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        If you use plots from MultiQC in a publication or presentation, please cite:

        MultiQC: Summarize analysis results for multiple tools and samples in a single report
        Philip Ewels, Måns Magnusson, Sverker Lundin and Max Käller
        Bioinformatics (2016)
        doi: 10.1093/bioinformatics/btw354
        PMID: 27312411

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        Tool Citations

        Please remember to cite the tools that you use in your analysis.

        To help with this, you can download publication details of the tools mentioned in this report:

        About MultiQC

        This report was generated using MultiQC, version 1.25.1

        You can see a YouTube video describing how to use MultiQC reports here: https://youtu.be/qPbIlO_KWN0

        For more information about MultiQC, including other videos and extensive documentation, please visit http://multiqc.info

        You can report bugs, suggest improvements and find the source code for MultiQC on GitHub: https://github.com/MultiQC/MultiQC

        MultiQC is published in Bioinformatics:

        MultiQC: Summarize analysis results for multiple tools and samples in a single report
        Philip Ewels, Måns Magnusson, Sverker Lundin and Max Käller
        Bioinformatics (2016)
        doi: 10.1093/bioinformatics/btw354
        PMID: 27312411

        A modular tool to aggregate results from bioinformatics analyses across many samples into a single report.

        This report has been generated by the nf-core/sarek analysis pipeline. For information about how to interpret these results, please see the documentation.

        Report generated on 2026-02-04, 10:02 UTC based on data in: /tmp/nxf.nEa9PonEyN


        Because this report contains a lot of samples, you may need to click 'Show plot' to see some graphs.

        General Statistics

        Showing 704 samples.

        Created with MultiQC

        Bcftools

        Utilities for variant calling and manipulating VCFs and BCFs.URL: https://samtools.github.io/bcftoolsDOI: 10.1093/gigascience/giab008

        Variant Substitution Types

        Created with MultiQC

        Variant Quality

        Created with MultiQC

        Indel Distribution

        Created with MultiQC

        Variant depths

        Read depth support distribution for called variants

        Created with MultiQC

        Vcftools

        Program to analyse and reporting on VCF files.URL: https://vcftools.github.ioDOI: 10.1093/bioinformatics/btr330

        TsTv by Count

        Plot of TSTV-BY-COUNT - the transition to transversion ratio as a function of alternative allele count from the output of vcftools TsTv-by-count.

        Transition is a purine-to-purine or pyrimidine-to-pyrimidine point mutations. Transversion is a purine-to-pyrimidine or pyrimidine-to-purine point mutation. Alternative allele count is the number of alternative alleles at the site. Note: only bi-allelic SNPs are used (multi-allelic sites and INDELs are skipped.) Refer to Vcftools's manual (https://vcftools.github.io/man_latest.html) on --TsTv-by-count

        Created with MultiQC

        TsTv by Qual

        Plot of TSTV-BY-QUAL - the transition to transversion ratio as a function of SNP quality from the output of vcftools TsTv-by-qual.

        Transition is a purine-to-purine or pyrimidine-to-pyrimidine point mutations. Transversion is a purine-to-pyrimidine or pyrimidine-to-purine point mutation. Quality here is the Phred-scaled quality score as given in the QUAL column of VCF. Note: only bi-allelic SNPs are used (multi-allelic sites and INDELs are skipped.) Refer to Vcftools's manual (https://vcftools.github.io/man_latest.html) on --TsTv-by-qual

        Created with MultiQC

        SNPeff

        Annotates and predicts the effects of variants on genes (such as amino acid changes).URL: http://snpeff.sourceforge.netDOI: 10.4161/fly.19695

        Variants by Genomic Region

        The stacked bar plot shows locations of detected variants in the genome and the number of variants for each location.

        The upstream and downstream interval size to detect these genomic regions is 5000bp by default.

        Created with MultiQC

        Variant Effects by Impact

        The stacked bar plot shows the putative impact of detected variants and the number of variants for each impact.

        There are four levels of impacts predicted by SnpEff:

        • High: High impact (like stop codon)
        • Moderate: Middle impact (like same type of amino acid substitution)
        • Low: Low impact (ie silence mutation)
        • Modifier: No impact
        Created with MultiQC

        Variants by Effect Types

        The stacked bar plot shows the effect of variants at protein level and the number of variants for each effect type.

        This plot shows the effect of variants with respect to the mRNA.

        Created with MultiQC

        Variants by Functional Class

        The stacked bar plot shows the effect of variants and the number of variants for each effect type.

        This plot shows the effect of variants on the translation of the mRNA as protein. There are three possible cases:

        • Silent: The amino acid does not change.
        • Missense: The amino acid is different.
        • Nonsense: The variant generates a stop codon.
        Created with MultiQC

        Variant Qualities

        The line plot shows the quantity as function of the variant quality score.

        The quality score corresponds to the QUAL column of the VCF file. This score is set by the variant caller.

        Created with MultiQC

        VEP

        Determines the effect of variants on genes, transcripts and protein sequences, as well as regulatory regions.URL: https://www.ensembl.org/info/docs/tools/vep/index.htmlDOI: 10.1186/s13059-016-0974-4

