.. _rstoutputformats: ============== Output formats ============== SvAnna supports storing results in 4 output formats: *HTML*, *VCF* *CSV*, and *TSV*. Use the ``--output-format`` option to select one or more of the desired output formats (e.g. ``--output-format html,vcf``). HTML output format ^^^^^^^^^^^^^^^^^^ SvAnna creates an *HTML* file with the analysis summary and with variants sorted by the :math:`PSV` score in descending order. By default, top 100 variants are included into the report. The number of the reported variants can be adjusted by the ``--report-top-variants`` option. The report consists of several parts: * *Analysis summary* - Details of HPO terms of the proband, paths of the input files, and the analysis parameters. * *Variant counts* - Breakdown of the number of the variant types of the different categories. * *Prioritized SVs* - Visualizations of the prioritized variants. .. TODO - write more about the HTML report .. note:: Only the variants that passed all the filters are visualized in the *Prioritized SVs* section. The ``--no-breakends`` option excludes breakends/translocations from the report. VCF output format ^^^^^^^^^^^^^^^^^ When including ``vcf`` into the ``--output-format`` option, a VCF file with all input variants is created. The prioritization adds a novel *INFO* field to each variant: * ``PSV`` - an *INFO* field containing :math:`PSV` score for the variant. .. note:: * ``--report-top-variants`` option has no effect for the *VCF* output format. * Add ``--uncompressed-output`` flag if you want to get uncompressed VCF file. CSV/TSV output format ^^^^^^^^^^^^^^^^^^^^^ To write the prioritization results into a *CSV* (or *TSV*) file, use ``csv`` (``tsv``) in the ``--output-format`` option. The results are written into a tabular file with the following columns: * *contig* - name of the contig/chromosome (e.g. ``1``, ``2``, ``X``). * *start* - 0-based start coordinate (excluded) of the variant on positive strand. * *end* - 0-based end coordinate (included) of the variant on positive strand. * *id* - variant ID as it was present in the input VCF file. * *vtype* - variant type, one of ``{DEL, DUP, INV, INS, BND, CNV}``. * *failed_filters* - the names of filters that the variant failed to pass. The names are separated by semicolon (``;``) * ``filter`` - the variant failed previous VCF filters - at least one filter flag is present in the variant VCF line, except for ``PASS``. * ``coverage`` - the variant is supported by less reads than specified by ``--min-read-support`` option. * *psv* - the :math:`PSV` score value. .. table:: Tabular output ======== ========= ========== ====== ======= ================= ===================== contig start end id vtype failed_filters psv ======== ========= ========== ====== ======= ================= ===================== 11 31130456 31671718 abcd DEL 109.75766900764305 18 46962113 46969912 efgh DUP filter;coverage 3.2 ... ... ... ... ... ... ... ======== ========= ========== ====== ======= ================= ===================== .. note:: * ``--report-top-variants`` option has no effect for the *CSV* and *TSV* output formats. * Add ``--uncompressed-output`` flag if you want to get uncompressed VCF file.