|
1 | 1 | { |
2 | 2 | "version": "1.3.40", |
3 | 3 | "project_name": "access_legacy_snv_pipeline", |
4 | | - |
5 | | - "tumor_bams": {{ tumor_bams }}, |
6 | | - "normal_bams": {{ normal_bams }}, |
7 | | - "tumor_sample_names": {{ tumor_sample_names }}, |
8 | | - "normal_sample_names": {{ normal_sample_names }}, |
9 | | - "matched_normal_ids": {{ matched_normal_ids }}, |
10 | | - "genotyping_bams": {{ genotyping_bams }}, |
11 | | - "genotyping_bams_ids": {{ genotyping_bams_ids }}, |
12 | | - |
| 4 | + "tumor_bams": {{tumor_bams}}, |
| 5 | + "normal_bams": {{normal_bams}}, |
| 6 | + "tumor_sample_names": {{tumor_sample_names}}, |
| 7 | + "normal_sample_names": {{normal_sample_names}}, |
| 8 | + "matched_normal_ids": {{matched_normal_ids}}, |
| 9 | + "genotyping_bams": {{genotyping_bams}}, |
| 10 | + "genotyping_bams_ids": {{genotyping_bams_ids}}, |
13 | 11 | "mutect_params": { |
14 | | - "dcov": 5000, |
15 | | - "read_filter": ["BadCigar"], |
16 | | - "fraction_contamination": 0.0005, |
17 | | - "minimum_mutation_cell_fraction": 0.0005 |
| 12 | + "dcov": 5000, |
| 13 | + "read_filter": ["BadCigar"], |
| 14 | + "fraction_contamination": 0.0005, |
| 15 | + "minimum_mutation_cell_fraction": 0.0005, |
18 | 16 | }, |
19 | 17 | "vardict_params": { |
20 | | - "allele_freq_thres": 0.0002, |
21 | | - "min_num_variant_reads": 1, |
22 | | - "column_for_region_end": 3, |
23 | | - "column_for_chromosome": 1, |
24 | | - "column_for_gene_name": 4, |
25 | | - "column_for_region_start": 2 |
| 18 | + "allele_freq_thres": 0.0002, |
| 19 | + "min_num_variant_reads": 1, |
| 20 | + "column_for_region_end": 3, |
| 21 | + "column_for_chromosome": 1, |
| 22 | + "column_for_gene_name": 4, |
| 23 | + "column_for_region_start": 2, |
26 | 24 | }, |
27 | 25 | "basicfiltering_mutect_params": { |
28 | | - "total_depth": 20, |
29 | | - "allele_depth": 1, |
30 | | - "variant_fraction": 0.00005, |
31 | | - "tumor_normal_ratio": 1, |
32 | | - "outdir": "." |
| 26 | + "total_depth": 20, |
| 27 | + "allele_depth": 1, |
| 28 | + "variant_fraction": 0.00005, |
| 29 | + "tumor_normal_ratio": 1, |
| 30 | + "outdir": ".", |
33 | 31 | }, |
34 | 32 | "basicfiltering_vardict_params": { |
35 | | - "min_qual": 0, |
36 | | - "total_depth": 20, |
37 | | - "allele_depth": 1, |
38 | | - "tumor_normal_ratio": 1, |
39 | | - "filter_germline": false, |
40 | | - "variant_fraction": 0.00005, |
41 | | - "outdir": "." |
42 | | - }, |
43 | | - "bcftools_params": { |
44 | | - "allow_overlaps": true, |
45 | | - "rm_dups": "none" |
46 | | - }, |
| 33 | + "min_qual": 0, |
| 34 | + "total_depth": 20, |
| 35 | + "allele_depth": 1, |
| 36 | + "tumor_normal_ratio": 1, |
| 37 | + "filter_germline": false, |
| 38 | + "variant_fraction": 0.00005, |
| 39 | + "outdir": ".", |
| 40 | + }, |
| 41 | + "bcftools_params": {"allow_overlaps": true, "rm_dups": "none"}, |
47 | 42 | "vcf2maf_params": { |
48 | | - "vep_forks": 4, |
49 | | - "buffer_size": 5000, |
50 | | - "max_filter_ac": 10, |
51 | | - "min_hom_vaf": 0.7, |
52 | | - "ncbi_build": "GRCh37", |
53 | | - "retain_info": "set,TYPE,FAILURE_REASON,MUTECT,VCF_POS,VCF_REF,VCF_ALT", |
54 | | - "maf_center": "mskcc.org", |
