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- WARNING: While bind mounting '/mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25:/mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25': destination is already in the mount point list
- [COMMAND] /opt/bin/run_clairs --tumor_bam_fn /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam --normal_bam_fn /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/norm/CHAHA_norm_hs1.bam --ref_fn /home/t_steimle/ref/hs1/chm13v2.0.fa --threads 40 --platform ont_r10_dorado_sup_5khz_ssrs --output_dir /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25 --region chr22:1-51324926 --sample_name CHAHA_diag --include_all_ctgs --print_germline_calls --enable_indel_calling --enable_clair3_germline_output --use_longphase_for_intermediate_haplotagging True
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/logs
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/split_beds
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/candidates
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/pileup_tensor_can
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/fa_tensor_can
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/vcf_output
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/tmp_vcf_output
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/logs/clair3_log
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/phased_output
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/vcf
- [INFO] --include_all_ctgs enabled
- [INFO] Call variants in contigs: chr22
- [INFO] Number of chunks for each contig: 11
- [INFO] CALLER VERSION: 0.4.4
- [INFO] NORMAL BAM FILE PATH: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/norm/CHAHA_norm_hs1.bam
- [INFO] TUMOR BAM FILE PATH: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam
- [INFO] REFERENCE FILE PATH: /home/t_steimle/ref/hs1/chm13v2.0.fa
- [INFO] PLATFORM: ont_r10_dorado_sup_5khz_ssrs
- [INFO] THREADS: 40
- [INFO] OUTPUT FOLDER: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25
- [INFO] OUTPUT VCF PATH: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/output.vcf.gz
- [INFO] PILEUP MODEL PATH: /opt/conda/envs/clairs/bin/clairs_models/ont_r10_dorado_sup_5khz_ssrs/pileup.pkl
- [INFO] FULL-ALIGNMENT MODEL PATH: /opt/conda/envs/clairs/bin/clairs_models/ont_r10_dorado_sup_5khz_ssrs/full_alignment.pkl
- [INFO] BED FILE PATH: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/region.bed
- [INFO] GENOTYPING MODE VCF FILE PATH: None
- [INFO] HYBRID MODE VCF FILE PATH: None
- [INFO] REGION FOR CALLING: chr22:1-51324926
- [INFO] CONTIGS FOR CALLING: None
- [INFO] CONDA BINARY PREFIX: /opt/conda/envs/clairs
- [INFO] SAMTOOLS BINARY PATH: samtools
- [INFO] PYTHON BINARY PATH: python3
- [INFO] PYPY BINARY PATH: pypy3
- [INFO] PARALLEL BINARY PATH: parallel
- [INFO] LONGPHASE BINARY PATH: /opt/conda/envs/clairs/bin/longphase
- [INFO] CHUNK SIZE: 5000000
- [INFO] SNV MINIMUM AF: 0.05
- [INFO] SNV MINIMUM QUAL: 8
- [INFO] INDEL MINIMUM AF: 0.1
- [INFO] INDEL PILEUP MODEL PATH: /opt/conda/envs/clairs/bin/clairs_models/ont_r10_dorado_sup_5khz_ssrs/indel/pileup.pkl
- [INFO] INDEL FULL-ALIGNMENT MODEL PATH: /opt/conda/envs/clairs/bin/clairs_models/ont_r10_dorado_sup_5khz_ssrs/indel/full_alignment.pkl
