Type | Frequencya | Number of variants | Functional variation | ||||||||
---|---|---|---|---|---|---|---|---|---|---|---|
Protein coding region | Non-coding region | ||||||||||
Silent/nonframeshift | Missense/frameshift | Stoploss/Stopgain | Unknown | Intronic | Intergenic | Splicing | UTR | ncRNA | |||
SNP | Singleton | 17,811,366 | 86,804 | 146,480 | 3722 | 2690 | 6,842,300 | 9,370,754 | 2110 | 247,422 | 1,109,084 |
Rare | 13,673,626 | 54,642 | 87,791 | 1658 | 1917 | 5,270,353 | 7,248,270 | 1363 | 164,492 | 843,140 | |
Low | 3,430,315 | 12,753 | 15,710 | 232 | 428 | 1,299,727 | 1,851,373 | 245 | 38,673 | 211,174 | |
Common | 5,727,339 | 17,886 | 15,981 | 151 | 729 | 2,049,372 | 3,228,994 | 159 | 53,221 | 360,846 | |
Total | 40,642,646 | 172,085 | 265,962 | 5763 | 5764 | 15,461,752 | 21,699,391 | 3877 | 503,808 | 2,524,244 | |
Indel | Singleton | 1,402,707 | 3191 | 5068 | 157 | 129 | 558,772 | 717,182 | 517 | 27,748 | 89,943 |
Rare | 1,376,996 | 2733 | 2884 | 127 | 127 | 544,183 | 717,045 | 217 | 22,047 | 87,633 | |
Low | 452,337 | 634 | 827 | 37 | 37 | 173,946 | 241,506 | 61 | 6444 | 28,845 | |
Common | 569,436 | 422 | 369 | 18 | 89 | 207,132 | 317,135 | 145 | 7157 | 36,969 | |
Total | 3,801,476 | 6980 | 9148 | 339 | 382 | 1,484,033 | 1,992,868 | 940 | 63,396 | 243,390 |