Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C1817 |
Reference Plasmid |
1111525849649755_bin.45__k141_56363 |
Reference Plasmid Size |
33971 |
Reference Plasmid GC Content |
0.57 |
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 |
M0017489 |
JIJAFICA_00003 |
7055 |
171 |
Skin |
0.36 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2677G>C |
None |
M0017490 |
JIJAFICA_00007 |
8804 |
286 |
Skin |
0.61 |
protein_coding |
synonymous_variant |
LOW |
546A>G |
Leu182Leu |
M0017491 |
JIJAFICA_00007 |
8974 |
85 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
376A>G |
Lys126Glu |
M0017492 |
JIJAFICA_00007 |
8981 |
43 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
369C>T |
Ser123Ser |
M0017493 |
JIJAFICA_00009 |
10170 |
78 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
281G>A |
Gly94Asp |
M0017494 |
JIJAFICA_00009 |
10202 |
80 |
Skin |
0.17 |
protein_coding |
missense_variant |
MODERATE |
313C>T |
Pro105Ser |
M0017495 |
JIJAFICA_00006 |
6694 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
357T>C |
Ile119Ile |
M0017496 |
JIJAFICA_00006 |
6702 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
349G>A |
Val117Ile |
M0017497 |
JIJAFICA_00006 |
6874 |
20 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
177A>G |
Leu59Leu |
M0017498 |
JIJAFICA_00006 |
6891 |
21 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
160T>C |
Leu54Leu |
M0017499 |
JIJAFICA_00006 |
6916 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
135C>T |
Phe45Phe |
M0017500 |
JIJAFICA_00006 |
6937 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
114T>C |
Cys38Cys |
M0017501 |
JIJAFICA_00003 |
7215 |
47 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2837T>C |
None |
M0017502 |
JIJAFICA_00007 |
7277 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2073A>G |
Lys691Lys |
M0017503 |
JIJAFICA_00007 |
7364 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1986C>T |
Asp662Asp |
M0017504 |
JIJAFICA_00007 |
7384 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1966C>T |
Leu656Leu |
M0017505 |
JIJAFICA_00007 |
7417 |
52 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1933A>C |
Arg645Arg |
M0017506 |
JIJAFICA_00007 |
7419 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1931G>A |
Arg644Lys |
M0017507 |
JIJAFICA_00007 |
7457 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1893T>C |
Asn631Asn |
M0017508 |
JIJAFICA_00007 |
7498 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1852G>T |
Val618Phe |
M0017509 |
JIJAFICA_00007 |
7511 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1839T>C |
Asp613Asp |
M0017510 |
JIJAFICA_00007 |
7523 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1827C>T |
Arg609Arg |
M0017511 |
JIJAFICA_00007 |
7547 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1803C>T |
Gly601Gly |
M0017512 |
JIJAFICA_00007 |
7550 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1800C>T |
Ile600Ile |
M0017513 |
JIJAFICA_00007 |
7571 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1779A>G |
Pro593Pro |
M0017514 |
JIJAFICA_00007 |
7583 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1767C>T |
His589His |
M0017515 |
JIJAFICA_00007 |
7598 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1752G>C |
Ala584Ala |
M0017516 |
JIJAFICA_00007 |
7628 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1722G>A |
Glu574Glu |
M0017517 |
JIJAFICA_00007 |
7667 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1683C>G |
Ala561Ala |
M0017518 |
JIJAFICA_00007 |
7703 |
23 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
1647T>C |
Ala549Ala |
M0017519 |
JIJAFICA_00007 |
7712 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1638C>T |
Val546Val |
M0017520 |
JIJAFICA_00007 |
7751 |
21 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
1599A>G |
Glu533Glu |
M0017521 |
JIJAFICA_00007 |
7796 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1554C>T |
Asp518Asp |
M0017522 |
JIJAFICA_00007 |
7799 |
58 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
1551T>C |
Leu517Leu |
M0017523 |
JIJAFICA_00007 |
7934 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1416C>T |
Tyr472Tyr |
M0017524 |
JIJAFICA_00007 |
7988 |
33 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1362C>T |
Asp454Asp |
M0017525 |
JIJAFICA_00007 |
8043 |
31 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1307G>A |
Arg436His |
M0017526 |
JIJAFICA_00007 |
8102 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1248C>T |
Val416Val |
M0017527 |
JIJAFICA_00007 |
8132 |
32 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1218G>T |
Ser406Ser |
M0017528 |
JIJAFICA_00007 |
8156 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1194C>A |
Val398Val |
M0017529 |
JIJAFICA_00007 |
8192 |
29 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
1158A>G |
Lys386Lys |
M0017530 |
JIJAFICA_00007 |
8270 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1080G>A |
Glu360Glu |
M0017531 |
JIJAFICA_00007 |
8279 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1071G>C |
Gly357Gly |
M0017532 |
JIJAFICA_00007 |
8291 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1059G>A |
Pro353Pro |
M0017533 |
JIJAFICA_00007 |
8309 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1041A>G |
Glu347Glu |
M0017534 |
JIJAFICA_00007 |
8330 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1020T>C |
Asp340Asp |
M0017535 |
JIJAFICA_00007 |
8336 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1014G>A |
Pro338Pro |
M0017536 |
JIJAFICA_00007 |
8366 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
984A>G |
Ser328Ser |
M0017537 |
JIJAFICA_00007 |
8369 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
981C>G |
Gly327Gly |
M0017538 |
JIJAFICA_00007 |
8408 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
942C>T |
Ile314Ile |
M0017539 |
JIJAFICA_00007 |
8417 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
933T>C |
Cys311Cys |
M0017540 |
JIJAFICA_00007 |
8543 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
807G>A |
Ala269Ala |
M0017541 |
JIJAFICA_00007 |
8548 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
802A>G |
Ile268Val |
M0017542 |
JIJAFICA_00007 |
8626 |
38 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
724A>G |
Ile242Val |
M0017543 |
JIJAFICA_00007 |
8639 |
38 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
