### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = BCL10) # 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}}" "{{allow_index_wiki}}" "{{id_hgnc}}" "{{id_entrez}}" "{{id_omim}}" "{{show_hgmd}}" "{{show_genecards}}" "{{show_genetests}}" "{{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}}" "{{iNote}}" "BCL10" "B-cell CLL/lymphoma 10" "1" "p22" "unknown" "NG_012216.1" "UD_139396034017" "" "" "" "1" "1" "989" "8915" "603517" "1" "1" "1" "" "" "" "" "1" "" "" "-1" "" "-1" "00000" "2014-08-18 12:53:25" "" "" "00000" "2014-08-18 12:53:25" "" ## 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}}" "{{iNote}}" "{{chrom}}" "00003318" "BCL10" "B-cell CLL/lymphoma 10" "002" "NM_003921.4" "" "NP_003912.1" "" "" "" "-552" "2553" "702" "85731459" "85742587" "00000" "2014-08-18 12:53:25" "" "" "" "" ## Diseases ## Do not remove or alter this header ## ## Count = 0 ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 0 ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Phenotypes ## Do not remove or alter this header ## ## Count = 0 ## Screenings ## Do not remove or alter this header ## ## Count = 0 ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 0 ## 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 = 12 "{{id}}" "{{allele}}" "{{effectid}}" "{{chromosome}}" "{{position_g_start}}" "{{position_g_end}}" "{{type}}" "{{mapping_flags}}" "{{average_frequency}}" "{{owned_by}}" "{{statusid}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{VariantOnGenome/DBID}}" "{{VariantOnGenome/DNA}}" "{{VariantOnGenome/Frequency}}" "{{VariantOnGenome/Reference}}" "{{iNote}}" "{{VariantOnGenome/dbSNP}}" "{{VariantOnGenome/Type}}" "{{Duplicate_Variant}}" "{{VariantOnGenome/Sources}}" "{{VariantOnGenome/Conservation_score/GERP}}" "{{VariantOnGenome/Published_as}}" "{{VariantOnGenome/Remarks}}" "{{VariantOnGenome/Genetic_origin}}" "{{VariantOnGenome/Segregation}}" "{{VariantOnGenome/MSCV}}" "{{VariantOnGenome/Variant_disease}}" "0000000057" "0" "55" "1" "85733375" "85733377" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-20 14:14:31" "BCL10_000001" "g.85733375_85733377del" "" "" "" "" "del" "0" ";" "" "" "" "" "" "MSCV_0000057" "" "0000000058" "0" "55" "1" "85733471" "85733487" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-20 14:14:10" "BCL10_000002" "g.85733471_85733487del" "" "" "" "" "del" "0" ";" "" "" "" "" "" "MSCV_0000058" "" "0000000059" "0" "55" "1" "85733584" "85733585" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-20 14:14:27" "BCL10_000003" "g.85733584_85733585insAA" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0000059" "" "0000000060" "0" "55" "1" "85733602" "85733602" "del" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-20 14:13:53" "BCL10_000004" "g.85733602del" "" "" "" "" "del" "0" ";" "4.850" "" "" "" "" "MSCV_0000060" "" "0000000061" "0" "55" "1" "85733613" "85733614" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-20 14:14:05" "BCL10_000005" "g.85733613_85733614insA" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0000061" "" "0000000062" "0" "55" "1" "85736415" "85736416" "ins" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-20 14:14:17" "BCL10_000006" "g.85736415_85736416insT" "" "" "" "" "ins" "0" ";" "" "" "" "" "" "MSCV_0000062" "" "0000015498" "0" "99" "1" "85733375" "85733377" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:14:24" "BCL10_000001" "g.85733375_85733377del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000057" "" "0000015499" "0" "99" "1" "85733471" "85733487" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:14:01" "BCL10_000002" "g.85733471_85733487del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000058" "" "0000015500" "0" "99" "1" "85733583" "85733584" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:00:16" "BCL10_000007" "g.85733583_85733584insAA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0015500" "" "0000015501" "0" "99" "1" "85733602" "85733602" "del" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:14:20" "BCL10_000004" "g.85733602del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000060" "" "0000015502" "0" "99" "1" "85733613" "85733614" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:13:58" "BCL10_000005" "g.85733613_85733614insA" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000061" "" "0000015503" "0" "99" "1" "85736415" "85736416" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-20 14:14:13" "BCL10_000006" "g.85736415_85736416insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0000062" "" ## 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. ## Count = 12 "{{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/PolyPhen}}" "{{VariantOnTranscript/Position}}" "{{VariantOnTranscript/GVS/Function}}" "{{VariantOnTranscript/Distance_to_splice_site}}" "{{VariantOnTranscript/Location}}" "{{VariantOnTranscript/SIFT}}" "0000000057" "00003318" "55" "637" "0" "635" "0" "c.635_637del" "" "p.(Glu212del)" "r.(?)" "" "" "" "" "" "-" "0000000058" "00003318" "55" "541" "0" "525" "0" "c.525_541del" "" "p.(Val176Asnfs*2)" "r.(?)" "" "" "" "" "" "-" "0000000059" "00003318" "55" "428" "0" "427" "0" "c.427_428insTT" "" "p.(Glu145Leufs*4)" "r.(?)" "" "" "" "" "" "-" "0000000060" "00003318" "55" "410" "0" "410" "0" "c.410del" "" "p.(Asn137Ilefs*11)" "r.(?)" "" "" "" "" "" "-" "0000000061" "00003318" "55" "399" "0" "398" "0" "c.398_399insT" "" "p.(Ser134Leufs*7)" "r.(?)" "" "" "" "" "" "-" "0000000062" "00003318" "55" "232" "0" "231" "0" "c.231_232insA" "" "p.(Gly78Argfs*7)" "r.(?)" "" "" "" "" "" "-" "0000015498" "00003318" "00" "635" "0" "637" "0" "c.635_637del" "" "p.(Glu212del)" "r.(?)" "" "" "" "" "" "-" "0000015499" "00003318" "00" "525" "0" "541" "0" "c.525_541del" "" "p.(Val176Asnfs*2)" "r.(?)" "" "" "" "" "" "-" "0000015500" "00003318" "00" "428" "0" "429" "0" "c.428_429insTT" "" "p.(Glu145Leufs*4)" "r.(?)" "" "" "" "" "" "-" "0000015501" "00003318" "00" "410" "0" "410" "0" "c.410del" "" "p.(Asn137Ilefs*11)" "r.(?)" "" "" "" "" "" "-" "0000015502" "00003318" "00" "398" "0" "399" "0" "c.398_399insT" "" "p.(Ser134Leufs*7)" "r.(?)" "" "" "" "" "" "-" "0000015503" "00003318" "00" "231" "0" "232" "0" "c.231_232insA" "" "p.(Gly78Argfs*7)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0