- [INFO] INDEL MINIMUM QUAL: 8
- [INFO] NORMAL VCF FILE PATH: None
- [INFO] DISABLE PHASING: False
- [INFO] ENABLE DRY RUN: False
- [INFO] ENABLE INDEL CALLING: True
- [INFO] ENABLE PRINTING REFERENCE CALLS: False
- [INFO] ENABLE PRINTING GERMLINE CALLS: True
- [INFO] ENABLE INCLUDING ALL CTGS FOR CALLING: True
- [INFO] ENABLE REMOVING INTERMEDIATE FILES: False
- [INFO] Call Germline Variants in Normal BAM using Clair3
- [INFO] RUN THE FOLLOWING COMMAND:
- ( /opt/conda/envs/clairs/bin/run_clair3.sh --bam_fn /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/norm/CHAHA_norm_hs1.bam --ref_fn /home/t_steimle/ref/hs1/chm13v2.0.fa --model_path /opt/conda/envs/clairs/bin/clairs_models/clair3_models/r1041_e82_400bps_sup_v420 --platform ont --threads 40 --output /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_normal_output --ctg_name=chr22 --samtools=samtools --pypy=pypy3 --python=python3 --min_coverage=4 --snp_min_af=0.08 --indel_min_af=0.15 --longphase_for_phasing ) 2>&1 | tee /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/logs/clair3_log/1_CLAIR3_NORMAL.log
- [INFO] CLAIR3 VERSION: v1.0.8
- [INFO] BAM FILE PATH: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/norm/CHAHA_norm_hs1.bam
- [INFO] REFERENCE FILE PATH: /home/t_steimle/ref/hs1/chm13v2.0.fa
- [INFO] MODEL PATH: /opt/conda/envs/clairs/bin/clairs_models/clair3_models/r1041_e82_400bps_sup_v420
- [INFO] OUTPUT FOLDER: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_normal_output
- [INFO] PLATFORM: ont
- [INFO] THREADS: 40
- [INFO] BED FILE PATH: EMPTY
- [INFO] VCF FILE PATH: EMPTY
- [INFO] CONTIGS: chr22
- [INFO] CONDA PREFIX:
- [INFO] SAMTOOLS PATH: samtools
- [INFO] PYTHON PATH: python3
- [INFO] PYPY PATH: pypy3
- [INFO] PARALLEL PATH: parallel
- [INFO] WHATSHAP PATH: whatshap
- [INFO] LONGPHASE PATH: /opt/conda/envs/clairs/bin/longphase
- [INFO] CHUNK SIZE: 5000000
- [INFO] FULL ALIGN PROPORTION: 0.7
- [INFO] FULL ALIGN REFERENCE PROPORTION: 0.1
- [INFO] PHASING PROPORTION: 0.7
- [INFO] MINIMUM MQ: 5
- [INFO] MINIMUM COVERAGE: 4
- [INFO] SNP AF THRESHOLD: 0.08
- [INFO] INDEL AF THRESHOLD: 0.15
- [INFO] BASE ERROR IN GVCF: 0.001
- [INFO] GQ BIN SIZE IN GVCF: 5
- [INFO] ENABLE FILEUP ONLY CALLING: False
- [INFO] ENABLE FAST MODE CALLING: False
- [INFO] ENABLE CALLING SNP CANDIDATES ONLY: False
- [INFO] ENABLE PRINTING REFERENCE CALLS: False
- [INFO] ENABLE OUTPUT GVCF: False
- [INFO] ENABLE HAPLOID PRECISE MODE: False
- [INFO] ENABLE HAPLOID SENSITIVE MODE: False
- [INFO] ENABLE INCLUDE ALL CTGS CALLING: False
- [INFO] ENABLE NO PHASING FOR FULL ALIGNMENT: False
- [INFO] ENABLE REMOVING INTERMEDIATE FILES: False
- [INFO] ENABLE LONGPHASE FOR INTERMEDIATE VCF PHASING: True
- [INFO] ENABLE PHASING FINAL VCF OUTPUT USING WHATSHAP: False
- [INFO] ENABLE PHASING FINAL VCF OUTPUT USING LONGPHASE: False
- [INFO] ENABLE HAPLOTAGGING FINAL BAM: False
- [INFO] ENABLE LONG INDEL CALLING: False
- [INFO] ENABLE C_IMPLEMENT: True
