A human genome-wide library of local phylogeny predictions for whole-genome inference problems

BMC Genomics

Table 5 Windows centered on non-synonymous coding SNPs exhibiting the greatest imperfection, excluding recombination hotspots.

central SNP^a	chr.^b	pos.^c	i _CEU ^d	i _YRI ^e	gene^f	variation^g
rs1810247	15	19915318	5	11	LOC650137 seven transmembrane helix receptor	C85R
rs17690844	8	17656239	4	10	MTUS1 mitochondrial tumor suppressor 1	T453K
rs2368406	10	29824078	6	8	SVIL supervillin	A809P
rs4973588	2	233660480	4	9	NGEF neuronal guanine nucleotide exchange factor	T111M
rs7208422	17	73642170	8	5	TMC8 transmembrane channel-like 8	I306N
rs3751928	17	68792947	7	6	CDC42EP4 CDC42 effector protein (Rho GTPase binding) 4
rs7627615	3	185301118	4	9	HTR3E 5-hydroxytryptamine (serotonin) receptor 3, family member E	T86A
rs2802808	1	201698085	4	8	NFASC neurofascin homolog (chicken)
rs10790715	11	124298892	5	7	HEPACAM hepatocyte cell adhesion molecule	V218M
rs557806	19	54069054	5	7	PPP1R15A protein phosphatase 1 regulatory (inhibitor) subunit 15A	P251R
rs1356410	15	40222129	5	7	PLA2G4F phospholipase A2 group IVF	V740M
rs351111	19	795020	6	6	PRTN3 proteinase 3 (serine proteinase, neutrophil, Wegener granulomatosis autoantigen)	I119V

(a) refSNP ID of the central SNP of the window
(b) chromosome on which the window is found
(c) genomic map position of the central SNP
(d) imperfection in the CEU population
(e) imperfection in the YRI population
(f) gene containing the central SNP of the window
(e) amino acid change produced by the SNP. Annexin A13 has two splice isoforms resulting in two possible sites of variation.

ISSN: 1471-2164