711A>G |
Pro237Pro |
M0017544 |
JIJAFICA_00007 |
8717 |
41 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
633T>C |
Ile211Ile |
M0017545 |
JIJAFICA_00007 |
8777 |
16 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
573C>T |
Val191Val |
M0017546 |
JIJAFICA_00007 |
8779 |
16 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
571G>A |
Val191Ile |
M0017547 |
JIJAFICA_00007 |
8858 |
16 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
492A>G |
Val164Val |
M0017548 |
JIJAFICA_00007 |
8930 |
21 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
420C>T |
Leu140Leu |
M0017549 |
JIJAFICA_00007 |
8963 |
19 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
387A>G |
Glu129Glu |
M0017550 |
JIJAFICA_00007 |
9050 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
300T>C |
Ser100Ser |
M0017551 |
JIJAFICA_00007 |
9068 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
282C>T |
Ala94Ala |
M0017552 |
JIJAFICA_00007 |
9159 |
18 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
191G>A |
Arg64Lys |
M0017553 |
JIJAFICA_00007 |
9212 |
16 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
138G>A |
Leu46Leu |
M0017554 |
JIJAFICA_00007 |
9239 |
17 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
111T>C |
Val37Val |
M0017555 |
JIJAFICA_00007 |
9269 |
80 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
81G>A |
Pro27Pro |
M0017556 |
JIJAFICA_00003 |
9359 |
13 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4981G>T |
None |
M0017557 |
JIJAFICA_00013 |
13306 |
16 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
112G>A |
Val38Ile |
M0017558 |
JIJAFICA_00013 |
13346 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
72C>G |
Phe24Leu |
M0017559 |
JIJAFICA_00013 |
13352 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
66T>C |
Ala22Ala |
M0017560 |
JIJAFICA_00013 |
13367 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
51A>C |
Leu17Leu |
M0017561 |
JIJAFICA_00013 |
13379 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
39T>C |
Ala13Ala |
M0017562 |
JIJAFICA_00013 |
13392 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
26C>T |
Ala9Val |
M0017563 |
JIJAFICA_00013 |
13393 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
25G>A |
Ala9Thr |
M0017564 |
JIJAFICA_00013 |
13398 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
20T>C |
Val7Ala |
M0017565 |
JIJAFICA_00007 |
13465 |
14 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4116G>A |
None |
M0017566 |
JIJAFICA_00007 |
13510 |
14 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4161T>A |
None |
M0017567 |
JIJAFICA_00007 |
13533 |
14 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4184G>A |
None |
M0017568 |
JIJAFICA_00007 |
13550 |
14 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4201T>C |
None |
M0017569 |
JIJAFICA_00007 |
13589 |
13 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4240G>A |
None |
M0017570 |
JIJAFICA_00007 |
13649 |
13 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4300C>T |
None |
M0017571 |
JIJAFICA_00014 |
13685 |
17 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
21A>G |
Leu7Leu |
M0017572 |
JIJAFICA_00014 |
13694 |
34 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
30A>G |
Ile10Met |
M0017573 |
JIJAFICA_00014 |
13736 |
16 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
72A>G |
Val24Val |
M0017574 |
JIJAFICA_00014 |
13739 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
75C>T |
Ser25Ser |
M0017575 |
JIJAFICA_00014 |
13876 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
212C>G |
Ser71Cys |
M0017576 |
JIJAFICA_00014 |
13892 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
228A>G |
Ala76Ala |
M0017577 |
JIJAFICA_00014 |
13910 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
246T>C |
Val82Val |
M0017578 |
JIJAFICA_00014 |
13911 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
247A>G |
Asn83Asp |
M0017579 |
JIJAFICA_00014 |
13970 |
31 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
306A>G |
Ile102Met |
M0017580 |
JIJAFICA_00014 |
14138 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
474A>G |
Val158Val |
M0017581 |
JIJAFICA_00014 |
14153 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
489A>G |
Leu163Leu |
M0017582 |
JIJAFICA_00014 |
14164 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
500T>C |
Ile167Thr |
M0017583 |
JIJAFICA_00014 |
14240 |
7 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
576G>C |
Leu192Leu |
M0017584 |
JIJAFICA_00014 |
14255 |
7 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
591C>T |
Phe197Phe |
M0017585 |
JIJAFICA_00014 |
14270 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
606C>T |
Gly202Gly |
M0017586 |
JIJAFICA_00014 |
14312 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
648G>A |
Val216Val |
M0017587 |
JIJAFICA_00007 |
7586 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1764A>C |
Glu588Asp |
M0017588 |
JIJAFICA_00007 |
7844 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1506C>T |
Gly502Gly |
M0017589 |
JIJAFICA_00007 |
8510 |
21 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
840C>T |
Ala280Ala |
M0017590 |
JIJAFICA_00007 |
8630 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
720G>A |
Gly240Gly |
M0017591 |
JIJAFICA_00007 |
8633 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
717C>G |
Thr239Thr |
M0017592 |
JIJAFICA_00007 |
8636 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
714C>T |
Leu238Leu |
M0017593 |
JIJAFICA_00007 |
8642 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
708C>T |
His236His |
M0017594 |
JIJAFICA_00007 |
8692 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
658C>T |
Leu220Leu |
M0017595 |
JIJAFICA_00007 |
8729 |
26 |
Skin |
0.06 |
protein_coding |
synonymous_variant |
LOW |
621C>T |
Asp207Asp |
M0017596 |
JIJAFICA_00007 |
9149 |
21 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
201C>T |
Arg67Arg |
M0017597 |
JIJAFICA_00007 |
9169 |
21 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
181C>T |
Leu61Leu |
M0017598 |
JIJAFICA_00007 |
9173 |
21 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
177G>A |
Ala59Ala |
M0017599 |
JIJAFICA_00009 |
10172 |
17 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
283G>C |
Gly95Arg |
M0017600 |
JIJAFICA_00009 |
10186 |
17 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
