Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C513 |
Reference Plasmid |
NZ_CP024447.1 |
Reference Plasmid Size |
61809 |
Reference Plasmid GC Content |
0.42 |
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 |
M0092446 |
JFHFEPIL_00048 |
48100 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
95A>T |
Lys32Ile |
M0092447 |
JFHFEPIL_00048 |
48125 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
70A>G |
Lys24Glu |
M0092448 |
JFHFEPIL_00043 |
48195 |
5 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3250T>C |
None |
M0092449 |
JFHFEPIL_00049 |
48217 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
9T>C |
Asn3Asn |
M0092450 |
JFHFEPIL_00049 |
48233 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
25T>C |
Tyr9His |
M0092451 |
JFHFEPIL_00049 |
48234 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
26A>C |
Tyr9Ser |
M0092452 |
JFHFEPIL_00049 |
48262 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
54T>C |
Phe18Phe |
M0092453 |
JFHFEPIL_00049 |
48265 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
57C>T |
Asn19Asn |
M0092454 |
JFHFEPIL_00049 |
48286 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
78C>T |
Val26Val |
M0092455 |
JFHFEPIL_00049 |
48339 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
131A>G |
Asn44Ser |
M0092456 |
JFHFEPIL_00049 |
48416 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
208C>G |
His70Asp |
M0092457 |
JFHFEPIL_00049 |
48427 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
219G>A |
Met73Ile |
M0092458 |
JFHFEPIL_00049 |
48475 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
267G>A |
Gln89Gln |
M0092459 |
JFHFEPIL_00049 |
48528 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
320T>A |
Phe107Tyr |
M0092460 |
JFHFEPIL_00049 |
48640 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
432A>G |
Glu144Glu |
M0092461 |
JFHFEPIL_00049 |
48669 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
461A>G |
Glu154Gly |
M0092462 |
JFHFEPIL_00050 |
48693 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
15C>T |
Phe5Phe |
M0092463 |
JFHFEPIL_00050 |
48759 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
81G>A |
Leu27Leu |
M0092464 |
JFHFEPIL_00050 |
48768 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
90G>A |
Lys30Lys |
M0092465 |
JFHFEPIL_00050 |
48771 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
93T>C |
Asp31Asp |
M0092466 |
JFHFEPIL_00050 |
48777 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
99C>T |
Ala33Ala |
M0092467 |
JFHFEPIL_00050 |
48783 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
105G>A |
Gly35Gly |
M0092468 |
JFHFEPIL_00050 |
48784 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
106G>A |
Val36Met |
M0092469 |
JFHFEPIL_00050 |
48786 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
108G>A |
Val36Val |
M0092470 |
JFHFEPIL_00050 |
48789 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
111A>T |
Ala37Ala |
M0092471 |
JFHFEPIL_00050 |
48882 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
204C>T |
Gly68Gly |
M0092472 |
JFHFEPIL_00050 |
48894 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
216T>C |
Phe72Phe |
M0092473 |
JFHFEPIL_00050 |
49123 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
445T>C |
Leu149Leu |
M0092474 |
JFHFEPIL_00050 |
49146 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
468T>C |
Asp156Asp |
M0092475 |
JFHFEPIL_00050 |
49256 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
578C>T |
Thr193Ile |
M0092476 |
JFHFEPIL_00050 |
49321 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
643G>A |
Asp215Asn |
M0092477 |
JFHFEPIL_00050 |
49467 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
789T>C |
Leu263Leu |
M0092478 |
JFHFEPIL_00019 |
17698 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
213A>C |
Glu71Asp |
M0092479 |
JFHFEPIL_00019 |
17839 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
72G>T |
Glu24Asp |
M0092480 |
JFHFEPIL_00019 |
17851 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
60T>C |
Ser20Ser |
M0092481 |
JFHFEPIL_00020 |
