slurm-2557982.out 32 KB

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  1. WARNING: While bind mounting '/mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12:/mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12': destination is already in the mount point list
  2. [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/part12 --region chr15:1-68861667 --sample_name CHAHA_diag --include_all_ctgs --print_germline_calls --enable_indel_calling --enable_clair3_germline_output --use_longphase_for_intermediate_haplotagging True
  3. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/logs
  4. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp
  5. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/split_beds
  6. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/candidates
  7. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/pileup_tensor_can
  8. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/fa_tensor_can
  9. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/vcf_output
  10. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/tmp_vcf_output
  11. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/logs/clair3_log
  12. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/phased_output
  13. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/vcf
  14. [INFO] --include_all_ctgs enabled
  15. [INFO] Call variants in contigs: chr15
  16. [INFO] Number of chunks for each contig: 20
  17. [INFO] CALLER VERSION: 0.4.4
  18. [INFO] NORMAL BAM FILE PATH: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/norm/CHAHA_norm_hs1.bam
  19. [INFO] TUMOR BAM FILE PATH: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam
  20. [INFO] REFERENCE FILE PATH: /home/t_steimle/ref/hs1/chm13v2.0.fa
  21. [INFO] PLATFORM: ont_r10_dorado_sup_5khz_ssrs
  22. [INFO] THREADS: 40
  23. [INFO] OUTPUT FOLDER: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12
  24. [INFO] OUTPUT VCF PATH: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/output.vcf.gz
  25. [INFO] PILEUP MODEL PATH: /opt/conda/envs/clairs/bin/clairs_models/ont_r10_dorado_sup_5khz_ssrs/pileup.pkl
  26. [INFO] FULL-ALIGNMENT MODEL PATH: /opt/conda/envs/clairs/bin/clairs_models/ont_r10_dorado_sup_5khz_ssrs/full_alignment.pkl
  27. [INFO] BED FILE PATH: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/region.bed
  28. [INFO] GENOTYPING MODE VCF FILE PATH: None
  29. [INFO] HYBRID MODE VCF FILE PATH: None
  30. [INFO] REGION FOR CALLING: chr15:1-68861667
  31. [INFO] CONTIGS FOR CALLING: None
  32. [INFO] CONDA BINARY PREFIX: /opt/conda/envs/clairs
  33. [INFO] SAMTOOLS BINARY PATH: samtools
  34. [INFO] PYTHON BINARY PATH: python3
  35. [INFO] PYPY BINARY PATH: pypy3
  36. [INFO] PARALLEL BINARY PATH: parallel
  37. [INFO] LONGPHASE BINARY PATH: /opt/conda/envs/clairs/bin/longphase
  38. [INFO] CHUNK SIZE: 5000000
  39. [INFO] SNV MINIMUM AF: 0.05
  40. [INFO] SNV MINIMUM QUAL: 8
  41. [INFO] INDEL MINIMUM AF: 0.1
  42. [INFO] INDEL PILEUP MODEL PATH: /opt/conda/envs/clairs/bin/clairs_models/ont_r10_dorado_sup_5khz_ssrs/indel/pileup.pkl
  43. [INFO] INDEL FULL-ALIGNMENT MODEL PATH: /opt/conda/envs/clairs/bin/clairs_models/ont_r10_dorado_sup_5khz_ssrs/indel/full_alignment.pkl
  44. [INFO] INDEL MINIMUM QUAL: 8
  45. [INFO] NORMAL VCF FILE PATH: None
  46. [INFO] DISABLE PHASING: False
  47. [INFO] ENABLE DRY RUN: False
  48. [INFO] ENABLE INDEL CALLING: True
  49. [INFO] ENABLE PRINTING REFERENCE CALLS: False
  50. [INFO] ENABLE PRINTING GERMLINE CALLS: True
  51. [INFO] ENABLE INCLUDING ALL CTGS FOR CALLING: True