        General Statistics

        Table showing general statistics of VEP annotation run

        Showing 0/352 rows and 7/8 columns.
        Sample NameOverlapped regulatory featuresOverlapped transcriptsOverlapped genesExisting variantsNovel variantsVariants filtered outVariants processedLines of input read
        1029_032-N1-BDNA-1_2375WFLT3_s01.entropy.entropy_custom.ann_snpEff_VEP.ann
        1018
        17361
        16747
        30556
        0
        0
        30556
        30556
        1029_032-T1-TDNA-1_23FC2GLT4_s01_vs_1029_032-N1-BDNA-1_2375WFLT3_s01.manta.diploid_sv_custom.ann_snpEff_VEP.ann
        54
        254
        254
        173
        0
        0
        173
        173
        1029_032-T1-TDNA-1_23FC2GLT4_s01_vs_1029_032-N1-BDNA-1_2375WFLT3_s01.manta.somatic_sv_custom.ann_snpEff_VEP.ann
        5
        84
        84
        131
        0
        0
        131
        131
        1029_032-T1-TDNA-1_23FC2GLT4_s01_vs_1029_032-N1-BDNA-1_2375WFLT3_s01.mutect2.filtered_custom.ann_snpEff_VEP.ann
        305
        5569
        5492
        9005
        0
        0
        9005
        9005
        1029_032-T1-TDNA-1_23FC2GLT4_s01_vs_1029_032-N1-BDNA-1_2375WFLT3_s01.mutect2.whatshap.phased_custom.ann_snpEff_VEP.ann
        305
        5569
        5492
        9005
        0
        0
        9005
        9005
        1029_032-T1-TDNA-1_23FC2GLT4_s01_vs_1029_032-N1-BDNA-1_2375WFLT3_s01.strelka.somatic_indels_custom.ann_snpEff_VEP.ann
        126
        2566
        2544
        1825
        0
        0
        1825
        1825
        1029_032-T1-TDNA-1_23FC2GLT4_s01_vs_1029_032-N1-BDNA-1_2375WFLT3_s01.strelka.somatic_snvs_custom.ann_snpEff_VEP.ann
        464
        12530
        12196
        17185
        0
        0
        17185
        17185
        1029_032-T1-TDNA-1_23FC2GLT4_s01_vs_1029_032-N1-BDNA-1_2375WFLT3_s01.tnseq.filtered_custom.ann_snpEff_VEP.ann
        988
        17973
        17362
        33061
        0
        0
        33061
        33061
        1029_05O-N1-BDNA-1_2375WFLT3_s02.entropy.entropy_custom.ann_snpEff_VEP.ann
        54
        222
        222
        137
        0
        0
        137
        137
        1029_05O-T1-TDNA-1_23FC2GLT4_s02_vs_1029_05O-N1-BDNA-1_2375WFLT3_s02.manta.diploid_sv_custom.ann_snpEff_VEP.ann
        48
        235
        235
        147
        0
        0
        147
        148
        1029_05O-T1-TDNA-1_23FC2GLT4_s02_vs_1029_05O-N1-BDNA-1_2375WFLT3_s02.manta.somatic_sv_custom.ann_snpEff_VEP.ann
        0
        11
        11
        17
        0
        0
        17
        17
        1029_05O-T1-TDNA-1_23FC2GLT4_s02_vs_1029_05O-N1-BDNA-1_2375WFLT3_s02.mutect2.filtered_custom.ann_snpEff_VEP.ann
        245
        4482
        4425
        5979
        0
        0
        5979
        5979
        1029_05O-T1-TDNA-1_23FC2GLT4_s02_vs_1029_05O-N1-BDNA-1_2375WFLT3_s02.mutect2.whatshap.phased_custom.ann_snpEff_VEP.ann
        245
        4482
        4425
        5979
        0
        0
        5979
        5979
        1029_05O-T1-TDNA-1_23FC2GLT4_s02_vs_1029_05O-N1-BDNA-1_2375WFLT3_s02.strelka.somatic_indels_custom.ann_snpEff_VEP.ann
        108
        1888
        1879
        1308
        0
        0
        1308
        1308
        1029_05O-T1-TDNA-1_23FC2GLT4_s02_vs_1029_05O-N1-BDNA-1_2375WFLT3_s02.strelka.somatic_snvs_custom.ann_snpEff_VEP.ann
        631
        12729
        12374
        17036
        0
        0
        17036
        17036
        1029_05O-T1-TDNA-1_23FC2GLT4_s02_vs_1029_05O-N1-BDNA-1_2375WFLT3_s02.tnseq.filtered_custom.ann_snpEff_VEP.ann
        886
        17284
        16701
        28223
        0
        0
        28223
        28223
        1029_0DT-N1-BDNA-1_2375WFLT3_s03.entropy.entropy_custom.ann_snpEff_VEP.ann
        1006
        17410
        16790
        29566
        0
        0
        29566
        29566
        1029_0DT-T1-TDNA-1_23FC2GLT4_s03_vs_1029_0DT-N1-BDNA-1_2375WFLT3_s03.manta.diploid_sv_custom.ann_snpEff_VEP.ann
        61
        271
        271
        173
        0
        0
        173
        174
        1029_0DT-T1-TDNA-1_23FC2GLT4_s03_vs_1029_0DT-N1-BDNA-1_2375WFLT3_s03.manta.somatic_sv_custom.ann_snpEff_VEP.ann
        1
        62
        62
        86
        0
        0
        86
        86
        1029_0DT-T1-TDNA-1_23FC2GLT4_s03_vs_1029_0DT-N1-BDNA-1_2375WFLT3_s03.mutect2.filtered_custom.ann_snpEff_VEP.ann
        327
        5252
        5189
        9210
        0
        0
        9210
        9210
        1029_0DT-T1-TDNA-1_23FC2GLT4_s03_vs_1029_0DT-N1-BDNA-1_2375WFLT3_s03.mutect2.whatshap.phased_custom.ann_snpEff_VEP.ann
        327
        5252
        5189
        9210
        0
        0
        9210
        9210
        1029_0DT-T1-TDNA-1_23FC2GLT4_s03_vs_1029_0DT-N1-BDNA-1_2375WFLT3_s03.strelka.somatic_indels_custom.ann_snpEff_VEP.ann
        129
        2625
        2606
        1757
        0
        0
        1757
        1757
        1029_0DT-T1-TDNA-1_23FC2GLT4_s03_vs_1029_0DT-N1-BDNA-1_2375WFLT3_s03.strelka.somatic_snvs_custom.ann_snpEff_VEP.ann
        415
        8998
        8830
        10472
        0
        0
        10472
        10472
        1029_0DT-T1-TDNA-1_23FC2GLT4_s03_vs_1029_0DT-N1-BDNA-1_2375WFLT3_s03.tnseq.filtered_custom.ann_snpEff_VEP.ann
        1014
        18036
        17422
        32459
        0
        0
        32459
        32459
        1029_0NX-N1-BDNA-1_2375WFLT3_s04.entropy.entropy_custom.ann_snpEff_VEP.ann
        1018
        17940
        17307
        30147
        0
        0
        30147
        30147
        1029_0NX-T1-TDNA-1_23FC2GLT4_s04_vs_1029_0NX-N1-BDNA-1_2375WFLT3_s04.manta.diploid_sv_custom.ann_snpEff_VEP.ann
        68
        264
        264
        187
        0
        0
        187
        187
        1029_0NX-T1-TDNA-1_23FC2GLT4_s04_vs_1029_0NX-N1-BDNA-1_2375WFLT3_s04.manta.somatic_sv_custom.ann_snpEff_VEP.ann
        3
        106
        106
        158
        0
        0
        158
        160
        1029_0NX-T1-TDNA-1_23FC2GLT4_s04_vs_1029_0NX-N1-BDNA-1_2375WFLT3_s04.mutect2.filtered_custom.ann_snpEff_VEP.ann
        332
        5657
        5585
        9800
        0
        0
        9800
        9800
        1029_0NX-T1-TDNA-1_23FC2GLT4_s04_vs_1029_0NX-N1-BDNA-1_2375WFLT3_s04.mutect2.whatshap.phased_custom.ann_snpEff_VEP.ann
        332
        5657
        5585
        9800
        0
        0
        9800
        9800
        1029_0NX-T1-TDNA-1_23FC2GLT4_s04_vs_1029_0NX-N1-BDNA-1_2375WFLT3_s04.strelka.somatic_indels_custom.ann_snpEff_VEP.ann
        144
        2437
        2424
        1688
        0
        0
        1688
        1688
