Comparing distributions of experimental and random diffusion values (p-values for KS tests)
Seeds	Recipients	Randomize Seeds (degree-matched)	Randomize Recipients (degree-matched)	Randomize Seeds (uniform)	Randomize Recipients (uniform)
EA spliceAI splice_region Exclusive	familial	2.33e-01	1.44e-01	1.08e-03	2.32e-09
familial Exclusive	EA spliceAI splice_region	1.95e-03	2.95e-01	6.14e-11	4.86e-03
EA spliceAI splice_region Exclusive	familial Exclusive	4.33e-01	3.49e-01	3.32e-03	2.50e-08
familial Exclusive	EA spliceAI splice_region Exclusive	1.94e-03	2.87e-01	7.91e-11	2.14e-03
EA spliceAI splice_region Exclusive	Overlap	2.11e-01	4.89e-02	5.42e-03	3.55e-03
familial Exclusive	Overlap	9.85e-05	9.85e-05	9.85e-05	2.96e-04
Overlap	Exclusives	1.60e-03	6.70e-03	4.78e-29	5.87e-08



Evaluating how well EA spliceAI splice_region genes are linked to familial genes, comparing against random

ROC results
Seeds	Recipients	AUROC	Z-score for Random Seeds (degree-matched)	Z-score for Random Recipients (degree-matched)	Z-score for Random Seeds (uniform)	Z-score for Random Recipients (uniform)
EA spliceAI splice_region Exclusive	familial	0.89	1.06	3.06	1.51	7.08
familial Exclusive	EA spliceAI splice_region	0.59	1.41	2.20	1.91	3.28
EA spliceAI splice_region Exclusive	familial Exclusive	0.88	0.88	2.40	1.39	6.80
familial Exclusive	EA spliceAI splice_region Exclusive	0.58	1.40	2.05	2.00	3.48
EA spliceAI splice_region Exclusive	Overlap	0.97	0.72	1.45	1.29	2.33
familial Exclusive	Overlap	1.00	1.53	2.56	2.38	2.45
Overlap	Exclusives	0.63	2.50	4.10	1.96	6.56

PRC results
Seeds	Recipients	AUPRC	Z-score for Random Seeds (degree-matched)	Z-score for Random Recipients (degree-matched)	Z-score for Random Seeds (uniform)	Z-score for Random Recipients (uniform)
EA spliceAI splice_region Exclusive	familial	0.01	-0.26	1.96	1.24	18.92
familial Exclusive	EA spliceAI splice_region	0.01	0.99	0.97	2.63	3.26
EA spliceAI splice_region Exclusive	familial Exclusive	0.01	-0.39	0.72	0.90	15.98
familial Exclusive	EA spliceAI splice_region Exclusive	0.01	0.49	0.47	1.89	4.03
EA spliceAI splice_region Exclusive	Overlap	0.00	0.09	4.36	1.53	3.56
familial Exclusive	Overlap	0.02	11.17	141.60	84.90	20.73
Overlap	Exclusives	0.03	7.31	9.90	10.10	23.50

Z-scores are computed for the experimental area under ROC or PRC based on distributions of the random areas under these curves
Seeds: Genes where diffusion signal starts FROM)
Recipients: Genes that receive the diffusion signal and that are in the other validated group
Random genes are selected either uniformly or degree matched



Number of genes
**	#Total	# Mapped in the network	Not mapped genes	 
EA spliceAI splice_region Exclusive	176	170	CBS;AP000781.2;TEX52;SMIM6;C16orf86;BORCS8-MEF2B
familial Exclusive	21	21	
Overlap	2	2