297C>G |
Pro99Pro |
M0017601 |
JIJAFICA_00009 |
10224 |
15 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
335A>G |
Asp112Gly |
M0017602 |
JIJAFICA_00009 |
10256 |
16 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
367G>A |
Val123Ile |
M0017603 |
JIJAFICA_00010 |
10905 |
57 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
324T>C |
Arg108Arg |
M0017604 |
JIJAFICA_00010 |
10921 |
16 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
340G>A |
Ala114Thr |
M0017605 |
JIJAFICA_00010 |
10929 |
16 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
348T>C |
Arg116Arg |
M0017606 |
JIJAFICA_00010 |
11094 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
513C>T |
Asp171Asp |
M0017607 |
JIJAFICA_00010 |
11139 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
558A>C |
Pro186Pro |
M0017608 |
JIJAFICA_00010 |
11144 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
563T>C |
Val188Ala |
M0017609 |
JIJAFICA_00010 |
11154 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
573C>T |
Val191Val |
M0017610 |
JIJAFICA_00010 |
11171 |
56 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
590T>C |
Val197Ala |
M0017611 |
JIJAFICA_00007 |
13072 |
33 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3723A>G |
None |
M0017612 |
JIJAFICA_00007 |
13099 |
31 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3750G>T |
None |
M0017613 |
JIJAFICA_00007 |
13104 |
7 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3755T>C |
None |
M0017614 |
JIJAFICA_00007 |
13133 |
34 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3784C>T |
None |
M0017615 |
JIJAFICA_00009 |
10309 |
55 |
Skin |
0.12 |
protein_coding |
synonymous_variant |
LOW |
420C>T |
His140His |
M0017616 |
JIJAFICA_00009 |
10387 |
52 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
498G>A |
Gln166Gln |
M0017617 |
JIJAFICA_00007 |
13507 |
28 |
Skin |
0.06 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4158A>T |
None |
M0017618 |
JIJAFICA_00001 |
729 |
7 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
418G>T |
Ala140Ser |
M0017619 |
JIJAFICA_00004 |
1491 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3116T>C |
None |
M0017620 |
JIJAFICA_00003 |
1712 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2667T>C |
Gly889Gly |
M0017621 |
JIJAFICA_00003 |
1955 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2424A>G |
Leu808Leu |
M0017622 |
JIJAFICA_00003 |
2120 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
2259T>C |
Thr753Thr |
M0017623 |
JIJAFICA_00003 |
3395 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
984C>T |
Val328Val |
M0017624 |
JIJAFICA_00003 |
3413 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
966A>C |
Val322Val |
M0017625 |
JIJAFICA_00003 |
3441 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
938C>T |
Ala313Val |
M0017626 |
JIJAFICA_00003 |
3538 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
841T>C |
Leu281Leu |
M0017627 |
JIJAFICA_00003 |
3974 |
18 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
405T>C |
Gly135Gly |
M0017628 |
JIJAFICA_00003 |
4007 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
372A>G |
Gln124Gln |
M0017629 |
JIJAFICA_00003 |
4539 |
24 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-161T>C |
None |
M0017630 |
JIJAFICA_00003 |
4551 |
6 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-173C>T |
None |
M0017631 |
JIJAFICA_00004 |
4652 |
22 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
46T>C |
Leu16Leu |
M0017632 |
JIJAFICA_00005 |
5438 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
43A>G |
Ile15Val |
M0017633 |
JIJAFICA_00005 |
5692 |
7 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
297C>T |
Asp99Asp |
M0017634 |
JIJAFICA_00005 |
5845 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
450T>C |
Asp150Asp |
M0017635 |
JIJAFICA_00006 |
6065 |
7 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
986T>C |
Val329Ala |
M0017636 |
JIJAFICA_00006 |
6262 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
789A>G |
Gly263Gly |
M0017637 |
JIJAFICA_00006 |
6282 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
769T>C |
Leu257Leu |
M0017638 |
JIJAFICA_00006 |
6325 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
726T>G |
Gly242Gly |
M0017639 |
JIJAFICA_00006 |
6354 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
697C>T |
Leu233Phe |
M0017640 |
JIJAFICA_00006 |
6361 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
690T>C |
Tyr230Tyr |
M0017641 |
JIJAFICA_00006 |
6417 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
634T>C |
Leu212Leu |
M0017642 |
JIJAFICA_00006 |
6466 |
36 |
Skin |
0.08 |
protein_coding |
synonymous_variant |
LOW |
585T>C |
Thr195Thr |
M0017643 |
JIJAFICA_00006 |
6714 |
17 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
337G>A |
Val113Ile |
M0017644 |
JIJAFICA_00006 |
6871 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
180G>A |
Gln60Gln |
M0017645 |
JIJAFICA_00006 |
6908 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
143T>G |
Leu48Trp |
M0017646 |
JIJAFICA_00006 |
6928 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
123C>T |
Phe41Phe |
M0017647 |
JIJAFICA_00007 |
7514 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1836C>T |
Ala612Ala |
M0017648 |
JIJAFICA_00007 |
7520 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1830A>G |
Glu610Glu |
M0017649 |
JIJAFICA_00007 |
7766 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1584C>T |
Leu528Leu |
M0017650 |
JIJAFICA_00007 |
8129 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1221C>T |
Tyr407Tyr |
M0017651 |
JIJAFICA_00007 |
8171 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1179G>C |
Arg393Arg |
M0017652 |
JIJAFICA_00007 |
8219 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1131C>T |
Pro377Pro |
M0017653 |
JIJAFICA_00007 |
8240 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1110A>G |
Val370Val |
M0017654 |
JIJAFICA_00006 |
9385 |
18 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2335A>G |
None |
M0017655 |
JIJAFICA_00006 |
9390 |
18 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2340T>C |
None |
M0017656 |
JIJAFICA_00008 |
9544 |
18 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
21C>T |
His7His |
M0017657 |
JIJAFICA_00008 |
9569 |
17 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
46C>T |
