Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C342 |
Reference Plasmid |
NC_021086.1 |
Reference Plasmid Size |
55585 |
Reference Plasmid GC Content |
0.62 |
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 |
M0085524 |
HHHBMLIK_00064 |
51074 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
138C>T |
Ile46Ile |
M0085525 |
HHHBMLIK_00065 |
51609 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
348T>C |
Gly116Gly |
M0085526 |
HHHBMLIK_00065 |
51816 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
141C>T |
Gly47Gly |
M0085527 |
HHHBMLIK_00065 |
51819 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
138T>A |
Pro46Pro |
M0085528 |
HHHBMLIK_00065 |
52072 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-116G>C |
None |
M0085529 |
HHHBMLIK_00065 |
52274 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-318T>C |
None |
M0085530 |
HHHBMLIK_00065 |
52284 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-328G>T |
None |
M0085531 |
HHHBMLIK_00065 |
53110 |
14 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1154T>C |
None |
M0085532 |
HHHBMLIK_00034 |
23813 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2418A>G |
Gln806Gln |
M0085533 |
HHHBMLIK_00034 |
23894 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2337A>G |
Lys779Lys |
M0085534 |
HHHBMLIK_00034 |
23897 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2334T>C |
Pro778Pro |
M0085535 |
HHHBMLIK_00034 |
23900 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2331C>T |
Asp777Asp |
M0085536 |
HHHBMLIK_00034 |
23903 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2328G>A |
Val776Val |
M0085537 |
HHHBMLIK_00034 |
24026 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2205C>T |
Thr735Thr |
M0085538 |
HHHBMLIK_00034 |
24029 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2202C>T |
Ile734Ile |
M0085539 |
HHHBMLIK_00034 |
24032 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2199T>C |
Leu733Leu |
M0085540 |
HHHBMLIK_00034 |
24041 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2190T>C |
Asn730Asn |
M0085541 |
HHHBMLIK_00034 |
24074 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2157T>C |
Ile719Ile |
M0085542 |
HHHBMLIK_00034 |
24107 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2124C>T |
His708His |
M0085543 |
HHHBMLIK_00034 |
24110 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2121T>C |
His707His |
M0085544 |
HHHBMLIK_00034 |
24113 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2118T>C |
Phe706Phe |
M0085545 |
HHHBMLIK_00034 |
24125 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2106T>C |
Ile702Ile |
M0085546 |
HHHBMLIK_00034 |
24230 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2001G>T |
Arg667Arg |
M0085547 |
HHHBMLIK_00034 |
24238 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1993C>T |
Leu665Leu |
M0085548 |
HHHBMLIK_00026 |
16337 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
102G>A |
Lys34Lys |
M0085549 |
HHHBMLIK_00027 |
16537 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
216G>A |
Ser72Ser |
M0085550 |
HHHBMLIK_00019 |
16923 |
13 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4059A>G |
None |
M0085551 |
HHHBMLIK_00029 |
19492 |
17 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
161C>G |
Ser54Trp |
M0085552 |
HHHBMLIK_00032 |
21470 |
22 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
137T>G |
Val46Gly |
M0085553 |
HHHBMLIK_00033 |
22350 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1365C>T |
Ile455Ile |
M0085554 |
HHHBMLIK_00033 |
22354 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1361T>C |
Val454Ala |
M0085555 |
HHHBMLIK_00033 |
22359 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1356C>G |
Gly452Gly |
M0085556 |
HHHBMLIK_00033 |
22360 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1355G>C |
Gly452Ala |
M0085557 |
HHHBMLIK_00033 |
22364 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1351A>G |
Arg451Gly |
M0085558 |
HHHBMLIK_00034 |
25994 |
19 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
237T>C |
Leu79Leu |
M0085559 |
HHHBMLIK_00037 |
27479 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
681C>T |
Thr227Thr |
M0085560 |
HHHBMLIK_00037 |
27572 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
588A>G |
Ser196Ser |
M0085561 |
HHHBMLIK_00034 |
28736 |
13 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2506A>G |
None |
M0085562 |
HHHBMLIK_00034 |
28758 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2528G>T |
None |
M0085563 |
HHHBMLIK_00034 |
28761 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2531G>T |
None |
M0085564 |
HHHBMLIK_00034 |
28763 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2533C>T |
None |
M0085565 |
HHHBMLIK_00038 |
29011 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
33G>A |
Glu11Glu |
M0085566 |
HHHBMLIK_00038 |
29290 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
312G>T |
Thr104Thr |
M0085567 |
HHHBMLIK_00034 |
29761 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3531C>A |
None |
M0085568 |
HHHBMLIK_00034 |
29795 |
13 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3565G>A |
None |
M0085569 |
HHHBMLIK_00034 |
29821 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3591C>A |
None |
M0085570 |
HHHBMLIK_00034 |
29889 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3659G>C |
None |
M0085571 |
HHHBMLIK_00039 |
29914 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
24A>T |
Arg8Ser |
M0085572 |
HHHBMLIK_00039 |
29917 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
27G>T |
Pro9Pro |
M0085573 |
HHHBMLIK_00039 |
30058 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
168G>A |
Gln56Gln |
M0085574 |
HHHBMLIK_00039 |
30073 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
183T>C |
Ile61Ile |
M0085575 |
HHHBMLIK_00039 |
30091 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
201G>A |
Ala67Ala |
M0085576 |
HHHBMLIK_00039 |
30130 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
240A>G |
Leu80Leu |
M0085577 |
HHHBMLIK_00039 |
30133 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
243T>C |
Arg81Arg |
M0085578 |
HHHBMLIK_00039 |
30157 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
267G>A |
Pro89Pro |
M0085579 |
HHHBMLIK_00039 |
30178 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
288T>C |
Leu96Leu |
M0085580 |
HHHBMLIK_00039 |
30197 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
307G>C |
Ala103Pro |
M0085581 |
HHHBMLIK_00039 |
30199 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
