Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
| Cluster Information |
Plasmid Cluster ID |
C2301 |
| Reference Plasmid |
1111525849760419_bin.7__k141_140846 |
| Reference Plasmid Size |
15528 |
| 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 |
| M0036370 |
IFFMMLAN_00001 |
443 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-259T>C |
None |
| M0036371 |
IFFMMLAN_00001 |
445 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-257C>T |
None |
| M0036372 |
IFFMMLAN_00001 |
515 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-187T>G |
None |
| M0036373 |
IFFMMLAN_00001 |
539 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-163C>A |
None |
| M0036374 |
IFFMMLAN_00001 |
540 |
8 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-162A>C |
None |
| M0036375 |
IFFMMLAN_00001 |
546 |
8 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-156A>G |
None |
| M0036376 |
IFFMMLAN_00001 |
618 |
8 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-84A>G |
None |
| M0036377 |
IFFMMLAN_00001 |
758 |
10 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
57G>A |
Glu19Glu |
| M0036378 |
IFFMMLAN_00001 |
857 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
156G>A |
Glu52Glu |
| M0036379 |
IFFMMLAN_00001 |
925 |
15 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
224C>A |
Ala75Asp |
| M0036380 |
IFFMMLAN_00001 |
935 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
234A>T |
Thr78Thr |
| M0036381 |
IFFMMLAN_00001 |
1001 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
300A>G |
Gln100Gln |
| M0036382 |
IFFMMLAN_00001 |
1022 |
10 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
321C>T |
Val107Val |
| M0036383 |
IFFMMLAN_00001 |
1055 |
10 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
354G>A |
Arg118Arg |
| M0036384 |
IFFMMLAN_00001 |
1082 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
381C>A |
Val127Val |
| M0036385 |
IFFMMLAN_00001 |
1130 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
429A>G |
Ala143Ala |
| M0036386 |
IFFMMLAN_00001 |
1151 |
12 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
450T>C |
Phe150Phe |
| M0036387 |
IFFMMLAN_00001 |
1167 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
466A>C |
Arg156Arg |
| M0036388 |
IFFMMLAN_00001 |
1199 |
10 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
498G>A |
Val166Val |
| M0036389 |
IFFMMLAN_00002 |
1588 |
16 |
Skin |
0.36 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-69T>C |
None |
| M0036390 |
IFFMMLAN_00002 |
1594 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-63A>G |
None |
| M0036391 |
IFFMMLAN_00002 |
1606 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-51A>G |
None |
| M0036392 |
IFFMMLAN_00002 |
1728 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
72C>T |
Tyr24Tyr |
| M0036393 |
IFFMMLAN_00002 |
1746 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
90C>T |
Ile30Ile |
| M0036394 |
IFFMMLAN_00002 |
1758 |
12 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
102T>C |
Asn34Asn |
| M0036395 |
IFFMMLAN_00002 |
1827 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
171A>G |
Leu57Leu |
| M0036396 |
IFFMMLAN_00002 |
1929 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
273G>A |
Glu91Glu |
| M0036397 |
IFFMMLAN_00002 |
1967 |
18 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
311C>G |
Ser104Cys |
| M0036398 |
IFFMMLAN_00002 |
2259 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
603C>T |
His201His |
| M0036399 |
IFFMMLAN_00002 |
2375 |
22 |
Skin |
0.49 |
protein_coding |
missense_variant |
MODERATE |
719T>A |
Leu240Gln |
| M0036400 |
IFFMMLAN_00005 |
2403 |
15 |
Skin |
0.33 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1849G>A |
None |
| M0036401 |
IFFMMLAN_00005 |
2496 |
25 |
Skin |
0.56 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1756T>C |
None |
| M0036402 |
IFFMMLAN_00005 |
2498 |
11 |
Skin |
0.24 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1754T>C |
None |
| M0036403 |
IFFMMLAN_00005 |
2508 |
25 |
Skin |
0.56 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1744C>G |
None |
| M0036404 |
IFFMMLAN_00005 |
2526 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1726T>C |
None |
| M0036405 |
IFFMMLAN_00003 |
2537 |
7 |
Skin |
0.16 |
protein_coding |
splice_region_variant&stop_retained_variant |
LOW |
351G>A |
Ter117Ter |
| M0036406 |
IFFMMLAN_00003 |
2881 |
29 |
Skin |
0.64 |
protein_coding |
missense_variant |
MODERATE |
7T>G |
Cys3Gly |
| M0036407 |
IFFMMLAN_00004 |
3033 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
852T>A |
Ala284Ala |
| M0036408 |
IFFMMLAN_00004 |
3252 |
17 |
Skin |
0.38 |
protein_coding |
missense_variant |
MODERATE |
633C>G |
Phe211Leu |
| M0036409 |
IFFMMLAN_00003 |
3960 |
32 |
Skin |
0.71 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1073T>C |
None |
| M0036410 |
IFFMMLAN_00003 |
4073 |
13 |
Skin |
0.29 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1186G>C |
None |
| M0036411 |
IFFMMLAN_00003 |
4115 |
34 |
Skin |
0.76 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1228A>T |
None |
| M0036412 |
IFFMMLAN_00003 |
4130 |
34 |
Skin |
0.76 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1243T>A |
None |
| M0036413 |
IFFMMLAN_00003 |
4132 |
14 |
Skin |
0.31 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1245A>C |
None |
| M0036414 |
IFFMMLAN_00003 |
4139 |
25 |
Skin |
0.56 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1252C>T |
None |
| M0036415 |
IFFMMLAN_00005 |
4473 |
21 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
222T>A |
Ala74Ala |
| M0036416 |
IFFMMLAN_00005 |
4582 |
24 |
Skin |
0.53 |
protein_coding |
missense_variant |
MODERATE |
331A>G |
Ile111Val |
| M0036417 |
IFFMMLAN_00005 |
4617 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
366G>T |
Lys122Asn |
| M0036418 |
IFFMMLAN_00006 |
5024 |
34 |
Skin |
0.76 |
protein_coding |
synonymous_variant |
LOW |
69T>C |
Gly23Gly |
| M0036419 |
IFFMMLAN_00006 |
5156 |
35 |
Skin |
0.78 |
protein_coding |
synonymous_variant |
LOW |
201T>C |
Ile67Ile |
| M0036420 |
IFFMMLAN_00006 |
5385 |
33 |
Skin |
0.73 |
protein_coding |
missense_variant |
MODERATE |
430A>G |
Lys144Glu |
| M0036421 |
IFFMMLAN_00006 |
5636 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
681G>A |
Gly227Gly |
| M0036422 |
IFFMMLAN_00006 |
5744 |
35 |
Skin |
0.78 |
protein_coding |
synonymous_variant |
LOW |
789A>G |
Ser263Ser |
| M0036423 |
IFFMMLAN_00006 |
5756 |
26 |
Skin |
0.58 |
protein_coding |
synonymous_variant |
LOW |
801C>T |
Arg267Arg |
| M0036424 |
IFFMMLAN_00006 |
6416 |
35 |
Skin |
0.78 |
protein_coding |
synonymous_variant |
LOW |
1461T>C |
Thr487Thr |
| M0036425 |
IFFMMLAN_00003 |
6526 |
22 |
Skin |
0.49 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3639C>T |
None |
| M0036426 |
IFFMMLAN_00007 |
7005 |
25 |
Skin |
0.56 |
protein_coding |
synonymous_variant |
LOW |
459C>T |
Ser153Ser |
| M0036427 |
IFFMMLAN_00007 |
7173 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
627G>C |
Ala209Ala |
| M0036428 |
IFFMMLAN_00007 |
7776 |
20 |
Skin |
0.44 |
protein_coding |
synonymous_variant |
LOW |
1230A>T |
Ala410Ala |
| M0036429 |
IFFMMLAN_00004 |
7917 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4033G>A |
None |
| M0036430 |
IFFMMLAN_00004 |
7922 |
21 |
Skin |
0.47 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4038C>T |
None |
| M0036431 |
IFFMMLAN_00004 |
8002 |
12 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4118T>G |
None |
| M0036432 |
IFFMMLAN_00008 |
8276 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
123T>A |
Ile41Ile |
| M0036433 |
