##fileformat=VCFv4.2
##FILTER=<ID=PASS,Description="All filters passed">
##ALPHSCORE=AlphScore_final scores as described in https://doi.org/10.1093/bioinformatics/btad280
##ASV_ACMG_class=AnnotSv 'ACMG_class' output.
##ASV_AnnotSV_ranking_criteria=AnnotSv 'AnnotSV_ranking_criteria' output.
##ASV_AnnotSV_ranking_score=AnnotSv 'AnnotSV_ranking_score' output.
##ASV_Gene_name=AnnotSv 'Gene_name' output.
##ASV_RE_gene=AnnotSv 'RE_gene' output.
##CAPICE_CL=CAPICE classification
##CAPICE_SC=CAPICE score
##FATHMM_MKL_NC=FATHMM_MKL_NC: Predict the Functional Consequences of Non-Coding Single Nucleotide Variants (SNVs)
##FORMAT=<ID=AD,Number=R,Type=Integer,Description="Allelic depths for the ref and alt alleles in the order listed">
##FORMAT=<ID=GT,Number=1,Type=String,Description="Genotype">
##FORMAT=<ID=LC,Number=1,Type=Integer,Description="Locus coverage">
##FORMAT=<ID=RU_CALL,Number=1,Type=String,Description="Most frequent actual repeat motif">
##FORMAT=<ID=RU_CI,Number=A,Type=String,Description="95% confidence interval per allele. 'NA' if less than 2 reads were present.">
##FORMAT=<ID=RU_MATCH,Number=1,Type=Integer,Description="RU call matches catalog (allowing shift/IUPAC), 1=match, 0=mismatch">
##FORMAT=<ID=RU_NR,Number=A,Type=String,Description="Number of repeat units per allele.">
##FORMAT=<ID=RU_SEEN,Number=.,Type=String,Description="All RUs encountered with read counts">
##FORMAT=<ID=RU_SPAN,Number=A,Type=Integer,Description="Number of spanning reads per allele.">
##FORMAT=<ID=VI,Number=.,Type=String,Description="An enumeration of possible inheritance modes based on the pedigree of the sample. Potential values: AD, AD_IP, AR, AR_C, XLR, XLD">
##FORMAT=<ID=VIAB,Number=1,Type=Float,Description="VIP calculated allele balance">
##FORMAT=<ID=VIC,Number=1,Type=String,Description="Possible Compound hetrozygote variants.">
##FORMAT=<ID=VID,Number=1,Type=Integer,Description="De novo variant.">
##FORMAT=<ID=VIG,Number=.,Type=String,Description="Genes with a (potential) inheritance match.">
##FORMAT=<ID=VIM,Number=1,Type=Integer,Description="Inheritance Match: Genotypes, affected statuses and known gene inheritance patterns match.">
##FORMAT=<ID=VIPC_S,Number=.,Type=String,Description="VIP decision tree classification.">
##FORMAT=<ID=VIPP_S,Number=.,Type=String,Description="VIP decision tree path.">
##Grantham=Grantham Matrix score - Grantham, R. Amino Acid Difference Formula to Help Explain Protein Evolution, Science 1974 Sep 6;185(4154):862-4.
##INFO=<ID=CSQ,Number=.,Type=String,Description="Consequence annotations from Ensembl VEP. Format: Allele|Consequence|IMPACT|SYMBOL|Gene|Feature_type|Feature|BIOTYPE|EXON|INTRON|HGVSc|HGVSp|cDNA_position|CDS_position|Protein_position|Amino_acids|Codons|Existing_variation|ALLELE_NUM|DISTANCE|STRAND|FLAGS|PICK|SYMBOL_SOURCE|HGNC_ID|REFSEQ_MATCH|REFSEQ_OFFSET|SOURCE|SIFT|PolyPhen|HGVS_OFFSET|CLIN_SIG|SOMATIC|PHENO|PUBMED|CHECK_REF|MOTIF_NAME|MOTIF_POS|HIGH_INF_POS|MOTIF_SCORE_CHANGE|TRANSCRIPTION_FACTORS|Grantham|SpliceAI_pred_DP_AG|SpliceAI_pred_DP_AL|SpliceAI_pred_DP_DG|SpliceAI_pred_DP_DL|SpliceAI_pred_DS_AG|SpliceAI_pred_DS_AL|SpliceAI_pred_DS_DG|SpliceAI_pred_DS_DL|SpliceAI_pred_SYMBOL|CAPICE_CL|CAPICE_SC|existing_InFrame_oORFs|existing_OutOfFrame_oORFs|existing_uORFs|five_prime_UTR_variant_annotation|five_prime_UTR_variant_consequence|IncompletePenetrance|InheritanceModesGene|VKGL|VKGL_CL|gnomAD_AF|gnomAD_COV|gnomAD_FAF95|gnomAD_FAF99|gnomAD_HN|gnomAD_QC|gnomAD_SRC|clinVar_CLNID|clinVar_CLNREVSTAT|clinVar_CLNSIG|clinVar_CLNSIGINCL|ASV_ACMG_class|ASV_AnnotSV_ranking_criteria|ASV_AnnotSV_ranking_score|ASV_Gene_name|ASV_RE_gene|ALPHSCORE|ncER|FATHMM_MKL_NC|ReMM|apogee_Score|apogee_Uscore|mitoTip_Quartile|mitoTip_Score|hmtvar_DiseaseScore|phyloP|VIPC|VIPP">
##INFO=<ID=Disease,Number=1,Type=String,Description="Associated disorder">
##INFO=<ID=DisplayRU,Number=1,Type=String,Description="Display repeat unit familiar to clinician">
##INFO=<ID=END,Number=1,Type=Integer,Description="End position">
##INFO=<ID=HGNCId,Number=1,Type=Integer,Description="HGNC gene id for associated disease gene">
##INFO=<ID=InheritanceMode,Number=1,Type=String,Description="Main mode of inheritance for disorder">
##INFO=<ID=OLD_REC,Number=1,Type=String,Description="Original variant. Format: CHR|POS|REF|ALT|USED_ALT_IDX">
##INFO=<ID=REPID,Number=1,Type=String,Description="Locus identifier.">
##INFO=<ID=RU_CAT,Number=1,Type=String,Description="Catalog repeat motif">
##INFO=<ID=RankScore,Number=1,Type=String,Description="RankScore for variant in this family as family(str):score(int)">
##INFO=<ID=STR_NORMAL_MAX,Number=1,Type=Integer,Description="Max number of repeats allowed to call as normal">
##INFO=<ID=STR_PATHOLOGIC_MIN,Number=1,Type=Integer,Description="Min number of repeats required to call as pathologic">
##INFO=<ID=STR_STATUS,Number=A,Type=String,Description="Repeat expansion status. Alternatives in [normal, pre_mutation, full_mutation]">
##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant">
##INFO=<ID=Source,Number=1,Type=String,Description="Source collection for variant definition">
##INFO=<ID=SourceDisplay,Number=1,Type=String,Description="Source for variant definition, display">
##INFO=<ID=SourceId,Number=1,Type=String,Description="Source id for variant definition">
##INFO=<ID=SweGenMean,Number=1,Type=Float,Description="Average number of repeat unit copies in population">
##INFO=<ID=SweGenStd,Number=1,Type=Float,Description="Standard deviation of number of repeat unit copies in population">
##INFO=<ID=VIPC_S,Number=.,Type=String,Description="VIP decision tree classification (samples).">
##INFO=<ID=phyloP,Number=.,Type=String,Description="[PATH]/hg38.phyloP100way.bw">
##IncompletePenetrance=Boolean indicating if the gene is known for incomplete penetrance, based on  '/<PATH_TO>/resources/inheritance_20250411.tsv' .
##InheritanceModesGene=List of inheritance modes for the gene, based on  '/<PATH_TO>/resources/inheritance_20250411.tsv'
##ReMM=ReMM scores. The Regulatory Mendelian Mutation (ReMM) score was created for relevance prediction of non-coding variations (SNVs and small InDels) in the human genome (hg19) in terms of Mendelian diseases.
