Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C2285 |
Reference Plasmid |
1111525849759006_bin.23__k141_58606 |
Reference Plasmid Size |
75419 |
Reference Plasmid GC Content |
0.32 |
Reference Plasmid Mobility Type |
non-mobilizable |
Mutation sites in the plasmid cluster
The table lists mutations identified in the plasmid cluster.
Note: Mutations identified in this plasmid cluster are listed below. Click on a mutation ID to view full details..
mutid |
gname |
pos |
count |
tissue |
frequnt |
biotype |
consequence |
impact |
nucchange |
aachange |
M0033263 |
CAOHNBLL_00023 |
31766 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4326A>C |
None |
M0033264 |
CAOHNBLL_00023 |
31773 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4333G>A |
None |
M0033265 |
CAOHNBLL_00030 |
32555 |
8 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1131G>A |
Thr377Thr |
M0033266 |
CAOHNBLL_00030 |
33221 |
8 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
465C>T |
Leu155Leu |
M0033267 |
CAOHNBLL_00030 |
33229 |
7 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
457C>A |
Arg153Arg |
M0033268 |
CAOHNBLL_00030 |
33491 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
195A>G |
Lys65Lys |
M0033269 |
CAOHNBLL_00026 |
33726 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3672A>G |
None |
M0033270 |
CAOHNBLL_00026 |
33816 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3762T>A |
None |
M0033271 |
CAOHNBLL_00026 |
33817 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3763A>G |
None |
M0033272 |
CAOHNBLL_00026 |
33904 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3850T>G |
None |
M0033273 |
CAOHNBLL_00026 |
33907 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3853T>A |
None |
M0033274 |
CAOHNBLL_00026 |
33926 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3872A>T |
None |
M0033275 |
CAOHNBLL_00031 |
34073 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1138A>C |
Ile380Leu |
M0033276 |
CAOHNBLL_00031 |
34083 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1128G>A |
Thr376Thr |
M0033277 |
CAOHNBLL_00031 |
34092 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1119T>C |
Tyr373Tyr |
M0033278 |
CAOHNBLL_00031 |
34133 |
7 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1078G>T |
Asp360Tyr |
M0033279 |
CAOHNBLL_00031 |
34258 |
7 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
953T>G |
Val318Gly |
M0033280 |
CAOHNBLL_00031 |
34284 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
927A>T |
Ala309Ala |
M0033281 |
CAOHNBLL_00015 |
16528 |
9 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
762A>T |
Ile254Ile |
M0033282 |
CAOHNBLL_00015 |
16718 |
8 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
572A>G |
Asp191Gly |
M0033283 |
CAOHNBLL_00022 |
24937 |
16 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
1297A>C |
Ile433Leu |
M0033284 |
CAOHNBLL_00023 |
26750 |
14 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
691A>G |
Asn231Asp |
M0033285 |
CAOHNBLL_00023 |
26912 |
21 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
529T>G |
Tyr177Asp |
M0033286 |
CAOHNBLL_00024 |
27682 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
610G>T |
Ala204Ser |
M0033287 |
CAOHNBLL_00019 |
28384 |
9 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4996A>C |
None |
M0033288 |
CAOHNBLL_00027 |
30118 |
17 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
996T>G |
Asn332Lys |
M0033289 |
CAOHNBLL_00030 |
33551 |
10 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
135G>A |
Gly45Gly |
M0033290 |
CAOHNBLL_00031 |
34684 |
9 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
527A>T |
Lys176Ile |
M0033291 |
CAOHNBLL_00036 |
40369 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
312G>A |
Ser104Ser |
M0033292 |
CAOHNBLL_00036 |
40386 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
329G>A |
Ser110Asn |
M0033293 |
CAOHNBLL_00036 |
40499 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
442G>A |
Val148Ile |
M0033294 |
CAOHNBLL_00036 |
41183 |
14 |
Skin |
0.13 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
1126T>C |
Ter376Glnext*? |
M0033295 |
CAOHNBLL_00039 |
43079 |
22 |
Skin |
0.21 |
protein_coding |
missense_variant |
MODERATE |
82A>G |
Ile28Val |
M0033296 |
CAOHNBLL_00021 |
23778 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
68T>C |
Leu23Ser |
M0033297 |
CAOHNBLL_00021 |
24431 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
721G>A |
Val241Ile |
M0033298 |
CAOHNBLL_00022 |
24851 |
7 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1383C>T |
Ser461Ser |
M0033299 |
CAOHNBLL_00022 |
25237 |
8 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
997A>G |
Ile333Val |
M0033300 |
CAOHNBLL_00022 |
25465 |
7 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
769G>A |
Val257Ile |
M0033301 |
CAOHNBLL_00022 |
25544 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
690A>G |
Leu230Leu |
M0033302 |
CAOHNBLL_00022 |
25552 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
682A>T |
Thr228Ser |
M0033303 |
CAOHNBLL_00022 |
25646 |
8 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
588C>A |
Pro196Pro |
M0033304 |
CAOHNBLL_00022 |
25706 |
7 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
528C>G |
Gly176Gly |
M0033305 |
CAOHNBLL_00024 |
27866 |
7 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
426T>A |
Thr142Thr |
M0033306 |
CAOHNBLL_00024 |
27884 |
7 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
408C>T |
Asp136Asp |
M0033307 |
CAOHNBLL_00024 |
27920 |
7 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
372A>T |
Thr124Thr |
M0033308 |
CAOHNBLL_00024 |
27941 |
7 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
351G>A |
Glu117Glu |
M0033309 |
CAOHNBLL_00025 |
29150 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
552C>A |
Gly184Gly |
M0033310 |
CAOHNBLL_00025 |
29372 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
774T>C |
Phe258Phe |
M0033311 |
CAOHNBLL_00026 |
30000 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
55G>C |
Val19Leu |
M0033312 |
CAOHNBLL_00027 |
30489 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
625T>C |
Phe209Leu |
M0033313 |
CAOHNBLL_00005 |
8629 |
20 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3427A>G |
None |
M0033314 |
CAOHNBLL_00069 |
72411 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
131C>T |
Ala44Val |
M0033315 |
CAOHNBLL_00058 |
64614 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
195C>T |
Ser65Ser |
M0033316 |
CAOHNBLL_00058 |
64630 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
179A>G |
Asp60Gly |
M0033317 |
CAOHNBLL_00058 |
64778 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
31T>A |
Leu11Met |
M0033318 |
CAOHNBLL_00058 |
64805 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
4C>T |
Pro2Ser |
M0033319 |
CAOHNBLL_00055 |
64822 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3299G>T |
None |
M0033320 |
CAOHNBLL_00059 |
65732 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
69T>G |
Gly23Gly |
M0033321 |
CAOHNBLL_00061 |
66246 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
429T>C |
