Table 1 Number of coding variants discovered in exome sequencing of 141,046 MCPS participants
From: Genotyping, sequencing and analysis of 140,000 adults from Mexico City
Variant category (all transcripts) | N variants (% with MAC = 1) | Median number of alternative alleles per participant (IQR) | Mean number of alternative alleles per participant (s.d.) | Median number of variants per participant (IQR) | Mean number of variants per participant (s.d.) |
|---|---|---|---|---|---|
Coding regions | 4,037,949 (30.87) | 29,119 (291) | 29,126 (235) | 20,849 (628) | 20,795 (454) |
Predicted function | |||||
In-frame indels | 44,469 (30.97) | 281 (16) | 281 (12) | 207 (14) | 207 (10) |
Synonymous | 1,233,054 (28.04) | 14,900 (169) | 14,902 (134) | 10,641 (320) | 10,615 (234) |
Missense | 2,526,776 (31.4) | 13,585 (163) | 13,588 (127) | 9,722 (300) | 9,699 (217) |
Likely benign | 535,622 (27.94) | 9,908 (121) | 9,910 (93) | 6,748 (191) | 6,735 (138) |
Possibly deleterious | 1,441,180 (31.17) | 3,564 (74) | 3,564 (56) | 2,857 (113) | 2,853 (82) |
Likely deleterious | 549,974 (35.38) | 114 (16) | 114 (12) | 111 (15) | 112 (12) |
pLOF | 233,650 (40.06) | 354 (20) | 354 (15) | 273 (19) | 273 (14) |
Start lost | 9,768 (36.1) | 27 (5) | 27 (4) | 21 (4) | 21 (3) |
Stop gain | 77,589 (39.05) | 85 (9) | 85 (7) | 67 (8) | 67 (6) |
Stop lost | 3,539 (35.21) | 13 (3) | 13 (3) | 10 (2) | 10 (2) |
Splice donor | 26,364 (40.06) | 38 (6) | 38 (5) | 30 (5) | 30 (4) |
Frameshift | 96,098 (41.29) | 146 (14) | 147 (10) | 113 (13) | 114 (9) |
Splice acceptor | 20,292 (40.81) | 44 (6) | 44 (5) | 32 (5) | 32 (4) |
