Table 2.

Copy-Number Variations and Exome Variants Detected by CGH and Exome Sequencing in Edited PKD2iPSCs

CGH Analysis
Number	Chromosome	Cytoband	Size (bp)	Type	Present in PKD2iPSC c78	Present in PKD2 PB-MNCs
1	1	q44	60,641	DEL	no	no
2	3	p12.2-p12.1	3,931,633	LOH	yes	no
3	8	q11.23	169,460	AMP	yes	no
4	11	q14.1	113,264	DEL	yes	no
5	12	p12.3	1,182,747	AMP	yes	no
6	17	q21.31	199,747	AMP	yes	no
7	X	p11.22	6,030	AMP	no	no
Exome Sequencing
Number	Chromosome	Reference Base	Altered Base	Gene	Type	Present in PKD2iPSC c78
1	9	−	TGCCTCCACCACACC	PHF2	nonframeshift insertion	no
2	16	G	T	ZNF747	nonsynonymous SNV	no
3	6	G	C	SNX3	nonsynonymous SNV	no
4	22	A	T	TUBGCP6	nonsynonymous SNV	no
5	10	A	G	TARC2	nonsynonymous SNV	no
6	7	C	A	TNRC18	stop-gain SNV	no
7	18	C	A	MBD2	nonsynonymous SNV	yes
8	18	C	A	MBD2	nonsynonymous SNV	yes
9	9	G	T	RUSC2	nonsynonymous SNV	yes
10	11	G	A	APOA5	nonsynonymous SNV	yes

SNV, single-nucleotide variation. See also Tables S4 and S5.