Leu16Leu |
M0017658 |
JIJAFICA_00008 |
9574 |
17 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
51A>G |
Leu17Leu |
M0017659 |
JIJAFICA_00008 |
9665 |
69 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
142T>C |
Phe48Leu |
M0017660 |
JIJAFICA_00008 |
9670 |
18 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
147C>T |
His49His |
M0017661 |
JIJAFICA_00008 |
9672 |
18 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
149G>A |
Gly50Asp |
M0017662 |
JIJAFICA_00008 |
9770 |
72 |
Skin |
0.15 |
protein_coding |
missense_variant |
MODERATE |
247C>T |
Arg83Trp |
M0017663 |
JIJAFICA_00009 |
9901 |
20 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
12G>A |
Arg4Arg |
M0017664 |
JIJAFICA_00009 |
10038 |
18 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
149A>C |
Asp50Ala |
M0017665 |
JIJAFICA_00009 |
10041 |
18 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
152G>A |
Arg51Gln |
M0017666 |
JIJAFICA_00008 |
9738 |
17 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
215G>A |
Gly72Asp |
M0017667 |
JIJAFICA_00008 |
9778 |
49 |
Skin |
0.10 |
protein_coding |
synonymous_variant |
LOW |
255G>A |
Gly85Gly |
M0017668 |
JIJAFICA_00006 |
9812 |
49 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2762G>A |
None |
M0017669 |
JIJAFICA_00010 |
11020 |
56 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
439C>G |
Arg147Gly |
M0017670 |
JIJAFICA_00023 |
27937 |
19 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
403A>G |
Thr135Ala |
M0017671 |
JIJAFICA_00023 |
27956 |
18 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
384G>T |
Glu128Asp |
M0017672 |
JIJAFICA_00023 |
28312 |
18 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
28A>G |
Met10Val |
M0017673 |
JIJAFICA_00024 |
29285 |
18 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
782C>T |
Thr261Met |
M0017674 |
JIJAFICA_00025 |
30264 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
585G>A |
Ala195Ala |
M0017675 |
JIJAFICA_00026 |
30850 |
28 |
Skin |
0.06 |
protein_coding |
stop_gained |
HIGH |
1057G>T |
Gly353* |
M0017676 |
JIJAFICA_00027 |
32933 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
74C>T |
Thr25Ile |
M0017677 |
JIJAFICA_00028 |
33245 |
79 |
Skin |
0.17 |
protein_coding |
synonymous_variant |
LOW |
612C>T |
Val204Val |
M0017678 |
JIJAFICA_00007 |
8115 |
38 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
1235C>T |
Ala412Val |
M0017679 |
JIJAFICA_00007 |
7469 |
26 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1881C>A |
His627Gln |
M0017680 |
JIJAFICA_00007 |
7987 |
30 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
1363C>G |
Arg455Gly |
M0017681 |
JIJAFICA_00007 |
8186 |
33 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1164C>T |
Asp388Asp |
M0017682 |
JIJAFICA_00009 |
9905 |
46 |
Skin |
0.10 |
protein_coding |
missense_variant |
MODERATE |
16T>G |
Ser6Ala |
M0017683 |
JIJAFICA_00006 |
10453 |
37 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3403C>T |
None |
M0017684 |
JIJAFICA_00006 |
10525 |
39 |
Skin |
0.08 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3475T>C |
None |
M0017685 |
JIJAFICA_00010 |
10720 |
40 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
139T>C |
Ser47Pro |
M0017686 |
JIJAFICA_00010 |
10863 |
40 |
Skin |
0.09 |
protein_coding |
stop_gained |
HIGH |
282G>A |
Trp94* |
M0017687 |
JIJAFICA_00010 |
11230 |
53 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
649C>T |
Pro217Ser |
M0017688 |
JIJAFICA_00006 |
11395 |
47 |
Skin |
0.10 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4345C>G |
None |
M0017689 |
JIJAFICA_00006 |
11558 |
32 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4508T>C |
None |
M0017690 |
JIJAFICA_00006 |
11699 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4649C>T |
None |
M0017691 |
JIJAFICA_00006 |
11724 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4674C>T |
None |
M0017692 |
JIJAFICA_00011 |
12065 |
35 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
132A>G |
Ile44Met |
M0017693 |
JIJAFICA_00011 |
12103 |
36 |
Skin |
0.08 |
protein_coding |
missense_variant |
MODERATE |
170T>C |
Ile57Thr |
M0017694 |
JIJAFICA_00011 |
12177 |
33 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
244A>G |
Thr82Ala |
M0017695 |
JIJAFICA_00007 |
12450 |
32 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3101T>C |
None |
M0017696 |
JIJAFICA_00007 |
12507 |
25 |
Skin |
0.05 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3158G>A |
None |
M0017697 |
JIJAFICA_00012 |
12760 |
23 |
Skin |
0.05 |
protein_coding |
synonymous_variant |
LOW |
183T>C |
Arg61Arg |
M0017698 |
JIJAFICA_00012 |
12827 |
28 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
116G>T |
Arg39Leu |
M0017699 |
JIJAFICA_00012 |
12897 |
28 |
Skin |
0.06 |
protein_coding |
missense_variant |
MODERATE |
46A>G |
Ser16Gly |
M0017700 |
JIJAFICA_00007 |
13432 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4083T>C |
None |
M0017701 |
JIJAFICA_00014 |
14093 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
429A>G |
Lys143Lys |
M0017702 |
JIJAFICA_00014 |
14232 |
13 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
568A>G |
Ile190Val |
M0017703 |
JIJAFICA_00015 |
14391 |
20 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
47C>G |
Thr16Arg |
M0017704 |
JIJAFICA_00015 |
14794 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
450C>T |
Ala150Ala |
M0017705 |
JIJAFICA_00017 |
16315 |
20 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
120G>A |
Arg40Arg |
M0017706 |
JIJAFICA_00017 |
16536 |
16 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
341A>G |
Asp114Gly |
M0017707 |
JIJAFICA_00017 |
16685 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
490G>A |
Gly164Ser |
M0017708 |
JIJAFICA_00017 |
16708 |
18 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
513T>C |
Arg171Arg |
M0017709 |
JIJAFICA_00017 |
16937 |
17 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
742T>C |
Ser248Pro |
M0017710 |
JIJAFICA_00017 |
17119 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
924C>T |
Ser308Ser |
M0017711 |
JIJAFICA_00017 |
17185 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
990C>T |
Phe330Phe |
M0017712 |
JIJAFICA_00017 |
17423 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1228A>G |
Thr410Ala |
M0017713 |
JIJAFICA_00017 |
