### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ###
## Filter: (gene_public = JAK2)
# 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}}"
"JAK2"	"Janus kinase 2"	"9"	"p24.1"	"unknown"	"LRG_612"	"UD_144538289869"	""	""	""	"1"	"6192"	"3717"	"147796"	"1"	"1"	"1"	"1"	""	""	""	""	"1"	""	""	"-1"	""	"-1"	"00001"	"2021-05-30 15:57:03"	""	""	"00006"	"2021-08-01 13:15:11"


## Transcripts ## Do not remove or alter this header ##
## Count = 7
"{{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}}"
"00000660"	"JAK2"	"transcript variant 1"	"005"	"NM_004972.4"	""	"NP_004963.1"	""	""	""	"-467"	"6556"	"3399"	"4985272"	"5129948"	"00001"	"2021-05-30 15:57:03"	""	""
"00000661"	"JAK2"	"transcript variant 2"	"003"	"NM_001322194.2"	""	"NP_001309123.1"	""	""	""	"-595"	"6556"	"3399"	"4985086"	"5129948"	"00001"	"2021-05-30 15:57:03"	""	""
"00000662"	"JAK2"	"transcript variant 3"	"004"	"NM_001322195.2"	""	"NP_001309124.1"	""	""	""	"-113"	"6556"	"3399"	"4985086"	"5129948"	"00001"	"2021-05-30 15:57:03"	""	""
"00000663"	"JAK2"	"transcript variant 4"	"007"	"NM_001322196.2"	""	"NP_001309125.1"	""	""	""	"-384"	"6556"	"3399"	"4985272"	"5129948"	"00001"	"2021-05-30 15:57:03"	""	""
"00000664"	"JAK2"	"transcript variant 5"	"009"	"NM_001322204.2"	""	"NP_001309133.1"	""	""	""	"-473"	"6109"	"2952"	"5041532"	"5129948"	"00001"	"2021-05-30 15:57:03"	""	""
"00000665"	"JAK2"	"transcript variant 6"	"006"	"NM_001322198.2"	""	"NP_001309127.1"	""	""	""	"-1587"	"5341"	"2184"	"4985272"	"5129948"	"00001"	"2021-05-30 15:57:03"	""	""
"00000666"	"JAK2"	"transcript variant 7"	"008"	"NM_001322199.2"	""	"NP_001309128.1"	""	""	""	"-1529"	"5341"	"2184"	"4985272"	"5129948"	"00001"	"2021-05-30 15:57:03"	""	""


## Diseases ## Do not remove or alter this header ##
## Count = 2
"{{id}}"	"{{symbol}}"	"{{name}}"	"{{inheritance}}"	"{{id_omim}}"	"{{tissues}}"	"{{features}}"	"{{remarks}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"
"00127"	"MPN"	"Myeloproliferative Neoplasms"	"AD"	""	""	""	""	"00001"	"2021-05-30 15:55:01"	""	""
"00158"	"COPD"	"Chronic Obstructive Pulmonary Disease"	""	"606963"	""	""	""	"00001"	"2021-07-15 10:42:43"	""	""


## Genes_To_Diseases ## Do not remove or alter this header ##
## Count = 2
"{{geneid}}"	"{{diseaseid}}"
"JAK2"	"00127"
"JAK2"	"00158"


## Individuals ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{fatherid}}"	"{{motherid}}"	"{{panelid}}"	"{{panel_size}}"	"{{license}}"	"{{owned_by}}"	"{{Individual/Reference}}"	"{{Individual/Remarks}}"	"{{Individual/Remarks_Non_Public}}"	"{{Individual/Origin/Geographic}}"	"{{Individual/Origin/Ethnic}}"	"{{Individual/Origin/Population}}"	"{{Individual/Gender}}"
"00000658"	""	""	""	"1"	""	"00004"	"{PMID:Yee Yee Yap et al.(2018):30564475}"	""	""	"Malaysia"	"Malay"	""	""
"00000725"	""	""	""	"1"	""	"00004"	"{PMID:Yee Yee Yap et al.(2018):30564475}"	""	""	"Malaysia"	"Chinese"	""	""
"00000726"	""	""	""	"1"	""	"00004"	"{PMID:Yee Yee Yap et al.(2018):30564475}"	""	""	"Malaysia"	"Indian"	""	""
"00000727"	""	""	""	"1"	""	"00004"	"{PMID:Yee Yee Yap et al.(2018):30564475}"	""	""	"Malaysia"	"Native Sabah"	""	""
"00000728"	""	""	""	"1"	""	"00004"	"{PMID:Yee Yee Yap et al.(2018):30564475}"	""	""	"Malaysia"	"Native Sarawak"	""	""
"00000786"	""	""	""	"1"	""	"00004"	"{PMID:Rafidah Mahmud et al.(2020):32512984}"	""	""	"Malaysia"	""	""	"M"


## Individuals_To_Diseases ## Do not remove or alter this header ##
## Count = 6
"{{individualid}}"	"{{diseaseid}}"
"00000658"	"00127"
"00000725"	"00127"
"00000726"	"00127"
"00000727"	"00127"
"00000728"	"00127"
"00000786"	"00158"


## Phenotypes ## Do not remove or alter this header ##
## Note: Only showing Phenotype columns active for Diseases 00127, 00158
## Count = 0