309T>G |
Ala103Ala |
M0085582 |
HHHBMLIK_00039 |
30202 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
312T>C |
Ala104Ala |
M0085583 |
HHHBMLIK_00039 |
30206 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
316A>C |
Asn106His |
M0085584 |
HHHBMLIK_00039 |
30242 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
352C>A |
Leu118Ile |
M0085585 |
HHHBMLIK_00039 |
30337 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
447G>T |
Pro149Pro |
M0085586 |
HHHBMLIK_00039 |
30340 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
450A>C |
Ala150Ala |
M0085587 |
HHHBMLIK_00040 |
30943 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
125G>A |
Arg42Gln |
M0085588 |
HHHBMLIK_00040 |
31305 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
487G>A |
Asp163Asn |
M0085589 |
HHHBMLIK_00040 |
31310 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
492T>C |
Gly164Gly |
M0085590 |
HHHBMLIK_00041 |
31847 |
18 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
359T>C |
Val120Ala |
M0085591 |
HHHBMLIK_00043 |
33137 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
244A>C |
Arg82Arg |
M0085592 |
HHHBMLIK_00043 |
33568 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
675T>A |
Ser225Ser |
M0085593 |
HHHBMLIK_00043 |
33569 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
676T>G |
Ser226Ala |
M0085594 |
HHHBMLIK_00043 |
33574 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
681G>A |
Glu227Glu |
M0085595 |
HHHBMLIK_00043 |
33580 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
687G>A |
Ser229Ser |
M0085596 |
HHHBMLIK_00043 |
33643 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
750C>A |
Ser250Ser |
M0085597 |
HHHBMLIK_00043 |
33646 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
753G>T |
Gln251His |
M0085598 |
HHHBMLIK_00043 |
33649 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
756G>C |
Arg252Arg |
M0085599 |
HHHBMLIK_00043 |
33733 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
840G>T |
Gly280Gly |
M0085600 |
HHHBMLIK_00043 |
34003 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1110T>C |
Ala370Ala |
M0085601 |
HHHBMLIK_00043 |
34021 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1128T>C |
Ala376Ala |
M0085602 |
HHHBMLIK_00043 |
34033 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1140G>T |
Gly380Gly |
M0085603 |
HHHBMLIK_00043 |
34036 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1143T>A |
Thr381Thr |
M0085604 |
HHHBMLIK_00043 |
34042 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1149T>C |
Thr383Thr |
M0085605 |
HHHBMLIK_00043 |
34324 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1431T>C |
Pro477Pro |
M0085606 |
HHHBMLIK_00043 |
34327 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1434T>A |
Gly478Gly |
M0085607 |
HHHBMLIK_00044 |
34683 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
297G>A |
Pro99Pro |
M0085608 |
HHHBMLIK_00044 |
34689 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
303T>C |
Asp101Asp |
M0085609 |
HHHBMLIK_00044 |
34692 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
306T>C |
Ile102Ile |
M0085610 |
HHHBMLIK_00044 |
34708 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
322T>C |
Leu108Leu |
M0085611 |
HHHBMLIK_00044 |
34944 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
558T>C |
His186His |
M0085612 |
HHHBMLIK_00045 |
36002 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
753G>A |
Leu251Leu |
M0085613 |
HHHBMLIK_00046 |
36151 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-93T>C |
None |
M0085614 |
HHHBMLIK_00048 |
37068 |
17 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
251A>G |
Asn84Ser |
M0085615 |
HHHBMLIK_00050 |
37729 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
99G>C |
Pro33Pro |
M0085616 |
HHHBMLIK_00050 |
37730 |
17 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
100G>T |
Ala34Ser |
M0085617 |
HHHBMLIK_00050 |
38266 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
636T>C |
Pro212Pro |
M0085618 |
HHHBMLIK_00050 |
38267 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
637A>G |
Lys213Glu |
M0085619 |
HHHBMLIK_00050 |
39965 |
14 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
2335A>G |
Asn779Asp |
M0085620 |
HHHBMLIK_00050 |
40027 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2397T>C |
His799His |
M0085621 |
HHHBMLIK_00050 |
40114 |
16 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
2484T>C |
Ala828Ala |
M0085622 |
HHHBMLIK_00054 |
44148 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
75C>T |
Asp25Asp |
M0085623 |
HHHBMLIK_00054 |
44285 |
21 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
212G>A |
Gly71Asp |
M0085624 |
HHHBMLIK_00054 |
44592 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
519T>C |
Asp173Asp |
M0085625 |
HHHBMLIK_00056 |
45952 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
347C>A |
Thr116Asn |
M0085626 |
HHHBMLIK_00057 |
46298 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-20A>G |
None |
M0085627 |
HHHBMLIK_00057 |
46301 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-17C>T |
None |
M0085628 |
HHHBMLIK_00057 |
46419 |
23 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
102C>T |
His34His |
M0085629 |
HHHBMLIK_00057 |
46428 |
17 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
111C>T |
Leu37Leu |
M0085630 |
HHHBMLIK_00057 |
46559 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
242A>G |
Glu81Gly |
M0085631 |
HHHBMLIK_00057 |
46829 |
13 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
512C>T |
Thr171Met |
M0085632 |
HHHBMLIK_00057 |
46842 |
18 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
525C>T |
Ala175Ala |
M0085633 |
HHHBMLIK_00057 |
46926 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
609C>G |
Val203Val |
M0085634 |
HHHBMLIK_00057 |
46995 |
12 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
678C>T |
Val226Val |
M0085635 |
HHHBMLIK_00057 |
47012 |
8 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
695A>G |
Asp232Gly |
M0085636 |
HHHBMLIK_00057 |
47018 |
15 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
701A>G |
Glu234Gly |
M0085637 |
HHHBMLIK_00057 |
47159 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
842C>T |
Pro281Leu |
M0085638 |
HHHBMLIK_00057 |
47178 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
861G>T |
Val287Val |
M0085639 |
HHHBMLIK_00057 |
47180 |
20 |
Skin |
0.14 |
protein_coding |
missense_variant |
MODERATE |
863A>G |
Asn288Ser |
M0085640 |
HHHBMLIK_00057 |
