Reported Pathogenic Indels larger than 20 bp.

Table 3: Reported Pathogenic Indels larger than 20 bp.

Family No.	Clinical Diagnosis	Gene	Mutation detected	Size of indel	Zygosity	Reads	Q score
1	Angelman Syndrome	UBE3A	c.1254_1324del89	89 bp	het	4/36	105
2	Arthrogryposis	MYH3	c.5605_5659-47del115	115 bp	het	17/69	719
3	Immunodeficiency	RFXANK	c.419_438+38del58	58 bp	het	8/32	296
4	Retinitis Pigmentosa	PDE6B	c.1923_1969ins6del47	41 bp	homo	5/5*	17
5	Apert Syndrome	FGFR2	c.940-165_978del204	204 bp	het	37/109	1700
6	Rubinstein-Taybi Syndrome	EP300	c.1575_1622+121del169	169 bp	het	29/134	1238
7	Adrenal Insufficiency & Morbid Obesity	POMC	c.20_21ins25	25 bp	homo	109/112	120
8	Epilepsy, Autism, Intellectual Disability	MECP2	c.1164_1207del44	44 bp	het^#	19/45	889

*Alteration covered at 5X in the proband but > 10X in carrier parents
^# Identical alteration reported in two unrelated female probands with overlapping clinical features