### LOVD-version 3000-30b ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = ROS1) # 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}}" "ROS1" "c-ros oncogene 1 , receptor tyrosine kinase" "6" "q21-q22" "unknown" "NG_033929.1" "UD_132610851916" "" "https://www.LOVD.nl/ROS1" "" "1" "10261" "6098" "165020" "1" "1" "1" "1" "Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland." "" "g" "https://databases.lovd.nl/shared/refseq/ROS1_codingDNA.html" "1" "" "" "-1" "" "-1" "00001" "2013-05-03 00:00:00" "00006" "2018-01-12 19:15:20" "00000" "2025-11-01 13:22:20" ## Transcripts ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{geneid}}" "{{name}}" "{{id_mutalyzer}}" "{{id_ncbi}}" "{{id_ensembl}}" "{{id_protein_ncbi}}" "{{id_protein_ensembl}}" "{{id_protein_uniprot}}" "{{remarks}}" "{{position_c_mrna_start}}" "{{position_c_mrna_end}}" "{{position_c_cds_end}}" "{{position_g_mrna_start}}" "{{position_g_mrna_end}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "00018051" "ROS1" "c-ros oncogene 1 , receptor tyrosine kinase" "001" "NM_002944.2" "" "NP_002935.2" "" "" "" "-199" "7169" "7044" "117747018" "117609530" "" "0000-00-00 00:00:00" "" "" ## 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}}" "00198" "?" "unclassified / mixed" "" "" "" "" "" "00006" "2013-09-13 14:21:47" "00006" "2024-11-23 09:38:12" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 0 ## Individuals ## Do not remove or alter this header ## ## Count = 1 "{{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}}" "00150217" "" "" "" "1" "" "00006" "{PMID:Karaca 2015:26539891}" "" "" "" "" "" "0" "family structure in paper" "" "" "26539891-FamBAB4519" ## Individuals_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{individualid}}" "{{diseaseid}}" "00150217" "00198" ## Phenotypes ## Do not remove or alter this header ## ## Note: Only showing Phenotype columns active for Diseases 00198 ## Count = 1 "{{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}}" "0000122619" "00198" "00150217" "00006" "Unknown" "" "intellectual diability, coarse face, brain MRI NORMAL except aracnoid cyst in younger proband, MI" "" "" "" "" "" "" "" "" "" "" "" ## Screenings ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{individualid}}" "{{variants_found}}" "{{owned_by}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{Screening/Technique}}" "{{Screening/Template}}" "{{Screening/Tissue}}" "{{Screening/Remarks}}" "0000151072" "00150217" "1" "00006" "00006" "2018-01-13 12:41:38" "" "" "SEQ-NG-I" "DNA" "" "WES" ## Screenings_To_Genes ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{geneid}}" "0000151072" "ROS1" ## 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 = 11 "{{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}}" "0000244240" "3" "90" "6" "117715395" "117715395" "subst" "0.0014278" "00006" "ROS1_000001" "g.117715395C>G" "" "{PMID:Karaca 2015:26539891}" "" "NM_002944: c.G1094C; p.G365A" "" "Germline" "" "" "0" "" "" "g.117394232C>G" "" "pathogenic" "" "0000256223" "0" "50" "6" "117650501" "117650501" "subst" "0" "01943" "ROS1_000003" "g.117650501A>G" "" "" "" "ROS1(NM_002944.2):c.5357T>C (p.L1786P)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117329338A>G" "" "VUS" "" "0000307206" "0" "50" "6" "117631344" "117631344" "subst" "4.06633E-6" "01943" "ROS1_000002" "g.117631344T>C" "" "" "" "ROS1(NM_002944.2):c.6334A>G (p.N2112D)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "0" "" "" "g.117310181T>C" "" "VUS" "" "0000526990" "0" "50" "6" "117632261" "117632261" "subst" "0.000165026" "01943" "ROS1_000004" "g.117632261G>T" "" "" "" "ROS1(NM_002944.2):c.6155C>A (p.T2052N)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117311098G>T" "" "VUS" "" "0000526991" "0" "50" "6" "117681126" "117681126" "dup" "0" "01804" "ROS1_000005" "g.117681126dup" "" "" "" "ROS1(NM_002944.2):c.3500dupT (p.