47318 |
15 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
1001A>G |
Gln334Arg |
M0085641 |
HHHBMLIK_00057 |
47379 |
19 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1062C>T |
Arg354Arg |
M0085642 |
HHHBMLIK_00057 |
47383 |
19 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1066A>C |
Met356Leu |
M0085643 |
HHHBMLIK_00057 |
47490 |
19 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1173T>C |
Cys391Cys |
M0085644 |
HHHBMLIK_00058 |
48524 |
14 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
636T>C |
His212His |
M0085645 |
HHHBMLIK_00058 |
48572 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
684A>G |
Leu228Leu |
M0085646 |
HHHBMLIK_00058 |
48578 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
690T>C |
Arg230Arg |
M0085647 |
HHHBMLIK_00058 |
48581 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
693C>A |
Asp231Glu |
M0085648 |
HHHBMLIK_00058 |
48582 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
694G>C |
Ala232Pro |
M0085649 |
HHHBMLIK_00058 |
48583 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
695C>A |
Ala232Asp |
M0085650 |
HHHBMLIK_00058 |
48584 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
696T>C |
Ala232Ala |
M0085651 |
HHHBMLIK_00058 |
48585 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
697G>C |
Glu233Gln |
M0085652 |
HHHBMLIK_00058 |
48587 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
699A>C |
Glu233Asp |
M0085653 |
HHHBMLIK_00058 |
48595 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
707G>A |
Arg236Gln |
M0085654 |
HHHBMLIK_00058 |
48596 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
708G>A |
Arg236Arg |
M0085655 |
HHHBMLIK_00059 |
48772 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-255G>A |
None |
M0085656 |
HHHBMLIK_00065 |
53147 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1191G>A |
None |
M0085657 |
HHHBMLIK_00069 |
54793 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
59A>G |
Asp20Gly |
M0085658 |
HHHBMLIK_00065 |
55368 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3412A>G |
None |
M0085659 |
HHHBMLIK_00054 |
43406 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-668A>G |
None |
M0085660 |
HHHBMLIK_00054 |
43591 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-483C>A |
None |
M0085661 |
HHHBMLIK_00054 |
43749 |
13 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-325T>C |
None |
M0085662 |
HHHBMLIK_00054 |
43985 |
16 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-89C>A |
None |
M0085663 |
HHHBMLIK_00069 |
54217 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
635A>C |
Asp212Ala |
M0085664 |
HHHBMLIK_00069 |
54228 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
624T>C |
Pro208Pro |
M0085665 |
HHHBMLIK_00029 |
18852 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
801G>C |
Pro267Pro |
M0085666 |
HHHBMLIK_00032 |
20701 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
906T>C |
Arg302Arg |
M0085667 |
HHHBMLIK_00032 |
20702 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
905G>A |
Arg302His |
M0085668 |
HHHBMLIK_00032 |
20710 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
897G>C |
Ala299Ala |
M0085669 |
HHHBMLIK_00032 |
20713 |
13 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
894C>T |
Thr298Thr |
M0085670 |
HHHBMLIK_00032 |
21310 |
20 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
297T>C |
Ile99Ile |
M0085671 |
HHHBMLIK_00033 |
21619 |
14 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
2096A>G |
Lys699Arg |
M0085672 |
HHHBMLIK_00033 |
22147 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1568A>G |
Gln523Arg |
M0085673 |
HHHBMLIK_00057 |
46436 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
119C>T |
Ala40Val |
M0085674 |
HHHBMLIK_00057 |
46437 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
120G>C |
Ala40Ala |
M0085675 |
HHHBMLIK_00057 |
47234 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
917T>C |
Ile306Thr |
M0085676 |
HHHBMLIK_00057 |
47819 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1502T>C |
Ile501Thr |
M0085677 |
HHHBMLIK_00057 |
47832 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1515C>A |
His505Gln |
M0085678 |
HHHBMLIK_00057 |
47860 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1543A>C |
Met515Leu |
M0085679 |
HHHBMLIK_00038 |
29138 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
160G>T |
Ala54Ser |
M0085680 |
HHHBMLIK_00039 |
30035 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
145C>T |
Leu49Leu |
M0085681 |
HHHBMLIK_00039 |
30038 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
148C>A |
Leu50Met |
M0085682 |
HHHBMLIK_00039 |
30723 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
833T>C |
Val278Ala |
M0085683 |
HHHBMLIK_00032 |
21535 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
72C>A |
Pro24Pro |
M0085684 |
HHHBMLIK_00033 |
21668 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
2047C>T |
Pro683Ser |
M0085685 |
HHHBMLIK_00033 |
21684 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2031C>T |
Asn677Asn |
M0085686 |
HHHBMLIK_00033 |
22770 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
945G>T |
Gly315Gly |
M0085687 |
HHHBMLIK_00033 |
22923 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
792C>G |
Arg264Arg |
M0085688 |
HHHBMLIK_00033 |
28628 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4914A>C |
None |
M0085689 |
HHHBMLIK_00034 |
28821 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2591T>C |
None |
M0085690 |
HHHBMLIK_00034 |
28824 |
9 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2594G>A |
None |
M0085691 |
HHHBMLIK_00034 |
28842 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2612T>G |
None |
M0085692 |
HHHBMLIK_00034 |
28843 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2613A>G |
None |
M0085693 |
HHHBMLIK_00034 |
28849 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2619A>G |
None |
M0085694 |
HHHBMLIK_00034 |
28850 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2620C>T |
None |
M0085695 |
HHHBMLIK_00034 |
28871 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2641G>A |
None |
M0085696 |
HHHBMLIK_00038 |
29056 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
78T>C |
Pro26Pro |
M0085697 |
HHHBMLIK_00038 |
29143 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
165G>A |
Arg55Arg |
M0085698 |
HHHBMLIK_00038 |
29206 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
228C>T |
Ile76Ile |
M0085699 |
HHHBMLIK_00038 |
29261 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
