778109C>T"	""	""	""	"COL9A2(NM_001852.4):c.363+19G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40312437C>T"	""	"likely benign"	""
"0000507445"	"0"	"10"	"1"	"40778295"	"40778295"	"subst"	"0.00025762"	"02330"	"COL9A2_000061"	"g.40778295G>A"	""	""	""	"COL9A2(NM_001852.4):c.304-14C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40312623G>A"	""	"benign"	""
"0000507446"	"0"	"10"	"1"	"40778463"	"40778463"	"subst"	"0.000342011"	"02330"	"COL9A2_000062"	"g.40778463A>G"	""	""	""	"COL9A2(NM_001852.3):c.250-7T>C (p.(=)), COL9A2(NM_001852.4):c.250-7T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40312791A>G"	""	"benign"	""
"0000507447"	"0"	"30"	"1"	"40778463"	"40778463"	"subst"	"0.000342011"	"01804"	"COL9A2_000062"	"g.40778463A>G"	""	""	""	"COL9A2(NM_001852.3):c.250-7T>C (p.(=)), COL9A2(NM_001852.4):c.250-7T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40312791A>G"	""	"likely benign"	""
"0000507448"	"0"	"50"	"1"	"40779894"	"40779894"	"subst"	"3.24865E-5"	"02327"	"COL9A2_000029"	"g.40779894C>T"	""	""	""	"COL9A2(NM_001852.4):c.232G>A (p.G78R, p.(Gly78Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40314222C>T"	""	"VUS"	""
"0000507449"	"0"	"90"	"1"	"40780022"	"40780022"	"subst"	"0"	"02327"	"COL9A2_000063"	"g.40780022A>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40314350A>G"	""	"pathogenic"	""
"0000507450"	"0"	"10"	"1"	"40780067"	"40780067"	"subst"	"0.000263955"	"02330"	"COL9A2_000064"	"g.40780067A>G"	""	""	""	"COL9A2(NM_001852.4):c.151-8T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40314395A>G"	""	"benign"	""
"0000507451"	"0"	"30"	"1"	"40781254"	"40781254"	"subst"	"0"	"01804"	"COL9A2_000065"	"g.40781254A>G"	""	""	""	"COL9A2(NM_001852.3):c.150+8T>C (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40315582A>G"	""	"likely benign"	""
"0000507452"	"0"	"30"	"1"	"40781317"	"40781317"	"subst"	"0.000690299"	"01943"	"COL9A2_000032"	"g.40781317C>T"	""	""	""	"COL9A2(NM_001852.3):c.95G>A (p.(Arg32Gln)), COL9A2(NM_001852.4):c.95G>A (p.R32Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40315645C>T"	""	"likely benign"	""
"0000507453"	"0"	"10"	"1"	"40782839"	"40782839"	"subst"	"0.000738738"	"02330"	"COL9A2_000066"	"g.40782839G>A"	""	""	""	"COL9A2(NM_001852.4):c.31C>T (p.L11F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40317167G>A"	""	"benign"	""
"0000507454"	"0"	"10"	"1"	"40782839"	"40782839"	"subst"	"0.000738738"	"01943"	"COL9A2_000066"	"g.40782839G>A"	""	""	""	"COL9A2(NM_001852.4):c.31C>T (p.L11F)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40317167G>A"	""	"benign"	""
"0000507455"	"0"	"50"	"1"	"40782848"	"40782848"	"subst"	"0"	"02330"	"COL9A2_000067"	"g.40782848G>C"	""	""	""	"COL9A2(NM_001852.4):c.22C>G (p.P8A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40317176G>C"	""	"VUS"	""
"0000578423"	"1"	"95"	"1"	"40780024"	"40780024"	"subst"	"8.12137E-6"	"00000"	"COL9A2_000003"	"g.40780024C>T"	""	"{PMID:Holden 1999:10364514}, {OMIM120260:0002}"	""	""	"normal 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.40314352C>T"	""	"pathogenic"	""
"0000578424"	"1"	"95"	"1"	"40780024"	"40780024"	"subst"	"8.12137E-6"	"00000"	"COL9A2_000003"	"g.40780024C>T"	""	"{PMID:Nakashima 2005:15633184}, {OMIM120260:0002}"	""	""	"normal 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.40314352C>T"	""	"pathogenic"	""
"0000578425"	"1"	"95"	"1"	"40780024"	"40780024"	"subst"	"8.12137E-6"	"00000"	"COL9A2_000003"	"g.40780024C>T"	""	"{PMID:Jackson 2010:20358595}, {OMIM120260:0002}"	""	""	"normal 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.40314352C>T"	""	"pathogenic"	""
"0000578426"	"1"	"95"	"1"	"40780024"	"40780024"	"subst"	"0"	"00000"	"COL9A2_000002"	"g.40780024C>G"	""	"{PMID:Fiedler 2002:12244547}, {OMIM120260:0005}"	""	""	"normal 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.40314352C>G"	""	"pathogenic"	""
"0000578427"	"1"	"95"	"1"	"40780022"	"40780022"	"subst"	"0"	"00000"	"COL9A2_000005"	"g.40780022A>G"	""	"{PMID:Muragaki 1996:08528240}, {OMIM120260:0001}"	""	"IVS3+2T>C"	"mapped by linkage; normal 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.40314350A>G"	""	"pathogenic"	""
"0000578428"	"1"	"95"	"1"	"40780022"	"40780022"	"subst"	"0"	"00000"	"COL9A2_000005"	"g.40780022A>G"	""	"{PMID:Jackson 2010:20358595}, {OMIM120260:0001}"	""	""	"normal 2nd chromosome"	"Germline"	""	""	"0"	""	""	"g.40314350A>G"	""	"pathogenic"	""
"0000578429"	"1"	"95"	"1"	"40780019"	"40780019"	"subst"	"0"	"00000"	"COL9A2_000004"	"g.40780019C>G"	""	"{PMID:Holden 1999:10364514}, {OMIM120260:0003}"	""	"IVS3+5G>C"	"normal 2nd chromosome"	"Unknown"	""	""	"0"	""	""	"g.40314347C>G"	""	"pathogenic"	""
"0000578430"	"1"	"95"	"1"	"40780018"	"40780018"	"subst"	"0"	"00000"	"COL9A2_000008"	"g.40780018A>C"	""	"{PMID:Spayde 2000:10842095}"	""	""	"mapped by linkage; normal 2nd chromosome"	"Unknown"	""	""	"0"	""	""	"g.40314346A>C"	""	"pathogenic"	""
"0000578431"	"3"	"95"	"1"	"40775606"	"40775613"	"del"	"0"	"00000"	"COL9A2_000006"	"g.40775606_40775613del8"	""	"{PMID:Baker 2011:21671392}, {OMIM120260:0006}"	""	""	"Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message."	"Unknown"	""	""	"0"	""	""	""	""	"pathogenic"	""
"0000578432"	"1"	"95"	"1"	"40773149"	"40773150"	"inv"	"0"	"00000"	"COL9A2_000001"	"g.40773149_40773150inv"	"6/157 cases"	"{PMID:Annunen 1999:10411504}, {OMIM120260:0004}"	""	"976_977delCAinsTG"	"not in 348 control chromosomes; normal 2nd chromosome"	"Unknown"	""	""	"0"	""	""	"g.40307477_40307478inv"	""	"pathogenic"	""