##SpliceAI_pred_DP_AG=SpliceAI predicted effect on splicing. Delta position for acceptor gain
##SpliceAI_pred_DP_AL=SpliceAI predicted effect on splicing. Delta position for acceptor loss
##SpliceAI_pred_DP_DG=SpliceAI predicted effect on splicing. Delta position for donor gain
##SpliceAI_pred_DP_DL=SpliceAI predicted effect on splicing. Delta position for donor loss
##SpliceAI_pred_DS_AG=SpliceAI predicted effect on splicing. Delta score for acceptor gain
##SpliceAI_pred_DS_AL=SpliceAI predicted effect on splicing. Delta score for acceptor loss
##SpliceAI_pred_DS_DG=SpliceAI predicted effect on splicing. Delta score for donor gain
##SpliceAI_pred_DS_DL=SpliceAI predicted effect on splicing. Delta score for donor loss
##SpliceAI_pred_SYMBOL=SpliceAI gene symbol
##VEP-command-line='vep --allele_number --allow_non_variant --assembly GRCh38 --buffer_size 1000 --cache --compress_output bgzip --custom [PATH]/hg38.phyloP100way.bw,phyloP,bigwig,exact,0 --database 0 --dir_cache [PATH]/cache --dir_plugins [PATH]/plugins --dont_skip --exclude_predicted --fasta [PATH]/GCA_000001405.15_GRCh38_no_alt_analysis_set.fna.gz --flag_pick_allele --fork 4 --format vcf --hgvs --input_file preprocessed_stranger_vip_normalized.vcf.gz --no_stats --numbers --offline --output_file vep_vip_annotated.vcf.gz --plugin [PATH]/hmtvar_trna_scores.tsv.gz --polyphen s --pubmed --refseq --safe --shift_3prime --sift s --symbol --total_length --use_given_ref --vcf'
##VEP="v111" time="2026-02-05 13:42:14" cache="/<PATH_TO>/resources/vep/cache/homo_sapiens_refseq/111_GRCh38" ensembl-io=111.dbba8d6 ensembl-variation=111.d616b1e ensembl-funcgen=111.5327cdd ensembl=111.a6cc543 1000genomes="phase3" COSMIC="98" ClinVar="202306" HGMD-PUBLIC="20204" assembly="GRCh38.p14" dbSNP="156" gencode="GENCODE 45" genebuild="2014-07" gnomADe="r2.1.1" gnomADg="v3.1.2" polyphen="2.2.3" refseq="GCF_000001405.40-RS_2023_03 - GCF_000001405.40_GRCh38.p14_genomic.gff" regbuild="1.0" sift="6.2.1"
##VIPC=VIP decision tree classification
##VIPP=VIP decision tree path (ampersand separated)
##VIP_treeCommand=--input vip_annotated.vcf.gz_replaced.vcf.gz --metadata /<PATH_TO>/vip/resources/field_metadata.json --config /<PATH_TO>/vip/resources/decision_tree_GRCh38.json --path --output vip_classified.vcf.gz_replaced.vcf.gz
##VIP_treeVersion=6.0.0
##VKGL=file:/<PATH_TO>/resources/GRCh38/vkgl_consensus_20250701.tsv'
##VKGL_CL=VKGL consensus variant classification.
##apogee_Score=Score assigned by APOGEE
##apogee_Uscore=Unbiased score assigned by APOGEE
##clinVar_CLNID=ClinVar variation identifier
##clinVar_CLNREVSTAT=ClinVar review status for the Variation ID
##clinVar_CLNSIG=Clinical significance for this single variant; multiple values are separated by a vertical bar
##clinVar_CLNSIGINCL=Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance; multiple values are separated by a vertical bar
##contig=<ID=chr1,length=248956422>
##contig=<ID=chr2,length=242193529>
##contig=<ID=chr3,length=198295559>
##contig=<ID=chr4,length=190214555>
##contig=<ID=chr5,length=181538259>
##contig=<ID=chr6,length=170805979>
##contig=<ID=chr7,length=159345973>
##contig=<ID=chr8,length=145138636>
##contig=<ID=chr9,length=138394717>
##contig=<ID=chr10,length=133797422>
##contig=<ID=chr11,length=135086622>
##contig=<ID=chr12,length=133275309>
##contig=<ID=chr13,length=114364328>
##contig=<ID=chr14,length=107043718>
##contig=<ID=chr15,length=101991189>
##contig=<ID=chr16,length=90338345>
##contig=<ID=chr17,length=83257441>
##contig=<ID=chr18,length=80373285>
##contig=<ID=chr19,length=58617616>
##contig=<ID=chr20,length=64444167>
##contig=<ID=chr21,length=46709983>
##contig=<ID=chr22,length=50818468>
##contig=<ID=chrX,length=156040895>
##contig=<ID=chrY,length=57227415>
##contig=<ID=chrM,length=16569>
##existing_InFrame_oORFs=The number of existing inFrame overlapping ORFs (inFrame oORF) at the 5 prime UTR
##existing_OutOfFrame_oORFs=The number of existing out-of-frame overlapping ORFs (OutOfFrame oORF) at the 5 prime UTR
##existing_uORFs=The number of existing uORFs with a stop codon within the 5 prime UTR
##five_prime_UTR_variant_annotation=Output the annotation of a given 5 prime UTR variant
##five_prime_UTR_variant_consequence=Output the variant consequences of a given 5 prime UTR variant: uAUG_gained, uAUG_lost, uSTOP_lost or uFrameshift
##gnomAD_AF=gnomAD allele frequency
##gnomAD_COV=gnomAD coverage (percent of individuals in gnomAD source)
##gnomAD_FAF95=gnomAD filtering allele frequency (95% confidence)
##gnomAD_FAF99=gnomAD filtering allele frequency (99% confidence)
##gnomAD_HN=gnomAD number of homozygotes
##gnomAD_QC=gnomAD quality control filters that failed
##gnomAD_SRC=gnomAD source: E=exomes, G=genomes, T=total
##hmtvar_DiseaseScore=Disease score assigned by HmtVar
##mitoTip_Quartile=MitoTip Quartile
##mitoTip_Score=MitoTip Score
##ncER=ncER (https://www.nature.com/articles/s41467-019-13212-3) scores. This indicates the likelyhood of a location being essential in terms of regulation.
##ALT=<ID=CNV:TR,Description="Tandem repeat determined based on DNA abundance">
##VIP_Version=9.0.0
##VIP_Command=/<PATH_TO>/nextflow-25.10.2-dist -C /<PATH_TO>/vip/config/nxf_cram.config,/<PATH_TO>/vip/test/suites/cram/resources/nanopore_duo.cfg -log /<PATH_TO>/vip/test/output/cram/nanopore_duo/.nxf.log run /<PATH_TO>/vip/vip_cram.nf -offline -profile slurm -with-report /<PATH_TO>/vip/test/output/cram/nanopore_duo/nxf_report.html -with-timeline /<PATH_TO>/vip/test/output/cram/nanopore_duo/nxf_timeline.html --input /<PATH_TO>/vip/test/output/cram/nanopore_duo/samplesheet.tsv --output /<PATH_TO>/vip/test/output/cram/nanopore_duo -resume
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	Patient
chr1	149390803	.	G	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|NOTCH2NLC|100996717|Transcript|NM_001364012.2|protein_coding|1/5||||184-221/8737||||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|NOTCH2NLC|100996717|Transcript|NM_001364013.2|protein_coding|1/5||||184-221/8729|17-54/882|6-18/293||||1||1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000013370||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00524215322||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm;Disease=NIID;DisplayRU=CGG;END=149390841;HGNCId=53924;InheritanceMode=AD;REPID=NOTCH2NLC;RU_CAT=GGC;RankScore=1:10;STR_NORMAL_MAX=38;STR_PATHOLOGIC_MIN=66;STR_STATUS=normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2019-11-07;SourceId=NBK535148;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIG:VIPC_S:VIPP_S	1/1:33:33:GGC:13.6-17.4:1:18:GGC(20),CGCGCTGCTGTG(11),AAC(1),GCTCAGCTGTCGGCGCGCTGCTG(1):33:AR,AD:100996717:U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2
chr2	190880873	.	G	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|GLS|2744|Transcript|NM_001256310.2|protein_coding|1/15||||54-100/4488||||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||AD&AR|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|GLS|2744|Transcript|NM_014905.5|protein_coding|1/18||||54-100/4840||||||1||1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD&AR|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000127926||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522155961||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00008164746||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00207535362||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00525860781||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00105969646||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm;Disease=GDPAG;DisplayRU=GCA;END=190880920;HGNCId=4331;InheritanceMode=AR;REPID=GLS;RU_CAT=GCA;RankScore=1:10;STR_NORMAL_MAX=20;STR_PATHOLOGIC_MIN=90;STR_STATUS=normal;SVTYPE=STR;Source=PubMed;SourceDisplay=van_Kuilenburg_et_al_(2019)_NEJM_380_1433-1441;SourceId=30970188;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIG:VIPC_S:VIPP_S	1/1:51:51:GCA:12.6-13.4:1:13:GCA(30),AGCCTCAGTGCGG(21):51:AR,AD:2744:U2,U2,U2,U2,U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2
chr3	63912685	.	G	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN7|6314|Transcript|NM_000333.4|protein_coding|3/13||||664-692/7250|88-116/2679|30-39/892||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN7|6314|Transcript|NM_001177387.1|protein_coding|2/13||||198-226/6851|88-116/2838|30-39/945||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN7|6314|Transcript|NM_001377405.1|protein_coding|3/13||||490-518/7076|88-116/2679|30-39/892||||1||1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN7|6314|Transcript|NM_001377406.1|protein_coding|2/12||||169-197/6755|88-116/2679|30-39/892||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|SCAANT1|100861563|Transcript|NR_148359.1|antisense_RNA|||||||||||1|914|-1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000153622||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00197411295||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00211181983||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm;Disease=SCA7;DisplayRU=CAG;END=63912714;HGNCId=10560;InheritanceMode=AD;REPID=ATXN7;RU_CAT=GCA;RankScore=1:10;STR_NORMAL_MAX=19;STR_PATHOLOGIC_MIN=36;STR_STATUS=normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2019-11-07;SourceId=NBK535148;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIC:VIG:VIPC_S:VIPP_S	1/1:54:54:GCA:11.1-12.1:1:12:GCCGCGCCGAGCAGCGGCCGCG(2),GGC(1),GCCGCG(1),GCAGCAGCCGCCGCCACCGCAGCCACGGC(1),GCAGCCGCC(1),GCA(39),CAGCCGCCA(1),GCCGCGGCCGCCGGCAGCG(1),GCC(2),GCCGCGCCGCCCCGCGGCGGCGGCGGCAGCAGCAGCG(1),GCGGCCGCGGCCGCCCGGCAGCA(3),CCGCCACCG(1):54:AR,AD,AR_C:chr3_63912715_G_:100861563,6314:U2,U2,U2,U2,U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2