283T>C |
Leu95Leu |
M0085700 |
HHHBMLIK_00038 |
29269 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
291T>G |
Gly97Gly |
M0085701 |
HHHBMLIK_00038 |
29270 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
292C>T |
Leu98Leu |
M0085702 |
HHHBMLIK_00038 |
29334 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
356T>C |
Ile119Thr |
M0085703 |
HHHBMLIK_00038 |
29395 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
417G>C |
Glu139Asp |
M0085704 |
HHHBMLIK_00034 |
29745 |
11 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3515C>T |
None |
M0085705 |
HHHBMLIK_00039 |
30144 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
254C>T |
Ala85Val |
M0085706 |
HHHBMLIK_00034 |
24185 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2046C>T |
Leu682Leu |
M0085707 |
HHHBMLIK_00034 |
24983 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1248G>A |
Ser416Ser |
M0085708 |
HHHBMLIK_00034 |
25241 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
990T>A |
Ala330Ala |
M0085709 |
HHHBMLIK_00034 |
25280 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
951T>C |
Asp317Asp |
M0085710 |
HHHBMLIK_00034 |
25286 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
945G>C |
Thr315Thr |
M0085711 |
HHHBMLIK_00034 |
25292 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
939T>C |
Arg313Arg |
M0085712 |
HHHBMLIK_00034 |
25298 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
933T>C |
Ala311Ala |
M0085713 |
HHHBMLIK_00034 |
25393 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
838T>C |
Leu280Leu |
M0085714 |
HHHBMLIK_00034 |
25394 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
837T>C |
Phe279Phe |
M0085715 |
HHHBMLIK_00034 |
25430 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
801G>A |
Lys267Lys |
M0085716 |
HHHBMLIK_00016 |
9600 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
137G>C |
Gly46Ala |
M0085717 |
HHHBMLIK_00016 |
9623 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
160T>G |
Ser54Ala |
M0085718 |
HHHBMLIK_00016 |
9625 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
162A>G |
Ser54Ser |
M0085719 |
HHHBMLIK_00016 |
9641 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
178G>C |
Glu60Gln |
M0085720 |
HHHBMLIK_00011 |
9832 |
6 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2526C>T |
None |
M0085721 |
HHHBMLIK_00018 |
10692 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
474C>T |
His158His |
M0085722 |
HHHBMLIK_00018 |
10693 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
473A>G |
His158Arg |
M0085723 |
HHHBMLIK_00018 |
10695 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
471C>T |
His157His |
M0085724 |
HHHBMLIK_00018 |
10701 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
465G>C |
Leu155Leu |
M0085725 |
HHHBMLIK_00018 |
10707 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
459A>C |
Thr153Thr |
M0085726 |
HHHBMLIK_00018 |
10747 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
419G>A |
Arg140Gln |
M0085727 |
HHHBMLIK_00018 |
10749 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
417A>T |
Glu139Asp |
M0085728 |
HHHBMLIK_00047 |
36608 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
165G>A |
Glu55Glu |
M0085729 |
HHHBMLIK_00047 |
36640 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
197C>T |
Ser66Leu |
M0085730 |
HHHBMLIK_00047 |
36642 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
199G>A |
Ala67Thr |
M0085731 |
HHHBMLIK_00048 |
36838 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
21T>C |
Gly7Gly |
M0085732 |
HHHBMLIK_00048 |
36945 |
9 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
128A>G |
Asn43Ser |
M0085733 |
HHHBMLIK_00048 |
36955 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
138G>T |
Ala46Ala |
M0085734 |
HHHBMLIK_00048 |
37162 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
345G>A |
Gly115Gly |
M0085735 |
HHHBMLIK_00049 |
37241 |
8 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
9T>C |
Arg3Arg |
M0085736 |
HHHBMLIK_00049 |
37292 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
60G>A |
Pro20Pro |
M0085737 |
HHHBMLIK_00049 |
37295 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
63G>A |
Val21Val |
M0085738 |
HHHBMLIK_00049 |
37418 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
186T>A |
Leu62Leu |
M0085739 |
HHHBMLIK_00050 |
37693 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
63G>C |
Pro21Pro |
M0085740 |
HHHBMLIK_00050 |
37942 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
312T>C |
Leu104Leu |
M0085741 |
HHHBMLIK_00050 |
38048 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
418C>G |
Pro140Ala |
M0085742 |
HHHBMLIK_00050 |
38049 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
419C>G |
Pro140Arg |
M0085743 |
HHHBMLIK_00050 |
38051 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
421G>A |
Ala141Thr |
M0085744 |
HHHBMLIK_00050 |
38238 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
608T>C |
Val203Ala |
M0085745 |
HHHBMLIK_00050 |
38284 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
654T>C |
Val218Val |
M0085746 |
HHHBMLIK_00050 |
38287 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
657T>C |
His219His |
M0085747 |
HHHBMLIK_00050 |
38315 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
685G>A |
Glu229Lys |
M0085748 |
HHHBMLIK_00011 |
9902 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2596T>G |
None |
M0085749 |
HHHBMLIK_00018 |
10575 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
591G>A |
Leu197Leu |
M0085750 |
HHHBMLIK_00018 |
10599 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
567A>C |
Arg189Arg |
M0085751 |
HHHBMLIK_00018 |
10605 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
561G>A |
Glu187Glu |
M0085752 |
HHHBMLIK_00057 |
46138 |
18 |
Skin |
0.12 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-180C>T |
None |
M0085753 |
HHHBMLIK_00057 |
46308 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-10G>T |
None |
M0085754 |
HHHBMLIK_00057 |
46449 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
132T>G |
Gly44Gly |
M0085755 |
HHHBMLIK_00057 |
46737 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
420C>T |
Cys140Cys |
M0085756 |
HHHBMLIK_00057 |
46738 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
421C>G |
Gln141Glu |
M0085757 |
HHHBMLIK_00050 |
39593 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1963T>C |
Ser655Pro |
M0085758 |
HHHBMLIK_00050 |
40510 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2880G>A |
Gly960Gly |
M0085759 |
