|
3
|
1 #snp_pos str gene transcript ccid ccds cciden refa type ntpos nt1 nt2 flanks trv cpg jxdon jxacc exon cexon jxc dgn cdnpos frame cdn1 cdn2 aa1 aa2 aapos spmap spacc spname refs_acc dbrsid dbobsrvd dbavHet dbavHetSE dbRmPaPt comments
|
|
|
2 chr1:1267483 + TAS1R3 uc010nyk.1 59 CCDS30556.1 0.999 G/A missense 758 G A CT 0 1 -164 -80 3/6 3/6 ? 0 191 1 CGT CAT R H 191 1 Q7RTX0 TS1R3_HUMAN NP_689414 rs141717515 A/G 0.00063 0.017742 G>G>G
|
|
|
3 chr1:1158631 - SDF4 uc001adh.3 49 CCDS30553.1 1 A/C missense 8817 T G AG 1 0 +8 -107 4/7 3/6 ? 2 190 2 GAT GAG D E 190 1 Q9BRK5 CAB45_HUMAN NP_057260 ? ? ? ? ?
|
|
|
4 chr1:1158631 - SDF4 uc001adh.3 49 CCDS30553.1 1 A/G coding-synon 8817 T C AG 0 2 +8 -107 4/7 3/6 ? 2 190 2 GAT GAC D D 190 1 Q9BRK5 CAB45_HUMAN NP_057260 rs6603781 T/C 0.133948 0.221431 T>C>C
|
|
|
5 chr1:1158631 - SDF4 uc001adh.3 49 CCDS30553.1 1 A/T missense 8817 T A AG 1 0 +8 -107 4/7 3/6 ? 2 190 2 GAT GAA D E 190 1 Q9BRK5 CAB45_HUMAN NP_057260 ? ? ? ? ?
|
|
|
6 chr1:1158631 - SDF4 uc001adi.3 ? CCDS12.1 1 A/C missense 8817 T G AG 1 0 +8 -107 4/7 3/6 ? 2 190 2 GAT GAG D E 190 1 Q9BRK5-6 CAB45_HUMAN NP_057631 ? ? ? ? ?
|
|
|
7 chr1:1158631 - SDF4 uc001adi.3 ? CCDS12.1 1 A/G coding-synon 8817 T C AG 0 2 +8 -107 4/7 3/6 ? 2 190 2 GAT GAC D D 190 1 Q9BRK5-6 CAB45_HUMAN NP_057631 rs6603781 T/C 0.133948 0.221431 T>C>C
|
|
|
8 chr1:1158631 - SDF4 uc001adi.3 ? CCDS12.1 1 A/T missense 8817 T A AG 1 0 +8 -107 4/7 3/6 ? 2 190 2 GAT GAA D E 190 1 Q9BRK5-6 CAB45_HUMAN NP_057631 ? ? ? ? ?
|
|
|
9 chr1:1158631 - SDF4 uc001adj.1 ? ? ? A/C missense 718 T G AG 1 0 -580 -107 2/2 2/2 ? 2 68 2 GAT GAG D E 190 1 Q9BRK5 CAB45_HUMAN ? ? ? ? ? ?
|
|
|
10 chr1:1158631 - SDF4 uc001adj.1 ? ? ? A/G coding-synon 718 T C AG 0 2 -580 -107 2/2 2/2 ? 2 68 2 GAT GAC D D 190 1 Q9BRK5 CAB45_HUMAN ? rs6603781 T/C 0.133948 0.221431 T>C>C
|
|
|
11 chr1:1158631 - SDF4 uc001adj.1 ? ? ? A/T missense 718 T A AG 1 0 -580 -107 2/2 2/2 ? 2 68 2 GAT GAA D E 190 1 Q9BRK5 CAB45_HUMAN ? ? ? ? ? ?
|
|
|
12 chr1:1158631 - SDF4 uc009vjv.2 ? ? ? A/C missense 8817 T G AG 1 0 +8 -107 3/6 2/5 ? 2 68 2 GAT GAG D E 190 1 Q9BRK5 CAB45_HUMAN NP_057260 ? ? ? ? ?
|
|
|
13 chr1:1158631 - SDF4 uc009vjv.2 ? ? ? A/G coding-synon 8817 T C AG 0 2 +8 -107 3/6 2/5 ? 2 68 2 GAT GAC D D 190 1 Q9BRK5 CAB45_HUMAN NP_057260 rs6603781 T/C 0.133948 0.221431 T>C>C
|
|
|
14 chr1:1158631 - SDF4 uc009vjv.2 ? ? ? A/T missense 8817 T A AG 1 0 +8 -107 3/6 2/5 ? 2 68 2 GAT GAA D E 190 1 Q9BRK5 CAB45_HUMAN NP_057260 ? ? ? ? ?
|
|
|
15 ## Totals:
|
|
|
16 ## lines input 2
|
|
|
17 ## lines skipped 0
|
|
|
18 ## alleles annotated 13
|
|
|
19 ## missense 9
|
|
|
20 ## nonsense 0
|
|
|
21 ## coding-synon 4
|
|
|
22 ## intron 0
|
|
|
23 ## utr-3 0
|
|
|
24 ## utr-5 0
|
