task VEP { File vcf String sample_id String basename = basename(vcf,".vcf") String tumor_id String normal_id File ref_dir String fasta String vep_path File cache String hg String species Boolean only_pass String vcf2maf_path String docker String cluster_config String disk_size command <<< set -o pipefail set -e nt=$(nproc) if [ only_pass ]; then awk -F'\t' '{if(($1~"^#")||($1!~"^#" && $7=="PASS")){print $0}}' ${vcf} > ${sample_id}.INPUT.vcf else cp ${vcf} ${sample_id}.INPUT.vcf fi # Define ncbi_build if [ hg == "hg19" ]; then ncbi_build="GRCh37" elif [ hg == "hg38" ]; then ncbi_build="GRCh38" fi # Extract the BND variants from VCF awk -F'\t' '{if(($1~"^#")||($8!~".*SVTYPE=BND.*")){print $0}}' ${sample_id}.INPUT.vcf > ${sample_id}.INPUT.vcf2maf.vcf awk -F'\t' '{if(($1~"^#")||($8~".*SVTYPE=BND.*")){print $0}}' ${sample_id}.INPUT.vcf > ${sample_id}.INPUT.VEP.vcf # vcf2maf perl ${vcf2maf_path}/vcf2maf.pl \ --input-vcf ${sample_id}.INPUT.vcf2maf.vcf --output-maf ${basename}.maf \ --tumor-id ${tumor_id} --normal-id ${normal_id} \ --ref-fasta ${ref_dir}/${fasta} \ --vep-path ${vep_path} \ --vep-data ${cache} \ --ncbi-build $ncbi_build \ --species ${species} \ --vep-fork $nt # vep: only annotate the BND perl ${vep_path}/vep \ --input_file ${sample_id}.INPUT.VEP.vcf --output_file ${basename}.BND.VEP.txt \ --fasta ${ref_dir}/${fasta} \ --dir ${cache} \ --assembly $ncbi_build \ --species ${species} \ --fork $nt \ --no_progress --no_stats --buffer_size 5000 --sift b --ccds --uniprot --hgvs --symbol --numbers --domains --gene_phenotype --canonical --protein --biotype --uniprot --tsl --variant_class --shift_hgvs 1 --check_existing --total_length --allele_number --no_escape --xref_refseq --failed 1 --tab --flag_pick_allele --pick_order canonical,tsl,biotype,rank,ccds,length --format vcf --force_overwrite --offline --pubmed --regulatory >>> runtime { docker: docker cluster: cluster_config systemDisk: "cloud_ssd 40" dataDisk: "cloud_ssd " + disk_size + " /cromwell_root/" } output { File input_vcf = "${sample_id}.INPUT.vcf" File maf = "${basename}.${hg}.maf" File bnd_vep = "${basename}.BND.VEP.txt" } }