Asp143Asp |
M0033322 |
CAOHNBLL_00061 |
66288 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
387T>A |
Ala129Ala |
M0033323 |
CAOHNBLL_00022 |
25193 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1041C>G |
Val347Val |
M0033324 |
CAOHNBLL_00022 |
25361 |
7 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
873T>C |
Asp291Asp |
M0033325 |
CAOHNBLL_00022 |
25419 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
815G>A |
Ser272Asn |
M0033326 |
CAOHNBLL_00022 |
25796 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
438C>T |
Arg146Arg |
M0033327 |
CAOHNBLL_00022 |
26133 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
101C>T |
Ala34Val |
M0033328 |
CAOHNBLL_00023 |
26527 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
914A>G |
Asp305Gly |
M0033329 |
CAOHNBLL_00023 |
26565 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
876A>G |
Pro292Pro |
M0033330 |
CAOHNBLL_00023 |
26760 |
7 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
681A>G |
Ile227Met |
M0033331 |
CAOHNBLL_00023 |
27037 |
7 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
404T>C |
Met135Thr |
M0033332 |
CAOHNBLL_00023 |
27143 |
7 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
298A>G |
Thr100Ala |
M0033333 |
CAOHNBLL_00023 |
27225 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
216T>C |
Arg72Arg |
M0033334 |
CAOHNBLL_00023 |
27249 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
192T>C |
Ala64Ala |
M0033335 |
CAOHNBLL_00023 |
27324 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
117T>C |
Phe39Phe |
M0033336 |
CAOHNBLL_00023 |
27389 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
52T>C |
Leu18Leu |
M0033337 |
CAOHNBLL_00023 |
27392 |
8 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
49A>T |
Ile17Phe |
M0033338 |
CAOHNBLL_00023 |
27396 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
45A>T |
Arg15Arg |
M0033339 |
CAOHNBLL_00024 |
27695 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
597A>G |
Leu199Leu |
M0033340 |
CAOHNBLL_00024 |
27761 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
531C>T |
Asp177Asp |
M0033341 |
CAOHNBLL_00019 |
28333 |
8 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4945A>C |
None |
M0033342 |
CAOHNBLL_00064 |
68779 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
255A>G |
Val85Val |
M0033343 |
CAOHNBLL_00058 |
69154 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4346T>C |
None |
M0033344 |
CAOHNBLL_00070 |
73181 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
133A>G |
Ser45Gly |
M0033345 |
CAOHNBLL_00004 |
3396 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
60C>T |
Tyr20Tyr |
M0033346 |
CAOHNBLL_00004 |
3612 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
276A>G |
Ala92Ala |
M0033347 |
CAOHNBLL_00004 |
3786 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
450C>T |
Gly150Gly |
M0033348 |
CAOHNBLL_00002 |
3910 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1365C>T |
None |
M0033349 |
CAOHNBLL_00002 |
3938 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1393T>A |
None |
M0033350 |
CAOHNBLL_00002 |
3956 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1411A>C |
None |
M0033351 |
CAOHNBLL_00005 |
4033 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1170G>T |
Ala390Ala |
M0033352 |
CAOHNBLL_00005 |
4036 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1167T>A |
Thr389Thr |
M0033353 |
CAOHNBLL_00005 |
4141 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1062T>C |
Ser354Ser |
M0033354 |
CAOHNBLL_00005 |
4153 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1050G>C |
Gly350Gly |
M0033355 |
CAOHNBLL_00005 |
4156 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1047G>A |
Lys349Lys |
M0033356 |
CAOHNBLL_00005 |
4257 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
946T>A |
Phe316Ile |
M0033357 |
CAOHNBLL_00005 |
4339 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
864A>G |
Arg288Arg |
M0033358 |
CAOHNBLL_00005 |
4363 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
840T>A |
Gly280Gly |
M0033359 |
CAOHNBLL_00005 |
4477 |
14 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
726T>C |
Tyr242Tyr |
M0033360 |
CAOHNBLL_00005 |
4483 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
720C>T |
Phe240Phe |
M0033361 |
CAOHNBLL_00005 |
4504 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
699T>C |
Gly233Gly |
M0033362 |
CAOHNBLL_00005 |
4627 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
576C>T |
Leu192Leu |
M0033363 |
CAOHNBLL_00005 |
4685 |
3 |
Skin |
0.03 |
protein_coding |
stop_gained |
HIGH |
518G>A |
Trp173* |
M0033364 |
CAOHNBLL_00005 |
4708 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
495A>T |
Gly165Gly |
M0033365 |
CAOHNBLL_00005 |
4901 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
302T>G |
Val101Gly |
M0033366 |
CAOHNBLL_00005 |
5104 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
99A>G |
Pro33Pro |
M0033367 |
CAOHNBLL_00005 |
5107 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
96T>A |
Gly32Gly |
M0033368 |
CAOHNBLL_00005 |
5122 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
81A>G |
Ala27Ala |
M0033369 |
CAOHNBLL_00005 |
5201 |
4 |
Skin |
0.04 |
protein_coding |
start_lost |
HIGH |
2T>G |
Met1? |
M0033370 |
CAOHNBLL_00002 |
5237 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2692G>A |
None |
M0033371 |
CAOHNBLL_00006 |
5441 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1258A>T |
Ile420Leu |
M0033372 |
CAOHNBLL_00006 |
5505 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1194A>T |
Ile398Ile |
M0033373 |
CAOHNBLL_00006 |
5655 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1044C>T |
Asn348Asn |
M0033374 |
CAOHNBLL_00006 |
5682 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1017G>A |
Thr339Thr |
M0033375 |
CAOHNBLL_00006 |
5799 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
900A>G |
Pro300Pro |
M0033376 |
CAOHNBLL_00006 |
5820 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
879C>A |
Ser293Ser |
M0033377 |
CAOHNBLL_00006 |
5910 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
789A>G |
Gln263Gln |
M0033378 |
CAOHNBLL_00006 |
6014 |
7 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
685T>C |
Ser229Pro |
M0033379 |
CAOHNBLL_00006 |
6150 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
549T>C |
Pro183Pro |
M0033380 |
CAOHNBLL_00006 |
6180 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
519A>G |
Leu173Leu |
M0033381 |
CAOHNBLL_00002 |
6790 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4245C>T |
None |
M0033382 |
CAOHNBLL_00002 |
6965 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4420T>C |
None |
M0033383 |
CAOHNBLL_00007 |
7097 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
338T>A |
Ile113Asn |
M0033384 |
CAOHNBLL_00007 |
7138 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
297G>A |
Leu99Leu |
M0033385 |
CAOHNBLL_00007 |
7186 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
249T>C |
Leu83Leu |
M0033386 |
CAOHNBLL_00002 |
7539 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4994G>A |
None |
M0033387 |
CAOHNBLL_00008 |
