An association-adjusted consensus deleterious scheme to classify homozygous Mis-sense mutations for personal genome interpretation

Table 1 Summary of genetic variations in genome sequences of 12 individuals

Subject ID	Eth, sex	Total variants			Coding variants								Homozygous nsSNPs
		*(>q20)*			*(Based on gencode v7)*								*(Based on dbSNP build 137)*
		SNPs	Indels	SVs	SNPs				Indels			SVs	#Known nsSNPs	#Unique genes	#*de novo* nsSNPs	#Unique genes
					S	MS	NS	Splice	Indels	Indels	Indels	SVs
					S	MS	NS	overlap	FS	NFS	overlap	overlap
1	Afr, F	4513763	733596	4251	14793	14039	72	98	381	342	137	37	88	77	2	2
2	Afr, F	4472988	754399	4545	14500	13712	66	106	393	335	147	55	71	63	3	3
3	Afr, F	4287739	722922	4447	13755	13166	84	79	374	301	120	43	77	71	3	2
4	Afr, F	4443799	746111	4368	14488	13874	73	104	366	338	142	40	58	56	1	1
5	Cau, F	3734820	645032	3977	11929	11745	62	90	343	307	123	43	57	40	2	2
6	Cau, F	3691337	633475	4114	11757	11457	56	90	317	280	106	49	52	45	None	None
7	Cau, F	3691270	632544	4033	11912	11488	65	71	279	304	116	37	50	44	4	4
8	Cau, F	3722234	641792	4197	11887	11434	64	76	303	299	125	41	55	42	None	None
9	Cau, M	3647944	590064	3828	11619	11255	54	76	311	281	95	38	60	50	2	2
10	Cau, M	3643046	597363	4011	11814	11480	61	85	289	287	109	31	82	65	2	2
11	Cau, M	3650690	602744	3916	11560	11285	60	80	342	280	112	32	72	65	5	5
12	Cau, M	3701558	639005	4739	11842	11708	60	81	334	290	118	37	75	64	5	5
													#Total = 797	#Unique = 575	#Total = 29	#Unique = 25

Abbreviations: Eth ethnicity, SNPs single nucleotide polymorphisms, SV structural variants, S synonymous, MS mis-sense, NS nonsense, FS frameshift, NFS non frameshift.

ISSN: 1756-0381