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vep v78 => v81
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bw2 committed Apr 10, 2016
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0. Download and install VEP. It's used by seqr to annotate variants. Also, we install tabix as we need it to optimize the VEP cache.
`brew install tabix`
`cd ${SEQR_INSTALL_DIR}`
`wget https://github.com/Ensembl/ensembl-tools/archive/release/78.zip`
`unzip 78.zip`
`mv ensembl-tools-release-78/scripts/variant_effect_predictor .`
`rm -rf 78.zip ensembl-tools-release-78`
`wget https://github.com/Ensembl/ensembl-tools/archive/release/81.zip`
`unzip 81.zip`
`mv ensembl-tools-release-81/scripts/variant_effect_predictor .`
`rm -rf 81.zip ensembl-tools-release-81`
`cd variant_effect_predictor`
`perl INSTALL.pl --AUTO acf --CACHEDIR ../vep_cache_dir --SPECIES homo_sapiens --ASSEMBLY GRCh37 --CONVERT`

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0. Before a VCF can be loaded into seqr, it must be annotated with VEP to add a specific set of annotations, including those provided by the [dbNSFP](http://www.ensembl.info/ecode/loftee/) and [LoFTEE](http://www.ensembl.info/ecode/loftee/) plugins. Once these plugins have been installed, please use the following command to annotate your VCF file (here called my_data.vcf.gz):

```perl ./vep/ensembl-tools-release-78/scripts/variant_effect_predictor/variant_effect_predictor.pl --everything --vcf --allele_number --no_stats --cache --offline --dir ./vep_cache/ --force_overwrite --cache_version 78 --fasta ./vep_cache/homo_sapiens/78_GRCh37/Homo_sapiens.GRCh37.75.dna.primary_assembly.fa --assembly GRCh37 --tabix --plugin LoF,human_ancestor_fa:./loftee_data/human_ancestor.fa.gz,filter_position:0.05,min_intron_size:15 --plugin dbNSFP,./reference_data/dbNSFP/dbNSFPv2.9.gz,Polyphen2_HVAR_pred,CADD_phred,SIFT_pred,FATHMM_pred,MutationTaster_pred,MetaSVM_pred -i my_data.vcf.gz -o my_data.vep.vcf.gz```
```perl ./vep/ensembl-tools-release-81/scripts/variant_effect_predictor/variant_effect_predictor.pl --everything --vcf --allele_number --no_stats --cache --offline --dir ./vep_cache/ --force_overwrite --cache_version 81 --fasta ./vep_cache/homo_sapiens/81_GRCh37/Homo_sapiens.GRCh37.75.dna.primary_assembly.fa --assembly GRCh37 --tabix --plugin LoF,human_ancestor_fa:./loftee_data/human_ancestor.fa.gz,filter_position:0.05,min_intron_size:15 --plugin dbNSFP,./reference_data/dbNSFP/dbNSFPv2.9.gz,Polyphen2_HVAR_pred,CADD_phred,SIFT_pred,FATHMM_pred,MutationTaster_pred,MetaSVM_pred -i my_data.vcf.gz -o my_data.vep.vcf.gz```

0. Once you have an annotated file, it can be loaded the same way as steps 6 to 8 in the 'Load example data' section.

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