7634 |
7 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
15T>A |
Ile5Ile |
M0033388 |
CAOHNBLL_00008 |
7716 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
97A>T |
Thr33Ser |
M0033389 |
CAOHNBLL_00008 |
7811 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
192C>T |
Phe64Phe |
M0033390 |
CAOHNBLL_00008 |
7904 |
13 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
285G>C |
Leu95Phe |
M0033391 |
CAOHNBLL_00008 |
7937 |
8 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
318G>C |
Glu106Asp |
M0033392 |
CAOHNBLL_00008 |
7993 |
9 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
374C>T |
Thr125Ile |
M0033393 |
CAOHNBLL_00008 |
8204 |
8 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
585C>T |
Asp195Asp |
M0033394 |
CAOHNBLL_00008 |
8284 |
7 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
665C>A |
Ala222Glu |
M0033395 |
CAOHNBLL_00008 |
8314 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
695T>A |
Leu232Gln |
M0033396 |
CAOHNBLL_00008 |
8338 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
719A>G |
Glu240Gly |
M0033397 |
CAOHNBLL_00008 |
8486 |
8 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
867G>A |
Lys289Lys |
M0033398 |
CAOHNBLL_00005 |
8609 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3407G>A |
None |
M0033399 |
CAOHNBLL_00005 |
8615 |
7 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3413T>A |
None |
M0033400 |
CAOHNBLL_00009 |
8744 |
7 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
567A>C |
Glu189Asp |
M0033401 |
CAOHNBLL_00009 |
8784 |
7 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
527T>C |
Val176Ala |
M0033402 |
CAOHNBLL_00009 |
8791 |
7 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
520A>G |
Lys174Glu |
M0033403 |
CAOHNBLL_00009 |
9029 |
7 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
282T>C |
Ile94Ile |
M0033404 |
CAOHNBLL_00009 |
9152 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
159T>C |
Gly53Gly |
M0033405 |
CAOHNBLL_00009 |
9179 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
132T>C |
Gly44Gly |
M0033406 |
CAOHNBLL_00010 |
9868 |
7 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
498A>G |
Ser166Ser |
M0033407 |
CAOHNBLL_00010 |
9922 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
444A>C |
Thr148Thr |
M0033408 |
CAOHNBLL_00010 |
10003 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
363C>T |
Tyr121Tyr |
M0033409 |
CAOHNBLL_00010 |
10130 |
7 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
236G>A |
Ser79Asn |
M0033410 |
CAOHNBLL_00010 |
10318 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
48A>T |
Ile16Ile |
M0033411 |
CAOHNBLL_00010 |
10348 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
18A>G |
Lys6Lys |
M0033412 |
CAOHNBLL_00006 |
10457 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3759C>T |
None |
M0033413 |
CAOHNBLL_00011 |
10502 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
8T>C |
Val3Ala |
M0033414 |
CAOHNBLL_00011 |
10578 |
7 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
84G>A |
Glu28Glu |
M0033415 |
CAOHNBLL_00011 |
10652 |
7 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
158G>A |
Gly53Asp |
M0033416 |
CAOHNBLL_00011 |
10851 |
7 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
357T>A |
Ser119Arg |
M0033417 |
CAOHNBLL_00011 |
10860 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
366T>C |
Ile122Ile |
M0033418 |
CAOHNBLL_00011 |
11028 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
534G>A |
Lys178Lys |
M0033419 |
CAOHNBLL_00011 |
11052 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
558A>T |
Gly186Gly |
M0033420 |
CAOHNBLL_00011 |
11061 |
7 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
567C>A |
Arg189Arg |
M0033421 |
CAOHNBLL_00011 |
11088 |
7 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
594A>C |
Leu198Leu |
M0033422 |
CAOHNBLL_00012 |
11203 |
7 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
39T>C |
Thr13Thr |
M0033423 |
CAOHNBLL_00012 |
11296 |
11 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
132C>T |
Ile44Ile |
M0033424 |
CAOHNBLL_00012 |
11588 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
424T>A |
Ser142Thr |
M0033425 |
CAOHNBLL_00012 |
11608 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
444A>G |
Ala148Ala |
M0033426 |
CAOHNBLL_00012 |
11744 |
7 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
580A>G |
Thr194Ala |
M0033427 |
CAOHNBLL_00012 |
11762 |
7 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
598T>C |
Tyr200His |
M0033428 |
CAOHNBLL_00012 |
12097 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
933G>T |
Lys311Asn |
M0033429 |
CAOHNBLL_00012 |
12133 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
969T>C |
Val323Val |
M0033430 |
CAOHNBLL_00012 |
12139 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
975C>T |
His325His |
M0033431 |
CAOHNBLL_00012 |
12220 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1056C>T |
Leu352Leu |
M0033432 |
CAOHNBLL_00012 |
12268 |
7 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1104C>A |
Thr368Thr |
M0033433 |
CAOHNBLL_00012 |
12296 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1132C>T |
Leu378Leu |
M0033434 |
CAOHNBLL_00012 |
12310 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1146A>T |
Ala382Ala |
M0033435 |
CAOHNBLL_00012 |
12316 |
7 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1152G>T |
Lys384Asn |
M0033436 |
CAOHNBLL_00012 |
12344 |
7 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1180A>G |
Thr394Ala |
M0033437 |
CAOHNBLL_00012 |
12352 |
7 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1188A>T |
Arg396Ser |
M0033438 |
CAOHNBLL_00012 |
12392 |
8 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1228C>T |
Leu410Leu |
M0033439 |
CAOHNBLL_00012 |
12439 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1275G>A |
Lys425Lys |
M0033440 |
CAOHNBLL_00013 |
12705 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1440T>C |
Ala480Ala |
M0033441 |
CAOHNBLL_00013 |
12741 |
12 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1404A>C |
Gly468Gly |
M0033442 |
CAOHNBLL_00013 |
12781 |
7 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1364A>G |
Asp455Gly |
M0033443 |
CAOHNBLL_00013 |
12804 |
7 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1341C>T |
Arg447Arg |
M0033444 |
CAOHNBLL_00013 |
12863 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1282C>T |
Leu428Leu |
M0033445 |
CAOHNBLL_00013 |
13028 |
7 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1117A>G |
Ile373Val |
M0033446 |
CAOHNBLL_00013 |
13215 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
930C>T |
Gly310Gly |
M0033447 |
CAOHNBLL_00013 |
13263 |
7 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
882T>A |
Gly294Gly |
M0033448 |
CAOHNBLL_00013 |
13356 |
7 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
789C>T |
Gly263Gly |
M0033449 |
CAOHNBLL_00013 |
13727 |
11 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
418C>G |
Leu140Val |
M0033450 |
CAOHNBLL_00013 |
13923 |
8 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
222T>C |
Gly74Gly |
M0033451 |
