Table 1.

Identification of a Gene Mutated in PCARP by Resequencing of the 4.2 Mb AXPC1 Locus

	Samplesb
	25 HA	11 HA	3 HET	9 HET	31 HU	21 HU
Nucleotidea	Reads with Variant / Total Reads						SNV	Location	Conservationc
207,488,200	35/35	11/11	4/8	8/25	1/16	1/22	C>T	intergenic	−0.989
210,852,233	69/69	25/25	5/12	20/49	1/30	0/28	G>T	intron 1, ATF3	0.962
210,466,429	66/66	31/31	14/22	24/62	3/44	0/36	C>T	intergenic	0.517
208,525,955	17/17	15/15	8/13	9/15	1/12	0/16	T>G	intergenic	−2.731
210,458,101	39/39	19/19	6/10	19/39	2/30	0/27	C>A	intergenic	0.875
209,124,254	47/47	24/24	8/20	18/44	1/35	0/40	C>G	intron 7, KCNH1	−0.536
211,098,778	47/47	18/18	6/13	18/51	1/35	0/40	A>Gd	CDS, FLVCR1	0.373
208,426,496	65/65	31/31	7/14	20/42	0/33	0/42	A>G	intergenic	−0.628
209,113,813	55/55	32/32	4/10	16/40	0/23	0/29	C>G	intron 7, KCNH1	−0.377

Abbreviations are as follows: CDS, coding sequence; HA, homozygous affected; HET, heterozygous; HU, homozygous unaffected; SNV, single nucleotide variant.

^aThe nucleotide position is according to the chromosome 1 NCBI36/hg18 assembly. Genomic coordinates are 0-based.

^bSample numbers correspond to individuals shown in Figure 1. The haplotype and affection status are as follows: Samples 25 and 11, homozygous affected; samples 3 and 9, heterozygous; samples 31 and 21, homozygous unaffected.

^cConservation score based on multiple genome alignment data calculated by the PhastCons program.

^dThe SNV read-stack raw data is found in Figure S5.