602panel_test/s5_noUMI_Germline_gatk_unpair_20230522.sh

#!/bin/sh
#PBS -N Germline
#PBS -j oe
#PBS -l ncpus=12
#PBS -l nodes=1
#PBS -l mem=20G

#inputpath=$1
#sample=$2
source  /home/liuxiangqiong/miniconda3/bin/activate base
gatk4=/cgdata/CGTools/soft/tools/gatk4/gatk-4.0.8.1/gatk
b37=/cgdata/Database/GATK/b37/human_g1k_v37_decoy.fasta
target=/cgdata/liuxiangqiong/work62pancancer/Client/v0/script/refdata/NanOnco_Plus_Panel_v2.0_Covered_b37_cg.parY2X.sort_NOhap.bed
annovar_dir=/cgdata/soft/src/annovar.archive/annovar_v20200608
annovar_db=/cgdata/soft/src/annovar.archive/annovar_v20200608/DB

outdir=${inputpath}/4Germline_unpair
$gatk4 HaplotypeCaller -R $b37 -I ${bam_dir}/${sample}_clean.bam -ip 50 -L ${target}  -O ${outdir}/${sample}.vcf.gz
#perl $annovar_dir/table_annovar.pl  ${outdir}/${sample}.vcf.gz $annovar_db \
    -buildver hg19 -out ${outdir}/${sample} -remove \
    -protocol refGene,genomicSuperDups,phastConsElements46way,omim,avsnp150,clinvar,icgc28,cosmic94,gnomad_exome,1000g2015aug_all,hgmd-pro,intervar_20180118,dbscsnv11,dbnsfp41a,regsnpintron \
    -operation g,r,r,r,f,f,f,f,f,f,f,f,f,f,f  \
    -nastring . -vcfinput -polish
#perl /cgdata/liuxiangqiong/work62pancancer/Client/v0/script/germ_filter.pl -i ${outdir}/${sample}.hg19_multianno.txt -s /cgdata/liuxiangqiong/work62pancancer/Client/v0/script/refdata/Select_RefSeq_HGNC_MANE.txt ${outdir}/${sample}.germ.xls

##去掉vcf的#开头的行
less ${outdir}/${sample}.vcf.gz | grep -vE "^#" > ${outdir}/${sample}.nohead.vcf
#位点合并
python /cgdata/liuxiangqiong/work62pancancer/Client/v0/script/complex_variant_germline_20220824.py  -i ${outdir}/${sample}.nohead.vcf -b ${bam_dir}/${sample}_clean.bam -f ${b37} -mode 2 -n 10 -p 0.5 -o ${outdir}/${sample}.nohead.combind.vcf

###将表头加回去
gunzip -dc ${outdir}/${sample}.vcf.gz|grep "^#">${outdir}/${sample}.head.combind.vcf
less ${outdir}/${sample}.nohead.combind.vcf >>${outdir}/${sample}.head.combind.vcf
conda deactivate
#####用vep注释
source  /home/liuxiangqiong/miniconda3/bin/activate  ensemble-vep
PERL5LIB=/home/liuxiangqiong/miniconda3/envs/ensemble-vep/share/ensembl-vep-105.0-1/Bio/EnsEMBL/Variation/Utils/DB/HTS/Faidx
export PERL5LIB=$PERL5LIB
inputdir=${outdir}/${sample}.head.combind.vcf
outdir1=${outdir}/${sample}.head.combind.vepanno.vcf
vep --cache --fork 16 \
-i ${inputdir} \
-o ${outdir1} \
--assembly GRCh37 \
--cache_version 104 \
--dir_cache /home/liuxiangqiong/miniconda3/share/ensembl-vep-88.9-0/hg19 \
--refseq \
--canonical \
--offline \
--hgvs \
--fasta /cgdata/Database/GATK/b37/human_g1k_v37_decoy.fasta \
--hgvsg \
--max_af \
--check_existing \
--numbers \
--symbol \
--canonical \
--offline \
-vcf \
--use_given_ref \
--af_gnomad \
--check_existing

####注释
perl $annovar_dir/table_annovar.pl ${outdir}/${sample}.head.combind.vepanno.vcf $annovar_db \
    -buildver hg19 -out ${outdir}/${sample} -remove \
    -protocol refGene,genomicSuperDups,phastConsElements46way,omim,avsnp150,clinvar,icgc28,cosmic94,gnomad_exome,1000g2015aug_all,hgmd-pro,intervar_20180118,dbscsnv11,dbnsfp41a,regsnpintron,exac03,esp6500siv2_all,WBBC_v211129,inhouse_IDTWES_v2 \
    -operation g,r,r,r,f,f,f,f,f,f,f,f,f,f,f,f,f,f,f  \
    -nastring . -vcfinput -polish
#信息提取校正
perl /cgdata/liuxiangqiong/work62pancancer/Client/v0/script/germ_filter.pl -i ${outdir}/${sample}.hg19_multianno.txt -s /cgdata/liuxiangqiong/work62pancancer/Client/v0/script/refdata/Select_RefSeq_HGNC_MANE.txt ${outdir}/${sample}.germ.xls
conda deactivate
source  /home/liuxiangqiong/miniconda3/bin/activate base
#结果输出并过滤
#python3 /cgdata/liuxiangqiong/work62pancancer/Client/v0/script/20220705/datafile_germline_v0_20220926_finish.py -i ${inputpath} -s ${sample}
#python3 /cgdata/liuxiangqiong/work62pancancer/Client/v0/script/20220705/datafile_germline_v0_20230221_finish.py -i ${inputpath} -s ${sample}
#python3 /cgdata/liuxiangqiong/work62pancancer/Client/v0/script/20220705/datafile_germline_v0_20230301_finish.py -i ${inputpath} -s ${sample}
#python3 /cgdata/liuxiangqiong/work62pancancer/Client/v0/script/20220705/datafile_germline_v0_20230303_finish.py -i ${inputpath} -s ${sample}
#python3 /cgdata/liuxiangqiong/work62pancancer/Client/v0/script/20220705/datafile_germline_v0_20230304_finish.py -i ${inputpath} -s ${sample}
#python3 /cgdata/liuxiangqiong/work62pancancer/Client/v0/script/20220705/datafile_germline_v0_20230308_finish.py -i ${inputpath} -s ${sample}
#python3 /cgdata/liuxiangqiong/work62pancancer/Client/v0/script/20220705/datafile_germline_v0_20230403_finish.py -i ${inputpath} -s ${sample}
python3 /cgdata/liuxiangqiong/work62pancancer/Client/v0/script/20220705/datafile_germline_v0_20230522_finish.py -i ${inputpath} -s ${sample}