17945 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1750A>G |
Thr584Ala |
M0017714 |
JIJAFICA_00017 |
18008 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1813A>G |
Ile605Val |
M0017715 |
JIJAFICA_00014 |
13848 |
54 |
Skin |
0.12 |
protein_coding |
missense_variant |
MODERATE |
184G>A |
Gly62Ser |
M0017716 |
JIJAFICA_00014 |
14252 |
16 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
588T>C |
Tyr196Tyr |
M0017717 |
JIJAFICA_00012 |
12732 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
211C>T |
Leu71Phe |
M0017718 |
JIJAFICA_00012 |
12744 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
199G>A |
Gly67Ser |
M0017719 |
JIJAFICA_00007 |
13155 |
7 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3806G>A |
None |
M0017720 |
JIJAFICA_00010 |
10980 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
399C>T |
Asp133Asp |
M0017721 |
JIJAFICA_00010 |
10986 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
405C>T |
Val135Val |
M0017722 |
JIJAFICA_00010 |
11001 |
16 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
420C>T |
Ser140Ser |
M0017723 |
JIJAFICA_00010 |
11036 |
15 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
455A>C |
Asn152Thr |
M0017724 |
JIJAFICA_00010 |
11067 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
486A>G |
Ala162Ala |
M0017725 |
JIJAFICA_00017 |
17122 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
927G>A |
Leu309Leu |
M0017726 |
JIJAFICA_00017 |
17230 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1035G>A |
Thr345Thr |
M0017727 |
JIJAFICA_00017 |
17807 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1612G>T |
Asp538Tyr |
M0017728 |
JIJAFICA_00017 |
19969 |
18 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
3774T>C |
Asp1258Asp |
M0017729 |
JIJAFICA_00019 |
20918 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
321T>C |
Asp107Asp |
M0017730 |
JIJAFICA_00019 |
21314 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
717G>A |
Gly239Gly |
M0017731 |
JIJAFICA_00019 |
21574 |
20 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
977A>G |
Gln326Arg |
M0017732 |
JIJAFICA_00019 |
21961 |
18 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
1364A>G |
Gln455Arg |
M0017733 |
JIJAFICA_00021 |
23867 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1635G>A |
Gly545Gly |
M0017734 |
JIJAFICA_00021 |
23871 |
15 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
1631G>A |
Ser544Asn |
M0017735 |
JIJAFICA_00021 |
24968 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
534C>T |
Asp178Asp |
M0017736 |
JIJAFICA_00021 |
25628 |
12 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-127T>C |
None |
M0017737 |
JIJAFICA_00023 |
27283 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1057T>G |
Leu353Val |
M0017738 |
JIJAFICA_00003 |
1579 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
2800G>A |
Ala934Thr |
M0017739 |
JIJAFICA_00009 |
10338 |
19 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
449G>T |
Gly150Val |
M0017740 |
JIJAFICA_00001 |
257 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-55C>T |
None |
M0017741 |
JIJAFICA_00003 |
3226 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1153C>T |
Pro385Ser |
M0017742 |
JIJAFICA_00003 |
4078 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
301C>T |
Leu101Phe |
M0017743 |
JIJAFICA_00003 |
4286 |
16 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
93G>A |
Ser31Ser |
M0017744 |
JIJAFICA_00003 |
4298 |
20 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
81A>G |
Arg27Arg |
M0017745 |
JIJAFICA_00003 |
4331 |
18 |
Skin |
0.04 |
protein_coding |
synonymous_variant |
LOW |
48T>C |
Ala16Ala |
M0017746 |
JIJAFICA_00004 |
4811 |
7 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
205G>A |
Ala69Thr |
M0017747 |
JIJAFICA_00003 |
5380 |
19 |
Skin |
0.04 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1002G>A |
None |
M0017748 |
JIJAFICA_00005 |
5466 |
7 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
71T>C |
Ile24Thr |
M0017749 |
JIJAFICA_00005 |
5601 |
20 |
Skin |
0.04 |
protein_coding |
missense_variant |
MODERATE |
206T>C |
Val69Ala |
M0017750 |
JIJAFICA_00009 |
10039 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
150C>T |
Asp50Asp |
M0017751 |
JIJAFICA_00023 |
33051 |
12 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4712T>C |
None |
M0017752 |
JIJAFICA_00024 |
33904 |
16 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3838C>A |
None |
M0017753 |
JIJAFICA_00005 |
5506 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
111C>T |
Leu37Leu |
M0017754 |
JIJAFICA_00003 |
4313 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
66C>G |
Ala22Ala |
M0017755 |
JIJAFICA_00010 |
10923 |
13 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
342A>G |
Ala114Ala |
M0017756 |
JIJAFICA_00012 |
12919 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
24T>G |
Gly8Gly |
M0017757 |
JIJAFICA_00007 |
13098 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3749C>T |
None |
M0017758 |
JIJAFICA_00002 |
1127 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
54G>A |
Leu18Leu |
M0017759 |
JIJAFICA_00003 |
4527 |
16 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-149G>A |
None |
M0017760 |
JIJAFICA_00003 |
9375 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4997C>T |
None |
M0017761 |
JIJAFICA_00015 |
14407 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
63C>T |
Ser21Ser |
M0017762 |
JIJAFICA_00017 |
17537 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1342A>G |
Ile448Val |
M0017763 |
JIJAFICA_00017 |
17542 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1347A>G |
Ala449Ala |
M0017764 |
JIJAFICA_00021 |
25346 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
156T>C |
Ser52Ser |
M0017765 |
JIJAFICA_00024 |
28459 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1608A>T |
Thr536Thr |
M0017766 |
JIJAFICA_00024 |
28488 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1579A>G |
Ser527Gly |
M0017767 |
JIJAFICA_00024 |
29797 |
7 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
270G>A |
Lys90Lys |
M0017768 |
JIJAFICA_00024 |
29802 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
265G>C |
Ala89Pro |
M0017769 |
JIJAFICA_00024 |
29830 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
237C>T |
His79His |
M0017770 |
JIJAFICA_00025 |
30071 |
12 |
Skin |