- + /opt/conda/envs/clairs/bin/scripts/clair3_c_impl.sh --bam_fn /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/norm/CHAHA_norm_hs1.bam --ref_fn /home/t_steimle/ref/hs1/chm13v2.0.fa --threads 40 --model_path /opt/conda/envs/clairs/bin/clairs_models/clair3_models/r1041_e82_400bps_sup_v420 --platform ont --output /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_normal_output --bed_fn=EMPTY --vcf_fn=EMPTY --ctg_name=chr22 --sample_name=SAMPLE --chunk_num=0 --chunk_size=5000000 --samtools=samtools --python=python3 --pypy=pypy3 --parallel=parallel --whatshap=whatshap --qual=2 --var_pct_full=0.7 --ref_pct_full=0.1 --var_pct_phasing=0.7 --snp_min_af=0.08 --indel_min_af=0.15 --min_mq=5 --min_coverage=4 --min_contig_size=0 --pileup_only=False --gvcf=False --base_err=0.001 --gq_bin_size=5 --fast_mode=False --call_snp_only=False --print_ref_calls=False --haploid_precise=False --haploid_sensitive=False --include_all_ctgs=False --no_phasing_for_fa=False --pileup_model_prefix=pileup --fa_model_prefix=full_alignment --remove_intermediate_dir=False --enable_phasing=False --enable_long_indel=False --keep_iupac_bases=False --use_gpu=False --longphase_for_phasing=True --longphase=/opt/conda/envs/clairs/bin/longphase --use_whatshap_for_intermediate_phasing=True --use_longphase_for_intermediate_phasing=True --use_whatshap_for_final_output_phasing=False --use_longphase_for_final_output_phasing=False --use_whatshap_for_final_output_haplotagging=False
- [INFO] Check environment variables
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_normal_output/log
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_normal_output/tmp/pileup_output
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_normal_output/tmp/merge_output
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_normal_output/tmp/phase_output
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_normal_output/tmp/gvcf_tmp_output
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_normal_output/tmp/full_alignment_output
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_normal_output/tmp/phase_output/phase_vcf
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_normal_output/tmp/phase_output/phase_bam
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_normal_output/tmp/full_alignment_output/candidate_bed
- [INFO] Call variant in contigs: chr22
- [INFO] Chunk number for each contig: 11
- [INFO] 1/7 Call variants using pileup model
- Calling variants ...
- Total processed positions in chr22 (chunk 2/11) : 47403
- Total time elapsed: 76.59 s
- Calling variants ...
- Total processed positions in chr22 (chunk 3/11) : 53800
- Total time elapsed: 78.51 s
- Calling variants ...
- Total processed positions in chr22 (chunk 4/11) : 55146
- Total time elapsed: 84.17 s
- Calling variants ...
- Total processed positions in chr22 (chunk 1/11) : 54744
- Total time elapsed: 91.37 s
- Calling variants ...
- Total processed positions in chr22 (chunk 7/11) : 77013
- Total time elapsed: 103.88 s
- Calling variants ...
- Total processed positions in chr22 (chunk 9/11) : 78760
- Total time elapsed: 108.34 s
- Calling variants ...
- Total processed positions in chr22 (chunk 10/11) : 84773
- Total time elapsed: 110.66 s
- Calling variants ...
- Total processed positions in chr22 (chunk 11/11) : 85609
- Total time elapsed: 111.64 s
- Calling variants ...
- Total processed positions in chr22 (chunk 6/11) : 87769
- Total time elapsed: 114.11 s
- Calling variants ...
- Total processed positions in chr22 (chunk 5/11) : 86212
- Total time elapsed: 115.06 s
- Calling variants ...