IFFMMLAN_00008 |
8495 |
33 |
Skin |
0.73 |
protein_coding |
synonymous_variant |
LOW |
342A>T |
Ile114Ile |
| M0036434 |
IFFMMLAN_00008 |
8732 |
33 |
Skin |
0.73 |
protein_coding |
synonymous_variant |
LOW |
579G>A |
Lys193Lys |
| M0036435 |
IFFMMLAN_00008 |
9009 |
25 |
Skin |
0.56 |
protein_coding |
synonymous_variant |
LOW |
856T>C |
Leu286Leu |
| M0036436 |
IFFMMLAN_00009 |
9227 |
13 |
Skin |
0.29 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-10A>T |
None |
| M0036437 |
IFFMMLAN_00009 |
9233 |
24 |
Skin |
0.53 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-16A>G |
None |
| M0036438 |
IFFMMLAN_00010 |
9299 |
32 |
Skin |
0.71 |
protein_coding |
missense_variant |
MODERATE |
1576G>T |
Ala526Ser |
| M0036439 |
IFFMMLAN_00010 |
9542 |
27 |
Skin |
0.60 |
protein_coding |
missense_variant |
MODERATE |
1333G>A |
Ala445Thr |
| M0036440 |
IFFMMLAN_00010 |
9710 |
26 |
Skin |
0.58 |
protein_coding |
missense_variant |
MODERATE |
1165C>G |
Pro389Ala |
| M0036441 |
IFFMMLAN_00010 |
10071 |
11 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
804G>C |
Ala268Ala |
| M0036442 |
IFFMMLAN_00010 |
10283 |
21 |
Skin |
0.47 |
protein_coding |
missense_variant |
MODERATE |
592A>G |
Asn198Asp |
| M0036443 |
IFFMMLAN_00010 |
10443 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
432T>C |
Ile144Ile |
| M0036444 |
IFFMMLAN_00010 |
10446 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
429A>G |
Gly143Gly |
| M0036445 |
IFFMMLAN_00010 |
10506 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
369C>T |
Tyr123Tyr |
| M0036446 |
IFFMMLAN_00010 |
10575 |
21 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
300C>T |
Ser100Ser |
| M0036447 |
IFFMMLAN_00010 |
10707 |
19 |
Skin |
0.42 |
protein_coding |
synonymous_variant |
LOW |
168C>A |
Thr56Thr |
| M0036448 |
IFFMMLAN_00010 |
10828 |
17 |
Skin |
0.38 |
protein_coding |
missense_variant |
MODERATE |
47G>A |
Gly16Asp |
| M0036449 |
IFFMMLAN_00009 |
10944 |
14 |
Skin |
0.31 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1727A>C |
None |
| M0036450 |
IFFMMLAN_00009 |
10964 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1747T>C |
None |
| M0036451 |
IFFMMLAN_00009 |
10981 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1764A>T |
None |
| M0036452 |
IFFMMLAN_00009 |
11018 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1801C>T |
None |
| M0036453 |
IFFMMLAN_00003 |
4165 |
33 |
Skin |
0.73 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1278A>G |
None |
| M0036454 |
IFFMMLAN_00005 |
4398 |
15 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
147G>T |
Val49Val |
| M0036455 |
IFFMMLAN_00005 |
4814 |
12 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
563G>A |
Ser188Asn |
| M0036456 |
IFFMMLAN_00005 |
4815 |
12 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
564T>A |
Ser188Arg |
| M0036457 |
IFFMMLAN_00005 |
4840 |
35 |
Skin |
0.78 |
protein_coding |
missense_variant |
MODERATE |
589A>G |
Ile197Val |
| M0036458 |
IFFMMLAN_00001 |
517 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-185T>G |
None |
| M0036459 |
IFFMMLAN_00001 |
621 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-81C>T |
None |
| M0036460 |
IFFMMLAN_00001 |
827 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
126C>T |
Leu42Leu |
| M0036461 |
IFFMMLAN_00001 |
910 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
209A>G |
Lys70Arg |
| M0036462 |
IFFMMLAN_00002 |
1609 |
9 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-48A>G |
None |
| M0036463 |
IFFMMLAN_00002 |
1765 |
7 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
109T>A |
Ser37Thr |
| M0036464 |
IFFMMLAN_00002 |
2316 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
660T>A |
Thr220Thr |
| M0036465 |
IFFMMLAN_00005 |
2521 |
8 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1731G>A |
None |
| M0036466 |
IFFMMLAN_00003 |
2690 |
11 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
198G>A |
Leu66Leu |
| M0036467 |
IFFMMLAN_00003 |
2912 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-25T>C |
None |
| M0036468 |
IFFMMLAN_00004 |
3138 |
13 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
747T>G |
Thr249Thr |
| M0036469 |
IFFMMLAN_00004 |
3417 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
468C>T |
Ser156Ser |
| M0036470 |
IFFMMLAN_00004 |
3504 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
381G>T |
Leu127Leu |
| M0036471 |
IFFMMLAN_00004 |
3633 |
28 |
Skin |
0.62 |
protein_coding |
synonymous_variant |
LOW |
252C>A |
Gly84Gly |
| M0036472 |
IFFMMLAN_00003 |
4041 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1154C>T |
None |
| M0036473 |
IFFMMLAN_00003 |
4188 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1301T>C |
None |
| M0036474 |
IFFMMLAN_00006 |
5223 |
8 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
268G>A |
Asp90Asn |
| M0036475 |
IFFMMLAN_00006 |
5387 |
29 |
Skin |
0.64 |
protein_coding |
synonymous_variant |
LOW |
432A>G |
Lys144Lys |
| M0036476 |
IFFMMLAN_00006 |
5426 |
33 |
Skin |
0.73 |
protein_coding |
synonymous_variant |
LOW |
471C>T |
Asp157Asp |
| M0036477 |
IFFMMLAN_00006 |
5657 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
702G>T |
Val234Val |
| M0036478 |
IFFMMLAN_00006 |
6422 |
18 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
1467C>T |
Phe489Phe |
| M0036479 |
IFFMMLAN_00007 |
6927 |
19 |
Skin |
0.42 |
protein_coding |
synonymous_variant |
LOW |
381A>C |
Ile127Ile |
| M0036480 |
IFFMMLAN_00007 |
6975 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
429A>G |
Lys143Lys |
| M0036481 |
IFFMMLAN_00007 |
7029 |
11 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
483A>G |
Pro161Pro |
| M0036482 |
IFFMMLAN_00007 |
7056 |
11 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
510G>A |
Lys170Lys |
| M0036483 |
IFFMMLAN_00007 |
7362 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
816C>T |
Phe272Phe |
| M0036484 |
IFFMMLAN_00007 |
7467 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
921G>A |
Thr307Thr |
| M0036485 |
IFFMMLAN_00007 |
7662 |
20 |
Skin |
0.44 |
protein_coding |
synonymous_variant |
LOW |
1116C>A |
Ala372Ala |
| M0036486 |
IFFMMLAN_00007 |
7803 |
16 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
1257C>T |
Phe419Phe |
| M0036487 |
IFFMMLAN_00007 |
7815 |
15 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
1269T>C |
Val423Val |
| M0036488 |
IFFMMLAN_00004 |
7964 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4080G>A |
None |
| M0036489 |
IFFMMLAN_00004 |
7985 |
10 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4101A>G |
None |
| M0036490 |
IFFMMLAN_00008 |
8480 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
327G>T |
Gly109Gly |
| M0036491 |
IFFMMLAN_00008 |
8660 |
10 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
507T>C |
Arg169Arg |
| M0036492 |
IFFMMLAN_00008 |
8705 |
11 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
552A>G |
Glu184Glu |
| M0036493 |
IFFMMLAN_00008 |
8747 |
31 |
Skin |
0.69 |
protein_coding |
synonymous_variant |
LOW |
594T>G |
Pro198Pro |
| M0036494 |
IFFMMLAN_00009 |
9133 |
21 |
Skin |
0.47 |
protein_coding |
missense_variant |
MODERATE |
85C>T |
His29Tyr |
| M0036495 |
IFFMMLAN_00009 |
9150 |
8 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
68C>T |
Thr23Ile |
| M0036496 |
IFFMMLAN_00009 |
9161 |
11 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
57T>G |
Phe19Leu |
| M0036497 |
IFFMMLAN_00009 |
9194 |
30 |
Skin |
0.67 |
protein_coding |
missense_variant |
MODERATE |
24A>T |
Glu8Asp |
| M0036498 |
IFFMMLAN_00010 |
9255 |
12 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1620C>T |