HHHBMLIK_00050 |
40514 |
11 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2884C>T |
Leu962Leu |
M0085760 |
HHHBMLIK_00050 |
40580 |
16 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
2950A>G |
Thr984Ala |
M0085761 |
HHHBMLIK_00052 |
42168 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
816C>T |
His272His |
M0085762 |
HHHBMLIK_00052 |
42172 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
820C>G |
Gln274Glu |
M0085763 |
HHHBMLIK_00053 |
42268 |
10 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
38A>G |
Glu13Gly |
M0085764 |
HHHBMLIK_00053 |
43070 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
840T>C |
Gly280Gly |
M0085765 |
HHHBMLIK_00013 |
8119 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
19A>G |
Thr7Ala |
M0085766 |
HHHBMLIK_00013 |
8367 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
267A>G |
Leu89Leu |
M0085767 |
HHHBMLIK_00013 |
8385 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
285C>T |
Leu95Leu |
M0085768 |
HHHBMLIK_00005 |
8425 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4779A>G |
None |
M0085769 |
HHHBMLIK_00005 |
8430 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4784C>T |
None |
M0085770 |
HHHBMLIK_00014 |
8665 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
121T>C |
Ser41Pro |
M0085771 |
HHHBMLIK_00050 |
40535 |
9 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
2905T>C |
Leu969Leu |
M0085772 |
HHHBMLIK_00003 |
1494 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
156C>T |
Ser52Ser |
M0085773 |
HHHBMLIK_00003 |
1512 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
174C>G |
Arg58Arg |
M0085774 |
HHHBMLIK_00003 |
1518 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
180C>T |
Gly60Gly |
M0085775 |
HHHBMLIK_00003 |
1521 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
183C>T |
Asp61Asp |
M0085776 |
HHHBMLIK_00050 |
40138 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2508A>G |
Gly836Gly |
M0085777 |
HHHBMLIK_00050 |
40140 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
2510C>T |
Ala837Val |
M0085778 |
HHHBMLIK_00050 |
40504 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2874A>G |
Glu958Glu |
M0085779 |
HHHBMLIK_00050 |
40600 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2970G>A |
Glu990Glu |
M0085780 |
HHHBMLIK_00024 |
15311 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
315C>T |
Leu105Leu |
M0085781 |
HHHBMLIK_00024 |
15321 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
325G>A |
Asp109Asn |
M0085782 |
HHHBMLIK_00024 |
15323 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
327T>C |
Asp109Asp |
M0085783 |
HHHBMLIK_00024 |
15325 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
329A>C |
Glu110Ala |
M0085784 |
HHHBMLIK_00024 |
15329 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
333T>C |
His111His |
M0085785 |
HHHBMLIK_00024 |
15330 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
334C>T |
Leu112Leu |
M0085786 |
HHHBMLIK_00024 |
15332 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
336A>G |
Leu112Leu |
M0085787 |
HHHBMLIK_00024 |
15350 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
354T>C |
Ser118Ser |
M0085788 |
HHHBMLIK_00024 |
15407 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
411C>A |
Ala137Ala |
M0085789 |
HHHBMLIK_00024 |
15425 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
429C>T |
Thr143Thr |
M0085790 |
HHHBMLIK_00024 |
15432 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
436A>C |
Met146Leu |
M0085791 |
HHHBMLIK_00024 |
15438 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
442A>G |
Ile148Val |
M0085792 |
HHHBMLIK_00024 |
15446 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
450G>A |
Gln150Gln |
M0085793 |
HHHBMLIK_00024 |
15512 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
516C>T |
Pro172Pro |
M0085794 |
HHHBMLIK_00025 |
15911 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
276A>G |
Gln92Gln |
M0085795 |
HHHBMLIK_00025 |
15912 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
277T>C |
Leu93Leu |
M0085796 |
HHHBMLIK_00019 |
16919 |
10 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4055G>A |
None |
M0085797 |
HHHBMLIK_00019 |
16931 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4067G>A |
None |
M0085798 |
HHHBMLIK_00019 |
16933 |
8 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4069G>T |
None |
M0085799 |
HHHBMLIK_00028 |
17039 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
570C>T |
Asp190Asp |
M0085800 |
HHHBMLIK_00028 |
17066 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
543C>T |
Thr181Thr |
M0085801 |
HHHBMLIK_00028 |
17069 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
540C>G |
Leu180Leu |
M0085802 |
HHHBMLIK_00028 |
17072 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
537C>G |
Gly179Gly |
M0085803 |
HHHBMLIK_00028 |
17078 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
531A>C |
Ile177Ile |
M0085804 |
HHHBMLIK_00028 |
17084 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
525T>G |
Thr175Thr |
M0085805 |
HHHBMLIK_00028 |
17088 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
521T>C |
Val174Ala |
M0085806 |
HHHBMLIK_00028 |
17090 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
519G>C |
Gln173His |
M0085807 |
HHHBMLIK_00028 |
17182 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
427C>G |
Leu143Val |
M0085808 |
HHHBMLIK_00028 |
17187 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
422C>T |
Ala141Val |
M0085809 |
HHHBMLIK_00028 |
17215 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
394G>A |
Ala132Thr |
M0085810 |
HHHBMLIK_00029 |
17964 |
10 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1689G>A |
Glu563Glu |
M0085811 |
HHHBMLIK_00034 |
24626 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1605C>A |
Pro535Pro |
M0085812 |
HHHBMLIK_00050 |
39938 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
2308A>G |
Thr770Ala |
M0085813 |
HHHBMLIK_00050 |
39955 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2325C>T |
Arg775Arg |
M0085814 |
HHHBMLIK_00056 |
45608 |
3 |
Skin |
0.02 |
protein_coding |
start_lost |
HIGH |
3G>C |
Met1? |
M0085815 |
HHHBMLIK_00056 |
45692 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
87G>A |
Gly29Gly |
M0085816 |
HHHBMLIK_00056 |
45912 |
15 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
307G>A |
Ala103Thr |
M0085817 |
HHHBMLIK_00033 |
21804 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1911G>A |
Pro637Pro |
M0085818 |
HHHBMLIK_00033 |
