<html><head><style>body{font-family:Helvetica,Arial;font-size:13px}</style></head><body style="word-wrap:break-word"><div id="bloop_customfont" style="font-family:Helvetica,Arial;font-size:13px;color:rgba(0,0,0,1.0);margin:0px;line-height:auto">Hi Will,</div><div id="bloop_customfont" style="font-family:Helvetica,Arial;font-size:13px;color:rgba(0,0,0,1.0);margin:0px;line-height:auto"><br></div><div id="bloop_customfont" style="font-family:Helvetica,Arial;font-size:13px;color:rgba(0,0,0,1.0);margin:0px;line-height:auto">Great, thanks! Do you mind patching 81 as well? Would like to do some comparisons in ExAC.</div><div id="bloop_customfont" style="font-family:Helvetica,Arial;font-size:13px;color:rgba(0,0,0,1.0);margin:0px;line-height:auto"><br></div> Thanks!<br> <div id="bloop_sign_1470244355231330816" class="bloop_sign"><div style="font-family:helvetica,arial;font-size:13px">-Konrad</div></div> <br><p class="airmail_on">On August 3, 2016 at 6:03:09 AM, Will McLaren (<a href="mailto:wm2@ebi.ac.uk">wm2@ebi.ac.uk</a>) wrote:</p> <blockquote type="cite" class="clean_bq"><span><div><div></div><div>
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<div dir="ltr">Thanks Konrad, this should be fixed on 85 now. I can
patch previous releases too if you're using an older one?
<div><br></div>
<div>AGG->AG and AGG->A both resolve to a deletion, and
internally things were being keyed on the resolved ALT, which in
both cases was "-" even though they were deleting different
things...<br>
<div><br></div>
<div>Will</div>
</div>
</div>
<div class="gmail_extra"><br>
<div class="gmail_quote">On 3 August 2016 at 06:15, Konrad
Karczewski <span dir="ltr"><<a href="mailto:konradk@broadinstitute.org" target="_blank">konradk@broadinstitute.org</a>></span> wrote:<br>
<blockquote class="gmail_quote" style="margin:0 0 0 .8ex;border-left:1px #ccc solid;padding-left:1ex">
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<div style="font-family:Helvetica,Arial;font-size:13px;color:rgba(0,0,0,1.0);margin:0px;line-height:auto">
Hi Will, Ensembl folk,</div>
<div style="font-family:Helvetica,Arial;font-size:13px;color:rgba(0,0,0,1.0);margin:0px;line-height:auto">
<br></div>
<div style="font-family:Helvetica,Arial;font-size:13px;color:rgba(0,0,0,1.0);margin:0px;line-height:auto">
When annotating ExAC (yet again...), I found another issue with
multi-allelics. The following variant:</div>
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<br></div>
<div style="font-family:Helvetica,Arial;font-size:13px;color:rgba(0,0,0,1.0);margin:0px;line-height:auto">
20 31022441 . AGG AGGG,AG,TGG,A</div>
<div style="font-family:Helvetica,Arial;font-size:13px;color:rgba(0,0,0,1.0);margin:0px;line-height:auto">
<br></div>
<div style="font-family:Helvetica,Arial;font-size:13px;color:rgba(0,0,0,1.0);margin:0px;line-height:auto">
only gets 3 alleles annotated (15 total annotations, with 5
overlapping transcripts), and the final allele (AGG->A) appears
to not get annotated.</div>
<div><br></div>
Seems to persist all the way up to v85. Any ideas why this might be
the case?
<div><br></div>
<div>Thanks!<span class="HOEnZb"><font color="#888888"><br></font></span>
<div>
<div style="font-family:helvetica,arial;font-size:13px">
<span class="HOEnZb"><font color="#888888">-Konrad</font></span></div>
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<br>
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