17966 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1485T>C |
Asn495Asn |
M0092482 |
JFHFEPIL_00020 |
18191 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1260T>C |
Val420Val |
M0092483 |
JFHFEPIL_00020 |
18380 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1071C>A |
Pro357Pro |
M0092484 |
JFHFEPIL_00020 |
18557 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
894C>T |
Ile298Ile |
M0092485 |
JFHFEPIL_00020 |
18641 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
810T>C |
Gly270Gly |
M0092486 |
JFHFEPIL_00020 |
18671 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
780G>A |
Glu260Glu |
M0092487 |
JFHFEPIL_00020 |
19166 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
285G>A |
Pro95Pro |
M0092488 |
JFHFEPIL_00016 |
19584 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4767T>C |
None |
M0092489 |
JFHFEPIL_00016 |
19678 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4861G>T |
None |
M0092490 |
JFHFEPIL_00021 |
20511 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
3005A>G |
His1002Arg |
M0092491 |
JFHFEPIL_00021 |
20564 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2952C>G |
Gly984Gly |
M0092492 |
JFHFEPIL_00021 |
20765 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
2751T>C |
Ser917Ser |
M0092493 |
JFHFEPIL_00021 |
21080 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
2436C>A |
Pro812Pro |
M0092494 |
JFHFEPIL_00021 |
21235 |
8 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
2281A>G |
Ile761Val |
M0092495 |
JFHFEPIL_00021 |
21734 |
8 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1782T>C |
Gly594Gly |
M0092496 |
JFHFEPIL_00021 |
21775 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1741G>T |
Ala581Ser |
M0092497 |
JFHFEPIL_00021 |
21953 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
1563C>T |
Arg521Arg |
M0092498 |
JFHFEPIL_00021 |
22428 |
8 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1088A>G |
Asp363Gly |
M0092499 |
JFHFEPIL_00021 |
22955 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
561C>G |
Ile187Met |
M0092500 |
JFHFEPIL_00021 |
23003 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
513T>C |
Ala171Ala |
M0092501 |
JFHFEPIL_00021 |
23369 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
Thr49Thr |
M0092502 |
JFHFEPIL_00021 |
23399 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
117C>T |
Arg39Arg |
M0092503 |
JFHFEPIL_00020 |
23565 |
5 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4115G>T |
None |
M0092504 |
JFHFEPIL_00013 |
10572 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
270A>G |
Ala90Ala |
M0092505 |
JFHFEPIL_00013 |
10769 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
73C>G |
His25Asp |
M0092506 |
JFHFEPIL_00007 |
10892 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2860C>A |
None |
M0092507 |
JFHFEPIL_00007 |
10906 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2874G>C |
None |
M0092508 |
JFHFEPIL_00007 |
10941 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2909T>G |
None |
M0092509 |
JFHFEPIL_00014 |
11274 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
766A>G |
Ile256Val |
M0092510 |
JFHFEPIL_00014 |
11953 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
87G>A |
Leu29Leu |
M0092511 |
JFHFEPIL_00014 |
11971 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
69C>T |
His23His |
M0092512 |
JFHFEPIL_00022 |
23725 |
11 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1270C>A |
Gln424Lys |
M0092513 |
JFHFEPIL_00022 |
23972 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1023C>T |
Ile341Ile |
M0092514 |
JFHFEPIL_00022 |
23990 |
10 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1005G>A |
Thr335Thr |
M0092515 |
JFHFEPIL_00022 |
24034 |
10 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
961T>G |
Leu321Val |
M0092516 |
JFHFEPIL_00022 |
24047 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
948G>A |
Leu316Leu |
M0092517 |
JFHFEPIL_00022 |
24181 |
10 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
814A>G |
Ile272Val |
M0092518 |
JFHFEPIL_00022 |
24194 |
11 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
