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incorrect SO assignment - "exon_loss_variant" for intronic region #227

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EugeneEA opened this issue Mar 21, 2024 · 1 comment
Open

incorrect SO assignment - "exon_loss_variant" for intronic region #227

EugeneEA opened this issue Mar 21, 2024 · 1 comment

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@EugeneEA
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Hi, I'm annotating the following variant:

chr15 57989910 CAAAAATGACAGGACGGAGCTTGCAGTGAGCCGAGATTGCGTCACTGCAGTCCGCAGTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAA C

and I'm getting the following results, which says it has a exon loss effect:

image

Even though it seems to be fully intronic. I also have checked other transcript at that site but seems non of them have an exon in that range

image

Best, Eugene
@RachelKarchin
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Sorry for slow response. We are looking into this issue and it is in our queue.

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@RachelKarchin @EugeneEA