### LOVD-version 3000-210 ### Full data download ### To import, do not remove or alter this header ### ## Filter: (gene_public = TMEM70) # 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}}" "TMEM70" "transmembrane protein 70" "8" "q21.11" "unknown" "NC_000008.10" "UD_132084566785" "" "" "" "1" "1" "26050" "54968" "612418" "1" "1" "1" "MSeqDR-LSDB" "Variations Associated with Mitochondrial Diseases Gene" "" "" "2" "Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/ " "MSeqDR-LSDB: Mitochondrial Disease LSDB" "0" "Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium" "0" "00001" "2013-11-07 13:50:45" "" "" "" "" "The gene panel from GenDX, MitoPhenome, and NuclearMitome, and MitoCarta, plus all genes on chromosome M" ## Transcripts ## Do not remove or alter this header ## ## Count = 3 "{{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}}" "00000334" "TMEM70" "transcript variant 2" "001" "NM_001040613.2" "" "NP_001035703.1" "" "" "" "-140" "1959" "324" "74888377" "74895018" "00001" "2013-11-07 14:01:19" "" "" "" "8" "00000335" "TMEM70" "transcript variant 3" "002" "NR_033334.1" "" "" "" "" "" "1" "2178" "2178" "74888377" "74895018" "00001" "2013-11-07 14:01:19" "" "" "" "8" "00000336" "TMEM70" "transcript variant 1" "003" "NM_017866.5" "" "NP_060336.3" "" "" "" "-140" "1945" "783" "74888377" "74895018" "00001" "2013-11-07 14:01:19" "" "" "" "8" ## Diseases ## Do not remove or alter this header ## ## Count = 1 "{{id}}" "{{symbol}}" "{{name}}" "{{id_omim}}" "{{tissues}}" "{{features}}" "{{remarks}}" "{{created_by}}" "{{created_date}}" "{{edited_by}}" "{{edited_date}}" "{{iNote}}" "00024" "614052" "Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2, 614052 (3)" "614052" "" "" "" "00001" "2013-11-12 14:00:00" "" "" "" ## Genes_To_Diseases ## Do not remove or alter this header ## ## Count = 1 "{{geneid}}" "{{diseaseid}}" "TMEM70" "00024" ## 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 = 63 "{{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}}" "0000001248" "0" "99" "8" "74891018" "74891018" "subst" "51" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2023-04-24 08:19:30" "TMEM70_000003" "g.74891018C>T" "" "{PMID:21147908:21147908}" "" "rs387907070" "subst" "0" "; clinVar; ensembl;" "2.880" "" "" "" "" "MSCV_0001248" "" "0000001249" "0" "99" "8" "74893388" "74893388" "subst" "35" "0" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-26 01:32:37" "TMEM70_000001" "g.74893388A>G" "" "{PMID:18953340:18953340};{PMID:24485043:24485043}" "" "rs183973249" "subst" "0" ";" "5.350" "" "" "" "" "MSCV_0001249" "" "0000001250" "0" "55" "8" "74893861" "74893861" "subst" "35" "0.000154871" "00000" "9" "00001" "2014-09-16 10:43:04" "00000" "2019-02-26 01:30:29" "TMEM70_000002" "g.74893861A>G" "" "" "" "rs201064449" "subst" "0" ";" "-2.360" "" "" "" "" "MSCV_0001250" "" "0000022342" "0" "55" "8" "74888422" "74888422" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:30:43" "TMEM70_000054" "g.74888422C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022342" "" "0000022343" "0" "55" "8" "74888478" "74888478" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2020-04-07 04:06:26" "TMEM70_000053" "g.74888478G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022343" "" "0000022344" "0" "11" "8" "74888494" "74888494" "subst" "35" "0.244455" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:32:03" "TMEM70_000051" "g.74888494C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022344" "" "0000022345" "0" "55" "8" "74888502" "74888502" "subst" "35" "0.0000769823" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:32:29" "TMEM70_000052" "g.74888502C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022345" "" "0000022346" "0" "33" "8" "74888613" "74888613" "subst" "35" "0.000541126" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:33:41" "TMEM70_000046" "g.74888613C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022346" "" "0000022347" "0" "11" "8" "74888616" "74888616" "subst" "35" "0.172651" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:30:59" "TMEM70_000047" "g.74888616G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022347" "" "0000022348" "0" "55" "8" "74888644" "74888644" "subst" "35" "0.000313676" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:45:20" "TMEM70_000048" "g.74888644G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022348" "" "0000022349" "0" "55" "8" "74888668" "74888668" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:33:49" "TMEM70_000049" "g.74888668G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