801T>C |
Cys267Cys |
M0092519 |
JFHFEPIL_00022 |
24296 |
11 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
699C>T |
His233His |
M0092520 |
JFHFEPIL_00022 |
24305 |
8 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
690G>T |
Gly230Gly |
M0092521 |
JFHFEPIL_00022 |
24326 |
12 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
669A>G |
Ile223Met |
M0092522 |
JFHFEPIL_00022 |
24683 |
8 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
312G>A |
Gln104Gln |
M0092523 |
JFHFEPIL_00022 |
24782 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
213C>T |
Phe71Phe |
M0092524 |
JFHFEPIL_00022 |
24924 |
10 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
71A>G |
Asn24Ser |
M0092525 |
JFHFEPIL_00021 |
25100 |
10 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1585G>A |
None |
M0092526 |
JFHFEPIL_00021 |
25178 |
11 |
Skin |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1663T>C |
None |
M0092527 |
JFHFEPIL_00021 |
25228 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1713G>T |
None |
M0092528 |
JFHFEPIL_00021 |
25258 |
12 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1743A>G |
None |
M0092529 |
JFHFEPIL_00021 |
25300 |
8 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1785A>G |
None |
M0092530 |
JFHFEPIL_00021 |
25338 |
7 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1823C>T |
None |
M0092531 |
JFHFEPIL_00021 |
25341 |
12 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1826C>G |
None |
M0092532 |
JFHFEPIL_00023 |
25695 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1065G>A |
Gly355Gly |
M0092533 |
JFHFEPIL_00023 |
25738 |
8 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1022T>C |
Val341Ala |
M0092534 |
JFHFEPIL_00023 |
25739 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1021G>A |
Val341Ile |
M0092535 |
JFHFEPIL_00023 |
25773 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
987G>C |
Met329Ile |
M0092536 |
JFHFEPIL_00023 |
25776 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
984G>A |
Val328Val |
M0092537 |
JFHFEPIL_00023 |
25779 |
12 |
Skin |
0.19 |
protein_coding |
synonymous_variant |
LOW |
981C>A |
Ala327Ala |
M0092538 |
JFHFEPIL_00023 |
25986 |
9 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
774A>G |
Leu258Leu |
M0092539 |
JFHFEPIL_00023 |
26017 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
743G>T |
Gly248Val |
M0092540 |
JFHFEPIL_00021 |
26864 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3349G>A |
None |
M0092541 |
JFHFEPIL_00021 |
26869 |
14 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3354T>A |
None |
M0092542 |
JFHFEPIL_00024 |
26994 |
14 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
1243A>G |
Thr415Ala |
M0092543 |
JFHFEPIL_00024 |
27144 |
8 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1093C>T |
Leu365Leu |
M0092544 |
JFHFEPIL_00024 |
27151 |
15 |
Skin |
0.23 |
protein_coding |
synonymous_variant |
LOW |
1086T>C |
Gly362Gly |
M0092545 |
JFHFEPIL_00024 |
27258 |
10 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
979A>G |
Thr327Ala |
M0092546 |
JFHFEPIL_00024 |
27354 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
883A>G |
Thr295Ala |
M0092547 |
JFHFEPIL_00024 |
27484 |
15 |
Skin |
0.23 |
protein_coding |
missense_variant |
MODERATE |
753G>T |
Trp251Cys |
M0092548 |
JFHFEPIL_00024 |
27523 |
8 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
714T>C |
Tyr238Tyr |
M0092549 |
JFHFEPIL_00024 |
27693 |
8 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
544T>C |
Leu182Leu |
M0092550 |
JFHFEPIL_00024 |
27950 |
13 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
287G>C |
Ser96Thr |
M0092551 |
JFHFEPIL_00024 |
27966 |
14 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
271A>T |
Ser91Cys |
M0092552 |
JFHFEPIL_00024 |
28120 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
117G>A |
Ser39Ser |
M0092553 |
JFHFEPIL_00024 |
28129 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
108T>C |
Leu36Leu |
M0092554 |
JFHFEPIL_00021 |
28382 |
10 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4867T>C |