CAOHNBLL_00042 |
45466 |
17 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
621C>A |
Asp207Glu |
M0033452 |
CAOHNBLL_00008 |
8047 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
428G>T |
Cys143Phe |
M0033453 |
CAOHNBLL_00008 |
8135 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
516C>T |
Cys172Cys |
M0033454 |
CAOHNBLL_00034 |
42854 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4348G>A |
None |
M0033455 |
CAOHNBLL_00039 |
43015 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
18A>T |
Ala6Ala |
M0033456 |
CAOHNBLL_00039 |
43102 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
105T>C |
Tyr35Tyr |
M0033457 |
CAOHNBLL_00034 |
43367 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4861C>A |
None |
M0033458 |
CAOHNBLL_00034 |
43391 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4885T>C |
None |
M0033459 |
CAOHNBLL_00034 |
43399 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4893T>G |
None |
M0033460 |
CAOHNBLL_00040 |
45403 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-602A>C |
None |
M0033461 |
CAOHNBLL_00040 |
45443 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-642A>G |
None |
M0033462 |
CAOHNBLL_00040 |
45454 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-653T>C |
None |
M0033463 |
CAOHNBLL_00042 |
45880 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
207A>T |
Gly69Gly |
M0033464 |
CAOHNBLL_00042 |
45964 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
123A>G |
Ala41Ala |
M0033465 |
CAOHNBLL_00040 |
46088 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1287C>T |
None |
M0033466 |
CAOHNBLL_00040 |
46185 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1384T>C |
None |
M0033467 |
CAOHNBLL_00043 |
46357 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
106C>T |
Leu36Leu |
M0033468 |
CAOHNBLL_00022 |
24634 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1600A>T |
Met534Leu |
M0033469 |
CAOHNBLL_00022 |
24914 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1320A>C |
Gly440Gly |
M0033470 |
CAOHNBLL_00022 |
24982 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1252G>A |
Glu418Lys |
M0033471 |
CAOHNBLL_00029 |
31929 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
495A>T |
Ser165Ser |
M0033472 |
CAOHNBLL_00029 |
31944 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
480A>T |
Lys160Asn |
M0033473 |
CAOHNBLL_00029 |
31948 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
476A>G |
Asp159Gly |
M0033474 |
CAOHNBLL_00029 |
31998 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
426T>C |
Ser142Ser |
M0033475 |
CAOHNBLL_00029 |
32160 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
264T>A |
Thr88Thr |
M0033476 |
CAOHNBLL_00029 |
32196 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
228G>A |
Lys76Lys |
M0033477 |
CAOHNBLL_00029 |
32217 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
207C>T |
Val69Val |
M0033478 |
CAOHNBLL_00030 |
32657 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1029A>G |
Thr343Thr |
M0033479 |
CAOHNBLL_00030 |
32663 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1023C>T |
Asp341Asp |
M0033480 |
CAOHNBLL_00030 |
32698 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
988T>A |
Leu330Ile |
M0033481 |
CAOHNBLL_00030 |
32893 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
793A>G |
Ile265Val |
M0033482 |
CAOHNBLL_00030 |
32909 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
777A>T |
Leu259Phe |
M0033483 |
CAOHNBLL_00030 |
33440 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
246A>T |
Val82Val |
M0033484 |
CAOHNBLL_00031 |
34041 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1170T>C |
Asn390Asn |
M0033485 |
CAOHNBLL_00031 |
34358 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
853T>C |
Leu285Leu |
M0033486 |
CAOHNBLL_00031 |
34443 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
768A>G |
Ala256Ala |
M0033487 |
CAOHNBLL_00031 |
34569 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
642G>A |
Pro214Pro |
M0033488 |
CAOHNBLL_00031 |
34578 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
633C>T |
Ile211Ile |
M0033489 |
CAOHNBLL_00031 |
34611 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
600T>C |
Asn200Asn |
M0033490 |
CAOHNBLL_00031 |
34637 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
574G>A |
Gly192Ser |
M0033491 |
CAOHNBLL_00031 |
34685 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
526A>G |
Lys176Glu |
M0033492 |
CAOHNBLL_00031 |
34982 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
229A>G |
Ile77Val |
M0033493 |
CAOHNBLL_00027 |
30285 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
829G>A |
Val277Ile |
M0033494 |
CAOHNBLL_00003 |
2717 |
11 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
489T>A |
Asn163Lys |
M0033495 |
CAOHNBLL_00003 |
2719 |
11 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
487A>G |
Asn163Asp |
M0033496 |
CAOHNBLL_00022 |
25653 |
3 |
Skin |
0.03 |
protein_coding |
stop_gained |
HIGH |
581T>A |
Leu194* |
M0033497 |
CAOHNBLL_00057 |
62705 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
23A>C |
Asn8Thr |
M0033498 |
CAOHNBLL_00057 |
62787 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
105A>G |
Leu35Leu |
M0033499 |
CAOHNBLL_00057 |
63006 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
324G>A |
Glu108Glu |
M0033500 |
CAOHNBLL_00057 |
63039 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
357T>G |
Gly119Gly |
M0033501 |
CAOHNBLL_00057 |
63501 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
819C>A |
Phe273Leu |
M0033502 |
CAOHNBLL_00057 |
63598 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
916A>G |
Lys306Glu |
M0033503 |
CAOHNBLL_00057 |
63687 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1005C>T |
Ile335Ile |
M0033504 |
CAOHNBLL_00058 |
64378 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
431A>T |
Lys144Ile |
M0033505 |
CAOHNBLL_00058 |
64379 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
430A>G |
Lys144Glu |
M0033506 |
CAOHNBLL_00055 |
64938 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3415A>T |
None |
M0033507 |
CAOHNBLL_00059 |
65216 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
585T>A |
Ala195Ala |
M0033508 |
CAOHNBLL_00059 |
65302 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
499G>T |
Val167Leu |
M0033509 |
CAOHNBLL_00059 |
65333 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
468A>G |
Leu156Leu |
M0033510 |
CAOHNBLL_00055 |
65847 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4324G>A |
None |
M0033511 |
CAOHNBLL_00060 |
66027 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
96T>G |
Ile32Met |
M0033512 |
CAOHNBLL_00061 |
66458 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
217A>G |
Lys73Glu |
M0033513 |
CAOHNBLL_00056 |
66780 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4417C>T |
None |
M0033514 |
CAOHNBLL_00062 |
66865 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
925A>T |
Ile309Leu |
M0033515 |
CAOHNBLL_00062 |
67130 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
660T>C |
Tyr220Tyr |
M0033516 |
CAOHNBLL_00062 |