(Leu1167PhefsTer26))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117359963dup" "" "VUS" "" "0000526993" "0" "50" "6" "117724380" "117724380" "subst" "8.19854E-6" "01943" "ROS1_000007" "g.117724380G>A" "" "" "" "ROS1(NM_002944.2):c.499C>T (p.R167*)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117403217G>A" "" "VUS" "" "0000526994" "0" "30" "6" "117724427" "117724427" "subst" "0.000250594" "01943" "ROS1_000008" "g.117724427G>A" "" "" "" "ROS1(NM_002944.2):c.452C>T (p.P151L)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117403264G>A" "" "likely benign" "" "0000526995" "0" "50" "6" "117746698" "117746698" "subst" "4.44492E-6" "01943" "ROS1_000009" "g.117746698A>C" "" "" "" "ROS1(NM_002944.2):c.122T>G (p.L41R)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "g.117425535A>C" "" "VUS" "" "0000720648" "0" "30" "6" "117715890" "117715890" "subst" "4.13551E-5" "01943" "ROS1_000010" "g.117715890C>G" "" "" "" "ROS1(NM_002944.2):c.868G>C (p.E290Q)" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" "0001048118" "0" "90" "6" "117638344" "117638344" "subst" "4.06964E-6" "03779" "ROS1_000011" "g.117638344C>T" "" "" "" "" "" "Unknown" "" "rs1484038087" "0" "" "" "" "" "pathogenic" "" "0001052471" "0" "30" "6" "117662682" "117662682" "subst" "0.024433" "01804" "ROS1_000012" "g.117662682A>G" "" "" "" "ROS1(NM_001378902.1):c.4765T>C (p.(Leu1589=))" "VKGL data sharing initiative Nederland" "CLASSIFICATION record" "" "" "" "" "" "" "" "likely benign" "" ## Variants_On_Transcripts ## Do not remove or alter this header ## ## Please note that not necessarily all variants found in the given individuals are shown. This output is restricted to variants in the selected gene. ## Note: Only showing Variants_On_Transcript columns active for Genes ROS1 ## Count = 11 "{{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}}" "0000244240" "00018051" "90" "1094" "0" "1094" "0" "c.1094G>C" "r.(?)" "p.(Gly365Ala)" "" "0000256223" "00018051" "50" "5357" "0" "5357" "0" "c.5357T>C" "r.(?)" "p.(Leu1786Pro)" "" "0000307206" "00018051" "50" "6334" "0" "6334" "0" "c.6334A>G" "r.(?)" "p.(Asn2112Asp)" "" "0000526990" "00018051" "50" "6155" "0" "6155" "0" "c.6155C>A" "r.(?)" "p.(Thr2052Asn)" "" "0000526991" "00018051" "50" "3500" "0" "3500" "0" "c.3500dup" "r.(?)" "p.(Leu1167PhefsTer26)" "" "0000526993" "00018051" "50" "499" "0" "499" "0" "c.499C>T" "r.(?)" "p.(Arg167Ter)" "" "0000526994" "00018051" "30" "452" "0" "452" "0" "c.452C>T" "r.(?)" "p.(Pro151Leu)" "" "0000526995" "00018051" "50" "122" "0" "122" "0" "c.122T>G" "r.(?)" "p.(Leu41Arg)" "" "0000720648" "00018051" "30" "868" "0" "868" "0" "c.868G>C" "r.(?)" "p.(Glu290Gln)" "" "0001048118" "00018051" "90" "6097" "0" "6097" "0" "c.6097G>A" "r.(?)" "p.(Asp2033Asn)" "" "0001052471" "00018051" "30" "4783" "0" "4783" "0" "c.4783T>C" "r.(?)" "p.(=)" "" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 1 "{{screeningid}}" "{{variantid}}" "0000151072" "0000244240"