022349" "" "0000022350" "0" "77" "8" "74890985" "74890985" "subst" "35" "0.00292173" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:33:25" "TMEM70_000050" "g.74890985C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022350" "" "0000022351" "0" "55" "8" "74890994" "74890994" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:30:46" "TMEM70_000040" "g.74890994C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022351" "" "0000022352" "0" "99" "8" "74891018" "74891018" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:30:26" "TMEM70_000003" "g.74891018C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001248" "" "0000022353" "0" "99" "8" "74893388" "74893388" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:32:06" "TMEM70_000001" "g.74893388A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0001249" "" "0000022354" "0" "33" "8" "74893419" "74893419" "subst" "35" "0.0175304" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:32:41" "TMEM70_000041" "g.74893419C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022354" "" "0000022355" "0" "99" "8" "74893446" "74893447" "ins" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:31:40" "TMEM70_000042" "g.74893446_74893447insT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022355" "" "0000022356" "0" "33" "8" "74893452" "74893452" "subst" "35" "0.00130709" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:33:09" "TMEM70_000043" "g.74893452A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022356" "" "0000022357" "0" "77" "8" "74893535" "74893535" "subst" "35" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:33:01" "TMEM70_000044" "g.74893535C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022357" "" "0000022358" "0" "55" "8" "74893572" "74893572" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:31:59" "TMEM70_000045" "g.74893572G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022358" "" "0000022359" "0" "55" "8" "74893573" "74893573" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:30:56" "TMEM70_000037" "g.74893573T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022359" "" "0000022360" "0" "77" "8" "74893607" "74893607" "subst" "51" "0.000153775" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-02 10:30:31" "TMEM70_000038" "g.74893607T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022360" "" "0000022361" "0" "55" "8" "74893628" "74893628" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:33:21" "TMEM70_000039" "g.74893628T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022361" "" "0000022362" "0" "11" "8" "74893653" "74893653" "subst" "35" "0.0109949" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:30:39" "TMEM70_000012" "g.74893653G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022362" "" "0000022363" "0" "33" "8" "74893757" "74893757" "subst" "35" "0.00515147" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:31:21" "TMEM70_000013" "g.74893757C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022363" "" "0000022364" "0" "77" "8" "74893791" "74893794" "del" "35" "0.0000799105" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:32:21" "TMEM70_000014" "g.74893791_74893794del" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022364" "" "0000022365" "0" "77" "8" "74893803" "74893803" "subst" "35" "0.000230734" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:30:33" "TMEM70_000015" "g.74893803A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022365" "" "0000022366" "0" "33" "8" "74893811" "74893811" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:31:36" "TMEM70_000016" "g.74893811T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022366" "" "0000022367" "0" "11" "8" "74893821" "74893821" "subst" "35" "0.223719" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:33:05" "TMEM70_000017" "g.74893821A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022367" "" "0000022368" "0" "11" "8" "74893850" "74893850" "subst" "35" "0.220541" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:32:53" "TMEM70_000018" "g.74893850C>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022368" "" "0000022369" "0" "55" "8" "74893874" "74893874" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:33:37" "TMEM70_000019" "g.74893874C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022369" "" "0000022370" "0" "11" "8" "74893880" "74893880" "subst" "35" "0.465091" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:33:53" "TMEM70_000020" "g.74893880C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022370" "" "0000022371" "0" "55" "8" "74893885" "74893885" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:31:06" "TMEM70_000021" "g.74893885G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022371" "" "0000022372" "0" "11" "8" "74894025" "74894025" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-04 