Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C1803 |
Reference Plasmid |
1111525849645395_bin.4__k141_365696 |
Reference Plasmid Size |
121754 |
Reference Plasmid GC Content |
0.32 |
Reference Plasmid Mobility Type |
non-mobilizable |
Mutation sites in the plasmid cluster
The table lists mutations identified in the plasmid cluster.
Note: Mutations identified in this plasmid cluster are listed below. Click on a mutation ID to view full details..
mutid |
gname |
pos |
count |
tissue |
frequnt |
biotype |
consequence |
impact |
nucchange |
aachange |
M0016556 |
JMLEJLIO_00053 |
45399 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
130A>G |
Lys44Glu |
M0016557 |
JMLEJLIO_00053 |
45400 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
131A>C |
Lys44Thr |
M0016558 |
JMLEJLIO_00054 |
45506 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-137T>G |
None |
M0016559 |
JMLEJLIO_00054 |
45526 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-117T>C |
None |
M0016560 |
JMLEJLIO_00054 |
45550 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-93A>C |
None |
M0016561 |
JMLEJLIO_00054 |
45611 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-32G>A |
None |
M0016562 |
JMLEJLIO_00054 |
45745 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
103A>G |
Lys35Glu |
M0016563 |
JMLEJLIO_00054 |
45787 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
145A>G |
Thr49Ala |
M0016564 |
JMLEJLIO_00054 |
45800 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
158A>G |
Asn53Ser |
M0016565 |
JMLEJLIO_00054 |
45888 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
246C>T |
Asn82Asn |
M0016566 |
JMLEJLIO_00054 |
45899 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
257T>C |
Leu86Ser |
M0016567 |
JMLEJLIO_00054 |
45935 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
293T>G |
Leu98Arg |
M0016568 |
JMLEJLIO_00055 |
45987 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-75T>C |
None |
M0016569 |
JMLEJLIO_00055 |
46017 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-45A>G |
None |
M0016570 |
JMLEJLIO_00055 |
46020 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-42T>A |
None |
M0016571 |
JMLEJLIO_00055 |
46149 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
88G>A |
Glu30Lys |
M0016572 |
JMLEJLIO_00055 |
46204 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
143C>T |
Ser48Leu |
M0016573 |
JMLEJLIO_00055 |
46307 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
246A>C |
Gln82His |
M0016574 |
JMLEJLIO_00055 |
46323 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
262C>A |
Leu88Ile |
M0016575 |
JMLEJLIO_00055 |
46364 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
303A>G |
Gly101Gly |
M0016576 |
JMLEJLIO_00055 |
46378 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
317T>C |
Val106Ala |
M0016577 |
JMLEJLIO_00055 |
46407 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
346G>A |
Gly116Ser |
M0016578 |
JMLEJLIO_00055 |
46430 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
369A>G |
Leu123Leu |
M0016579 |
JMLEJLIO_00055 |
46600 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
539C>T |
Thr180Ile |
M0016580 |
JMLEJLIO_00055 |
46613 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
552T>C |
Ser184Ser |
M0016581 |
JMLEJLIO_00055 |
46625 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
564T>C |
Tyr188Tyr |
M0016582 |
JMLEJLIO_00055 |
46662 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
601A>C |
Thr201Pro |
M0016583 |
JMLEJLIO_00055 |
46670 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
609T>C |
Asn203Asn |
M0016584 |
JMLEJLIO_00056 |
47225 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
214A>C |
Thr72Pro |
M0016585 |
JMLEJLIO_00056 |
47276 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
265C>T |
His89Tyr |
M0016586 |
JMLEJLIO_00056 |
47394 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
383T>C |
Leu128Ser |
M0016587 |
JMLEJLIO_00056 |
47401 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
390T>C |
Phe130Phe |
M0016588 |
JMLEJLIO_00056 |
47434 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
423T>C |
Asp141Asp |
M0016589 |
JMLEJLIO_00057 |
47446 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-98T>C |
None |
M0016590 |
JMLEJLIO_00057 |
47460 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-84A>G |
None |
M0016591 |
JMLEJLIO_00057 |
47477 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-67T>G |
None |
M0016592 |
JMLEJLIO_00057 |
47627 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
84G>A |
Thr28Thr |
M0016593 |
JMLEJLIO_00057 |
47879 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
336A>G |
Arg112Arg |
M0016594 |
JMLEJLIO_00057 |
48152 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
609A>G |
Lys203Lys |
M0016595 |
JMLEJLIO_00057 |
48218 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
675T>C |
Tyr225Tyr |
M0016596 |
JMLEJLIO_00057 |
48232 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
689G>A |
Ser230Asn |
M0016597 |
JMLEJLIO_00057 |
48234 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
691T>C |
Ser231Pro |
M0016598 |
JMLEJLIO_00057 |
48281 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
738T>C |
Ala246Ala |
M0016599 |
JMLEJLIO_00065 |
53955 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
142C>T |
His48Tyr |
M0016600 |
JMLEJLIO_00065 |
53979 |
3 |
Skin |
0.07 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
166T>C |
Ter56Glnext*? |
M0016601 |
JMLEJLIO_00066 |
54003 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
22A>T |
Thr8Ser |
M0016602 |
JMLEJLIO_00066 |
54176 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
195T>C |
Asp65Asp |
M0016603 |
JMLEJLIO_00066 |
54184 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
203T>C |
Ile68Thr |
M0016604 |
JMLEJLIO_00062 |
54354 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2165A>C |