        1029_0NX-T1-TDNA-1_23FC2GLT4_s04_vs_1029_0NX-N1-BDNA-1_2375WFLT3_s04.strelka.somatic_snvs_custom.ann_snpEff_VEP.ann
        393
        10026
        9825
        12296
        0
        0
        12296
        12296
        1029_0NX-T1-TDNA-1_23FC2GLT4_s04_vs_1029_0NX-N1-BDNA-1_2375WFLT3_s04.tnseq.filtered_custom.ann_snpEff_VEP.ann
        1027
        18583
        17953
        34363
        0
        0
        34363
        34363
        1029_1G0-N1-BDNA-1_2375WFLT3_s05.entropy.entropy_custom.ann_snpEff_VEP.ann
        1019
        17444
        16826
        30706
        0
        0
        30706
        30706
        1029_1G0-T1-TDNA-1_23FC2GLT4_s05_vs_1029_1G0-N1-BDNA-1_2375WFLT3_s05.manta.diploid_sv_custom.ann_snpEff_VEP.ann
        41
        252
        252
        166
        0
        0
        166
        166
        1029_1G0-T1-TDNA-1_23FC2GLT4_s05_vs_1029_1G0-N1-BDNA-1_2375WFLT3_s05.manta.somatic_sv_custom.ann_snpEff_VEP.ann
        14
        119
        119
        125
        0
        0
        125
        125
        1029_1G0-T1-TDNA-1_23FC2GLT4_s05_vs_1029_1G0-N1-BDNA-1_2375WFLT3_s05.mutect2.filtered_custom.ann_snpEff_VEP.ann
        654
        13770
        13423
        22681
        0
        0
        22681
        22681
        1029_1G0-T1-TDNA-1_23FC2GLT4_s05_vs_1029_1G0-N1-BDNA-1_2375WFLT3_s05.mutect2.whatshap.phased_custom.ann_snpEff_VEP.ann
        654
        13770
        13423
        22681
        0
        0
        22681
        22681
        1029_1G0-T1-TDNA-1_23FC2GLT4_s05_vs_1029_1G0-N1-BDNA-1_2375WFLT3_s05.strelka.somatic_indels_custom.ann_snpEff_VEP.ann
        176
        3300
        3263
        2339
        0
        0
        2339
        2339
        1029_1G0-T1-TDNA-1_23FC2GLT4_s05_vs_1029_1G0-N1-BDNA-1_2375WFLT3_s05.strelka.somatic_snvs_custom.ann_snpEff_VEP.ann
        938
        18361
        17702
        29774
        0
        0
        29774
        29774
        1029_1G0-T1-TDNA-1_23FC2GLT4_s05_vs_1029_1G0-N1-BDNA-1_2375WFLT3_s05.tnseq.filtered_custom.ann_snpEff_VEP.ann
        1338
        22188
        21273
        48363
        0
        0
        48363
        48363
        1029_1H5-N1-BDNA-1_2375WFLT3_s06.entropy.entropy_custom.ann_snpEff_VEP.ann
        991
        17470
        16845
        29307
        0
        0
        29307
        29307
        1029_1H5-T1-TDNA-1_23FC2GLT4_s06_vs_1029_1H5-N1-BDNA-1_2375WFLT3_s06.manta.diploid_sv_custom.ann_snpEff_VEP.ann
        44
        262
        262
        171
        0
        0
        171
        171
        1029_1H5-T1-TDNA-1_23FC2GLT4_s06_vs_1029_1H5-N1-BDNA-1_2375WFLT3_s06.manta.somatic_sv_custom.ann_snpEff_VEP.ann
        3
        56
        56
        82
        0
        0
        82
        82
        1029_1H5-T1-TDNA-1_23FC2GLT4_s06_vs_1029_1H5-N1-BDNA-1_2375WFLT3_s06.mutect2.filtered_custom.ann_snpEff_VEP.ann
        346
        5776
        5693
        9028
        0
        0
        9028
        9028
        1029_1H5-T1-TDNA-1_23FC2GLT4_s06_vs_1029_1H5-N1-BDNA-1_2375WFLT3_s06.mutect2.whatshap.phased_custom.ann_snpEff_VEP.ann
        346
        5776
        5693
        9028
        0
        0
        9028
        9028
        1029_1H5-T1-TDNA-1_23FC2GLT4_s06_vs_1029_1H5-N1-BDNA-1_2375WFLT3_s06.strelka.somatic_indels_custom.ann_snpEff_VEP.ann
        129
        2722
        2704
        1953
        0
        0
        1953
        1953
        1029_1H5-T1-TDNA-1_23FC2GLT4_s06_vs_1029_1H5-N1-BDNA-1_2375WFLT3_s06.strelka.somatic_snvs_custom.ann_snpEff_VEP.ann
        562
        13017
        12650
        17547
        0
        0
        17547
        17547
        1029_1H5-T1-TDNA-1_23FC2GLT4_s06_vs_1029_1H5-N1-BDNA-1_2375WFLT3_s06.tnseq.filtered_custom.ann_snpEff_VEP.ann
        1043
        18405
        17746
        33633
        0
        0
        33633
        33633
        1029_2IN-N1-BDNA-1_2375WFLT3_s07.entropy.entropy_custom.ann_snpEff_VEP.ann
        33
        181
        181
        115
        0
        0
        115
        115
        1029_2IN-T1-TDNA-1_23FC2GLT4_s07_vs_1029_2IN-N1-BDNA-1_2375WFLT3_s07.manta.diploid_sv_custom.ann_snpEff_VEP.ann
        43
        236
        236
        152
        0
        0
        152
        152
        1029_2IN-T1-TDNA-1_23FC2GLT4_s07_vs_1029_2IN-N1-BDNA-1_2375WFLT3_s07.manta.somatic_sv_custom.ann_snpEff_VEP.ann
        19
        200
        200
        292
        0
        0
        292
        294
        1029_2IN-T1-TDNA-1_23FC2GLT4_s07_vs_1029_2IN-N1-BDNA-1_2375WFLT3_s07.mutect2.filtered_custom.ann_snpEff_VEP.ann
        436
        8734
        8587
        14497
        0
        0
        14497
        14497
        1029_2IN-T1-TDNA-1_23FC2GLT4_s07_vs_1029_2IN-N1-BDNA-1_2375WFLT3_s07.mutect2.whatshap.phased_custom.ann_snpEff_VEP.ann
        436
        8734
        8587
        14497
        0
        0
        14497
        14497
        1029_2IN-T1-TDNA-1_23FC2GLT4_s07_vs_1029_2IN-N1-BDNA-1_2375WFLT3_s07.strelka.somatic_indels_custom.ann_snpEff_VEP.ann
        164
        3225
        3200
        2298
        0
        0
        2298
        2298
        1029_2IN-T1-TDNA-1_23FC2GLT4_s07_vs_1029_2IN-N1-BDNA-1_2375WFLT3_s07.strelka.somatic_snvs_custom.ann_snpEff_VEP.ann
        556
        12582
        12275
        16433
        0
        0
        16433
        16433
        1029_2IN-T1-TDNA-1_23FC2GLT4_s07_vs_1029_2IN-N1-BDNA-1_2375WFLT3_s07.tnseq.filtered_custom.ann_snpEff_VEP.ann
        1154
        19602
        18900
        40089
        0
        0
        40089
        40089
        1029_2LI-N1-BDNA-1_2375WFLT3_s08.entropy.entropy_custom.ann_snpEff_VEP.ann
        35
        196
        196
        131
        0
        0
        131
        131
        1029_2LI-T1-TDNA-1_23FC2GLT4_s08_vs_1029_2LI-N1-BDNA-1_2375WFLT3_s08.manta.diploid_sv_custom.ann_snpEff_VEP.ann
        40
        235
        235
        157
        0
        0
        157
        157
        1029_2LI-T1-TDNA-1_23FC2GLT4_s08_vs_1029_2LI-N1-BDNA-1_2375WFLT3_s08.manta.somatic_sv_custom.ann_snpEff_VEP.ann
        1
        58
        58
        68
        0
        0
        68
        69
        1029_2LI-T1-TDNA-1_23FC2GLT4_s08_vs_1029_2LI-N1-BDNA-1_2375WFLT3_s08.mutect2.filtered_custom.ann_snpEff_VEP.ann
        305
        5926
        5846
        8796
        0
        0
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        1029_BLH5-N1-BDNA-1_2375WFLT3_s37.entropy.entropy_custom.ann_snpEff_VEP.ann
        1032
        17772
        17113
        30071
        0
        0
        30071
        30071
        1029_BLH5-T1-TDNA-1_23FC2GLT4_s38_vs_1029_BLH5-N1-BDNA-1_2375WFLT3_s37.manta.diploid_sv_custom.ann_snpEff_VEP.ann
        53
        255
