### LOVD-version 3000-290 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ATG16L1) # 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}}" "ATG16L1" "autophagy related 16 like 1" "2" "q37.1" "unknown" "NG_023038.1" "UD_144409385559" "" "" "" "1" "21498" "55054" "610767" "1" "1" "1" "0" "" "" "" "" "1" "" "" "-1" "" "-1" "00001" "2020-12-20 15:16:03" "" "" "00005" "2021-08-30 09:34:31" ## 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}}" "00000073" "ATG16L1" "transcript variant 1" "001" "NM_030803.6" "" "NP_110430.5" "" "" "" "-257" "3148" "1824" "233251571" "233295674" "00001" "2020-12-20 15:16:30" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{inheritance}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00047" "CD" "Crohn\'s disease" "" "" "" "" "" "00001" "2020-12-20 15:06:49" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "ATG16L1" "00047" ## Individuals ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00000283" "" "" "" "1" "" "00002" "{PMID:Boon Pin Kee et al. (2020):31654602}" "" "" "Malaysia" "Malay" "" "" "00000284" "" "" "" "1" "" "00002" "{PMID:Boon Pin Kee et al. (2020):31654602}" "" "" "Malaysia" "Chinese" "" "" "00000285" "" "" "" "1" "" "00002" "{PMID:Boon Pin Kee et al. (2020):31654602}" "" "" "Malaysia" "Indian" "" "" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 3 "{{individualid}}" "{{diseaseid}}" "00000283" "00047" "00000284" "00047" "00000285" "00047" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00047 ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 3 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "0000000298" "00000283" "1" "00002" "00002" "2020-12-20 16:23:59" "" "" "TaqMan" "DNA" "0000000299" "00000284" "1" "00002" "00002" "2020-12-20 16:46:37" "" "" "TaqMan" "DNA" "0000000300" "00000285" "1" "00002" "00002" "2020-12-20 16:58:35" "" "" "TaqMan" "DNA" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 3 "{{screeningid}}" "{{geneid}}" "0000000298" "ATG16L1" "0000000299" "ATG16L1" "0000000300" "ATG16L1" ## 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 = 17 "{{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}}" "0000001363" "0" "90" "2" "233274722" "233274722" "subst" "0" "00002" "ATG16L1_000001" "g.233274722A>G" "11/20" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs2241880}, {OMIM:610767:0001}, {ClinVar:1130}" "" "" "rs2241880" "0000001364" "3" "90" "2" "233274722" "233274722" "subst" "0" "00002" "ATG16L1_000001" "g.233274722A>G" "5/20" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs2241880}, {OMIM:610767:0001}, {ClinVar:1130}" "" "" "rs2241880" "0000001365" "0" "90" "2" "233290815" "233290815" "subst" "0" "00002" "ATG16L1_000002" "g.233290815G>A" "8/20" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs6754677}" "" "" "rs6754677" "0000001366" "3" "90" "2" "233290815" "233290815" "subst" "0" "00002" "ATG16L1_000002" "g.233290815G>A" "8/20" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs6754677}" "" "" "rs6754677" "0000001367" "0" "90" "2" "233274722" "233274722" "subst" "0" "00002" "ATG16L1_000001" "g.233274722A>G" "14/27" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs2241880}, {OMIM:610767:0001}, {ClinVar:1130}" "" "" "rs2241880" "0000001368" "3" "90" "2" "233274722" "233274722" "subst" "0" "00002" "ATG16L1_000001" "g.233274722A>G" "1/27" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs2241880}, {OMIM:610767:0001}, {ClinVar:1130}" "" "" "rs2241880" "0000001369" "0" "90" "2" "233290815" "233290815" "subst" "0" "00002" "ATG16L1_000002" "g.233290815G>A" "15/27" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs6754677}" "" "" "rs6754677" "0000001370" "3" "90" "2" "233290815" "233290815" "subst" "0" "00002" "ATG16L1_000002" "g.233290815G>A" "4/27" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs6754677}" "" "" "rs6754677" "0000001371" "0" "90" "2" "233274722" "233274722" "subst" "0" "00002" "ATG16L1_000001" "g.233274722A>G" "22/38" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs2241880}, {OMIM:610767:0001}, {ClinVar:1130}" "" "" "rs2241880" "0000001372" "0" "90" "2" "233274722" "233274722" "subst" "0" "00002" "ATG16L1_000001" "g.233274722A>G" "11/38" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs2241880}, {OMIM:610767:0001}, {ClinVar:1130}" "" "" "rs2241880" "0000001373" "0" "90" "2" "233290815" "233290815" "subst" "0" "00002" "ATG16L1_000002" "g.233290815G>A" "19/38" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs6754677}" "" "" "rs6754677" "0000001374" "3" "90" "2" "233290815" "233290815" "subst" "0" "00002" "ATG16L1_000002" "g.233290815G>A" "16/38" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs6754677}" "" "" "rs6754677" "0000001399" "0" "90" "2" "233260305" "233260305" "subst" "0" "00002" "ATG16L1_000003" "g.233260305C>T" "7/20" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs6758317}" "" "" "rs6758317" "0000001400" "3" "90" "2" "233260305" "233260305" "subst" "0" "00002" "ATG16L1_000003" "g.233260305C>T" "1/20" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs6758317}" "" "" "rs6758317" "0000001401" "0" "90" "2" "233260305" "233260305" "subst" "0" "00002" "ATG16L1_000003" "g.233260305C>T" "9/27" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs6758317}" "" "" "rs6758317" "0000001402" "0" "90" "2" "233260305" "233260305" "subst" "0" "00002" "ATG16L1_000003" "g.233260305C>T" "14/38" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs6758317}" "" "" "rs6758317" "0000001403" "3" "90" "2" "233260305" "233260305" "subst" "0" "00002" "ATG16L1_000003" "g.233260305C>T" "3/38" "{PMID:Boon Pin Kee et al. (2020):31654602}, {dbSNP:rs6758317}" "" "" "rs6758317" ## 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 ATG16L1 ## Count = 17 "{{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/GVS/Function}}" "{{VariantOnTranscript/VariantOnTranscript}}" "0000001363" "00000073" "90" "898" "0" "898" "0" "c.898A>G" "" "p.(Thr300Ala)" "r.(?)" "" "" "" "0000001364" "00000073" "90" "898" "0" "898" "0" "c.898A>G" "" "p.(Thr300Ala)" "r.(?)" "" "" "{ClinVar:1130}" "0000001365" "00000073" "90" "1430" "462" "1430" "462" "c.1430+462G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001366" "00000073" "90" "1430" "462" "1430" "462" "c.1430+462G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001367" "00000073" "90" "898" "0" "898" "0" "c.898A>G" "" "p.(Thr300Ala)" "r.(?)" "" "" "{ClinVar:1130}" "0000001368" "00000073" "90" "898" "0" "898" "0" "c.898A>G" "" "p.(Thr300Ala)" "r.(?)" "" "" "{ClinVar:1130}" "0000001369" "00000073" "90" "1430" "462" "1430" "462" "c.1430+462G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001370" "00000073" "90" "1430" "462" "1430" "462" "c.1430+462G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001371" "00000073" "90" "898" "0" "898" "0" "c.898A>G" "" "p.(Thr300Ala)" "r.(?)" "" "" "{ClinVar:1130}" "0000001372" "00000073" "90" "898" "0" "898" "0" "c.898A>G" "" "p.(Thr300Ala)" "r.(?)" "" "" "{ClinVar:1130}" "0000001373" "00000073" "90" "1430" "462" "1430" "462" "c.1430+462G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001374" "00000073" "90" "1430" "462" "1430" "462" "c.1430+462G>A" "" "p.(=)" "r.(=)" "" "" "" "0000001399" "00000073" "90" "210" "-2825" "210" "-2825" "c.210-2825C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001400" "00000073" "90" "210" "-2825" "210" "-2825" "c.210-2825C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001401" "00000073" "90" "210" "-2825" "210" "-2825" "c.210-2825C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001402" "00000073" "90" "210" "-2825" "210" "-2825" "c.210-2825C>T" "" "p.(=)" "r.(=)" "" "" "" "0000001403" "00000073" "90" "210" "-2825" "210" "-2825" "c.210-2825C>T" "" "p.(=)" "r.(=)" "" "" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 17 "{{screeningid}}" "{{variantid}}" "0000000298" "0000001363" "0000000298" "0000001364" "0000000298" "0000001365" "0000000298" "0000001366" "0000000298" "0000001399" "0000000298" "0000001400" "0000000299" "0000001367" "0000000299" "0000001368" "0000000299" "0000001369" "0000000299" "0000001370" "0000000299" "0000001401" "0000000300" "0000001371" "0000000300" "0000001372" "0000000300" "0000001373" "0000000300" "0000001374" "0000000300" "0000001402" "0000000300" "0000001403"