"0000578433"	"1"	"95"	"1"	"40769513"	"40769513"	"subst"	"0"	"00000"	"COL9A2_000007"	"g.40769513T>C"	""	"{PMID:Noponen-Hietala 2003:14644861}"	""	"IVS26-2A>C"	"RNA insertion entire intron 26 (88 bp); normal 2nd chromosome"	"Unknown"	""	""	"0"	""	""	"g.40303841T>C"	""	"pathogenic"	""
"0000604340"	"0"	"50"	"1"	"40769749"	"40769749"	"subst"	"0"	"01164"	"COL9A2_000081"	"g.40769749G>C"	""	""	""	""	"ACMG: PM2,PP3"	"Germline"	""	"rs777717075"	"0"	""	""	"g.40304077G>C"	""	"VUS"	"ACMG"
"0000604341"	"0"	"70"	"1"	"40769246"	"40769246"	"del"	"0"	"01164"	"COL9A2_000080"	"g.40769246del"	""	""	""	""	"ACMG: PVS1,PM2"	"Germline"	""	"rs1040081238"	"0"	""	""	"g.40303574del"	""	"likely pathogenic"	"ACMG"
"0000605749"	"0"	"30"	"1"	"40766943"	"40766943"	"subst"	"0.00673242"	"02330"	"COL9A2_000082"	"g.40766943G>T"	""	""	""	"COL9A2(NM_001852.3):c.1981C>A (p.(Pro661Thr)), COL9A2(NM_001852.4):c.1981C>A (p.P661T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40301271G>T"	""	"likely benign"	""
"0000605750"	"0"	"50"	"1"	"40767520"	"40767520"	"subst"	"0.000349844"	"01943"	"COL9A2_000084"	"g.40767520C>T"	""	""	""	"COL9A2(NM_001852.4):c.1834G>A (p.G612R, p.(Gly612Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40301848C>T"	""	"VUS"	""
"0000605751"	"0"	"30"	"1"	"40768324"	"40768324"	"subst"	"0.000132046"	"02330"	"COL9A2_000085"	"g.40768324G>A"	""	""	""	"COL9A2(NM_001852.4):c.1761C>T (p.A587=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40302652G>A"	""	"likely benign"	""
"0000605752"	"0"	"50"	"1"	"40768449"	"40768449"	"subst"	"2.56677E-5"	"01943"	"COL9A2_000086"	"g.40768449G>C"	""	""	""	"COL9A2(NM_001852.3):c.1636C>G (p.(Arg546Gly)), COL9A2(NM_001852.4):c.1636C>G (p.R546G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40302777G>C"	""	"VUS"	""
"0000605753"	"0"	"30"	"1"	"40768504"	"40768507"	"dup"	"0"	"01804"	"COL9A2_000044"	"g.40768504_40768507dup"	""	""	""	"COL9A2(NM_001852.3):c.1604-3_1604-2insCTCC (p.?), COL9A2(NM_001852.4):c.1604-6_1604-3dupCTCC"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40302832_40302835dup"	""	"likely benign"	""
"0000605754"	"0"	"10"	"1"	"40769718"	"40769718"	"subst"	"0.000656659"	"02330"	"COL9A2_000087"	"g.40769718A>C"	""	""	""	"COL9A2(NM_001852.4):c.1323+18T>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40304046A>C"	""	"benign"	""
"0000605755"	"0"	"30"	"1"	"40770204"	"40770204"	"subst"	"0.000256216"	"01943"	"COL9A2_000088"	"g.40770204G>A"	""	""	""	"COL9A2(NM_001852.4):c.1162-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40304532G>A"	""	"likely benign"	""
"0000605756"	"0"	"50"	"1"	"40773427"	"40773427"	"subst"	"8.13213E-6"	"02327"	"COL9A2_000089"	"g.40773427C>G"	""	""	""	""	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40307755C>G"	""	"VUS"	""
"0000605757"	"0"	"30"	"1"	"40775806"	"40775806"	"subst"	"8.12209E-6"	"01943"	"COL9A2_000090"	"g.40775806C>T"	""	""	""	"COL9A2(NM_001852.4):c.769G>A (p.A257T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40310134C>T"	""	"likely benign"	""
"0000605758"	"0"	"30"	"1"	"40778294"	"40778294"	"subst"	"0.000592698"	"02330"	"COL9A2_000094"	"g.40778294C>T"	""	""	""	"COL9A2(NM_001852.4):c.304-13G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40312622C>T"	""	"likely benign"	""
"0000605759"	"0"	"70"	"1"	"40781314"	"40781314"	"subst"	"0"	"01943"	"COL9A2_000095"	"g.40781314C>G"	""	""	""	"COL9A2(NM_001852.4):c.98G>C (p.G33A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40315642C>G"	""	"likely pathogenic"	""
"0000620628"	"0"	"50"	"1"	"40766942"	"40766942"	"subst"	"0.00212729"	"01943"	"COL9A2_000073"	"g.40766942G>A"	""	""	""	"COL9A2(NM_001852.3):c.1982C>T (p.(Pro661Leu)), COL9A2(NM_001852.4):c.1982C>T (p.P661L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40301270G>A"	""	"VUS"	""
"0000620629"	"0"	"50"	"1"	"40767006"	"40767006"	"subst"	"2.87685E-5"	"01943"	"COL9A2_000083"	"g.40767006G>A"	""	""	""	"COL9A2(NM_001852.4):c.1918C>T (p.R640*)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40301334G>A"	""	"VUS"	""
"0000620630"	"0"	"10"	"1"	"40776752"	"40776752"	"subst"	"0.173796"	"01943"	"COL9A2_000023"	"g.40776752C>A"	""	""	""	"COL9A2(NM_001852.4):c.630+13G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40311080C>A"	""	"benign"	""
"0000620631"	"0"	"50"	"1"	"40777738"	"40777738"	"subst"	"0"	"01943"	"COL9A2_000091"	"g.40777738C>A"	""	""	""	"COL9A2(NM_001852.4):c.410G>T (p.G137V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40312066C>A"	""	"VUS"	""
"0000620632"	"0"	"10"	"1"	"40777800"	"40777800"	"subst"	"0.297848"	"01943"	"COL9A2_000025"	"g.40777800T>G"	""	""	""	"COL9A2(NM_001852.4):c.364-16A>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40312128T>G"	""	"benign"	""
"0000620633"	"0"	"10"	"1"	"40778108"	"40778108"	"subst"	"0.00651001"	"02329"	"COL9A2_000092"	"g.40778108C>T"	""	""	""	"COL9A2(NM_001852.4):c.363+20G>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40312436C>T"	""	"benign"	""
"0000620634"	"0"	"50"	"1"	"40778259"	"40778259"	"subst"	"1.22031E-5"	"01943"	"COL9A2_000093"	"g.40778259G>A"	""	""	""	"COL9A2(NM_001852.4):c.326C>T (p.P109L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40312587G>A"	""	"VUS"	""