chr3	63912715	.	G	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN7|6314|Transcript|NM_000333.4|protein_coding|3/13||||694-704/7250|118-128/2679|40-43/892||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN7|6314|Transcript|NM_001177387.1|protein_coding|2/13||||228-238/6851|118-128/2838|40-43/945||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN7|6314|Transcript|NM_001377405.1|protein_coding|3/13||||520-530/7076|118-128/2679|40-43/892||||1||1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN7|6314|Transcript|NM_001377406.1|protein_coding|2/12||||199-209/6755|118-128/2679|40-43/892||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|upstream_gene_variant|MODIFIER|SCAANT1|100861563|Transcript|NR_148359.1|antisense_RNA|||||||||||1|944|-1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000153622||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00000009740||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm;END=63912726;REPID=ATXN7_GCC;RU_CAT=GCC;SVTYPE=STR;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIC:VIG:VIPC_S:VIPP_S	1/1:54:54:GCA:5.6-6.5:0:6:GCAGCAGCCGCCGCCACCGCAGCCACGGC(1),GCA(42),CCGCGCCGCCCCGCGGCGGCGGCGGCAGCAGCAGCGG(1),GCC(6),GCGGCCGCGGCCGCCCGGCAGCA(3),CGCCGGCAGCGGCCGCGGC(1):54:AR,AD,AR_C:chr3_63912685_G_:100861563,6314:U2,U2,U2,U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2
chr3	129172577	.	C	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&intron_variant|HIGH|CNBP|7555|Transcript|NM_001127192.2|protein_coding||1/4|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|CNBP|7555|Transcript|NM_001127193.2|protein_coding||1/4|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|CNBP|7555|Transcript|NM_001127194.2|protein_coding||1/4|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|CNBP|7555|Transcript|NM_001127195.2|protein_coding||1/4|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|CNBP|7555|Transcript|NM_001127196.2|protein_coding||1/4|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|CNBP|7555|Transcript|NM_003418.5|protein_coding||1/4|||||||||1||-1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb;Disease=DM2;DisplayRU=CCTG;END=129172656;HGNCId=13164;InheritanceMode=AD;REPID=CNBP;RU_CAT=CAGG;RankScore=1:10;STR_NORMAL_MAX=30;STR_PATHOLOGIC_MIN=75;STR_STATUS=normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2020-03-19;SourceId=NBK1466;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIC:VIG:VIPC_S:VIPP_S	1/1:57:57:CAGA:15.3-16.0:0:16:CAGG(2),CAGA(55):57:AR,AD,AR_C:chr3_129172657_C_,chr3_129172697_C_:7555:U2,U2,U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2
chr3	129172657	.	C	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&intron_variant|HIGH|CNBP|7555|Transcript|NM_001127192.2|protein_coding||1/4|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|feature_elongation&intron_variant|HIGH|CNBP|7555|Transcript|NM_001127193.2|protein_coding||1/4|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|feature_elongation&intron_variant|HIGH|CNBP|7555|Transcript|NM_001127194.2|protein_coding||1/4|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|feature_elongation&intron_variant|HIGH|CNBP|7555|Transcript|NM_001127195.2|protein_coding||1/4|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|feature_elongation&intron_variant|HIGH|CNBP|7555|Transcript|NM_001127196.2|protein_coding||1/4|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|feature_elongation&intron_variant|HIGH|CNBP|7555|Transcript|NM_003418.5|protein_coding||1/4|||||||||1||-1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus;END=129172696;REPID=CNBP_CAGA;RU_CAT=CAGA;SVTYPE=STR;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIC:VIG:VIPC_S:VIPP_S	1/1:57:57:CAGA:5.7-6.4:1:6:CAGG(3),CAGA(54):57:AR,AD,AR_C:chr3_129172577_C_,chr3_129172697_C_:7555:U2,U2,U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2
chr3	129172697	.	C	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&intron_variant|HIGH|CNBP|7555|Transcript|NM_001127192.2|protein_coding||1/4|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|feature_elongation&intron_variant|HIGH|CNBP|7555|Transcript|NM_001127193.2|protein_coding||1/4|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|feature_elongation&intron_variant|HIGH|CNBP|7555|Transcript|NM_001127194.2|protein_coding||1/4|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|feature_elongation&intron_variant|HIGH|CNBP|7555|Transcript|NM_001127195.2|protein_coding||1/4|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|feature_elongation&intron_variant|HIGH|CNBP|7555|Transcript|NM_001127196.2|protein_coding||1/4|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|feature_elongation&intron_variant|HIGH|CNBP|7555|Transcript|NM_003418.5|protein_coding||1/4|||||||||1||-1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus;END=129172732;REPID=CNBP_CA;RU_CAT=CA;SVTYPE=STR;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIC:VIG:VIPC_S:VIPP_S	1/1:57:57:CA:12.1-13.8:1:14:CA(57):57:AR,AD,AR_C:chr3_129172577_C_,chr3_129172657_C_:7555:U2,U2,U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2
chr4	39348425	.	A	<CNV:TR1>,<CNV:TR2>	.	PASS	CSQ=tandem_duplication|feature_elongation&intron_variant|HIGH|RFC1|5981|Transcript|NM_001204747.2|protein_coding||2/24|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AR|||||||||||||||||||||||||||||LP|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lp,tandem_duplication|feature_elongation&intron_variant|HIGH|RFC1|5981|Transcript|NM_001363495.2|protein_coding||2/23|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AR|||||||||||||||||||||||||||||LP|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lp,tandem_duplication|feature_elongation&intron_variant|HIGH|RFC1|5981|Transcript|NM_001363496.2|protein_coding||2/23|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AR|||||||||||||||||||||||||||||LP|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lp,tandem_duplication|feature_elongation&intron_variant|HIGH|RFC1|5981|Transcript|NM_002913.5|protein_coding||2/24|||||||||1||-1||1|EntrezGene||||||||||||||||||||||||||||||||||||AR|||||||||||||||||||||||||||||LP|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lp,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000721896||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|feature_elongation&intron_variant|HIGH|RFC1|5981|Transcript|NM_001204747.2|protein_coding||2/24|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AR|||||||||||||||||||||||||||||LP|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lp,tandem_duplication|feature_elongation&intron_variant|HIGH|RFC1|5981|Transcript|NM_001363495.2|protein_coding||2/23|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AR|||||||||||||||||||||||||||||LP|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lp,tandem_duplication|feature_elongation&intron_variant|HIGH|RFC1|5981|Transcript|NM_001363496.2|protein_coding||2/23|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AR|||||||||||||||||||||||||||||LP|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lp,tandem_duplication|feature_elongation&intron_variant|HIGH|RFC1|5981|Transcript|NM_002913.5|protein_coding||2/24|||||||||2||-1||1|EntrezGene||||||||||||||||||||||||||||||||||||AR|||||||||||||||||||||||||||||LP|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lp,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000721896||||||||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm;Disease=CANVAS;DisplayRU=AARRG;END=39348479;HGNCId=9969;InheritanceMode=AR;REPID=RFC1;RU_CAT=AARRG;RankScore=1:30;STR_NORMAL_MAX=11;STR_PATHOLOGIC_MIN=12;STR_STATUS=full_mutation,full_mutation;SVTYPE=STR;Source=PubMed;SourceDisplay=Cortese_et_al_2019_Nat_Gen;SourceId=30926972;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIAB:VIG:VIPC_S:VIPP_S	1/2:29,23:52:AAAAG:112.6-114.6,11.7-12.1:1:114,12:AAAAG(52):29,23:AR,AD:0.557692:5981:U2,U2,U2,U2,U2,U2,U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2
chr4	41745973	.	G	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|PHOX2B|8929|Transcript|NM_003924.4|protein_coding|3/3||||835-893/2785|720-778/945|240-260/314||||1||-1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb;Disease=CCHS;DisplayRU=GCN;END=41746032;HGNCId=9143;InheritanceMode=AD;REPID=PHOX2B;RU_CAT=GCN;RankScore=1:10;STR_NORMAL_MAX=20;STR_PATHOLOGIC_MIN=25;STR_STATUS=normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2014-01-30;SourceId=NBK1427;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIG:VIPC_S:VIPP_S	1/1:62:62:GCTGCCGCC:6.0-6.4:0:6:GCCGCCGCTGCCGCGGCCGCC(2),GCTGCCGCC(54),GCCGCA(1),CCGCCGCCC(1),GCC_GCCGCCGCTGCCGCGCCGCC(4):62:AR,AD:8929:U2:gt&gq&only_IP&vig&vim&exit_u2