## Screenings ## Do not remove or alter this header ##
## Count = 6
"{{id}}"	"{{individualid}}"	"{{variants_found}}"	"{{owned_by}}"	"{{created_by}}"	"{{created_date}}"	"{{edited_by}}"	"{{edited_date}}"	"{{Screening/Technique}}"	"{{Screening/Template}}"
"0000000725"	"00000658"	"1"	"00004"	"00004"	"2021-05-30 16:00:25"	""	""	"?"	"?"
"0000000819"	"00000725"	"1"	"00004"	"00004"	"2021-06-28 13:10:01"	""	""	"?"	"?"
"0000000820"	"00000726"	"1"	"00004"	"00004"	"2021-06-28 14:20:58"	""	""	"?"	"?"
"0000000821"	"00000727"	"1"	"00004"	"00004"	"2021-06-28 14:38:14"	""	""	"?"	"?"
"0000000822"	"00000728"	"1"	"00004"	"00004"	"2021-06-28 14:41:51"	""	""	"?"	"?"
"0000000880"	"00000786"	"1"	"00004"	"00004"	"2021-07-15 10:44:11"	""	""	"?"	"?"


## Screenings_To_Genes ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{geneid}}"
"0000000725"	"JAK2"
"0000000819"	"JAK2"
"0000000820"	"JAK2"
"0000000821"	"JAK2"
"0000000822"	"JAK2"
"0000000880"	"JAK2"


## 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 = 6
"{{id}}"	"{{allele}}"	"{{effectid}}"	"{{chromosome}}"	"{{position_g_start}}"	"{{position_g_end}}"	"{{type}}"	"{{average_frequency}}"	"{{owned_by}}"	"{{VariantOnGenome/DBID}}"	"{{VariantOnGenome/DNA}}"	"{{VariantOnGenome/Frequency}}"	"{{VariantOnGenome/Reference}}"	"{{VariantOnGenome/Published_as}}"	"{{VariantOnGenome/Remarks}}"	"{{VariantOnGenome/dbSNP}}"
"0000002820"	"0"	"90"	"9"	"93526"	"93526"	"subst"	"0"	"00004"	"JAK2_000001"	"g.93526G>T"	"310/644"	"{PMID:Yee Yee Yap et al.(2018):30564475}"	""	""	"rs77375493"
"0000002958"	"0"	"90"	"9"	"93526"	"93526"	"subst"	"0"	"00004"	"JAK2_000001"	"g.93526G>T"	"253/644"	"{PMID:Yee Yee Yap et al.(2018):30564475}"	""	""	"rs77375493"
"0000002959"	"0"	"90"	"9"	"93526"	"93526"	"subst"	"0"	"00004"	"JAK2_000001"	"g.93526G>T"	"32/644"	"{PMID:Yee Yee Yap et al.(2018):30564475}"	""	""	"rs77375493"
"0000002960"	"0"	"90"	"9"	"93526"	"93526"	"subst"	"0"	"00004"	"JAK2_000001"	"g.93526G>T"	"22/644"	"{PMID:Yee Yee Yap et al.(2018):30564475}"	""	""	"rs77375493"
"0000002961"	"0"	"90"	"9"	"93526"	"93526"	"subst"	"0"	"00004"	"JAK2_000001"	"g.93526G>T"	"13/644"	"{PMID:Yee Yee Yap et al.(2018):30564475}"	""	""	"rs77375493"
"0000003060"	"0"	"90"	"9"	"93526"	"93526"	"subst"	"0"	"00004"	"JAK2_000001"	"g.93526G>T"	""	"{PMID:Rafidah Mahmud et al.(2020):32512984}"	""	""	"rs77375493"


## 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 JAK2
## Count = 6
"{{id}}"	"{{transcriptid}}"	"{{effectid}}"	"{{position_c_start}}"	"{{position_c_start_intron}}"	"{{position_c_end}}"	"{{position_c_end_intron}}"	"{{VariantOnTranscript/DNA}}"	"{{VariantOnTranscript/Exon}}"	"{{VariantOnTranscript/Protein}}"	"{{VariantOnTranscript/RNA}}"	"{{VariantOnTranscript/Published_as}}"	"{{VariantOnTranscript/VariantOnTranscript}}"
"0000002820"	"00000660"	"90"	"1849"	"0"	"1849"	"0"	"c.1849G>T"	"12"	"p.(Val617Phe)"	"r.(?)"	"V617F"	"Pathogenic​"
"0000002958"	"00000660"	"90"	"1849"	"0"	"1849"	"0"	"c.1849G>T"	"12"	"p.(Val617Phe)"	"r.(?)"	"V617F"	"Pathogenic"
"0000002959"	"00000660"	"90"	"1849"	"0"	"1849"	"0"	"c.1849G>T"	"12"	"p.(Val617Phe)"	"r.(?)"	"V617F"	"Pathogenic"
"0000002960"	"00000660"	"90"	"1849"	"0"	"1849"	"0"	"c.1849G>T"	"12"	"p.(Val617Phe)"	"r.(?)"	"V617F"	"Pathogenic"
"0000002961"	"00000660"	"90"	"1849"	"0"	"1849"	"0"	"c.1849G>T"	"12"	"p.(Val617Phe)"	"r.(?)"	"V167F"	"Pahtogenic"
"0000003060"	"00000660"	"90"	"1849"	"0"	"1849"	"0"	"c.1849G>T"	""	"p.(Val617Phe)"	"r.(?)"	"V617F"	"Pathogenic"


## Screenings_To_Variants ## Do not remove or alter this header ##
## Count = 6
"{{screeningid}}"	"{{variantid}}"
"0000000725"	"0000002820"
"0000000819"	"0000002958"
"0000000820"	"0000002959"
"0000000821"	"0000002960"
"0000000822"	"0000002961"
"0000000880"	"0000003060"