Asn540Asn |
| M0036499 |
IFFMMLAN_00010 |
9359 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1516A>G |
Asn506Asp |
| M0036500 |
IFFMMLAN_00010 |
9402 |
11 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
1473C>T |
Ser491Ser |
| M0036501 |
IFFMMLAN_00010 |
9530 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1345G>A |
Ala449Thr |
| M0036502 |
IFFMMLAN_00010 |
9630 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1245A>T |
Lys415Asn |
| M0036503 |
IFFMMLAN_00010 |
9895 |
18 |
Skin |
0.40 |
protein_coding |
missense_variant |
MODERATE |
980A>G |
Glu327Gly |
| M0036504 |
IFFMMLAN_00010 |
9948 |
15 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
927T>C |
Asn309Asn |
| M0036505 |
IFFMMLAN_00010 |
10053 |
16 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
822G>A |
Glu274Glu |
| M0036506 |
IFFMMLAN_00010 |
10176 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
699C>T |
Ile233Ile |
| M0036507 |
IFFMMLAN_00010 |
10437 |
14 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
438G>T |
Val146Val |
| M0036508 |
IFFMMLAN_00010 |
10464 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
411T>C |
Asn137Asn |
| M0036509 |
IFFMMLAN_00010 |
10470 |
13 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
405T>C |
Ser135Ser |
| M0036510 |
IFFMMLAN_00010 |
10524 |
10 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
351G>A |
Leu117Leu |
| M0036511 |
IFFMMLAN_00010 |
10573 |
7 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
302T>A |
Leu101His |
| M0036512 |
IFFMMLAN_00011 |
11452 |
12 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
361A>G |
Ile121Val |
| M0036513 |
IFFMMLAN_00011 |
11565 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
474G>A |
Leu158Leu |
| M0036514 |
IFFMMLAN_00011 |
11589 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
498T>C |
Ser166Ser |
| M0036515 |
IFFMMLAN_00011 |
11628 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
537A>T |
Thr179Thr |
| M0036516 |
IFFMMLAN_00011 |
11723 |
12 |
Skin |
0.27 |
protein_coding |
missense_variant |
MODERATE |
632T>C |
Val211Ala |
| M0036517 |
IFFMMLAN_00011 |
11775 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
684A>C |
Lys228Asn |
| M0036518 |
IFFMMLAN_00011 |
11809 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
718T>C |
Leu240Leu |
| M0036519 |
IFFMMLAN_00011 |
11837 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
746T>A |
Met249Lys |
| M0036520 |
IFFMMLAN_00011 |
11914 |
11 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
823T>C |
Leu275Leu |
| M0036521 |
IFFMMLAN_00011 |
12046 |
7 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
955A>C |
Lys319Gln |
| M0036522 |
IFFMMLAN_00011 |
12049 |
11 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
958T>G |
Tyr320Asp |
| M0036523 |
IFFMMLAN_00011 |
12060 |
10 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
969T>C |
Asp323Asp |
| M0036524 |
IFFMMLAN_00011 |
12364 |
11 |
Skin |
0.24 |
protein_coding |
missense_variant |
MODERATE |
1273A>G |
Ser425Gly |
| M0036525 |
IFFMMLAN_00011 |
12384 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1293T>C |
Tyr431Tyr |
| M0036526 |
IFFMMLAN_00011 |
12402 |
10 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1311G>T |
Pro437Pro |
| M0036527 |
IFFMMLAN_00011 |
12558 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1467G>A |
Gln489Gln |
| M0036528 |
IFFMMLAN_00011 |
12561 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1470A>G |
Lys490Lys |
| M0036529 |
IFFMMLAN_00001 |
548 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-154A>G |
None |
| M0036530 |
IFFMMLAN_00001 |
567 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-135T>C |
None |
| M0036531 |
IFFMMLAN_00001 |
568 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-134C>T |
None |
| M0036532 |
IFFMMLAN_00001 |
1223 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
522A>T |
Leu174Leu |
| M0036533 |
IFFMMLAN_00001 |
1436 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
735G>A |
Lys245Lys |
| M0036534 |
IFFMMLAN_00001 |
1493 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
792C>A |
Ile264Ile |
| M0036535 |
IFFMMLAN_00001 |
1502 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
801A>G |
Pro267Pro |
| M0036536 |
IFFMMLAN_00001 |
1568 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
867A>C |
Ser289Ser |
| M0036537 |
IFFMMLAN_00002 |
1614 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-43A>T |
None |
| M0036538 |
IFFMMLAN_00002 |
1616 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-41G>A |
None |
| M0036539 |
IFFMMLAN_00002 |
1637 |
12 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-20C>T |
None |
| M0036540 |
IFFMMLAN_00002 |
1825 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
169C>T |
Leu57Leu |
| M0036541 |
IFFMMLAN_00002 |
1873 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
217A>C |
Lys73Gln |
| M0036542 |
IFFMMLAN_00002 |
1878 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
222T>A |
Asp74Glu |
| M0036543 |
IFFMMLAN_00002 |
1881 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
225T>C |
Asp75Asp |
| M0036544 |
IFFMMLAN_00002 |
1893 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
237A>G |
Lys79Lys |
| M0036545 |
IFFMMLAN_00002 |
1894 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
238T>A |
Ser80Thr |
| M0036546 |
IFFMMLAN_00002 |
1896 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
240T>G |
Ser80Ser |
| M0036547 |
IFFMMLAN_00002 |
1905 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
249G>T |
Thr83Thr |
| M0036548 |
IFFMMLAN_00002 |
1906 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
250T>C |
Phe84Leu |
| M0036549 |
IFFMMLAN_00002 |
1966 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
310T>C |
Ser104Pro |
| M0036550 |
IFFMMLAN_00002 |
1986 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
330A>G |
Gln110Gln |
| M0036551 |
IFFMMLAN_00002 |
2010 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
354T>A |
Ile118Ile |
| M0036552 |
IFFMMLAN_00002 |
2042 |
10 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
386T>C |
Ile129Thr |
| M0036553 |
IFFMMLAN_00002 |
2066 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
410T>G |
Leu137Arg |
| M0036554 |
IFFMMLAN_00002 |
2071 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
415G>T |
Gly139Cys |
| M0036555 |
IFFMMLAN_00002 |
2072 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
416G>A |
Gly139Asp |
| M0036556 |
IFFMMLAN_00002 |
2076 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
420C>T |
Val140Val |
| M0036557 |
IFFMMLAN_00002 |
2139 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
483C>T |
Thr161Thr |
| M0036558 |
IFFMMLAN_00002 |
2152 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
496C>A |
Gln166Lys |
| M0036559 |
IFFMMLAN_00002 |
2187 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
531G>T |
Val177Val |
| M0036560 |
IFFMMLAN_00002 |
2214 |
10 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
558G>A |
Thr186Thr |
| M0036561 |
IFFMMLAN_00002 |
2284 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
628C>A |
His210Asn |
| M0036562 |
IFFMMLAN_00002 |
2286 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
630T>A |
His210Gln |
| M0036563 |
IFFMMLAN_00002 |
2349 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
693G>A |
Met231Ile |
| M0036564 |
IFFMMLAN_00002 |
2355 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
699C>T |
Tyr233Tyr |
| M0036565 |
IFFMMLAN_00005 |
2383 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1869T>C |
None |
| M0036566 |
IFFMMLAN_00005 |