- Total processed positions in chr22 (chunk 8/11) : 84558
- Total time elapsed: 117.46 s
- real 2m3.931s
- user 18m5.961s
- sys 0m48.172s
- [INFO] 2/7 Select heterozygous SNP variants for Whatshap phasing and haplotagging
- [INFO] Select heterozygous pileup variants exceeding phasing quality cutoff 13
- [INFO] Total heterozygous SNP positions selected: chr22: 46311
- real 0m2.154s
- user 0m2.043s
- sys 0m0.098s
- [INFO] 3/7 Phase VCF file using LongPhase
- LongPhase Ver 1.7
- --- File Parameter ---
- SNP File : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_normal_output/tmp/phase_output/phase_vcf/chr22.vcf
- SV File :
- MOD File :
- REF File : /home/t_steimle/ref/hs1/chm13v2.0.fa
- Output Prefix : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_normal_output/tmp/phase_output/phase_vcf/phased_chr22
- Generate Dot : False
- BAM File : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/norm/CHAHA_norm_hs1.bam
- --- Phasing Parameter ---
- Seq Platform : ONT
- Phase Indel : False
- Distance Threshold : 300000
- Connect Adjacent : 20
- Edge Threshold : 0.7
- Mapping Quality : 1
- Variant Confidence : 0.75
- ReadTag Confidence : 0.65
- parsing VCF ... 0s
- parsing SV VCF ... 0s
- parsing Meth VCF ... 0s
- reading reference ... 1s
- (chr22,5s)
- parsing total: 5s
- merge results ... 0s
- writeResult SNP ... 0s
- total process: 6s
- real 0m6.434s
- user 0m13.166s
- sys 0m0.864s
- [INFO] 5/7 Select candidates for full-alignment calling
- [INFO] Set variants quality cutoff 19.0
- [INFO] Set reference calls quality cutoff 12.0
- [INFO] Low quality reference calls to be processed in chr22: 67750
- [INFO] Low quality variants to be processed in chr22: 82189
- real 0m2.278s
- user 0m2.071s
- sys 0m0.173s
- [INFO] 6/7 Call low-quality variants using full-alignment model
- Calling variants ...
- Total processed positions in chr22 (chunk 12/15) : 10000
- Total time elapsed: 72.79 s
- Calling variants ...
- Total processed positions in chr22 (chunk 4/15) : 10000
- Total time elapsed: 73.40 s
- Calling variants ...
- Total processed positions in chr22 (chunk 13/15) : 10000
- Total time elapsed: 73.92 s
- Calling variants ...
- Total processed positions in chr22 (chunk 5/15) : 10000
- Total time elapsed: 74.41 s
- Calling variants ...
- Total processed positions in chr22 (chunk 8/15) : 10000
- Total time elapsed: 74.48 s
- Calling variants ...
- Total processed positions in chr22 (chunk 9/15) : 10000
- Total time elapsed: 74.94 s
- Calling variants ...
- Total processed positions in chr22 (chunk 10/15) : 10000
- Total time elapsed: 75.68 s
- Calling variants ...
- Total processed positions in chr22 (chunk 11/15) : 10000
- Total time elapsed: 76.15 s
- Calling variants ...
- Total processed positions in chr22 (chunk 14/15) : 10000
- Total time elapsed: 76.72 s
- Calling variants ...
- Total processed positions in chr22 (chunk 1/15) : 10000
- Total time elapsed: 77.61 s
- Calling variants ...
- Total processed positions in chr22 (chunk 2/15) : 10000
- Total time elapsed: 78.09 s
- Calling variants ...
- Total processed positions in chr22 (chunk 6/15) : 10000
- Total time elapsed: 78.83 s
- Calling variants ...
- Total processed positions in chr22 (chunk 3/15) : 10000
- Total time elapsed: 79.62 s
- Calling variants ...
- Total processed positions in chr22 (chunk 15/15) : 9939
- Total time elapsed: 81.12 s
- Calling variants ...
