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Position: chr16:74462611
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Structural Variants
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hg38
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Dna
Conservation Scores
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Transcripts
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UniProt Protein Regions
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Pathogenicity
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VUS
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Frequencies
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Variants
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With VarSome Pro you can upload a VCF file containing simple or multiple samples for variant annotation and classification. Subsequently, you can use a sophisticated set of features for browsing and filtering your data.
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13.1.2 Release Note
VarSome & VarSome Clinical v.13.1.2
Version 13.1.2 of VarSome and VarSome Clinical was released on 15 March 2025 to address minor performance issues:
Users can now modify phenotypic data, including adding phenotypic data to finished analyses
Fix of potential failures of multi-sample analyses using existing analyses
"Sample metrics" column display has been updated
"CNV Gene Lists" can now be launched from the "Action Menu"
Refinements were also made to the somatic classifier to address an issue with how Jax CKB determines variant effect that was leading to some variants being incorrectly reported as relevant. We have implemented an overrule to the "Protein Effect" information coming from Jax CKB, whereby if the germline classifier indicates that a variant is Benign or Likely Benign "Protein Effect" data from Jax CKB will not be considered. We have also upgraded Levels Dx2, Dx3, Px2, and Px3 coming from OncoKB to be accounted for as Tier I evidence.