Table 2. Estimates of rdnsv in the 200 exomes in sets of genes as defined by ontology (GO) annotations.

Gene Ontology (GO) category	genes	nsSNVs	sSNVs	mean rdnsv	sd rdnsv	rdnsv0	rdnsv1
A)
GO:0007169:transmembrane_receptor_tyrosine_kinase_signaling	313	365	636	0.121	0.011	0.385	0.072
GO:0007167:enzyme_linked_receptor_protein_signaling_pathway	394	466	771	0.128	0.01	0.397	0.095
GO:0006935:chemotaxis	337	405	669	0.136	0.01	0.401	0.094
GO:0048812:neuron_projection_morphogenesis	326	445	703	0.139	0.011	0.396	0.11
GO:0007409:axonogenesis	303	420	664	0.141	0.012	0.397	0.11
GO:0031175:neuron_projection_development	368	510	795	0.143	0.011	0.4	0.119
GO:0048667:cell_morphogenesis_involved_in_neuron_differentiation	322	446	694	0.146	0.012	0.397	0.12
GO:0043005:neuron_projection	411	587	831	0.15	0.01	0.484	0.1
GO:0045202:synapse	326	477	633	0.151	0.013	0.544	0.089
GO:0048666:neuron_development	436	578	890	0.153	0.011	0.399	0.126
B)
GO:0005815:microtubule_organizing_center	277	542	484	0.344	0.025	0.5	0.399
GO:0005576:extracellular_region	1322	2281	1948	0.345	0.012	0.644	0.341
GO:0006952:defense_response	525	764	691	0.351	0.022	0.556	0.345
GO:0006955:immune_response	500	696	625	0.357	0.023	0.533	0.393
GO:0004871:signal_transducer_activity	1170	2350	1994	0.4	0.016	0.586	0.369
GO:0004872:receptor_activity	1233	2710	2218	0.406	0.015	0.615	0.368
GO:0038023:signaling_receptor_activity	913	2046	1583	0.456	0.019	0.624	0.43
GO:0004888:transmembrane_signaling_receptor_activity	844	1991	1489	0.466	0.02	0.654	0.437
GO:0004930:G-protein_coupled_receptor_activity	604	1469	890	0.603	0.029	0.741	0.573
GO:0004984:olfactory_receptor_activity	310	1024	430	0.896	0.048	1.011	0.993

The 10 GO-categories with the smallest (A) and the greatest (B) mean values of rdnsv are shown. The full list of all GO-categories with at least 1000 coding SNVs is given in Table S3. For each category the number of annotated genes, nonsynonymous and synonymous SNVs, the mean and standard deviation of individual rdnsv estimates across the 200 exomes, as well as the values of rdnsv₀ and rdnsv₁, are shown.