[ensembl-dev] Different LOFTEE Annotations by Standalone and ExAc

Wei Zhao mikezhaow at gmail.com
Sun Mar 13 22:14:08 GMT 2016

Dear Konrad,

I have some variant-transcript pairs and the LOFTEE annotations I got by
running it locally and checking ExAc website are different: ExAc reported
"high-confidence" while I got "LC".  It seems to me that all of these
variants are related to splicing and I listed three examples below.  Could
you please kindly take a look?  Hope I didn't miss anything obvious.  I was
running VEPv83 and downloaded LOFTEE on March 9th.

Thank you for you help.


1:2451336129_A/G, ENST00000366523
5:177474136_T/C, ENST00000511189
8:130789839_T/C, ENST00000276708
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