67394 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
396C>T |
His132His |
M0033517 |
CAOHNBLL_00058 |
67809 |
5 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3001A>T |
None |
M0033518 |
CAOHNBLL_00065 |
70587 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1239T>A |
Asp413Glu |
M0033519 |
CAOHNBLL_00052 |
62470 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4816T>C |
None |
M0033520 |
CAOHNBLL_00055 |
64867 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3344A>G |
None |
M0033521 |
CAOHNBLL_00055 |
64895 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3372C>G |
None |
M0033522 |
CAOHNBLL_00055 |
64915 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3392T>C |
None |
M0033523 |
CAOHNBLL_00059 |
65411 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
390T>C |
Val130Val |
M0033524 |
CAOHNBLL_00068 |
71787 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
39A>G |
Glu13Glu |
M0033525 |
CAOHNBLL_00051 |
53693 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
289T>C |
Ser97Pro |
M0033526 |
CAOHNBLL_00052 |
54244 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
3411C>T |
Thr1137Thr |
M0033527 |
CAOHNBLL_00052 |
54438 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
3217A>C |
Lys1073Gln |
M0033528 |
CAOHNBLL_00052 |
57051 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
604A>G |
Thr202Ala |
M0033529 |
CAOHNBLL_00052 |
57189 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
466A>C |
Asn156His |
M0033530 |
CAOHNBLL_00002 |
856 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1690T>G |
Phe564Val |
M0033531 |
CAOHNBLL_00002 |
1364 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1182G>T |
Ser394Ser |
M0033532 |
CAOHNBLL_00002 |
1511 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1035A>T |
Val345Val |
M0033533 |
CAOHNBLL_00002 |
2066 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
480T>G |
Asp160Glu |
M0033534 |
CAOHNBLL_00002 |
2229 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
317T>G |
Ile106Arg |
M0033535 |
CAOHNBLL_00002 |
2306 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
240A>T |
Glu80Asp |
M0033536 |
CAOHNBLL_00011 |
11004 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
510T>C |
Phe170Phe |
M0033537 |
CAOHNBLL_00012 |
11309 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
145G>A |
Glu49Lys |
M0033538 |
CAOHNBLL_00010 |
14386 |
6 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4021C>A |
None |
M0033539 |
CAOHNBLL_00014 |
14576 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
88A>C |
Lys30Gln |
M0033540 |
CAOHNBLL_00014 |
15073 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
585A>G |
Ile195Met |
M0033541 |
CAOHNBLL_00014 |
15379 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
891A>G |
Ile297Met |
M0033542 |
CAOHNBLL_00014 |
15463 |
6 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
975T>C |
Gly325Gly |
M0033543 |
CAOHNBLL_00014 |
15464 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
976T>C |
Tyr326His |
M0033544 |
CAOHNBLL_00015 |
16010 |
6 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1280A>G |
Asn427Ser |
M0033545 |
CAOHNBLL_00052 |
54871 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2784C>T |
Asn928Asn |
M0033546 |
CAOHNBLL_00052 |
54922 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2733A>G |
Glu911Glu |
M0033547 |
CAOHNBLL_00052 |
54934 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2721T>C |
Ser907Ser |
M0033548 |
CAOHNBLL_00052 |
54955 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2700C>T |
Gly900Gly |
M0033549 |
CAOHNBLL_00052 |
54982 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2673C>T |
Gly891Gly |
M0033550 |
CAOHNBLL_00052 |
55270 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2385C>T |
Phe795Phe |
M0033551 |
CAOHNBLL_00052 |
55285 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2370G>A |
Pro790Pro |
M0033552 |
CAOHNBLL_00052 |
55669 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1986A>G |
Gly662Gly |
M0033553 |
CAOHNBLL_00052 |
55747 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1908T>C |
Ala636Ala |
M0033554 |
CAOHNBLL_00052 |
55753 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1902G>A |
Thr634Thr |
M0033555 |
CAOHNBLL_00052 |
55783 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1872G>A |
Lys624Lys |
M0033556 |
CAOHNBLL_00052 |
55828 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1827G>A |
Glu609Glu |
M0033557 |
CAOHNBLL_00052 |
56008 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1647A>G |
Ile549Met |
M0033558 |
CAOHNBLL_00052 |
56056 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1599T>C |
His533His |
M0033559 |
CAOHNBLL_00052 |
56098 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1557G>A |
Thr519Thr |
M0033560 |
CAOHNBLL_00052 |
56542 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1113A>T |
Val371Val |
M0033561 |
CAOHNBLL_00052 |
56773 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
882A>T |
Leu294Phe |
M0033562 |
CAOHNBLL_00052 |
56922 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
733A>G |
Thr245Ala |
M0033563 |
CAOHNBLL_00052 |
57163 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
492T>A |
Val164Val |
M0033564 |
CAOHNBLL_00052 |
57379 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
276G>A |
Arg92Arg |
M0033565 |
CAOHNBLL_00052 |
57466 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
189T>C |
Asn63Asn |
M0033566 |
CAOHNBLL_00051 |
57840 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3859C>G |
None |
M0033567 |
CAOHNBLL_00053 |
57875 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
935C>T |
Ala312Val |
M0033568 |
CAOHNBLL_00053 |
57904 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
906A>G |
Ile302Met |
M0033569 |
CAOHNBLL_00053 |
57937 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
873C>T |
His291His |
M0033570 |
CAOHNBLL_00053 |
57946 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
864C>T |
Asn288Asn |
M0033571 |
CAOHNBLL_00053 |
57958 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
852C>T |
Leu284Leu |
M0033572 |
CAOHNBLL_00053 |
58009 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
801C>T |
Asn267Asn |
M0033573 |
CAOHNBLL_00053 |
58010 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
800A>C |
Asn267Thr |
M0033574 |
CAOHNBLL_00053 |
58012 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
798G>A |
Glu266Glu |
M0033575 |
CAOHNBLL_00053 |
58050 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
760G>A |
Val254Ile |
M0033576 |
CAOHNBLL_00053 |
58071 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
739C>T |
Leu247Leu |
M0033577 |
CAOHNBLL_00053 |
58096 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
714A>G |
Leu238Leu |
M0033578 |
CAOHNBLL_00053 |
58165 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
645C>T |
Ser215Ser |
M0033579 |
CAOHNBLL_00053 |
58170 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
640T>C |
Leu214Leu |
M0033580 |
CAOHNBLL_00053 |
58171 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
639G>T |
Lys213Asn |
M0033581 |
CAOHNBLL_00053 |