None |
M0016605 |
JMLEJLIO_00062 |
54421 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2232C>T |
None |
M0016606 |
JMLEJLIO_00062 |
54481 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2292T>C |
None |
M0016607 |
JMLEJLIO_00062 |
54496 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2307A>G |
None |
M0016608 |
JMLEJLIO_00062 |
54520 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2331A>G |
None |
M0016609 |
JMLEJLIO_00062 |
54564 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2375G>A |
None |
M0016610 |
JMLEJLIO_00067 |
54600 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
7G>T |
Asp3Tyr |
M0016611 |
JMLEJLIO_00067 |
54618 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
25T>A |
Ser9Thr |
M0016612 |
JMLEJLIO_00067 |
54652 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
59C>T |
Ala20Val |
M0016613 |
JMLEJLIO_00067 |
54683 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
90C>T |
Ser30Ser |
M0016614 |
JMLEJLIO_00067 |
54817 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
224C>T |
Ser75Leu |
M0016615 |
JMLEJLIO_00067 |
54834 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
241G>A |
Glu81Lys |
M0016616 |
JMLEJLIO_00067 |
54883 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
290T>A |
Met97Lys |
M0016617 |
JMLEJLIO_00067 |
54889 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
296T>C |
Ile99Thr |
M0016618 |
JMLEJLIO_00067 |
55053 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
460C>T |
His154Tyr |
M0016619 |
JMLEJLIO_00067 |
55066 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
473G>A |
Gly158Asp |
M0016620 |
JMLEJLIO_00067 |
55076 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
483T>C |
Val161Val |
M0016621 |
JMLEJLIO_00067 |
55077 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
484A>G |
Thr162Ala |
M0016622 |
JMLEJLIO_00067 |
55094 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
501A>G |
Ile167Met |
M0016623 |
JMLEJLIO_00067 |
55100 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
507C>T |
Ile169Ile |
M0016624 |
JMLEJLIO_00068 |
55193 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
79T>G |
Tyr27Asp |
M0016625 |
JMLEJLIO_00068 |
55197 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
83T>C |
Val28Ala |
M0016626 |
JMLEJLIO_00068 |
55307 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
193C>T |
Leu65Phe |
M0016627 |
JMLEJLIO_00068 |
55409 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
295T>A |
Trp99Arg |
M0016628 |
JMLEJLIO_00068 |
55431 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
317G>A |
Arg106Gln |
M0016629 |
JMLEJLIO_00068 |
55452 |
3 |
Skin |
0.07 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
338A>T |
Ter113Leuext*? |
M0016630 |
JMLEJLIO_00062 |
55486 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3297G>A |
None |
M0016631 |
JMLEJLIO_00062 |
55497 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3308G>A |
None |
M0016632 |
JMLEJLIO_00062 |
55507 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3318T>C |
None |
M0016633 |
JMLEJLIO_00062 |
55510 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3321C>T |
None |
M0016634 |
JMLEJLIO_00062 |
55557 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3368A>C |
None |
M0016635 |
JMLEJLIO_00062 |
55584 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3395G>T |
None |
M0016636 |
JMLEJLIO_00062 |
55595 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3406T>C |
None |
M0016637 |
JMLEJLIO_00062 |
55631 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3442G>A |
None |
M0016638 |
JMLEJLIO_00062 |
55721 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3532G>T |
None |
M0016639 |
JMLEJLIO_00069 |
55768 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
24T>A |
Phe8Leu |
M0016640 |
JMLEJLIO_00069 |
55772 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
28T>A |
Leu10Ile |
M0016641 |
JMLEJLIO_00062 |
55854 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3665T>A |
None |
M0016642 |
JMLEJLIO_00062 |
56030 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3841C>A |
None |
M0016643 |
JMLEJLIO_00070 |
56089 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
49C>T |
Leu17Phe |
M0016644 |
JMLEJLIO_00070 |
56201 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
161A>G |
Asp54Gly |
M0016645 |
JMLEJLIO_00070 |
56258 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
218A>T |
Lys73Met |
M0016646 |
JMLEJLIO_00070 |
56296 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
256G>A |
Asp86Asn |
M0016647 |
JMLEJLIO_00070 |
56333 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
293T>C |
Val98Ala |
M0016648 |
JMLEJLIO_00070 |
56373 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
333G>T |
Arg111Ser |
M0016649 |
JMLEJLIO_00070 |
56387 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
347T>A |
Ile116Asn |
M0016650 |
JMLEJLIO_00070 |
56451 |
4 |
Skin |
0.09 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
411A>T |
Ter137Tyrext*? |
M0016651 |
JMLEJLIO_00062 |
56473 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4284G>A |
None |
M0016652 |
JMLEJLIO_00071 |
56576 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
95G>A |
Arg32Lys |
M0016653 |
JMLEJLIO_00071 |
56581 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
100T>G |
Ser34Ala |
M0016654 |
JMLEJLIO_00071 |
56583 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
102T>G |
Ser34Ser |
M0016655 |
JMLEJLIO_00071 |
56632 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
151T>C |
Cys51Arg |
M0016656 |
JMLEJLIO_00042 |
33892 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
159G>A |
Glu53Glu |
M0016657 |
JMLEJLIO_00032 |
28369 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3993A>G |
None |
M0016658 |
JMLEJLIO_00032 |
28464 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4088G>A |