- Total processed positions in chr22 (chunk 7/15) : 10000
- Total time elapsed: 88.00 s
- real 1m31.215s
- user 18m41.810s
- sys 1m11.725s
- [INFO] 7/7 Merge pileup VCF and full-alignment VCF
- [INFO] Pileup variants processed in chr22: 35275
- [INFO] Full-alignment variants processed in chr22: 85432
- real 0m2.993s
- user 0m3.163s
- sys 0m0.172s
- [INFO] Finish calling, output file: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_normal_output/merge_output.vcf.gz
- real 4m0.719s
- user 37m18.840s
- sys 2m2.204s
- [INFO] Call Germline Variant in Tumor BAM using Clair3
- [INFO] RUN THE FOLLOWING COMMAND:
- ( /opt/conda/envs/clairs/bin/run_clair3.sh --bam_fn /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam --ref_fn /home/t_steimle/ref/hs1/chm13v2.0.fa --model_path /opt/conda/envs/clairs/bin/clairs_models/clair3_models/r1041_e82_400bps_sup_v420 --platform ont --threads 40 --output /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_tumor_output --ctg_name=chr22 --samtools=samtools --pypy=pypy3 --python=python3 --min_coverage=4 --snp_min_af=0.08 --indel_min_af=0.15 --longphase_for_phasing ) 2>&1 | tee /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/logs/clair3_log/2_CLAIR3_TUMOR.log
- [INFO] CLAIR3 VERSION: v1.0.8
- [INFO] BAM FILE PATH: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam
- [INFO] REFERENCE FILE PATH: /home/t_steimle/ref/hs1/chm13v2.0.fa
- [INFO] MODEL PATH: /opt/conda/envs/clairs/bin/clairs_models/clair3_models/r1041_e82_400bps_sup_v420
- [INFO] OUTPUT FOLDER: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_tumor_output
- [INFO] PLATFORM: ont
- [INFO] THREADS: 40
- [INFO] BED FILE PATH: EMPTY
- [INFO] VCF FILE PATH: EMPTY
- [INFO] CONTIGS: chr22
- [INFO] CONDA PREFIX:
- [INFO] SAMTOOLS PATH: samtools
- [INFO] PYTHON PATH: python3
- [INFO] PYPY PATH: pypy3
- [INFO] PARALLEL PATH: parallel
- [INFO] WHATSHAP PATH: whatshap
- [INFO] LONGPHASE PATH: /opt/conda/envs/clairs/bin/longphase
- [INFO] CHUNK SIZE: 5000000
- [INFO] FULL ALIGN PROPORTION: 0.7
- [INFO] FULL ALIGN REFERENCE PROPORTION: 0.1
- [INFO] PHASING PROPORTION: 0.7
- [INFO] MINIMUM MQ: 5
- [INFO] MINIMUM COVERAGE: 4
- [INFO] SNP AF THRESHOLD: 0.08
- [INFO] INDEL AF THRESHOLD: 0.15
- [INFO] BASE ERROR IN GVCF: 0.001
- [INFO] GQ BIN SIZE IN GVCF: 5
- [INFO] ENABLE FILEUP ONLY CALLING: False
- [INFO] ENABLE FAST MODE CALLING: False
- [INFO] ENABLE CALLING SNP CANDIDATES ONLY: False
- [INFO] ENABLE PRINTING REFERENCE CALLS: False
- [INFO] ENABLE OUTPUT GVCF: False
- [INFO] ENABLE HAPLOID PRECISE MODE: False
- [INFO] ENABLE HAPLOID SENSITIVE MODE: False
- [INFO] ENABLE INCLUDE ALL CTGS CALLING: False
- [INFO] ENABLE NO PHASING FOR FULL ALIGNMENT: False
- [INFO] ENABLE REMOVING INTERMEDIATE FILES: False
- [INFO] ENABLE LONGPHASE FOR INTERMEDIATE VCF PHASING: True
- [INFO] ENABLE PHASING FINAL VCF OUTPUT USING WHATSHAP: False
- [INFO] ENABLE PHASING FINAL VCF OUTPUT USING LONGPHASE: False
- [INFO] ENABLE HAPLOTAGGING FINAL BAM: False
- [INFO] ENABLE LONG INDEL CALLING: False
- [INFO] ENABLE C_IMPLEMENT: True
- + /opt/conda/envs/clairs/bin/scripts/clair3_c_impl.sh --bam_fn /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam --ref_fn /home/t_steimle/ref/hs1/chm13v2.0.fa --threads 40 --model_path /opt/conda/envs/clairs/bin/clairs_models/clair3_models/r1041_e82_400bps_sup_v420 --platform ont --output /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_tumor_output --bed_fn=EMPTY --vcf_fn=EMPTY --ctg_name=chr22 --sample_name=SAMPLE --chunk_num=0 --chunk_size=5000000 --samtools=samtools --python=python3 --pypy=pypy3 --parallel=parallel --whatshap=whatshap --qual=2 --var_pct_full=0.7 --ref_pct_full=0.1 --var_pct_phasing=0.7 --snp_min_af=0.08 --indel_min_af=0.15 --min_mq=5 --min_coverage=4 --min_contig_size=0 --pileup_only=False --gvcf=False --base_err=0.001 --gq_bin_size=5 --fast_mode=False --call_snp_only=False --print_ref_calls=False --haploid_precise=False --haploid_sensitive=False --include_all_ctgs=False --no_phasing_for_fa=False --pileup_model_prefix=pileup --fa_model_prefix=full_alignment --remove_intermediate_dir=False --enable_phasing=False --enable_long_indel=False --keep_iupac_bases=False --use_gpu=False --longphase_for_phasing=True --longphase=/opt/conda/envs/clairs/bin/longphase --use_whatshap_for_intermediate_phasing=True --use_longphase_for_intermediate_phasing=True --use_whatshap_for_final_output_phasing=False --use_longphase_for_final_output_phasing=False --use_whatshap_for_final_output_haplotagging=False