"0000647687"	"1"	"50"	"1"	"40766942"	"40766942"	"subst"	"0.00212729"	"03575"	"COL9A2_000073"	"g.40766942G>A"	"6/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"conflicting interpretations of pathogenicity; 6 heterozygous, no homozygous; {DB:CLININrs150687987}"	"Germline"	""	"rs150687987"	"0"	""	""	"g.40301270G>A"	""	"VUS"	""
"0000647688"	"1"	"30"	"1"	"40768344"	"40768344"	"subst"	"0.0375749"	"03575"	"COL9A2_000077"	"g.40768344C>T"	"190/2792 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"190 heterozygous; {DB:CLININrs3737821}"	"Germline"	""	"rs3737821"	"0"	""	""	"g.40302672C>T"	""	"likely benign"	""
"0000647689"	"1"	"30"	"1"	"40773150"	"40773150"	"subst"	"0.0307859"	"03575"	"COL9A2_000051"	"g.40773150G>A"	"229/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"229 heterozygous; {DB:CLININrs12077871}"	"Germline"	""	"rs12077871"	"0"	""	""	"g.40307478G>A"	""	"likely benign"	""
"0000647690"	"1"	"30"	"1"	"40775937"	"40775937"	"subst"	"0.0218248"	"03575"	"COL9A2_000022"	"g.40775937G>A"	"27/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"27 heterozygous, no homozygous; {DB:CLININrs2228565}"	"Germline"	""	"rs2228565"	"0"	""	""	"g.40310265G>A"	""	"likely benign"	""
"0000654034"	"0"	"50"	"1"	"40770041"	"40770041"	"subst"	"0"	"01943"	"COL9A2_000096"	"g.40770041G>A"	""	""	""	"COL9A2(NM_001852.4):c.1238C>T (p.P413L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40304369G>A"	""	"VUS"	""
"0000654035"	"0"	"10"	"1"	"40776934"	"40776934"	"subst"	"0.00187337"	"02330"	"COL9A2_000057"	"g.40776934T>C"	""	""	""	"COL9A2(NM_001852.4):c.544A>G (p.M182V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	"g.40311262T>C"	""	"benign"	""
"0000669017"	"3"	"30"	"1"	"40768344"	"40768344"	"subst"	"0.0375749"	"03575"	"COL9A2_000077"	"g.40768344C>T"	"4/2792 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"4 homozygous; {DB:CLININrs3737821}"	"Germline"	""	"rs3737821"	"0"	""	""	"g.40302672C>T"	""	"likely benign"	""
"0000669018"	"3"	"30"	"1"	"40773150"	"40773150"	"subst"	"0.0307859"	"03575"	"COL9A2_000051"	"g.40773150G>A"	"8/2795 individuals"	"{PMID:Narang 2020:32906206}, {DOI:Narang 2020:10.1002/humu.24102}"	""	""	"8 homozygous; {DB:CLININrs12077871}"	"Germline"	""	"rs12077871"	"0"	""	""	"g.40307478G>A"	""	"likely benign"	""
"0000675848"	"0"	"50"	"1"	"40766942"	"40766942"	"subst"	"4.09883E-6"	"01943"	"COL9A2_000072"	"g.40766942G>C"	""	""	""	"COL9A2(NM_001852.4):c.1982C>G (p.P661R, p.(Pro661Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000675849"	"0"	"50"	"1"	"40768311"	"40768311"	"subst"	"0"	"01804"	"COL9A2_000097"	"g.40768311C>T"	""	""	""	"COL9A2(NM_001852.3):c.1774G>A (p.(Gly592Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000675850"	"0"	"50"	"1"	"40768464"	"40768464"	"subst"	"0.000225013"	"01943"	"COL9A2_000098"	"g.40768464C>T"	""	""	""	"COL9A2(NM_001852.4):c.1621G>A (p.A541T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000675851"	"0"	"50"	"1"	"40775980"	"40775980"	"subst"	"2.84386E-5"	"01943"	"COL9A2_000099"	"g.40775980C>T"	""	""	""	"COL9A2(NM_001852.4):c.694G>A (p.G232S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000688168"	"0"	"30"	"1"	"40768332"	"40768332"	"subst"	"0.000185772"	"01943"	"COL9A2_000076"	"g.40768332C>A"	""	""	""	"COL9A2(NM_001852.4):c.1753G>T (p.V585L)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000688169"	"0"	"50"	"1"	"40769765"	"40769765"	"subst"	"5.99405E-6"	"01943"	"COL9A2_000100"	"g.40769765G>C"	""	""	""	"COL9A2(NM_001852.4):c.1294C>G (p.P432A)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000688170"	"0"	"30"	"1"	"40778463"	"40778463"	"subst"	"0.000342011"	"01943"	"COL9A2_000062"	"g.40778463A>G"	""	""	""	"COL9A2(NM_001852.3):c.250-7T>C (p.(=)), COL9A2(NM_001852.4):c.250-7T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000688171"	"0"	"30"	"1"	"40780067"	"40780067"	"subst"	"0.000263955"	"01943"	"COL9A2_000064"	"g.40780067A>G"	""	""	""	"COL9A2(NM_001852.4):c.151-8T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717486"	"0"	"50"	"1"	"40766942"	"40766942"	"subst"	"4.09883E-6"	"02329"	"COL9A2_000072"	"g.40766942G>C"	""	""	""	"COL9A2(NM_001852.4):c.1982C>G (p.P661R, p.(Pro661Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000717487"	"0"	"30"	"1"	"40770480"	"40770480"	"subst"	"4.70924E-5"	"01943"	"COL9A2_000101"	"g.40770480T>C"	""	""	""	"COL9A2(NM_001852.4):c.1147A>G (p.I383V)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717488"	"0"	"50"	"1"	"40776902"	"40776902"	"subst"	"2.84377E-5"	"01804"	"COL9A2_000102"	"g.40776902C>T"	""	""	""	"COL9A2(NM_001852.3):c.576G>A (p.(=))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000717489"	"0"	"30"	"1"	"40781317"	"40781317"	"subst"	"0.000690299"	"01804"	"COL9A2_000032"	"g.40781317C>T"	""	""	""	"COL9A2(NM_001852.3):c.95G>A (p.