04:33:03" "TMEM70_000022" "g.74894025A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022372" "" "0000022373" "0" "55" "8" "74894052" "74894052" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:32:33" "TMEM70_000023" "g.74894052G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022373" "" "0000022374" "0" "55" "8" "74894073" "74894073" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:31:10" "TMEM70_000024" "g.74894073A>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022374" "" "0000022375" "0" "55" "8" "74894156" "74894156" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:31:44" "TMEM70_000025" "g.74894156A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022375" "" "0000022376" "0" "55" "8" "74894269" "74894269" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-06-18 19:19:28" "TMEM70_000026" "g.74894269T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022376" "" "0000022377" "0" "55" "8" "74894281" "74894281" "subst" "51" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2023-05-04 04:33:03" "TMEM70_000027" "g.74894281T>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022377" "" "0000022378" "0" "55" "8" "74894312" "74894312" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:32:10" "TMEM70_000028" "g.74894312T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022378" "" "0000022379" "0" "11" "8" "74894350" "74894350" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:32:14" "TMEM70_000029" "g.74894350T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022379" "" "0000022380" "0" "33" "8" "74894358" "74894358" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:31:52" "TMEM70_000030" "g.74894358C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022380" "" "0000022381" "0" "55" "8" "74894427" "74894427" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:32:49" "TMEM70_000031" "g.74894427C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022381" "" "0000022382" "0" "33" "8" "74894467" "74894467" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:32:17" "TMEM70_000032" "g.74894467T>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022382" "" "0000022383" "0" "55" "8" "74894513" "74894513" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:31:24" "TMEM70_000033" "g.74894513C>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022383" "" "0000022384" "0" "55" "8" "74894526" "74894526" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2018-06-25 22:09:08" "TMEM70_000034" "g.74894526T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022384" "" "0000022385" "0" "55" "8" "74894549" "74894549" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:31:03" "TMEM70_000035" "g.74894549C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022385" "" "0000022386" "0" "55" "8" "74894570" "74894570" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:33:13" "TMEM70_000036" "g.74894570G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022386" "" "0000022387" "0" "11" "8" "74894627" "74894627" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:33:29" "TMEM70_000005" "g.74894627G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022387" "" "0000022388" "0" "33" "8" "74894641" "74894641" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:31:28" "TMEM70_000006" "g.74894641G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022388" "" "0000022389" "0" "11" "8" "74894748" "74894748" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:32:45" "TMEM70_000004" "g.74894748A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022389" "" "0000022390" "0" "33" "8" "74894760" "74894760" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:32:57" "TMEM70_000007" "g.74894760A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022390" "" "0000022391" "0" "55" "8" "74894798" "74894798" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:33:45" "TMEM70_000008" "g.74894798G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022391" "" "0000022392" "0" "55" "8" "74894798" "74894798" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:33:33" "TMEM70_000009" "g.74894798G>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022392" "" "0000022393" "0" "55" "8" "74894819" "74894819" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:33:17" "TMEM70_000010" "g.74894819A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022393" "" "0000022394" "0" "55" "8" "74895009" "74895009" "subst" "35" "0" "00000" "9" "00001" "2018-06-26 