None |
M0092555 |
JFHFEPIL_00021 |
28387 |
12 |
Skin |
0.19 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4872A>C |
None |
M0092556 |
JFHFEPIL_00021 |
28395 |
9 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4880A>G |
None |
M0092557 |
JFHFEPIL_00021 |
28396 |
9 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4881T>G |
None |
M0092558 |
JFHFEPIL_00021 |
28434 |
8 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4919G>A |
None |
M0092559 |
JFHFEPIL_00021 |
28454 |
10 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4939C>G |
None |
M0092560 |
JFHFEPIL_00025 |
28508 |
8 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
17G>T |
Cys6Phe |
M0092561 |
JFHFEPIL_00025 |
28548 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
57T>A |
Pro19Pro |
M0092562 |
JFHFEPIL_00025 |
28614 |
13 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
123A>G |
Gly41Gly |
M0092563 |
JFHFEPIL_00025 |
28636 |
10 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
145C>T |
Pro49Ser |
M0092564 |
JFHFEPIL_00025 |
28706 |
11 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
215G>T |
Gly72Val |
M0092565 |
JFHFEPIL_00025 |
28743 |
10 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
252C>T |
Asn84Asn |
M0092566 |
JFHFEPIL_00025 |
28835 |
11 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
344T>C |
Leu115Ser |
M0092567 |
JFHFEPIL_00025 |
28883 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
392A>G |
Asp131Gly |
M0092568 |
JFHFEPIL_00025 |
28915 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
424A>G |
Thr142Ala |
M0092569 |
JFHFEPIL_00025 |
29167 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
676T>G |
Ser226Ala |
M0092570 |
JFHFEPIL_00025 |
29349 |
12 |
Skin |
0.19 |
protein_coding |
missense_variant |
MODERATE |
858T>G |
Asp286Glu |
M0092571 |
JFHFEPIL_00025 |
29404 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
913C>T |
Leu305Leu |
M0092572 |
JFHFEPIL_00025 |
29421 |
11 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
930T>C |
Ala310Ala |
M0092573 |
JFHFEPIL_00025 |
29436 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
945C>T |
His315His |
M0092574 |
JFHFEPIL_00025 |
29622 |
11 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1131A>G |
Ile377Met |
M0092575 |
JFHFEPIL_00025 |
29640 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1149C>A |
Gly383Gly |
M0092576 |
JFHFEPIL_00025 |
29654 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1163G>A |
Arg388Lys |
M0092577 |
JFHFEPIL_00025 |
29870 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1379C>G |
Thr460Arg |
M0092578 |
JFHFEPIL_00025 |
29921 |
10 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1430A>T |
Tyr477Phe |
M0092579 |
JFHFEPIL_00025 |
29961 |
10 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1470T>C |
Leu490Leu |
M0092580 |
JFHFEPIL_00025 |
30117 |
10 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1626A>C |
Leu542Leu |
M0092581 |
JFHFEPIL_00025 |
30175 |
7 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1684G>A |
Asp562Asn |
M0092582 |
JFHFEPIL_00025 |
30210 |
10 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1719A>G |
Glu573Glu |
M0092583 |
JFHFEPIL_00025 |
30390 |
8 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1899C>G |
Leu633Leu |
M0092584 |
JFHFEPIL_00025 |
30585 |
9 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
2094C>T |
Asn698Asn |
M0092585 |
JFHFEPIL_00023 |
30679 |
8 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3920T>G |
None |
M0092586 |
JFHFEPIL_00023 |
30732 |
10 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3973A>G |
None |
M0092587 |
JFHFEPIL_00026 |
31020 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
205G>A |
Val69Met |
M0092588 |
JFHFEPIL_00026 |
31094 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
279G>A |
Val93Val |
M0092589 |
JFHFEPIL_00026 |
31343 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
528C>T |
Asn176Asn |
M0092590 |
JFHFEPIL_00026 |
31376 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
561A>G |
Glu187Glu |
M0092591 |