chr5	146878728	.	G	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&intron_variant|HIGH|PPP2R2B|5521|Transcript|NM_001271899.1|protein_coding||2/9|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|PPP2R2B|5521|Transcript|NM_001271900.2|protein_coding||2/10|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|PPP2R2B|5521|Transcript|NM_001271948.2|protein_coding|1/10||||1-29/11308||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|PPP2R2B|5521|Transcript|NM_181674.3|protein_coding||1/9|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|PPP2R2B|5521|Transcript|NM_181675.4|protein_coding|1/10||||1-29/10828||||||1||-1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|PPP2R2B|5521|Transcript|NM_181676.3|protein_coding||1/8|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|PPP2R2B|5521|Transcript|NM_181677.2|protein_coding||3/10|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|PPP2R2B|5521|Transcript|NM_181678.2|protein_coding||2/10|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|PPP2R2B|5521|Transcript|NR_073526.2|misc_RNA|1/9||||1-29/11223||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|PPP2R2B|5521|Transcript|NR_073527.2|misc_RNA|1/10||||1-29/10718||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001261893||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00195551292||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm;Disease=SCA12;DisplayRU=CAG;END=146878757;HGNCId=9305;InheritanceMode=AD;REPID=PPP2R2B;RU_CAT=GCT;RankScore=1:10;STR_NORMAL_MAX=32;STR_PATHOLOGIC_MIN=51;STR_STATUS=normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2019-11-07;SourceId=NBK535148;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIG:VIPC_S:VIPP_S	1/1:40:40:GCT:9.9-10.5:1:10:GCGCGCACCCCC(1),GCTGCTGCAGGAGGCGAGGCG(1),AGCTGGCGGGG(1),GGAGCTGGCAG(1),GCT_GGGAGCTGGGCA(1),GCT(30),GCTGGAGGCG(1),CGCGCGCACTCACA(1),AGCTGGCAGGG(2),CGCACT(1):40:AR,AD:5521:U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2
chr6	16327634	.	T	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN1|6310|Transcript|NM_000332.4|protein_coding|8/9||||1529-1617/10606|588-676/2448|196-226/815||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN1|6310|Transcript|NM_001128164.2|protein_coding|7/8||||1480-1568/10557|588-676/2448|196-226/815||||1||-1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&3_prime_UTR_variant|HIGH|ATXN1|6310|Transcript|NM_001357857.2|protein_coding|8/9||||1529-1617/10606||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|downstream_gene_variant|MODIFIER|LOC127903862|127903862|Transcript|NM_001414722.1|protein_coding|||||||||||1|619|-1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb;Disease=SCA1;DisplayRU=CAG;END=16327723;HGNCId=10548;InheritanceMode=AD;REPID=ATXN1;RU_CAT=TGC;RankScore=1:10;STR_NORMAL_MAX=35;STR_PATHOLOGIC_MIN=45;STR_STATUS=normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2017-06-22;SourceId=NBK1184;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIG:VIPC_S:VIPP_S	1/1:40:40:TGC:30.3-30.8:1:31:TGC(40):40:AR,AD:6310:U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2
chr6	170561907	.	G	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|TBP|6908|Transcript|NM_001172085.2|protein_coding|2/7||||213-322/1655|112-221/960|38-74/319||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||AD&AR|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|TBP|6908|Transcript|NM_003194.5|protein_coding|3/8||||415-524/1857|172-281/1020|58-94/339||||1||1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD&AR|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001120219||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm;Disease=SCA17;DisplayRU=CAN;END=170562017;HGNCId=11588;InheritanceMode=AD;REPID=TBP;RU_CAT=GCA;RankScore=1:10;STR_NORMAL_MAX=40;STR_PATHOLOGIC_MIN=49;STR_STATUS=normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2019-09-12;SourceId=NBK1438;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIG:VIPC_S:VIPP_S	1/1:40:40:GCA:35.9-36.5:1:36:GCA(40):40:AR,AD:6908:U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2
chr9	69037262	.	A	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&intron_variant|HIGH|FXN|2395|Transcript|NM_000144.5|protein_coding||1/4|||||||||1||1||1|EntrezGene||||||||||||||||||||||||||||||||||||AR|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|feature_elongation&intron_variant|HIGH|FXN|2395|Transcript|NM_181425.3|protein_coding||1/4|||||||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||AR|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus;END=69037286;REPID=FXN_A;RU_CAT=A;SVTYPE=STR;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIC:VIG:VIPC_S:VIPP_S	1/1:35:35:AAAAAAGA:3.9-4.5:0:4:TACAAAAAAA(2),AAAATAAAGAAAGAAGAAG(1),AAAAGAAGA(2),AAAAAAAAGAAAAGAAG(1),AAAAAAGA(27),AAG(1),AAAAAAAAGAAAAAGAAAG_AAAAAG(1):35:AR,AD,AR_C:chr9_69037287_G_:2395:U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2
chr9	69037287	.	G	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&intron_variant|HIGH|FXN|2395|Transcript|NM_000144.5|protein_coding||1/4|||||||||1||1||1|EntrezGene||||||||||||||||||||||||||||||||||||AR|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|FXN|2395|Transcript|NM_181425.3|protein_coding||1/4|||||||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||AR|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb;Disease=FRDA;DisplayRU=GAA;END=69037304;HGNCId=3951;InheritanceMode=AR;REPID=FXN;RU_CAT=GAA;RankScore=1:10;STR_NORMAL_MAX=35;STR_PATHOLOGIC_MIN=51;STR_STATUS=normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2019-11-07;SourceId=NBK535148;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIC:VIG:VIPC_S:VIPP_S	1/1:35:35:AAAAAAGA:3.6-4.9:0:4:TACAAAAAAA(2),AAAAAAGA(27),GAA(5),AAAAAAAAGAAAAAGAAAG_AAAAAG(1):35:AR,AD,AR_C:chr9_69037262_A_:2395:U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2
chr12	6936717	.	C	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATN1|1822|Transcript|NM_001007026.2|protein_coding|5/10||||1692-1747/4355|1451-1506/3573|484-502/1190||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATN1|1822|Transcript|NM_001940.4|protein_coding|5/10||||2039-2094/4702|1451-1506/3573|484-502/1190||||1||1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000048373||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm;Disease=DRPLA;DisplayRU=CAG;END=6936773;HGNCId=3033;InheritanceMode=AD;REPID=ATN1;RU_CAT=CAG;RankScore=1:10;STR_NORMAL_MAX=35;STR_PATHOLOGIC_MIN=48;STR_STATUS=normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2019-11-07;SourceId=NBK535148;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIG:VIPC_S:VIPP_S	1/1:49:49:CAG:17.5-18.3:1:18:CAG(49):49:AR,AD:1822:U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2
chr12	111598950	.	G	<CNV:TR1>,<CNV:TR2>	.	PASS	CSQ=tandem_duplication|feature_elongation&intron_variant|HIGH|ATXN2|6311|Transcript|NM_001310121.1|protein_coding||1/25|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|ATXN2|6311|Transcript|NM_001310123.1|protein_coding||1/21|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN2|6311|Transcript|NM_001372574.1|protein_coding|1/25||||298-365/4347|17-84/3468|6-28/1155||||1||-1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN2|6311|Transcript|NM_002973.4|protein_coding|1/25||||298-365/4341|17-84/3462|6-28/1153||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN2|6311|Transcript|NR_132311.2|misc_RNA|1/24||||298-365/4280||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|ATXN2-AS|102723619|Transcript|NR_146497.1|lncRNA|||||||||||1|480|1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000057455||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|feature_elongation&intron_variant|HIGH|ATXN2|6311|Transcript|NM_001310121.1|protein_coding||1/25|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|ATXN2|6311|Transcript|NM_001310123.1|protein_coding||1/21|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN2|6311|Transcript|NM_001372574.1|protein_coding|1/25||||298-365/4347|17-84/3468|6-28/1155||||2||-1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN2|6311|Transcript|NM_002973.4|protein_coding|1/25||||298-365/4341|17-84/3462|6-28/1153||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN2|6311|Transcript|NR_132311.2|misc_RNA|1/24||||298-365/4280||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|ATXN2-AS|102723619|Transcript|NR_146497.1|lncRNA|||||||||||2|480|1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000057455||||||||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm;Disease=SCA2;DisplayRU=CAG;END=111599018;HGNCId=10555;InheritanceMode=AD;REPID=ATXN2;RU_CAT=GCT;RankScore=1:10;STR_NORMAL_MAX=31;STR_PATHOLOGIC_MIN=37;STR_STATUS=normal,normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2019-02-14;SourceId=NBK1275;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIAB:VIG:VIPC_S:VIPP_S	1/2:32,31:63:GCT:29.9-30.5,21.7-22.3:1:30,22:GCT(63):32,31:AR,AD:0.507937:6311:U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2
