Table 4 Validation of MEI detection in WGS and WES paired-end data
From: Mobster: accurate detection of mobile element insertions in next generation sequencing data
Whole genome | ||||||||
|---|---|---|---|---|---|---|---|---|
Chr | Predicted insertion point | MEI | Gene component a | Gene name | Genotype | TSD | Novel b | Validated |
chr1 | 60,470,596 | Alu | Intronic | C1orf87 | Heterozygous | Duplication | Â | Yes |
chr1 | 83,201,791 | L1 | Intergenic | Â | Heterozygous | Duplication | Yes | Yes |
chr1 | 93,167,519 | Alu | Intronic | EVI5 | Homozygous | Unknown | Â | Yes |
chr1 | 142,803,597 | L1 | Intergenic | Â | Homozygous reference | Duplication | Yes | No |
chr3 | 103,171,382 | Alu | Intergenic | Â | Heterozygous | Deletion | Â | Yes |
chr4 | 80,883,493 | Alu | Intronic | ANTXR2 | Heterozygous | Duplication | Yes | Yes |
chr8 | 53,791,040 | Alu | Intergenic | Â | Heterozygous | Duplication | Â | Yes |
chr8 | 132,672,106 | Alu | Intergenic | Â | Heterozygous | Duplication | Yes | Yes |
chr10 | 130,625,059 | L1 | Intergenic | Â | Heterozygous | Duplication | Â | Yes |
chr17 | 43,660,608 | SVA | Intergenic | Â | Heterozygous | Unknown | Â | Yes |
chr20 | 29,638,569 | L1 | Upstream | MLLT10P1 | Heterozygous | Duplication | Â | Yes |
Whole exome | ||||||||
Chr | Predicted insertion point | MEI | Gene component a | Gene name | Genotype | TSD | Novel b | Validated |
chr1 | 93,167,519 | Alu | Intronic | EVI5 | Homozygous | Unknown | Â | Yes |
chr2 | 11,426,360 | Alu | Intronic | ROCK2 | Homozygous | Unknown | Â | Yes |
chr3 | 50,879,159 | Alu | Exonic | DOCK3 | Homozygous | Unknown | Â | Yes |
chr5 | 173,036,482 | L1 | Exonic | BOD1 | NA | Unknown | Yes | No |
chr6 | 52,712,717 | Alu | Intergenic | Â | Homozygous | Unknown | Â | Yes |
chr9 | 68,415,155 | Alu | Intergenic | Â | NA | Unknown | Â | Yesc |
chr11 | 428,014 | Alu | Intronic | ANO9 | Homozygous | Unknown | Â | Yes |
chr11 | 112,084,617 | L1 | Intronic | BCO2 | Heterozygous | Unknown | Â | Yes |
chr17 | 61,565,890 | Alu | Intronic | ACE | Heterozygous | Unknown | Â | Yes |
chr19 | 52,888,055 | Alu | Exonic | ZNF880 | Homozygous | Duplication | Â | Yes |