Table 2.

Top 5 Significant Results p < 5E-4 Per Disease Category

Disease	chr	Start (Mb/hg19)	Stop (Mb/hg19)	p	OR	cases	controls	Telo/Centro	cases male	controls male
cancer	9	44	45	1.47E-39	0.065	10	251	No	4	117
cancer	9	45	46	1.81E-37	0.065	10	241	No	4	110
cancer	9	46	47	1.38E-31	0.065	10	212	No	4	97
cancer	9	43	44	1.24E-27	0.066	7	177	No	4	83
cancer	1	8	10	5.40E-24	8.701	89	19	No	65	15
autoimmune	16	1	3	5.29E-14	6.130	37	46	telomere	22	21
healthy	9	44	45	1.62E-13	3.038	73	188	No	28	93
neurodegenerative	20	41	42	1.11E-12	12.040	18	42	No	10	31
healthy	9	40	42	1.61E-12	8.797	26	22	No	14	15
neurodegenerative	20	42	45	1.45E-11	11.030	17	43	No	10	33
healthy	9	45	47	2.10E-11	2.986	62	160	No	24	78
autoimmune	19	1	3	3.77E-11	3.822	44	88	telomere	25	52
healthy	9	43	44	7.52E-11	8.797	54	130	No	20	67
healthy	15	21	23	8.05E-11	7.137	25	26	No	8	9
neurodegenerative	20	48	51	2.78E-10	12.400	14	31	No	8	21
other	9	44	46	7.82E-10	2.316	93	158	No	46	68
autoimmune	16	0	1	8.68E-10	5.724	26	34	telomere	18	16
congenital heart	22	22	23	1.11E-09	45.810	8	6	No	6	4
neurodegenerative	20	45	47	1.79E-09	10.370	14	37	No	9	29
neurodegenerative	20	31	32	4.90E-09	12.520	12	26	No	8	21
autoimmune	17	79	81	9.94E-09	7.415	19	19	telomere	9	4
congenital heart	22	20	22	2.36E-08	39.780	7	6	No	5	3
other	9	43	44	2.67E-07	2.270	68	116	No	36	51
other	9	46	47	3.99E-07	2.316	78	144	No	37	64
autoimmune	11	109	110	4.26E-07	0.000	0	113	No	72	1
congenital heart	22	19	20	8.43E-07	28.990	6	7	No	4	3
other	7	48	50	8.21E-06	7.534	14	7	No	10	5
adhd	14	107	107	1.48E-05	45.240	4	4	No	2	2
other	7	38	39	1.83E-05	6.590	14	8	No	11	5
adhd	14	106	107	2.57E-05	16.430	4	11	telomere	2	6
autism	6	20	21	3.14E-05	30.390	3	7	No	2	3
autism	6	24	26	4.27E-05	26.580	3	8	No	2	4
cancer	7	150	159	4.59E-05	4.586	18	7	telomere	10	5

Broad disease category association study of detected and curated mosaic CNV events to implicate genomic loci for disease phenotypes. The “other” disease category represents subjects without a clear primary diagnosis fitting the broad disease categories defined