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

[Wei Zhao]

Thank you, Konrad!

I listed the annotation for the three variant-transcript pairs below:

var273214       1:245133629     G       ENSG00000203666 ENST00000366523
Transcript      splice_acceptor_variant -       -       -       -
-       -
LoF=LC;LoF_flags=;IMPACT=HIGH;LoF_filter=5UTR_SPLICE;LoF_info=INTRON_SIZE:285;STRAND=1
var78183        8:130789839     C       ENSG00000147697 ENST00000276708
Transcript      splice_acceptor_variant -       -       -       -
-       -
LoF_filter=3UTR_SPLICE;IMPACT=HIGH;LoF_flags=;LoF=LC;LoF_info=INTRON_SIZE:8419;STRAND=-1
var113394       5:177474136     C       ENSG00000204677 ENST00000511189
Transcript      splice_donor_variant    -       -       -       -
-       -
LoF_info=INTRON_SIZE:1531;LoF_filter=3UTR_SPLICE;LoF_flags=;LoF=LC;IMPACT=HIGH;STRAND=1
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