05:37:45" "00000" "2019-02-26 01:32:25" "TMEM70_000011" "g.74895009G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "MSCV_0022394" "" "0000026640" "0" "00" "8" "74888632" "74888633" "ins" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:17:24" "TMEM70_000059" "g.74888632_74888633insGT" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026641" "0" "00" "8" "74888656" "74888656" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:17:38" "TMEM70_000060" "g.74888656G>A" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026642" "0" "00" "8" "74891012" "74891012" "subst" "35" "0.0000768876" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-17 07:17:50" "TMEM70_000061" "g.74891012T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026643" "0" "00" "8" "74893482" "74893482" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:26:19" "TMEM70_000055" "g.74893482C>T" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026644" "0" "00" "8" "74893513" "74893513" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:26:30" "TMEM70_000056" "g.74893513T>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026645" "0" "00" "8" "74893596" "74893596" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:26:41" "TMEM70_000057" "g.74893596A>G" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" "0000026646" "0" "00" "8" "74893855" "74893855" "subst" "35" "0" "00001" "9" "00001" "2019-06-16 13:34:45" "00000" "2019-06-16 23:26:52" "TMEM70_000058" "g.74893855G>C" "" "" "" "" "" "0" "; clinvar;" "" "" "" "" "" "" "" ## 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 = 189 "{{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}}" "0000001248" "00000334" "99" "238" "0" "238" "0" "c.238C>T" "2/4" "p.(Arg80*)" "r.(?)" "-" "" "stop_gained,NMD_transcript_variant" "" "" "-" "0000001248" "00000335" "99" "378" "0" "378" "0" "n.378C>T" "2/4" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001248" "00000336" "99" "238" "0" "238" "0" "c.238C>T" "2/4" "p.(Arg80*)" "r.(?)" "-" "" "stop_gained,NMD_transcript_variant" "" "" "-" "0000001249" "00000334" "00" "331" "-2" "331" "-2" "c.*7-2A>G" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000001249" "00000335" "00" "550" "-2" "550" "-2" "n.550-2A>G" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant,non_coding_transcript_variant" "" "" "-" "0000001249" "00000336" "00" "317" "-2" "317" "-2" "c.317-2A>G" "-" "p.?" "r.spl?" "-" "" "splice_acceptor_variant" "" "" "-" "0000001250" "00000334" "55" "802" "0" "802" "0" "c.*478A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000001250" "00000335" "55" "1021" "0" "1021" "0" "n.1021A>G" "4/4" "" "" "-" "" "non_coding_transcript_exon_variant,non_coding_transcript_variant" "" "" "-" "0000001250" "00000336" "55" "788" "0" "788" "0" "c.*5A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022342" "00000334" "00" "-95" "0" "-95" "0" "c.-95C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022342" "00000335" "00" "46" "0" "46" "0" "n.46C>T" "" "" "" "" "" "" "" "" "-" "0000022342" "00000336" "00" "-95" "0" "-95" "0" "c.-95C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022343" "00000334" "00" "-39" "0" "-39" "0" "c.-39G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022343" "00000335" "00" "102" "0" "102" "0" "n.102G>T" "" "" "" "" "" "" "" "" "-" "0000022343" "00000336" "00" "-39" "0" "-39" "0" "c.-39G>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022344" "00000334" "00" "-23" "0" "-23" "0" "c.-23C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022344" "00000335" "00" "118" "0" "118" "0" "n.118C>T" "" "" "" "" "" "" "" "" "-" "0000022344" "00000336" "00" "-23" "0" "-23" "0" "c.-23C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022345" "00000334" "00" "-15" "0" "-15" "0" "c.-15C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022345" "00000335" "00" "126" "0" "126" "0" "n.126C>G" "" "" "" "" "" "" "" "" "-" "0000022345" "00000336" "00" "-15" "0" "-15" "0" "c.-15C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022346" "00000334" "00" "97" "0" "97" "0" "c.97C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022346" "00000335" "00" "237" "0" "237" "0" "n.237C>A" "" "" "" "" "" "" "" "" "-" "0000022346" "00000336" "00" "97" "0" "97" "0" "c.97C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022347" "00000334" "00" "100" "0" "100" "0" "c.100G>C" "" "p.