None |
M0016659 |
JMLEJLIO_00032 |
28476 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4100C>T |
None |
M0016660 |
JMLEJLIO_00032 |
28477 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4101T>G |
None |
M0016661 |
JMLEJLIO_00032 |
28481 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4105C>T |
None |
M0016662 |
JMLEJLIO_00032 |
28496 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4120C>A |
None |
M0016663 |
JMLEJLIO_00035 |
28554 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
23C>T |
Ala8Val |
M0016664 |
JMLEJLIO_00035 |
28602 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
71G>T |
Arg24Met |
M0016665 |
JMLEJLIO_00035 |
28613 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
82C>A |
Arg28Ser |
M0016666 |
JMLEJLIO_00035 |
28623 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
92C>T |
Ala31Val |
M0016667 |
JMLEJLIO_00035 |
28627 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
96G>A |
Gln32Gln |
M0016668 |
JMLEJLIO_00032 |
28697 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4321A>G |
None |
M0016669 |
JMLEJLIO_00032 |
28833 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4457A>G |
None |
M0016670 |
JMLEJLIO_00036 |
28911 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
6T>C |
Ala2Ala |
M0016671 |
JMLEJLIO_00036 |
28928 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
23G>T |
Gly8Val |
M0016672 |
JMLEJLIO_00036 |
28955 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
50G>A |
Gly17Glu |
M0016673 |
JMLEJLIO_00036 |
28979 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
74C>A |
Ala25Asp |
M0016674 |
JMLEJLIO_00036 |
29025 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
120A>T |
Lys40Asn |
M0016675 |
JMLEJLIO_00036 |
29055 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
150C>T |
Gly50Gly |
M0016676 |
JMLEJLIO_00036 |
29105 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
200T>C |
Val67Ala |
M0016677 |
JMLEJLIO_00036 |
29120 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
215T>C |
Val72Ala |
M0016678 |
JMLEJLIO_00036 |
29156 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
251A>G |
Tyr84Cys |
M0016679 |
JMLEJLIO_00037 |
29361 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
193G>A |
Val65Ile |
M0016680 |
JMLEJLIO_00037 |
29402 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
234C>T |
Phe78Phe |
M0016681 |
JMLEJLIO_00038 |
29513 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
76C>T |
Leu26Phe |
M0016682 |
JMLEJLIO_00038 |
29519 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
82T>A |
Cys28Ser |
M0016683 |
JMLEJLIO_00038 |
29585 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
148T>A |
Phe50Ile |
M0016684 |
JMLEJLIO_00038 |
29604 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
167G>A |
Arg56His |
M0016685 |
JMLEJLIO_00038 |
29648 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
211A>G |
Ile71Val |
M0016686 |
JMLEJLIO_00038 |
29655 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
218A>G |
Asp73Gly |
M0016687 |
JMLEJLIO_00038 |
29777 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
340C>T |
Pro114Ser |
M0016688 |
JMLEJLIO_00038 |
29778 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
341C>T |
Pro114Leu |
M0016689 |
JMLEJLIO_00038 |
29780 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
343T>C |
Tyr115His |
M0016690 |
JMLEJLIO_00038 |
29791 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
354C>A |
Ile118Ile |
M0016691 |
JMLEJLIO_00038 |
29866 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
429T>C |
Ala143Ala |
M0016692 |
JMLEJLIO_00038 |
30012 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
575T>G |
Leu192Trp |
M0016693 |
JMLEJLIO_00038 |
30022 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
585C>G |
Leu195Leu |
M0016694 |
JMLEJLIO_00038 |
30023 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
586G>A |
Val196Ile |
M0016695 |
JMLEJLIO_00038 |
30094 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
657C>T |
Asp219Asp |
M0016696 |
JMLEJLIO_00038 |
30122 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
685A>G |
Asn229Asp |
M0016697 |
JMLEJLIO_00033 |
30187 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3851A>C |
None |
M0016698 |
JMLEJLIO_00033 |
30259 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3923C>T |
None |
M0016699 |
JMLEJLIO_00033 |
30344 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4008T>C |
None |
M0016700 |
JMLEJLIO_00033 |
30543 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4207A>G |
None |
M0016701 |
JMLEJLIO_00033 |
30586 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4250T>C |
None |
M0016702 |
JMLEJLIO_00033 |
30620 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4284T>C |
None |
M0016703 |
JMLEJLIO_00033 |
30652 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4316T>G |
None |
M0016704 |
JMLEJLIO_00033 |
30685 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4349T>A |
None |
M0016705 |
JMLEJLIO_00033 |
30692 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4356G>A |
None |
M0016706 |
JMLEJLIO_00033 |
30700 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4364A>T |
None |
M0016707 |
JMLEJLIO_00033 |
30735 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4399G>A |
None |
M0016708 |
JMLEJLIO_00033 |
30743 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4407A>G |
None |
M0016709 |
JMLEJLIO_00039 |
30800 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
101C>T |
Ala34Val |
M0016710 |
JMLEJLIO_00039 |
30812 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
89T>C |
Val30Ala |
M0016711 |
JMLEJLIO_00039 |
30826 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
75G>A |
Met25Ile |
M0016712 |
JMLEJLIO_00039 |
30828 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
73A>G |
Met25Val |
M0016713 |
JMLEJLIO_00039 |
