Study participants.

Participants within families share numeric IDs. Age of diagnosis is given unless unavailable, where age at first surgery* is given instead. Cholesteatoma in both ears is described as bilateral disease (Y = yes) while disease in one ear is described as not bilateral disease (N = no). Familial relationships are described with respect to the index case. Sequencing data and VCFs were uploaded for each participant to the EGA data repository (EGAD00001008671; EGAS00001006147).