0.03 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
778T>A |
Ter260Lysext*? |
M0017771 |
JIJAFICA_00025 |
30099 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
750T>C |
Ala250Ala |
M0017772 |
JIJAFICA_00025 |
30140 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
709G>A |
Ala237Thr |
M0017773 |
JIJAFICA_00026 |
30857 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
1050G>A |
Lys350Lys |
M0017774 |
JIJAFICA_00005 |
5570 |
7 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
175G>A |
Ala59Thr |
M0017775 |
JIJAFICA_00005 |
5572 |
7 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
177C>T |
Ala59Ala |
M0017776 |
JIJAFICA_00005 |
5587 |
7 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
192T>C |
Asp64Asp |
M0017777 |
JIJAFICA_00005 |
5593 |
7 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
198C>T |
Val66Val |
M0017778 |
JIJAFICA_00005 |
5638 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
243C>T |
Ala81Ala |
M0017779 |
JIJAFICA_00005 |
5651 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
256G>A |
Val86Ile |
M0017780 |
JIJAFICA_00005 |
5674 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
279G>A |
Pro93Pro |
M0017781 |
JIJAFICA_00007 |
7871 |
11 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1479C>A |
Ile493Ile |
M0017782 |
JIJAFICA_00013 |
13338 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
80G>C |
Cys27Ser |
M0017783 |
JIJAFICA_00015 |
14386 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
42G>A |
Thr14Thr |
M0017784 |
JIJAFICA_00015 |
14410 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
66C>T |
His22His |
M0017785 |
JIJAFICA_00015 |
14436 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
92T>C |
Val31Ala |
M0017786 |
JIJAFICA_00015 |
14686 |
7 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
342C>T |
Ile114Ile |
M0017787 |
JIJAFICA_00015 |
14698 |
7 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
354G>A |
Ser118Ser |
M0017788 |
JIJAFICA_00015 |
14707 |
7 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
363G>A |
Gly121Gly |
M0017789 |
JIJAFICA_00015 |
14732 |
7 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
388A>G |
Ile130Val |
M0017790 |
JIJAFICA_00015 |
14740 |
7 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
396A>C |
Pro132Pro |
M0017791 |
JIJAFICA_00015 |
14746 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
402A>G |
Arg134Arg |
M0017792 |
JIJAFICA_00015 |
14998 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
654T>C |
Tyr218Tyr |
M0017793 |
JIJAFICA_00015 |
15040 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
696A>G |
Arg232Arg |
M0017794 |
JIJAFICA_00015 |
15061 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
717T>C |
Gly239Gly |
M0017795 |
JIJAFICA_00015 |
15223 |
7 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
879C>A |
Arg293Arg |
M0017796 |
JIJAFICA_00015 |
15268 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
924A>G |
Leu308Leu |
M0017797 |
JIJAFICA_00016 |
15968 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
567G>A |
Gln189Gln |
M0017798 |
JIJAFICA_00017 |
16370 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
175G>C |
Val59Leu |
M0017799 |
JIJAFICA_00017 |
16577 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
382T>A |
Ser128Thr |
M0017800 |
JIJAFICA_00017 |
17827 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1632A>G |
Pro544Pro |
M0017801 |
JIJAFICA_00024 |
29872 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
195G>T |
Ala65Ala |
M0017802 |
JIJAFICA_00024 |
29903 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
164A>G |
Tyr55Cys |
M0017803 |
JIJAFICA_00024 |
29912 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
155C>T |
Pro52Leu |
M0017804 |
JIJAFICA_00003 |
4121 |
16 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
258C>T |
Leu86Leu |
M0017805 |
JIJAFICA_00003 |
4169 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
210C>G |
Arg70Arg |
M0017806 |
JIJAFICA_00003 |
4184 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
195G>A |
Thr65Thr |
M0017807 |
JIJAFICA_00003 |
4202 |
14 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
177C>T |
Ser59Ser |
M0017808 |
JIJAFICA_00009 |
10121 |
16 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
232T>C |
Leu78Leu |
M0017809 |
JIJAFICA_00009 |
10135 |
16 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
246G>A |
Glu82Glu |
M0017810 |
JIJAFICA_00006 |
10437 |
15 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3387T>C |
None |
M0017811 |
JIJAFICA_00006 |
10476 |
12 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3426C>T |
None |
M0017812 |
JIJAFICA_00006 |
10518 |
13 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3468A>G |
None |
M0017813 |
JIJAFICA_00006 |
10569 |
14 |
Skin |
0.03 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3519T>C |
None |
M0017814 |
JIJAFICA_00010 |
10651 |
14 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
70G>A |
Val24Ile |
M0017815 |
JIJAFICA_00010 |
11350 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
769A>G |
Met257Val |
M0017816 |
JIJAFICA_00006 |
11425 |
9 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4375T>C |
None |
M0017817 |
JIJAFICA_00006 |
11452 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4402A>G |
None |
M0017818 |
JIJAFICA_00006 |
11458 |
8 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4408C>T |
None |
M0017819 |
JIJAFICA_00023 |
27725 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
615G>C |
Thr205Thr |
M0017820 |
JIJAFICA_00023 |
27730 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
610T>A |
Phe204Ile |
M0017821 |
JIJAFICA_00024 |
29429 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
638A>G |
Gln213Arg |
M0017822 |
JIJAFICA_00024 |
29494 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
573C>T |
Arg191Arg |
M0017823 |
JIJAFICA_00024 |
29510 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
557G>A |
Arg186His |
M0017824 |
JIJAFICA_00025 |
30397 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
452C>A |
Ala151Glu |
M0017825 |
JIJAFICA_00025 |
30450 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
399G>A |
Leu133Leu |
M0017826 |
JIJAFICA_00025 |
30478 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
371A>G |
Asp124Gly |
M0017827 |
JIJAFICA_00025 |