        255
        180
        0
        0
        180
        180
        1029_BLH5-T1-TDNA-1_23FC2GLT4_s38_vs_1029_BLH5-N1-BDNA-1_2375WFLT3_s37.manta.somatic_sv_custom.ann_snpEff_VEP.ann
        1
        69
        69
        93
        0
        0
        93
        93
        1029_BLH5-T1-TDNA-1_23FC2GLT4_s38_vs_1029_BLH5-N1-BDNA-1_2375WFLT3_s37.mutect2.filtered_custom.ann_snpEff_VEP.ann
        311
        5447
        5372
        8439
        0
        0
        8439
        8439
        1029_BLH5-T1-TDNA-1_23FC2GLT4_s38_vs_1029_BLH5-N1-BDNA-1_2375WFLT3_s37.mutect2.whatshap.phased_custom.ann_snpEff_VEP.ann
        311
        5447
        5372
        8439
        0
        0
        8439
        8439
        1029_BLH5-T1-TDNA-1_23FC2GLT4_s38_vs_1029_BLH5-N1-BDNA-1_2375WFLT3_s37.strelka.somatic_indels_custom.ann_snpEff_VEP.ann
        123
        2619
        2602
        1787
        0
        0
        1787
        1787
        1029_BLH5-T1-TDNA-1_23FC2GLT4_s38_vs_1029_BLH5-N1-BDNA-1_2375WFLT3_s37.strelka.somatic_snvs_custom.ann_snpEff_VEP.ann
        529
        11233
        10979
        14112
        0
        0
        14112
        14112
        1029_BLH5-T1-TDNA-1_23FC2GLT4_s38_vs_1029_BLH5-N1-BDNA-1_2375WFLT3_s37.tnseq.filtered_custom.ann_snpEff_VEP.ann
        1015
        18342
        17681
        33006
        0
        0
        33006
        33006
        1029_BLU1-N1-BDNA-1_2375WFLT3_s38.entropy.entropy_custom.ann_snpEff_VEP.ann
        963
        17265
        16668
        28635
        0
        0
        28635
        28635
        1029_BLU1-T1-TDNA-1_23FC2GLT4_s39_vs_1029_BLU1-N1-BDNA-1_2375WFLT3_s38.manta.diploid_sv_custom.ann_snpEff_VEP.ann
        60
        263
        263
        164
        0
        0
        164
        164
        1029_BLU1-T1-TDNA-1_23FC2GLT4_s39_vs_1029_BLU1-N1-BDNA-1_2375WFLT3_s38.manta.somatic_sv_custom.ann_snpEff_VEP.ann
        2
        42
        42
        52
        0
        0
        52
        53
        1029_BLU1-T1-TDNA-1_23FC2GLT4_s39_vs_1029_BLU1-N1-BDNA-1_2375WFLT3_s38.mutect2.filtered_custom.ann_snpEff_VEP.ann
        267
        4460
        4408
        7166
        0
        0
        7166
        7166
        1029_BLU1-T1-TDNA-1_23FC2GLT4_s39_vs_1029_BLU1-N1-BDNA-1_2375WFLT3_s38.mutect2.whatshap.phased_custom.ann_snpEff_VEP.ann
        267
        4460
        4408
        7166
        0
        0
        7166
        7166
        1029_BLU1-T1-TDNA-1_23FC2GLT4_s39_vs_1029_BLU1-N1-BDNA-1_2375WFLT3_s38.strelka.somatic_indels_custom.ann_snpEff_VEP.ann
        97
        2121
        2110
        1426
        0
        0
        1426
        1426
        1029_BLU1-T1-TDNA-1_23FC2GLT4_s39_vs_1029_BLU1-N1-BDNA-1_2375WFLT3_s38.strelka.somatic_snvs_custom.ann_snpEff_VEP.ann
        204
        6172
        6098
        6839
        0
        0
        6839
        6839
        1029_BLU1-T1-TDNA-1_23FC2GLT4_s39_vs_1029_BLU1-N1-BDNA-1_2375WFLT3_s38.tnseq.filtered_custom.ann_snpEff_VEP.ann
        917
        17381
        16820
        29661
        0
        0
        29661
        29661
        1029_BN9Y-N1-BDNA-1_2375WFLT3_s39.entropy.entropy_custom.ann_snpEff_VEP.ann
        1021
        17307
        16705
        30418
        0
        0
        30418
        30418
        1029_BN9Y-T1-TDNA-1_23FC2GLT4_s40_vs_1029_BN9Y-N1-BDNA-1_2375WFLT3_s39.manta.diploid_sv_custom.ann_snpEff_VEP.ann
        57
        235
        235
        171
        0
        0
        171
        171
        1029_BN9Y-T1-TDNA-1_23FC2GLT4_s40_vs_1029_BN9Y-N1-BDNA-1_2375WFLT3_s39.manta.somatic_sv_custom.ann_snpEff_VEP.ann
        2
        75
        75
        102
        0
        0
        102
        104
        1029_BN9Y-T1-TDNA-1_23FC2GLT4_s40_vs_1029_BN9Y-N1-BDNA-1_2375WFLT3_s39.mutect2.filtered_custom.ann_snpEff_VEP.ann
        323
        6024
        5941
        9419
        0
        0
        9419
        9419
        1029_BN9Y-T1-TDNA-1_23FC2GLT4_s40_vs_1029_BN9Y-N1-BDNA-1_2375WFLT3_s39.mutect2.whatshap.phased_custom.ann_snpEff_VEP.ann
        323
        6024
        5941
        9419
        0
        0
        9419
        9419
        1029_BN9Y-T1-TDNA-1_23FC2GLT4_s40_vs_1029_BN9Y-N1-BDNA-1_2375WFLT3_s39.strelka.somatic_indels_custom.ann_snpEff_VEP.ann
        138
        2753
        2734
        1973
        0
        0
        1973
        1973
        1029_BN9Y-T1-TDNA-1_23FC2GLT4_s40_vs_1029_BN9Y-N1-BDNA-1_2375WFLT3_s39.strelka.somatic_snvs_custom.ann_snpEff_VEP.ann
        594
        12757
        12400
        17301
        0
        0
        17301
        17301
        1029_BN9Y-T1-TDNA-1_23FC2GLT4_s40_vs_1029_BN9Y-N1-BDNA-1_2375WFLT3_s39.tnseq.filtered_custom.ann_snpEff_VEP.ann
        994
        18138
        17520
        33262
        0
        0
        33262
        33262
        1029_BNG8-N1-BDNA-1_2375WFLT3_s40.entropy.entropy_custom.ann_snpEff_VEP.ann
        989
        17616
        17001
        29692
        0
        0
        29692
        29692
        1029_BNG8-T1-TDNA-1_23FC2GLT4_s41_vs_1029_BNG8-N1-BDNA-1_2375WFLT3_s40.manta.diploid_sv_custom.ann_snpEff_VEP.ann
        45
        200
        200
        114
        0
        0
        114
        114
        1029_BNG8-T1-TDNA-1_23FC2GLT4_s41_vs_1029_BNG8-N1-BDNA-1_2375WFLT3_s40.manta.somatic_sv_custom.ann_snpEff_VEP.ann
        4
        159
        159
        214
        0
        0
        214
        215
        1029_BNG8-T1-TDNA-1_23FC2GLT4_s41_vs_1029_BNG8-N1-BDNA-1_2375WFLT3_s40.mutect2.filtered_custom.ann_snpEff_VEP.ann
        586
        11323
        11074
        21242
        0
        0
        21242
        21242
        1029_BNG8-T1-TDNA-1_23FC2GLT4_s41_vs_1029_BNG8-N1-BDNA-1_2375WFLT3_s40.mutect2.whatshap.phased_custom.ann_snpEff_VEP.ann
        586
        11323
        11074
        21242
        0
        0
        21242
        21242
        1029_BNG8-T1-TDNA-1_23FC2GLT4_s41_vs_1029_BNG8-N1-BDNA-1_2375WFLT3_s40.strelka.somatic_indels_custom.ann_snpEff_VEP.ann
        162
        2906
        2885
        2061
        0
        0
        2061
        2061
        1029_BNG8-T1-TDNA-1_23FC2GLT4_s41_vs_1029_BNG8-N1-BDNA-1_2375WFLT3_s40.strelka.somatic_snvs_custom.ann_snpEff_VEP.ann
        217
        7250
        7125
        8072
        0
        0
        8072
        8072
        1029_BNG8-T1-TDNA-1_23FC2GLT4_s41_vs_1029_BNG8-N1-BDNA-1_2375WFLT3_s40.tnseq.filtered_custom.ann_snpEff_VEP.ann
        1385
        21542
        20651
        48660
        0
        0
        48660
        48660
        1029_BO4Y-N1-BDNA-1_2375WFLT3_s41.entropy.entropy_custom.ann_snpEff_VEP.ann
        966
        17532
        16945
        29236
        0
        0
