"dbmills_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/", | "dbmills_dir": "oss://pgx-reference-data/GRCh38.d1.vd1/", | ||||
"db_mills": "Mills_and_1000G_gold_standard.indels.hg38.vcf", | "db_mills": "Mills_and_1000G_gold_standard.indels.hg38.vcf", | ||||
"hg": "hg38", | "hg": "hg38", | ||||
"database": "oss://pgx-reference-data/annovar_hg38/", | |||||
"annovar_database": "oss://pgx-reference-data/annovar/", | |||||
"germline_resource": "oss://pgx-reference-data/gnomAD/af-only-gnomad.v3.1.1.vcf.gz", | "germline_resource": "oss://pgx-reference-data/gnomAD/af-only-gnomad.v3.1.1.vcf.gz", | ||||
"germline_resource_tbi": "oss://pgx-reference-data/gnomAD/af-only-gnomad.v3.1.1.vcf.gz.tbi", | "germline_resource_tbi": "oss://pgx-reference-data/gnomAD/af-only-gnomad.v3.1.1.vcf.gz.tbi", | ||||
"regions": "oss://pgx-reference-data/bed/cbcga/S07604514_Padded.bed", | "regions": "oss://pgx-reference-data/bed/cbcga/S07604514_Padded.bed", |
"{{ project_name }}.regions": "{{ regions }}", | "{{ project_name }}.regions": "{{ regions }}", | ||||
"{{ project_name }}.interval_padding": "{{ interval_padding }}", | "{{ project_name }}.interval_padding": "{{ interval_padding }}", | ||||
"{{ project_name }}.hg": "{{ hg }}", | "{{ project_name }}.hg": "{{ hg }}", | ||||
"{{ project_name }}.database": "{{ database }}", | |||||
"{{ project_name }}.annovar_database": "{{ annovar_database }}", | |||||
"{{ project_name }}.tnseq_pon": "{{ tnseq_pon }}", | "{{ project_name }}.tnseq_pon": "{{ tnseq_pon }}", | ||||
"{{ project_name }}.tnscope_pon": "{{ tnscope_pon }}", | "{{ project_name }}.tnscope_pon": "{{ tnscope_pon }}", | ||||
"{{ project_name }}.disk_size": "{{ disk_size }}", | "{{ project_name }}.disk_size": "{{ disk_size }}", |
task ANNOVAR { | task ANNOVAR { | ||||
File vcf | File vcf | ||||
String annotated_vcf = basename(vcf,".vcf") | |||||
String basename = basename(vcf,".vcf") | |||||
String hg | String hg | ||||
File database | |||||
File annovar_database | |||||
String docker | String docker | ||||
String cluster_config | String cluster_config | ||||
String disk_size | String disk_size | ||||
set -o pipefail | set -o pipefail | ||||
set -e | set -e | ||||
nt=$(nproc) | nt=$(nproc) | ||||
/installations/annovar/table_annovar.pl ${vcf} ${database} -buildver ${hg} -out ${annotated_vcf} -remove -protocol refGene,cytoBand,genomicSuperDups,ljb26_all,dbnsfp35c,intervar_20180118,cosmic70,exac03,gnomad211_exome,clinvar_20200316 -operation g,r,r,f,f,f,f,f,f,f -nastring . -vcfinput -thread $nt | |||||
if [ ${hg} == "hg38" ]; then | |||||
/installations/annovar/table_annovar.pl ${vcf} ${annovar_database} -buildver ${hg} -out ${basename} -remove -protocol refGene,cytoBand,genomicSuperDups,ljb26_all,dbnsfp35c,intervar_20180118,cosmic70,exac03,gnomad211_exome,clinvar_20200316 -operation g,r,r,f,f,f,f,f,f,f -nastring . -vcfinput -thread $nt | |||||
fi | |||||
if [ ${hg} == "hg19" ]; then | |||||
/installations/annovar/table_annovar.pl ${vcf} ${annovar_database} -buildver ${hg} -out ${basename} -remove -protocol refGene,cytoBand,genomicSuperDups,ljb26_all,snp138,cosmic78,intervar_20170202,popfreq_all_20150413,clinvar_20190305 -operation g,r,r,f,f,f,f,f,f -nastring . -vcfinput -thread $nt | |||||
fi | |||||
>>> | >>> | ||||
runtime { | runtime { | ||||
} | } | ||||
output { | output { | ||||
File avinput = "${annotated_vcf}.avinput" | |||||
File multianno_txt = "${annotated_vcf}.${hg}_multianno.txt" | |||||
File multianno = "${annotated_vcf}.${hg}_multianno.vcf" | |||||
File avinput = "${basename}.avinput" | |||||
File multianno_txt = "${basename}.${hg}_multianno.txt" | |||||
File multianno_vcf = "${basename}.${hg}_multianno.vcf" | |||||
} | } | ||||
} | } |
File germline_resource | File germline_resource | ||||
File germline_resource_tbi | File germline_resource_tbi | ||||
String hg | String hg | ||||
File database | |||||
File annovar_database | |||||
File? regions | File? regions | ||||
Int? interval_padding | Int? interval_padding | ||||
input: | input: | ||||
vcf=TNseq.TNseq_vcf, | vcf=TNseq.TNseq_vcf, | ||||
hg=hg, | hg=hg, | ||||
database=database, | |||||
annovar_database=annovar_database, | |||||
docker=annovar_docker, | docker=annovar_docker, | ||||
cluster_config=cluster_config, | cluster_config=cluster_config, | ||||
disk_size=disk_size | disk_size=disk_size | ||||
input: | input: | ||||
vcf=TNscope.TNscope_vcf, | vcf=TNscope.TNscope_vcf, | ||||
hg=hg, | hg=hg, | ||||
database=database, | |||||
annovar_database=annovar_database, | |||||
docker=annovar_docker, | docker=annovar_docker, | ||||
cluster_config=cluster_config, | cluster_config=cluster_config, | ||||
disk_size=disk_size | disk_size=disk_size | ||||
input: | input: | ||||
vcf=somaticFilter.varscan_somatic_filter, | vcf=somaticFilter.varscan_somatic_filter, | ||||
hg=hg, | hg=hg, | ||||
database=database, | |||||
annovar_database=annovar_database, | |||||
docker=annovar_docker, | docker=annovar_docker, | ||||
cluster_config=cluster_config, | cluster_config=cluster_config, | ||||
disk_size=disk_size | disk_size=disk_size |