chr13	70139354	.	C	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN8OS|6315|Transcript|NR_002717.2|antisense_RNA|5/5||||1074-1102/1472||||||1||1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus;END=70139383;REPID=ATXN8OS_CTA;RU_CAT=CTA;SVTYPE=STR;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIC:VIG:VIPC_S:VIPP_S	1/1:40:40:CTG:9.5-10.4:0:10:CTA(1),CTG(38),TCTATTTA(1):40:AR,AD,AR_C:chr13_70139384_C_:6315:U2:gt&gq&only_IP&vig&vim&exit_u2
chr13	70139384	.	C	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN8OS|6315|Transcript|NR_002717.2|antisense_RNA|5/5||||1104-1147/1472||||||1||1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb;Disease=SCA8;DisplayRU=CTG;END=70139428;HGNCId=10561;InheritanceMode=AD;REPID=ATXN8OS;RU_CAT=CTG;RankScore=1:10;STR_NORMAL_MAX=50;STR_PATHOLOGIC_MIN=80;STR_STATUS=normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2019-11-07;SourceId=NBK535148;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIC:VIG:VIPC_S:VIPP_S	1/1:40:40:CTG:14.3-15.3:1:15:TAC(1),CTG(38),TCTATTTA(1):40:AR,AD,AR_C:chr13_70139354_C_:6315:U2:gt&gq&only_IP&vig&vim&exit_u2
chr14	23321473	.	G	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&intron_variant|HIGH|BCL2L2-PABPN1|100529063|Transcript|NM_001199864.3|protein_coding||3/8|||||||||1||1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|PABPN1|8106|Transcript|NM_001360551.3|protein_coding|1/6||||18-34/2768|5-21/891|2-7/296||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||AD&AR|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|PABPN1|8106|Transcript|NM_001360552.2|protein_coding|||||||||||1|516|1|||EntrezGene||||||||||||||||||||||||||||||||||||AD&AR|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|BCL2L2-PABPN1|100529063|Transcript|NM_001387340.1|protein_coding||4/9|||||||||1||1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|BCL2L2-PABPN1|100529063|Transcript|NM_001387341.1|protein_coding||4/9|||||||||1||1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|BCL2L2-PABPN1|100529063|Transcript|NM_001387342.1|protein_coding||4/9|||||||||1||1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|BCL2L2-PABPN1|100529063|Transcript|NM_001387343.1|protein_coding||4/8|||||||||1||1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|BCL2L2-PABPN1|100529063|Transcript|NM_001387344.1|protein_coding||4/8|||||||||1||1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|BCL2L2-PABPN1|100529063|Transcript|NM_001387345.1|protein_coding||3/7|||||||||1||1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|BCL2L2-PABPN1|100529063|Transcript|NM_001387346.1|protein_coding||3/7|||||||||1||1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|PABPN1|8106|Transcript|NM_004643.4|protein_coding|1/7||||18-34/1811|5-21/921|2-7/306||||1||1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD&AR|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000066726||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm;Disease=OPMD;DisplayRU=GCN;END=23321490;HGNCId=8565;InheritanceMode=AD;REPID=PABPN1;RU_CAT=GCG;RankScore=1:10;STR_NORMAL_MAX=10;STR_PATHOLOGIC_MIN=11;STR_STATUS=normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2020-10-22;SourceId=NBK1126;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIG:VIPC_S:VIPP_S	1/1:44:44:GCG:5.9-6.5:1:6:GGGCGGCGGGCCCCAGTCAGAGCGGGCGATGCGGGCGGGGC(1),GCGGGGGCT(1),GCG(42):44:AR,AD:8106:U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2:gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2
chr14	92071010	.	C	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN3|4287|Transcript|NM_001127696.2|protein_coding|9/10||||869-900/6839|839-870/1041|280-290/346||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN3|4287|Transcript|NM_001127697.3|protein_coding|8/9||||761-792/6731|731-762/933|244-254/310||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN3|4287|Transcript|NM_001164774.2|protein_coding|3/4||||231-262/6201|201-232/267|67-78/88||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN3|4287|Transcript|NM_001164776.2|protein_coding|4/5||||276-307/6246|246-277/312|82-93/103||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN3|4287|Transcript|NM_001164777.2|protein_coding|3/4||||111-142/6081|81-112/147|27-38/48||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN3|4287|Transcript|NM_001164778.2|protein_coding|6/7||||429-460/6399|399-430/465|133-144/154||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN3|4287|Transcript|NM_001164779.2|protein_coding|6/7||||551-582/6521|521-552/723|174-184/240||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN3|4287|Transcript|NM_001164780.2|protein_coding|7/8||||618-649/6588|347-378/549|116-126/182||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN3|4287|Transcript|NM_001164781.2|protein_coding|8/9||||704-735/6674|674-705/876|225-235/291||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN3|4287|Transcript|NM_001164782.2|protein_coding|2/3||||66-97/6036|36-67/102|12-23/33||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN3|4287|Transcript|NM_004993.6|protein_coding|10/11||||914-945/6884|884-915/1086|295-305/361||||1||-1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|ATXN3|4287|Transcript|NM_030660.5|protein_coding|9/10||||749-780/6719|719-750/921|240-250/306||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN3|4287|Transcript|NR_028453.2|misc_RNA|9/10||||828-859/6798||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN3|4287|Transcript|NR_028454.2|misc_RNA|8/9||||663-694/6633||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN3|4287|Transcript|NR_028455.2|misc_RNA|10/11||||882-913/6852||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN3|4287|Transcript|NR_028456.2|misc_RNA|9/10||||717-748/6687||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN3|4287|Transcript|NR_028457.2|misc_RNA|11/12||||973-1004/6943||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN3|4287|Transcript|NR_028458.2|misc_RNA|9/10||||817-848/6787||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN3|4287|Transcript|NR_028459.2|misc_RNA|11/12||||968-999/6938||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN3|4287|Transcript|NR_028460.2|misc_RNA|5/6||||343-374/6313||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN3|4287|Transcript|NR_028461.2|misc_RNA|9/10||||826-857/6796||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN3|4287|Transcript|NR_028462.2|misc_RNA|9/10||||805-836/6775||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN3|4287|Transcript|NR_028463.2|misc_RNA|6/7||||517-548/6487||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN3|4287|Transcript|NR_028464.2|misc_RNA|9/10||||815-846/6785||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN3|4287|Transcript|NR_028465.2|misc_RNA|9/10||||837-868/6807||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN3|4287|Transcript|NR_028466.2|misc_RNA|5/6||||463-494/6433||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN3|4287|Transcript|NR_028467.2|misc_RNA|9/10||||829-860/6799||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN3|4287|Transcript|NR_028468.2|misc_RNA|8/9||||661-692/6631||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN3|4287|Transcript|NR_028469.2|misc_RNA|8/9||||675-706/6645||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN3|4287|Transcript|NR_028470.2|misc_RNA|3/4||||133-164/6103||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|ATXN3|4287|Transcript|NR_031765.2|misc_RNA|4/5||||330-361/6300||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb;Disease=MJD;DisplayRU=CAG;END=92071042;HGNCId=7106;InheritanceMode=AD;REPID=ATXN3;RU_CAT=GCT;RankScore=1:10;STR_NORMAL_MAX=44;STR_PATHOLOGIC_MIN=60;STR_STATUS=normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2019-11-07;SourceId=NBK535148;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIG:VIPC_S:VIPP_S	1/1:50:50:CTG:20.9-22.2:1:22:CTG(50):50:AR,AD:4287:U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2
chr15	22786678	.	G	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&intron_variant|HIGH|NIPA1|123606|Transcript|NM_001142275.1|protein_coding||1/4|||||||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|NIPA1|123606|Transcript|NM_144599.5|protein_coding|1/5||||36-58/6553|23-45/990|8-15/329||||1||1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000073999||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm;Disease=ALS_-_susceptibility_to;DisplayRU=GCG;END=22786701;HGNCId=17043;InheritanceMode=AD;REPID=NIPA1;RU_CAT=GCG;RankScore=1:20;STR_NORMAL_MAX=8;STR_PATHOLOGIC_MIN=10000;STR_STATUS=pre_mutation;SVTYPE=STR;Source=PubMed;SourceDisplay=Tazelaar_et_al_(2019)_Neurobiol_Aging_74_234.e9-234.e15;SourceId=30342764;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIG:VIPC_S:VIPP_S	1/1:39:39:GCG:10.3-11.8:1:13:GCAGCGGCG_GGGC(1),GCG(37),GGCGCGGCGCGCA(1):39:AR,AD:123606:U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2
