megSAP
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Check EGFR variant not getting called
- [x] try calling with Varscan -> only calls the insertion but not the deletion....
- [x] dragen + evidence BAM -> not conclusive, only part of the region covered in evidence BAM. Seems to suggest that the reads can be realigned so that this variant "isn't needed".
- [x] remap with dragen and bwa without indel realignment? -> reads are mapped differently with two DELs (13b and 2b) and a SNV (T>G)
- [x] check position with Sanger sequencing to verfy variant? (aksed Sorin) -> variant known in literature as real and "not callable" in the Patho they call it by hand...
- [x] test with freebase mosaic calling (vc_mosaic.php) -> was called with vc_mosaic !
- [ ] test mosaic calling on all tumor exomes
- [ ] check missed tumor variants vs. artifacts/germline