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konradjk / loftee

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What is OS in LoF field? #85

Closed yangyxt closed 3 years ago

yangyxt commented 3 years ago

I'm using vep 104, with cache 104.

The LoF field contains a value named "OS" and I don't know what that stands for.

Here is the screenshot: image

konradjk commented 3 years ago

These are "Other Splice" variants - it's a prediction of potential splice disrupting that's outside of the canonical splice site. Not as impactful on average as HC, but probably moreso than LC.