58384 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
426T>G |
Pro142Pro |
M0033582 |
CAOHNBLL_00053 |
58423 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
387T>C |
Ala129Ala |
M0033583 |
CAOHNBLL_00053 |
58426 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
384A>G |
Val128Val |
M0033584 |
CAOHNBLL_00053 |
58432 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
378C>T |
Ala126Ala |
M0033585 |
CAOHNBLL_00053 |
58586 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
224T>A |
Leu75Gln |
M0033586 |
CAOHNBLL_00055 |
59505 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2019T>C |
Cys673Cys |
M0033587 |
CAOHNBLL_00055 |
59796 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1728C>T |
Ile576Ile |
M0033588 |
CAOHNBLL_00055 |
59823 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1701A>G |
Gly567Gly |
M0033589 |
CAOHNBLL_00055 |
59909 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1615A>G |
Lys539Glu |
M0033590 |
CAOHNBLL_00055 |
59922 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1602G>T |
Leu534Phe |
M0033591 |
CAOHNBLL_00055 |
60004 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1520G>A |
Arg507His |
M0033592 |
CAOHNBLL_00055 |
60102 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1422T>A |
Ala474Ala |
M0033593 |
CAOHNBLL_00055 |
60317 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1207G>T |
Gly403Cys |
M0033594 |
CAOHNBLL_00055 |
60585 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
939T>G |
Gly313Gly |
M0033595 |
CAOHNBLL_00055 |
60878 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
646C>G |
His216Asp |
M0033596 |
CAOHNBLL_00055 |
60942 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
582A>G |
Arg194Arg |
M0033597 |
CAOHNBLL_00055 |
61044 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
480T>C |
Cys160Cys |
M0033598 |
CAOHNBLL_00055 |
61266 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
258C>T |
Asp86Asp |
M0033599 |
CAOHNBLL_00055 |
61268 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
256G>A |
Asp86Asn |
M0033600 |
CAOHNBLL_00055 |
61289 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
235G>A |
Asp79Asn |
M0033601 |
CAOHNBLL_00052 |
61526 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3872G>T |
None |
M0033602 |
CAOHNBLL_00056 |
61734 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
630A>G |
Lys210Lys |
M0033603 |
CAOHNBLL_00056 |
62118 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
246C>T |
His82His |
M0033604 |
CAOHNBLL_00056 |
62208 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
156G>A |
Thr52Thr |
M0033605 |
CAOHNBLL_00031 |
39931 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4721T>C |
None |
M0033606 |
CAOHNBLL_00037 |
41362 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
96T>C |
Ile32Ile |
M0033607 |
CAOHNBLL_00037 |
41395 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
129A>C |
Ser43Ser |
M0033608 |
CAOHNBLL_00037 |
41943 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
677C>A |
Pro226His |
M0033609 |
CAOHNBLL_00034 |
42045 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3539A>T |
None |
M0033610 |
CAOHNBLL_00038 |
42347 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
150C>T |
Asn50Asn |
M0033611 |
CAOHNBLL_00034 |
42711 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4205T>A |
None |
M0033612 |
CAOHNBLL_00034 |
42750 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4244G>C |
None |
M0033613 |
CAOHNBLL_00034 |
42769 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4263G>T |
None |
M0033614 |
CAOHNBLL_00034 |
42775 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4269T>A |
None |
M0033615 |
CAOHNBLL_00034 |
42783 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4277C>T |
None |
M0033616 |
CAOHNBLL_00034 |
42828 |
4 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4322T>C |
None |
M0033617 |
CAOHNBLL_00034 |
42974 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4468A>T |
None |
M0033618 |
CAOHNBLL_00040 |
43896 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
906T>C |
Phe302Phe |
M0033619 |
CAOHNBLL_00040 |
43902 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
900C>G |
Thr300Thr |
M0033620 |
CAOHNBLL_00040 |
44105 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
697T>C |
Leu233Leu |
M0033621 |
CAOHNBLL_00040 |
44295 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
507C>T |
Phe169Phe |
M0033622 |
CAOHNBLL_00041 |
45171 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
177G>A |
Leu59Leu |
M0033623 |
CAOHNBLL_00041 |
45174 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
174T>C |
Asn58Asn |
M0033624 |
CAOHNBLL_00041 |
45285 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
63C>T |
Ala21Ala |
M0033625 |
CAOHNBLL_00043 |
46515 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
264A>G |
Glu88Glu |
M0033626 |
CAOHNBLL_00043 |
46669 |
10 |
Skin |
0.09 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
418T>A |
Ter140Lysext*? |
M0033627 |
CAOHNBLL_00040 |
46878 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2077A>T |
None |
M0033628 |
CAOHNBLL_00044 |
47039 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
51C>T |
Ser17Ser |
M0033629 |
CAOHNBLL_00044 |
47122 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
134A>G |
Asp45Gly |
M0033630 |
CAOHNBLL_00044 |
47297 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
309T>A |
Asp103Glu |
M0033631 |
CAOHNBLL_00040 |
47415 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2614C>T |
None |
M0033632 |
CAOHNBLL_00040 |
47463 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2662T>A |
None |
M0033633 |
CAOHNBLL_00040 |
47503 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2702A>T |
None |
M0033634 |
CAOHNBLL_00045 |
47509 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1170T>C |
Asp390Asp |
M0033635 |
CAOHNBLL_00045 |
47534 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1145T>A |
Val382Glu |
M0033636 |
CAOHNBLL_00045 |
47539 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1140G>A |
Glu380Glu |
M0033637 |
CAOHNBLL_00045 |
47575 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1104T>C |
Ile368Ile |
M0033638 |
CAOHNBLL_00045 |
47771 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
908T>G |
Phe303Cys |
M0033639 |
CAOHNBLL_00045 |
47787 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
892C>T |
Leu298Leu |
M0033640 |
CAOHNBLL_00045 |
48196 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
483T>A |
Val161Val |
M0033641 |
CAOHNBLL_00045 |
48283 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
396A>G |
Gly132Gly |
M0033642 |
CAOHNBLL_00045 |
48295 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
384A>T |
Gly128Gly |
M0033643 |
CAOHNBLL_00045 |
48310 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
369G>A |
Thr123Thr |
M0033644 |
CAOHNBLL_00045 |
48439 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
240G>A |
Val80Val |
M0033645 |
CAOHNBLL_00045 |
48490 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
189C>T |
Tyr63Tyr |
M0033646 |
CAOHNBLL_00040 |