chr16	87604288	.	C	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|JPH3|57338|Transcript|NM_001271604.4|protein_coding|2/2||||1071-1111/1410|432-472/561|144-158/186||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&3_prime_UTR_variant|HIGH|JPH3|57338|Transcript|NM_001271605.3|protein_coding|2/2||||1222-1262/1561||||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|JPH3|57338|Transcript|NM_020655.4|protein_coding||1/4|||||||||1||1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant&non_coding_transcript_variant|HIGH|JPH3|57338|Transcript|NR_073379.3|misc_RNA||1/5|||||||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb;Disease=HDL2;DisplayRU=CTG;END=87604329;HGNCId=14203;InheritanceMode=AD;REPID=JPH3;RU_CAT=CTG;RankScore=1:10;STR_NORMAL_MAX=28;STR_PATHOLOGIC_MIN=40;STR_STATUS=normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2019-06-27;SourceId=NBK1529;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIG:VIPC_S:VIPP_S	1/1:37:37:CTG:15.7-16.4:1:16:CTG(37):37:AR,AD:57338:U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2
chr18	55586156	.	C	<CNV:TR1>,<CNV:TR2>	.	PASS	CSQ=tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001083962.2|protein_coding||2/19|||||||||1||-1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001243226.3|protein_coding||3/20|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001243227.2|protein_coding||1/18|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001243228.2|protein_coding||2/19|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001243230.2|protein_coding||1/18|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|TCF4|6925|Transcript|NM_001306207.1|protein_coding|||||||||||1|38|-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001330604.3|protein_coding||2/19|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|TCF4|6925|Transcript|NM_001348217.1|protein_coding|||||||||||1|38|-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|TCF4|6925|Transcript|NM_001348218.2|protein_coding|||||||||||1|35|-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|TCF4|6925|Transcript|NM_001348219.2|protein_coding|||||||||||1|35|-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|TCF4|6925|Transcript|NM_001348220.1|protein_coding|||||||||||1|38|-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369567.1|protein_coding||2/19|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369568.1|protein_coding||2/19|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369569.1|protein_coding||2/19|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369570.1|protein_coding||2/19|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369571.1|protein_coding||2/19|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369572.1|protein_coding||2/19|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369573.1|protein_coding||2/19|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369574.1|protein_coding||2/19|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369575.1|protein_coding||1/18|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369576.1|protein_coding||1/18|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369577.1|protein_coding||1/18|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369578.1|protein_coding||1/18|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369579.1|protein_coding||1/18|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|TCF4|6925|Transcript|NM_001369580.1|protein_coding|||||||||||1|35|-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|TCF4|6925|Transcript|NM_001369581.1|protein_coding|||||||||||1|35|-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369582.1|protein_coding||1/18|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369583.1|protein_coding||1/18|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369584.1|protein_coding||1/18|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369585.1|protein_coding||1/18|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369586.1|protein_coding||1/18|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_003199.3|protein_coding||2/19|||||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000103605||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001083962.2|protein_coding||2/19|||||||||2||-1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001243226.3|protein_coding||3/20|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001243227.2|protein_coding||1/18|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001243228.2|protein_coding||2/19|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001243230.2|protein_coding||1/18|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|TCF4|6925|Transcript|NM_001306207.1|protein_coding|||||||||||2|38|-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001330604.3|protein_coding||2/19|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|TCF4|6925|Transcript|NM_001348217.1|protein_coding|||||||||||2|38|-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|TCF4|6925|Transcript|NM_001348218.2|protein_coding|||||||||||2|35|-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|TCF4|6925|Transcript|NM_001348219.2|protein_coding|||||||||||2|35|-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|TCF4|6925|Transcript|NM_001348220.1|protein_coding|||||||||||2|38|-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369567.1|protein_coding||2/19|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369568.1|protein_coding||2/19|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369569.1|protein_coding||2/19|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369570.1|protein_coding||2/19|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369571.1|protein_coding||2/19|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369572.1|protein_coding||2/19|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369573.1|protein_coding||2/19|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369574.1|protein_coding||2/19|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369575.1|protein_coding||1/18|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369576.1|protein_coding||1/18|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369577.1|protein_coding||1/18|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369578.1|protein_coding||1/18|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369579.1|protein_coding||1/18|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|TCF4|6925|Transcript|NM_001369580.1|protein_coding|||||||||||2|35|-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|TCF4|6925|Transcript|NM_001369581.1|protein_coding|||||||||||2|35|-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369582.1|protein_coding||1/18|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369583.1|protein_coding||1/18|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369584.1|protein_coding||1/18|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369585.1|protein_coding||1/18|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_001369586.1|protein_coding||1/18|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|TCF4|6925|Transcript|NM_003199.3|protein_coding||2/19|||||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000103605||||||||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm;Disease=FECD3;DisplayRU=CTG;END=55586227;HGNCId=11634;InheritanceMode=AD;REPID=TCF4;RU_CAT=CAG;RankScore=1:10;STR_NORMAL_MAX=39;STR_PATHOLOGIC_MIN=100;STR_STATUS=normal,normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2019-11-07;SourceId=NBK535148;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIAB:VIG:VIPC_S:VIPP_S	1/2:29,25:54:CAG:31.6-32.3,12.7-13.9:1:32,13:GGA(1),GAGGAGAGGAGGAGCAG(1),CAG(52):29,25:AR,AD:0.537037:6925:U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2
chr19	13207859	.	C	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&3_prime_UTR_variant|HIGH|CACNA1A|773|Transcript|NM_000068.4|protein_coding|48/48||||7205-7242/8660||||||1||-1|||EntrezGene|||||||||||||||||||||||||||||||||||1|AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&3_prime_UTR_variant|HIGH|CACNA1A|773|Transcript|NM_001127221.2|protein_coding|47/47||||7190-7227/8645||||||1||-1|||EntrezGene|||||||||||||||||||||||||||||||||||1|AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|CACNA1A|773|Transcript|NM_001127222.2|protein_coding|47/47||||7192-7229/8647|6937-6974/7521|2313-2325/2506||||1||-1||1|EntrezGene|||||||||||||||||||||||||||||||||||1|AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&3_prime_UTR_variant|HIGH|CACNA1A|773|Transcript|NM_001174080.2|protein_coding|48/48||||7196-7233/8651||||||1||-1|||EntrezGene|||||||||||||||||||||||||||||||||||1|AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|CACNA1A|773|Transcript|NM_023035.3|protein_coding|48/48||||7210-7247/8665|6955-6992/7539|2319-2331/2512||||1||-1|||EntrezGene|||||||||||||||||||||||||||||||||||1|AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb;Disease=SCA6;DisplayRU=CAG;END=13207897;HGNCId=1388;InheritanceMode=AD;REPID=CACNA1A;RU_CAT=CTG;RankScore=1:10;STR_NORMAL_MAX=18;STR_PATHOLOGIC_MIN=20;STR_STATUS=normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2019-11-07;SourceId=NBK535148;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIG:VIPC_S:VIPP_S	1/1:63:63:CTG:10.5-11.2:1:11:CTG(62),TGGCCCGCC(1):63:AR,AD:773:U2,U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2
