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StructuralVariantOverlap skips all INV matches when same_type=1 used
#710
opened Mar 20, 2024 by
davmlaw
AlphaMissense has "benign" in GRCh37 data files and "likely_benign" in GRCh38
#668
opened Dec 1, 2023 by
davmlaw
Downstream plugin inconsistently reports a leading wild type (unmutated) amino acid
bug
#342
opened Aug 5, 2020 by
susannasiebert
ProTip!
What’s not been updated in a month: updated:<2024-10-18.