2411 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1841A>T |
None |
| M0036567 |
IFFMMLAN_00005 |
2417 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1835A>T |
None |
| M0036568 |
IFFMMLAN_00005 |
2433 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1819C>T |
None |
| M0036569 |
IFFMMLAN_00005 |
2470 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1782A>T |
None |
| M0036570 |
IFFMMLAN_00005 |
2479 |
14 |
Skin |
0.31 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1773T>C |
None |
| M0036571 |
IFFMMLAN_00005 |
2483 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1769T>C |
None |
| M0036572 |
IFFMMLAN_00005 |
2485 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1767G>A |
None |
| M0036573 |
IFFMMLAN_00005 |
2525 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1727G>A |
None |
| M0036574 |
IFFMMLAN_00005 |
2530 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1722C>T |
None |
| M0036575 |
IFFMMLAN_00003 |
2732 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
156A>T |
Ala52Ala |
| M0036576 |
IFFMMLAN_00003 |
2794 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
94T>C |
Leu32Leu |
| M0036577 |
IFFMMLAN_00004 |
2937 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
948C>T |
Leu316Leu |
| M0036578 |
IFFMMLAN_00004 |
2943 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
942G>A |
Thr314Thr |
| M0036579 |
IFFMMLAN_00004 |
2973 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
912C>T |
Phe304Phe |
| M0036580 |
IFFMMLAN_00004 |
3126 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
759A>G |
Leu253Leu |
| M0036581 |
IFFMMLAN_00004 |
3146 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
739C>T |
Leu247Leu |
| M0036582 |
IFFMMLAN_00004 |
3213 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
672T>G |
Gly224Gly |
| M0036583 |
IFFMMLAN_00004 |
3240 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
645A>T |
Leu215Leu |
| M0036584 |
IFFMMLAN_00004 |
3258 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
627C>T |
Ala209Ala |
| M0036585 |
IFFMMLAN_00004 |
3261 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
624T>C |
Ile208Ile |
| M0036586 |
IFFMMLAN_00004 |
3474 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
411C>T |
Gly137Gly |
| M0036587 |
IFFMMLAN_00004 |
3519 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
366T>A |
Ile122Ile |
| M0036588 |
IFFMMLAN_00004 |
3606 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
279G>A |
Arg93Arg |
| M0036589 |
IFFMMLAN_00004 |
3681 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
204A>G |
Ala68Ala |
| M0036590 |
IFFMMLAN_00004 |
3696 |
21 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
189T>G |
Gly63Gly |
| M0036591 |
IFFMMLAN_00004 |
3830 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
55G>A |
Val19Ile |
| M0036592 |
IFFMMLAN_00003 |
3888 |
8 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1001C>T |
None |
| M0036593 |
IFFMMLAN_00003 |
3979 |
23 |
Skin |
0.51 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1092C>T |
None |
| M0036594 |
IFFMMLAN_00003 |
3995 |
9 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1108G>A |
None |
| M0036595 |
IFFMMLAN_00003 |
4025 |
8 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1138T>C |
None |
| M0036596 |
IFFMMLAN_00003 |
4071 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1184G>A |
None |
| M0036597 |
IFFMMLAN_00003 |
4080 |
8 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1193A>C |
None |
| M0036598 |
IFFMMLAN_00003 |
4085 |
8 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1198A>T |
None |
| M0036599 |
IFFMMLAN_00003 |
4101 |
9 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1214T>G |
None |
| M0036600 |
IFFMMLAN_00003 |
4118 |
8 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1231C>T |
None |
| M0036601 |
IFFMMLAN_00003 |
4191 |
10 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1304A>T |
None |
| M0036602 |
IFFMMLAN_00003 |
4192 |
8 |
Skin |
0.18 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1305A>T |
None |
| M0036603 |
IFFMMLAN_00003 |
4225 |
10 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1338T>C |
None |
| M0036604 |
IFFMMLAN_00003 |
4227 |
10 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1340A>C |
None |
| M0036605 |
IFFMMLAN_00003 |
4228 |
10 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1341C>T |
None |
| M0036606 |
IFFMMLAN_00005 |
4337 |
10 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
86G>A |
Ser29Asn |
| M0036607 |
IFFMMLAN_00005 |
4341 |
10 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
90T>C |
Gly30Gly |
| M0036608 |
IFFMMLAN_00005 |
4344 |
21 |
Skin |
0.47 |
protein_coding |
synonymous_variant |
LOW |
93G>A |
Glu31Glu |
| M0036609 |
IFFMMLAN_00005 |
4410 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
159A>G |
Pro53Pro |
| M0036610 |
IFFMMLAN_00005 |
4447 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
196C>T |
Leu66Leu |
| M0036611 |
IFFMMLAN_00005 |
4461 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
210A>G |
Glu70Glu |
| M0036612 |
IFFMMLAN_00005 |
4470 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
219C>T |
Gly73Gly |
| M0036613 |
IFFMMLAN_00005 |
4479 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
228A>G |
Val76Val |
| M0036614 |
IFFMMLAN_00005 |
4491 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
240T>A |
Gly80Gly |
| M0036615 |
IFFMMLAN_00005 |
4509 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
258A>G |
Glu86Glu |
| M0036616 |
IFFMMLAN_00005 |
4542 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
291C>T |
Phe97Phe |
| M0036617 |
IFFMMLAN_00005 |
4563 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
312A>T |
Gly104Gly |
| M0036618 |
IFFMMLAN_00005 |
4674 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
423T>C |
His141His |
| M0036619 |
IFFMMLAN_00005 |
4728 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
477C>T |
His159His |
| M0036620 |
IFFMMLAN_00005 |
4791 |
13 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
540C>T |
Pro180Pro |
| M0036621 |
IFFMMLAN_00005 |
4917 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
666A>T |
Ala222Ala |
| M0036622 |
IFFMMLAN_00006 |
5021 |
8 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
66T>A |
Asn22Lys |
| M0036623 |
IFFMMLAN_00006 |
5084 |
10 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
129T>G |
Ser43Ser |
| M0036624 |
IFFMMLAN_00006 |
5174 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
219G>A |
Lys73Lys |
| M0036625 |
IFFMMLAN_00006 |
5192 |
10 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
237A>G |
Ala79Ala |
| M0036626 |
IFFMMLAN_00006 |
5221 |
10 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
266A>C |
Glu89Ala |
| M0036627 |
IFFMMLAN_00004 |
3804 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
81C>T |
Arg27Arg |
| M0036628 |
IFFMMLAN_00006 |
5096 |
26 |
Skin |
0.58 |
protein_coding |
synonymous_variant |
LOW |
141T>G |
Pro47Pro |
| M0036629 |
IFFMMLAN_00006 |
5957 |
15 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
1002C>A |
Ala334Ala |
| M0036630 |
IFFMMLAN_00006 |
6032 |
13 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
1077C>T |
Asn359Asn |
| M0036631 |
IFFMMLAN_00006 |
6041 |
13 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
1086T>A |
Ala362Ala |
| M0036632 |
IFFMMLAN_00006 |
6101 |
18 |
Skin |
0.40 |
protein_coding |
synonymous_variant |
LOW |
1146A>C |
Ala382Ala |
| M0036633 |
IFFMMLAN_00003 |
2726 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
162C>T |
Gly54Gly |
| M0036634 |
IFFMMLAN_00005 |
4734 |
12 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
