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    <div class="moz-cite-prefix">Hello Will,<br>
      <br>
      I'm getting more 3000 lines of file output.. this seems really
      weird....<br>
      <br>
      <pre>wc -l variant_effect_output.txt</pre>
      <b>3936</b><br>
      <br>
      Here's the way I'm proceeding:<br>
      <br>
      <pre>./variant_effect_predictor.pl -i /home/likewise-open/SGNET/gmarco/vep_71_annotation_check/input.vcf -force -fork 4 --database --config vep_71.test</pre>
      <br>
      Here's the content of vep_71.test:<br>
      <br>
      dir                /home/likewise-open/SGNET/gmarco/.vep<br>
      toplevel_dir       /home/likewise-open/SGNET/gmarco/.vep<br>
      force_overwrite    1<br>
      format             vcf<br>
      html               1<br>
      host               192.19.x.xx<br>
      port               3306<br>
      user               myuser<br>
      password           mypassword<br>
      buffer_size        5000<br>
      hgvs               1<br>
      canonical          1<br>
      ccds               1<br>
      check_svs          1<br>
      domains            1<br>
      gmaf               1<br>
      hgnc               1<br>
      maf_1kg            1<br>
      numbers            1<br>
      polyphen           b<br>
      regulatory         1<br>
      sift               b<br>
      <br>
      Best regards,<br>
      Guillermo.<br>
      <br>
      On 05/21/2013 02:30 PM, Will McLaren wrote:<br>
    </div>
    <blockquote
cite="mid:CAMVEDX1uqoMqwE=kZU=VH8iU8fRfyN3Y=32TB4AqcPeGJyjApA@mail.gmail.com"
      type="cite">
      <div dir="ltr">Hi Guillermo,
        <div><br>
          I'm unable to recreate this, sorry!</div>
        <div><br>
        </div>
        <div style="">I get 406 going in, 406 coming out every time,
          whichever combination of those options above I use, and
          whether I use VCF or standard output.</div>
        <div style=""><br>
        </div>
        <div style="">Here's my run (minus -check_sv):</div>
        <div style=""><br>
        </div>
        <div style="">
          <div>> perl <a moz-do-not-send="true"
              href="http://variant_effect_predictor.pl">variant_effect_predictor.pl</a>
            -i guill.vcf -vcf -cache -force -fork 4 -hgvs -canon -ccds
            -domains -gmaf -hgnc -maf_1kg -numbers -poly b -regu -sift b
            -fasta
            ~/NFS/Fasta/Homo_sapiens.GRCh37.69.dna.primary_assembly.fa</div>
          <div>2013-05-21 13:24:26 - Checking/creating FASTA index</div>
          <div>2013-05-21 13:24:26 - Read existing cache info</div>
          <div>2013-05-21 13:24:26 - Starting...</div>
          <div>2013-05-21 13:24:26 - Detected format of input file as
            vcf</div>
          <div>2013-05-21 13:24:26 - Read 406 variants into buffer</div>
          <div>2013-05-21 13:24:26 - Reading transcript data from cache
            and/or database</div>
          <div>[================================================================]
             [ 100% ]</div>
          <div>2013-05-21 13:24:30 - Retrieved 10891 transcripts (0 mem,
            10919 cached, 0 DB, 28 duplicates)</div>
          <div>2013-05-21 13:24:30 - Reading regulatory data from cache
            and/or database</div>
          <div>[================================================================]
             [ 100% ]</div>
          <div>2013-05-21 13:24:35 - Retrieved 36955 regulatory features
            (0 mem, 36955 cached, 0 DB, 0 duplicates)</div>
          <div>2013-05-21 13:24:35 - Calculating consequences</div>
          <div>[================================================================]
             [ 100% ]</div>
          <div>2013-05-21 13:24:56 - Writing output2013-05-21 13:24:56 -
            Processed 406 total variants (14 vars/sec, 14 vars/sec
            total)</div>
          <div>2013-05-21 13:24:56 - Wrote stats summary to
            variant_effect_output.txt_summary.html</div>
          <div>2013-05-21 13:24:56 - Finished!</div>
          <div style="">> wc -l variant_effect_output.txt</div>
          <div style="">408</div>
          <div style=""><br>
          </div>
          <div style="">It's 408 as it's adding two header lines to the
            VCF output.</div>
          <div style="">
            <br>
          </div>
          <div style="">Which 16 are missing from your output, and is it
            the same 16 each time?</div>
          <div style=""><br>
          </div>
          <div style="">Try writing to a different output file, or on a
            different disk if you can (perhaps disk space is an issue?)</div>
          <div style=""><br>
          </div>
          <div style="">Will</div>
        </div>
      </div>
      <div class="gmail_extra"><br>
        <br>
        <div class="gmail_quote">On 21 May 2013 13:15, Guillermo Marco
          Puche <span dir="ltr"><<a moz-do-not-send="true"
              href="mailto:guillermo.marco@sistemasgenomicos.com"
              target="_blank">guillermo.marco@sistemasgenomicos.com</a>></span>
          wrote:<br>
          <blockquote class="gmail_quote" style="margin:0 0 0
            .8ex;border-left:1px #ccc solid;padding-left:1ex">
            <div bgcolor="#FFFFFF" text="#000066">
              <div>Hello Will,<br>
                <br>
                Here's the input: <a moz-do-not-send="true"
href="https://github.com/guillermomarco/vep_plugins_71/blob/master/missing_variants/missing_output_variants.vcf"
                  target="_blank">https://github.com/guillermomarco/vep_plugins_71/blob/master/missing_variants/missing_output_variants.vcf</a><br>
                <br>
                As you said it's not about the options or plugins.
