Table 4.
Cell line ID | Locus (hg19) | Gene | Variant type | Effect |
HNDS0068-01 #B CC3 | Chr20:62071011 | KCNQ2 | SNP | synonymous |
HNDS0078-01 #D CC8 | Chr20:62073825 | KCNQ2 | SNP | synonymous |
Chr20:62073828 | KCNQ2 | SNP | Synonymous | |
Chr20:62073873-62073875 | KCNQ2 | MNP | Nonframeshift substitution | |
HNDS0078-01 #D CC18 | Chr20:62073825 | KCNQ2 | SNP | synonymous |
Chr20:62073828 | KCNQ2 | SNP | synonymous | |
HNDS0072-01 #C CC80 | Chr20:62071055 | KCNQ2 | SNP | synonymous |
Chr20:62071037 | KCNQ2 | insertion | Frameshift insertion | |
HNDS0072-01 #C CC20 | Chr20:62071055 | KCNQ2 | SNP | synonymous |
31 CC-het | Chr9:80412493 | GNAQ | SNP | nonsynonymous |
31 CC-hom | Chr9:80412493 | GNAQ | SNP | nonsynonymous |
1-1134-003_CC10 | Chr1:155451881 | ASH1L | SNP | synonymous |
Chr1:155451898 | ASH1L | SNP | synonymous | |
Chr1:155451904 | ASH1L | SNP | synonymous | |
1-1217-003_CC37 | Chr1:155447750 | ASH1L | SNP | synonymous |
Chr1:155447753 | ASH1L | SNP | synonymous | |
Chr1:155447771 | ASH1L | SNP | synonymous | |
1-1006-003_CC9 | Chr1:155450705 | ASH1L | SNP | synonymous |
Chr1:155450708 | ASH1L | SNP | synonymous | |
Chr1:155450723 | ASH1L | SNP | synonymous |