294 kb insertion within the coding sequence of CCM2

[pnrobinson]

https://pubmed.ncbi.nlm.nih.gov/32286434/

How would we annotate this in HCA?

[pnrobinson]

also https://pubmed.ncbi.nlm.nih.gov/30559482/

[ielis]

In general, we cannot annotate this as a simple intrachromosomal event, we need to represent this as a set of breakend variants that have the same EVENTID. HCA does not support this at the moment.

I think it would be really cool to be able to first write these events down and then prioritize them. However, I do not think the current variant callers can call this, right? Therefore, we would never get such a variant as input in the first place.

So I'm not sure we should focus too hard on this type of variants right now, given our time plan.