30862 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
39C>T |
Asn13Asn |
M0016714 |
JMLEJLIO_00033 |
30930 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4594A>T |
None |
M0016715 |
JMLEJLIO_00033 |
30936 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4600G>A |
None |
M0016716 |
JMLEJLIO_00033 |
30989 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4653A>C |
None |
M0016717 |
JMLEJLIO_00033 |
30997 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4661T>G |
None |
M0016718 |
JMLEJLIO_00033 |
31006 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4670A>C |
None |
M0016719 |
JMLEJLIO_00033 |
31007 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4671T>C |
None |
M0016720 |
JMLEJLIO_00033 |
31031 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4695A>G |
None |
M0016721 |
JMLEJLIO_00033 |
31032 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4696T>G |
None |
M0016722 |
JMLEJLIO_00033 |
31061 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4725A>T |
None |
M0016723 |
JMLEJLIO_00033 |
31074 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4738C>T |
None |
M0016724 |
JMLEJLIO_00058 |
48817 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
225C>T |
Ile75Ile |
M0016725 |
JMLEJLIO_00058 |
48825 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
233C>T |
Ala78Val |
M0016726 |
JMLEJLIO_00058 |
48976 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
384T>C |
Phe128Phe |
M0016727 |
JMLEJLIO_00059 |
49096 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
6A>T |
Thr2Thr |
M0016728 |
JMLEJLIO_00059 |
49148 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
58A>G |
Met20Val |
M0016729 |
JMLEJLIO_00059 |
49214 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
124C>T |
Leu42Leu |
M0016730 |
JMLEJLIO_00060 |
49244 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-86G>C |
None |
M0016731 |
JMLEJLIO_00061 |
50005 |
6 |
Skin |
0.14 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-58G>A |
None |
M0016732 |
JMLEJLIO_00074 |
57576 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-322T>C |
None |
M0016733 |
JMLEJLIO_00098 |
83376 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-62T>C |
None |
M0016734 |
JMLEJLIO_00098 |
83447 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
10G>A |
Val4Ile |
M0016735 |
JMLEJLIO_00098 |
83463 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
26C>T |
Ser9Leu |
M0016736 |
JMLEJLIO_00098 |
83494 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
57G>A |
Lys19Lys |
M0016737 |
JMLEJLIO_00098 |
83495 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
58A>G |
Ile20Val |
M0016738 |
JMLEJLIO_00098 |
83541 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
104G>A |
Arg35Lys |
M0016739 |
JMLEJLIO_00098 |
83542 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
105G>T |
Arg35Ser |
M0016740 |
JMLEJLIO_00098 |
83555 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
118G>A |
Glu40Lys |
M0016741 |
JMLEJLIO_00098 |
83588 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
151A>G |
Lys51Glu |
M0016742 |
JMLEJLIO_00098 |
83604 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
167A>G |
Asn56Ser |
M0016743 |
JMLEJLIO_00098 |
83644 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
207T>G |
Cys69Trp |
M0016744 |
JMLEJLIO_00098 |
83688 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
251A>G |
Asn84Ser |
M0016745 |
JMLEJLIO_00098 |
83716 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
279C>T |
Ser93Ser |
M0016746 |
JMLEJLIO_00098 |
83728 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
291C>T |
Val97Val |
M0016747 |
JMLEJLIO_00098 |
83784 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
347G>A |
Ser116Asn |
M0016748 |
JMLEJLIO_00098 |
83825 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
388C>T |
Pro130Ser |
M0016749 |
JMLEJLIO_00098 |
83854 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
417A>C |
Leu139Leu |
M0016750 |
JMLEJLIO_00098 |
83888 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
451A>G |
Thr151Ala |
M0016751 |
JMLEJLIO_00098 |
83909 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
472A>G |
Ile158Val |
M0016752 |
JMLEJLIO_00098 |
83957 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
520A>G |
Thr174Ala |
M0016753 |
JMLEJLIO_00098 |
83964 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
527T>C |
Val176Ala |
M0016754 |
JMLEJLIO_00099 |
84161 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
188A>G |
Asn63Ser |
M0016755 |
JMLEJLIO_00099 |
84162 |
7 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
189T>G |
Asn63Lys |
M0016756 |
JMLEJLIO_00099 |
84219 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
246A>G |
Val82Val |
M0016757 |
JMLEJLIO_00099 |
84322 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
349T>A |
Cys117Ser |
M0016758 |
JMLEJLIO_00099 |
84332 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
359T>C |
Val120Ala |
M0016759 |
JMLEJLIO_00099 |
84345 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
372C>T |
Phe124Phe |
M0016760 |
JMLEJLIO_00099 |
84386 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
413A>G |
Asp138Gly |
M0016761 |
JMLEJLIO_00099 |
84463 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
490T>C |
Tyr164His |
M0016762 |
JMLEJLIO_00099 |
84576 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
603A>G |
Gln201Gln |
M0016763 |
JMLEJLIO_00099 |
84586 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
613C>A |
Gln205Lys |
M0016764 |
JMLEJLIO_00099 |
84606 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
633G>A |
Glu211Glu |
M0016765 |
JMLEJLIO_00100 |
84623 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
6G>A |
Gly2Gly |
M0016766 |
JMLEJLIO_00100 |
84633 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
16T>A |
Ser6Thr |
M0016767 |
JMLEJLIO_00100 |
84652 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