48884 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4083A>T |
None |
M0033647 |
CAOHNBLL_00047 |
49858 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
851A>G |
Asn284Ser |
M0033648 |
CAOHNBLL_00050 |
51872 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
591G>A |
Gly197Gly |
M0033649 |
CAOHNBLL_00050 |
51944 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
519C>T |
Asn173Asn |
M0033650 |
CAOHNBLL_00050 |
52199 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
264A>T |
Leu88Leu |
M0033651 |
CAOHNBLL_00050 |
52229 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
234C>T |
Asp78Asp |
M0033652 |
CAOHNBLL_00050 |
52253 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
210C>A |
Ser70Ser |
M0033653 |
CAOHNBLL_00050 |
52274 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
189A>T |
Ile63Ile |
M0033654 |
CAOHNBLL_00051 |
52713 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1269C>T |
Thr423Thr |
M0033655 |
CAOHNBLL_00051 |
53225 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
757A>G |
Thr253Ala |
M0033656 |
CAOHNBLL_00051 |
53457 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
525A>G |
Thr175Thr |
M0033657 |
CAOHNBLL_00051 |
53508 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
474C>T |
Asp158Asp |
M0033658 |
CAOHNBLL_00051 |
53529 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
453A>C |
Gly151Gly |
M0033659 |
CAOHNBLL_00051 |
53586 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
396A>T |
Ser132Ser |
M0033660 |
CAOHNBLL_00051 |
53670 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
312G>A |
Glu104Glu |
M0033661 |
CAOHNBLL_00051 |
53838 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
144A>T |
Pro48Pro |
M0033662 |
CAOHNBLL_00051 |
53844 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
138G>A |
Thr46Thr |
M0033663 |
CAOHNBLL_00051 |
53850 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
132G>A |
Val44Val |
M0033664 |
CAOHNBLL_00051 |
53874 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
108A>T |
Ala36Ala |
M0033665 |
CAOHNBLL_00051 |
53928 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
54A>T |
Gly18Gly |
M0033666 |
CAOHNBLL_00051 |
53952 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
30A>G |
Val10Val |
M0033667 |
CAOHNBLL_00052 |
54151 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
3504C>T |
Ile1168Ile |
M0033668 |
CAOHNBLL_00015 |
15847 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1443A>G |
Val481Val |
M0033669 |
CAOHNBLL_00015 |
16072 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1218T>A |
Ser406Ser |
M0033670 |
CAOHNBLL_00015 |
16177 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1113A>G |
Leu371Leu |
M0033671 |
CAOHNBLL_00015 |
16452 |
5 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
838C>A |
Gln280Lys |
M0033672 |
CAOHNBLL_00015 |
17149 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
141T>G |
Val47Val |
M0033673 |
CAOHNBLL_00016 |
17707 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
67A>G |
Asn23Asp |
M0033674 |
CAOHNBLL_00016 |
17709 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
69T>G |
Asn23Lys |
M0033675 |
CAOHNBLL_00016 |
17928 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
288A>G |
Ala96Ala |
M0033676 |
CAOHNBLL_00016 |
18363 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
723T>A |
Gly241Gly |
M0033677 |
CAOHNBLL_00016 |
18756 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1116T>C |
Ile372Ile |
M0033678 |
CAOHNBLL_00016 |
19027 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1387C>T |
Leu463Leu |
M0033679 |
CAOHNBLL_00016 |
19245 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1605T>A |
Val535Val |
M0033680 |
CAOHNBLL_00022 |
28561 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2328T>A |
None |
M0033681 |
CAOHNBLL_00025 |
29265 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
667C>A |
Pro223Thr |
M0033682 |
CAOHNBLL_00026 |
29682 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
373C>T |
His125Tyr |
M0033683 |
CAOHNBLL_00026 |
29778 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
277A>G |
Asn93Asp |
M0033684 |
CAOHNBLL_00026 |
29926 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
129A>T |
Thr43Thr |
M0033685 |
CAOHNBLL_00026 |
29935 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
120T>C |
Phe40Phe |
M0033686 |
CAOHNBLL_00026 |
29941 |
5 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
114T>C |
Ala38Ala |
M0033687 |
CAOHNBLL_00027 |
30115 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
999G>A |
Glu333Glu |
M0033688 |
CAOHNBLL_00027 |
30363 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
751C>T |
Leu251Leu |
M0033689 |
CAOHNBLL_00027 |
30649 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
465T>C |
Gly155Gly |
M0033690 |
CAOHNBLL_00027 |
30652 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
462C>T |
Ser154Ser |
M0033691 |
CAOHNBLL_00027 |
30712 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
402A>C |
Thr134Thr |
M0033692 |
CAOHNBLL_00027 |
30766 |
4 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
348G>A |
Gly116Gly |
M0033693 |
CAOHNBLL_00027 |
30912 |
4 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
202A>G |
Lys68Glu |
M0033694 |
CAOHNBLL_00027 |
30925 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
189C>A |
Ile63Ile |
M0033695 |
CAOHNBLL_00027 |
31110 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
4G>A |
Glu2Lys |
M0033696 |
CAOHNBLL_00022 |
31127 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4894T>C |
None |
M0033697 |
CAOHNBLL_00022 |
31145 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4912A>T |
None |
M0033698 |
CAOHNBLL_00002 |
883 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1663C>A |
Arg555Arg |
M0033699 |
CAOHNBLL_00002 |
1052 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1494T>A |
Pro498Pro |
M0033700 |
CAOHNBLL_00015 |
20147 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2858A>T |
None |
M0033701 |
CAOHNBLL_00015 |
20157 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2868G>A |
None |
M0033702 |
CAOHNBLL_00015 |
20166 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2877A>T |
None |
M0033703 |
CAOHNBLL_00015 |
20235 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2946G>C |
None |
M0033704 |
CAOHNBLL_00015 |
20291 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3002A>T |
None |
M0033705 |
CAOHNBLL_00018 |
21051 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1420T>C |
Cys474Arg |
M0033706 |
CAOHNBLL_00018 |
21241 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1230G>A |
Glu410Glu |
M0033707 |
CAOHNBLL_00018 |
21496 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
975C>T |
His325His |
M0033708 |
CAOHNBLL_00018 |
21790 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
681G>A |
Glu227Glu |
M0033709 |
CAOHNBLL_00017 |
22605 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2630C>A |
None |
M0033710 |
CAOHNBLL_00017 |
22713 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2738G>A |
None |
M0033711 |
CAOHNBLL_00017 |
22748 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2773T>G |