chr19	14496042	.	C	<CNV:TR1>,<CNV:TR2>	.	PASS	CSQ=tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|GIPC1|10755|Transcript|NM_005716.4|protein_coding|1/9||||54-85/1921||||||1||-1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|GIPC1|10755|Transcript|NM_202468.3|protein_coding|1/8||||54-85/1865||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|GIPC1|10755|Transcript|NM_202469.3|protein_coding|1/7||||54-85/1547||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|GIPC1|10755|Transcript|NM_202470.3|protein_coding|1/7||||54-85/1777||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|GIPC1|10755|Transcript|NM_202494.3|protein_coding|1/6||||54-85/1459||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000107548||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00524479476||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00523228879||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00202330410||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522098195||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00180296361||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|GIPC1|10755|Transcript|NM_005716.4|protein_coding|1/9||||54-85/1921||||||2||-1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|GIPC1|10755|Transcript|NM_202468.3|protein_coding|1/8||||54-85/1865||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|GIPC1|10755|Transcript|NM_202469.3|protein_coding|1/7||||54-85/1547||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|GIPC1|10755|Transcript|NM_202470.3|protein_coding|1/7||||54-85/1777||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|GIPC1|10755|Transcript|NM_202494.3|protein_coding|1/6||||54-85/1459||||||2||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000107548||||||||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00524479476||||||||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00523228879||||||||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00202330410||||||||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522098195||||||||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00180296361||||||||||||2||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm;Disease=OPDM2;DisplayRU=GGC;END=14496074;HGNCId=1226;InheritanceMode=AD;REPID=GIPC1;RU_CAT=CCG;RankScore=1:10;STR_NORMAL_MAX=32;STR_PATHOLOGIC_MIN=73;STR_STATUS=normal,normal;SVTYPE=STR;Source=PubMed;SourceDisplay=Deng_et_al_2020_AJHG_106(6)_793-804;SourceId=32413282;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIAB:VIG:VIPC_S:VIPP_S	1/2:20,38:58:CCG:15.7-15.7,11.3-12.6:1:16,11:CCGCCGCAGCCTCCGCCTCC(1),CCG(57):20,38:AR,AD:0.344828:10755:U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2
chr19	45770205	.	C	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&3_prime_UTR_variant|HIGH|DMPK|1760|Transcript|NM_001081560.3|protein_coding|15/15||||2237-2295/2784||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD&AR|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&3_prime_UTR_variant|HIGH|DMPK|1760|Transcript|NM_001081562.3|protein_coding|15/15||||2233-2291/2780||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD&AR|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&3_prime_UTR_variant|HIGH|DMPK|1760|Transcript|NM_001081563.2|protein_coding|14/14||||2688-2746/3243||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD&AR|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&3_prime_UTR_variant|HIGH|DMPK|1760|Transcript|NM_001288764.2|protein_coding|16/16||||2311-2369/2858||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD&AR|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&3_prime_UTR_variant|HIGH|DMPK|1760|Transcript|NM_001288765.2|protein_coding|13/13||||1955-2013/2502||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD&AR|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&3_prime_UTR_variant|HIGH|DMPK|1760|Transcript|NM_001288766.2|protein_coding|13/13||||2100-2158/2647||||||1||-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD&AR|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&3_prime_UTR_variant|HIGH|DMPK|1760|Transcript|NM_004409.5|protein_coding|15/15||||2252-2310/2799||||||1||-1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD&AR|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|SIX5|147912|Transcript|NM_175875.5|protein_coding|||||||||||1|954|-1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant&non_coding_transcript_variant|HIGH|DM1-AS|109729182|Transcript|NR_147193.1|lncRNA||1/1|||||||||1||1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00001221403||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000591473||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00207169291||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00087660738||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522701496||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00207195006||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00521947908||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm;Disease=DM1;DisplayRU=CTG;END=45770264;HGNCId=2933;InheritanceMode=AD;REPID=DMPK;RU_CAT=CAG;RankScore=1:10;STR_NORMAL_MAX=34;STR_PATHOLOGIC_MIN=50;STR_STATUS=normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2019-10-03;SourceId=NBK1165;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIG:VIPC_S:VIPP_S	1/1:40:40:CAG:10.7-11.3:1:11:CAG(40):40:AR,AD:147912,1760:U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2
chr20	2652734	.	G	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&intron_variant|HIGH|NOP56|10528|Transcript|NM_006392.4|protein_coding||1/11|||||||||1||1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|SNORD57|26792|Transcript|NR_002738.1|snoRNA|||||||||||1|4182|1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|SNORD56|26793|Transcript|NR_002739.1|snoRNA|||||||||||1|3867|1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|SNORA51|677831|Transcript|NR_002981.1|snoRNA|||||||||||1|2310|1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|SNORD110|692213|Transcript|NR_003078.1|snoRNA|||||||||||1|1455|1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|SNORD86|692201|Transcript|NR_004399.1|snoRNA|||||||||||1|3340|1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant&non_coding_transcript_variant|HIGH|NOP56|10528|Transcript|NR_027700.3|misc_RNA||1/11|||||||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|MIR1292|100302138|Transcript|NR_031699.1|miRNA|||||||||||1|20|1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant&non_coding_transcript_variant|HIGH|NOP56|10528|Transcript|NR_145428.2|misc_RNA||1/12|||||||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000133685||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00190349373||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm;Disease=SCA36;DisplayRU=GGCCTG;END=2652757;HGNCId=15911;InheritanceMode=AD;REPID=NOP56;RU_CAT=GGCCTG;RankScore=1:10;STR_NORMAL_MAX=14;STR_PATHOLOGIC_MIN=650;STR_STATUS=normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2014-08-07;SourceId=NBK231880;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIC:VIG:VIPC_S:VIPP_S	1/1:48:48:GGCCTG:5.5-6.1:1:5:GGCCTG(47),GGCCTGCGCCGGGCCTGAGACAGAGCCTG(1):48:AR,AD,AR_C:chr20_2652758_C_:100302138,10528,26792,26793,677831,692201,692213:U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2
chr20	2652758	.	C	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&intron_variant|HIGH|NOP56|10528|Transcript|NM_006392.4|protein_coding||1/11|||||||||1||1||1|EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|upstream_gene_variant|MODIFIER|SNORD57|26792|Transcript|NR_002738.1|snoRNA|||||||||||1|4164|1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|upstream_gene_variant|MODIFIER|SNORD56|26793|Transcript|NR_002739.1|snoRNA|||||||||||1|3849|1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|upstream_gene_variant|MODIFIER|SNORA51|677831|Transcript|NR_002981.1|snoRNA|||||||||||1|2292|1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|upstream_gene_variant|MODIFIER|SNORD110|692213|Transcript|NR_003078.1|snoRNA|||||||||||1|1437|1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|upstream_gene_variant|MODIFIER|SNORD86|692201|Transcript|NR_004399.1|snoRNA|||||||||||1|3322|1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|feature_elongation&intron_variant&non_coding_transcript_variant|HIGH|NOP56|10528|Transcript|NR_027700.3|misc_RNA||1/11|||||||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|upstream_gene_variant|MODIFIER|MIR1292|100302138|Transcript|NR_031699.1|miRNA|||||||||||1|2|1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|feature_elongation&intron_variant&non_coding_transcript_variant|HIGH|NOP56|10528|Transcript|NR_145428.2|misc_RNA||1/12|||||||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||AD|||||||||||||||||||||||||||||VUS|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_vus,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000133685||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00190349373||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm;END=2652775;REPID=NOP56_CGCCTG;RU_CAT=CGCCTG;SVTYPE=STR;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIC:VIG:VIPC_S:VIPP_S	1/1:48:48:CGCCTG:4.6-5.5:1:4:GCCT_GCCTGCCT(1),GGCCTGCGCCGGGCCTGAGACAGAGCCTG(1),CGCCTG(46):48:AR,AD,AR_C:chr20_2652734_G_:100302138,10528,26792,26793,677831,692201,692213:U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2