  52. [INFO] ENABLE REMOVING INTERMEDIATE FILES: False
  53. [INFO] Call Germline Variants in Normal BAM using Clair3
  54. [INFO] RUN THE FOLLOWING COMMAND:
  55. ( /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/part12/tmp/clair3_output/clair3_normal_output --ctg_name=chr15 --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/part12/logs/clair3_log/1_CLAIR3_NORMAL.log
  56. [INFO] CLAIR3 VERSION: v1.0.8
  57. [INFO] BAM FILE PATH: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/norm/CHAHA_norm_hs1.bam
  58. [INFO] REFERENCE FILE PATH: /home/t_steimle/ref/hs1/chm13v2.0.fa
  59. [INFO] MODEL PATH: /opt/conda/envs/clairs/bin/clairs_models/clair3_models/r1041_e82_400bps_sup_v420
  60. [INFO] OUTPUT FOLDER: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_normal_output
  61. [INFO] PLATFORM: ont
  62. [INFO] THREADS: 40
  63. [INFO] BED FILE PATH: EMPTY
  64. [INFO] VCF FILE PATH: EMPTY
  65. [INFO] CONTIGS: chr15
  66. [INFO] CONDA PREFIX:
  67. [INFO] SAMTOOLS PATH: samtools
  68. [INFO] PYTHON PATH: python3
  69. [INFO] PYPY PATH: pypy3
  70. [INFO] PARALLEL PATH: parallel
  71. [INFO] WHATSHAP PATH: whatshap
  72. [INFO] LONGPHASE PATH: /opt/conda/envs/clairs/bin/longphase
  73. [INFO] CHUNK SIZE: 5000000
  74. [INFO] FULL ALIGN PROPORTION: 0.7
  75. [INFO] FULL ALIGN REFERENCE PROPORTION: 0.1
  76. [INFO] PHASING PROPORTION: 0.7
  77. [INFO] MINIMUM MQ: 5
  78. [INFO] MINIMUM COVERAGE: 4
  79. [INFO] SNP AF THRESHOLD: 0.08
  80. [INFO] INDEL AF THRESHOLD: 0.15
  81. [INFO] BASE ERROR IN GVCF: 0.001
  82. [INFO] GQ BIN SIZE IN GVCF: 5
  83. [INFO] ENABLE FILEUP ONLY CALLING: False
  84. [INFO] ENABLE FAST MODE CALLING: False
  85. [INFO] ENABLE CALLING SNP CANDIDATES ONLY: False
  86. [INFO] ENABLE PRINTING REFERENCE CALLS: False
  87. [INFO] ENABLE OUTPUT GVCF: False
  88. [INFO] ENABLE HAPLOID PRECISE MODE: False
  89. [INFO] ENABLE HAPLOID SENSITIVE MODE: False
  90. [INFO] ENABLE INCLUDE ALL CTGS CALLING: False
  91. [INFO] ENABLE NO PHASING FOR FULL ALIGNMENT: False
  92. [INFO] ENABLE REMOVING INTERMEDIATE FILES: False
  93. [INFO] ENABLE LONGPHASE FOR INTERMEDIATE VCF PHASING: True
  94. [INFO] ENABLE PHASING FINAL VCF OUTPUT USING WHATSHAP: False
  95. [INFO] ENABLE PHASING FINAL VCF OUTPUT USING LONGPHASE: False
  96. [INFO] ENABLE HAPLOTAGGING FINAL BAM: False
  97. [INFO] ENABLE LONG INDEL CALLING: False
  98. [INFO] ENABLE C_IMPLEMENT: True
  99. + /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/part12/tmp/clair3_output/clair3_normal_output --bed_fn=EMPTY --vcf_fn=EMPTY --ctg_name=chr15 --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
  100. [INFO] Check environment variables
  101. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_normal_output/log
  102. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_normal_output/tmp/pileup_output
  103. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_normal_output/tmp/merge_output
  104. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_normal_output/tmp/phase_output
  105. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_normal_output/tmp/gvcf_tmp_output
  106. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_normal_output/tmp/full_alignment_output
  107. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_normal_output/tmp/phase_output/phase_vcf
  108. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_normal_output/tmp/phase_output/phase_bam
  109. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_normal_output/tmp/full_alignment_output/candidate_bed