(Arg32Gln)), COL9A2(NM_001852.4):c.95G>A (p.R32Q)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000717490"	"0"	"30"	"1"	"40782860"	"40782860"	"subst"	"0"	"01943"	"COL9A2_000103"	"g.40782860C>T"	""	""	""	"COL9A2(NM_001852.4):c.10G>A (p.A4T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000799353"	"0"	"30"	"1"	"40766959"	"40766959"	"subst"	"0"	"01943"	"COL9A2_000104"	"g.40766959T>C"	""	""	""	"COL9A2(NM_001852.4):c.1965A>G (p.P655=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000799354"	"0"	"50"	"1"	"40771440"	"40771440"	"subst"	"2.03505E-5"	"01943"	"COL9A2_000105"	"g.40771440C>A"	""	""	""	"COL9A2(NM_001852.4):c.1054G>T (p.G352C)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000799355"	"0"	"10"	"1"	"40773149"	"40773149"	"subst"	"0.302795"	"01943"	"COL9A2_000018"	"g.40773149T>C"	""	""	""	"COL9A2(NM_001852.4):c.977A>G (p.Q326R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000799356"	"0"	"30"	"1"	"40775640"	"40775640"	"subst"	"1.62466E-5"	"01943"	"COL9A2_000106"	"g.40775640C>T"	""	""	""	"COL9A2(NM_001852.4):c.816G>A (p.P272=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000799357"	"0"	"30"	"1"	"40776916"	"40776916"	"subst"	"0.000442859"	"02330"	"COL9A2_000056"	"g.40776916G>T"	""	""	""	"COL9A2(NM_001852.4):c.562C>A (p.L188M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848733"	"0"	"30"	"1"	"40766962"	"40766962"	"subst"	"0.000311214"	"01943"	"COL9A2_000039"	"g.40766962C>A"	""	""	""	"COL9A2(NM_001852.4):c.1962G>T (p.L654=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848734"	"0"	"30"	"1"	"40767533"	"40767533"	"subst"	"0"	"01943"	"COL9A2_000108"	"g.40767533T>C"	""	""	""	"COL9A2(NM_001852.4):c.1821A>G (p.G607=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848735"	"0"	"50"	"1"	"40773150"	"40773150"	"subst"	"4.06845E-6"	"01943"	"COL9A2_000109"	"g.40773150G>T"	""	""	""	"COL9A2(NM_001852.4):c.976C>A (p.Q326K)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000848736"	"0"	"30"	"1"	"40777234"	"40777234"	"subst"	"2.03044E-5"	"02330"	"COL9A2_000111"	"g.40777234G>A"	""	""	""	"COL9A2(NM_001852.4):c.472-15C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000848737"	"0"	"50"	"1"	"40781270"	"40781270"	"subst"	"2.0261E-5"	"01943"	"COL9A2_000113"	"g.40781270C>G"	""	""	""	"COL9A2(NM_001852.4):c.142G>C (p.G48R)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000848738"	"0"	"30"	"1"	"40782801"	"40782801"	"subst"	"0"	"02330"	"COL9A2_000114"	"g.40782801C>A"	""	""	""	"COL9A2(NM_001852.4):c.69G>T (p.A23=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857492"	"0"	"30"	"1"	"40767475"	"40767475"	"subst"	"0.000858904"	"02330"	"COL9A2_000107"	"g.40767475A>G"	""	""	""	"COL9A2(NM_001852.4):c.1870+9T>C"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000857493"	"0"	"50"	"1"	"40775800"	"40775800"	"subst"	"0.000292383"	"01943"	"COL9A2_000110"	"g.40775800C>T"	""	""	""	"COL9A2(NM_001852.4):c.775G>A (p.G259S)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000857494"	"0"	"10"	"1"	"40775937"	"40775937"	"subst"	"0.0218248"	"01943"	"COL9A2_000022"	"g.40775937G>A"	""	""	""	"COL9A2(NM_001852.3):c.737C>T (p.(Thr246Met)), COL9A2(NM_001852.4):c.737C>T (p.T246M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"benign"	""
"0000857495"	"0"	"30"	"1"	"40779952"	"40779952"	"subst"	"0"	"02330"	"COL9A2_000112"	"g.40779952G>T"	""	""	""	"COL9A2(NM_001852.4):c.187-13C>A"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000874461"	"0"	"90"	"1"	"40780024"	"40780024"	"subst"	"8.12137E-6"	"03779"	"COL9A2_000003"	"g.40780024C>T"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs1085307973"	"0"	""	""	""	""	"pathogenic"	""
"0000883451"	"0"	"30"	"1"	"40768422"	"40768422"	"subst"	"0"	"01804"	"COL9A2_000115"	"g.40768422T>C"	""	""	""	"COL9A2(NM_001852.3):c.1663A>G (p.(Met555Val))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000883452"	"0"	"50"	"1"	"40769513"	"40769513"	"subst"	"0"	"01804"	"COL9A2_000007"	"g.40769513T>C"	""	""	""	"COL9A2(NM_001852.3):c.1369-2A>G (p.?)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000923187"	"0"	"30"	"1"	"40770204"	"40770204"	"subst"	"0.000256216"	"02330"	"COL9A2_000088"	"g.40770204G>A"	""	""	""	"COL9A2(NM_001852.4):c.1162-3C>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000923188"	"0"	"30"	"1"	"40778273"	"40778273"	"subst"	"0.000529389"	"02330"	"COL9A2_000116"	"g.40778273G>A"	""	""	""	"COL9A2(NM_001852.4):c.312C>T (p.P104=)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000973957"	"0"	"50"	"1"	"40766942"	"40766942"	"subst"	"4.09883E-6"	"01804"	"COL9A2_000072"	"g.40766942G>C"	""	""	""	"COL9A2(NM_001852.4):c.1982C>G (p.P661R, p.(Pro661Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973958"	"0"	"50"	"1"	"40767520"	"40767520"	"subst"	"0.000349844"	"01804"	"COL9A2_000084"	"g.40767520C>T"	""	""	""	"COL9A2(NM_001852.4):c.1834G>A (p.G612R, p.(Gly612Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973959"	"0"	"50"	"1"	"40768449"	"40768449"	"subst"	"1.28338E-5"	"01804"	"COL9A2_000117"	"g.40768449G>A"	""	""	""	"COL9A2(NM_001852.4):c.1636C>T (p.(Arg546Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973960"	"0"	"50"	"1"	"40777772"	"40777772"	"subst"	"0.000126206"	"01804"	"COL9A2_000118"	"g.40777772G>T"	""	""	""	"COL9A2(NM_001852.4):c.376C>A (p.(Pro126Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000973961"	"0"	"50"	"1"	"40781261"	"40781261"	"subst"	"0"	"01804"	"COL9A2_000119"	"g.40781261C>A"	""	""	""	"COL9A2(NM_001852.4):c.150+1G>T"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000989626"	"0"	"90"	"1"	"40779895"	"40779895"	"subst"	"2.43639E-5"	"00006"	"COL9A2_000120"	"g.40779895G>T"	""	"{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}"	""	"COL9A2 231C>A"	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.40314223G>T"	""	"pathogenic"	""