- [INFO] Check environment variables
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_tumor_output/log
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_tumor_output/tmp/pileup_output
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_tumor_output/tmp/merge_output
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_tumor_output/tmp/phase_output
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_tumor_output/tmp/gvcf_tmp_output
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_tumor_output/tmp/full_alignment_output
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_tumor_output/tmp/phase_output/phase_vcf
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_tumor_output/tmp/phase_output/phase_bam
- [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_tumor_output/tmp/full_alignment_output/candidate_bed
- [INFO] Call variant in contigs: chr22
- [INFO] Chunk number for each contig: 11
- [INFO] 1/7 Call variants using pileup model
- Calling variants ...
- Total processed positions in chr22 (chunk 7/11) : 10394
- Total time elapsed: 45.47 s
- Calling variants ...
- Total processed positions in chr22 (chunk 9/11) : 10976
- Total time elapsed: 45.59 s
- Calling variants ...
- Total processed positions in chr22 (chunk 8/11) : 11033
- Total time elapsed: 45.89 s
- Calling variants ...
- Total processed positions in chr22 (chunk 6/11) : 11739
- Total time elapsed: 47.16 s
- Calling variants ...
- Total processed positions in chr22 (chunk 10/11) : 13612
- Total time elapsed: 49.61 s
- Calling variants ...
- Total processed positions in chr22 (chunk 11/11) : 13812
- Total time elapsed: 50.55 s
- Calling variants ...
- Total processed positions in chr22 (chunk 5/11) : 18299
- Total time elapsed: 54.44 s
- Calling variants ...
- Total processed positions in chr22 (chunk 3/11) : 33075
- Total time elapsed: 71.24 s
- Calling variants ...
- Total processed positions in chr22 (chunk 4/11) : 28574
- Total time elapsed: 73.72 s
- Calling variants ...
- Total processed positions in chr22 (chunk 2/11) : 26998
- Total time elapsed: 76.03 s
- Calling variants ...
- Total processed positions in chr22 (chunk 1/11) : 70814
- Total time elapsed: 137.65 s
- real 2m20.973s
- user 9m31.820s
- sys 0m35.384s
- [INFO] 2/7 Select heterozygous SNP variants for Whatshap phasing and haplotagging
- [INFO] Select heterozygous pileup variants exceeding phasing quality cutoff 15
- [INFO] Total heterozygous SNP positions selected: chr22: 44110
- real 0m1.090s
- user 0m0.991s
- sys 0m0.091s
- [INFO] 3/7 Phase VCF file using LongPhase
- LongPhase Ver 1.7
- --- File Parameter ---
- SNP File : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_tumor_output/tmp/phase_output/phase_vcf/chr22.vcf
- SV File :
- MOD File :
- REF File : /home/t_steimle/ref/hs1/chm13v2.0.fa
- Output Prefix : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_tumor_output/tmp/phase_output/phase_vcf/phased_chr22
- Generate Dot : False
- BAM File : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam
- --- Phasing Parameter ---
- Seq Platform : ONT
- Phase Indel : False
- Distance Threshold : 300000
- Connect Adjacent : 20
- Edge Threshold : 0.7
- Mapping Quality : 1
- Variant Confidence : 0.75
- ReadTag Confidence : 0.65
- parsing VCF ... 0s
- parsing SV VCF ... 0s
- parsing Meth VCF ... 0s
- reading reference ... 1s
- (chr22,18s)
- parsing total: 18s
- merge results ... 0s
- writeResult SNP ... 0s
- total process: 19s
- real 0m19.006s
- user 0m47.392s
- sys 0m2.952s
- [INFO] 5/7 Select candidates for full-alignment calling
- [INFO] Set variants quality cutoff 21.0
- [INFO] Set reference calls quality cutoff 8.0
- [INFO] Low quality reference calls to be processed in chr22: 12609
- [INFO] Low quality variants to be processed in chr22: 85928
- real 0m1.085s
- user 0m0.932s
- sys 0m0.136s
- [INFO] 6/7 Call low-quality variants using full-alignment model
- Calling variants ...