483A>G |
Lys161Lys |
| M0036635 |
IFFMMLAN_00005 |
4786 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
535G>A |
Asp179Asn |
| M0036636 |
IFFMMLAN_00005 |
4803 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
552G>A |
Glu184Glu |
| M0036637 |
IFFMMLAN_00006 |
5394 |
8 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
439A>G |
Lys147Glu |
| M0036638 |
IFFMMLAN_00006 |
5529 |
8 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
574A>C |
Asn192His |
| M0036639 |
IFFMMLAN_00006 |
5534 |
11 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
579G>A |
Lys193Lys |
| M0036640 |
IFFMMLAN_00006 |
5560 |
7 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
605G>A |
Arg202Lys |
| M0036641 |
IFFMMLAN_00006 |
5567 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
612G>A |
Gln204Gln |
| M0036642 |
IFFMMLAN_00006 |
5588 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
633T>C |
Thr211Thr |
| M0036643 |
IFFMMLAN_00006 |
5595 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
640G>A |
Val214Ile |
| M0036644 |
IFFMMLAN_00006 |
5843 |
13 |
Skin |
0.29 |
protein_coding |
synonymous_variant |
LOW |
888C>T |
Pro296Pro |
| M0036645 |
IFFMMLAN_00006 |
5864 |
11 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
909C>T |
Val303Val |
| M0036646 |
IFFMMLAN_00006 |
6131 |
14 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
1176A>G |
Thr392Thr |
| M0036647 |
IFFMMLAN_00006 |
6170 |
14 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
1215G>A |
Pro405Pro |
| M0036648 |
IFFMMLAN_00006 |
6176 |
14 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
1221A>G |
Thr407Thr |
| M0036649 |
IFFMMLAN_00007 |
6624 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
78G>A |
Lys26Lys |
| M0036650 |
IFFMMLAN_00007 |
6633 |
22 |
Skin |
0.49 |
protein_coding |
synonymous_variant |
LOW |
87G>A |
Thr29Thr |
| M0036651 |
IFFMMLAN_00007 |
6654 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
108C>T |
Thr36Thr |
| M0036652 |
IFFMMLAN_00007 |
6666 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
120G>T |
Thr40Thr |
| M0036653 |
IFFMMLAN_00007 |
6792 |
23 |
Skin |
0.51 |
protein_coding |
synonymous_variant |
LOW |
246C>T |
Asp82Asp |
| M0036654 |
IFFMMLAN_00007 |
6843 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
297G>A |
Gln99Gln |
| M0036655 |
IFFMMLAN_00007 |
6895 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
349C>T |
Leu117Leu |
| M0036656 |
IFFMMLAN_00007 |
7068 |
10 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
522A>G |
Ala174Ala |
| M0036657 |
IFFMMLAN_00007 |
7071 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
525T>C |
Asn175Asn |
| M0036658 |
IFFMMLAN_00007 |
7074 |
10 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
528A>T |
Ile176Ile |
| M0036659 |
IFFMMLAN_00007 |
7126 |
8 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
580G>T |
Ala194Ser |
| M0036660 |
IFFMMLAN_00007 |
7135 |
8 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
589A>C |
Ile197Leu |
| M0036661 |
IFFMMLAN_00007 |
7389 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
843T>G |
Leu281Leu |
| M0036662 |
IFFMMLAN_00007 |
7533 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
987G>A |
Val329Val |
| M0036663 |
IFFMMLAN_00007 |
7593 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1047G>A |
Ser349Ser |
| M0036664 |
IFFMMLAN_00007 |
7596 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1050C>T |
Pro350Pro |
| M0036665 |
IFFMMLAN_00007 |
7791 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1245T>C |
Phe415Phe |
| M0036666 |
IFFMMLAN_00007 |
7873 |
7 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1327A>T |
Ile443Leu |
| M0036667 |
IFFMMLAN_00007 |
7884 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1338A>G |
Leu446Leu |
| M0036668 |
IFFMMLAN_00007 |
7890 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1344C>T |
Ile448Ile |
| M0036669 |
IFFMMLAN_00004 |
7913 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4029T>A |
None |
| M0036670 |
IFFMMLAN_00004 |
7920 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4036T>G |
None |
| M0036671 |
IFFMMLAN_00004 |
7921 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4037T>G |
None |
| M0036672 |
IFFMMLAN_00004 |
7942 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4058T>C |
None |
| M0036673 |
IFFMMLAN_00004 |
7944 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4060A>C |
None |
| M0036674 |
IFFMMLAN_00004 |
7999 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4115T>A |
None |
| M0036675 |
IFFMMLAN_00004 |
8051 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4167A>T |
None |
| M0036676 |
IFFMMLAN_00010 |
9321 |
10 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1554G>A |
Glu518Glu |
| M0036677 |
IFFMMLAN_00010 |
9405 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1470C>T |
Val490Val |
| M0036678 |
IFFMMLAN_00010 |
9522 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1353C>T |
Ile451Ile |
| M0036679 |
IFFMMLAN_00010 |
9543 |
22 |
Skin |
0.49 |
protein_coding |
synonymous_variant |
LOW |
1332C>T |
Gly444Gly |
| M0036680 |
IFFMMLAN_00010 |
9587 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1288G>A |
Val430Ile |
| M0036681 |
IFFMMLAN_00010 |
9632 |
9 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
1243A>G |
Lys415Glu |
| M0036682 |
IFFMMLAN_00010 |
9633 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1242C>T |
Asn414Asn |
| M0036683 |
IFFMMLAN_00010 |
9672 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
1203T>C |
Ile401Ile |
| M0036684 |
IFFMMLAN_00010 |
9696 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1179G>A |
Val393Val |
| M0036685 |
IFFMMLAN_00010 |
9708 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1167C>T |
Pro389Pro |
| M0036686 |
IFFMMLAN_00010 |
9714 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1161C>T |
Phe387Phe |
| M0036687 |
IFFMMLAN_00010 |
9723 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1152T>C |
Ser384Ser |
| M0036688 |
IFFMMLAN_00010 |
9819 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1056C>T |
Val352Val |
| M0036689 |
IFFMMLAN_00010 |
9852 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1023C>A |
Gly341Gly |
| M0036690 |
IFFMMLAN_00010 |
9879 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
996T>C |
Ile332Ile |
| M0036691 |
IFFMMLAN_00010 |
9885 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
990C>T |
Asn330Asn |
| M0036692 |
IFFMMLAN_00010 |
9891 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
984A>G |
Leu328Leu |
| M0036693 |
IFFMMLAN_00010 |
9912 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
963T>C |
Arg321Arg |
| M0036694 |
IFFMMLAN_00010 |
9959 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
916C>T |
His306Tyr |
| M0036695 |
IFFMMLAN_00010 |
10017 |
16 |
Skin |
0.36 |
protein_coding |
synonymous_variant |
LOW |
858T>C |
Gly286Gly |
| M0036696 |
IFFMMLAN_00010 |
10041 |
15 |
Skin |
0.33 |
protein_coding |
missense_variant |
MODERATE |
834G>C |
Gln278His |
| M0036697 |
IFFMMLAN_00010 |
10050 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
825C>T |
Leu275Leu |
| M0036698 |
IFFMMLAN_00010 |
10190 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
685G>A |
Val229Ile |
| M0036699 |
IFFMMLAN_00010 |
10236 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
639T>C |
Ser213Ser |
| M0036700 |
IFFMMLAN_00010 |
10296 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
579C>T |
Ser193Ser |
| M0036701 |
IFFMMLAN_00010 |
10346 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
529T>G |
Leu177Val |
| M0036702 |
IFFMMLAN_00010 |