None |
M0033712 |
CAOHNBLL_00017 |
22839 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2864A>G |
None |
M0033713 |
CAOHNBLL_00019 |
22935 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
454G>T |
Ala152Ser |
M0033714 |
CAOHNBLL_00019 |
22951 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
438T>G |
Gly146Gly |
M0033715 |
CAOHNBLL_00019 |
23230 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
159G>A |
Glu53Glu |
M0033716 |
CAOHNBLL_00019 |
23380 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
9A>G |
Glu3Glu |
M0033717 |
CAOHNBLL_00017 |
23391 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3416A>G |
None |
M0033718 |
CAOHNBLL_00017 |
23461 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3486C>T |
None |
M0033719 |
CAOHNBLL_00017 |
23480 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3505C>T |
None |
M0033720 |
CAOHNBLL_00020 |
23622 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
72G>A |
Leu24Leu |
M0033721 |
CAOHNBLL_00021 |
23842 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
132G>T |
Val44Val |
M0033722 |
CAOHNBLL_00021 |
23941 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
231T>C |
Thr77Thr |
M0033723 |
CAOHNBLL_00014 |
14620 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
132A>T |
Ala44Ala |
M0033724 |
CAOHNBLL_00014 |
14731 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
243T>C |
Tyr81Tyr |
M0033725 |
CAOHNBLL_00014 |
14779 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
291A>T |
Leu97Phe |
M0033726 |
CAOHNBLL_00014 |
15244 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
756C>A |
His252Gln |
M0033727 |
CAOHNBLL_00014 |
15274 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
786T>C |
Asn262Asn |
M0033728 |
CAOHNBLL_00014 |
15539 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1051C>A |
His351Asn |
M0033729 |
CAOHNBLL_00014 |
15567 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1079G>C |
Ser360Thr |
M0033730 |
CAOHNBLL_00014 |
15568 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1080T>C |
Ser360Ser |
M0033731 |
CAOHNBLL_00015 |
16635 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
655A>C |
Lys219Gln |
M0033732 |
CAOHNBLL_00013 |
17567 |
3 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3423C>A |
None |
M0033733 |
CAOHNBLL_00016 |
17835 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
195C>T |
Asp65Asp |
M0033734 |
CAOHNBLL_00021 |
24355 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
645T>A |
Val215Val |
M0033735 |
CAOHNBLL_00021 |
24357 |
3 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
647C>T |
Ala216Val |
M0033736 |
CAOHNBLL_00021 |
24370 |
3 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
660T>C |
Ile220Ile |
Analysis of virulence factors contributing to bacterial pathogenicity
This table presents virulence factors identified within the plasmid cluster.
Note: Virulence factor analysis was performed using VFDB. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known virulence factors are listed.
Gene Name |
vf_gene_id |
vf_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
vf_category |
gene_description |
condition |
Analysis of biocide and heavy metal resistance genes to assess antimicrobial risk and environmental impact
This table presents biocides and heavy metals resistance genes identified within the plasmid cluster.
Note: Analyzing biocide and heavy metal resistance genes based on BacMet to evaluate bacterial resistance risk and the potential impact of environmental heavy metal contamination. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, E-value < 1e-5) to known biocide and heavy metal resistance genes are listed.
Gene Name |
compound |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
group |
Analyzing antimicrobial resistance genes to assess bacterial resistance to antibiotics and other antimicrobial agents
This table presents antimicrobial resistance genes identified within the plasmid cluster.
Note: Antimicrobial resistance was performed using CARD. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known antimicrobial resistance genes are listed.
Gene Name |
aro_accession |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
drug_class |
amr_gene_family |
resistance_mechanism |
Analysis of pathogenicity genes to explore pathogen-host interactions
This table presents host pathogen-host interactions within the plasmid cluster.
Note: Analyzing pathogenicity-related genes using PHI-base to understand pathogen virulence mechanisms and their impact on host interactions. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e-5) to known pathogenicity-related genes are listed.
Gene Name |
phi_molconn_id |
host gene_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
host_descripton |
disease_name |
function |
phenotype_of_mutant |
CAOHNBLL_00013 |
PHI:6190 |
Mqo |
80.3 |
1.2e-237 |
1 |
492 |
1.0000 |
1.0000 |
rodents |
skin infection; food poisoning; respiratory disease |
malate-quinone oxidoreductases |
reduced virulence |
CAOHNBLL_00052 |
PHI:124149 |
narG |
86.4 |
0 |
1 |
1227 |
1.0000 |
1.0000 |
rodents |
skin infection; food poisoning; respiratory disease |
nitrate reductase |
reduced virulence |
Analyzing carbohydrate-active enzyme genes to uncover mechanisms of nutrient degradation
This table presents carbohydrate-active enzyme genes identified within the plasmid cluster.
Note: Annotation of carbohydrate-active enzyme genes was performed using CAZy to explore mechanisms of nutrient breakdown and utilization. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known CAZyme genes are listed.
Gene Name |
cazy_id |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
CAOHNBLL_00014 |
QKH90370.1|GT4 |
100 |
6.83e-271 |
1 |
381 |
1 |
1 |
CAOHNBLL_00018 |
QKH90366.1|GT2 |
100 |
0 |
1 |
722 |
1 |
1 |
Analyzing transport proteins to understand bacterial strategies for substrate uptake and detoxification
This table presents transport proteins within the plasmid cluster.
Note: Investigation of transport proteins based on TCDB to uncover bacterial mechanisms of substrate transport and environmental detoxification. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known transport protein entries are listed.
Gene Name |
tcid |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
class_field |
class_term |
subclass |
subclass_term |
family |
family_term |
CAOHNBLL_00005 |
2.A.1.2.100 |
72.2 |
3.7e-155 |
15 |
405 |
0.9607 |
0.9751 |
2 |
Electrochemical Potential-driven Transporters |
2.A |
Porters (uniporters, symporters, antiporters) |
2.A.1 |
The Major Facilitator Superfamily (MFS) |
CAOHNBLL_00045 |
2.A.1.8.15 |
73.5 |
3.2e-156 |
3 |
379 |
0.9667 |
0.9716 |
2 |
Electrochemical Potential-driven Transporters |
2.A |
Porters (uniporters, symporters, antiporters) |
2.A.1 |
The Major Facilitator Superfamily (MFS) |
CAOHNBLL_00071 |
2.A.1.3.61 |
78.7 |
5.2e-212 |
24 |
497 |
0.9423 |
0.9896 |
2 |
Electrochemical Potential-driven Transporters |
2.A |
Porters (uniporters, symporters, antiporters) |
2.A.1 |
The Major Facilitator Superfamily (MFS) |