35C>T |
Ala12Val |
M0016768 |
JMLEJLIO_00100 |
84655 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
38T>C |
Leu13Pro |
M0016769 |
JMLEJLIO_00100 |
84687 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
70C>T |
Leu24Phe |
M0016770 |
JMLEJLIO_00100 |
84699 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
82C>T |
Pro28Ser |
M0016771 |
JMLEJLIO_00100 |
84710 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
93G>A |
Leu31Leu |
M0016772 |
JMLEJLIO_00100 |
84789 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
172A>G |
Asn58Asp |
M0016773 |
JMLEJLIO_00100 |
84801 |
3 |
Skin |
0.07 |
protein_coding |
stop_gained |
HIGH |
184A>T |
Lys62* |
M0016774 |
JMLEJLIO_00100 |
84831 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
214C>A |
Gln72Lys |
M0016775 |
JMLEJLIO_00100 |
84852 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
235G>A |
Val79Ile |
M0016776 |
JMLEJLIO_00100 |
84878 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
261T>C |
Asn87Asn |
M0016777 |
JMLEJLIO_00100 |
84884 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
267G>A |
Gln89Gln |
M0016778 |
JMLEJLIO_00100 |
84969 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
352T>A |
Phe118Ile |
M0016779 |
JMLEJLIO_00100 |
84979 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
362C>T |
Ala121Val |
M0016780 |
JMLEJLIO_00100 |
84995 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
378T>C |
Ile126Ile |
M0016781 |
JMLEJLIO_00100 |
85010 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
393A>G |
Glu131Glu |
M0016782 |
JMLEJLIO_00100 |
85013 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
396T>C |
Ala132Ala |
M0016783 |
JMLEJLIO_00100 |
85014 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
397G>A |
Glu133Lys |
M0016784 |
JMLEJLIO_00100 |
85029 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
412G>T |
Asp138Tyr |
M0016785 |
JMLEJLIO_00100 |
85056 |
3 |
Skin |
0.07 |
protein_coding |
stop_gained |
HIGH |
439A>T |
Lys147* |
M0016786 |
JMLEJLIO_00100 |
85120 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
503T>C |
Ile168Thr |
M0016787 |
JMLEJLIO_00100 |
85122 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
505A>G |
Asn169Asp |
M0016788 |
JMLEJLIO_00100 |
85206 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
589T>C |
Ser197Pro |
M0016789 |
JMLEJLIO_00100 |
85260 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
643A>G |
Ser215Gly |
M0016790 |
JMLEJLIO_00100 |
85264 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
647T>C |
Val216Ala |
M0016791 |
JMLEJLIO_00100 |
85298 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
681G>A |
Met227Ile |
M0016792 |
JMLEJLIO_00100 |
85552 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
935A>G |
Gln312Arg |
M0016793 |
JMLEJLIO_00100 |
85581 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
964G>T |
Asp322Tyr |
M0016794 |
JMLEJLIO_00100 |
85681 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1064T>C |
Met355Thr |
M0016795 |
JMLEJLIO_00100 |
85710 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1093G>A |
Glu365Lys |
M0016796 |
JMLEJLIO_00101 |
85766 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-26A>T |
None |
M0016797 |
JMLEJLIO_00101 |
85780 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-12G>T |
None |
M0016798 |
JMLEJLIO_00101 |
85806 |
3 |
Skin |
0.07 |
protein_coding |
stop_gained |
HIGH |
15T>G |
Tyr5* |
M0016799 |
JMLEJLIO_00101 |
85854 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
63C>A |
Ser21Arg |
M0016800 |
JMLEJLIO_00101 |
85907 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
116G>A |
Arg39Lys |
M0016801 |
JMLEJLIO_00102 |
86117 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
223T>C |
Tyr75His |
M0016802 |
JMLEJLIO_00102 |
86191 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
297T>C |
Leu99Leu |
M0016803 |
JMLEJLIO_00102 |
86222 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
328C>T |
Leu110Phe |
M0016804 |
JMLEJLIO_00102 |
86275 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
381A>G |
Glu127Glu |
M0016805 |
JMLEJLIO_00102 |
86277 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
383T>C |
Val128Ala |
M0016806 |
JMLEJLIO_00102 |
86317 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
423T>A |
Phe141Leu |
M0016807 |
JMLEJLIO_00102 |
86382 |
4 |
Skin |
0.09 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
488A>G |
Ter163Trpext*? |
M0016808 |
JMLEJLIO_00103 |
86530 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
54T>C |
Phe18Phe |
M0016809 |
JMLEJLIO_00103 |
86542 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
66T>C |
Ala22Ala |
M0016810 |
JMLEJLIO_00103 |
86659 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
183T>C |
Tyr61Tyr |
M0016811 |
JMLEJLIO_00103 |
86671 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
195G>A |
Met65Ile |
M0016812 |
JMLEJLIO_00103 |
86764 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
288A>G |
Lys96Lys |
M0016813 |
JMLEJLIO_00103 |
86823 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
347T>C |
Ile116Thr |
M0016814 |
JMLEJLIO_00103 |
86846 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
370A>G |
Ser124Gly |
M0016815 |
JMLEJLIO_00103 |
86888 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
412A>G |
Ile138Val |
M0016816 |
JMLEJLIO_00103 |
86975 |
4 |
Skin |
0.09 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
499T>C |
Ter167Argext*? |
M0016817 |
JMLEJLIO_00104 |
86980 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-446C>T |
None |
M0016818 |
JMLEJLIO_00104 |
87036 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-390C>T |
None |
M0016819 |
JMLEJLIO_00104 |
87119 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-307A>T |
None |
M0016820 |
JMLEJLIO_00104 |
87150 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-276A>G |
None |
M0016821 |
