The content of variation (VEP) file from Ensembl
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5.0 years ago
seta ★ 1.9k

Hi everybody,

I'm talking about the variation (VEP) file (homo_sapiens_vep_96_GRCh37.tar.gz) available to download from ftp Ensembl. However, I would like to see the short sample of the file before downloading, but I couldn't find such a sample file to view its content. Could you please share me if you have any example or short sample file?

Thanks

VEP human Ensembl • 1.2k views
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I would like to see the short sample of the file before downloading

these are binary PERL files.

$ gunzip -c ensembl/vep/cache/homo_sapiens/75/Y/51000001-52000000_reg.gz | file -
/dev/stdin: perl Storable (v0.7) data (network-ordered) (major 2) (minor 8)
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5.0 years ago
Emily 23k

That's the cache file that the VEP uses. It contains all the genes, regulatory features and variants on GRCh37, sorted into folders of chromosomes, which are then made up of zipped files that represent 1Mb of either genes or regulatory features, and zipped indexed files of all the variants on that chromosome. If you need it, then we recommend installing it with your VEP installation rather than downloading it from the FTP site.

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Thank you for the response. So, it isn't a simple text file and should be used along with VEP tool. Sorry, is it possible to annotate about 40 millions variants with web-based VEP or we should do it locally?

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I would recommend doing that locally.

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Thanks Emily. As I found, there is another cache file called homo_sapiens_merged_vep_96_GRCh37.tar.gz, which contain Ensembl and RefSeq cache; but, I didn't found about "homo_sapiens_vep_96_GRCh37.tar.gz". Could you please let me know what is the difference of this file with the merged file?

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The Ensembl file only contains the Ensembl/GENCODE genes.

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