  110. [INFO] Call variant in contigs: chr15
  111. [INFO] Chunk number for each contig: 20
  112. [INFO] 1/7 Call variants using pileup model
  113. Calling variants ...
  114. Total processed positions in chr15 (chunk 2/20) : 12228
  115. Total time elapsed: 33.12 s
  116. Calling variants ...
  117. Total processed positions in chr15 (chunk 3/20) : 19201
  118. Total time elapsed: 43.93 s
  119. Calling variants ...
  120. Total processed positions in chr15 (chunk 1/20) : 17171
  121. Total time elapsed: 46.23 s
  122. Calling variants ...
  123. Total processed positions in chr15 (chunk 10/20) : 73614
  124. Total time elapsed: 120.45 s
  125. Calling variants ...
  126. Total processed positions in chr15 (chunk 9/20) : 75952
  127. Total time elapsed: 124.55 s
  128. Calling variants ...
  129. Total processed positions in chr15 (chunk 11/20) : 81432
  130. Total time elapsed: 125.32 s
  131. Calling variants ...
  132. Total processed positions in chr15 (chunk 7/20) : 78004
  133. Total time elapsed: 128.51 s
  134. Calling variants ...
  135. Total processed positions in chr15 (chunk 6/20) : 80932
  136. Total time elapsed: 128.80 s
  137. Calling variants ...
  138. Total processed positions in chr15 (chunk 15/20) : 82164
  139. Total time elapsed: 129.84 s
  140. Calling variants ...
  141. Total processed positions in chr15 (chunk 14/20) : 81844
  142. Total time elapsed: 133.74 s
  143. Calling variants ...
  144. Total processed positions in chr15 (chunk 16/20) : 85312
  145. Total time elapsed: 133.79 s
  146. Calling variants ...
  147. Total processed positions in chr15 (chunk 13/20) : 86377
  148. Total time elapsed: 135.44 s
  149. Calling variants ...
  150. Total processed positions in chr15 (chunk 8/20) : 83225
  151. Total time elapsed: 138.95 s
  152. Calling variants ...
  153. Total processed positions in chr15 (chunk 18/20) : 84823
  154. Total time elapsed: 140.47 s
  155. Calling variants ...
  156. Total processed positions in chr15 (chunk 17/20) : 87476
  157. Total time elapsed: 141.71 s
  158. Calling variants ...
  159. Total processed positions in chr15 (chunk 20/20) : 89114
  160. Total time elapsed: 141.91 s
  161. Calling variants ...
  162. Total processed positions in chr15 (chunk 4/20) : 76273
  163. Total time elapsed: 145.65 s
  164. Calling variants ...
  165. Total processed positions in chr15 (chunk 5/20) : 87326
  166. Total time elapsed: 146.23 s
  167. Calling variants ...
  168. Total processed positions in chr15 (chunk 19/20) : 87661
  169. Total time elapsed: 149.05 s
  170. Calling variants ...
  171. Total processed positions in chr15 (chunk 12/20) : 91236
  172. Total time elapsed: 153.70 s
  173. real 2m40.464s
  174. user 38m47.303s
  175. sys 1m49.544s
  176. [INFO] 2/7 Select heterozygous SNP variants for Whatshap phasing and haplotagging
  177. [INFO] Select heterozygous pileup variants exceeding phasing quality cutoff 15
  178. [INFO] Total heterozygous SNP positions selected: chr15: 72128
  179. real 0m3.584s
  180. user 0m3.415s
  181. sys 0m0.145s
  182. [INFO] 3/7 Phase VCF file using LongPhase
  183. LongPhase Ver 1.7
  184. --- File Parameter ---
  185. SNP File : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_normal_output/tmp/phase_output/phase_vcf/chr15.vcf
  186. SV File :
  187. MOD File :
  188. REF File : /home/t_steimle/ref/hs1/chm13v2.0.fa
  189. Output Prefix : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_normal_output/tmp/phase_output/phase_vcf/phased_chr15
  190. Generate Dot : False
  191. BAM File : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/norm/CHAHA_norm_hs1.bam
  192. --- Phasing Parameter ---
  193. Seq Platform : ONT
  194. Phase Indel : False
  195. Distance Threshold : 300000
  196. Connect Adjacent : 20
  197. Edge Threshold : 0.7
  198. Mapping Quality : 1
  199. Variant Confidence : 0.75
  200. ReadTag Confidence : 0.65
  201. parsing VCF ... 0s
  202. parsing SV VCF ... 0s
  203. parsing Meth VCF ... 0s
  204. reading reference ... 1s
  205. (chr15,7s)