JFHFEPIL_00026 |
31400 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
585G>A |
Lys195Lys |
M0092592 |
JFHFEPIL_00026 |
31424 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
609G>A |
Leu203Leu |
M0092593 |
JFHFEPIL_00026 |
31448 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
633C>T |
Val211Val |
M0092594 |
JFHFEPIL_00023 |
31476 |
7 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4717C>T |
None |
M0092595 |
JFHFEPIL_00023 |
31537 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4778G>T |
None |
M0092596 |
JFHFEPIL_00027 |
31669 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
78C>T |
Asp26Asp |
M0092597 |
JFHFEPIL_00027 |
31715 |
7 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
124T>C |
Leu42Leu |
M0092598 |
JFHFEPIL_00027 |
31766 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
175T>C |
Leu59Leu |
M0092599 |
JFHFEPIL_00027 |
31879 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
288T>C |
His96His |
M0092600 |
JFHFEPIL_00027 |
31927 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
336G>A |
Leu112Leu |
M0092601 |
JFHFEPIL_00027 |
31987 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
396C>T |
Tyr132Tyr |
M0092602 |
JFHFEPIL_00027 |
32019 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
428C>T |
Pro143Leu |
M0092603 |
JFHFEPIL_00027 |
32149 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
558C>T |
Gly186Gly |
M0092604 |
JFHFEPIL_00024 |
32240 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4004A>C |
None |
M0092605 |
JFHFEPIL_00003 |
7115 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3844A>T |
None |
M0092606 |
JFHFEPIL_00003 |
7153 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3882G>T |
None |
M0092607 |
JFHFEPIL_00003 |
7154 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3883C>T |
None |
M0092608 |
JFHFEPIL_00003 |
7156 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3885C>A |
None |
M0092609 |
JFHFEPIL_00003 |
7159 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3888C>T |
None |
M0092610 |
JFHFEPIL_00003 |
7242 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3971G>C |
None |
M0092611 |
JFHFEPIL_00003 |
7251 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3980C>T |
None |
M0092612 |
JFHFEPIL_00007 |
7303 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
730G>A |
Val244Ile |
M0092613 |
JFHFEPIL_00007 |
7451 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
582A>G |
Lys194Lys |
M0092614 |
JFHFEPIL_00020 |
18857 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
594G>A |
Gly198Gly |
M0092615 |
JFHFEPIL_00021 |
20199 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
3317A>T |
Tyr1106Phe |
M0092616 |
JFHFEPIL_00023 |
25782 |
8 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
978G>A |
Leu326Leu |
M0092617 |
JFHFEPIL_00021 |
26872 |
6 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3357A>G |
None |
M0092618 |
JFHFEPIL_00021 |
26895 |
8 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3380T>C |
None |
M0092619 |
JFHFEPIL_00024 |
27349 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
888C>A |
Asp296Glu |
M0092620 |
JFHFEPIL_00024 |
28021 |
9 |
Skin |
0.14 |
protein_coding |
synonymous_variant |
LOW |
216C>T |
Phe72Phe |
M0092621 |
JFHFEPIL_00024 |
28174 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
63G>A |
Val21Val |
M0092622 |
JFHFEPIL_00021 |
28418 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4903T>C |
None |
M0092623 |
JFHFEPIL_00025 |
28813 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
322G>C |
Glu108Gln |
M0092624 |
JFHFEPIL_00025 |
28987 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
496G>A |
Asp166Asn |
M0092625 |
JFHFEPIL_00025 |
29681 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1190C>A |
Pro397Gln |
M0092626 |
JFHFEPIL_00025 |
30518 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
2027A>C |
His676Pro |
M0092627 |
JFHFEPIL_00054 |
60691 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4240C>A |
None |
M0092628 |
JFHFEPIL_00054 |
60744 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4293C>T |