10359 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
516G>A |
Pro172Pro |
| M0036703 |
IFFMMLAN_00010 |
10371 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
504G>A |
Lys168Lys |
| M0036704 |
IFFMMLAN_00010 |
10391 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
484C>T |
Leu162Leu |
| M0036705 |
IFFMMLAN_00010 |
10393 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
482G>A |
Arg161Gln |
| M0036706 |
IFFMMLAN_00010 |
10402 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
473A>C |
Asp158Ala |
| M0036707 |
IFFMMLAN_00010 |
10449 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
426T>C |
Asn142Asn |
| M0036708 |
IFFMMLAN_00010 |
10764 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
111C>G |
Gly37Gly |
| M0036709 |
IFFMMLAN_00011 |
11292 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
201C>T |
Asn67Asn |
| M0036710 |
IFFMMLAN_00011 |
11405 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
314C>T |
Ala105Val |
| M0036711 |
IFFMMLAN_00011 |
11463 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
372G>A |
Arg124Arg |
| M0036712 |
IFFMMLAN_00011 |
11655 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
564C>T |
Phe188Phe |
| M0036713 |
IFFMMLAN_00011 |
11664 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
573A>T |
Ser191Ser |
| M0036714 |
IFFMMLAN_00011 |
11688 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
597T>C |
Phe199Phe |
| M0036715 |
IFFMMLAN_00011 |
12102 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1011G>A |
Gln337Gln |
| M0036716 |
IFFMMLAN_00011 |
12288 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1197T>C |
Phe399Phe |
| M0036717 |
IFFMMLAN_00011 |
12387 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1296C>T |
Asp432Asp |
| M0036718 |
IFFMMLAN_00011 |
12432 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1341C>T |
Gly447Gly |
| M0036719 |
IFFMMLAN_00011 |
12471 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1380T>C |
Ala460Ala |
| M0036720 |
IFFMMLAN_00009 |
12599 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3382G>T |
None |
| M0036721 |
IFFMMLAN_00009 |
12665 |
7 |
Skin |
0.16 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3448T>A |
None |
| M0036722 |
IFFMMLAN_00009 |
12771 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3554A>G |
None |
| M0036723 |
IFFMMLAN_00009 |
12778 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3561T>G |
None |
| M0036724 |
IFFMMLAN_00009 |
12801 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3584C>T |
None |
| M0036725 |
IFFMMLAN_00009 |
12841 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3624T>C |
None |
| M0036726 |
IFFMMLAN_00006 |
6413 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1458T>C |
Val486Val |
| M0036727 |
IFFMMLAN_00007 |
6801 |
15 |
Skin |
0.33 |
protein_coding |
synonymous_variant |
LOW |
255C>G |
Gly85Gly |
| M0036728 |
IFFMMLAN_00011 |
9045 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2047A>T |
None |
| M0036729 |
IFFMMLAN_00011 |
9100 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1992C>T |
None |
| M0036730 |
IFFMMLAN_00010 |
9423 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1452C>T |
Asp484Asp |
| M0036731 |
IFFMMLAN_00010 |
9534 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1341C>T |
Gly447Gly |
| M0036732 |
IFFMMLAN_00010 |
10020 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
855T>C |
Ile285Ile |
| M0036733 |
IFFMMLAN_00006 |
5705 |
10 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
750C>T |
Ser250Ser |
| M0036734 |
IFFMMLAN_00007 |
6807 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
261A>G |
Thr87Thr |
| M0036735 |
IFFMMLAN_00007 |
7891 |
7 |
Skin |
0.16 |
protein_coding |
missense_variant |
MODERATE |
1345A>G |
Ser449Gly |
| M0036736 |
IFFMMLAN_00008 |
8819 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
666A>G |
Glu222Glu |
| M0036737 |
IFFMMLAN_00008 |
8877 |
8 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
724C>A |
Gln242Lys |
| M0036738 |
IFFMMLAN_00008 |
8984 |
9 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
831A>T |
Gln277His |
| M0036739 |
IFFMMLAN_00010 |
9300 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1575A>G |
Val525Val |
| M0036740 |
IFFMMLAN_00010 |
9890 |
10 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
985C>T |
Pro329Ser |
| M0036741 |
IFFMMLAN_00010 |
10140 |
10 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
735T>C |
Val245Val |
| M0036742 |
IFFMMLAN_00010 |
10647 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
228C>T |
Val76Val |
| M0036743 |
IFFMMLAN_00009 |
10949 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1732G>C |
None |
| M0036744 |
IFFMMLAN_00011 |
11339 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
248C>G |
Thr83Arg |
| M0036745 |
IFFMMLAN_00011 |
11340 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
249A>T |
Thr83Thr |
| M0036746 |
IFFMMLAN_00011 |
11358 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
267G>T |
Thr89Thr |
| M0036747 |
IFFMMLAN_00011 |
11994 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
903C>T |
Ile301Ile |
| M0036748 |
IFFMMLAN_00011 |
12058 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
967G>C |
Asp323His |
| M0036749 |
IFFMMLAN_00011 |
12171 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1080T>G |
Ala360Ala |
| M0036750 |
IFFMMLAN_00006 |
6114 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
1159C>T |
Leu387Leu |
| M0036751 |
IFFMMLAN_00006 |
6210 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
1255A>G |
Ile419Val |
| M0036752 |
IFFMMLAN_00006 |
6243 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1288A>G |
Thr430Ala |
| M0036753 |
IFFMMLAN_00010 |
9666 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1209A>G |
Pro403Pro |
| M0036754 |
IFFMMLAN_00010 |
10500 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
375G>C |
Gln125His |
| M0036755 |
IFFMMLAN_00011 |
12315 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1224C>T |
Thr408Thr |
| M0036756 |
IFFMMLAN_00002 |
2038 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
382G>A |
Ala128Thr |
| M0036757 |
IFFMMLAN_00002 |
2112 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
456T>G |
Gly152Gly |
| M0036758 |
IFFMMLAN_00002 |
2138 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
482C>T |
Thr161Ile |
| M0036759 |
IFFMMLAN_00002 |
2153 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
497A>G |
Gln166Arg |
| M0036760 |
IFFMMLAN_00002 |
2247 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
591T>C |
Cys197Cys |
| M0036761 |
IFFMMLAN_00002 |
2359 |
8 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
703G>A |
Val235Ile |
| M0036762 |
IFFMMLAN_00005 |
2419 |
9 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1833C>T |
None |
| M0036763 |
IFFMMLAN_00005 |
2493 |
10 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1759G>A |
None |
| M0036764 |
IFFMMLAN_00005 |
2505 |
10 |
Skin |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1747A>C |
None |
| M0036765 |
IFFMMLAN_00004 |
3819 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
66G>A |
Thr22Thr |
| M0036766 |
IFFMMLAN_00004 |
3839 |
8 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
46T>G |
Ser16Ala |
| M0036767 |
IFFMMLAN_00003 |
3977 |
13 |
Skin |
0.29 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1090T>A |
None |
| M0036768 |
IFFMMLAN_00003 |
4010 |
12 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1123T>C |
None |
| M0036769 |
IFFMMLAN_00003 |
4084 |
12 |
Skin |
0.27 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1197T>C |