  206. parsing total: 7s
  207. merge results ... 0s
  208. writeResult SNP ... 1s
  209. total process: 9s
  210. real 0m9.144s
  211. user 0m17.197s
  212. sys 0m1.117s
  213. [INFO] 5/7 Select candidates for full-alignment calling
  214. [INFO] Set variants quality cutoff 19.0
  215. [INFO] Set reference calls quality cutoff 13.0
  216. [INFO] Low quality reference calls to be processed in chr15: 127976
  217. [INFO] Low quality variants to be processed in chr15: 126873
  218. real 0m3.846s
  219. user 0m3.532s
  220. sys 0m0.253s
  221. [INFO] 6/7 Call low-quality variants using full-alignment model
  222. Calling variants ...
  223. Total processed positions in chr15 (chunk 26/26) : 4849
  224. Total time elapsed: 54.76 s
  225. Calling variants ...
  226. Total processed positions in chr15 (chunk 1/26) : 10000
  227. Total time elapsed: 92.29 s
  228. Calling variants ...
  229. Total processed positions in chr15 (chunk 13/26) : 10000
  230. Total time elapsed: 92.40 s
  231. Calling variants ...
  232. Total processed positions in chr15 (chunk 18/26) : 10000
  233. Total time elapsed: 94.30 s
  234. Calling variants ...
  235. Total processed positions in chr15 (chunk 4/26) : 10000
  236. Total time elapsed: 94.58 s
  237. Calling variants ...
  238. Total processed positions in chr15 (chunk 20/26) : 10000
  239. Total time elapsed: 94.96 s
  240. Calling variants ...
  241. Total processed positions in chr15 (chunk 21/26) : 10000
  242. Total time elapsed: 95.44 s
  243. Calling variants ...
  244. Total processed positions in chr15 (chunk 23/26) : 10000
  245. Total time elapsed: 96.10 s
  246. Calling variants ...
  247. Total processed positions in chr15 (chunk 16/26) : 10000
  248. Total time elapsed: 96.44 s
  249. Calling variants ...
  250. Total processed positions in chr15 (chunk 24/26) : 10000
  251. Total time elapsed: 96.70 s
  252. Calling variants ...
  253. Total processed positions in chr15 (chunk 11/26) : 10000
  254. Total time elapsed: 96.71 s
  255. Calling variants ...
  256. Total processed positions in chr15 (chunk 8/26) : 10000
  257. Total time elapsed: 97.06 s
  258. Calling variants ...
  259. Total processed positions in chr15 (chunk 9/26) : 10000
  260. Total time elapsed: 96.80 s
  261. Calling variants ...
  262. Total processed positions in chr15 (chunk 15/26) : 10000
  263. Total time elapsed: 97.04 s
  264. Calling variants ...
  265. Total processed positions in chr15 (chunk 19/26) : 10000
  266. Total time elapsed: 98.37 s
  267. Calling variants ...
  268. Total processed positions in chr15 (chunk 12/26) : 10000
  269. Total time elapsed: 98.70 s
  270. Calling variants ...
  271. Total processed positions in chr15 (chunk 10/26) : 10000
  272. Total time elapsed: 99.01 s
  273. Calling variants ...
  274. Total processed positions in chr15 (chunk 3/26) : 10000
  275. Total time elapsed: 99.39 s
  276. Calling variants ...
  277. Total processed positions in chr15 (chunk 5/26) : 10000
  278. Total time elapsed: 99.54 s
  279. Calling variants ...
  280. Total processed positions in chr15 (chunk 22/26) : 10000
  281. Total time elapsed: 99.54 s
  282. Calling variants ...
  283. Total processed positions in chr15 (chunk 17/26) : 10000
  284. Total time elapsed: 99.98 s
  285. Calling variants ...
  286. Total processed positions in chr15 (chunk 25/26) : 10000
  287. Total time elapsed: 100.05 s
  288. Calling variants ...
  289. Total processed positions in chr15 (chunk 14/26) : 10000
  290. Total time elapsed: 100.80 s
  291. Calling variants ...
  292. Total processed positions in chr15 (chunk 7/26) : 10000
  293. Total time elapsed: 101.65 s
  294. Calling variants ...
  295. Total processed positions in chr15 (chunk 6/26) : 10000
  296. Total time elapsed: 101.48 s
  297. Calling variants ...
  298. Total processed positions in chr15 (chunk 2/26) : 10000
  299. Total time elapsed: 105.61 s
  300. real 1m49.098s
  301. user 40m10.751s