JMLEJLIO_00104 |
87197 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-229G>T |
None |
M0016822 |
JMLEJLIO_00104 |
87201 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-225G>A |
None |
M0016823 |
JMLEJLIO_00104 |
87293 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-133C>T |
None |
M0016824 |
JMLEJLIO_00104 |
87313 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-113A>T |
None |
M0016825 |
JMLEJLIO_00104 |
87317 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-109G>A |
None |
M0016826 |
JMLEJLIO_00104 |
87331 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-95G>A |
None |
M0016827 |
JMLEJLIO_00104 |
87367 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-59G>A |
None |
M0016828 |
JMLEJLIO_00104 |
87400 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-26T>C |
None |
M0016829 |
JMLEJLIO_00104 |
87469 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
44A>C |
Tyr15Ser |
M0016830 |
JMLEJLIO_00104 |
87518 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
93T>C |
Asp31Asp |
M0016831 |
JMLEJLIO_00104 |
87544 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
119T>C |
Phe40Ser |
M0016832 |
JMLEJLIO_00104 |
87674 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
249C>A |
Val83Val |
M0016833 |
JMLEJLIO_00104 |
87782 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
357T>A |
Ala119Ala |
M0016834 |
JMLEJLIO_00104 |
87802 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
377T>A |
Ile126Lys |
M0016835 |
JMLEJLIO_00104 |
87950 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
525C>A |
Asn175Lys |
M0016836 |
JMLEJLIO_00104 |
87951 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
526T>G |
Phe176Val |
M0016837 |
JMLEJLIO_00105 |
88063 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-53C>A |
None |
M0016838 |
JMLEJLIO_00105 |
88092 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-24G>A |
None |
M0016839 |
JMLEJLIO_00105 |
88094 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-22A>G |
None |
M0016840 |
JMLEJLIO_00105 |
88188 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
73A>C |
Lys25Gln |
M0016841 |
JMLEJLIO_00105 |
88340 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
225G>A |
Arg75Arg |
M0016842 |
JMLEJLIO_00105 |
88472 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
357C>A |
His119Gln |
M0016843 |
JMLEJLIO_00106 |
88567 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-234C>G |
None |
M0016844 |
JMLEJLIO_00106 |
88575 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-226A>G |
None |
M0016845 |
JMLEJLIO_00106 |
88592 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-209C>T |
None |
M0016846 |
JMLEJLIO_00106 |
88600 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-201C>T |
None |
M0016847 |
JMLEJLIO_00106 |
88609 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-192G>A |
None |
M0016848 |
JMLEJLIO_00106 |
88623 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-178G>A |
None |
M0016849 |
JMLEJLIO_00106 |
88837 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
37T>A |
Phe13Ile |
M0016850 |
JMLEJLIO_00106 |
88963 |
4 |
Skin |
0.09 |
protein_coding |
stop_gained |
HIGH |
163G>T |
Glu55* |
M0016851 |
JMLEJLIO_00106 |
89005 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
205G>A |
Gly69Ser |
M0016852 |
JMLEJLIO_00106 |
89029 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
229A>T |
Asn77Tyr |
M0016853 |
JMLEJLIO_00106 |
89034 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
234T>C |
Asp78Asp |
M0016854 |
JMLEJLIO_00106 |
89035 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
235A>T |
Ser79Cys |
M0016855 |
JMLEJLIO_00106 |
89038 |
4 |
Skin |
0.09 |
protein_coding |
stop_gained |
HIGH |
238A>T |
Arg80* |
M0016856 |
JMLEJLIO_00106 |
89064 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
264T>C |
Leu88Leu |
M0016857 |
JMLEJLIO_00106 |
89132 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
332T>C |
Leu111Ser |
M0016858 |
JMLEJLIO_00106 |
89152 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
352G>A |
Val118Ile |
M0016859 |
JMLEJLIO_00106 |
89159 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
359A>G |
Asn120Ser |
M0016860 |
JMLEJLIO_00106 |
89356 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
556C>T |
Pro186Ser |
M0016861 |
JMLEJLIO_00106 |
89385 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
585A>C |
Lys195Asn |
M0016862 |
JMLEJLIO_00106 |
89431 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
631T>C |
Leu211Leu |
M0016863 |
JMLEJLIO_00106 |
89504 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
704C>T |
Thr235Ile |
M0016864 |
JMLEJLIO_00106 |
89519 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
719T>C |
Phe240Ser |
M0016865 |
JMLEJLIO_00106 |
89606 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
806G>T |
Arg269Ile |
M0016866 |
JMLEJLIO_00106 |
89645 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
845A>C |
Asn282Thr |
M0016867 |
JMLEJLIO_00106 |
89646 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
846C>T |
Asn282Asn |
M0016868 |
JMLEJLIO_00106 |
89681 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
881A>G |
Asp294Gly |
M0016869 |
JMLEJLIO_00106 |
89719 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
919G>A |
Ala307Thr |
M0016870 |
JMLEJLIO_00106 |
89776 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
976G>A |
Gly326Ser |
M0016871 |
JMLEJLIO_00095 |
79005 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
301A>T |
Ile101Leu |
M0016872 |
JMLEJLIO_00095 |
79094 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
390C>T |
Leu130Leu |
M0016873 |
JMLEJLIO_00095 |
79174 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
470C>T |
Thr157Ile |
M0016874 |
JMLEJLIO_00095 |
79410 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
706G>A |
Ala236Thr |
M0016875 |
JMLEJLIO_00095 |