        29236
        29236
        1029_BO4Y-T1-TDNA-1_23FC2GLT4_s42_vs_1029_BO4Y-N1-BDNA-1_2375WFLT3_s41.manta.diploid_sv_custom.ann_snpEff_VEP.ann
        40
        245
        245
        165
        0
        0
        165
        165
        1029_BO4Y-T1-TDNA-1_23FC2GLT4_s42_vs_1029_BO4Y-N1-BDNA-1_2375WFLT3_s41.manta.somatic_sv_custom.ann_snpEff_VEP.ann
        1
        80
        80
        112
        0
        0
        112
        114
        1029_BO4Y-T1-TDNA-1_23FC2GLT4_s42_vs_1029_BO4Y-N1-BDNA-1_2375WFLT3_s41.mutect2.filtered_custom.ann_snpEff_VEP.ann
        252
        4063
        4008
        7100
        0
        0
        7100
        7100
        1029_BO4Y-T1-TDNA-1_23FC2GLT4_s42_vs_1029_BO4Y-N1-BDNA-1_2375WFLT3_s41.mutect2.whatshap.phased_custom.ann_snpEff_VEP.ann
        252
        4063
        4008
        7100
        0
        0
        7100
        7100
        1029_BO4Y-T1-TDNA-1_23FC2GLT4_s42_vs_1029_BO4Y-N1-BDNA-1_2375WFLT3_s41.strelka.somatic_indels_custom.ann_snpEff_VEP.ann
        91
        1843
        1831
        1267
        0
        0
        1267
        1267
        1029_BO4Y-T1-TDNA-1_23FC2GLT4_s42_vs_1029_BO4Y-N1-BDNA-1_2375WFLT3_s41.strelka.somatic_snvs_custom.ann_snpEff_VEP.ann
        271
        7000
        6899
        8027
        0
        0
        8027
        8027
        1029_BO4Y-T1-TDNA-1_23FC2GLT4_s42_vs_1029_BO4Y-N1-BDNA-1_2375WFLT3_s41.tnseq.filtered_custom.ann_snpEff_VEP.ann
        883
        17423
        16878
        30167
        0
        0
        30167
        30167
        1029_BOHJ-N1-BDNA-1_2375WFLT3_s42.entropy.entropy_custom.ann_snpEff_VEP.ann
        982
        17380
        16772
        29209
        0
        0
        29209
        29209
        1029_BOHJ-T1-TDNA-1_23FC2GLT4_s43_vs_1029_BOHJ-N1-BDNA-1_2375WFLT3_s42.manta.diploid_sv_custom.ann_snpEff_VEP.ann
        44
        242
        242
        188
        0
        0
        188
        188
        1029_BOHJ-T1-TDNA-1_23FC2GLT4_s43_vs_1029_BOHJ-N1-BDNA-1_2375WFLT3_s42.manta.somatic_sv_custom.ann_snpEff_VEP.ann
        17
        84
        84
        90
        0
        0
        90
        90
        1029_BOHJ-T1-TDNA-1_23FC2GLT4_s43_vs_1029_BOHJ-N1-BDNA-1_2375WFLT3_s42.mutect2.filtered_custom.ann_snpEff_VEP.ann
        708
        14931
        14541
        23118
        0
        0
        23118
        23118
        1029_BOHJ-T1-TDNA-1_23FC2GLT4_s43_vs_1029_BOHJ-N1-BDNA-1_2375WFLT3_s42.mutect2.whatshap.phased_custom.ann_snpEff_VEP.ann
        708
        14931
        14541
        23118
        0
        0
        23118
        23118
        1029_BOHJ-T1-TDNA-1_23FC2GLT4_s43_vs_1029_BOHJ-N1-BDNA-1_2375WFLT3_s42.strelka.somatic_indels_custom.ann_snpEff_VEP.ann
        183
        3185
        3152
        2407
        0
        0
        2407
        2407
        1029_BOHJ-T1-TDNA-1_23FC2GLT4_s43_vs_1029_BOHJ-N1-BDNA-1_2375WFLT3_s42.strelka.somatic_snvs_custom.ann_snpEff_VEP.ann
        1205
        20752
        19975
        38521
        0
        0
        38521
        38521
        1029_BOHJ-T1-TDNA-1_23FC2GLT4_s43_vs_1029_BOHJ-N1-BDNA-1_2375WFLT3_s42.tnseq.filtered_custom.ann_snpEff_VEP.ann
        1295
        22288
        21403
        46455
        0
        0
        46455
        46455
        1029_BOSD-N1-BDNA-1_2375WFLT3_s43.entropy.entropy_custom.ann_snpEff_VEP.ann
        997
        17339
        16735
        29847
        0
        0
        29847
        29847
        1029_BOSD-T1-TDNA-1_23FC2GLT4_s44_vs_1029_BOSD-N1-BDNA-1_2375WFLT3_s43.manta.diploid_sv_custom.ann_snpEff_VEP.ann
        38
        255
        255
        163
        0
        0
        163
        164
        1029_BOSD-T1-TDNA-1_23FC2GLT4_s44_vs_1029_BOSD-N1-BDNA-1_2375WFLT3_s43.manta.somatic_sv_custom.ann_snpEff_VEP.ann
        0
        80
        80
        104
        0
        0
        104
        105
        1029_BOSD-T1-TDNA-1_23FC2GLT4_s44_vs_1029_BOSD-N1-BDNA-1_2375WFLT3_s43.mutect2.filtered_custom.ann_snpEff_VEP.ann
        306
        6236
        6150
        9213
        0
        0
        9213
        9213
        1029_BOSD-T1-TDNA-1_23FC2GLT4_s44_vs_1029_BOSD-N1-BDNA-1_2375WFLT3_s43.mutect2.whatshap.phased_custom.ann_snpEff_VEP.ann
        306
        6236
        6150
        9213
        0
        0
        9213
        9213
        1029_BOSD-T1-TDNA-1_23FC2GLT4_s44_vs_1029_BOSD-N1-BDNA-1_2375WFLT3_s43.strelka.somatic_indels_custom.ann_snpEff_VEP.ann
        145
        2799
        2775
        1976
        0
        0
        1976
        1976
        1029_BOSD-T1-TDNA-1_23FC2GLT4_s44_vs_1029_BOSD-N1-BDNA-1_2375WFLT3_s43.strelka.somatic_snvs_custom.ann_snpEff_VEP.ann
        429
        10491
        10256
        13463
        0
        0
        13463
        13463
        1029_BOSD-T1-TDNA-1_23FC2GLT4_s44_vs_1029_BOSD-N1-BDNA-1_2375WFLT3_s43.tnseq.filtered_custom.ann_snpEff_VEP.ann
        959
        18163
        17534
        32301
        0
        0
        32301
        32301
        1029_BP21-N1-BDNA-1_2375WFLT3_s44.entropy.entropy_custom.ann_snpEff_VEP.ann
        50
        186
        186
        153
        0
        0
        153
        153
        1029_BP21-T1-TDNA-1_23FC2GLT4_s45_vs_1029_BP21-N1-BDNA-1_2375WFLT3_s44.manta.diploid_sv_custom.ann_snpEff_VEP.ann
        53
        217
        217
        176
        0
        0
        176
        176
        1029_BP21-T1-TDNA-1_23FC2GLT4_s45_vs_1029_BP21-N1-BDNA-1_2375WFLT3_s44.manta.somatic_sv_custom.ann_snpEff_VEP.ann
        1
        66
        66
        77
        0
        0
        77
        78
        1029_BP21-T1-TDNA-1_23FC2GLT4_s45_vs_1029_BP21-N1-BDNA-1_2375WFLT3_s44.mutect2.filtered_custom.ann_snpEff_VEP.ann
        323
        5731
        5659
        8803
        0
        0
        8803
        8803
        1029_BP21-T1-TDNA-1_23FC2GLT4_s45_vs_1029_BP21-N1-BDNA-1_2375WFLT3_s44.mutect2.whatshap.phased_custom.ann_snpEff_VEP.ann
        323
        5731
        5659
        8803
        0
        0
        8803
        8803
        1029_BP21-T1-TDNA-1_23FC2GLT4_s45_vs_1029_BP21-N1-BDNA-1_2375WFLT3_s44.strelka.somatic_indels_custom.ann_snpEff_VEP.ann
        86
        1990
        1979
        1344
        0
        0
        1344
        1344
        1029_BP21-T1-TDNA-1_23FC2GLT4_s45_vs_1029_BP21-N1-BDNA-1_2375WFLT3_s44.strelka.somatic_snvs_custom.ann_snpEff_VEP.ann
        261
        7582
        7457
        7761
        0
        0
        7761
        7761
        1029_BP21-T1-TDNA-1_23FC2GLT4_s45_vs_1029_BP21-N1-BDNA-1_2375WFLT3_s44.tnseq.filtered_custom.ann_snpEff_VEP.ann
        1025
        18423
        17808
        33485
        0
        0
        33485
        33485