"0000991274"	"0"	"30"	"1"	"40766943"	"40766943"	"subst"	"0.00673242"	"01804"	"COL9A2_000082"	"g.40766943G>T"	""	""	""	"COL9A2(NM_001852.3):c.1981C>A (p.(Pro661Thr)), COL9A2(NM_001852.4):c.1981C>A (p.P661T)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000991275"	"0"	"50"	"1"	"40767511"	"40767511"	"subst"	"8.95292E-5"	"01804"	"COL9A2_000121"	"g.40767511C>T"	""	""	""	"COL9A2(NM_001852.3):c.1843G>A (p.(Gly615Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991276"	"0"	"50"	"1"	"40768332"	"40768332"	"subst"	"7.07702E-5"	"01804"	"COL9A2_000122"	"g.40768332C>T"	""	""	""	"COL9A2(NM_001852.3):c.1753G>A (p.(Val585Met))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991277"	"0"	"30"	"1"	"40768449"	"40768449"	"subst"	"2.56677E-5"	"01804"	"COL9A2_000086"	"g.40768449G>C"	""	""	""	"COL9A2(NM_001852.3):c.1636C>G (p.(Arg546Gly)), COL9A2(NM_001852.4):c.1636C>G (p.R546G)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000991278"	"0"	"50"	"1"	"40769623"	"40769623"	"subst"	"0"	"01804"	"COL9A2_000123"	"g.40769623G>A"	""	""	""	"COL9A2(NM_001852.3):c.1345C>T (p.(Leu449Phe))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991279"	"0"	"50"	"1"	"40775617"	"40775617"	"subst"	"0"	"01804"	"COL9A2_000124"	"g.40775617C>T"	""	""	""	"COL9A2(NM_001852.3):c.839G>A (p.(Gly280Asp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991280"	"0"	"30"	"1"	"40775788"	"40775788"	"subst"	"0"	"01804"	"COL9A2_000125"	"g.40775788G>T"	""	""	""	"COL9A2(NM_001852.3):c.787C>A (p.(Pro263Thr))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000991281"	"0"	"30"	"1"	"40776386"	"40776386"	"subst"	"0"	"01804"	"COL9A2_000126"	"g.40776386C>T"	""	""	""	"COL9A2(NM_001852.3):c.684G>A (p.(Pro228Pro))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000991282"	"0"	"50"	"1"	"40776388"	"40776388"	"subst"	"4.04751E-5"	"01804"	"COL9A2_000127"	"g.40776388G>A"	""	""	""	"COL9A2(NM_001852.3):c.682C>T (p.(Pro228Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0000991283"	"0"	"30"	"1"	"40776766"	"40776766"	"subst"	"0.000138125"	"01804"	"COL9A2_000128"	"g.40776766G>A"	""	""	""	"COL9A2(NM_001852.3):c.629C>T (p.(Pro210Leu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0000991284"	"0"	"50"	"1"	"40779909"	"40779909"	"subst"	"2.84243E-5"	"01804"	"COL9A2_000129"	"g.40779909G>A"	""	""	""	"COL9A2(NM_001852.3):c.217C>T (p.(Pro73Ser))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001011146"	"0"	"50"	"1"	"40779895"	"40779895"	"subst"	"2.43639E-5"	"00006"	"COL9A2_000120"	"g.40779895G>T"	""	"{PMID:Rots 2024:39013459}, {DOI:Rots 2024:10.1016/j.ajhg.2024.06.009}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.40314223G>T"	""	"VUS"	""
"0001013321"	"0"	"50"	"1"	"40766952"	"40766952"	"subst"	"4.12483E-6"	"02325"	"COL9A2_000130"	"g.40766952C>T"	""	""	""	"COL9A2(NM_001852.4):c.1972G>A (p.V658M)"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001020265"	"0"	"50"	"1"	"40767520"	"40767520"	"subst"	"0.000349844"	"03779"	"COL9A2_000084"	"g.40767520C>T"	""	""	""	""	""	"CLASSIFICATION record"	""	"rs142151614"	"0"	""	""	""	""	"VUS"	""
"0001032043"	"0"	"30"	"1"	"40773178"	"40773178"	"subst"	"0"	"01804"	"COL9A2_000131"	"g.40773178T>C"	""	""	""	"COL9A2(NM_001852.4):c.955-7A>G"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"likely benign"	""
"0001032044"	"0"	"50"	"1"	"40773898"	"40773898"	"subst"	"0"	"01804"	"COL9A2_000132"	"g.40773898C>T"	""	""	""	"COL9A2(NM_001852.4):c.866G>A (p.(Gly289Glu))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032045"	"0"	"50"	"1"	"40775660"	"40775660"	"subst"	"0"	"01804"	"COL9A2_000133"	"g.40775660C>T"	""	""	""	"COL9A2(NM_001852.4):c.796G>A (p.(Glu266Lys))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032046"	"0"	"50"	"1"	"40779894"	"40779894"	"subst"	"3.24865E-5"	"01804"	"COL9A2_000029"	"g.40779894C>T"	""	""	""	"COL9A2(NM_001852.4):c.232G>A (p.G78R, p.(Gly78Arg))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001032047"	"0"	"50"	"1"	"40781318"	"40781318"	"subst"	"0"	"01804"	"COL9A2_000134"	"g.40781318G>A"	""	""	""	"COL9A2(NM_001852.4):c.94C>T (p.(Arg32Trp))"	"VKGL data sharing initiative Nederland"	"CLASSIFICATION record"	""	""	""	""	""	""	""	"VUS"	""
"0001048170"	"0"	"10"	"1"	"40767520"	"40767520"	"subst"	"0.000349844"	"00006"	"COL9A2_000084"	"g.40767520C>T"	""	"{PMID:Plachy 2019:30753492}"	""	""	""	"Germline/De novo (untested)"	""	""	"0"	""	""	"g.40301848C>T"	""	"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 COL9A2
## Count = 188
"{{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}}"
"0000250185"	"00005482"	"10"	"1793"	"-17"	"1793"	"-17"	"c.1793-17T>C"	"r.(=)"	"p.(=)"	""
"0000250186"	"00005482"	"10"	"1161"	"10"	"1161"	"10"	"c.1161+10T>A"	"r.(=)"	"p.(=)"	""
"0000250187"	"00005482"	"10"	"738"	"10"	"738"	"10"	"c.738+10T>C"	"r.(=)"	"p.(=)"	""
"0000264951"	"00005482"	"10"	"1053"	"7"	"1053"	"7"	"c.1053+7C>T"	"r.(=)"	"p.(=)"	""
"0000264952"	"00005482"	"10"	"1365"	"0"	"1365"	"0"	"c.1365G>A"	"r.(?)"	"p.(Glu455=)"	""
"0000264954"	"00005482"	"50"	"1753"	"0"	"1753"	"0"	"c.1753G>T"	"r.(?)"	"p.(Val585Leu)"	""
"0000264955"	"00005482"	"50"	"1858"	"0"	"1858"	"0"	"c.1858C>T"	"r.(?)"	"p.(Pro620Ser)"	""
"0000264957"	"00005482"	"30"	"1982"	"0"	"1982"	"0"	"c.1982C>T"	"r.(?)"	"p.(Pro661Leu)"	""
"0000264958"	"00005482"	"10"	"225"	"0"	"225"	"0"	"c.225G>C"	"r.(?)"	"p.(Gly75=)"	""
"0000264959"	"00005482"	"30"	"232"	"0"	"232"	"0"	"c.232G>A"	"r.(?)"	"p.(Gly78Arg)"	""
"0000264960"	"00005482"	"10"	"249"	"17"	"249"	"17"	"c.249+17C>T"	"r.(=)"	"p.(=)"	""
"0000264961"	"00005482"	"50"	"583"	"0"	"583"	"0"	"c.583G>T"	"r.(?)"	"p.(Ala195Ser)"	""
"0000264962"	"00005482"	"10"	"942"	"0"	"942"	"0"	"c.942G>A"	"r.(?)"	"p.(Thr314=)"	""