None |
M0092629 |
JFHFEPIL_00054 |
60752 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4301T>A |
None |
M0092630 |
JFHFEPIL_00054 |
60753 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4302T>C |
None |
M0092631 |
JFHFEPIL_00061 |
61331 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
153G>A |
Glu51Glu |
M0092632 |
JFHFEPIL_00061 |
61343 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
141A>G |
Leu47Leu |
M0092633 |
JFHFEPIL_00024 |
32474 |
6 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4238C>A |
None |
M0092634 |
JFHFEPIL_00028 |
32638 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
844A>G |
Thr282Ala |
M0092635 |
JFHFEPIL_00028 |
32927 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
555T>C |
Arg185Arg |
M0092636 |
JFHFEPIL_00029 |
33521 |
6 |
Skin |
0.09 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
1914A>G |
Ter638Trpext*? |
M0092637 |
JFHFEPIL_00029 |
33974 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1461A>C |
Glu487Asp |
M0092638 |
JFHFEPIL_00029 |
34105 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1330A>G |
Asn444Asp |
M0092639 |
JFHFEPIL_00029 |
34141 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1294G>A |
Val432Ile |
M0092640 |
JFHFEPIL_00029 |
34186 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1249G>C |
Gly417Arg |
M0092641 |
JFHFEPIL_00029 |
34271 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1164C>G |
Thr388Thr |
M0092642 |
JFHFEPIL_00029 |
34599 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
836C>T |
Ala279Val |
M0092643 |
JFHFEPIL_00029 |
34928 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
507A>C |
Ala169Ala |
M0092644 |
JFHFEPIL_00029 |
35074 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
361C>T |
His121Tyr |
M0092645 |
JFHFEPIL_00029 |
35264 |
6 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
171C>T |
Tyr57Tyr |
M0092646 |
JFHFEPIL_00030 |
35664 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
366C>T |
Arg122Arg |
M0092647 |
JFHFEPIL_00028 |
36128 |
5 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2647G>A |
None |
M0092648 |
JFHFEPIL_00016 |
14040 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
778T>C |
Leu260Leu |
M0092649 |
JFHFEPIL_00016 |
14136 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
682A>C |
Asn228His |
M0092650 |
JFHFEPIL_00016 |
14176 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
642A>G |
Lys214Lys |
M0092651 |
JFHFEPIL_00016 |
14311 |
5 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
507A>G |
Leu169Leu |
M0092652 |
JFHFEPIL_00016 |
14348 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
470G>A |
Arg157Gln |
M0092653 |
JFHFEPIL_00016 |
14502 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
316G>A |
Val106Ile |
M0092654 |
JFHFEPIL_00016 |
14503 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
315G>T |
Ala105Ala |
M0092655 |
JFHFEPIL_00016 |
14746 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
72C>A |
Leu24Leu |
M0092656 |
JFHFEPIL_00012 |
14835 |
5 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4517C>A |
None |
M0092657 |
JFHFEPIL_00012 |
14848 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4530C>T |
None |
M0092658 |
JFHFEPIL_00012 |
14908 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4590C>T |
None |
M0092659 |
JFHFEPIL_00012 |
14909 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4591T>C |
None |
M0092660 |
JFHFEPIL_00022 |
23858 |
5 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1137G>T |
Met379Ile |
M0092661 |
JFHFEPIL_00022 |
24043 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
952C>A |
Leu318Met |
M0092662 |
JFHFEPIL_00024 |
28131 |
6 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
106C>A |
Leu36Ile |
M0092663 |
JFHFEPIL_00021 |
28447 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4932G>A |
None |
M0092664 |
JFHFEPIL_00011 |
9606 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
35T>C |
Ile12Thr |
M0092665 |
JFHFEPIL_00012 |
10155 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