                Launching VEP without specyfiying any option still
                returns an output with missing variants.<br>
                <br>
                Regards,<br>
                Guillermo.
                <div>
                  <div class="h5"><br>
                    <br>
                    <br>
                    On 05/21/2013 01:49 PM, Will McLaren wrote:<br>
                  </div>
                </div>
              </div>
              <div>
                <div class="h5">
                  <blockquote type="cite">
                    <div dir="ltr">Hi Guillermo,
                      <div><br>
                      </div>
                      <div>None of those options should filter out
                        variants.</div>
                      <div><br>
                      </div>
                      <div>Are you able to provide any of the files that
                        recreate the problem?</div>
                      <div> <br>
                      </div>
                      <div>Is there any chance that you are using VCF
                        input and it contains non-variant lines - this
                        would be where the ALT column is empty or "."?
                        If so, this may be your problem. To force these
                        to be included in the output, you should add
                        --allow_non_variant.</div>
                      <div><br>
                      </div>
                      <div>Regards</div>
                      <div><br>
                      </div>
                      <div>Will</div>
                    </div>
                    <div class="gmail_extra"><br>
                      <br>
                      <div class="gmail_quote">On 21 May 2013 09:40,
                        Guillermo Marco Puche <span dir="ltr"><<a
                            moz-do-not-send="true"
                            href="mailto:guillermo.marco@sistemasgenomicos.com"
                            target="_blank">guillermo.marco@sistemasgenomicos.com</a>></span>
                        wrote:<br>
                        <blockquote class="gmail_quote" style="margin:0
                          0 0 .8ex;border-left:1px #ccc
                          solid;padding-left:1ex">
                          <div bgcolor="#FFFFFF" text="#000066"> Hello,<br>
                            <br>
                            I've been checking VEP results, and i've
                            noticed that I'm missing some input variants
                            in the output.<br>
                            <br>
                            I think this may be issued to some of the
                            options i'm using to launch vep:<br>
                            <br>
                            <small><small>hgvs               1<br>
                                canonical          1<br>
                                ccds               1<br>
                                check_svs          1<br>
                                domains            1<br>
                                gmaf               1<br>
                                hgnc               1<br>
                                maf_1kg            1<br>
                                numbers            1<br>
                                polyphen           b<br>
                                regulatory         1<br>
                                sift               b</small></small><br>
                            <br>
                            Should be any of these options filtering
                            output? I've disabled all plugins to run
                            this test to be sure that it's not a plugin
                            issue.<br>
                            <br>
                            <ul>
                              <li>With a 406 variant input vcf file,
                                I've missed 16 variants. <br>
                              </li>
                              <li>I then ran VEP with only those 16
                                missing variants and missed 3 on output.
                                <br>
                              </li>
                              <li>Rerun again and now with 3 missing
                                variants and now not a single one was
                                missing.</li>
                            </ul>
                            <p>I would like to know what's behind that
                              weird behaviour.<br>
                            </p>
                            <p>Thank you.<br>
                            </p>
                            <p>Best regards,<br>
                              Guillermo.<br>
                            </p>
                            <br>
                            <br>
                          </div>
                          <br>
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