Table III. Variant, Median Singleton, and Carrier Proportion for Genes with Highest and Lowest Carrier Proportions.
| Subjects with rare NS variant count | |||||||||
|---|---|---|---|---|---|---|---|---|---|
|
| |||||||||
| Gene | Chr | # Total | # Rare | Singleton Proportion | 0 | 1 | 2 | 3+ | Carrier Proportion |
| TACC2 | 10 | 255 | 230 | 0.53 | 3,823 | 679 | 76 | 33 | 17.1% |
| MYO9B | 19 | 158 | 151 | 0.46 | 4,235 | 351 | 25 | 0 | 8.2% |
| ANKLE1 | 19 | 82 | 71 | 0.45 | 4,260 | 321 | 21 | 9 | 7.6% |
| FAM129C | 19 | 67 | 61 | 0.48 | 4,299 | 286 | 25 | 1 | 6.8% |
| ZFYVE26 | 14 | 131 | 121 | 0.66 | 4,348 | 253 | 9 | 1 | 5.7% |
|
| |||||||||
| HAUS8 | 19 | 40 | 36 | 0.67 | 4,545 | 65 | 1 | 0 | 1.4% |
| PGLS | 19 | 20 | 19 | 0.53 | 4,548 | 63 | 0 | 0 | 1.4% |
| ABHD8 | 19 | 20 | 19 | 0.47 | 4,551 | 59 | 1 | 0 | 1.3% |
| BTBD16 | 10 | 23 | 21 | 0.62 | 4,553 | 58 | 0 | 0 | 1.3% |
| DDA1 | 19 | 7 | 7 | 0.43 | 4,565 | 46 | 0 | 0 | 1.0% |
|
| |||||||||
| Median | --- | 32 | 29 | 0.58 | 4,527 | 75 | 1 | 0 | 1.8% |
Chr = Chromosome; Total = Varying non-synonymous(NS) sites observed in study population; Rare = Varying sites with minor allele frequency (MAF) < 0.005, a subset of Total; Singleton Proportion - Median number of singleton sites as described in Figure I as a proportion of Rare; ‘0’, ‘1’, ‘2’, and ‘3+’ - Number of subjects out of 4,611 with 0, 1, 2, and 3 or more NS rare minor alleles. Carrier Proportion - Proportion of study subjects with at least one rare, NS minor allele.