  302. sys 2m32.591s
  303. [INFO] 7/7 Merge pileup VCF and full-alignment VCF
  304. [INFO] Pileup variants processed in chr15: 54401
  305. [INFO] Full-alignment variants processed in chr15: 132191
  306. real 0m4.804s
  307. user 0m5.173s
  308. sys 0m0.250s
  309. [INFO] Finish calling, output file: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_normal_output/merge_output.vcf.gz
  310. real 5m10.002s
  311. user 79m45.187s
  312. sys 4m25.359s
  313. [INFO] Call Germline Variant in Tumor BAM using Clair3
  314. [INFO] RUN THE FOLLOWING COMMAND:
  315. ( /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/part12/tmp/clair3_output/clair3_tumor_output --ctg_name=chr15 --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/part12/logs/clair3_log/2_CLAIR3_TUMOR.log
  316. [INFO] CLAIR3 VERSION: v1.0.8
  317. [INFO] BAM FILE PATH: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam
  318. [INFO] REFERENCE FILE PATH: /home/t_steimle/ref/hs1/chm13v2.0.fa
  319. [INFO] MODEL PATH: /opt/conda/envs/clairs/bin/clairs_models/clair3_models/r1041_e82_400bps_sup_v420
  320. [INFO] OUTPUT FOLDER: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_tumor_output
  321. [INFO] PLATFORM: ont
  322. [INFO] THREADS: 40
  323. [INFO] BED FILE PATH: EMPTY
  324. [INFO] VCF FILE PATH: EMPTY
  325. [INFO] CONTIGS: chr15
  326. [INFO] CONDA PREFIX:
  327. [INFO] SAMTOOLS PATH: samtools
  328. [INFO] PYTHON PATH: python3
  329. [INFO] PYPY PATH: pypy3
  330. [INFO] PARALLEL PATH: parallel
  331. [INFO] WHATSHAP PATH: whatshap
  332. [INFO] LONGPHASE PATH: /opt/conda/envs/clairs/bin/longphase
  333. [INFO] CHUNK SIZE: 5000000
  334. [INFO] FULL ALIGN PROPORTION: 0.7
  335. [INFO] FULL ALIGN REFERENCE PROPORTION: 0.1
  336. [INFO] PHASING PROPORTION: 0.7
  337. [INFO] MINIMUM MQ: 5
  338. [INFO] MINIMUM COVERAGE: 4
  339. [INFO] SNP AF THRESHOLD: 0.08
  340. [INFO] INDEL AF THRESHOLD: 0.15
  341. [INFO] BASE ERROR IN GVCF: 0.001
  342. [INFO] GQ BIN SIZE IN GVCF: 5
  343. [INFO] ENABLE FILEUP ONLY CALLING: False
  344. [INFO] ENABLE FAST MODE CALLING: False
  345. [INFO] ENABLE CALLING SNP CANDIDATES ONLY: False
  346. [INFO] ENABLE PRINTING REFERENCE CALLS: False
  347. [INFO] ENABLE OUTPUT GVCF: False
  348. [INFO] ENABLE HAPLOID PRECISE MODE: False
  349. [INFO] ENABLE HAPLOID SENSITIVE MODE: False
  350. [INFO] ENABLE INCLUDE ALL CTGS CALLING: False
  351. [INFO] ENABLE NO PHASING FOR FULL ALIGNMENT: False
  352. [INFO] ENABLE REMOVING INTERMEDIATE FILES: False
  353. [INFO] ENABLE LONGPHASE FOR INTERMEDIATE VCF PHASING: True
  354. [INFO] ENABLE PHASING FINAL VCF OUTPUT USING WHATSHAP: False
  355. [INFO] ENABLE PHASING FINAL VCF OUTPUT USING LONGPHASE: False
  356. [INFO] ENABLE HAPLOTAGGING FINAL BAM: False
  357. [INFO] ENABLE LONG INDEL CALLING: False
  358. [INFO] ENABLE C_IMPLEMENT: True
  359. + /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/part12/tmp/clair3_output/clair3_tumor_output --bed_fn=EMPTY --vcf_fn=EMPTY --ctg_name=chr15 --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
  360. [INFO] Check environment variables
  361. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_tumor_output/log
  362. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_tumor_output/tmp/pileup_output
  363. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_tumor_output/tmp/merge_output
  364. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_tumor_output/tmp/phase_output
  365. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_tumor_output/tmp/gvcf_tmp_output
  366. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_tumor_output/tmp/full_alignment_output
  367. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_tumor_output/tmp/phase_output/phase_vcf
  368. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_tumor_output/tmp/phase_output/phase_bam
  369. [INFO] Create folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_tumor_output/tmp/full_alignment_output/candidate_bed