None |
| M0036770 |
IFFMMLAN_00005 |
4780 |
10 |
Skin |
0.22 |
protein_coding |
missense_variant |
MODERATE |
529G>A |
Ala177Thr |
| M0036771 |
IFFMMLAN_00006 |
5462 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
507A>G |
Arg169Arg |
| M0036772 |
IFFMMLAN_00006 |
5765 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
810T>A |
Ile270Ile |
| M0036773 |
IFFMMLAN_00006 |
6314 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1359G>A |
Leu453Leu |
| M0036774 |
IFFMMLAN_00008 |
8219 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
66T>A |
Thr22Thr |
| M0036775 |
IFFMMLAN_00008 |
8639 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
486G>A |
Val162Val |
| M0036776 |
IFFMMLAN_00008 |
8689 |
8 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
536A>G |
Glu179Gly |
| M0036777 |
IFFMMLAN_00011 |
9044 |
9 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2048A>T |
None |
| M0036778 |
IFFMMLAN_00009 |
9131 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
87T>C |
His29His |
| M0036779 |
IFFMMLAN_00009 |
9138 |
9 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
80G>A |
Gly27Glu |
| M0036780 |
IFFMMLAN_00009 |
9146 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
72C>T |
Leu24Leu |
| M0036781 |
IFFMMLAN_00009 |
9147 |
9 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
71T>A |
Leu24His |
| M0036782 |
IFFMMLAN_00009 |
9166 |
9 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
52G>A |
Glu18Lys |
| M0036783 |
IFFMMLAN_00009 |
9218 |
9 |
Skin |
0.20 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1A>G |
None |
| M0036784 |
IFFMMLAN_00001 |
1160 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
459G>A |
Glu153Glu |
| M0036785 |
IFFMMLAN_00001 |
1557 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
856G>A |
Ala286Thr |
| M0036786 |
IFFMMLAN_00002 |
1936 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
280C>G |
Gln94Glu |
| M0036787 |
IFFMMLAN_00003 |
2660 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
228A>G |
Leu76Leu |
| M0036788 |
IFFMMLAN_00006 |
5987 |
14 |
Skin |
0.31 |
protein_coding |
synonymous_variant |
LOW |
1032A>G |
Leu344Leu |
| M0036789 |
IFFMMLAN_00006 |
6047 |
12 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1092T>G |
Gly364Gly |
| M0036790 |
IFFMMLAN_00006 |
6098 |
12 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1143A>G |
Ala381Ala |
| M0036791 |
IFFMMLAN_00006 |
6143 |
12 |
Skin |
0.27 |
protein_coding |
synonymous_variant |
LOW |
1188A>T |
Ala396Ala |
| M0036792 |
IFFMMLAN_00007 |
6726 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
180T>C |
Gly60Gly |
| M0036793 |
IFFMMLAN_00011 |
11592 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
501C>T |
Arg167Arg |
| M0036794 |
IFFMMLAN_00011 |
12276 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1185A>T |
Pro395Pro |
| M0036795 |
IFFMMLAN_00005 |
4916 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
665C>G |
Ala222Gly |
| M0036796 |
IFFMMLAN_00006 |
5180 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
225T>A |
Ile75Ile |
| M0036797 |
IFFMMLAN_00002 |
1949 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
293A>T |
Asp98Val |
| M0036798 |
IFFMMLAN_00002 |
2020 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
364C>T |
His122Tyr |
| M0036799 |
IFFMMLAN_00006 |
6359 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
1404A>T |
Thr468Thr |
| M0036800 |
IFFMMLAN_00007 |
6733 |
11 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
187T>C |
Leu63Leu |
| M0036801 |
IFFMMLAN_00007 |
6741 |
11 |
Skin |
0.24 |
protein_coding |
synonymous_variant |
LOW |
195T>C |
His65His |
| M0036802 |
IFFMMLAN_00007 |
7384 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
838A>T |
Met280Leu |
| M0036803 |
IFFMMLAN_00007 |
7398 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
852G>A |
Val284Val |
| M0036804 |
IFFMMLAN_00007 |
7698 |
10 |
Skin |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1152A>G |
Glu384Glu |
| M0036805 |
IFFMMLAN_00008 |
8814 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
661C>G |
Gln221Glu |
| M0036806 |
IFFMMLAN_00008 |
8817 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
664G>A |
Glu222Lys |
| M0036807 |
IFFMMLAN_00010 |
9474 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1401T>C |
Cys467Cys |
| M0036808 |
IFFMMLAN_00010 |
9485 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
1390T>A |
Ser464Thr |
| M0036809 |
IFFMMLAN_00010 |
10725 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
150C>A |
Gly50Gly |
| M0036810 |
IFFMMLAN_00011 |
11223 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
132T>C |
Ala44Ala |
| M0036811 |
IFFMMLAN_00011 |
11883 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
792C>A |
Gly264Gly |
| M0036812 |
IFFMMLAN_00011 |
11887 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
796A>C |
Asn266His |
| M0036813 |
IFFMMLAN_00004 |
3024 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
861C>T |
Tyr287Tyr |
| M0036814 |
IFFMMLAN_00004 |
3423 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
462C>T |
Arg154Arg |
| M0036815 |
IFFMMLAN_00004 |
3837 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
48A>G |
Ser16Ser |
| M0036816 |
IFFMMLAN_00004 |
3846 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
39A>T |
Ser13Ser |
| M0036817 |
IFFMMLAN_00006 |
5267 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
312T>A |
Arg104Arg |
| M0036818 |
IFFMMLAN_00006 |
5459 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
504A>G |
Glu168Glu |
| M0036819 |
IFFMMLAN_00006 |
5460 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
505A>C |
Arg169Arg |
| M0036820 |
IFFMMLAN_00006 |
6140 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1185T>G |
Leu395Leu |
| M0036821 |
IFFMMLAN_00006 |
6185 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1230A>G |
Ala410Ala |
| M0036822 |
IFFMMLAN_00007 |
7104 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
558T>C |
Ile186Ile |
| M0036823 |
IFFMMLAN_00007 |
7110 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
564C>T |
Ile188Ile |
| M0036824 |
IFFMMLAN_00007 |
7239 |
7 |
Skin |
0.16 |
protein_coding |
synonymous_variant |
LOW |
693T>A |
Pro231Pro |
| M0036825 |
IFFMMLAN_00007 |
7269 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
723T>G |
Ile241Met |
| M0036826 |
IFFMMLAN_00007 |
7416 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
870A>G |
Thr290Thr |
| M0036827 |
IFFMMLAN_00007 |
7424 |
6 |
Skin |
0.13 |
protein_coding |
missense_variant |
MODERATE |
878T>C |
Met293Thr |
| M0036828 |
IFFMMLAN_00007 |
7470 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
924T>A |
His308Gln |
| M0036829 |
IFFMMLAN_00007 |
7839 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1293G>T |
Ser431Ser |
| M0036830 |
IFFMMLAN_00008 |
8288 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
135T>C |
Ala45Ala |
| M0036831 |
IFFMMLAN_00008 |
8594 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
441T>C |
Asp147Asp |
| M0036832 |
IFFMMLAN_00008 |
8754 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
601T>C |
Leu201Leu |
| M0036833 |
IFFMMLAN_00008 |
9005 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
852A>G |
Lys284Lys |
| M0036834 |
IFFMMLAN_00011 |
9028 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2064A>C |
None |
| M0036835 |
IFFMMLAN_00011 |
9040 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2052G>A |
None |
| M0036836 |
IFFMMLAN_00011 |
9046 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2046C>A |
None |
| M0036837 |
IFFMMLAN_00011 |
9047 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2045T>A |
