Author information: (1)Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia. (2)UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia. (3)Broad Institute of MIT and Harvard, Cambridge, MA, USA. (4)Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia. (5)ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia. (6)Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia. (7)Division of Genetics and Genomics, Boston Childrens Hospital, Boston, MA, USA. (8)Victorian Clinical Genetics Services, Murdoch Children's Research Institute and Royal Women's Hospital, Melbourne, Victoria, Australia. (9)Centre for Clinical Genetics, Sydney Children's Hospitals Network - Randwick, Sydney, New South Wales, Australia. (10)School of Women's and Children's Health, University of NSW, Sydney, New South Wales, Australia. (11)Genetic Services of Western Australia, Perth, Western Australia, Australia. (12)School of Paediatrics and Child Health, University of Western Australia, Perth, Western Australia, Australia. (13)Department of Anatomical Pathology, SA Pathology, Women's and Children's Hospital, North Adelaide, South Australia, Australia. (14)Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia, Australia. (15)Repromed, Dulwich, South Australia, Australia. (16)School of Biological Sciences, University of Adelaide, Adelaide, South Australia, Australia. (17)Australian Genomics, Parkville, Victoria, Australia. (18)Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia. christopher.barnett@sa.gov.au. (19)Paediatric and Reproductive Genetics Unit, South Australian Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, South Australia, Australia. christopher.barnett@sa.gov.au. (20)Department of Genetics and Molecular Pathology, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au. (21)UniSA Clinical and Health Sciences, University of South Australia, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au. (22)Adelaide Medical School, University of Adelaide, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au. (23)ACRF Genomics Facility, Centre for Cancer Biology, an alliance between SA Pathology and the University of South Australia, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au. (24)Department of Genetics and Molecular Pathology, SA Pathology, Adelaide, South Australia, Australia. hamish.scott@sa.gov.au. (25)Australian Genomics, Parkville, Victoria, Australia. hamish.scott@sa.gov.au. (#)Contributed equally