30741 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
108C>T |
Asn36Asn |
M0017828 |
JIJAFICA_00026 |
31118 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
789A>T |
Leu263Leu |
M0017829 |
JIJAFICA_00026 |
31193 |
7 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
714T>C |
Gly238Gly |
M0017830 |
JIJAFICA_00026 |
31718 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
189C>T |
Asp63Asp |
M0017831 |
JIJAFICA_00026 |
31759 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
148G>A |
Ala50Thr |
M0017832 |
JIJAFICA_00026 |
31811 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
96A>G |
Val32Val |
M0017833 |
JIJAFICA_00027 |
32150 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
857C>A |
Thr286Lys |
M0017834 |
JIJAFICA_00027 |
32204 |
7 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
803G>A |
Ser268Asn |
M0017835 |
JIJAFICA_00027 |
32380 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
627T>G |
Asp209Glu |
M0017836 |
JIJAFICA_00027 |
32752 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
255A>G |
Lys85Lys |
M0017837 |
JIJAFICA_00028 |
33175 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
682G>A |
Val228Met |
M0017838 |
JIJAFICA_00028 |
33203 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
654C>T |
Gly218Gly |
M0017839 |
JIJAFICA_00028 |
33413 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
444G>T |
Gly148Gly |
M0017840 |
JIJAFICA_00028 |
33554 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
303G>T |
Gly101Gly |
M0017841 |
JIJAFICA_00028 |
33659 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
198A>G |
Lys66Lys |
M0017842 |
JIJAFICA_00028 |
33668 |
12 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
189T>C |
Pro63Pro |
M0017843 |
JIJAFICA_00028 |
33766 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
91C>A |
Arg31Ser |
M0017844 |
JIJAFICA_00024 |
33894 |
10 |
Skin |
0.02 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3828C>T |
None |
M0017845 |
JIJAFICA_00017 |
18544 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2349G>A |
Gln783Gln |
M0017846 |
JIJAFICA_00017 |
18587 |
12 |
Skin |
0.03 |
protein_coding |
missense_variant |
MODERATE |
2392T>C |
Ser798Pro |
M0017847 |
JIJAFICA_00019 |
21617 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1020A>T |
Ser340Ser |
M0017848 |
JIJAFICA_00019 |
21656 |
7 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1059T>G |
Thr353Thr |
M0017849 |
JIJAFICA_00019 |
21658 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
1061G>C |
Arg354Thr |
M0017850 |
JIJAFICA_00024 |
29049 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1018C>T |
Pro340Ser |
M0017851 |
JIJAFICA_00024 |
29076 |
7 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
991C>T |
Pro331Ser |
M0017852 |
JIJAFICA_00024 |
29084 |
7 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
983C>T |
Thr328Met |
M0017853 |
JIJAFICA_00024 |
29140 |
7 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
927A>G |
Arg309Arg |
M0017854 |
JIJAFICA_00024 |
29146 |
7 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
921A>G |
Ala307Ala |
M0017855 |
JIJAFICA_00024 |
29155 |
7 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
912T>C |
Ser304Ser |
M0017856 |
JIJAFICA_00024 |
29173 |
7 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
894T>C |
Gly298Gly |
M0017857 |
JIJAFICA_00024 |
29604 |
7 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
463T>C |
Phe155Leu |
M0017858 |
JIJAFICA_00024 |
29626 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
441C>T |
Val147Val |
M0017859 |
JIJAFICA_00024 |
29708 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
359T>C |
Val120Ala |
M0017860 |
JIJAFICA_00024 |
29725 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
342C>T |
Thr114Thr |
M0017861 |
JIJAFICA_00025 |
30750 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
99G>A |
Leu33Leu |
M0017862 |
JIJAFICA_00026 |
31715 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
192C>T |
Ala64Ala |
M0017863 |
JIJAFICA_00003 |
4142 |
15 |
Skin |
0.03 |
protein_coding |
synonymous_variant |
LOW |
237T>C |
Ile79Ile |
M0017864 |
JIJAFICA_00015 |
14792 |
7 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
448G>A |
Ala150Thr |
M0017865 |
JIJAFICA_00023 |
33086 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4747C>T |
None |
M0017866 |
JIJAFICA_00023 |
27515 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
825C>T |
Ile275Ile |
M0017867 |
JIJAFICA_00023 |
27517 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
823A>G |
Ile275Val |
M0017868 |
JIJAFICA_00022 |
26431 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
210A>G |
Gln70Gln |
M0017869 |
JIJAFICA_00022 |
26446 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
195C>T |
Val65Val |
M0017870 |
JIJAFICA_00017 |
18721 |
11 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
2526A>G |
Ile842Met |
M0017871 |
JIJAFICA_00022 |
26567 |
10 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
74A>G |
Asp25Gly |
M0017872 |
JIJAFICA_00022 |
26575 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
66C>A |
Ala22Ala |
M0017873 |
JIJAFICA_00022 |
26585 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
56G>A |
Gly19Asp |
M0017874 |
JIJAFICA_00022 |
26608 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
33G>A |
Thr11Thr |
M0017875 |
JIJAFICA_00022 |
26625 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
16G>A |
Val6Ile |
M0017876 |
JIJAFICA_00022 |
26640 |
10 |
Skin |
0.02 |
protein_coding |
start_lost |
HIGH |
1A>G |
Met1? |
M0017877 |
JIJAFICA_00023 |
26672 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1668G>A |
Arg556Arg |
M0017878 |
JIJAFICA_00006 |
10515 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3465C>G |
None |
M0017879 |
JIJAFICA_00013 |
13241 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
177C>T |
Asn59Asn |
M0017880 |
JIJAFICA_00013 |
13273 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
145G>A |
Gly49Ser |
M0017881 |
JIJAFICA_00017 |
18448 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
2253T>C |
Ala751Ala |
M0017882 |
JIJAFICA_00017 |
19474 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
3279A>G |
Lys1093Lys |
M0017883 |
JIJAFICA_00018 |
20292 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
228C>T |
Phe76Phe |
M0017884 |
JIJAFICA_00018 |
20521 |