22308 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1407C>T |
Ser469Ser |
M0085819 |
HHHBMLIK_00033 |
22342 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1373G>T |
Trp458Leu |
M0085820 |
HHHBMLIK_00034 |
25592 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
639G>A |
Glu213Glu |
M0085821 |
HHHBMLIK_00042 |
32670 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
595C>G |
Gln199Glu |
M0085822 |
HHHBMLIK_00042 |
32750 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
675C>T |
His225His |
M0085823 |
HHHBMLIK_00050 |
40498 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
2868C>T |
Ala956Ala |
M0085824 |
HHHBMLIK_00051 |
41044 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
264A>C |
Thr88Thr |
M0085825 |
HHHBMLIK_00051 |
41071 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
291T>C |
Ala97Ala |
M0085826 |
HHHBMLIK_00057 |
47229 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
912A>C |
Lys304Asn |
M0085827 |
HHHBMLIK_00057 |
51128 |
3 |
Skin |
0.02 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3239C>A |
None |
M0085828 |
HHHBMLIK_00002 |
802 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-319A>G |
None |
M0085829 |
HHHBMLIK_00002 |
1085 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-36C>T |
None |
M0085830 |
HHHBMLIK_00002 |
1087 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-34A>G |
None |
M0085831 |
HHHBMLIK_00002 |
1118 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3G>A |
None |
M0085832 |
HHHBMLIK_00002 |
1132 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
12G>C |
Ser4Ser |
M0085833 |
HHHBMLIK_00002 |
1179 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
59G>A |
Arg20His |
M0085834 |
HHHBMLIK_00002 |
1183 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
63G>A |
Leu21Leu |
M0085835 |
HHHBMLIK_00002 |
1201 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
81T>C |
Ser27Ser |
M0085836 |
HHHBMLIK_00002 |
1286 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
166C>A |
Arg56Ser |
M0085837 |
HHHBMLIK_00002 |
1287 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
167G>A |
Arg56His |
M0085838 |
HHHBMLIK_00002 |
1306 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
186C>T |
Arg62Arg |
M0085839 |
HHHBMLIK_00003 |
1533 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
195C>A |
Ile65Ile |
M0085840 |
HHHBMLIK_00003 |
1549 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
211A>G |
Asn71Asp |
M0085841 |
HHHBMLIK_00003 |
1559 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
221C>T |
Thr74Ile |
M0085842 |
HHHBMLIK_00005 |
6272 |
7 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2626T>A |
None |
M0085843 |
HHHBMLIK_00028 |
17045 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
564A>C |
Leu188Leu |
M0085844 |
HHHBMLIK_00040 |
31008 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
190C>G |
Pro64Ala |
M0085845 |
HHHBMLIK_00029 |
18180 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1473C>A |
Arg491Arg |
M0085846 |
HHHBMLIK_00044 |
35238 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
852C>T |
Val284Val |
M0085847 |
HHHBMLIK_00033 |
28373 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4659C>T |
None |
M0085848 |
HHHBMLIK_00034 |
28970 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2740C>T |
None |
M0085849 |
HHHBMLIK_00039 |
30052 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
162C>T |
Asp54Asp |
M0085850 |
HHHBMLIK_00019 |
11485 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1380T>C |
Arg460Arg |
M0085851 |
HHHBMLIK_00019 |
11728 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1137G>A |
Lys379Lys |
M0085852 |
HHHBMLIK_00019 |
11822 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1043G>A |
Gly348Glu |
M0085853 |
HHHBMLIK_00019 |
11824 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1041T>C |
Leu347Leu |
M0085854 |
HHHBMLIK_00019 |
11841 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1024A>C |
Lys342Gln |
M0085855 |
HHHBMLIK_00019 |
11842 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1023T>C |
Thr341Thr |
M0085856 |
HHHBMLIK_00019 |
11845 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1020T>C |
Val340Val |
M0085857 |
HHHBMLIK_00019 |
11847 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1018G>A |
Val340Ile |
M0085858 |
HHHBMLIK_00019 |
11854 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1011C>T |
Asp337Asp |
M0085859 |
HHHBMLIK_00019 |
11857 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1008T>A |
Pro336Pro |
M0085860 |
HHHBMLIK_00019 |
11860 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1005T>A |
Gly335Gly |
M0085861 |
HHHBMLIK_00019 |
11864 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1001T>C |
Phe334Ser |
M0085862 |
HHHBMLIK_00019 |
11865 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1000T>G |
Phe334Val |
M0085863 |
HHHBMLIK_00019 |
11910 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
955G>A |
Ala319Thr |
M0085864 |
HHHBMLIK_00019 |
11911 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
954C>T |
Asp318Asp |
M0085865 |
HHHBMLIK_00019 |
11914 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
951T>C |
Val317Val |
M0085866 |
HHHBMLIK_00019 |
12077 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
788A>G |
His263Arg |
M0085867 |
HHHBMLIK_00019 |
12079 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
786T>C |
Ala262Ala |
M0085868 |
HHHBMLIK_00019 |
12208 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
657T>C |
Gly219Gly |
M0085869 |
HHHBMLIK_00019 |
12211 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
654A>G |
Gln218Gln |
M0085870 |
HHHBMLIK_00019 |
12213 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
652C>A |
Gln218Lys |
M0085871 |
HHHBMLIK_00019 |
12730 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
135G>A |
Arg45Arg |
M0085872 |
HHHBMLIK_00019 |
12733 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
132G>A |
Gly44Gly |
M0085873 |
HHHBMLIK_00019 |
12739 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
126A>G |
Leu42Leu |
M0085874 |
HHHBMLIK_00027 |
16470 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
283A>G |
Ser95Gly |
M0085875 |
HHHBMLIK_00027 |
16485 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
268A>G |
Thr90Ala |
M0085876 |
HHHBMLIK_00019 |
16817 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3953C>A |
None |
M0085877 |
HHHBMLIK_00028 |
17000 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
609G>A |
Ala203Ala |
M0085878 |