"0000264963"	"00005482"	"10"	"95"	"0"	"95"	"0"	"c.95G>A"	"r.(?)"	"p.(Arg32Gln)"	""
"0000268508"	"00005482"	"10"	"1003"	"0"	"1003"	"0"	"c.1003C>G"	"r.(?)"	"p.(Leu335Val)"	""
"0000268509"	"00005482"	"10"	"1062"	"0"	"1062"	"0"	"c.1062G>A"	"r.(?)"	"p.(Pro354=)"	""
"0000268510"	"00005482"	"10"	"1288"	"-12"	"1288"	"-12"	"c.1288-12C>T"	"r.(=)"	"p.(=)"	""
"0000268511"	"00005482"	"10"	"1368"	"16"	"1368"	"16"	"c.1368+16A>G"	"r.(=)"	"p.(=)"	""
"0000268512"	"00005482"	"10"	"1548"	"17"	"1548"	"17"	"c.1548+17G>C"	"r.(=)"	"p.(=)"	""
"0000268514"	"00005482"	"10"	"1741"	"0"	"1741"	"0"	"c.1741G>A"	"r.(?)"	"p.(Val581Ile)"	""
"0000268515"	"00005482"	"10"	"2001"	"0"	"2001"	"0"	"c.2001C>T"	"r.(?)"	"p.(Ala667=)"	""
"0000268516"	"00005482"	"30"	"249"	"19"	"249"	"19"	"c.249+19G>A"	"r.(=)"	"p.(=)"	""
"0000268517"	"00005482"	"10"	"364"	"-16"	"364"	"-16"	"c.364-16A>C"	"r.(=)"	"p.(=)"	""
"0000268518"	"00005482"	"10"	"364"	"-20"	"364"	"-20"	"c.364-20A>G"	"r.(=)"	"p.(=)"	""
"0000268519"	"00005482"	"10"	"630"	"13"	"630"	"13"	"c.630+13G>T"	"r.(=)"	"p.(=)"	""
"0000268520"	"00005482"	"10"	"737"	"0"	"737"	"0"	"c.737C>T"	"r.(?)"	"p.(Thr246Met)"	""
"0000268521"	"00005482"	"10"	"955"	"-4"	"955"	"-4"	"c.955-4C>G"	"r.spl?"	"p.?"	""
"0000268522"	"00005482"	"10"	"977"	"0"	"977"	"0"	"c.977A>G"	"r.(?)"	"p.(Gln326Arg)"	""
"0000274310"	"00005482"	"30"	"1041"	"0"	"1041"	"0"	"c.1041C>T"	"r.(?)"	"p.(Gly347=)"	""
"0000320763"	"00005482"	"50"	"151"	"-2"	"151"	"-2"	"c.151-2A>C"	"r.spl?"	"p.?"	""
"0000337982"	"00005482"	"10"	"1792"	"17"	"1792"	"17"	"c.1792+17G>A"	"r.(=)"	"p.(=)"	""
"0000337983"	"00005482"	"10"	"1368"	"16"	"1368"	"16"	"c.1368+16A>G"	"r.(=)"	"p.(=)"	""
"0000337984"	"00005482"	"10"	"1288"	"-12"	"1288"	"-12"	"c.1288-12C>T"	"r.(=)"	"p.(=)"	""
"0000337985"	"00005482"	"10"	"1161"	"10"	"1161"	"10"	"c.1161+10T>A"	"r.(=)"	"p.(=)"	""
"0000337986"	"00005482"	"10"	"955"	"-4"	"955"	"-4"	"c.955-4C>G"	"r.spl?"	"p.?"	""
"0000337987"	"00005482"	"10"	"792"	"16"	"792"	"16"	"c.792+16C>T"	"r.(=)"	"p.(=)"	""
"0000337988"	"00005482"	"10"	"738"	"10"	"738"	"10"	"c.738+10T>C"	"r.(=)"	"p.(=)"	""
"0000337989"	"00005482"	"10"	"630"	"13"	"630"	"13"	"c.630+13G>T"	"r.(=)"	"p.(=)"	""
"0000337990"	"00005482"	"10"	"364"	"-16"	"364"	"-16"	"c.364-16A>C"	"r.(=)"	"p.(=)"	""
"0000337991"	"00005482"	"10"	"364"	"-20"	"364"	"-20"	"c.364-20A>G"	"r.(=)"	"p.(=)"	""
"0000340024"	"00005482"	"10"	"1062"	"0"	"1062"	"0"	"c.1062G>A"	"r.(?)"	"p.(Pro354=)"	""
"0000345359"	"00005482"	"10"	"977"	"0"	"977"	"0"	"c.977A>G"	"r.(?)"	"p.(Gln326Arg)"	""
"0000346048"	"00005482"	"50"	"1171"	"0"	"1171"	"0"	"c.1171G>A"	"r.(?)"	"p.(Gly391Ser)"	""
"0000347112"	"00005482"	"10"	"1003"	"0"	"1003"	"0"	"c.1003C>G"	"r.(?)"	"p.(Leu335Val)"	""
"0000350598"	"00005482"	"10"	"1741"	"0"	"1741"	"0"	"c.1741G>A"	"r.(?)"	"p.(Val581Ile)"	""
"0000351172"	"00005482"	"10"	"364"	"-8"	"364"	"-8"	"c.364-8C>T"	"r.(=)"	"p.(=)"	""
"0000438695"	"00005482"	"90"	"98"	"0"	"98"	"0"	"c.98del"	"r.(?)"	"p.(Gly33Alafs*53)"	""
"0000438696"	"00005482"	"90"	"1692"	"0"	"1717"	"0"	"c.1692_1717del"	"r.(?)"	"p.(Gly565Trpfs*32)"	""
"0000438697"	"00005482"	"90"	"1692"	"0"	"1717"	"0"	"c.1692_1717del"	"r.(?)"	"p.(Gly565Trpfs*32)"	""
"0000507414"	"00005482"	"50"	"1982"	"0"	"1982"	"0"	"c.1982C>T"	"r.(?)"	"p.(Pro661Leu)"	""
"0000507415"	"00005482"	"10"	"1962"	"0"	"1962"	"0"	"c.1962G>T"	"r.(?)"	"p.(Leu654=)"	""
"0000507416"	"00005482"	"30"	"1871"	"-8"	"1871"	"-8"	"c.1871-8G>T"	"r.(=)"	"p.(=)"	""
"0000507417"	"00005482"	"50"	"1824"	"0"	"1824"	"0"	"c.1824A>G"	"r.(?)"	"p.(Glu608=)"	""
"0000507418"	"00005482"	"30"	"1824"	"0"	"1824"	"0"	"c.1824A>G"	"r.(?)"	"p.(Glu608=)"	""
"0000507419"	"00005482"	"10"	"1793"	"-17"	"1793"	"-17"	"c.1793-17T>C"	"r.(=)"	"p.(=)"	""
"0000507420"	"00005482"	"30"	"1741"	"0"	"1741"	"0"	"c.1741G>A"	"r.(?)"	"p.(Val581Ile)"	""
"0000507422"	"00005482"	"10"	"1604"	"-10"	"1604"	"-3"	"c.1604-10_1604-3del"	"r.spl?"	"p.?"	""
"0000507423"	"00005482"	"10"	"1604"	"-6"	"1604"	"-3"	"c.1604-6_1604-3dup"	"r.spl?"	"p.?"	""
"0000507424"	"00005482"	"10"	"1604"	"-6"	"1604"	"-3"	"c.1604-6_1604-3dup"	"r.spl?"	"p.?"	""
"0000507425"	"00005482"	"30"	"1551"	"0"	"1551"	"0"	"c.1551C>T"	"r.(?)"	"p.(Gly517=)"	""
"0000507426"	"00005482"	"10"	"1368"	"12"	"1368"	"12"	"c.1368+12G>A"	"r.(=)"	"p.(=)"	""
"0000507427"	"00005482"	"10"	"1287"	"14"	"1287"	"14"	"c.1287+14C>A"	"r.(=)"	"p.(=)"	""
"0000507428"	"00005482"	"10"	"1150"	"0"	"1150"	"0"	"c.1150A>C"	"r.(?)"	"p.(Met384Leu)"	""
"0000507429"	"00005482"	"50"	"1138"	"0"	"1138"	"0"	"c.1138C>T"	"r.(?)"	"p.(Pro380Ser)"	""
"0000507430"	"00005482"	"30"	"1007"	"0"	"1007"	"0"	"c.1007C>A"	"r.(?)"	"p.(Ala336Glu)"	""
"0000507431"	"00005482"	"30"	"976"	"0"	"976"	"0"	"c.976C>T"	"r.(?)"	"p.(Gln326Ter)"	""
"0000507432"	"00005482"	"30"	"955"	"-4"	"955"	"-4"	"c.955-4C>G"	"r.spl?"	"p.?"	""
"0000507433"	"00005482"	"50"	"919"	"0"	"919"	"0"	"c.919G>A"	"r.(?)"	"p.(Gly307Ser)"	""
"0000507434"	"00005482"	"10"	"847"	"-8"	"847"	"-8"	"c.847-8C>T"	"r.(=)"	"p.(=)"	""
"0000507435"	"00005482"	"50"	"815"	"0"	"815"	"0"	"c.815C>T"	"r.(?)"	"p.(Pro272Leu)"	""
"0000507436"	"00005482"	"10"	"792"	"16"	"792"	"16"	"c.792+16C>T"	"r.(=)"	"p.(=)"	""
"0000507437"	"00005482"	"50"	"766"	"0"	"766"	"0"	"c.766G>A"	"r.(?)"	"p.(Gly256Ser)"	""
"0000507438"	"00005482"	"30"	"737"	"0"	"737"	"0"	"c.737C>T"	"r.(?)"	"p.(Thr246Met)"	""
"0000507439"	"00005482"	"30"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Leu188Met)"	""
