| . | Unique without considering gap (dbSNP#a, %b) . | overlapped . | Unique with considering gap (dbSNP#a, %b) . |
|---|---|---|---|
| startloss | 0 | 492 | 0 |
| Stoploss | 0 | 223 | 2(1, 100%) |
| Stopgain | 87(66, 1.52%) | 3905 | 30(22, 86.36%) |
| Splicing | 0 | 2287 | 0 |
| Missense | 829(651, 2%) | 225 145 | 549(443, 95%) |
| Synonymous | 493(396, 0.25%) | 166 857 | 858(672, 93.75%) |
| Total | 1409 | 398 910 | 1439 |
| . | Unique without considering gap (dbSNP#a, %b) . | overlapped . | Unique with considering gap (dbSNP#a, %b) . |
|---|---|---|---|
| startloss | 0 | 492 | 0 |
| Stoploss | 0 | 223 | 2(1, 100%) |
| Stopgain | 87(66, 1.52%) | 3905 | 30(22, 86.36%) |
| Splicing | 0 | 2287 | 0 |
| Missense | 829(651, 2%) | 225 145 | 549(443, 95%) |
| Synonymous | 493(396, 0.25%) | 166 857 | 858(672, 93.75%) |
| Total | 1409 | 398 910 | 1439 |
Note: The RefGene model and reference coding DNA sequences were provided by UCSC on Oct 10, 2015 for KGGSeq. The splicing variants were the variants within 2 bp sites of both ends of an intron. a: the number of variant available in dbSNP; b: proportion of variants with consistent annotations between the dbSNP (b144_GRCh37p13) and KGGSeq among the dbSNP available variants.
| . | Unique without considering gap (dbSNP#a, %b) . | overlapped . | Unique with considering gap (dbSNP#a, %b) . |
|---|---|---|---|
| startloss | 0 | 492 | 0 |
| Stoploss | 0 | 223 | 2(1, 100%) |
| Stopgain | 87(66, 1.52%) | 3905 | 30(22, 86.36%) |
| Splicing | 0 | 2287 | 0 |
| Missense | 829(651, 2%) | 225 145 | 549(443, 95%) |
| Synonymous | 493(396, 0.25%) | 166 857 | 858(672, 93.75%) |
| Total | 1409 | 398 910 | 1439 |
| . | Unique without considering gap (dbSNP#a, %b) . | overlapped . | Unique with considering gap (dbSNP#a, %b) . |
|---|---|---|---|
| startloss | 0 | 492 | 0 |
| Stoploss | 0 | 223 | 2(1, 100%) |
| Stopgain | 87(66, 1.52%) | 3905 | 30(22, 86.36%) |
| Splicing | 0 | 2287 | 0 |
| Missense | 829(651, 2%) | 225 145 | 549(443, 95%) |
| Synonymous | 493(396, 0.25%) | 166 857 | 858(672, 93.75%) |
| Total | 1409 | 398 910 | 1439 |
Note: The RefGene model and reference coding DNA sequences were provided by UCSC on Oct 10, 2015 for KGGSeq. The splicing variants were the variants within 2 bp sites of both ends of an intron. a: the number of variant available in dbSNP; b: proportion of variants with consistent annotations between the dbSNP (b144_GRCh37p13) and KGGSeq among the dbSNP available variants.
This PDF is available to Subscribers Only
View Article Abstract & Purchase OptionsFor full access to this pdf, sign in to an existing account, or purchase an annual subscription.