None |
| M0036838 |
IFFMMLAN_00011 |
9048 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2044A>T |
None |
| M0036839 |
IFFMMLAN_00011 |
9049 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2043T>A |
None |
| M0036840 |
IFFMMLAN_00011 |
9050 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2042T>G |
None |
| M0036841 |
IFFMMLAN_00011 |
9057 |
5 |
Skin |
0.11 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2035T>C |
None |
| M0036842 |
IFFMMLAN_00011 |
9112 |
6 |
Skin |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1980G>A |
None |
| M0036843 |
IFFMMLAN_00009 |
9122 |
8 |
Skin |
0.18 |
protein_coding |
splice_region_variant&stop_retained_variant |
LOW |
96G>A |
Ter32Ter |
| M0036844 |
IFFMMLAN_00009 |
9130 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
88C>T |
Pro30Ser |
| M0036845 |
IFFMMLAN_00009 |
9136 |
9 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
82G>T |
Asp28Tyr |
| M0036846 |
IFFMMLAN_00009 |
9152 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
66T>A |
Gly22Gly |
| M0036847 |
IFFMMLAN_00009 |
9154 |
9 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
64G>T |
Gly22Cys |
| M0036848 |
IFFMMLAN_00009 |
9162 |
9 |
Skin |
0.20 |
protein_coding |
missense_variant |
MODERATE |
56T>C |
Phe19Ser |
| M0036849 |
IFFMMLAN_00009 |
9182 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
36A>G |
Glu12Glu |
| M0036850 |
IFFMMLAN_00009 |
9185 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
33A>G |
Ile11Met |
| M0036851 |
IFFMMLAN_00009 |
9196 |
8 |
Skin |
0.18 |
protein_coding |
missense_variant |
MODERATE |
22G>A |
Glu8Lys |
| M0036852 |
IFFMMLAN_00010 |
9564 |
6 |
Skin |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1311T>C |
Leu437Leu |
| M0036853 |
IFFMMLAN_00005 |
4632 |
8 |
Skin |
0.18 |
protein_coding |
synonymous_variant |
LOW |
381T>C |
Phe127Phe |
| M0036854 |
IFFMMLAN_00006 |
5747 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
792C>T |
Gly264Gly |
| M0036855 |
IFFMMLAN_00006 |
5789 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
834G>A |
Lys278Lys |
| M0036856 |
IFFMMLAN_00006 |
5816 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
861T>C |
Asp287Asp |
| M0036857 |
IFFMMLAN_00006 |
5876 |
9 |
Skin |
0.20 |
protein_coding |
synonymous_variant |
LOW |
921A>G |
Leu307Leu |
| M0036858 |
IFFMMLAN_00006 |
5212 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
257C>T |
Ala86Val |
| M0036859 |
IFFMMLAN_00008 |
8570 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
417A>T |
Thr139Thr |
| M0036860 |
IFFMMLAN_00008 |
8627 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
474T>G |
Gly158Gly |
| M0036861 |
IFFMMLAN_00008 |
8693 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
540A>G |
Gly180Gly |
| M0036862 |
IFFMMLAN_00009 |
9221 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4G>A |
None |
| M0036863 |
IFFMMLAN_00009 |
9223 |
4 |
Skin |
0.09 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-6G>A |
None |
| M0036864 |
IFFMMLAN_00010 |
9272 |
5 |
Skin |
0.11 |
protein_coding |
missense_variant |
MODERATE |
1603G>A |
Val535Ile |
| M0036865 |
IFFMMLAN_00010 |
9285 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1590C>T |
Asp530Asp |
| M0036866 |
IFFMMLAN_00010 |
9996 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
879T>C |
Arg293Arg |
| M0036867 |
IFFMMLAN_00003 |
4167 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1280T>A |
None |
| M0036868 |
IFFMMLAN_00006 |
5981 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1026A>G |
Glu342Glu |
| M0036869 |
IFFMMLAN_00006 |
6044 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
1089G>A |
Arg363Arg |
| M0036870 |
IFFMMLAN_00006 |
6194 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
1239T>G |
Gly413Gly |
| M0036871 |
IFFMMLAN_00007 |
6912 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
366T>A |
Gly122Gly |
| M0036872 |
IFFMMLAN_00007 |
6981 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
435A>G |
Gly145Gly |
| M0036873 |
IFFMMLAN_00007 |
7041 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
495C>T |
Pro165Pro |
| M0036874 |
IFFMMLAN_00007 |
7047 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
501C>T |
Val167Val |
| M0036875 |
IFFMMLAN_00007 |
7152 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
606A>G |
Ala202Ala |
| M0036876 |
IFFMMLAN_00007 |
7178 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
632C>T |
Thr211Met |
| M0036877 |
IFFMMLAN_00007 |
7240 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
694G>A |
Gly232Ser |
| M0036878 |
IFFMMLAN_00004 |
8069 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4185T>C |
None |
| M0036879 |
IFFMMLAN_00008 |
8477 |
5 |
Skin |
0.11 |
protein_coding |
synonymous_variant |
LOW |
324A>G |
Lys108Lys |
| M0036880 |
IFFMMLAN_00008 |
8669 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
516G>C |
Val172Val |
| M0036881 |
IFFMMLAN_00010 |
10692 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
183G>A |
Ala61Ala |
| M0036882 |
IFFMMLAN_00009 |
11080 |
3 |
Skin |
0.07 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1863C>T |
None |
| M0036883 |
IFFMMLAN_00011 |
11103 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
12A>G |
Thr4Thr |
| M0036884 |
IFFMMLAN_00011 |
11122 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
31T>C |
Leu11Leu |
| M0036885 |
IFFMMLAN_00011 |
11976 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
885A>T |
Ile295Ile |
| M0036886 |
IFFMMLAN_00002 |
1957 |
4 |
Skin |
0.09 |
protein_coding |
missense_variant |
MODERATE |
301A>C |
Asn101His |
| M0036887 |
IFFMMLAN_00007 |
7488 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
942C>T |
Gly314Gly |
| M0036888 |
IFFMMLAN_00008 |
8621 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
468A>G |
Val156Val |
| M0036889 |
IFFMMLAN_00010 |
9312 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
1563T>C |
Ile521Ile |
| M0036890 |
IFFMMLAN_00001 |
1037 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
336A>T |
Gly112Gly |
| M0036891 |
IFFMMLAN_00001 |
1067 |
4 |
Skin |
0.09 |
protein_coding |
synonymous_variant |
LOW |
366T>C |
Tyr122Tyr |
| M0036892 |
IFFMMLAN_00001 |
1455 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
754G>A |
Glu252Lys |
| M0036893 |
IFFMMLAN_00002 |
1782 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
126C>T |
Arg42Arg |
| M0036894 |
IFFMMLAN_00006 |
5252 |
3 |
Skin |
0.07 |
protein_coding |
synonymous_variant |
LOW |
297T>A |
Thr99Thr |
| M0036895 |
IFFMMLAN_00006 |
5305 |
3 |
Skin |
0.07 |
protein_coding |
missense_variant |
MODERATE |
350G>A |
Gly117Asp |
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 |
| IFFMMLAN_00008 |
VFG016402 |
Polysaccharide capsule |
72.4 |
8.7e-116 |
1 |
286 |
0.9931 |
0.9761 |
Immune modulation |
UTP--glucose-1-phosphate uridylyltransferase GalU |
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 |
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 |
| IFFMMLAN_00011 |
CDM14583.1|GT4 |
98.8 |
0 |
1 |
496 |
1 |
1 |
Analyzing transport proteins to understand bacterial strategies for substrate uptake and detoxification
This table presents transport proteins within the plasmid cluster.
Note: Investigation of transport proteins based on TCDB to uncover bacterial mechanisms of substrate transport and environmental detoxification. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known transport protein entries are listed.
| Gene Name |
tcid |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
class_field |
class_term |
subclass |
subclass_term |
family |
family_term |