(Ala34Pro)" "r.(?)" "" "" "" "" "" "-" "0000022347" "00000335" "00" "240" "0" "240" "0" "n.240G>C" "" "" "" "" "" "" "" "" "-" "0000022347" "00000336" "00" "100" "0" "100" "0" "c.100G>C" "" "p.(Ala34Pro)" "r.(?)" "" "" "" "" "" "-" "0000022348" "00000334" "00" "128" "0" "128" "0" "c.128G>A" "" "p.(Ser43Asn)" "r.(?)" "" "" "" "" "" "-" "0000022348" "00000335" "00" "268" "0" "268" "0" "n.268G>A" "" "" "" "" "" "" "" "" "-" "0000022348" "00000336" "00" "128" "0" "128" "0" "c.128G>A" "" "p.(Ser43Asn)" "r.(?)" "" "" "" "" "" "-" "0000022349" "00000334" "00" "152" "0" "152" "0" "c.152G>T" "" "p.(Gly51Val)" "r.(?)" "" "" "" "" "" "-" "0000022349" "00000335" "00" "292" "0" "292" "0" "n.292G>T" "" "" "" "" "" "" "" "" "-" "0000022349" "00000336" "00" "152" "0" "152" "0" "c.152G>T" "" "p.(Gly51Val)" "r.(?)" "" "" "" "" "" "-" "0000022350" "00000334" "00" "211" "-6" "211" "-6" "c.211-6C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022350" "00000335" "00" "351" "-6" "351" "-6" "n.351-6C>T" "" "" "" "" "" "" "" "" "-" "0000022350" "00000336" "00" "211" "-6" "211" "-6" "c.211-6C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022351" "00000334" "00" "214" "0" "214" "0" "c.214C>T" "" "p.(Pro72Ser)" "r.(?)" "" "" "" "" "" "-" "0000022351" "00000335" "00" "354" "0" "354" "0" "n.354C>T" "" "" "" "" "" "" "" "" "-" "0000022351" "00000336" "00" "214" "0" "214" "0" "c.214C>T" "" "p.(Pro72Ser)" "r.(?)" "" "" "" "" "" "-" "0000022352" "00000334" "00" "238" "0" "238" "0" "c.238C>T" "" "p.(Arg80*)" "r.(?)" "" "" "" "" "" "-" "0000022352" "00000335" "00" "378" "0" "378" "0" "n.378C>T" "" "" "" "" "" "" "" "" "-" "0000022352" "00000336" "00" "238" "0" "238" "0" "c.238C>T" "" "p.(Arg80*)" "r.(?)" "" "" "" "" "" "-" "0000022353" "00000334" "00" "331" "-2" "331" "-2" "c.*7-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022353" "00000335" "00" "550" "-2" "550" "-2" "n.550-2A>G" "" "" "" "" "" "" "" "" "-" "0000022353" "00000336" "00" "317" "-2" "317" "-2" "c.317-2A>G" "" "p.?" "r.spl?" "" "" "" "" "" "-" "0000022354" "00000334" "00" "360" "0" "360" "0" "c.*36C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022354" "00000335" "00" "579" "0" "579" "0" "n.579C>G" "" "" "" "" "" "" "" "" "-" "0000022354" "00000336" "00" "346" "0" "346" "0" "c.346C>G" "" "p.(Leu116Val)" "r.(?)" "" "" "" "" "" "-" "0000022355" "00000334" "00" "387" "0" "388" "0" "c.*63_*64insT" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022355" "00000335" "00" "606" "0" "607" "0" "n.606_607insT" "" "" "" "" "" "" "" "" "-" "0000022355" "00000336" "00" "373" "0" "374" "0" "c.373_374insT" "" "p.(Thr127Tyrfs*4)" "r.(?)" "" "" "" "" "" "-" "0000022356" "00000334" "00" "393" "0" "393" "0" "c.*69A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022356" "00000335" "00" "612" "0" "612" "0" "n.612A>G" "" "" "" "" "" "" "" "" "-" "0000022356" "00000336" "00" "379" "0" "379" "0" "c.379A>G" "" "p.(Thr127Ala)" "r.(?)" "" "" "" "" "" "-" "0000022357" "00000334" "00" "476" "0" "476" "0" "c.*152C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022357" "00000335" "00" "695" "0" "695" "0" "n.695C>A" "" "" "" "" "" "" "" "" "-" "0000022357" "00000336" "00" "462" "0" "462" "0" "c.462C>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022358" "00000334" "00" "513" "0" "513" "0" "c.*189G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022358" "00000335" "00" "732" "0" "732" "0" "n.732G>A" "" "" "" "" "" "" "" "" "-" "0000022358" "00000336" "00" "499" "0" "499" "0" "c.499G>A" "" "p.(Val167Ile)" "r.(?)" "" "" "" "" "" "-" "0000022359" "00000334" "00" "514" "0" "514" "0" "c.*190T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022359" "00000335" "00" "733" "0" "733" "0" "n.733T>C" "" "" "" "" "" "" "" "" "-" "0000022359" "00000336" "00" "500" "0" "500" "0" "c.500T>C" "" "p.(Val167Ala)" "r.(?)" "" "" "" "" "" "-" "0000022360" "00000334" "00" "548" "0" "548" "0" "c.*224T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022360" "00000335" "00" "767" "0" "767" "0" "n.767T>C" "" "" "" "" "" "" "" "" "-" "0000022360" "00000336" "00" "534" "0" "534" "0" "c.534T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022361" "00000334" "00" "569" "0" "569" "0" "c.*245T>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022361" "00000335" "00" "788" "0" "788" "0" "n.788T>G" "" "" "" "" "" "" "" "" "-" "0000022361" "00000336" "00" "555" "0" "555" "0" "c.555T>G" "" "p.(Asn185Lys)" "r.(?)" "" "" "" "" "" "-" "0000022362" "00000334" "00" "594" "0" "594" "0" "c.