- Total processed positions in chr22 (chunk 2/10) : 10000
- Total time elapsed: 81.37 s
- Calling variants ...
- Total processed positions in chr22 (chunk 1/10) : 10000
- Total time elapsed: 87.73 s
- Calling variants ...
- Total processed positions in chr22 (chunk 10/10) : 8537
- Total time elapsed: 91.82 s
- Calling variants ...
- Total processed positions in chr22 (chunk 4/10) : 10000
- Total time elapsed: 95.70 s
- Calling variants ...
- Total processed positions in chr22 (chunk 3/10) : 10000
- Total time elapsed: 97.11 s
- Calling variants ...
- Total processed positions in chr22 (chunk 5/10) : 10000
- Total time elapsed: 98.39 s
- Calling variants ...
- Total processed positions in chr22 (chunk 9/10) : 10000
- Total time elapsed: 98.82 s
- Calling variants ...
- Total processed positions in chr22 (chunk 8/10) : 10000
- Total time elapsed: 100.34 s
- Calling variants ...
- Total processed positions in chr22 (chunk 7/10) : 10000
- Total time elapsed: 103.07 s
- Calling variants ...
- Total processed positions in chr22 (chunk 6/10) : 10000
- Total time elapsed: 115.45 s
- real 1m58.631s
- user 15m21.575s
- sys 0m51.191s
- [INFO] 7/7 Merge pileup VCF and full-alignment VCF
- [INFO] Pileup variants processed in chr22: 37132
- [INFO] Full-alignment variants processed in chr22: 80741
- real 0m1.719s
- user 0m1.719s
- sys 0m0.142s
- [INFO] Finish calling, output file: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_tumor_output/merge_output.vcf.gz
- real 4m48.800s
- user 25m49.863s
- sys 1m30.517s
- [INFO] Select Heterozygous SNP for Phasing
- [INFO] RUN THE FOLLOWING COMMAND:
- ( parallel --joblog /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/logs/clair3_log/parallel_1_select_hetero_snp_for_phasing.log -j 40 pypy3 /opt/bin/clairs.py select_hetero_snp_for_phasing --tumor_vcf_fn /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_tumor_output/merge_output.vcf.gz --normal_vcf_fn /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/clair3_normal_output/merge_output.vcf.gz --output_folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/vcf --ctg_name {1} --use_heterozygous_snp_in_normal_sample_for_intermediate_phasing True :::: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/CONTIGS ) 2>&1 | tee /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/logs/clair3_log/1_select_hetero_snp_for_phasing.log
- [INFO] Total HET SNP calls selected: chr22: 61121, not found:919, not match:76, low_qual_count:0. Total normal:66656 Total tumor:62116, pro: 0.984
- [INFO] Phase the Tumor BAM
- [INFO] RUN THE FOLLOWING COMMAND:
- ( parallel --joblog /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/logs/clair3_log/parallel_4_phase_tumor.log -j 40 /opt/conda/envs/clairs/bin/longphase phase -s /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/vcf/{1}.vcf -b /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam -r /home/t_steimle/ref/hs1/chm13v2.0.fa -t 40 -o /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/phased_output/tumor_phased_{1} --ont :::: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/CONTIGS && parallel -j 40 bgzip -f /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/phased_output/tumor_phased_{1}.vcf :::: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/CONTIGS ) 2>&1 | tee /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/logs/clair3_log/4_phase_tumor.log && parallel -j 40 tabix -f -p vcf /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/phased_output/tumor_phased_{1}.vcf.gz :::: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/CONTIGS
- LongPhase Ver 1.7
- --- File Parameter ---
- SNP File : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/vcf/chr22.vcf
- SV File :
- MOD File :
- REF File : /home/t_steimle/ref/hs1/chm13v2.0.fa
- Output Prefix : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/phased_output/tumor_phased_chr22
