. Author manuscript; available in PMC: 2014 May 1.

Published in final edited form as: Nat Genet. 2013 Sep 22;45(11):1319–1326. doi: 10.1038/ng.2768

Table 2. De novo single-nucleotide variants observed flanking genomic rearrangement breakpoint junctions.

Patient BAB#	Type	Distance from junction	Context	Original copy tested?
2626/2628	C>T	19 bp	Poly T run	Yes
	C>T	9 bp	Poly T run	Yes
3027	Del A	8–10 bp	Poly A run	Yes
3154	Del G	1–3 bp	Poly G run	Yes
3273	Del T	40–42 bp	Poly T run	Yes