        Variant classes

        Classes of variants found in the data.

        Created with MultiQC

        Consequences

        Predicted consequences of variations.

        Created with MultiQC

        SIFT summary

        SIFT variant effect prediction.

        Created with MultiQC

        PolyPhen summary

        PolyPhen variant effect prediction.

        Created with MultiQC

        Variants by chromosome

        Number of variants found on each chromosome.

        Created with MultiQC

        Position in protein

        Relative position of affected amino acids in protein.

        Created with MultiQC

        Software Versions

        Software Versions lists versions of software tools extracted from file contents.

        GroupSoftwareVersion
        AGGREGATE_VARIANT_QCaggregate_qc_metrics1.0.0
        python3.12.6
        ASCATalleleCounter4.3.0
        ascat3.1.1
        BCFTOOLS_ANNOTATEbcftools1.2
        BCFTOOLS_QUERYbcftools1.22
        BCFTOOLS_STATSbcftools1.2
        CALCULATECONTAMINATIONgatk44.5.0.0
        CNNSCOREVARIANTSgatk44.5.0.0
        CNVKIT_BATCHcnvkit0.9.10
        CNVKIT_CALLcnvkit0.9.10
        CNVKIT_EXPORTcnvkit0.9.10
        CNVKIT_GENEMETRICScnvkit0.9.10
        CNV_FACETSfacets0.6.2
        CONPAIR_CONTAMINATIONconpair1.0
        numpy1.24.4
        python3.8.20
        CONPAIR_PILEUPconpair1.0
        gatk4.6.2.0 Using
        python3.8.20
        ENSEMBLVEP_VEPensemblvep113.0
        FILTERMUTECTCALLSgatk44.5.0.0
        FILTERVARIANTTRANCHESgatk44.5.0.0
        GATHERPILEUPSUMMARIES_NORMALgatk44.5.0.0
        GATHERPILEUPSUMMARIES_TUMORgatk44.5.0.0
        GATK4_HAPLOTYPECALLERgatk44.5.0.0
        GETPILEUPSUMMARIES_NORMALgatk44.5.0.0
        GETPILEUPSUMMARIES_TUMORgatk44.5.0.0
        INDEL_ENTROPY_ANNOTATIONnumpy2.4.0
        pysam0.23.3
        python3.13.11
        scipy1.16.3
        LEARNREADORIENTATIONMODELgatk44.5.0.0
        MANTA_GERMLINEmanta1.6.0
        MANTA_SOMATICmanta1.6.0
        MERGEMUTECTSTATSgatk44.5.0.0
        MERGE_HAPLOTYPECALLERgatk44.5.0.0
        MERGE_MUTECT2gatk44.5.0.0
        MERGE_SENTIEON_HAPLOTYPER_VCFSgatk44.5.0.0
        MERGE_STRELKAgatk44.5.0.0
        MERGE_STRELKA_GENOMEgatk44.5.0.0
        MERGE_STRELKA_INDELSgatk44.5.0.0
        MERGE_STRELKA_SNVSgatk44.5.0.0
        MSISENSOR2_MSImsisensor20.1
        MUTECT2_PAIREDgatk44.5.0.0
        SAMTOOLS_MPILEUPsamtools1.21
        SCARHRDscarHRD0.6.2
        SENTIEON_HAPLOTYPERsentieon202308.03
        SENTIEON_TNFILTERsentieon202308.03
        SENTIEON_TNHAPLOTYPER2sentieon202308.03
        SNPEFF_SNPEFFsnpeff5.1d
        STRELKA_SINGLEstrelka2.9.10
        STRELKA_SOMATICstrelka2.9.10
        TABIX_BGZIPTABIXtabix1.2
        TABIX_TABIXtabix1.2
        TABIX_VCF_FOR_ENTROPYtabix1.2
        TIH_HRD_CALLINGhrd_calling0.2.0
        r-base4.3.3
        VCFTOOLS_TSTV_COUNTvcftools0.1.16
        WHATSHAP_MUTECT2whatshap2.8
        WorkflowNextflow25.10.2
        nf-core/sarekv3.5.0-g8a99ba0

        nf-core/sarek Methods Description

        Suggested text and references to use when describing pipeline usage within the methods section of a publication.URL: https://github.com/nf-core/sarek