- Generate Dot : False
- BAM File : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam
- --- Phasing Parameter ---
- Seq Platform : ONT
- Phase Indel : False
- Distance Threshold : 300000
- Connect Adjacent : 20
- Edge Threshold : 0.7
- Mapping Quality : 1
- Variant Confidence : 0.75
- ReadTag Confidence : 0.65
- parsing VCF ... 1s
- parsing SV VCF ... 0s
- parsing Meth VCF ... 0s
- reading reference ... 0s
- (chr22,39s)
- parsing total: 40s
- merge results ... 0s
- writeResult SNP ... 0s
- total process: 41s
- [INFO] Haplotag the Tumor BAM
- [INFO] RUN THE FOLLOWING COMMAND:
- ( parallel --joblog /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/logs/clair3_log/parallel_5_haplotag_tumor.log -j 40 /opt/conda/envs/clairs/bin/longphase haplotag -o /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/phased_output/tumor_{1} --reference /home/t_steimle/ref/hs1/chm13v2.0.fa --region {1} -s /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/phased_output/tumor_phased_{1}.vcf.gz -b /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam :::: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/CONTIGS ) 2>&1 | tee /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/logs/clair3_log/5_tumor_haplotag.log && parallel -j 40 samtools index -@40 /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/phased_output/tumor_{1}.bam :::: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/CONTIGS
- phased SNP file: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/phased_output/tumor_phased_chr22.vcf.gz
- phased SV file:
- phased MOD file:
- input bam file: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam
- input ref file: /home/t_steimle/ref/hs1/chm13v2.0.fa
- output bam file: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/clair3_output/phased_output/tumor_chr22.bam
- number of threads: 1
- write log file: false
- log file:
- -------------------------------------------
- tag region: chr22
- filter mapping quality below: 1
- percentage threshold: 0.6
- tag supplementary: false
- -------------------------------------------
- parsing SNP VCF ... 1s
- tag read start ...
- chr: chr22 ... 691s
- tag read 692s
- -------------------------------------------
- total process time: 693s
- total alignment: 1020895
- total supplementary: 24756
- total secondary: 0
- total unmapped: 0
- total tag alignment: 315339
- total untagged: 705556
- [INFO] STEP 1: Extract Variant Candidates from Tumor and Normal BAMs
- [INFO] RUN THE FOLLOWING COMMAND:
- ( parallel --joblog /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/logs/parallel_1_extract_tumor_candidates.log -C " " -j 40 pypy3 /opt/bin/clairs.py extract_pair_candidates --tumor_bam_fn /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam --normal_bam_fn /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/norm/CHAHA_norm_hs1.bam --ref_fn /home/t_steimle/ref/hs1/chm13v2.0.fa --samtools samtools --snv_min_af 0.05 --indel_min_af 0.1 --chunk_id {2} --chunk_num {3} --ctg_name {1} --platform ont --min_coverage 4 --bed_fn /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/split_beds/{1} --candidates_folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/candidates --output_depth True --select_indel_candidates True --hybrid_mode_vcf_fn None --genotyping_mode_vcf_fn None :::: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/CHUNK_LIST ) 2>&1 | tee /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/logs/1_EC.log && pypy3 /opt/bin/clairs.py concat_files --input_dir /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part25/tmp/candidates --input_prefix CANDIDATES_FILE_ --output_fn CANDIDATES_FILES
- [INFO] chr22 chunk 0/11: Total snv candidates found: 14326, total indel candidates found: 1131
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