79465 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
761T>G |
Met254Arg |
M0016876 |
JMLEJLIO_00095 |
79541 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
837T>A |
Asn279Lys |
M0016877 |
JMLEJLIO_00095 |
79586 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
882G>A |
Leu294Leu |
M0016878 |
JMLEJLIO_00095 |
79658 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
954T>C |
Asp318Asp |
M0016879 |
JMLEJLIO_00095 |
79694 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
990C>T |
Asn330Asn |
M0016880 |
JMLEJLIO_00095 |
79807 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1103A>G |
Asn368Ser |
M0016881 |
JMLEJLIO_00095 |
79847 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1143A>C |
Glu381Asp |
M0016882 |
JMLEJLIO_00095 |
79957 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1253G>A |
Arg418Gln |
M0016883 |
JMLEJLIO_00095 |
80031 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1327A>G |
Ser443Gly |
M0016884 |
JMLEJLIO_00095 |
80043 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1339C>T |
His447Tyr |
M0016885 |
JMLEJLIO_00095 |
80046 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1342G>A |
Val448Met |
M0016886 |
JMLEJLIO_00095 |
80089 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1385T>C |
Val462Ala |
M0016887 |
JMLEJLIO_00095 |
80264 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1560T>C |
Gly520Gly |
M0016888 |
JMLEJLIO_00095 |
80276 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1572C>A |
Asp524Glu |
M0016889 |
JMLEJLIO_00095 |
80438 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1734T>C |
Tyr578Tyr |
M0016890 |
JMLEJLIO_00095 |
80442 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1738G>A |
Val580Met |
M0016891 |
JMLEJLIO_00095 |
80452 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1748A>G |
Lys583Arg |
M0016892 |
JMLEJLIO_00095 |
80502 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1798G>A |
Val600Ile |
M0016893 |
JMLEJLIO_00095 |
80508 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1804G>A |
Val602Ile |
M0016894 |
JMLEJLIO_00095 |
80532 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1828G>A |
Ala610Thr |
M0016895 |
JMLEJLIO_00095 |
80561 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1857G>T |
Arg619Arg |
M0016896 |
JMLEJLIO_00095 |
80627 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1923G>T |
Met641Ile |
M0016897 |
JMLEJLIO_00090 |
80753 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4979T>G |
None |
M0016898 |
JMLEJLIO_00096 |
80821 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3T>C |
None |
M0016899 |
JMLEJLIO_00096 |
80875 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
52A>C |
Asn18His |
M0016900 |
JMLEJLIO_00096 |
80880 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
57T>A |
Phe19Leu |
M0016901 |
JMLEJLIO_00096 |
80881 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
58A>G |
Met20Val |
M0016902 |
JMLEJLIO_00096 |
80893 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
70T>C |
Phe24Leu |
M0016903 |
JMLEJLIO_00096 |
80926 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
103T>C |
Ser35Pro |
M0016904 |
JMLEJLIO_00096 |
80949 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
126A>G |
Leu42Leu |
M0016905 |
JMLEJLIO_00096 |
81095 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
272A>G |
Asn91Ser |
M0016906 |
JMLEJLIO_00096 |
81130 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
307G>A |
Gly103Ser |
M0016907 |
JMLEJLIO_00097 |
81300 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-410T>C |
None |
M0016908 |
JMLEJLIO_00097 |
81395 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-315A>C |
None |
M0016909 |
JMLEJLIO_00097 |
81469 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-241C>A |
None |
M0016910 |
JMLEJLIO_00097 |
81472 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-238C>T |
None |
M0016911 |
JMLEJLIO_00097 |
81478 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-232A>C |
None |
M0016912 |
JMLEJLIO_00097 |
81514 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-196A>C |
None |
M0016913 |
JMLEJLIO_00097 |
81527 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-183G>A |
None |
M0016914 |
JMLEJLIO_00097 |
81528 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-182T>C |
None |
M0016915 |
JMLEJLIO_00097 |
81542 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-168A>G |
None |
M0016916 |
JMLEJLIO_00097 |
81543 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-167C>T |
None |
M0016917 |
JMLEJLIO_00097 |
81589 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-121C>T |
None |
M0016918 |
JMLEJLIO_00097 |
81599 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-111T>C |
None |
M0016919 |
JMLEJLIO_00097 |
81618 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-92T>C |
None |
M0016920 |
JMLEJLIO_00097 |
81636 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-74T>A |
None |
M0016921 |
JMLEJLIO_00097 |
81671 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-39T>C |
None |
M0016922 |
JMLEJLIO_00097 |
81699 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-11C>T |
None |
M0016923 |
JMLEJLIO_00097 |
81733 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
24C>A |
Phe8Leu |
M0016924 |
JMLEJLIO_00097 |
81749 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
40T>G |
Cys14Gly |
M0016925 |
JMLEJLIO_00097 |
81892 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
183C>T |
Ile61Ile |
M0016926 |
JMLEJLIO_00097 |
81948 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
239T>C |
Val80Ala |
M0016927 |
JMLEJLIO_00097 |
82061 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
352A>G |
Lys118Glu |
M0016928 |
JMLEJLIO_00097 |
82065 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
356T>G |
Leu119Arg |
M0016929 |
JMLEJLIO_00097 |
82093 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