        Methods

        Data was processed using nf-core/sarek v3.5.0 (doi: 10.12688/f1000research.16665.2), (doi: 10.1093/nargab/lqae031), (doi: 10.5281/zenodo.3476425) of the nf-core collection of workflows (Ewels et al., 2020), utilising reproducible software environments from the Bioconda (Grüning et al., 2018) and Biocontainers (da Veiga Leprevost et al., 2017) projects.

        The pipeline was executed with Nextflow v25.10.2 (Di Tommaso et al., 2017) with the following command:

        nextflow run 'https://gitlab.natera.com/rd-platform/bioinformatics/nextflow/sarek.git' -output-dir 's3://natera-platform-sandbox/platform-infra/stories/PLTFINF-169-semiproductionize/cgp_atx_exp0001/tools_daq_bams__8a99ba01--20260203-171151' -r 8a99ba012b42a28851320415f0be51c2790a8739 -profile docker,eks,std_run --input 's3://natera-platform-sandbox/platform-infra/stories/PLTFINF-169-semiproductionize/cgp_atx_exp0001/samplesheets/samplesheet_cgp_atx_exp0001_tools_recal_bams_from_daq.csv' --outdir 's3://natera-platform-sandbox/platform-infra/stories/PLTFINF-169-semiproductionize/cgp_atx_exp0001/tools_daq_bams__8a99ba01--20260203-171151' -name sarek-tools-daq-8a99ba01

        References

        • Di Tommaso, P., Chatzou, M., Floden, E. W., Barja, P. P., Palumbo, E., & Notredame, C. (2017). Nextflow enables reproducible computational workflows. Nature Biotechnology, 35(4), 316-319. doi: 10.1038/nbt.3820
        • Ewels, P. A., Peltzer, A., Fillinger, S., Patel, H., Alneberg, J., Wilm, A., Garcia, M. U., Di Tommaso, P., & Nahnsen, S. (2020). The nf-core framework for community-curated bioinformatics pipelines. Nature Biotechnology, 38(3), 276-278. doi: 10.1038/s41587-020-0439-x
        • Grüning, B., Dale, R., Sjödin, A., Chapman, B. A., Rowe, J., Tomkins-Tinch, C. H., Valieris, R., Köster, J., & Bioconda Team. (2018). Bioconda: sustainable and comprehensive software distribution for the life sciences. Nature Methods, 15(7), 475–476. doi: 10.1038/s41592-018-0046-7
        • da Veiga Leprevost, F., Grüning, B. A., Alves Aflitos, S., Röst, H. L., Uszkoreit, J., Barsnes, H., Vaudel, M., Moreno, P., Gatto, L., Weber, J., Bai, M., Jimenez, R. C., Sachsenberg, T., Pfeuffer, J., Vera Alvarez, R., Griss, J., Nesvizhskii, A. I., & Perez-Riverol, Y. (2017). BioContainers: an open-source and community-driven framework for software standardization. Bioinformatics (Oxford, England), 33(16), 2580–2582. doi: 10.1093/bioinformatics/btx192
        Notes:
        • The command above does not include parameters contained in any configs or profiles that may have been used. Ensure the config file is also uploaded with your publication!
        • You should also cite all software used within this run. Check the "Software Versions" of this report to get version information.

        nf-core/sarek Workflow Summary

        - this information is collected when the pipeline is started.URL: https://github.com/nf-core/sarek

        Input/output options

        input
        s3://natera-platform-sandbox/platform-infra/stories/PLTFINF-169-semiproductionize/cgp_atx_exp0001/samplesheets/samplesheet_cgp_atx_exp0001_tools_recal_bams_from_daq.csv
        outdir
        s3://natera-platform-sandbox/platform-infra/stories/PLTFINF-169-semiproductionize/cgp_atx_exp0001/tools_daq_bams__8a99ba01--20260203-171151
        step
        variant_calling

        Main options

        intervals
        s3://natera-platform-sandbox/pipeline-resources/beds/altera_subpanels/hg38/xgen-exome-hyb-panel-v2-targets-hg38_AND_altera_v3_targets_postQC_hg38.bed
        nucleotides_per_second
        15000
        tools
        sentieon_dedup,ngscheckmate,contamination,mutect2,tnseq,strelka,manta,msisensor2,ascat,cnvkit,facets,tmb,hrd,whatshap,snpeff,merge,sentieon_haplotyper,haplotypecaller,chip_detection,indelentropy
        wes
        true

        FASTQ Preprocessing

        save_trimmed
        true
        trim_fastq
        true

        Preprocessing

        aligner
        sentieon-bwamem
        save_output_as_bam
        true

        Variant Calling

        cf_chrom_len
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Sequence/Length/Homo_sapiens_assembly38.len
        chip_pon
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/CHIP_PON/pon.hotspot_protected.raw.vcf.gz
        chip_pon_tbi
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/CHIP_PON/pon.hotspot_protected.raw.vcf.gz.tbi
        pon
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/PON/aih_blood_normal_36_pon.vcf.gz
        pon_tbi
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/PON/aih_blood_normal_36_pon.vcf.gz.tbi

        General reference genome options

        hlala_graph
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/HLA_LA/PRG_MHC_GRCh38_withIMGT_indexed/
        igenomes_base
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes/
        optitype_reference
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/optitype/original_v3.15_2014/
        xhla_chr6_bwa
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/xHLA/Sequence/BWAIndex/
        xhla_chr6_fai
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/xHLA/Sequence/chr6/hg38.chr6.fasta.fai
        xhla_chr6_fasta
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/xHLA/Sequence/chr6/hg38.chr6.fasta
        yara
        s3://natera-platform-sandbox/pipeline-resources/AIH/hla_typing/hla_index/

