view test-data/output_test2.vcf @ 5:e43f513583ee draft

planemo upload for repository https://github.com/galaxyproject/tools-iuc/tree/master/tools/ensembl_vep commit 81b5c01b8b191d3b3762c4927ba7d9bd7dac1a4f
author iuc
date Mon, 02 Sep 2024 10:15:34 +0000
parents b43df0ce6c87
children
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##fileformat=VCFv4.1
##contig=<ID=21,assembly=GCF_000001405.26,length=46709983>
##contig=<ID=22,assembly=GCF_000001405.26,length=50818468>
##ALT=<ID=CNV,Description="Copy Number Polymorphism">
##INFO=<ID=SVLEN,Number=.,Type=Integer,Description="Difference in length between REF and ALT alleles">
##INFO=<ID=SVTYPE,Number=1,Type=String,Description="Type of structural variant">
##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|DISTANCE|STRAND|FLAGS|SYMBOL_SOURCE|HGNC_ID|SOURCE|custom_annotation.gtf.gz">
##INFO=<ID=custom_annotation.gtf.gz,Number=.,Type=String,Description="custom_annotation.gtf.gz">
#CHROM	POS	ID	REF	ALT	QUAL	FILTER	INFO	FORMAT	HG00096
21	5733	rs142513484	C	T	.	.	CSQ=T|3_prime_UTR_variant|MODIFIER|MRPL39|ENSG00000154719|Transcript|ENST00000307301|protein_coding|3/3||||159|||||||-1||||custom_annotation.gtf.gz|,T|missense_variant|MODERATE|MRPL39|ENSG00000154719|Transcript|ENST00000352957|protein_coding|2/2||||70|70|24|A/T|Gca/Aca|||-1||||custom_annotation.gtf.gz|,T|upstream_gene_variant|MODIFIER|AP000223.42|ENSG00000260583|Transcript|ENST00000567517|antisense|||||||||||2407|-1||||custom_annotation.gtf.gz|	GT	0|0