HHHBMLIK_00028 |
17009 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
600T>C |
Leu200Leu |
M0085879 |
HHHBMLIK_00033 |
21948 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1767C>T |
Ser589Ser |
M0085880 |
HHHBMLIK_00033 |
23082 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
633T>G |
His211Gln |
M0085881 |
HHHBMLIK_00033 |
23083 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
632A>G |
His211Arg |
M0085882 |
HHHBMLIK_00033 |
23361 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
354A>G |
Leu118Leu |
M0085883 |
HHHBMLIK_00033 |
23432 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
283T>C |
Leu95Leu |
M0085884 |
HHHBMLIK_00033 |
23435 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
280C>T |
Leu94Leu |
M0085885 |
HHHBMLIK_00033 |
23436 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
279C>G |
Ala93Ala |
M0085886 |
HHHBMLIK_00033 |
23610 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
105A>G |
Ala35Ala |
M0085887 |
HHHBMLIK_00033 |
23645 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
70C>T |
Leu24Leu |
M0085888 |
HHHBMLIK_00033 |
23670 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
45C>T |
Phe15Phe |
M0085889 |
HHHBMLIK_00033 |
23673 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
42G>A |
Arg14Arg |
M0085890 |
HHHBMLIK_00034 |
24071 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2160C>T |
Asp720Asp |
M0085891 |
HHHBMLIK_00032 |
20956 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
651T>C |
Thr217Thr |
M0085892 |
HHHBMLIK_00033 |
22501 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1214C>T |
Ala405Val |
M0085893 |
HHHBMLIK_00035 |
26731 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
135G>A |
Ala45Ala |
M0085894 |
HHHBMLIK_00046 |
36408 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
165G>A |
Thr55Thr |
M0085895 |
HHHBMLIK_00054 |
43367 |
11 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-707G>A |
None |
M0085896 |
HHHBMLIK_00054 |
44323 |
12 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
250A>G |
Thr84Ala |
M0085897 |
HHHBMLIK_00033 |
23232 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
483A>T |
Ala161Ala |
M0085898 |
HHHBMLIK_00050 |
40468 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2838C>T |
Val946Val |
M0085899 |
HHHBMLIK_00050 |
40474 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2844T>G |
Ala948Ala |
M0085900 |
HHHBMLIK_00050 |
40477 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2847C>T |
Ala949Ala |
M0085901 |
HHHBMLIK_00050 |
40480 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2850C>T |
Leu950Leu |
M0085902 |
HHHBMLIK_00050 |
40483 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2853A>G |
Gln951Gln |
M0085903 |
HHHBMLIK_00050 |
40489 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2859A>G |
Thr953Thr |
M0085904 |
HHHBMLIK_00050 |
40492 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2862C>T |
Asp954Asp |
M0085905 |
HHHBMLIK_00053 |
42457 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
227A>T |
Asp76Val |
M0085906 |
HHHBMLIK_00055 |
45219 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-116T>C |
None |
M0085907 |
HHHBMLIK_00058 |
47997 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
109C>A |
Leu37Met |
M0085908 |
HHHBMLIK_00058 |
47999 |
7 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
111G>C |
Leu37Leu |
M0085909 |
HHHBMLIK_00058 |
48097 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
209A>C |
Asp70Ala |
M0085910 |
HHHBMLIK_00058 |
48125 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
237T>C |
His79His |
M0085911 |
HHHBMLIK_00058 |
48171 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
283T>C |
Ser95Pro |
M0085912 |
HHHBMLIK_00058 |
48319 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
431T>A |
Leu144His |
M0085913 |
HHHBMLIK_00058 |
48356 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
468T>C |
His156His |
M0085914 |
HHHBMLIK_00058 |
48399 |
7 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
511G>A |
Asp171Asn |
M0085915 |
HHHBMLIK_00058 |
48423 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
535C>A |
Leu179Ile |
M0085916 |
HHHBMLIK_00058 |
48455 |
6 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
567G>A |
Arg189Arg |
M0085917 |
HHHBMLIK_00058 |
48477 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
589G>A |
Val197Met |
M0085918 |
HHHBMLIK_00058 |
48489 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
601G>A |
Asp201Asn |
M0085919 |
HHHBMLIK_00058 |
48490 |
6 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
602A>C |
Asp201Ala |
M0085920 |
HHHBMLIK_00018 |
11014 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
152C>A |
Ala51Glu |
M0085921 |
HHHBMLIK_00018 |
11016 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
150G>C |
Val50Val |
M0085922 |
HHHBMLIK_00018 |
11046 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
120G>A |
Leu40Leu |
M0085923 |
HHHBMLIK_00034 |
28867 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2637G>C |
None |
M0085924 |
HHHBMLIK_00034 |
28943 |
5 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2713G>A |
None |
M0085925 |
HHHBMLIK_00038 |
29365 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
387C>T |
Phe129Phe |
M0085926 |
HHHBMLIK_00038 |
29599 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
621A>G |
Arg207Arg |
M0085927 |
HHHBMLIK_00043 |
34309 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1416T>G |
Leu472Leu |
M0085928 |
HHHBMLIK_00044 |
34971 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
585G>A |
Lys195Lys |
M0085929 |
HHHBMLIK_00050 |
39262 |
5 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1632C>T |
Cys544Cys |
M0085930 |
HHHBMLIK_00050 |
39277 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1647A>G |
Glu549Glu |
M0085931 |
HHHBMLIK_00050 |
39292 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1662C>G |
Leu554Leu |
M0085932 |
HHHBMLIK_00050 |
39365 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1735A>G |
Thr579Ala |
M0085933 |
HHHBMLIK_00050 |
39382 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1752A>G |
Leu584Leu |
M0085934 |
HHHBMLIK_00050 |
39426 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1796A>G |
Asn599Ser |
M0085935 |
HHHBMLIK_00050 |
39641 |
5 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
2011C>G |
Leu671Val |
M0085936 |
HHHBMLIK_00059 |
48888 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-139A>G |
None |
M0085937 |
HHHBMLIK_00059 |
48950 |