"0000507440"	"00005482"	"10"	"544"	"0"	"544"	"0"	"c.544A>G"	"r.(?)"	"p.(Met182Val)"	""
"0000507441"	"00005482"	"30"	"404"	"0"	"404"	"0"	"c.404T>A"	"r.(?)"	"p.(Ile135Asn)"	""
"0000507442"	"00005482"	"30"	"364"	"-8"	"364"	"-8"	"c.364-8C>T"	"r.(=)"	"p.(=)"	""
"0000507443"	"00005482"	"10"	"364"	"-16"	"364"	"-16"	"c.364-16A>G"	"r.(=)"	"p.(=)"	""
"0000507444"	"00005482"	"30"	"363"	"19"	"363"	"19"	"c.363+19G>A"	"r.(=)"	"p.(=)"	""
"0000507445"	"00005482"	"10"	"304"	"-14"	"304"	"-14"	"c.304-14C>T"	"r.(=)"	"p.(=)"	""
"0000507446"	"00005482"	"10"	"250"	"-7"	"250"	"-7"	"c.250-7T>C"	"r.(=)"	"p.(=)"	""
"0000507447"	"00005482"	"30"	"250"	"-7"	"250"	"-7"	"c.250-7T>C"	"r.(=)"	"p.(=)"	""
"0000507448"	"00005482"	"50"	"232"	"0"	"232"	"0"	"c.232G>A"	"r.(?)"	"p.(Gly78Arg)"	""
"0000507449"	"00005482"	"90"	"186"	"2"	"186"	"2"	"c.186+2T>C"	"r.spl?"	"p.?"	""
"0000507450"	"00005482"	"10"	"151"	"-8"	"151"	"-8"	"c.151-8T>C"	"r.(=)"	"p.(=)"	""
"0000507451"	"00005482"	"30"	"150"	"8"	"150"	"8"	"c.150+8T>C"	"r.(=)"	"p.(=)"	""
"0000507452"	"00005482"	"30"	"95"	"0"	"95"	"0"	"c.95G>A"	"r.(?)"	"p.(Arg32Gln)"	""
"0000507453"	"00005482"	"10"	"31"	"0"	"31"	"0"	"c.31C>T"	"r.(?)"	"p.(Leu11Phe)"	""
"0000507454"	"00005482"	"10"	"31"	"0"	"31"	"0"	"c.31C>T"	"r.(?)"	"p.(Leu11Phe)"	""
"0000507455"	"00005482"	"50"	"22"	"0"	"22"	"0"	"c.22C>G"	"r.(?)"	"p.(Pro8Ala)"	""
"0000578423"	"00005482"	"95"	"186"	"0"	"186"	"0"	"c.186G>A"	"r.spl"	"p.del"	"3"
"0000578424"	"00005482"	"95"	"186"	"0"	"186"	"0"	"c.186G>A"	"r.spl"	"p.del"	"3"
"0000578425"	"00005482"	"95"	"186"	"0"	"186"	"0"	"c.186G>A"	"r.spl"	"p.del"	"3"
"0000578426"	"00005482"	"95"	"186"	"0"	"186"	"0"	"c.186G>C"	"r.spl?"	"p.(del)"	"3"
"0000578427"	"00005482"	"95"	"186"	"2"	"186"	"2"	"c.186+2T>C"	"r.151_186del"	"p.Gly51_Pro62del"	"3i"
"0000578428"	"00005482"	"95"	"186"	"2"	"186"	"2"	"c.186+2T>C"	"r.151_186del"	"p.Gly51_Pro62del"	"3i"
"0000578429"	"00005482"	"95"	"186"	"5"	"186"	"5"	"c.186+5G>C"	"r.spl?"	"p.(del)"	"3i"
"0000578430"	"00005482"	"95"	"186"	"6"	"186"	"6"	"c.186+6T>G"	"r.151_186del"	"p.Gly51_Pro62del"	"3i"
"0000578431"	"00005482"	"95"	"843"	"0"	"846"	"4"	"c.843_846+4del8"	"r.spl?"	"p.?"	"16"
"0000578432"	"00005482"	"95"	"976"	"0"	"977"	"0"	"c.976_977inv"	"r.(?)"	"p.(Gln326Trp)"	"19"
"0000578433"	"00005482"	"95"	"1369"	"-2"	"1369"	"-2"	"c.1369-2A>G"	"r.1368_1369ins1368+1_1369-1{1369-2a>c}"	"p.fs*"	"26i"
"0000604340"	"00005482"	"50"	"1310"	"0"	"1310"	"0"	"c.1310C>G"	"r.(?)"	"p.(Pro437Arg)"	""
"0000604341"	"00005482"	"70"	"1506"	"0"	"1506"	"0"	"c.1506del"	"r.(?)"	"p.(Asn503Thrfs*28)"	""
"0000605749"	"00005482"	"30"	"1981"	"0"	"1981"	"0"	"c.1981C>A"	"r.(?)"	"p.(Pro661Thr)"	""
"0000605750"	"00005482"	"50"	"1834"	"0"	"1834"	"0"	"c.1834G>A"	"r.(?)"	"p.(Gly612Arg)"	""
"0000605751"	"00005482"	"30"	"1761"	"0"	"1761"	"0"	"c.1761C>T"	"r.(?)"	"p.(Ala587=)"	""
"0000605752"	"00005482"	"50"	"1636"	"0"	"1636"	"0"	"c.1636C>G"	"r.(?)"	"p.(Arg546Gly)"	""
"0000605753"	"00005482"	"30"	"1604"	"-6"	"1604"	"-3"	"c.1604-6_1604-3dup"	"r.spl?"	"p.?"	""
"0000605754"	"00005482"	"10"	"1323"	"18"	"1323"	"18"	"c.1323+18T>G"	"r.(=)"	"p.(=)"	""
"0000605755"	"00005482"	"30"	"1162"	"-3"	"1162"	"-3"	"c.1162-3C>T"	"r.spl?"	"p.?"	""
"0000605756"	"00005482"	"50"	"902"	"0"	"902"	"0"	"c.902G>C"	"r.(?)"	"p.(Gly301Ala)"	""
"0000605757"	"00005482"	"30"	"769"	"0"	"769"	"0"	"c.769G>A"	"r.(?)"	"p.(Ala257Thr)"	""
"0000605758"	"00005482"	"30"	"304"	"-13"	"304"	"-13"	"c.304-13G>A"	"r.(=)"	"p.(=)"	""
"0000605759"	"00005482"	"70"	"98"	"0"	"98"	"0"	"c.98G>C"	"r.(?)"	"p.(Gly33Ala)"	""
"0000620628"	"00005482"	"50"	"1982"	"0"	"1982"	"0"	"c.1982C>T"	"r.(?)"	"p.(Pro661Leu)"	""
"0000620629"	"00005482"	"50"	"1918"	"0"	"1918"	"0"	"c.1918C>T"	"r.(?)"	"p.(Arg640Ter)"	""
"0000620630"	"00005482"	"10"	"630"	"13"	"630"	"13"	"c.630+13G>T"	"r.(=)"	"p.(=)"	""
"0000620631"	"00005482"	"50"	"410"	"0"	"410"	"0"	"c.410G>T"	"r.(?)"	"p.(Gly137Val)"	""
"0000620632"	"00005482"	"10"	"364"	"-16"	"364"	"-16"	"c.364-16A>C"	"r.(=)"	"p.(=)"	""
"0000620633"	"00005482"	"10"	"363"	"20"	"363"	"20"	"c.363+20G>A"	"r.(=)"	"p.(=)"	""
"0000620634"	"00005482"	"50"	"326"	"0"	"326"	"0"	"c.326C>T"	"r.(?)"	"p.(Pro109Leu)"	""
"0000647687"	"00005482"	"50"	"1982"	"0"	"1982"	"0"	"c.1982C>T"	"r.(?)"	"p.(Pro661Leu)"	""
"0000647688"	"00005482"	"30"	"1741"	"0"	"1741"	"0"	"c.1741G>A"	"r.(?)"	"p.(Val581Ile)"	""
"0000647689"	"00005482"	"30"	"976"	"0"	"976"	"0"	"c.976C>T"	"r.(?)"	"p.(Gln326*)"	""
"0000647690"	"00005482"	"30"	"737"	"0"	"737"	"0"	"c.737C>T"	"r.(?)"	"p.(Thr246Met)"	""
"0000654034"	"00005482"	"50"	"1238"	"0"	"1238"	"0"	"c.1238C>T"	"r.(?)"	"p.(Pro413Leu)"	""
"0000654035"	"00005482"	"10"	"544"	"0"	"544"	"0"	"c.544A>G"	"r.(?)"	"p.(Met182Val)"	""
"0000669017"	"00005482"	"30"	"1741"	"0"	"1741"	"0"	"c.1741G>A"	"r.(?)"	"p.(Val581Ile)"	""
"0000669018"	"00005482"	"30"	"976"	"0"	"976"	"0"	"c.976C>T"	"r.(?)"	"p.(Gln326*)"	""
"0000675848"	"00005482"	"50"	"1982"	"0"	"1982"	"0"	"c.1982C>G"	"r.(?)"	"p.(Pro661Arg)"	""
"0000675849"	"00005482"	"50"	"1774"	"0"	"1774"	"0"	"c.1774G>A"	"r.(?)"	"p.(Gly592Ser)"	""
"0000675850"	"00005482"	"50"	"1621"	"0"	"1621"	"0"	"c.1621G>A"	"r.(?)"	"p.(Ala541Thr)"	""
"0000675851"	"00005482"	"50"	"694"	"0"	"694"	"0"	"c.694G>A"	"r.(?)"	"p.(Gly232Ser)"	""
"0000688168"	"00005482"	"30"	"1753"	"0"	"1753"	"0"	"c.1753G>T"	"r.(?)"	"p.(Val585Leu)"	""
"0000688169"	"00005482"	"50"	"1294"	"0"	"1294"	"0"	"c.1294C>G"	"r.(?)"	"p.(Pro432Ala)"	""