55 | | - "species": "homo_sapiens_merged" |
56 | | - }, |
57 | | - "gbcms_params": { |
58 | | - "maq": 20, |
59 | | - "thread": 10, |
60 | | - "omaf": true, |
61 | | - "fragment_count": 1, |
62 | | - "filter_duplicate": 0 |
63 | | - }, |
| 43 | + "vep_forks": 4, |
| 44 | + "buffer_size": 5000, |
| 45 | + "max_filter_ac": 10, |
| 46 | + "min_hom_vaf": 0.7, |
| 47 | + "ncbi_build": "GRCh37", |
| 48 | + "retain_info": "set,TYPE,FAILURE_REASON,MUTECT,VCF_POS,VCF_REF,VCF_ALT", |
| 49 | + "maf_center": "mskcc.org", |
| 50 | + "species": "homo_sapiens_merged", |
| 51 | + }, |
| 52 | + "gbcms_params": {"maq": 20, "thread": 10, "omaf": true, "fragment_count": 1, "filter_duplicate": 0}, |
64 | 53 | "access_filters_params": { |
65 | | - "tumor_TD_min": 20, |
66 | | - "normal_TD_min": 20, |
67 | | - "tn_ratio_thres": 2, |
68 | | - "tier_one_alt_min": 3, |
69 | | - "tier_two_alt_min": 5, |
70 | | - "tumor_detect_alt_thres": 2, |
71 | | - "curated_detect_alt_thres": 2, |
72 | | - "DS_tumor_detect_alt_thres": 2, |
73 | | - "DS_curated_detect_alt_thres": 2, |
74 | | - "tumor_vaf_germline_thres": 0, |
75 | | - "normal_vaf_germline_thres": 0.3, |
76 | | - "min_n_curated_samples_alt_detected": 2 |
| 54 | + "tumor_TD_min": 20, |
| 55 | + "normal_TD_min": 20, |
| 56 | + "tn_ratio_thres": 2, |
| 57 | + "tier_one_alt_min": 3, |
| 58 | + "tier_two_alt_min": 5, |
| 59 | + "tumor_detect_alt_thres": 2, |
| 60 | + "curated_detect_alt_thres": 2, |
| 61 | + "DS_tumor_detect_alt_thres": 2, |
| 62 | + "DS_curated_detect_alt_thres": 2, |
| 63 | + "tumor_vaf_germline_thres": 0, |
| 64 | + "normal_vaf_germline_thres": 0.3, |
| 65 | + "min_n_curated_samples_alt_detected": 2, |
77 | 66 | }, |
78 | 67 | "dbsnp": { |
79 | 68 | "class": "File", |
80 | | - "location": "iris:///data1/core006/accessH/production/resources/ACCESS-data/dbsnp_137.b37.vcf" |
| 69 | + "location": "iris:///data1/core006/accessH/production/resources/ACCESS-data/dbsnp_137.b37.vcf", |
81 | 70 | }, |
82 | 71 | "cosmic": { |
83 | 72 | "class": "File", |
84 | | - "location": "iris:///data1/core006/accessH/production/resources/ACCESS-data/CosmicCodingMuts_v67_b37_20131024__NDS.vcf" |
| 73 | + "location": "iris:///data1/core006/accessH/production/resources/ACCESS-data/CosmicCodingMuts_v67_b37_20131024__NDS.vcf", |
85 | 74 | }, |
86 | 75 | "ref_fasta": { |
87 | 76 | "class": "File", |
88 | | - "location": "iris:///data1/core006/accessH/production/resources/ACCESS-data/v20221027_viral_updates/hg19_virus.fa" |
| 77 | + "location": "iris:///data1/core006/accessH/production/resources/ACCESS-data/v20221027_viral_updates/hg19_virus.fa", |
89 | 78 | }, |
90 | 79 | "exac_filter": { |
91 | 80 | "class": "File", |
92 | | - "location": "iris:///data1/core006/accessH/production/resources/ACCESS-data/ExAC_nonTCGA.r0.3.1.sites.vep.vcf.gz" |
| 81 | + "location": "iris:///data1/core006/accessH/production/resources/ACCESS-data/ExAC_nonTCGA.r0.3.1.sites.vep.vcf.gz", |
93 | 82 | }, |
94 | 83 | "hotspots": { |
95 | 84 | "class": "File", |
96 | | - "location": "iris:///data1/core006/accessH/production/resources/ACCESS-data/hotspot-list-union-v1-v2.txt" |