chr21	43776444	.	C	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|upstream_gene_variant|MODIFIER|CSTB|1476|Transcript|NM_000100.4|protein_coding|||||||||||1|137|-1||1|EntrezGene||||||||||||||||||||||||||||||||||||AR|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000142954||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm,tandem_duplication|TF_binding_site_variant|MODIFIER|||MotifFeature|ENSM00522985565||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm;Disease=EPM1;DisplayRU=CCCCGCCCCGCG;END=43776479;HGNCId=2482;InheritanceMode=AR;REPID=CSTB;RU_CAT=CGCGGGGCGGGG;RankScore=1:10;STR_NORMAL_MAX=3;STR_PATHOLOGIC_MIN=30;STR_STATUS=normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2019-11-07;SourceId=NBK535148;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIG:VIPC_S:VIPP_S	1/1:43:43:CGCGGGGCGGGG:2.3-2.6:1:3:GGGCG_GGGCGG_GGGCGGG(1),GCGCAGGGGCGGG_GCGCGGG(1),GCGCGGGGGGCGGGG(1),CGCGGGGCGGGG(36),GCGCGGG_GCGGG(1),GGGACGCGC(1),GCGGGGAC(1),GGGCGGGGAGCC_GGGGCGC(1):43:AR,AD:1476:U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2
chr22	45795355	.	A	<CNV:TR1>,<CNV:TR2>	.	PASS	CSQ=tandem_duplication|feature_elongation&intron_variant|HIGH|ATXN10|25814|Transcript|NM_001167621.2|protein_coding||8/10|||||||||1||1|||EntrezGene|||||||||||||||||||||||||||||||||||1|AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|ATXN10|25814|Transcript|NM_013236.4|protein_coding||9/11|||||||||1||1||1|EntrezGene|||||||||||||||||||||||||||||||||||1|AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|ATXN10|25814|Transcript|NM_001167621.2|protein_coding||8/10|||||||||2||1|||EntrezGene|||||||||||||||||||||||||||||||||||1|AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&intron_variant|HIGH|ATXN10|25814|Transcript|NM_013236.4|protein_coding||9/11|||||||||2||1||1|EntrezGene|||||||||||||||||||||||||||||||||||1|AD|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb;Disease=SCA10;DisplayRU=ATTCT;END=45795424;HGNCId=10549;InheritanceMode=AD;REPID=ATXN10;RU_CAT=ATTCT;RankScore=1:10;STR_NORMAL_MAX=32;STR_PATHOLOGIC_MIN=800;STR_STATUS=normal,normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2019-11-07;SourceId=NBK535148;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIAB:VIG:VIPC_S:VIPP_S	1/2:18,25:43:ATTCT:15.9-16.1,11.2-11.9:1:16,12:ATTCT(42),ATTCTATTCTATTTTATCTTCATTTC(1):18,25:AR,AD:0.418605:25814:U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2
chrX	67545317	.	G	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|AR|367|Transcript|NM_000044.6|protein_coding|1/8||||1298-1365/10667|172-239/2763|58-80/920||||1||1||1|EntrezGene||||||||||||||||||||||||||||||||||||XL|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|AR|367|Transcript|NM_001011645.3|protein_coding|1/9||||696-763/10252||||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||XL|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|AR|367|Transcript|NM_001348061.1|protein_coding|1/4||||696-763/3812|172-239/1935|58-80/644||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||XL|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|AR|367|Transcript|NM_001348063.1|protein_coding|1/4||||696-763/2612|172-239/1947|58-80/648||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||XL|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&coding_sequence_variant|HIGH|AR|367|Transcript|NM_001348064.1|protein_coding|1/3||||696-763/3729|172-239/1719|58-80/572||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||XL|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000246918||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm;Disease=SBMA;DisplayRU=CAG;END=67545385;HGNCId=644;InheritanceMode=XR;REPID=AR;RU_CAT=GCA;RankScore=1:10;STR_NORMAL_MAX=34;STR_PATHOLOGIC_MIN=38;STR_STATUS=normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2019-11-07;SourceId=NBK535148;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIG:VIPC_S:VIPP_S	1:18:18:GCA:26.2-27.4:1:27:GCA(18):18:XLD,XLR:367:U2,U2,U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2
chrX	147912051	.	C	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|FMR1|2332|Transcript|NM_001185075.2|protein_coding|1/16||||134-192/4170||||||1||1|||EntrezGene|||||||||||||||||||||||||||||||||||1|XL|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|FMR1|2332|Transcript|NM_001185076.2|protein_coding|1/16||||134-192/4378||||||1||1|||EntrezGene|||||||||||||||||||||||||||||||||||1|XL|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|FMR1|2332|Transcript|NM_001185081.2|protein_coding|1/15||||134-192/4107||||||1||1|||EntrezGene|||||||||||||||||||||||||||||||||||1|XL|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|FMR1|2332|Transcript|NM_001185082.2|protein_coding|1/16||||134-192/4303||||||1||1|||EntrezGene|||||||||||||||||||||||||||||||||||1|XL|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|FMR1|2332|Transcript|NM_002024.6|protein_coding|1/17||||134-192/4441||||||1||1||1|EntrezGene|||||||||||||||||||||||||||||||||||1|XL|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|FMR1-AS1|100126270|Transcript|NR_024499.3|lncRNA|||||||||||1|235|-1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|FMR1-AS1|100126270|Transcript|NR_024501.3|lncRNA|||||||||||1|235|-1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|FMR1-AS1|100126270|Transcript|NR_024502.3|lncRNA|||||||||||1|235|-1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|upstream_gene_variant|MODIFIER|FMR1-AS1|100126270|Transcript|NR_024503.3|lncRNA|||||||||||1|235|-1|||EntrezGene|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|FMR1|2332|Transcript|NR_033699.2|misc_RNA|1/16||||134-192/4245||||||1||1|||EntrezGene|||||||||||||||||||||||||||||||||||1|XL|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&non_coding_transcript_exon_variant|HIGH|FMR1|2332|Transcript|NR_033700.2|misc_RNA|1/15||||134-192/4182||||||1||1|||EntrezGene|||||||||||||||||||||||||||||||||||1|XL|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249258||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm;Disease=FragileX;DisplayRU=CGG;END=147912110;HGNCId=3775;InheritanceMode=XR;REPID=FMR1;RU_CAT=CGG;RankScore=1:10;STR_NORMAL_MAX=55;STR_PATHOLOGIC_MIN=200;STR_STATUS=normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2019-11-21;SourceId=NBK1384;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIG:VIPC_S:VIPP_S	1:30:30:CGG:30.5-31.4:1:31:CGG(30):30:XLD,XLR:2332:U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vid&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2
chrX	148500632	.	G	<CNV:TR1>	.	PASS	CSQ=tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|AFF2|2334|Transcript|NM_001169122.2|protein_coding|1/20||||17-75/13643||||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||XL|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|AFF2|2334|Transcript|NM_001169123.2|protein_coding|1/21||||17-75/13718||||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||XL|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|AFF2|2334|Transcript|NM_001169124.2|protein_coding|1/20||||17-75/13643||||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||XL|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|AFF2|2334|Transcript|NM_001169125.2|protein_coding|1/20||||17-75/13631||||||1||1|||EntrezGene||||||||||||||||||||||||||||||||||||XL|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|feature_elongation&5_prime_UTR_variant|HIGH|AFF2|2334|Transcript|NM_002025.4|protein_coding|1/21||||17-75/13748||||||1||1||1|EntrezGene||||||||||||||||||||||||||||||||||||XL|||||||||||||||||||||||||||||LB|filter&vkgl&clinVar&chrom&gene&is_mtdna&gnomAD&gnomAD_AF&sv&str&str_status&exit_lb,tandem_duplication|regulatory_region_variant|MODIFIER|||RegulatoryFeature|ENSR00000249272||||||||||||1||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||LQ|filter&vkgl&clinVar&chrom&gene&exit_rm;Disease=Fraxe;DisplayRU=CCG;END=148500691;HGNCId=3776;InheritanceMode=XR;REPID=AFF2;RU_CAT=GCC;RankScore=1:10;STR_NORMAL_MAX=39;STR_PATHOLOGIC_MIN=200;STR_STATUS=normal;SVTYPE=STR;Source=GeneReviews;SourceDisplay=GeneReviews_Internet_2019-11-07;SourceId=NBK535148;VIPC_S=U2	GT:AD:LC:RU_CALL:RU_CI:RU_MATCH:RU_NR:RU_SEEN:RU_SPAN:VI:VIG:VIPC_S:VIPP_S	1:26:26:GCC:18.4-19.1:1:19:GCC(26):26:XLD,XLR:2334:U2,U2,U2,U2,U2,U2:gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vim&exit_u2,gt&gq&only_IP&vig&vid&exit_u2