*270G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022362" "00000335" "00" "813" "0" "813" "0" "n.813G>A" "" "" "" "" "" "" "" "" "-" "0000022362" "00000336" "00" "580" "0" "580" "0" "c.580G>A" "" "p.(Val194Met)" "r.(?)" "" "" "" "" "" "-" "0000022363" "00000334" "00" "698" "0" "698" "0" "c.*374C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022363" "00000335" "00" "917" "0" "917" "0" "n.917C>G" "" "" "" "" "" "" "" "" "-" "0000022363" "00000336" "00" "684" "0" "684" "0" "c.684C>G" "" "p.(Asn228Lys)" "r.(?)" "" "" "" "" "" "-" "0000022364" "00000334" "00" "732" "0" "735" "0" "c.*408_*411del" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022364" "00000335" "00" "951" "0" "954" "0" "n.951_954del" "" "" "" "" "" "" "" "" "-" "0000022364" "00000336" "00" "718" "0" "721" "0" "c.718_721del" "" "p.(Glu241Asnfs*24)" "r.(?)" "" "" "" "" "" "-" "0000022365" "00000334" "00" "744" "0" "744" "0" "c.*420A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022365" "00000335" "00" "963" "0" "963" "0" "n.963A>G" "" "" "" "" "" "" "" "" "-" "0000022365" "00000336" "00" "730" "0" "730" "0" "c.730A>G" "" "p.(Ile244Val)" "r.(?)" "" "" "" "" "" "-" "0000022366" "00000334" "00" "752" "0" "752" "0" "c.*428T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022366" "00000335" "00" "971" "0" "971" "0" "n.971T>C" "" "" "" "" "" "" "" "" "-" "0000022366" "00000336" "00" "738" "0" "738" "0" "c.738T>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022367" "00000334" "00" "762" "0" "762" "0" "c.*438A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022367" "00000335" "00" "981" "0" "981" "0" "n.981A>G" "" "" "" "" "" "" "" "" "-" "0000022367" "00000336" "00" "748" "0" "748" "0" "c.748A>G" "" "p.(Thr250Ala)" "r.(?)" "" "" "" "" "" "-" "0000022368" "00000334" "00" "791" "0" "791" "0" "c.*467C>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022368" "00000335" "00" "1010" "0" "1010" "0" "n.1010C>G" "" "" "" "" "" "" "" "" "-" "0000022368" "00000336" "00" "777" "0" "777" "0" "c.777C>G" "" "p.(Asp259Glu)" "r.(?)" "" "" "" "" "" "-" "0000022369" "00000334" "00" "815" "0" "815" "0" "c.*491C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022369" "00000335" "00" "1034" "0" "1034" "0" "n.1034C>T" "" "" "" "" "" "" "" "" "-" "0000022369" "00000336" "00" "801" "0" "801" "0" "c.*18C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022370" "00000334" "00" "821" "0" "821" "0" "c.*497C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022370" "00000335" "00" "1040" "0" "1040" "0" "n.1040C>T" "" "" "" "" "" "" "" "" "-" "0000022370" "00000336" "00" "807" "0" "807" "0" "c.*24C>T" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022371" "00000334" "00" "826" "0" "826" "0" "c.*502G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022371" "00000335" "00" "1045" "0" "1045" "0" "n.1045G>A" "" "" "" "" "" "" "" "" "-" "0000022371" "00000336" "00" "812" "0" "812" "0" "c.*29G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022372" "00000334" "00" "966" "0" "966" "0" "c.*642A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022372" "00000335" "00" "1185" "0" "1185" "0" "n.1185A>G" "" "" "" "" "" "" "" "" "-" "0000022372" "00000336" "00" "952" "0" "952" "0" "c.*169A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022373" "00000334" "00" "993" "0" "993" "0" "c.*669G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022373" "00000335" "00" "1212" "0" "1212" "0" "n.1212G>A" "" "" "" "" "" "" "" "" "-" "0000022373" "00000336" "00" "979" "0" "979" "0" "c.*196G>A" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022374" "00000334" "00" "1014" "0" "1014" "0" "c.*690A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022374" "00000335" "00" "1233" "0" "1233" "0" "n.1233A>C" "" "" "" "" "" "" "" "" "-" "0000022374" "00000336" "00" "1000" "0" "1000" "0" "c.*217A>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022375" "00000334" "00" "1097" "0" "1097" "0" "c.*773A>G" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000022375" "00000335" "00" "1316" "0" "1316" "0" "n.1316A>G" "" "" "" "" "" "" "" "" "-" "0000022375" "00000336" "00" "1083" "0" "1083" 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"" "" "" "" "" "-" "0000026646" "00000334" "00" "796" "0" "796" "0" "c.*472G>C" "" "p.(=)" "r.(=)" "" "" "" "" "" "-" "0000026646" "00000335" "00" "1015" "0" "1015" "0" "n.1015G>C" "" "" "" "" "" "" "" "" "-" "0000026646" "00000336" "00" "782" "0" "782" "0" "c.782G>C" "" "p.(*261Serext*17)" "r.(?)" "" "" "" "" "" "-" ## Screenings_To_Variants ## Do not remove or alter this header ## ## Count = 0