| 85 | + "location": "iris:///data1/core006/accessH/production/resources/ACCESS-data/hotspot-list-union-v1-v2.txt", |
97 | 86 | }, |
98 | 87 | "blacklist_file": { |
99 | 88 | "class": "File", |
100 | | - "location": "iris:///data1/core006/accessH/production/resources/ACCESS-data/ACCESS_blacklist_20_05_2019.txt" |
| 89 | + "location": "iris:///data1/core006/accessH/production/resources/ACCESS-data/ACCESS_blacklist_20_05_2019.txt", |
| 90 | + }, |
| 91 | + "heme_hotspots": { |
| 92 | + "class": "File", |
| 93 | + "path": "iris:///usersoftware/core005/accessH/development/access_heme/resources/access_data/variant_calling/Hv1/ACCESSH_hotspots.txt", |
| 94 | + }, |
| 95 | + "heme_tsgs": { |
| 96 | + "class": "File", |
| 97 | + "path": "iris:///usersoftware/core005/accessH/development/access_heme/resources/access_data/variant_calling/Hv1/ACCESSH_TSGs.txt", |
101 | 98 | }, |
102 | 99 | "custom_enst_file": { |
103 | 100 | "class": "File", |
104 | | - "location": "iris:///usersoftware/core005/accessH/development/access_heme/resources/access_data/variant_calling/Hv1/dmp_isoform_merged_overrides.txt" |
| 101 | + "location": "iris:///usersoftware/core005/accessH/development/access_heme/resources/access_data/variant_calling/Hv1/dmp_isoform_merged_overrides.txt", |
105 | 102 | }, |
106 | 103 | "bed_file": { |
107 | 104 | "class": "File", |
108 | | - "location": "iris:///usersoftware/core005/accessH/development/access_heme/resources/access_data/variant_calling/Hv1/MSK-ACCESS-Heme-v1_canonicaltargets_500buffer.bed" |
| 105 | + "location": "iris:///usersoftware/core005/accessH/development/access_heme/resources/access_data/variant_calling/Hv1/MSK-ACCESS-Heme-v1_canonicaltargets_500buffer.bed", |
109 | 106 | }, |
110 | 107 | "annotate_concat_header_file": { |
111 | 108 | "class": "File", |
112 | | - "location": "iris:///data1/core006/accessH/production/resources/ACCESS-data/mutect_annotate_concat_header.txt" |
| 109 | + "location": "iris:///data1/core006/accessH/production/resources/ACCESS-data/mutect_annotate_concat_header.txt", |
113 | 110 | }, |
114 | 111 | "reference_bam_for_VC": { |
115 | 112 | "class": "File", |
116 | | - "location": "iris:///data1/core006/accessH/production/resources/Hv1/reference_bam_for_unmatched_VC/Donor3F41c2207-TPH01_ACCESSHv1-VAL-20220007_cl_aln_srt_MD_IR_FX_BR__aln_srt_IR_FX-duplex.bam" |
| 113 | + "location": "iris:///data1/core006/accessH/production/resources/Hv1/reference_bam_for_unmatched_VC/Donor3F41c2207-TPH01_ACCESSHv1-VAL-20220007_cl_aln_srt_MD_IR_FX_BR__aln_srt_IR_FX-duplex.bam", |
117 | 114 | }, |
118 | 115 | "reference_bam_for_SV": { |
119 | 116 | "class": "File", |
120 | | - "location": "iris:///data1/core006/accessH/production/resources/Hv1/reference_bam_for_SV/Donor3F41c2207-TPH01_ACCESSHv1-VAL-20220007_cl_aln_srt_MD_IR_FX_BR.bam" |
| 117 | + "location": "iris:///data1/core006/accessH/production/resources/Hv1/reference_bam_for_SV/Donor3F41c2207-TPH01_ACCESSHv1-VAL-20220007_cl_aln_srt_MD_IR_FX_BR.bam", |
121 | 118 | }, |
122 | 119 | "run_tools": { |
123 | | - "bcftools": "/usersoftware/core005/access/production/V1/tools/bcftools-1.9/bcftools", |