        Reference genome options

        ascat_alleles
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/ASCAT/G1000_alleles_hg38.zip
        ascat_genome
        hg38
        ascat_loci
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/ASCAT/G1000_loci_hg38.zip
        ascat_loci_gc
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/ASCAT/GC_G1000_hg38.zip
        ascat_loci_rt
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/ASCAT/RT_G1000_hg38.zip
        blacklist_bed
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/CustomBEDs/blacklist_grch38.bed.gz
        blacklist_bed_tbi
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/CustomBEDs/blacklist_grch38.bed.gz.tbi
        blacklist_header
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/CustomBEDs/blacklist_header.txt
        bwa
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Sequence/BWAIndex/
        bwamem2
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Sequence/BWAmem2Index/
        chr_dir
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Sequence/Chromosomes
        conpair_markers
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/Conpair/GRCh38.autosomes.phase3_shapeit2_mvncall_integrated.20130502.SNV.genotype.sselect_v4_MAF_0.4_LD_0.8.liftover.bed
        container_registry_seqera
        292967571998.dkr.ecr.us-west-2.amazonaws.com/community.wave.seqera.io
        contam_bed
        s3://natera-platform-sandbox/platform-users/ralla/nfcore_rnafusion_resources/GRCh38/gatk4/dbsnp_hg38_contam_sites.bed
        dbsnp
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/GATKBundle/dbsnp_146.hg38.vcf.gz
        dbsnp_tbi
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/GATKBundle/dbsnp_146.hg38.vcf.gz.tbi
        dbsnp_vqsr
        --resource:dbsnp,known=false,training=true,truth=false,prior=2.0 dbsnp_146.hg38.vcf.gz
        dict
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Sequence/WholeGenomeFasta/Homo_sapiens_assembly38.dict
        dragmap
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Sequence/dragmap/
        exome_bed
        s3://natera-platform-sandbox/pipeline-resources/beds/altera_subpanels/hg38/xgen-exome-hyb-panel-v2-targets-hg38_short.mrg.bed
        fasta
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Sequence/WholeGenomeFasta/Homo_sapiens_assembly38.fasta
        fasta_fai
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Sequence/WholeGenomeFasta/Homo_sapiens_assembly38.fasta.fai
        genome_annotations
        s3://natera-platform-sandbox/pipeline-resources/ensembl/Homo_sapiens.GRCh38.110.gtf.gz
        germline_resource
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/GATKBundle/af-only-gnomad.hg38.vcf.gz
        germline_resource_tbi
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/GATKBundle/af-only-gnomad.hg38.vcf.gz.tbi
        known_indels
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/GATKBundle/{Mills_and_1000G_gold_standard.indels.hg38,beta/Homo_sapiens_assembly38.known_indels}.vcf.gz
        known_indels_tbi
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/GATKBundle/{Mills_and_1000G_gold_standard.indels.hg38,beta/Homo_sapiens_assembly38.known_indels}.vcf.gz.tbi
        known_indels_vqsr
        --resource:gatk,known=false,training=true,truth=true,prior=10.0 Homo_sapiens_assembly38.known_indels.vcf.gz --resource:mills,known=false,training=true,truth=true,prior=10.0 Mills_and_1000G_gold_standard.indels.hg38.vcf.gz
        known_snps
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/GATKBundle/1000G_omni2.5.hg38.vcf.gz
        known_snps_tbi
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/GATKBundle/1000G_omni2.5.hg38.vcf.gz.tbi
        known_snps_vqsr
        --resource:1000G,known=false,training=true,truth=true,prior=10.0 1000G_omni2.5.hg38.vcf.gz
        lowdepth_bed
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/CustomBEDs/low_depth_grch38.tsv.gz
        lowdepth_bed_tbi
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/CustomBEDs/low_depth_grch38.tsv.gz.tbi
        lowdepth_header
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/CustomBEDs/low_depth_header.txt
        mappability
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/Control-FREEC/out100m2_hg38.gem
        ngscheckmate_bed
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/NGSCheckMate/SNP_GRCh38_hg38_wChr.bed
        ngscheckmate_fastq_pt
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/NGSCheckMate/SNP_GRCh38_hg38_wChr.pt
        probe_bed
        s3://natera-platform-sandbox/pipeline-resources/beds/altera_subpanels/hg38/xgen-exome-hyb-panel-v2_AND_altera_v3_probes_short_hg38_AND_cdx_spike_custom30off4x_hg38.bed
        repeatmasker_bed
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/CustomBEDs/repeatmasker_grch38.bed.gz
        repeatmasker_bed_tbi
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/CustomBEDs/repeatmasker_grch38.bed.gz.tbi
        repeatmasker_header
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/CustomBEDs/repeatmasker_header.txt
        sentieon_dnascope_model
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/igenomes//Homo_sapiens/GATK/GRCh38/Annotation/Sentieon/SentieonDNAscopeModel1.1.model
        seqtool_dbsnp
        s3://natera-platform-sandbox/pipeline-resources/Homo_sapiens_assembly38.dbsnp138.vcf.gz
        seqtool_dbsnp_index
        s3://natera-platform-sandbox/pipeline-resources/Homo_sapiens_assembly38.dbsnp138.vcf.gz.tbi
        snpeff_cache
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/annotation-cache/snpeff_cache/
        snpeff_db
        GRCh38.105
        target_beds
        s3://natera-platform-sandbox/pipeline-resources/beds/altera_subpanels/hg38/xgen-exome-hyb-panel-v2-targets-hg38_AND_altera_v3_targets_postQC_hg38.bed,s3://natera-platform-sandbox/pipeline-resources/beds/altera_subpanels/hg38/xgen-exome-hyb-panel-v2-targets-hg38_short.mrg.bed,s3://natera-platform-sandbox/pipeline-resources/beds/altera_subpanels/hg38/altera_v3_targets_postQC_hg38.bed,s3://natera-platform-sandbox/pipeline-resources/beds/altera_subpanels/hg38/altera_v3_targets_coding_postQC_hg38.bed,s3://natera-platform-sandbox/pipeline-resources/beds/altera_subpanels/hg38/altera_v3_targets_noncoding_postQC_hg38.bed,s3://natera-platform-sandbox/pipeline-resources/beds/altera_subpanels/hg38/xgen-exome-hyb-panel-v2-targets-hg38_minus_altera_v3_targets_postQC_hg38.bed,s3://natera-platform-sandbox/pipeline-resources/beds/altera_subpanels/hg38/xgen-exome-hyb-panel-v2_AND_altera_v3_probes_short_hg38_AND_cdx_spike_custom30off4x_hg38_footprint.bed,s3://natera-platform-sandbox/pipeline-resources/beds/altera_subpanels/hg38/xgen-exome-hyb-panel-v2_AND_altera_v3_probes_short_hg38_AND_cdx_spike_custom30off4x_hg38.bed,s3://natera-platform-sandbox/pipeline-resources/beds/altera_subpanels/hg38/FINAL_hotspot_list_07302025_hg38_sorted.bed
        vep_cache
        s3://natera-platform-sandbox/pipeline-resources/ngi-igenomes/annotation-cache/vep_cache/
        vep_cache_version
        113
        vep_genome
        GRCh38
        vep_species
        homo_sapiens

        Institutional config options

        modules_testdata_base_path
        s3://natera-platform-sandbox/pipeline-inputs/test_sarek/

        Generic options

        task_job_queue
        Nextflow-OnDemand

        Core Nextflow options

        configFiles
        N/A
        containerEngine
        docker
        launchDir
        /code
        profile
        docker,eks,std_run
        projectDir
        /tmp/home/.nextflow/assets/rd-platform/bioinformatics/nextflow/sarek
        runName
        sarek-tools-daq-8a99ba01
        userName
        nextflow
        workDir
        /natera-rnd-pltf-dev-nextflow-scratch-01/work