  370. [INFO] Call variant in contigs: chr15
  371. [INFO] Chunk number for each contig: 20
  372. [INFO] 1/7 Call variants using pileup model
  373. Calling variants ...
  374. Total processed positions in chr15 (chunk 9/20) : 7491
  375. Total time elapsed: 55.14 s
  376. Calling variants ...
  377. Total processed positions in chr15 (chunk 14/20) : 9361
  378. Total time elapsed: 55.72 s
  379. Calling variants ...
  380. Total processed positions in chr15 (chunk 15/20) : 9383
  381. Total time elapsed: 56.59 s
  382. Calling variants ...
  383. Total processed positions in chr15 (chunk 12/20) : 11544
  384. Total time elapsed: 59.13 s
  385. Calling variants ...
  386. Total processed positions in chr15 (chunk 10/20) : 9656
  387. Total time elapsed: 59.74 s
  388. Calling variants ...
  389. Total processed positions in chr15 (chunk 18/20) : 11760
  390. Total time elapsed: 60.49 s
  391. Calling variants ...
  392. Total processed positions in chr15 (chunk 11/20) : 10978
  393. Total time elapsed: 60.82 s
  394. Calling variants ...
  395. Total processed positions in chr15 (chunk 13/20) : 10162
  396. Total time elapsed: 61.12 s
  397. Calling variants ...
  398. Total processed positions in chr15 (chunk 19/20) : 11914
  399. Total time elapsed: 62.92 s
  400. Calling variants ...
  401. Total processed positions in chr15 (chunk 16/20) : 12177
  402. Total time elapsed: 64.27 s
  403. Calling variants ...
  404. Total processed positions in chr15 (chunk 8/20) : 10118
  405. Total time elapsed: 64.25 s
  406. Calling variants ...
  407. Total processed positions in chr15 (chunk 7/20) : 13907
  408. Total time elapsed: 64.83 s
  409. Calling variants ...
  410. Total processed positions in chr15 (chunk 20/20) : 14539
  411. Total time elapsed: 64.93 s
  412. Calling variants ...
  413. Total processed positions in chr15 (chunk 3/20) : 18253
  414. Total time elapsed: 65.98 s
  415. Calling variants ...
  416. Total processed positions in chr15 (chunk 6/20) : 14360
  417. Total time elapsed: 66.49 s
  418. Calling variants ...
  419. Total processed positions in chr15 (chunk 17/20) : 14148
  420. Total time elapsed: 66.93 s
  421. Calling variants ...
  422. Total processed positions in chr15 (chunk 5/20) : 19401
  423. Total time elapsed: 69.04 s
  424. Calling variants ...
  425. Total processed positions in chr15 (chunk 2/20) : 22300
  426. Total time elapsed: 72.61 s
  427. Calling variants ...
  428. Total processed positions in chr15 (chunk 1/20) : 32347
  429. Total time elapsed: 93.54 s
  430. Calling variants ...
  431. Total processed positions in chr15 (chunk 4/20) : 60396
  432. Total time elapsed: 129.60 s
  433. real 2m13.325s
  434. user 15m52.912s
  435. sys 1m8.409s
  436. [INFO] 2/7 Select heterozygous SNP variants for Whatshap phasing and haplotagging
  437. [INFO] Select heterozygous pileup variants exceeding phasing quality cutoff 19
  438. [INFO] Total heterozygous SNP positions selected: chr15: 76778
  439. real 0m1.391s
  440. user 0m1.235s
  441. sys 0m0.141s
  442. [INFO] 3/7 Phase VCF file using LongPhase
  443. LongPhase Ver 1.7
  444. --- File Parameter ---
  445. SNP File : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_tumor_output/tmp/phase_output/phase_vcf/chr15.vcf
  446. SV File :
  447. MOD File :
  448. REF File : /home/t_steimle/ref/hs1/chm13v2.0.fa
  449. Output Prefix : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_tumor_output/tmp/phase_output/phase_vcf/phased_chr15
  450. Generate Dot : False
  451. BAM File : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam
  452. --- Phasing Parameter ---
  453. Seq Platform : ONT
  454. Phase Indel : False
  455. Distance Threshold : 300000
  456. Connect Adjacent : 20
  457. Edge Threshold : 0.7
  458. Mapping Quality : 1
  459. Variant Confidence : 0.75
  460. ReadTag Confidence : 0.65
  461. parsing VCF ... 0s
  462. parsing SV VCF ... 0s
  463. parsing Meth VCF ... 0s
  464. reading reference ... 1s
  465. (chr15,29s)