124 | | - "gbcms": "/usersoftware/core005/access/production/V1/tools/GetBaseCountsMultiSample-1.2.5/GetBaseCountsMultiSample", |
125 | | - "java_7": "/admin/software/migration-testing/java/jdk1.7.0_80/bin/java", |
126 | | - "mutect": "/usersoftware/core005/access/production/V1/tools/muTect/versions/v1.1.5/muTect-1.1.5.jar", |
127 | | - "vardict": "/usersoftware/core005/access/production/V1/tools/vardict/v1.5.1/bin/VarDict", |
128 | | - "vardict_testsomatic": "/usersoftware/core005/access/production/V1/tools/vardict/v1.5.1/vardict_328e00a/testsomatic.R", |
129 | | - "vardict_var2vcf_paired": "/usersoftware/core005/access/production/V1/tools/vardict/v1.5.1/vardict_328e00a/var2vcf_paired.pl", |
130 | | - "perl": "/usersoftware/core005/accessH/development/envs/ACCESS-HEME-voyager/bin/perl", |
131 | | - "vcf2maf": "/usersoftware/core005/access/production/V1/tools/vcf2maf/mskcc-vcf2maf-2235eed/vcf2maf.pl", |
132 | | - "vep_path": "/data1/core005/assets/msk-access/v1.0/vep/v86/", |
133 | | - "vep_data": "/data1/core005/assets/msk-access/v1.0/vep/cache/", |
134 | | - "tabix": "/usersoftware/core005/accessH/development/envs/ACCESS-HEME-voyager/bin/tabix", |
135 | | - "bgzip": "/usersoftware/core005/accessH/development/envs/ACCESS-HEME-voyager/bin/bgzip", |
136 | | - "sortbed": "/usersoftware/core005/accessH/development/envs/ACCESS-HEME-voyager/bin/sortBed", |
137 | | - "bcftools_1_6": "/usersoftware/core005/access/production/V1/tools/bcftools-1.9/bcftools" |
138 | | - } |
| 120 | + "bcftools": "/usersoftware/core005/access/production/V1/tools/bcftools-1.9/bcftools", |
| 121 | + "gbcms": "/usersoftware/core005/access/production/V1/tools/GetBaseCountsMultiSample-1.2.5/GetBaseCountsMultiSample", |
| 122 | + "java_7": "/admin/software/migration-testing/java/jdk1.7.0_80/bin/java", |
| 123 | + "mutect": "/usersoftware/core005/access/production/V1/tools/muTect/versions/v1.1.5/muTect-1.1.5.jar", |
| 124 | + "vardict": "/usersoftware/core005/access/production/V1/tools/vardict/v1.5.1/bin/VarDict", |
| 125 | + "vardict_testsomatic": "/usersoftware/core005/access/production/V1/tools/vardict/v1.5.1/vardict_328e00a/testsomatic.R", |
| 126 | + "vardict_var2vcf_paired": "/usersoftware/core005/access/production/V1/tools/vardict/v1.5.1/vardict_328e00a/var2vcf_paired.pl", |
| 127 | + "perl": "/usersoftware/core005/accessH/development/envs/ACCESS-HEME-voyager/bin/perl", |
| 128 | + "vcf2maf": "/usersoftware/core005/access/production/V1/tools/vcf2maf/mskcc-vcf2maf-2235eed/vcf2maf.pl", |
| 129 | + "vep_path": "/data1/core005/assets/msk-access/v1.0/vep/v86/", |
| 130 | + "vep_data": "/data1/core005/assets/msk-access/v1.0/vep/cache/", |
| 131 | + "tabix": "/usersoftware/core005/accessH/development/envs/ACCESS-HEME-voyager/bin/tabix", |
| 132 | + "bgzip": "/usersoftware/core005/accessH/development/envs/ACCESS-HEME-voyager/bin/bgzip", |
| 133 | + "sortbed": "/usersoftware/core005/accessH/development/envs/ACCESS-HEME-voyager/bin/sortBed", |
| 134 | + "bcftools_1_6": "/usersoftware/core005/access/production/V1/tools/bcftools-1.9/bcftools", |
| 135 | + }, |
139 | 136 | } |
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