3 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-77T>C |
None |
M0085938 |
HHHBMLIK_00059 |
49455 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
429C>T |
Val143Val |
M0085939 |
HHHBMLIK_00028 |
17150 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
459T>C |
Asp153Asp |
M0085940 |
HHHBMLIK_00028 |
17153 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
456T>C |
Ser152Ser |
M0085941 |
HHHBMLIK_00028 |
17159 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
450T>C |
Gly150Gly |
M0085942 |
HHHBMLIK_00028 |
17165 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
444A>C |
Gly148Gly |
M0085943 |
HHHBMLIK_00019 |
11278 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1587A>G |
Arg529Arg |
M0085944 |
HHHBMLIK_00019 |
11296 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1569C>T |
Asp523Asp |
M0085945 |
HHHBMLIK_00033 |
23073 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
642C>T |
Thr214Thr |
M0085946 |
HHHBMLIK_00033 |
23120 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
595C>T |
Leu199Leu |
M0085947 |
HHHBMLIK_00018 |
10470 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
696T>C |
Phe232Phe |
M0085948 |
HHHBMLIK_00019 |
11368 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1497T>C |
Ala499Ala |
M0085949 |
HHHBMLIK_00025 |
16034 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
399C>T |
Ala133Ala |
M0085950 |
HHHBMLIK_00025 |
16037 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
402A>G |
Lys134Lys |
M0085951 |
HHHBMLIK_00034 |
28831 |
4 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2601C>A |
None |
M0085952 |
HHHBMLIK_00038 |
29031 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
53C>T |
Thr18Ile |
M0085953 |
HHHBMLIK_00038 |
29032 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
54T>C |
Thr18Thr |
M0085954 |
HHHBMLIK_00040 |
31373 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
555G>A |
Val185Val |
M0085955 |
HHHBMLIK_00011 |
7073 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
234G>C |
Gly78Gly |
M0085956 |
HHHBMLIK_00011 |
7241 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
66C>A |
Ala22Ala |
M0085957 |
HHHBMLIK_00012 |
7320 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
757A>C |
Lys253Gln |
M0085958 |
HHHBMLIK_00012 |
7324 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
753A>G |
Arg251Arg |
M0085959 |
HHHBMLIK_00012 |
7325 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
752G>A |
Arg251Gln |
M0085960 |
HHHBMLIK_00012 |
7328 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
749A>C |
Asp250Ala |
M0085961 |
HHHBMLIK_00012 |
7372 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
705C>T |
Ile235Ile |
M0085962 |
HHHBMLIK_00012 |
7405 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
672G>A |
Glu224Glu |
M0085963 |
HHHBMLIK_00012 |
7411 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
666T>C |
Asp222Asp |
M0085964 |
HHHBMLIK_00012 |
7421 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
656A>G |
Asp219Gly |
M0085965 |
HHHBMLIK_00012 |
7432 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
645T>A |
Val215Val |
M0085966 |
HHHBMLIK_00012 |
7438 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
639C>T |
Ala213Ala |
M0085967 |
HHHBMLIK_00012 |
7444 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
633G>A |
Gly211Gly |
M0085968 |
HHHBMLIK_00012 |
7447 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
630G>C |
Glu210Asp |
M0085969 |
HHHBMLIK_00012 |
7456 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
621T>C |
Asp207Asp |
M0085970 |
HHHBMLIK_00012 |
7476 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
601T>C |
Trp201Arg |
M0085971 |
HHHBMLIK_00012 |
7477 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
600T>C |
Asp200Asp |
M0085972 |
HHHBMLIK_00012 |
7497 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
580C>T |
Leu194Leu |
M0085973 |
HHHBMLIK_00012 |
7593 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
484A>G |
Ile162Val |
M0085974 |
HHHBMLIK_00012 |
7606 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
471C>T |
Thr157Thr |
M0085975 |
HHHBMLIK_00012 |
7609 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
468C>T |
Ile156Ile |
M0085976 |
HHHBMLIK_00012 |
7648 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
429T>C |
Leu143Leu |
M0085977 |
HHHBMLIK_00012 |
7668 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
409C>G |
Arg137Gly |
M0085978 |
HHHBMLIK_00012 |
7684 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
393T>C |
Pro131Pro |
M0085979 |
HHHBMLIK_00012 |
7712 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
365G>A |
Gly122Asp |
M0085980 |
HHHBMLIK_00012 |
7716 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
361C>T |
Leu121Leu |
M0085981 |
HHHBMLIK_00012 |
7718 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
359C>A |
Pro120Gln |
M0085982 |
HHHBMLIK_00012 |
7726 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
351T>C |
Thr117Thr |
M0085983 |
HHHBMLIK_00012 |
7728 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
349A>G |
Thr117Ala |
M0085984 |
HHHBMLIK_00012 |
7729 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
348G>A |
Glu116Glu |
M0085985 |
HHHBMLIK_00012 |
7735 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
342T>C |
Ala114Ala |
M0085986 |
HHHBMLIK_00012 |
7768 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
309G>A |
Pro103Pro |
M0085987 |
HHHBMLIK_00012 |
7804 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
273A>C |
Ala91Ala |
M0085988 |
HHHBMLIK_00012 |
7816 |
3 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
261A>C |
Ala87Ala |
M0085989 |
HHHBMLIK_00043 |
33299 |
3 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
406T>C |
Trp136Arg |
M0085990 |
HHHBMLIK_00050 |
38633 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1003C>A |
Leu335Ile |
M0085991 |
HHHBMLIK_00050 |
38651 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1021G>A |
Ala341Thr |
M0085992 |
HHHBMLIK_00050 |
38669 |
4 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1039A>G |
Asn347Asp |
M0085993 |
HHHBMLIK_00050 |
38701 |
4 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1071T>C |
Gly357Gly |
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 |
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 |
HHHBMLIK_00032 |
ALT45754.1|GH184 |
100 |
4.78e-247 |
1 |
356 |
1 |
1 |
HHHBMLIK_00050 |
ALT45770.1|CBM50 |
100 |
0 |
1 |
1037 |
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 |