  466. parsing total: 29s
  467. merge results ... 0s
  468. writeResult SNP ... 1s
  469. total process: 31s
  470. real 0m30.940s
  471. user 1m14.730s
  472. sys 0m4.743s
  473. [INFO] 5/7 Select candidates for full-alignment calling
  474. [INFO] Set variants quality cutoff 21.0
  475. [INFO] Set reference calls quality cutoff 8.0
  476. [INFO] Low quality reference calls to be processed in chr15: 13158
  477. [INFO] Low quality variants to be processed in chr15: 134520
  478. real 0m1.391s
  479. user 0m1.198s
  480. sys 0m0.164s
  481. [INFO] 6/7 Call low-quality variants using full-alignment model
  482. Calling variants ...
  483. Total processed positions in chr15 (chunk 15/15) : 7678
  484. Total time elapsed: 81.87 s
  485. Calling variants ...
  486. Total processed positions in chr15 (chunk 1/15) : 10000
  487. Total time elapsed: 85.06 s
  488. Calling variants ...
  489. Total processed positions in chr15 (chunk 4/15) : 10000
  490. Total time elapsed: 85.15 s
  491. Calling variants ...
  492. Total processed positions in chr15 (chunk 5/15) : 10000
  493. Total time elapsed: 96.87 s
  494. Calling variants ...
  495. Total processed positions in chr15 (chunk 6/15) : 10000
  496. Total time elapsed: 99.58 s
  497. Calling variants ...
  498. Total processed positions in chr15 (chunk 3/15) : 10000
  499. Total time elapsed: 101.27 s
  500. Calling variants ...
  501. Total processed positions in chr15 (chunk 2/15) : 10000
  502. Total time elapsed: 103.28 s
  503. Calling variants ...
  504. Total processed positions in chr15 (chunk 10/15) : 10000
  505. Total time elapsed: 104.61 s
  506. Calling variants ...
  507. Total processed positions in chr15 (chunk 14/15) : 10000
  508. Total time elapsed: 106.73 s
  509. Calling variants ...
  510. Total processed positions in chr15 (chunk 13/15) : 10000
  511. Total time elapsed: 108.63 s
  512. Calling variants ...
  513. Total processed positions in chr15 (chunk 8/15) : 10000
  514. Total time elapsed: 111.70 s
  515. Calling variants ...
  516. Total processed positions in chr15 (chunk 9/15) : 10000
  517. Total time elapsed: 112.92 s
  518. Calling variants ...
  519. Total processed positions in chr15 (chunk 11/15) : 10000
  520. Total time elapsed: 113.13 s
  521. Calling variants ...
  522. Total processed positions in chr15 (chunk 7/15) : 10000
  523. Total time elapsed: 113.21 s
  524. Calling variants ...
  525. Total processed positions in chr15 (chunk 12/15) : 10000
  526. Total time elapsed: 116.27 s
  527. real 1m59.555s
  528. user 24m15.192s
  529. sys 1m22.459s
  530. [INFO] 7/7 Merge pileup VCF and full-alignment VCF
  531. [INFO] Pileup variants processed in chr15: 58048
  532. [INFO] Full-alignment variants processed in chr15: 125321
  533. real 0m2.269s
  534. user 0m2.312s
  535. sys 0m0.150s
  536. [INFO] Finish calling, output file: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_tumor_output/merge_output.vcf.gz
  537. real 4m56.856s
  538. user 41m34.648s
  539. sys 2m36.843s
  540. [INFO] Select Heterozygous SNP for Phasing
  541. [INFO] RUN THE FOLLOWING COMMAND:
  542. ( parallel --joblog /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/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/part12/tmp/clair3_output/clair3_tumor_output/merge_output.vcf.gz --normal_vcf_fn /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/clair3_normal_output/merge_output.vcf.gz --output_folder /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/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/part12/tmp/CONTIGS ) 2>&1 | tee /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/logs/clair3_log/1_select_hetero_snp_for_phasing.log
  543. [INFO] Total HET SNP calls selected: chr15: 102605, not found:921, not match:89, low_qual_count:0. Total normal:101744 Total tumor:103615, pro: 0.9903
  544. [INFO] Phase the Tumor BAM
  545. [INFO] RUN THE FOLLOWING COMMAND:
  546. ( parallel --joblog /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/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/part12/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/part12/tmp/clair3_output/phased_output/tumor_phased_{1} --ont :::: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/CONTIGS && parallel -j 40 bgzip -f /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/phased_output/tumor_phased_{1}.vcf :::: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/CONTIGS ) 2>&1 | tee /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/logs/clair3_log/4_phase_tumor.log && parallel -j 40 tabix -f -p vcf /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/phased_output/tumor_phased_{1}.vcf.gz :::: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/CONTIGS
  547. LongPhase Ver 1.7
  548. --- File Parameter ---
  549. SNP File : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/vcf/chr15.vcf
  550. SV File :
  551. MOD File :
  552. REF File : /home/t_steimle/ref/hs1/chm13v2.0.fa
  553. Output Prefix : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/phased_output/tumor_phased_chr15
  554. Generate Dot : False
  555. BAM File : /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/CHAHA_diag_hs1.bam
  556. --- Phasing Parameter ---
  557. Seq Platform : ONT
  558. Phase Indel : False
  559. Distance Threshold : 300000
  560. Connect Adjacent : 20
  561. Edge Threshold : 0.7
  562. Mapping Quality : 1
  563. Variant Confidence : 0.75
  564. ReadTag Confidence : 0.65
  565. parsing VCF ... 0s
  566. parsing SV VCF ... 0s
  567. parsing Meth VCF ... 0s
  568. reading reference ... 1s
  569. (chr15,48s)
  570. parsing total: 48s
  571. merge results ... 0s
  572. writeResult SNP ... 1s
  573. total process: 50s
  574. [INFO] Haplotag the Tumor BAM
  575. [INFO] RUN THE FOLLOWING COMMAND:
  576. ( parallel --joblog /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/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/part12/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/part12/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/part12/tmp/CONTIGS ) 2>&1 | tee /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/logs/clair3_log/5_tumor_haplotag.log && parallel -j 40 samtools index -@40 /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/clair3_output/phased_output/tumor_{1}.bam :::: /mnt/beegfs02/scratch/t_steimle/data/wgs/CHAHA/diag/ClairS/part12/tmp/CONTIGS