"SENTIEON_LICENSE": "192.168.0.55:8990", | "SENTIEON_LICENSE": "192.168.0.55:8990", | ||||
"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", | |||||
"database": "oss://pgx-reference-data/annovar_hg38/", | "database": "oss://pgx-reference-data/annovar_hg38/", | ||||
"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", |
"{{ project_name }}.germline_resource_tbi": "{{ germline_resource_tbi }}", | "{{ project_name }}.germline_resource_tbi": "{{ germline_resource_tbi }}", | ||||
"{{ 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 }}.database": "{{ database }}", | "{{ project_name }}.database": "{{ 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 }}", |
String sample | String sample | ||||
File vcf | File vcf | ||||
String annotated_vcf = basename(vcf,".vcf") | String annotated_vcf = basename(vcf,".vcf") | ||||
String hg | |||||
File database | File database | ||||
String docker | String docker | ||||
String cluster_config | String cluster_config | ||||
set -o pipefail | set -o pipefail | ||||
set -e | set -e | ||||
nt=$(nproc) | nt=$(nproc) | ||||
/installations/annovar/table_annovar.pl ${vcf} ${database} -buildver hg38 -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 | |||||
/installations/annovar/table_annovar.pl ${vcf} ${database} -buildver ${hg} -hgvs -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 $nt | |||||
>>> | >>> | ||||
runtime { | runtime { | ||||
output { | output { | ||||
File avinput = "${annotated_vcf}.avinput" | File avinput = "${annotated_vcf}.avinput" | ||||
File multianno_txt = "${annotated_vcf}.hg38_multianno.txt" | |||||
File multianno = "${annotated_vcf}.hg38_multianno.vcf" | |||||
File multianno_txt = "${annotated_vcf}.multianno.txt" | |||||
File multianno = "${annotated_vcf}.multianno.vcf" | |||||
} | } | ||||
} | } |
java -Xmx12g -jar /opt/VarScan.v2.4.3.jar somaticFilter ${varscan_indel_germline_hc} --min-coverage 10 --min-reads2 2 --min-strands2 1 --min-avg-qual 20 --p-value 0.1 --output-file ${sample}.VarScan.TN.INDEL.Germline.filter.vcf | java -Xmx12g -jar /opt/VarScan.v2.4.3.jar somaticFilter ${varscan_indel_germline_hc} --min-coverage 10 --min-reads2 2 --min-strands2 1 --min-avg-qual 20 --p-value 0.1 --output-file ${sample}.VarScan.TN.INDEL.Germline.filter.vcf | ||||
java -Xmx12g -jar /opt/VarScan.v2.4.3.jar somaticFilter ${varscan_indel_loh_hc} --min-coverage 10 --min-reads2 2 --min-strands2 1 --min-avg-qual 20 --p-value 0.1 --output-file ${sample}.VarScan.TN.INDEL.LOH.filter.vcf | java -Xmx12g -jar /opt/VarScan.v2.4.3.jar somaticFilter ${varscan_indel_loh_hc} --min-coverage 10 --min-reads2 2 --min-strands2 1 --min-avg-qual 20 --p-value 0.1 --output-file ${sample}.VarScan.TN.INDEL.LOH.filter.vcf | ||||
# Merge SNP and INDEL | |||||
awk '{if ($1!~/^#/) print}' ${sample}.VarScan.TN.SNP.Somatic.filter.vcf | cat - ${sample}.VarScan.TN.INDEL.Somatic.filter.vcf > ${sample}.VarScan.TN.Somatic.filter.vcf | |||||
awk '{if ($1!~/^#/) print}' ${sample}.VarScan.TN.SNP.Germline.filter.vcf | cat - ${sample}.VarScan.TN.INDEL.Germline.filter.vcf > ${sample}.VarScan.TN.Germline.filter.vcf | |||||
awk '{if ($1!~/^#/) print}' ${sample}.VarScan.TN.SNP.LOH.filter.vcf | cat - ${sample}.VarScan.TN.INDEL.LOH.filter.vcf > ${sample}.VarScan.TN.LOH.filter.vcf | |||||
>>> | >>> | ||||
runtime { | runtime { | ||||
} | } | ||||
output { | output { | ||||
File varscan_snp_somatic_filter = "${sample}.VarScan.TN.SNP.Somatic.filter.vcf" | |||||
File varscan_snp_germline_filter = "${sample}.VarScan.TN.SNP.Germline.filter.vcf" | |||||
File varscan_snp_loh_filter = "${sample}.VarScan.TN.SNP.LOH.filter.vcf" | |||||
File varscan_indel_somatic_filter = "${sample}.VarScan.TN.INDEL.Somatic.filter.vcf" | |||||
File varscan_indel_germline_filter = "${sample}.VarScan.TN.INDEL.Germline.filter.vcf" | |||||
File varscan_indel_loh_filter = "${sample}.VarScan.TN.INDEL.LOH.filter.vcf" | |||||
File varscan_snp_somatic_filter = "${sample}.VarScan.TN.Somatic.filter.vcf" | |||||
File varscan_snp_germline_filter = "${sample}.VarScan.TN.Germline.filter.vcf" | |||||
File varscan_snp_loh_filter = "${sample}.VarScan.TN.LOH.filter.vcf" | |||||
} | } | ||||
} | } |
String dbsnp | String dbsnp | ||||
File germline_resource | File germline_resource | ||||
File germline_resource_tbi | File germline_resource_tbi | ||||
String hg | |||||
File database | File database | ||||
File? regions | File? regions | ||||
input: | input: | ||||
sample=sample_id, | sample=sample_id, | ||||
vcf=TNseq.TNseq_vcf, | vcf=TNseq.TNseq_vcf, | ||||
hg=hg, | |||||
database=database, | database=database, | ||||
docker=annovar_docker, | docker=annovar_docker, | ||||
cluster_config=cluster_config, | cluster_config=cluster_config, | ||||
input: | input: | ||||
sample=sample_id, | sample=sample_id, | ||||
vcf=TNscope.TNscope_vcf, | vcf=TNscope.TNscope_vcf, | ||||
hg=hg, | |||||
database=database, | database=database, | ||||
docker=annovar_docker, | docker=annovar_docker, | ||||
cluster_config=cluster_config, | cluster_config=cluster_config, | ||||
normal_bam_index=normal_BQSR.recaled_bam_index, | normal_bam_index=normal_BQSR.recaled_bam_index, | ||||
ref_dir=ref_dir, | ref_dir=ref_dir, | ||||
fasta=fasta, | fasta=fasta, | ||||
docker=varscan_docker, | |||||
docker=varscan_docker, | |||||
disk_size=disk_size, | disk_size=disk_size, | ||||
cluster_config=cluster_config | cluster_config=cluster_config | ||||
} | } |