164G>T |
Trp55Leu |
M0092666 |
JFHFEPIL_00012 |
10184 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
135A>G |
Leu45Leu |
M0092667 |
JFHFEPIL_00016 |
13559 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1259T>C |
Met420Thr |
M0092668 |
JFHFEPIL_00016 |
13606 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1212C>G |
Phe404Leu |
M0092669 |
JFHFEPIL_00001 |
220 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
120G>A |
Val40Val |
M0092670 |
JFHFEPIL_00001 |
386 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
286T>C |
Leu96Leu |
M0092671 |
JFHFEPIL_00001 |
532 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
432C>T |
Asn144Asn |
M0092672 |
JFHFEPIL_00001 |
757 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
657C>T |
Asp219Asp |
M0092673 |
JFHFEPIL_00025 |
29983 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1492C>A |
Gln498Lys |
M0092674 |
JFHFEPIL_00025 |
30142 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1651C>G |
His551Asp |
M0092675 |
JFHFEPIL_00023 |
31536 |
4 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4777C>A |
None |
M0092676 |
JFHFEPIL_00027 |
32227 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
636A>G |
Thr212Thr |
M0092677 |
JFHFEPIL_00025 |
28589 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
98C>T |
Ala33Val |
M0092678 |
JFHFEPIL_00003 |
2807 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
465A>G |
Ala155Ala |
M0092679 |
JFHFEPIL_00003 |
2903 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
369G>A |
Lys123Lys |
M0092680 |
JFHFEPIL_00003 |
2939 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
333T>C |
Ile111Ile |
M0092681 |
JFHFEPIL_00003 |
2945 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
327T>C |
Ser109Ser |
M0092682 |
JFHFEPIL_00003 |
2999 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
273T>C |
Tyr91Tyr |
M0092683 |
JFHFEPIL_00036 |
39458 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
195A>G |
Ala65Ala |
M0092684 |
JFHFEPIL_00019 |
17766 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
145G>T |
Asp49Tyr |
M0092685 |
JFHFEPIL_00020 |
19364 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
87C>T |
Val29Val |
M0092686 |
JFHFEPIL_00016 |
19731 |
5 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4914C>A |
None |
M0092687 |
JFHFEPIL_00021 |
21719 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1797A>G |
Ala599Ala |
M0092688 |
JFHFEPIL_00050 |
49756 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1078A>C |
Ile360Leu |
M0092689 |
JFHFEPIL_00050 |
49846 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1168A>G |
Thr390Ala |
M0092690 |
JFHFEPIL_00050 |
49941 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1263T>C |
Asn421Asn |
M0092691 |
JFHFEPIL_00050 |
49948 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1270T>C |
Ser424Pro |
M0092692 |
JFHFEPIL_00050 |
49951 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1273G>A |
Ala425Thr |
M0092693 |
JFHFEPIL_00050 |
50057 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1379A>G |
His460Arg |
M0092694 |
JFHFEPIL_00050 |
50062 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
1384G>A |
Val462Ile |
M0092695 |
JFHFEPIL_00050 |
50063 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1385T>C |
Val462Ala |
M0092696 |
JFHFEPIL_00050 |
50065 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1387G>T |
Asp463Tyr |
M0092697 |
JFHFEPIL_00050 |
50068 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1390G>C |
Glu464Gln |
M0092698 |
JFHFEPIL_00050 |
50075 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1397A>G |
Glu466Gly |
M0092699 |
JFHFEPIL_00050 |
50326 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1648A>G |
Asn550Asp |
M0092700 |
JFHFEPIL_00050 |
50646 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1968A>G |
Gln656Gln |
M0092701 |
JFHFEPIL_00050 |
50697 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
2019C>A |
Asn673Lys |
M0092702 |
JFHFEPIL_00050 |
50826 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
2148A>G |
Gln716Gln |
M0092703 |