"0000688170"	"00005482"	"30"	"250"	"-7"	"250"	"-7"	"c.250-7T>C"	"r.(=)"	"p.(=)"	""
"0000688171"	"00005482"	"30"	"151"	"-8"	"151"	"-8"	"c.151-8T>C"	"r.(=)"	"p.(=)"	""
"0000717486"	"00005482"	"50"	"1982"	"0"	"1982"	"0"	"c.1982C>G"	"r.(?)"	"p.(Pro661Arg)"	""
"0000717487"	"00005482"	"30"	"1147"	"0"	"1147"	"0"	"c.1147A>G"	"r.(?)"	"p.(Ile383Val)"	""
"0000717488"	"00005482"	"50"	"576"	"0"	"576"	"0"	"c.576G>A"	"r.(?)"	"p.(Lys192=)"	""
"0000717489"	"00005482"	"30"	"95"	"0"	"95"	"0"	"c.95G>A"	"r.(?)"	"p.(Arg32Gln)"	""
"0000717490"	"00005482"	"30"	"10"	"0"	"10"	"0"	"c.10G>A"	"r.(?)"	"p.(Ala4Thr)"	""
"0000799353"	"00005482"	"30"	"1965"	"0"	"1965"	"0"	"c.1965A>G"	"r.(?)"	"p.(Pro655=)"	""
"0000799354"	"00005482"	"50"	"1054"	"0"	"1054"	"0"	"c.1054G>T"	"r.(?)"	"p.(Gly352Cys)"	""
"0000799355"	"00005482"	"10"	"977"	"0"	"977"	"0"	"c.977A>G"	"r.(?)"	"p.(Gln326Arg)"	""
"0000799356"	"00005482"	"30"	"816"	"0"	"816"	"0"	"c.816G>A"	"r.(?)"	"p.(Pro272=)"	""
"0000799357"	"00005482"	"30"	"562"	"0"	"562"	"0"	"c.562C>A"	"r.(?)"	"p.(Leu188Met)"	""
"0000848733"	"00005482"	"30"	"1962"	"0"	"1962"	"0"	"c.1962G>T"	"r.(?)"	"p.(Leu654=)"	""
"0000848734"	"00005482"	"30"	"1821"	"0"	"1821"	"0"	"c.1821A>G"	"r.(?)"	"p.(Gly607=)"	""
"0000848735"	"00005482"	"50"	"976"	"0"	"976"	"0"	"c.976C>A"	"r.(?)"	"p.(Gln326Lys)"	""
"0000848736"	"00005482"	"30"	"472"	"-15"	"472"	"-15"	"c.472-15C>T"	"r.(=)"	"p.(=)"	""
"0000848737"	"00005482"	"50"	"142"	"0"	"142"	"0"	"c.142G>C"	"r.(?)"	"p.(Gly48Arg)"	""
"0000848738"	"00005482"	"30"	"69"	"0"	"69"	"0"	"c.69G>T"	"r.(?)"	"p.(Ala23=)"	""
"0000857492"	"00005482"	"30"	"1870"	"9"	"1870"	"9"	"c.1870+9T>C"	"r.(=)"	"p.(=)"	""
"0000857493"	"00005482"	"50"	"775"	"0"	"775"	"0"	"c.775G>A"	"r.(?)"	"p.(Gly259Ser)"	""
"0000857494"	"00005482"	"10"	"737"	"0"	"737"	"0"	"c.737C>T"	"r.(?)"	"p.(Thr246Met)"	""
"0000857495"	"00005482"	"30"	"187"	"-13"	"187"	"-13"	"c.187-13C>A"	"r.(=)"	"p.(=)"	""
"0000874461"	"00005482"	"90"	"186"	"0"	"186"	"0"	"c.186G>A"	"r.(?)"	"p.(Pro62=)"	""
"0000883451"	"00005482"	"30"	"1663"	"0"	"1663"	"0"	"c.1663A>G"	"r.(?)"	"p.(Met555Val)"	""
"0000883452"	"00005482"	"50"	"1369"	"-2"	"1369"	"-2"	"c.1369-2A>G"	"r.spl?"	"p.?"	""
"0000923187"	"00005482"	"30"	"1162"	"-3"	"1162"	"-3"	"c.1162-3C>T"	"r.spl?"	"p.?"	""
"0000923188"	"00005482"	"30"	"312"	"0"	"312"	"0"	"c.312C>T"	"r.(?)"	"p.(Pro104=)"	""
"0000973957"	"00005482"	"50"	"1982"	"0"	"1982"	"0"	"c.1982C>G"	"r.(?)"	"p.(Pro661Arg)"	""
"0000973958"	"00005482"	"50"	"1834"	"0"	"1834"	"0"	"c.1834G>A"	"r.(?)"	"p.(Gly612Arg)"	""
"0000973959"	"00005482"	"50"	"1636"	"0"	"1636"	"0"	"c.1636C>T"	"r.(?)"	"p.(Arg546Trp)"	""
"0000973960"	"00005482"	"50"	"376"	"0"	"376"	"0"	"c.376C>A"	"r.(?)"	"p.(Pro126Thr)"	""
"0000973961"	"00005482"	"50"	"150"	"1"	"150"	"1"	"c.150+1G>T"	"r.spl?"	"p.?"	""
"0000989626"	"00005482"	"90"	"231"	"0"	"231"	"0"	"c.231C>A"	"r.(?)"	"p.(Asp77Glu)"	""
"0000991274"	"00005482"	"30"	"1981"	"0"	"1981"	"0"	"c.1981C>A"	"r.(?)"	"p.(Pro661Thr)"	""
"0000991275"	"00005482"	"50"	"1843"	"0"	"1843"	"0"	"c.1843G>A"	"r.(?)"	"p.(Gly615Arg)"	""
"0000991276"	"00005482"	"50"	"1753"	"0"	"1753"	"0"	"c.1753G>A"	"r.(?)"	"p.(Val585Met)"	""
"0000991277"	"00005482"	"30"	"1636"	"0"	"1636"	"0"	"c.1636C>G"	"r.(?)"	"p.(Arg546Gly)"	""
"0000991278"	"00005482"	"50"	"1345"	"0"	"1345"	"0"	"c.1345C>T"	"r.(?)"	"p.(Leu449Phe)"	""
"0000991279"	"00005482"	"50"	"839"	"0"	"839"	"0"	"c.839G>A"	"r.(?)"	"p.(Gly280Asp)"	""
"0000991280"	"00005482"	"30"	"787"	"0"	"787"	"0"	"c.787C>A"	"r.(?)"	"p.(Pro263Thr)"	""
"0000991281"	"00005482"	"30"	"684"	"0"	"684"	"0"	"c.684G>A"	"r.(?)"	"p.(=)"	""
"0000991282"	"00005482"	"50"	"682"	"0"	"682"	"0"	"c.682C>T"	"r.(?)"	"p.(Pro228Ser)"	""
"0000991283"	"00005482"	"30"	"629"	"0"	"629"	"0"	"c.629C>T"	"r.(?)"	"p.(Pro210Leu)"	""
"0000991284"	"00005482"	"50"	"217"	"0"	"217"	"0"	"c.217C>T"	"r.(?)"	"p.(Pro73Ser)"	""
"0001011146"	"00005482"	"50"	"231"	"0"	"231"	"0"	"c.231C>A"	"r.(?)"	"p.(Asp77Glu)"	""
"0001013321"	"00005482"	"50"	"1972"	"0"	"1972"	"0"	"c.1972G>A"	"r.(?)"	"p.(Val658Met)"	""
"0001020265"	"00005482"	"50"	"1834"	"0"	"1834"	"0"	"c.1834G>A"	"r.(?)"	"p.(Gly612Arg)"	""
"0001032043"	"00005482"	"30"	"955"	"-7"	"955"	"-7"	"c.955-7A>G"	"r.(=)"	"p.(=)"	""
"0001032044"	"00005482"	"50"	"866"	"0"	"866"	"0"	"c.866G>A"	"r.(?)"	"p.(Gly289Glu)"	""
"0001032045"	"00005482"	"50"	"796"	"0"	"796"	"0"	"c.796G>A"	"r.(?)"	"p.(Glu266Lys)"	""
"0001032046"	"00005482"	"50"	"232"	"0"	"232"	"0"	"c.232G>A"	"r.(?)"	"p.(Gly78Arg)"	""
"0001032047"	"00005482"	"50"	"94"	"0"	"94"	"0"	"c.94C>T"	"r.(?)"	"p.(Arg32Trp)"	""
"0001048170"	"00005482"	"10"	"1834"	"0"	"1834"	"0"	"c.1834G>A"	"r.(?)"	"p.(Gly612Arg)"	""


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 25
"{{screeningid}}"	"{{variantid}}"
"0000208744"	"0000438695"
"0000208745"	"0000438696"
"0000208746"	"0000438697"
"0000249614"	"0000578432"
"0000249615"	"0000578426"
"0000249616"	"0000578423"
"0000249617"	"0000578424"
"0000249618"	"0000578425"
"0000249619"	"0000578429"
"0000249620"	"0000578427"
"0000249621"	"0000578428"
"0000249622"	"0000578433"
"0000249623"	"0000578430"
"0000249624"	"0000578431"
"0000270570"	"0000604340"
"0000270570"	"0000604341"
"0000290998"	"0000647687"
"0000290999"	"0000647688"
"0000291000"	"0000647689"
"0000291001"	"0000647690"
"0000305329"	"0000669017"
"0000305330"	"0000669018"
"0000454665"	"0000989626"
"0000454698"	"0001011146"
"0000468348"	"0001048170"