384T>C |
Thr128Thr |
M0016930 |
JMLEJLIO_00097 |
82295 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
586A>G |
Thr196Ala |
M0016931 |
JMLEJLIO_00097 |
82365 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
656A>G |
His219Arg |
M0016932 |
JMLEJLIO_00097 |
82432 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
723C>T |
Asp241Asp |
M0016933 |
JMLEJLIO_00097 |
82544 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
835G>T |
Ala279Ser |
M0016934 |
JMLEJLIO_00097 |
82557 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
848C>T |
Ala283Val |
M0016935 |
JMLEJLIO_00097 |
82564 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
855C>T |
Tyr285Tyr |
M0016936 |
JMLEJLIO_00097 |
82576 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
867T>C |
Phe289Phe |
M0016937 |
JMLEJLIO_00097 |
82612 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
903C>T |
Gly301Gly |
M0016938 |
JMLEJLIO_00097 |
82687 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
978A>G |
Val326Val |
M0016939 |
JMLEJLIO_00097 |
82690 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
981A>G |
Leu327Leu |
M0016940 |
JMLEJLIO_00097 |
82700 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
991A>G |
Thr331Ala |
M0016941 |
JMLEJLIO_00097 |
82711 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1002G>A |
Leu334Leu |
M0016942 |
JMLEJLIO_00097 |
82732 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1023C>T |
Gly341Gly |
M0016943 |
JMLEJLIO_00097 |
82824 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1115T>C |
Leu372Ser |
M0016944 |
JMLEJLIO_00097 |
82855 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1146C>T |
Ile382Ile |
M0016945 |
JMLEJLIO_00097 |
82858 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1149T>C |
Ala383Ala |
M0016946 |
JMLEJLIO_00097 |
82875 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1166T>C |
Val389Ala |
M0016947 |
JMLEJLIO_00097 |
83058 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1349C>T |
Ala450Val |
M0016948 |
JMLEJLIO_00097 |
83108 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1399A>G |
Met467Val |
M0016949 |
JMLEJLIO_00097 |
83224 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1515C>A |
Arg505Arg |
M0016950 |
JMLEJLIO_00093 |
77690 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
741C>T |
Tyr247Tyr |
M0016951 |
JMLEJLIO_00093 |
77694 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
745G>A |
Gly249Arg |
M0016952 |
JMLEJLIO_00093 |
77744 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
795T>C |
Ile265Ile |
M0016953 |
JMLEJLIO_00095 |
78803 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
99C>A |
Gly33Gly |
M0016954 |
JMLEJLIO_00095 |
78806 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
102A>G |
Lys34Lys |
M0016955 |
JMLEJLIO_00095 |
78810 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
106T>A |
Tyr36Asn |
M0016956 |
JMLEJLIO_00095 |
78851 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
147G>A |
Gln49Gln |
M0016957 |
JMLEJLIO_00094 |
78429 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
476T>C |
Val159Ala |
M0016958 |
JMLEJLIO_00094 |
78492 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
539A>G |
Lys180Arg |
M0016959 |
JMLEJLIO_00094 |
78493 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
540A>C |
Lys180Asn |
M0016960 |
JMLEJLIO_00094 |
78547 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
594A>G |
Val198Val |
M0016961 |
JMLEJLIO_00094 |
78554 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
601T>A |
Ser201Thr |
M0016962 |
JMLEJLIO_00094 |
78592 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
639C>T |
Phe213Phe |
M0016963 |
JMLEJLIO_00094 |
78598 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
645A>G |
Lys215Lys |
M0016964 |
JMLEJLIO_00094 |
78610 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
657A>T |
Leu219Phe |
M0016965 |
JMLEJLIO_00094 |
78626 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
673C>T |
Arg225Cys |
M0016966 |
JMLEJLIO_00095 |
78955 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
251A>G |
Lys84Arg |
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 |
JMLEJLIO_00047 |
VFG001314 |
Aureolysin |
74.5 |
4.4e-206 |
1 |
466 |
1.0 |
0.9155 |
Exoenzyme |
zinc metalloproteinase aureolysin |
experiment |
JMLEJLIO_00077 |
VFG001300 |
Capsule |
71.1 |
6.2e-245 |
1 |
602 |
0.9983 |
0.9918 |
Immune modulation |
type 8 capsular polysaccharide synthesis protein Cap8D |
experiment |
JMLEJLIO_00047 |
VFG001314 |
Aureolysin |
74.5 |
3.3e-205 |
1 |
466 |
1.0 |
0.9155 |
Exoenzyme |
zinc metalloproteinase aureolysin |
prediction |
JMLEJLIO_00075 |
VFG004457 |
Capsule |
75.4 |
2e-94 |
3 |
230 |
0.9913 |
0.9785 |
Immune modulation |
polysaccharide biosynthesis tyrosine autokinase |
prediction |
JMLEJLIO_00077 |
VFG002966 |
Capsule |
81 |
1.1e-277 |
1 |
600 |
0.995 |
1.0017 |
Immune modulation |
polysaccharide biosynthesis protein |
prediction |
JMLEJLIO_00088 |
VFG005097 |
Capsule |
76.3 |
4.9e-167 |
1 |
374 |
0.9842 |
0.992 |
Immune modulation |
DegT/DnrJ/EryC1/StrS family aminotransferase |
prediction |
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 |
JMLEJLIO_00047 |
PHI:11228 |
aur |
75.3 |
8e-207 |
1 |
466 |
1.0000 |
0.9155 |
rodents |
skin infection; food poisoning; respiratory disease |
zinc metalloproteinase aureolysin |
increased virulence (hypervirulence) |
JMLEJLIO_00049 |
PHI:10470 |
arcA |
83.7 |
2.7e-206 |
1 |
411 |
1.0000 |
1.0000 |
rodents |
skin infection |
arginine deiminase |
unaffected pathogenicity |
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 |
JMLEJLIO_00080 |
QQB98955.1|GT4 |
100 |
4.78e-289 |
1 |
394 |
1 |
1 |
JMLEJLIO_00081 |
QRJ66833.1|GT2 |
100 |
6.09e-220 |
1 |
292 |
1 |
1 |
JMLEJLIO_00085 |
QRJ67468.1|GT4 |
99.7 |
7.53e-259 |
4 |
378 |
0.9921 |
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 |