JFHFEPIL_00002 |
1388 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
456A>G |
Lys152Lys |
M0092704 |
JFHFEPIL_00002 |
1505 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
573C>G |
Ser191Ser |
M0092705 |
JFHFEPIL_00002 |
1583 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
651T>C |
Ser217Ser |
M0092706 |
JFHFEPIL_00002 |
1627 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
695G>A |
Arg232Lys |
M0092707 |
JFHFEPIL_00004 |
1934 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1840C>T |
None |
M0092708 |
JFHFEPIL_00004 |
1939 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1835G>T |
None |
M0092709 |
JFHFEPIL_00004 |
1954 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1820G>A |
None |
M0092710 |
JFHFEPIL_00004 |
1961 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1813T>C |
None |
M0092711 |
JFHFEPIL_00003 |
2174 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1098A>G |
Leu366Leu |
M0092712 |
JFHFEPIL_00003 |
2390 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
882C>A |
Ile294Ile |
M0092713 |
JFHFEPIL_00003 |
2445 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
827T>C |
Val276Ala |
M0092714 |
JFHFEPIL_00003 |
2490 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
782T>C |
Leu261Ser |
M0092715 |
JFHFEPIL_00003 |
2590 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
682A>G |
Ser228Gly |
M0092716 |
JFHFEPIL_00053 |
54894 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
567C>T |
Phe189Phe |
M0092717 |
JFHFEPIL_00053 |
54921 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
540C>T |
Asn180Asn |
M0092718 |
JFHFEPIL_00053 |
54947 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
514T>C |
Ser172Pro |
M0092719 |
JFHFEPIL_00053 |
54969 |
4 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
492T>C |
Ile164Ile |
M0092720 |
JFHFEPIL_00053 |
55271 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
190C>G |
Gln64Glu |
M0092721 |
JFHFEPIL_00054 |
55510 |
4 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
942G>T |
Lys314Asn |
M0092722 |
JFHFEPIL_00054 |
55566 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
886T>C |
Ser296Pro |
M0092723 |
JFHFEPIL_00054 |
55698 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
754C>T |
Leu252Leu |
M0092724 |
JFHFEPIL_00054 |
55771 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
681T>A |
Arg227Arg |
M0092725 |
JFHFEPIL_00054 |
55772 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
680G>A |
Arg227His |
M0092726 |
JFHFEPIL_00054 |
55777 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
675C>T |
Ala225Ala |
M0092727 |
JFHFEPIL_00054 |
55961 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
491G>A |
Ser164Asn |
M0092728 |
JFHFEPIL_00021 |
19772 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
3744T>C |
Arg1248Arg |
M0092729 |
JFHFEPIL_00020 |
23578 |
3 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4128G>A |
None |
M0092730 |
JFHFEPIL_00024 |
27645 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
592A>G |
Ser198Gly |
M0092731 |
JFHFEPIL_00024 |
27814 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
423A>G |
Gly141Gly |
M0092732 |
JFHFEPIL_00024 |
27828 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
409A>G |
Ile137Val |
M0092733 |
JFHFEPIL_00026 |
31106 |
3 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
291T>C |
Ser97Ser |
M0092734 |
JFHFEPIL_00026 |
31116 |
3 |
Skin |
0.05 |
protein_coding |
missense_variant |
MODERATE |
301A>C |
Lys101Gln |
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 |
JFHFEPIL_00020 |
PHI:10513 |
narH |
73.5 |
1.1e-233 |
1 |
511 |
0.9980 |
0.9941 |
rodents |
urinary tract infection |
respiratory nitrate reductase 1 beta chain |
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 |
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 |
JFHFEPIL_00020 |
5.A.3.1.1 |
73.5 |
2.5e-233 |
1 |
511 |
0.9980 |
2.2622 |
5 |
Transmembrane Electron Carriers |
5.A |
Transmembrane 2-electron transfer carriers |
5.A.3 |
The Prokaryotic Molybdopterin-containing Oxidoreductase (PMO) Family |