7 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
457A>G |
Ser153Gly |
M0017885 |
JIJAFICA_00019 |
20767 |
8 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
170T>C |
Val57Ala |
M0017886 |
JIJAFICA_00019 |
21020 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
423C>T |
Arg141Arg |
M0017887 |
JIJAFICA_00019 |
21122 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
525T>C |
Ile175Ile |
M0017888 |
JIJAFICA_00019 |
21151 |
7 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
554T>C |
Val185Ala |
M0017889 |
JIJAFICA_00019 |
21227 |
9 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
630A>G |
Thr210Thr |
M0017890 |
JIJAFICA_00019 |
21274 |
7 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
677G>T |
Gly226Val |
M0017891 |
JIJAFICA_00019 |
21851 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1254T>C |
Gly418Gly |
M0017892 |
JIJAFICA_00019 |
22265 |
10 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
1668C>T |
Val556Val |
M0017893 |
JIJAFICA_00020 |
22461 |
8 |
Skin |
0.02 |
protein_coding |
synonymous_variant |
LOW |
60T>C |
Ser20Ser |
M0017894 |
JIJAFICA_00020 |
22653 |
7 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
252G>A |
Thr84Thr |
M0017895 |
JIJAFICA_00020 |
23300 |
7 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
899A>C |
Asp300Ala |
M0017896 |
JIJAFICA_00017 |
23535 |
6 |
Skin |
0.01 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3506G>T |
None |
M0017897 |
JIJAFICA_00017 |
23644 |
9 |
Skin |
0.02 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3615C>G |
None |
M0017898 |
JIJAFICA_00021 |
24602 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
900A>G |
Pro300Pro |
M0017899 |
JIJAFICA_00021 |
25170 |
7 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
332C>T |
Ala111Val |
M0017900 |
JIJAFICA_00021 |
25275 |
9 |
Skin |
0.02 |
protein_coding |
missense_variant |
MODERATE |
227T>C |
Leu76Ser |
M0017901 |
JIJAFICA_00021 |
25769 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-268C>T |
None |
M0017902 |
JIJAFICA_00021 |
25810 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-309G>A |
None |
M0017903 |
JIJAFICA_00021 |
25847 |
5 |
Skin |
0.01 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-346A>G |
None |
M0017904 |
JIJAFICA_00022 |
26003 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
638C>A |
Ala213Glu |
M0017905 |
JIJAFICA_00023 |
27634 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
706A>G |
Thr236Ala |
M0017906 |
JIJAFICA_00022 |
26040 |
6 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
601G>A |
Val201Ile |
M0017907 |
JIJAFICA_00022 |
26053 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
588A>G |
Ala196Ala |
M0017908 |
JIJAFICA_00022 |
26062 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
579A>G |
Glu193Glu |
M0017909 |
JIJAFICA_00022 |
26098 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
543A>G |
Ala181Ala |
M0017910 |
JIJAFICA_00022 |
26275 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
366T>C |
His122His |
M0017911 |
JIJAFICA_00022 |
26365 |
7 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
276G>A |
Arg92Arg |
M0017912 |
JIJAFICA_00023 |
26774 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1566A>G |
Arg522Arg |
M0017913 |
JIJAFICA_00023 |
26816 |
6 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1524G>A |
Val508Val |
M0017914 |
JIJAFICA_00023 |
28220 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
120T>C |
Gly40Gly |
M0017915 |
JIJAFICA_00024 |
28397 |
5 |
Skin |
0.01 |
protein_coding |
missense_variant |
MODERATE |
1670T>C |
Leu557Ser |
M0017916 |
JIJAFICA_00024 |
28618 |
5 |
Skin |
0.01 |
protein_coding |
synonymous_variant |
LOW |
1449T>C |
Gly483Gly |
Analysis of virulence factors contributing to bacterial pathogenicity
This table presents virulence factors identified within the plasmid cluster.
Note: Virulence factor analysis was performed using VFDB. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known virulence factors are listed.
Gene Name |
vf_gene_id |
vf_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
vf_category |
gene_description |
condition |
Analysis of biocide and heavy metal resistance genes to assess antimicrobial risk and environmental impact
This table presents biocides and heavy metals resistance genes identified within the plasmid cluster.
Note: Analyzing biocide and heavy metal resistance genes based on BacMet to evaluate bacterial resistance risk and the potential impact of environmental heavy metal contamination. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, E-value < 1e-5) to known biocide and heavy metal resistance genes are listed.
Gene Name |
compound |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
group |
Analyzing antimicrobial resistance genes to assess bacterial resistance to antibiotics and other antimicrobial agents
This table presents antimicrobial resistance genes identified within the plasmid cluster.
Note: Antimicrobial resistance was performed using CARD. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known antimicrobial resistance genes are listed.
Gene Name |
aro_accession |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
drug_class |
amr_gene_family |
resistance_mechanism |
Analysis of pathogenicity genes to explore pathogen-host interactions
This table presents host pathogen-host interactions within the plasmid cluster.
Note: Analyzing pathogenicity-related genes using PHI-base to understand pathogen virulence mechanisms and their impact on host interactions. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e-5) to known pathogenicity-related genes are listed.
Gene Name |
phi_molconn_id |
host gene_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
host_descripton |
disease_name |
function |
phenotype_of_mutant |
Analyzing carbohydrate-active enzyme genes to uncover mechanisms of nutrient degradation
This table presents carbohydrate-active enzyme genes identified within the plasmid cluster.
Note: Annotation of carbohydrate-active enzyme genes was performed using CAZy to explore mechanisms of nutrient breakdown and utilization. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known CAZyme genes are listed.
Gene Name |
cazy_id |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
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 |